Paediatric medicine Books

Book SynopsisA través de una presentación práctica basada en casos clínicos, Diagnóstico Médico en Pediatría. Casos clínicos ayuda al lector a desarrollar sus habilidades diagnósticas, a adquirir más conocimientos a través de casos interesantes y a mejorar el pensamiento crítico para llegar a un diagnóstico correcto. El Dr. Andrew J. White, vicepresidente de educación y director del programa de residencia de la Washington University en St. Louis, presenta docenas de casos clínicos reales acompañados de fotografías a todo color. Esta colección única de casos es un recurso inestimable para pediatras, residentes, estudiantes de medicina y para los profesionales de la salud que atienden a pacientes pediátricos.La obra, desarrollada en 88 capítulos, expone en cada uno de ellos un caso clínico en un lenguaje amigable y fácil de entender. Cada caso inicia con el motivo principal de consulta, antecedentes de la enfermedad, antecedentes médicos, exploración física, consideraciones diagnósticas, diagnóstico y puntos de enseñanza, y culmina con lecturas recomendadas, todo profusamente ilustrado.Table of Contents1 Solo es un virus2 Una fractura afortunada3 Somnolencia4 ¿No tiene iris? ¡No, no tiene!5 Estertores nacidos en el lecho de un río6 Pero yo no me lastimé7 Transmisión poco convencional8 Una consideración remota, pero siempre en mente9 Infección tropical10 «Me duele sentarme»11 Agallas12 Está en los genes13 El secretillo de Benjamín14 La Odisea15 Caramelos16 Uno, otro o tal vez ambos17 Picaduras de niguas18 Una fiebre al día19 Una complicación adicional de los videojuegos20 No es el síndrome urémico hemolítico de la abuela21 «¿Cómo llegó esto allí?»22 Karma23 En la punta de la lengua24 «C» menos25 Obra en dos actos26 Muñón27 ¿Un posible TORCH?28 Problemas encapsulados29 El signo de Murphy de nuestros tiempos30 Tártago31 Bajo presión32 La evidencia del labio33 El pateador34 Policitemia NO vera35 Atropello36 Nunca fue lupus37 Convulsión en primavera38 ¿Necesito decir más?39 Reflujo rechazado40 Mal y de malas41 ¡Oíd, los ángeles heráldicos cantan!42 Sialorrea43 Salió de la pared44 ¡Ratas!45 Sandalias46 Te dije que me dolía47 Algo moteado48 Tictac49 Épulis50 Cólico de niño grande51 Un trastorno alimenticio definido52 Incompleta y atípica53 Sigue la pista54 Mordidas de vampiros55 ¡Chispas!56 Una ducha por hora57 Llamaré a un amigo58 Hueva de pescado o granos de café59 Bastante Graves60 Fenómeno mixto61 De vuelta a lo básico62 Un año63 No es solo grasa de bebé64 Del botulismo al abuso65 Precribado66 PET positiva67 Pensamiento estreñido68 Me suena a ERGE69 Enfermedad del 1.° de julio70 Los ojos lo saben71 Fuera de forma72 De rutina73 Todo está en tu cabeza74 Demasiado bueno75 Insuficiente76 PIC77 Parada forzosa78 Los sospechosos de siempre79 Demasiado bajo para respirar80 Vengo del futuro81 Antecedentes sociales: contribuyentes82 Mejor usa un balde83 A ver para cuándo84 Basquetbolista caída85 1 mL por kilómetro y medio86 Bebé azul87 GMO88 Inténtalo de nuevo

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Book SynopsisThis book is devoted exclusively to differential diagnosis in pediatric dermatology. It covers the full range of relevant conditions: inherited skin disorders; nevi; viral, bacterial, fungal, and parasitic infections; acne; allergic diseases; autoimmune skin disorders; connective tissue diseases; tumors; and miscellaneous conditions. Each comparison addresses the differential diagnosis between two (or occasionally three or four) dermatological conditions, containing between two and six images and a short text emphasizing the clinical differences between the diseases in question. At the end of each chapter, a summary highlights one or two characteristics essential for the differential diagnosis. The author is an expert who, since 1982, has been responsible for a column devoted to the differential diagnosis of pediatric dermatology in the European Journal of Pediatric Dermatology. The volume will represent an ideal tool for pediatric dermatologists, pediatricians, and GPs, and will help them in the diagnostic process.​Trade ReviewFrom the reviews:“The purpose is to aid pediatric dermatologists in generating accurate differential diagnoses when presented with skin conditions in children. … This is a useful introductory book to pediatric dermatology. It provides an accurate and easy approach to assess similarly appearing dermatoses with reasonable confidence of achieving the correct diagnosis. Readers could quickly look up a differential to confirm a diagnosis, assuming they are knowledgeable enough to identify the appropriate type of condition(s).” (Patricia Wong, Doody’s Book Reviews, September, 2013)Table of ContentsInherited Skin Disorders.- Nevi.- Viral Infections.- Bacterial Infections.- Fungal Infections.- Parasitic Infestations.- Acne.- Allergic Diseases.- Autoimmune Skin Disorders.- Miscellaneous Items.- Connective Tissue Diseases.- Tumors.

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Book SynopsisKinderfysiotherapie en spasticiteit.- Psychometrische verantwoording van metingen.- Meten van spiertonus.- Tonusonderzoek van Amiel-Tison.- Fysiotherapie als hulpverlening aan kinderen.- Betrouwbaarheidsonderzoek van het bewerkte tonusonderzoek.

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Book SynopsisPart of the World Clinics: Anesthesia, Critical Care & Pain - Pediatric Anesthesia series, this book presents evidence-based reviews on topics in paediatric anaesthesia, to provide practitioners and trainees with an up to date understanding of the subject. Beginning with articles on anaesthesia used for different surgical procedures, the following sections discuss challenges in anaesthesia for thoracic surgery in infants and perioperative care for neonatal emergencies. Further topics include perioperative complications of anaesthesia in children, neurotoxicity of anaesthesia on the developing brain, and ethical issues. Each article is supplemented by editors’ comments highlighting their own personal, clinical experience. Key points Part of the World Clinics: Anesthesia, Critical Care & Pain – Pediatric Anesthesia series Presents evidence-based reviews of latest advances and thinking in the field Each article supplemented by editors’ comments based on clinical experience Table of Contents Editorial Abbreviations Anesthesia for Neurosurgical Procedures in Children Anesthesia for Long-duration Laparoscopic Procedures in Children Challenges in Anesthesia for Thoracoscopic Surgery in Infants Anesthesia and Perioperative Care for Neonatal Emergencies Blood Dyscrasias and Anesthesia in Children Perioperative Complications of Anesthesia in Children Neurotoxicity of Anesthesia on Developing Brain Ethical Issues in Pediatric Anesthesiology

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Book SynopsisA groundbreaking work by Sigmund Freud that explores the nature of dreams and their significance in psychoanalysis. In this book, Freud introduces his theory of the unconscious mind and how it influences our dreams, desires, and behavior. He also explains his methods for interpreting dreams and how they can reveal deep-seated psychological issues and conflicts. Published in 1899, The Interpretation of Dreams remains an important work in the field of psychology and a testament to Freud's enduring influence on the study of the human mind.

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Book SynopsisDevelopmental and behavioural paediatrics is the assessment of children to ascertain their developmental status. This includes speech and language delay, learning difficulties, Attention Deficit Hyperactivity Disorder (ADHD), and social communication disorders, including Asperger’s Syndrome and Autism. Accurate diagnosis means that children, and their parents, can be given the appropriate support and advice required to ensure the best possible therapy and support (BMI Healthcare). This book is a comprehensive guide to the diagnosis and management of developmental and behavioural disorders in children. Beginning with an introduction to normal development and behaviour, the text then discusses surveillance and screening processes. Each of the following chapters covers a different disorder or syndrome, from Down’s syndrome, neuroregressive disorders and ADHD, to cerebral palsy, selective mutism, visual and hearing impairments, and many more. The final sections discuss therapeutic techniques including pharmacotherapy, counselling, and complementary and alternative medicine. Key points Comprehensive guide to diagnosis and management of developmental and behavioural disorders in children Covers many different disorders and syndromes Includes discussion on medicolegal aspects Features illustrations and figures to enhance learning Table of Contents History of developmental pediatrics Normal development and behaviour Theories of normal development and behaviour Developmental concerns in pediatrics practice Developmental surveillance and screening Approach to a child with developmental delay Developmental supportive care in the NICU Follow up of high risk newborns Genetics of developmental disorders Intellectual disability Multiple disabilities Down’s syndrome Turner syndrome Noonan syndrome Fragile X syndrome Klinefelter syndrome Prader Willi syndrome Angelman syndrome Williams syndrome Neurofibraomatosis Tuberous sclerosis Mucopolysaccharidosis Rett syndrome Sleep disorders Feeding disorders Elimination disorders Seizure disorders Cerebral palsy Motor disorders Neuroregressive disorders Inborn errors of metabolism Traumatic brain injury and stroke Neuromalignancy ADHD Disruptive behavioural disorders Anxiety Depression Tic disorders Hearing impairment Visual impairment Balance disorders and dizziness Development coordination disorder Sensory processing disorders Language and speech disorders Selective mutism Autism spectrum disorder Medical disorders in Autism Scholastic backwardness Specific learning disability Development and behavioural disorders in adolescence Child abuse Role of evaluations in management Therapies and interventions Early intervention Pharmacotherapy Counseling Electronic gadgets and media Use of technology in practice Role of complementary and alternative medicine Medicolegal aspects

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Book SynopsisThis book has been written with general practitioners primarily in view, describing common paediatric conditions that present in the outpatient clinics and those that require admission to hospital. The book is neither a textbook of paediatrics nor a handbook but is aimed to provide guidelines for the more commonplace conditions. Some aspects therefore, have been dealt with in detail, where felt relevant, while others are omitted on grounds of probable rare encounter. It is hoped that this volume will provide the family practitioner with an insight in the paediatrician's approach to many of the common problems in chifdren and to help him decide on the best course of action to follow. The care of children constitutes a significant and important part of a family doctor's work and practitioners are keen to promote optional care in all circumstances. It is hoped that the endeavours of this book will go in some small way to help put across the practitioner's approach.Table of Contents1 Infant feeding.- Breast feeding.- Bottle feeding.- Vitamins.- Regurgitation.- Vomiting.- Colic.- The hungry baby.- The baby who does not feed.- 2 Respiratory diseases.- Upper respiratory tract infection.- Tonsillitis.- Otitis media.- Stridor.- Croup.- Acute epiglottitis.- Chest infections.- Pneumonias.- Lobar pneumonia.- Airways obstruction.- Asthma.- 3 Gastrointestinal problems.- Gastroenteritis and related problems.- Malabsorption.- Chronic inflammatory bowel disease.- Congenital abnormalities.- Large bowel obstruction.- Appendicitis.- Differential diagnosis.- 4 Urinary tract.- Urinary tract infection.- Congenital abnormalities.- Glomerular disease.- Renal tubular disorders.- 5 Fits in childhood.- Neonatal fits.- Febrile fits.- Epilepsy.- Infantile spasms.- Differential diagnosis of peculiar turns.- 6 Heart disease in children.- Innocent murmurs.- Basic cardiac parameters.- Congestive cardiac failure.- Ventricular septal defect.- Patent ductus arteriosus.- Atrial septal defect.- Co-arctation of the aorta.- Transposition of the great vessels.- Tetralogy of Fallot.- Pulmonary stenosis.- Aortic stenosis.- Truncus arteriosus.- Tricuspid atresia.- Precautions against infection.- 7 Metabolic disorders.- Diabetes mellitus.- Clinical manifestations.- Stabilization.- Insulin.- Oral hypoglycaemic agents.- Diet.- Education.- Urine testing.- Blood glucose monitoring.- Useful services.- Thyroid disorders.- Thyrotoxicosis.- Carcinoma of the thyroid.- Hypothyroidism.- Congenital adrenal hyperplasia.- Growth problems.- Short stature.- Differential diagnosis of short stature.- Tall children.- 8 Common symptoms and problems of doubtful origin.- Abdominal pain.- Headaches.- Nocturnal enuresis.- Faecal soiling and encopresis.- 9 The problem child.- The crying baby.- Breath-holding attacks.- Temper tantrums.- The overactive child.- The child who does not sleep.- The child who does not eat.- School problems.- 10 Developmental assessment and the handicapped child.- Neonatal developmental assessment.- Newborn reflexes and reactions.- Special senses.- General objectives in the assessment of the handicapped.- Useful information.- 11 Surgical conditions.- Common surgical conditions.- Abnormalities of the female external genitalia.- The umbilicus.- Hare lip, cleft palate and tongue tie.- Swellings in the neck.- Ear, nose and throat surgery.- The eyes.- Neurosurgical conditions.- Orthopaedic problems.- 12 Emergencies in paediatrics.- Respiratory emergencies.- Cardiac emergencies.- Fits and coma.- Metabolic emergencies.- Gastro-intestinal emergencies.- Genito-urinary emergencies.- Miscellaneous emergencies.

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Book SynopsisMany clinical problems of transport have been known for decades, par­ ticularly those disorders involving the liver and kidney. As a result of the dramatic increase in interest in transport at the membrane level the Society devoted its Seventeenth Symposium, held at Leeds during September 1979, to Transport and Inherited Disease, the result of that meeting forming the basis of this monograph. For the occasion over a hundred members and guests of the Society were joined by many invited speakers from Europe and the USA to discuss this rapidly developing field with special reference to the direct interests of the Society - in­ herited metabolic disease. The major theme of the meeting was opened with formal scientific presentations on membrane structure, synthesis and the regulation of epithelial transport. These were followed by discussions of specific prob­ lems of transport in brain, kidney and red blood cells. Almost all of these later lectures had clinical applications with cystic fibrosis and nephro­ genic diabetes insipidus featuring as examples of the common inherited diseases. The Hudson Memorial Lecture was delivered by Professor H. Bickel (Heidelberg). This outstanding review lecture on 'Phenylketonuri- past, present and future' is reproduced in the Journal of the Society - the Journal of Inherited Metabolic Disease (Volume 3 No.4, pp.123-132). xiii xiv PREFACE The members' papers (both oral and poster) are also being reprinted in various issues of the Journal (published by MTP Press Ltd., Lancaster, UK).Table of ContentsSection One.- 1 The inherited methylmalonic acidaemias: a model system for the study of vitamin metabolism and apoenzyme-coenzyme Interactions — The Milner Lecture.- Section Two Biochemistry of Membranes.- 2 Membrane structure.- 3 Synthesis of membranes.- 4 Some regulatory principles in epithelial transport.- Section Three Transport in Brain.- 5 The needs of the brain for amino acids and how they are transported across the blood-brain barrier.- 6 Some aspects of the transport of glucose and ketone bodies into the brain and retina.- Section Four Renal Transport.- 7 The function and organization of kidney microvillar proteins.- 8 Cyclic nucleotides and the regulation of water and electrolyte transport.- 9 Mineralocorticoids and sodium transport.- 10 Sodium transport in cystic fibrosis.- 11 Nephrogenic diabetes insipidus.- 12 Mendelian hypophosphataemias as probes of phosphate and sulphate transport by mammalian kidney (X-linked hypophosphataemia. Autosomal hypophosphataemia in man and Hyp mutation in mouse).- 13 Renal transport of cystine by isolated renal tubules and brush-border membrane vesicles.- 14 5-Oxoprolinuria and other inborn errors related to the ?-glutamyl cycle.- Section Five Transport in Red Blood Cells.- 15 Anion transport in red blood cells.- 16 Inherited disorders of red-cell cation transport.- 17 Red-cell amino acid and nucleoside transport: inherited lesions and related enzyme deficiencies in sheep.

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Table of ContentsSection One Pathogenic Mechanisms of Inborn Errors: Clinical Implications of Biochemical Diversity.- 1 Molecular aspects of genetic heterogeneity.- 2 Inborn errors of purine metabolism-The Milner Lecture.- 3 Vitamin-responsive inherited metabolic disorders: propionic acidaemia and methylmalonic acidaemia.- 4 Homocystinuria: clinical and biochemical heterogeneity.- 5 Hereditary defects of steroid biosynthesis.- 6 Blood-brain barrier amino-acid transport: clinical implications.- Section Two Treatment: New Aspects and Limits, Transplantation, Replacement Therapy, Genetic Engineering.- 7 Recent studies on the maturation of lysosomal enzymes.- 8 Enzyme substitution by fibroblast transplantation.- 9 Artificial cell-encapsulated enzymes and adsorbents in congenital metabolic disorders.- 10 Prospects for enzyme replacement therapy in heritable metabolic disorders.- Section Three Inborn Errors of Metabolism affecting Brain Development (Animal Models).- 11 Inborn errors of metabolism affecting brain development-Introduction.- 12 Mutations in mice affecting brain development and their correlations with human diseases.- 13 Murine mutations affecting myelination: models to study myelin diseases in the human.- 14 The effect of phenylalanine on myelin metabolism in adolescent rats.- 15 Abnormal oligodendrocyte differentiation in a mouse mutant with defect in myelination.- Section Four Consequences of Inborn Errors of Metabolism for the Individual, the Family and Society.- 16 Inborn errors of metabolism consequences of long-term treatment for the individual, as derived from observations in phenylketonuria.- 17 Social aspects of the handicapped person.- 18 Psychological and educational aspects of handicap.- 19 Repercussions of screening.- 20 Some principles in the management of inherited metabolic disease.

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Book SynopsisThe aim of this book is to provide a practical guide to help junior doctors to manage the important acute paediatric problems they are likely to encounter. The emphasis has been placed on the diagnostic problems and management when the child first presents. The approach taken is largely pragmatic, in contrast with the more theoretical approach of undergraduate teaching. As many doctors in general paediatrics are also required to perform neonatal resuscitation, a chapter on this topic has been included, but no attempt has been made to cover the specialized field of neonatal intensive care. Several of the chapters have been published in a series of articles in Hospital Update. They have been thoroughly revised and many new chapters added. It would have been impossible for me to have written this book without the help and encouragement of my wife, Dr Ann Goldman. She has read the book at each stage of its gestation and made many constructive suggestions and improvements. I am also grateful to Dr Paul Hutchins who has helped me considerably. Dr Doug Jones has provided helpful advice on the anaesthetic aspects and practical procedures and contributed the section on the insertion of central venous catheters. Many other colleagues have read sections of the book and I should like to thank Drs Ruby Schwartz, Terry Stacey, Andy Whitelaw, Rodney Rivers, John Warner, Sue Rigden, Susan­ nah Hart, Mike Liberman and Bernard Valman.Table of Contents1. Neonatal resuscitation.- 2. Cardiorespiratory arrest.- 3. The child with stridor.- 4. Lower respiratory tract disorders.- 5. Diarrhoea and vomiting.- 6. Acute abdominal pain.- 7. Diabetic ketoacidosis and hypoglycaemia.- 8. The febrile child.- 9. Convulsions.- 10. Coma.- 11. Shock.- 12. Disorders of the kidney and urinary tract.- 13. Cardiovascular emergencies.- 14. Accidents and poisoning.- 15. Child abuse.- 16. Sudden infant death syndrome.- 17. Practical procedures.

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Book SynopsisThe sixteenth annual symposium of the Society for the Study of Inborn Errors of Metabolism was held in Bristol from 12th to 14th July, 1978. About 25 invited speakers and 150 participants came from many parts of Europe and North America to consider the topic, 'Inherited Disorders of Carbohydrate Metabolism'. Although some aspects of these disorders have formed part of the programme of previous symposia organized by the Socie­ ty, this was the first attempt to discuss them in a systematic manner. The subject, carbohydrate disorders, embraces both familiar and well documented conditions and some lesser known aspects of genetic disease. In all of these there remains much to be learnt about clinical and laboratory diagnosis, treatment, biochemical screening and pathogenesis. Thus one aim of the Society, to combine clinical and scientific interest, can rarely have been better achieved in a single symposium. Since the programme included diseases from six different areas of car­ bohydrate metabolism and contained so many distinguished speakers, it is impossible to highlight the more important aspects of this symposium within a short space. Each section made a notable contribution to knowledge and, when time was available, lively discussions ensued which have been recorded in the book. However, we wish to mention our two special lectures, because they recognise people to whom the Society owes a great deal. The Milner lecture has been given for the past 6 years as a tribute to Mr J.Table of ContentsSection One Introduction.- 1 Carbohydrate metabolism and its regulation — The Milner Lecture.- Section Two Disorders of Carbohydrate Absorption.- 2 Basic causes of carbohydrate malabsorption.- 3 Clinical aspects of disordered carbohydrate absorption.- Section Three Disorders of Galactose Metabolism.- 4 Galactose metabolism, hereditary defects and their clinical significance.- 5 Clinical aspects of Galactosaemia.- 6 How long should galactosaemia be treated?.- 7 Pregnancy in classical galactosaemia.- 8 Screening for galactosaemia.- 9 Prenatal diagnosis of classical galactosaemia.- 10 Discussion.- Section Four Disorders of Fructose Metabolism.- 11 Clinical and genetic studies of disorders in fructose metabolism.- 12 Pathogenic mechanisms of disorders in fructose metabolism.- 13 Discussion.- Section Five Disorders of Pyruvate Metabolism.- 14 Pathways and regulation of pyruvate metabolism.- 15 Pyruvate dehydrogenase deficiencies.- 16 Pyruvate carboxylase deficiency, studies on patients and on an animal model system.- Section Six Glycogen Storage Diseases.- 17 Recent advances and problems in the glycogen storage diseases.- 18 Hepatic glycogenosis: diagnosis and management — The F. P. Hudson Memorial Lecture.- 19 Recent work on treatment of Type I glycogen storage disease.- 20 Pre- and postnatal diagnosis of glycogen storage disease.- 21 Type VI glycogenosis: identification of subgroups.- 22 Discussion.- Section Seven Genetic Aspects of Diabetes.- 23 Clinical studies of the inheritance of diabetes mellitus.- 24 HLA antigens and diabetes.- 25 Juvenile diabetes and optic atrophy.- 26 Discussion.

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Table of ContentsSession I Nutrition and Metabolism of the Fetus.- The role of insulin and glucagon in fetal growth and metabolism.- Protein turnover rate in fetal organs: the influence of insulin.- Fetal ingestion and metabolism of amniotic fluid protein.- Some of the consequences of intrauterine growth retardation.- Discussion.- Session II Nutrition and Metabolism of the Fetus and Infant.- Umbilical uptake of substrates and their role in fetal metabolism.- The energy cost of growth estimated from simultaneous direct and indirect calorimetry in infants of less than 2500 g.- Fatty acid metabolism before and after birth.- The fatty acid composition of brown and white fat in newborn infants and the influence of the ingested fat on the fatty acid composition of their body fat.- Subcutaneous fat measurement as an indication of nutrition of the fetus and newborn.- Discussion.- Session III Nutrition of the Preterm Infant.- Body composition of the fetus and infant.- The absorption of magnesium, copper, zinc and iron by preterm infants in relation to body composition of the foetus.- Nitrogen balances and protein requirements of preterm infants.- Taurine in infant nutrition.- Discussion.- Session IV Human Milk.- Composition of human milk.- Immune factors in human milk.- The effects of pasteurisation on immune factors in human milk.- Feeding pre-term infants with raw and heat-sterilised human milk: effects on faecal flora.- Psycho-social implications of breast feeding.- Discussion.- Session V Parenteral Nutrition of the Newborn and Infant.- The intravenous and peroral requirements of amino acids during early infancy.- Studies on the requirement of amino acids in newborn infants receiving parenteral nutrition.- Brain composition of beagle puppies receiving total parenteral nutrition.- Trace elements in parenteral feeding of infants.- Discussion.- Index of subjects.

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Book SynopsisThe present volume of the Boerhaave series intends to be a reflexion of our present knowledge in the expanding field of early diagnosis and prevention of inherited disorders. Early diagnosis can mean detection of a carrier state in one or both potential parents, detection of a specific inherited disease in a previously born child or during a pregnancy at risk, or during various stages of the life of an already born individual. The first chapters will discuss inherited disorders manifesting later in life. In Huntington's Chorea detection may be possible from the age of 20 or 30 onwards, while in myotonic dystrophy it will be seen that detection may be possible soon after birth. Retinoblastoma serves as example of a disease manifesting in early infancy and which is partially treatable by surgical intervention. The same early onset does occur in phenylketonuria and cystic fibrosis. Both diseases provide examples of the possibilities of population screening, while in phenylketonuria an eminently succesful treatment is found in a restricted diet. For the usually early manifesting sphingolipidoses no treatment exists as yet, but enzyme treatment might in the near future become a reality. Spina bifida and anencephaly are not simple inherited Mendelian dis­ orders but they are discussed in this volume because prevention is possible by antenatal diagnosis and subsequent interruption of the pregnancy if re­ quested by the future parents. Further views on antenatal diagnosis notably in inborn errors of metabolism are presented in a following chapter.Table of ContentsHuntington’s chorea.- Dystrophia myotonica.- Retinoblastoma.- An approach to the problem of hereditary and non-hereditary retinoblastoma.- Screening for phenylketonuria.- The early diagnosis and prevention of cystic fibrosis.- Sphingolipidoses.- Spina bifida and anencephaly.- Prenatal diagnosis of genetic disease.- Detection of carriers of hemophilia.- Family detection of genetic diseases.- Genetic counseling: present status and future prospects.- Problems of screening for genetic disease.- Population effects of genetic screening.- Panel discussion: Ethical aspects of prevention.- Index of subjects.

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Table of ContentsSession I Physiological Aspects of Nutrition.- Energy requirement.- Trace element nutrition.- Vitamin D: apparent nutrient, hormone and therapeutic agent.- The implications of the membrane localization of vitamin E for its function, uptake and absorption.- Therapeutic effects of linoleic acid.- Protein and amino acids.- Carbohydrates as nutrients.- The requirements for water and salt.- Discussion.- Session II Synthetic Diets.- Synthetic diets in paediatrics.- Synthetic diet in internal medicine.- Ammonia formation in the gut and its importance in low protein diets.- The use of chemically defined elementary diets in surgery.- Synthetic diets in the treatment of inborn errors of metabolism.- Discussion.- Session III Parenteral Nutrition.- General aspects of parenteral nutrition.- Parenteral nutrition in paediatric surgery.- Parenteral nutrition in low birth weight babies.- Parenteral nutrition in low-birth weight infants.- Long-term parenteral nutrition in children.- Supplementary parenteral nutrition in internal medicine. Its effect on caloric and nitrogen balance.- Discussion.- Index of subjects.

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Book SynopsisThis volume contains the proceedings of a postgraduate course for medical practitioners of various specialties. One purpose of the course was to provide factual data on developmental aspects of the brain and behaviour, and about the possible impact of several important categories of internal and environ­ mental factors upon neural development. Another purpose was to indicate the extent and the limitations of the methodology now available for the scientific approach of the study of the development of behaviour. In general the investigator is faced with methodological problems of two types, the proper definition and scoring of behavioural items, and the isolation of the different factors that contribute to a particular behaviour. An example of the latter is given in the very last paper, which is concerned with attempts at unravelling under experimental conditions the contributions made by various influences upon a single sequence of behaviour. The course was held in Leiden in November 1970, and was the third in a series of Boerhaave Courses instigated by the Dutch Growth Foundation. Previous subjects have been 'Somatic growth of the child' (in 1964) and 'Human body composition' (in 1967). The programme was planned in collaboration with Prof. Dr. H. H. van Gelderen, Dr. D. G. Lawrence, Prof. Dr. F. J. Monks, Prof. Dr. H. F. R. Prechtl and Prof. Dr. H. K. A. Visser. Financial support was given by the pharmaceutical firms Philips-Duphar, Sandoz and Specia, and by the Dutch Growth Foundation. Major editorial contributions were made by Anneke Bot.Table of ContentsSomatic development and the study of the central nervous system.- Undernutrition and the developing brain: the use of animal models to elucidate the human problem.- Effects of early malnutrition on general development in animals.- Postnatal growth and development in small-for-date babies.- On the structure, development, and connections of the limbic system.- Behavioral assessment in infancy.- Manual to accompany newborn behavioral and neurological scales.- Motor behaviour in relation to brain structure.- Neurological criteria for the estimation of the post-menstrual age of newborn infants.- Neurological follow-up of infants born after obstetrical complications.- Observations of free-field behaviour in preschool boys and girls in relation to neurological findings.- Genetic influences on development of behavior.- Non-genetic prenatal influences on psychological development.- Comment.- Congenital deafness and disturbed psychomotor development.- Effects of congenital blindness on development of behaviour.- The influence of emotional deprivation on growth and behaviour.- Neuroendocrine factors and the ontogeny of behavior.- The effects of early hypothyroidism on IQ, school performance, and electroencephalogram pattern in children.- Pituitary-adrenal hormones and behaviour.- Hormonal and social determinants of sexual behavior in the pigtail monkey (Macaca nemestrina).- Index of subjects.

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Book SynopsisThe course of history is never one of smooth progression. Periods of relative quietness are interrupted by periods of wars and revolution. This pattern resembles that of a river which, before flowing into the delta, has to pass countless rapids. The same holds for the development of the science of medicine. In obstetrics some of these 'revolutions' or 'rapids' consist of the introduction of conservative obstetrical treatment by Lucas Johann Boer at the beginning of the nineteenth century, the discovery of the cause of puerperal sepsis by Oliver Wendell Holmes and Semmelweiss between 1843 and 1847, the introduction of the principle of asepsis by Pasteur in 1874, the introduction of prenatal care at the end of the nine­ teenth and the beginning of the twentieth century (Mijnlieff, Treub, De Snoo), the improvement of surgical techniques, the possibility to treat shock by bloodtransfusion, and, finally, the acquisition of new means for the effective therapy of infection. All these developments have led to a sharp reduction of maternal and perinatal mortality. In this connection it must be pointed out that such a reduction could never have been accomplished without the favourable social changes as a result of which medical and prenatal care could be made universally available. In recent years there has been another revolutionary develop­ ment in obstetrics. Two factors have been responsible for this: the ap­ plication of basic sciences in obstetrics, and the dissolution of the isolation with respect to other clinical disciplines.Table of ContentsPreface.- Gas exchange between mother and foetus and placental design.- Glucose metabolism in the foetus in physiological and pathological circumstances.- Intrauterine pressure and the human foetus.- Foetal heartmonitoring and biochemical examination of the child during labour.- Iatrogenic fetal hypoxia.- The influence of anesthetic drugs on the foetus and newborn.- The influence of anesthesia on the acid-base values of mother and child.- Treatment of asphyxia of the newborn.- The incidence and treatment of hypoglycemia in the newborn.- Panel discussion Part I.- Panel discussion Part II.- Comparison of ventilators for newborns and prematures.- Artificial ventilation of infants.- Pathological findings in ventilated newborns.- Summing-up.- Panel discussion.- Index of subjects.

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Table of ContentsThe 23rd Annual Symposium of the SSIEM: Liverpool.- to recombinant DNA.- Human biochemical genetics of enzyme proteins in the new age of molecular genetics.- Direct DNA analysis in family studies.- Application and limitations of direct DNA analysis in genetic prediction.- DNA analysis for ornithine transcarbamylase deficiency.- Molecular genetics of PKU.- Human DNA repair defects.- Molecular basis of ai-antitrypsin deficiency and its potential therapy by gene transfer.- Direct alteration of a gene in the human genome.- Diabetes mellitus, atherosclerosis, and the 5’ flanking polymorphism of the human insulin gene.- Workshop on Screening for Congenital Adrenal Hyperplasia (steroid 21-hydroxylase deficiency).- Clinical aspects of congenital adrenal hyperplasia: early diagnosis and prognosis.- Biochemical aspects of congenital adrenal hyperplasia.- Large-Scale Pilot Studies.- Review of CAH screening programmes and the Scottish experience.- Neonatal screening programme for congenital adrenal hyperplasia in a homogenous Caucasian population.- Neonatal screening for congenital adrenal hyperplasia: a pilot study in France.- Existing Clinical Diagnoses.- Congenital adrenal hyperplasia in Birmingham: a retrospective analysis (1958-1985).- Prevalence of adrenal 21-hydroxylase deficiency in neonates born in the West Midlands: a retrospective study.- Clinical Symposium - Phenylketonuria.- and explanation.- Maternal phenylketonuria.- Dietary problems of phenylketonuria: effect on CNS transmitters and their possible role in behaviour and neuropsychological function.- Diagnosis in relationship to treatment of hyperphenylalaninaemia.- Problems related to diet management of maternal phenylketonuria.- Short Communications.- Preface and Free Communications.- Molecular biology of phenylalanine hydroxylase.- Hepatic phenylalanine hydroxylase and dietary tolerance in hyperphenylalaninaemic patients.- Phenylalanine metabolites in treated phenylketonuric children.- Magnesium-deficient rickets in a phenylketonuric patient on dietary treatment.- Termination of strict diet in phenylketonuria: neurophysiological, psychological and biochemical studies.- Effects of stopping phenylalanine-restricted diet on intellectual progress of children with phenylketonuria.- Maternal hyperphenylalaninaemia: dietary treatment during pregnancy.- Maternal hyperphenylalaninaemia in Israel.- Maternal phenylketonuria with increased tyrosine supplements.- Screening for phenylketonuria in Yugoslavia (SR Croatia) 1979–1984.- Incidence of phenylketonuria and hyperphenylalaninaemia in a sample of the Turkish newborn population.- Atypical phenylketonuria with mild mental retardation caused by tetrahydrobiopterin deficiency in a Chinese family.- Dihydropteridine reductase deficiency: clinical, biochemical and therapeutic aspects.- Partial dihydropteridine reductase deficiency and mental retardation.- Urine amino acid analysis by HPLC in the investigation of inborn errors of metabolism.- Plasma amino acid patterns in critically ill children.- Treatment of hereditary tyrosinaemia (fumarylacetoacetase deficiency) by enzyme substitution.- Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia.- A new case of hyperlysinaemia with saccharopinuria.- Failure of early diazepam treatment in a neonate with non-ketotic hyperglycinaemia.- Gyrate atrophy of the choroid and retina: 3 cases in one Italian family.- Methylenetetrahydrofolate reductase and methyltetrahydrofolate methyltransferase in human fetal tissues and chorionic villi.- Kinetic studies on the glucose-6-phosphate transport system in rat hepatic microsomal membrane.- Long term cornstarch therapy in glycogen storage disease types I, lb and III.- Galactose-l-phosphate-uridyl transferase activity in chorionic villi: a first trimester prenatal diagnosis of galactosaemia.- Molecular heterogeneity of McArdle disease.- Decreased affinity of phosphorylase ? for glucose-1 -phosphate in polymorphonuclear leukocytes of patients with glycogenosis type VI.- The diagnosis and treatment of a patient with medium-chain acyl-CoA dehydrogenase deficiency: overnight fasting does not result in the expected urinary metabolite profile.- A new case of familiar C6-C14 dicarboxylic aciduria with favourable evolution.- Pyruvate carboxylase responsive to ketosis in a multiple carboxylase deficiency patient.- Neonatal screening for biotinidase deficiency: an update.- GM2 gangliosidosis with hexosaminidase A and B defect: report of a family with motor neuron disease-like phenotype.- A comparison between hepatocytes and macrophages of sphingomyelin, cholesterol and acid lipase in various types of Niemann-Pick disease.- Juvenile dystonia without vertical gaze paralysis: Niemann-Pick type C disease.- Pre- and postnatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome via a simple method directly demonstrating the presence or absence of peroxisomes in cultured skin fibroblasts, amniocytes or chorionic villi fibroblasts.- Impaired cholesterol side chain cleavage activity in liver from patients with cerebro- hepato-renal (Zellweger) syndrome in relation to the accumulation of di- and trihydroxycoprostanoic acid in serum.- Deficiency of dihydroxyacetonephosphate acyltransferase and catalase-containing particles in patients with infantile Refsum’s disease.- Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata.- Cytogenetic studies of three families with ataxia-telangiectasia (Louis-Bar syndrome).

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Book SynopsisL. B. STRANG The past 25 years have seen a remarkable growth in our knowledge of lung development in its structural, physiological and biochemical dimensions. Much of the impetus for research leading to new knowledge has derived from the perception that many respiratory disorders in the newborn infant are due to defective development or maladaption of some component or components of the respiratory system. Thus, to cite one example, surfac­ tant deficiency is clearly seen to be the cause of atelectasis in hyaline mem­ brane disease; and to cite another, it is widely accepted that the mechanisms controlling patency of the ductus arteriosus and pulmonary vascular resistance also determine the right-to-Ieft or left-to-right shunting frequently observed in the course of neonatal respiratory disorders. There are, however, areas of physiological knowledge - such as those relating to respiratory control and to liquid formation and absorption - which are clearly of great relevance to lung adaptation at birth but where it has not yet proved possible to link a specific clinical state to the malfunction of a particular mechanism. In planning this symposium an attempt was made to organize the material in an orderly manner, starting with the embryonic and fetal stages of growth and development, continuing with respiratory control and the role of surfactant in lung aeration at birth, and ending with the treatment of neonatal respiratory disorders.Table of Contents1. Lung embryogenesis and differentiation.- Discussion.- 2. Differentiation of the pulmonary epithelium.- Discussion.- 3. Factors affecting fetal lung growth.- Discussion.- 4. Postnatal lung development and modulation of lung growth.- Discussion.- 5. The secretion and absorption of fetal lung liquid.- Discussion.- 6. Development of epithelial ion transport in fetal and neonatal airways.- Discussion.- 7. Analysis of ion and fluid transport across a vertebrate pulmonary epithelium studied in vitro.- Discussion.- 8. The maturation of the control of respiration in infancy.- Discussion.- 9. Establishment of the end-expiratory level (FRC) in newborn mammals.- Discussion.- 10. Postnatal development of lung function.- 11. Alveolar ventilation in newborns and its post-natal development.- Discussion.- 12. Some relationships among structure, composition, and functional characteristics of lung surfactant.- Discussion.- 13. Aspects of surfactant metabolism in the adult and perinatal lung.- Discussion.- 14. myo-Inositol and perinatal development of surfactant.- Discussion.- 15. Absorption of fetal lung liquid and exogenous surfactant in premature lambs.- Discussion.- 16. Surfactant inhibitory plasma-derived proteins.- Discussion.- 17. Surfactant replacement: theory and practice.- Discussion.- 18. The Cambridge experience of artificial surfactant.- Discussion.- 19. Surfactant supplementation: Toronto trial.- Discussion.- 20. Mechanical ventilation: the role of high-frequency ventilation.- Discussion.

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Book SynopsisPerinatal Medicine is a relatively new specialty, sited between the mechanistic approach of traditional obstetrics and the anticipatory and preventative out­ look expressed in the study of fetal growth which extends into monitoring neo­ natal progress and development. It is of primary importance that obstetricians and neonatologists should think alike and should not allow their interests to develop along separate lines. Frequent clinical consultations with neonat­ ologists cooperating in prenatal care and obstetricians visiting the special nur­ sery on a regular basis are essential if every fetus is to reach its full potential. Such aims have been advanced by previous European Congresses and it was our privilege in Dublin to host the IXth Congress held at the Royal Dublin Society from September 3rd to 5th 1984. Over nine hundred delegates rep­ resenting thirty-nine countries attended the scientific and social programme. The theme of the congress was the mature baby. The organizers felt that while major advances had been made in the management of prematurity there were still far too many mature fetuses dying and too many deaths in the nor­ mally formed appropriate weight for gestational age neonate. Hence antenatal fetal assessment, the management of labour including electronic monitoring in normal women and asphyxial brain damage were major topics. Pregnancy hy­ pertension, caesarean section, breech presentation, diabetes and unexplained mature stillbirth were workshop topics.Table of ContentsSection 1 Main Lectures.- 1. Randomized trial of fetal monitoring.- 2. The contribution of perinatal physiology to clinical practice.- 3. The importance of the infant’s condition at birth.- Section 2 Management of childbirth in normal women.- Chairman’s introduction.- 4. Active involvement in Dublin.- 5. Aspects of monitoring in normal labour.- 6. Management in Pithiviers.- 7. The third stage and fetal adaptation.- 8. The Netherlands as an obstetric experiment.- Chairman’s Summary.- Section 3 Antenatal Fetal Assessment.- 9. Fetal and neonatal assessment.- 10. The value and interpretation of fetal heart rate patterns.- 11. Antenatal assessment of fetal health using dynamic real-time ultrasound.- 12. Assessment of adaptation to extrauterine life in clinics without integrated neonatology.- Section 4 Asphyxial Brain Damage.- Chairman’s introduction.- 13. Pathophysiological aspects of asphyxial brain damage.- 14. Acidaemia and its neurological effects.- 15. The role of technology in detection and management — techniques of investigation.- 16. Outcome and long term follow-up.- Section 5 Hypertension in Pregnancy.- Chairman’s introduction.- 17. The follow-up of patients with severe pre-eclampsia.- 18. Hypertension-related perinatal mortality in Alberta.- 19. The effect of hypertension on the uteroplacental vasculature.- 20. A critical appraisal.- 21. Conservative management of pre-eclampsia: maternal risk.- Section 6 Indication for Caesarean Section.- Chairman’s introduction.- 22. Trends and variations in the use of caesarean delivery.- 23. Evolution of caesarean section in France.- 24. Caesarean section and perinatal mortality rates.- 25. Situation in the German Federal Republic.- 26. The European survey of obstetrical interventions.- Chairman’s summary.- Section 7 Persistent Fetal Circulation.- 27. Physiological control of the pulmonary circulation.- 28. Persistent fetal circulation — aetiology.- 29. Persistent fetal circulation complicating other neonatal lung disorders — definition and diagnosis.- 30. Treatment of persistent fetal circulation.- Chairman’s summary.- Section 8 Management of Breech Delivery.- Chairman’s introduction.- 31. The obstetric management of the premature breech.- 32. The pediatric approach to the premature breech.- 33. The obstetric management of the mature breech.- 34. The term breech: subsequent growth and development.- 35. The term breech: results of psychological assessment at 4 years of age.- Section 9 Perinatal Audit.- 36. Perinatal audit: an overview.- 37. Use of routinely collected data for perinatal surveillance.- 38. The use of tracer conditions to assess the quality of perinatal care.- 39. The role of collaborative clinical trials for auditing perinatal practice.- Chairman’s summary.- Section 10 Diabetes in Pregnancy.- Chairman’s introduction.- 40. Pregnancy in the clinical diabetic.- 41. Tight metabolic control during early pregnancy prevents malformation in offspring of insulin-dependent diabetic women.- 42. Long term morbidity in infants of diabetic mothers.- Section 11 Surfactant.- Chairman’s introduction.- 43. Human surfactant.- 44. The Cambridge experience of artificial surfactant.- 45. Overview of surfactant replacement therapy.- 46. Surfactant replacement studies in Belfast.- Section 12 Perinatal Training.- 47. Higher training in fetal medicine in Britain.- 48. Perinatal training in Germany.- 49. Training in perinatal pediatrics.- 50. Subspecialization of neonatologists.- 51. Training of neonatologists in the USA.- Section 13 Unexplained Mature Stillbirth.- 52. Incidence of stillbirths in singletons and twins: national Swedish data — a preliminary report.- 53. Clinical characteristics of unexpected intrauterine death.- 54. Unexplained mature stillbirth: review of clinical and laboratory data.- 55. Pathological investigations.- Chairman’s summary.

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Book SynopsisIt is almost twenty years ago since under Nutricia's auspices the first Nutricia Symposium took place. Professor Jonxis was mainly responsible for the organiza- tion of the earlier symposia, whilst Professor Visser organized the fifth Nutricia Symposium in 1978. This book is the commitment to paper of the lectures given during the sixth Nutricia/Cow & Gate Symposium held in Louvain in 1983. Both Professor Eeckels and Professor Ransome-Kuti succeeded in collecting a panel of experts on 'Child Health in the Tropics'. We hope, in fact we are sure, that you will consider the contents of this book a daily stimulation in your medical profession. October 1984 Contents Preface...V List of authors ...XI List of participants...XIV SESSION I FEEDING, FEEDING PRACTICES AND GROWTH Chairman: Chap-Yung Yeung A. Omololu, The practice of breastfeeding ...3 M. G. M. Rowland, S. G. l. Goh, S. Tullock, D. T. Dunn and R. l. Hayes, Growth and weaning in urban Gambian infants...9 W. Klaver, Some considerations on the formulation of weaning mixes. . 19 R. G. Hendrickse, The influence of mycotoxins on child health in the tropics...29 V. S. Tanphaichitr, C. Tuchinda, V. Suvatte and S. Tuchinda, Bodily growth in thalassemia ...43 L. Sinisterra, Ecological evaluation of human development: the case of the child in the tropics...51 SESSION II DIARRHOEAL DISEASES Chairman: o. Ransome-Kuti A. M. Molla, S. A. Sarker, A. Molla, M. Kathoon, W. B.Table of ContentsSession I Feeding, Feeding Practices and Growth Chairman: Chap-Yung Yeung.- The practice of breastfeeding.- Growth and weaning in urban Gambian infants.- Some considerations on the formulation of weaning mixes.- The influence of mycotoxins on child health in the tropics.- Bodily growth in thalassemia.- Ecological evaluation of human development: the case of the child in the tropics.- Session II Diarrhoeal Diseases Chairman: O. Ransome-Kuti.- Rice based oral rehydration therapy in acute diarrhoea: a superior therapy and a medium for calorie supplementation.- Acute infantile gastroenteritis in Hong Kong.- Diarrhoeal diseases in children and oral rehydration in Nigeria.- Diarrhoeal diseases in Pakistani children.- Diarrhoeal diseases and mortality in infants and children.- Acute diarrhea in the Dominican Republic.- Effect of nutritional status of children on intake and absorption of nutrients.- Session III Nutrition Chairman: J.H.P. Jonxis.- Methods for evaluating nutrition and health status.- Assessing nutrition at village level.- A study of some aspects of marginal malnutrition amongst Egyptian infants and young children.- Epidemiology and clinical assessment of vitamin deficiencies in Thai children.- Some aspects of protein-energy malnutrition in the highlands of Central Africa.- Perspectives on world malnutrition.- Session IV The Newborn Infant Chairman: O.P. Ghai.- Sources of excess low birth weight in developing countries.- Some aspects of perinatal growth: can perinatal health be measured in kilograms?.- Maturity of the Nigerian newborn infant.- Neonatal intensive care in the developing countries: conservative or agressive approach.- Determinants of fetal growth and early-postnatal growth in a rural area of Indonesia.- The pregnancy monitoring chart: an approach to reduce the prevalence of low birth weight by village cadres.- The mother-infant dyad in Madura, Indonesia: nutritional aspects.- Erythrocyte glucose-6-phosphate dehydrogenase (G6PD) deficiency and neonatal hyperbilirubinaemia.- Session V Training and Teaching — Primary Health Care Systems Chairman: R.G. Hendrickse.- Training of overseas paediatricians in the U.K.: relevance to primary child health care.- Nutrition in primary health care: functional analysis.- Primary health care in the hospital.- Utilisation of child health services in developing countries.- What has medicine in the Western World learned from work in developing countries?.- Summing up and conclusions.- Index of subjects.

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Book SynopsisThe first symposium of the Society for the Study ofInborn valuable overview of advances in the application of Errors of Metabolism (SSIEM) on the organic acid urias chemical analysis of amniotic fluid to their early prenatal was held in Leeds in 1971 and published by the Society in diagnosis. The continuing complexity of diagnosis, 1972 (the 9th Annual SSIEM Symposium). Although biochemistry and aetiology ofthe dicarboxylic acid urias relatively few of these disorders were recognized at that has been admirably reduced by the papers from Dr time, the symposium was prompted by the then recent Gregersen and Dr Goodman, with Dr Goodman clearly identification between 1966 and 1970 of isovaleric identifying the primary defect in the polycystic variant of acidaemia, methylmalonic aciduria, propionic aci- multiple acyl CoA dehydrogenase deficiency ("glutaric daemia, pyroglutamic aciduria and 3-methylcrotonyl- aciduria type II") as a deficiency of electron transfer glycinuria. Identification and diagnosis of diseases of this flavoprotein (ETF) dehydrogenase. Dr Engel's paper kind had greatly improved primarily through the also provides a useful overview from currently available application of gas chromatography and mass spectro- data of the place of L-carnitine in the organic acid urias, metry to medicine, although the complexity of the an area in which rapid developments are occurring. The underlying biochemistry and the genetic heterogeneity of emerging understanding of the aetiologies of the the organic acidurias was not then realised.Table of ContentsPreface.- Section I: Clinical aspects: management and outcome.- Neonatal management of organic acidurias. Clinical update (Hudson Memorial Lecture).- Long term outcome of organic acidurias: survey of 105 French cases (1967-1983).- The management and long term outcome of organic acidaemias.- Prenatal diagnosis of the organic acidurias.- Symptoms and signs in organic acidurias.- Section II: Dicarboxylic acidurias and acyl-CoA dehydrogenase deficiencies.- Fatty acyl-CoA dehydrogenase deficiency: enzyme measurement and studies on alternative metabolism.- Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency).- Carnitine metabolism and inborn errors.- Gas chromatography—mass spectrometry (GC—MS) diagnosis of 2 cases of medium chain acyl-CoA dehydrogenase deficiency.- The differential diagnosis of dicarboxylic aciduria.- Animal models for dicarboxylic aciduria.- Section III: Disorders of the respiratory chain and the lactic acidaemias.- Mitochondrial oxidative phosphorylation and respiratory chain: review.- Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation.- Lactic acidaemia.- Pyruvate carboxylase deficiency.- Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.- Section IV: A new disorder: 4-hydroxybutyric aciduria.- Clinical review.- Biochemical findings.- Enzymology and mode of inheritance.- Section V: Short Communications.- Preface to Short Communications.- Free Communications.- Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria.- Glutaric aciduria type II: multiple defects in isolated muscle mitochondria and deficient ?-oxidation in fibroblasts.- Glutaryl CoA dehydrogenase activity determined with intact electron-transport chain: application to glutaric aciduria type II.- Medium chain acyl-CoA dehydrogenase deficiency: apparent Km and Vmax values for fibroblast acyl-CoA dehydrogenase towards octanoyl-CoA in patient and control cell lines.- Mitochondrial myopathy with partial cytochrome oxidase deficiency and impaired oxidation of NADH-linked substrates.- L-Carnitine insufficiency in disorders of organic acid metabolism: response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduria.- An evaluation of urine lactate for detection of inborn errors of metabolism.- Metabolic acidosis versus a compensation of respiratory alkalosis in four children with Leigh’s disease.- Chemical diagnosis of dihydrolipoyl dehydrogenase deficiency.- 3-Hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids can be non-specific indicators of metabolic disease.- Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.- Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin.- Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.- Organic acids in urine: sample preparation for GC/MS.- Experience with prenatal diagnosis of propionic acidaemia and methylmalonic aciduria.- Methylmalonic aciduria with homocystinuria.- Two cases of ß-ketothiolase deficiency: a comparison.- L-Glyceric aciduria (primary hyperoxaluria type 2) in siblings in two unrelated families.- The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC—MS assay for succinylacetone.- The enzyme defects in hereditary tyrosinaemia type I.- The possibility for prenatal diagnosis of PKU by linkage analyses based on phenylalanine hydroxylase locus specific DNA-polymorphisms.- Complementation between argininosuccinate synthetase-deficient and argininosuccinate lyase-deficient fibroblasts depends on intercellular communication.- Molecular lesion of non-ketotic hyperglycinaemia.- Prolidase deficiency: detection of cases by a newborn urinary screening programme.- Type Ib glycogen storage disease: an in vivo and in vitro study of two cases.- The lactate concentration of the urine, a parameter for the adequacy of dietary treatment of patients with glucose-6-phosphatase deficiency.- Sorbitol dehydrogenase deficiency in a family with congenital cataracts.- Thiamin-responsive megaloblastic anaemia: a disorder of thiamin transport?.- Acid esterase deficiency: comparison of biochemical findings in infantile and adult forms.- Steroid sulphatase deficiency. Steroid sulphatase and arylsulphatase C determination in normal and affected fibroblasts.- Steroid sulphatase deficiency is present in patients with the syndrome’ ichthyosis and male hypogonadism’ and with’ Rud syndrome’.

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Book SynopsisThis book tries to trace the course of social development in the child from birth to maturity. It assumes that the neonate comes into the world with the endowment and the need to contact others, to attach itself to the surrounding humans and by this very endowment enforces these humans to attach themselves to it. The book follows the main vicissitudes in this process and describes in short outlines some of the disturbing manifestations of failure at different ages in the smooth progress of socialization - the process by which the child adapts to the requirements of the social group of which he is a member. In accordance with recent studies the book stresses the influence on social development of the wider environment. It is no longer believed that the quality of the early mother­ child relationship exclusively determines all later develop­ ment. The book also surveys the present state of assessment and treatment methods and tries to indicate where short intervention by the developmental paediatrician might be sufficient and where more long-term intensive treatment by specialists would be needed. The author agrees with A. M. and A. D. B. Clarke (1976) that early experiences, though powerful, are not irreversible, and that with changes in environmental circumstances, and with under- 9 Social development standing of the main causal factors for the deviance, the effect of adverse early events may be modified and develop­ ment towards normal social progress may to some extent be restored.Table of ContentsAcknowledgements.- 1 Communicating with the infant.- 2 Attachment and the growth of fear.- 3 Separation experiences.- 4 First steps to independence.- 5 Who am I? The establishment of identity.- 6 The middle school years.- 7 Social adjustment in adolescence.- 8 Assessment and treatment.- References.

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Book SynopsisThe maltreatment of children is an issue that has always been with us and civilized societies provide a range of services both social and medical to care for the children and families afflicted. In recent years, greater attention has been drawn to the medical aspects by competent authorities in the fields of forensic medicine, forensic psychiatry, epidemiological psychiatry, child psychiatry and family psychiatry; as well as the social aspects by those child welfare and child care agencies who have the difficult and distasteful task of removing children, with the help of the courts, from parents who can abuse them and are not able to care for them adequately. A multitude of social agencies, whose range of ac­ tivities involve both the care and, where possible, the social betterment of afflicted families are now involved. Not least in importance is an increase in our global knowledge to help in the prevention or better treatment of these problems. This means more informa­ tion on familial and genetic factors in human central nervous system develop­ ment in its broadest sense. This would include how the central nervous system originates, mediates and controls the build up, speed of development and im­ pulsive release, mastery and direction of aggressive drives and impulses. Very little is so far known about these factors.Table of Contents1. Introduction — a child speaks.- 2. Child abuse and neglect — medical aspects.- 3. Radiological and pathological aspects of the battered child syndrome.- 4. Management of the problem.- 5. The epidemiology of child abuse.- 6. The extent of child abuse.- 7. The psychiatrist’s viewpoint.- 8. The psychological aspects of child abuse.- 9. The needs of children.- 10. Child abuse, neglect and deprivation and the family.- 11. Medical-legal and societal problems involving children — child prostitution, child pornography and drug-related abuse; recommended legislation.- 12. The contributions of the social agencies and the social worker.- 13. The emergence of the child as a legal entity.- Appendix J. E. Oliver.

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Book SynopsisThe study of inherited metabolic disease became a subject of more than academic interest in 1953 when Bickel, Gerrard and Hickmans dis­ covered that the totally disabling consequences of phenylketonuria could be prevented if treatment was instituted in the first months of life. This required the widespread screening of all newborn babies and 7 years later this had been successfully achieved in the United King­ dom. The next 10 years was a period of consolidation: screening methods were improved and extended to include other disorders; treatment of phenylketonuria was vastly improved with the stimulus of the increasing numbers of patients being detected, and research into new forms of therapy for some of the other disorders being detected has been initiated. The success of this scheme is illustrated by the remarkable achievement reported by the Phenylketonuria Registry referred to in the present volume. But at what cost has this progress been made? It is unnecessary to discuss the financial cost for many of the developments would not have been started if their economic value in the system of health care had not been unequivocally established.Table of ContentsThe Nature and Size of the Problem.- 1 The need for a national policy for the management of inherited metabolic disease.- 2 Genetic screening and allied services: structure, process and objective.- Present Methods of Management.- 3 The role of the paediatrician.- 4 Management of dietary treatment in the home.- 5 Residential management.- Community Reaction to Present Practice.- 6 Parent reaction to medical care and screening.- 7 Screening for Tay—Sachs disease.- 8 Genetic counselling clinics.- 9 The coming of the second genetic code: eugenic abortion in the United Kingdom.- Aspects of Management Requiring Central Policy.- 10 The basis for prescriptive screening.- 11 Resources for nutritional treatment: basic principles and a national ‘Food Bank’.- 12 Detection of heterozygotes.- 13 Prenatal diagnosis.- 14 The phenylketonuria register for the United Kingdom.- 15 Computerized central registers.- 16 Mechanized storage and retrieval of information.- 17 Computer-aided diagnosis of inherited metabolic disease.- The Fourth Milner Lecture.- 18 The biochemical autopsy: a tool for studies of genetically-determined brain disorders.

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Book SynopsisThe rapid growth of immunology has greatly increased our understanding of disease; this growth has also generated a subject which at times appears separated from some of the basic medical sciences. Recent studies in the areas of purine metabolism and of polymorphonuclear neutrophil phago­ cyte function have, however, linked immunology and clinical medicine with biochemistry. The precise defects of the inborn errors of metabolism have now provided good evidence for the importance of purine metabolism specifically the enzymes adenosine deaminase and nucleoside phosphorylase in lymphocyte function. In view of this and the steady advance of clinical and biochemical investigation of the polymorphonuclear neutrophil phago­ cyte, it appeared timely to review the inborn errors of immunity and phagocytosis at the fifteenth annual symposium of the Society for the Study of Inborn Errors of Metabolism at Elsinore, Denmark on September II-14th, I~77. The papers presented at that meeting form the basis of this volume which brings together contributions from immunologists, biochemists and clinicians. This interdisciplinary communication should be helpful to those concerned with immune function in their patients or in the laboratory. The book is divided into four sections, One: defects of cell-mediated immunity, Two: enzyme defects and immunodeficiency, Three: disorders of non-specific immunity and Four: screening for immunodeficiency. Section One contains two reviews, one on immunodeficiency from Robert Good's group in New York and another on the genetics of the immune system from Arne Svejgaard of Copenhagen.Table of ContentsSection One Defects of Cell-mediated Immunity.- 1 Immunodeficiency diseases — a review.- 2 Genetics of the immune system.- Section Two Enzyme Defects and Immunodeficiency.- 3 Inborn errors of specific immunity: adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency — The Milner Lecture.- 4 Adenosine deaminase deficiency: enzyme replacement therapy and investigations of the biochemical basis of immunodeficiency.- 5 Prenatal diagnosis and heterozygote detection in adenosine deaminase deficiency.- 6 Pathogenic mechanisms in deficiencies of adenosine deaminase and purine nucleoside phosphorylase.- 7 Purine nucleoside phosphorylase deficiency associated with cellular immunodeficiency: immunological studies during treatment.- 8 Purine nucleoside phosphorylase deficiency associated with cellular immunodeficiency: metabolic studies during treatment.- 9 Severe combined immunodeficiency with B lymphocytes: a selective defect of precursor T cells.- 10 Purine metabolism and the control of lymphocyte proliferation. Effects of exogenous adenosine on normal human lymphocytes.- 11 Activity of adenosine deaminase and purine nucleoside phosphorylase in lymphocytes of man, horse and cattle.- 12 Ageing and activities of purine metabolizing enzymes in leukocytes.- 13 Immune function in Down’s syndrome.- Section Three Disorders of Non-specific Immunity.- 14 Morphological and biochemical alterations of polymorphonuclear neutrophil (PMN) leukocytes from patients with inborn errors of phagocytic function: a comprehensive review.- 15 Experimental approaches to the role of mononuclear phagocytes in non-specific immunity.- 16 Molecular bases of the metabolic excitability of phagocytes.- 17 Chronic granulomatous disease — biochemistry with special reference to oxygen metabolism.- 18 The protective role of glutathione.- 19 Defective initiation of the metabolic stimulation in phagocytizing granulocytes.- 20 Modification of genetic expression in phagocytes.- 21 Neutrophil granulocyte chemotaxis in a reversible Boyden chamber.- 22 Simplified tests of leukocytic function.- 23 Antigen-induced neutrophil dysfunction in a patient with chronic eczema, recurrent ‘cold’ staphylococcal infections and hyperimmunoglobulinaemia E.- 24 Lack of myeloperoxidase-mediated iodination in granulocytes from a patient with generalized pustular psoriasis.- 25 Functional characteristics of neutrophil granulocytes from children with recurrent respiratory infections.- 26 Pneumocystis carinii infection in a girl with chronic granulomatous disease treated with transfusions of granulocytes.- Discussion.- Section Four Screening for Immunodeficiency.- Round Table Discussion.

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Book SynopsisHyperactivity has historically been a major concern of parents and teachers. Over the years, the term has come to mean many things to different persons. For some, the term is synonymous with "brain damage," and the prescribed course of treatment is medical. For others, the term is a catch­ all, covering almost any behaviors that are found to be obtrusive or disrup­ tive by the child's caretakers. In recent years, there has been a great outcry by some over the use and abuse of the term as a justification for controlling the child. Others have expressed great concern over the excessive, inappro­ priate, or poorly monitored use of drug therapy with regard to hyperactivity. The current interest in hyperactive children is reflected in several major books (Cantwell, 1975; Feingold, 1975; Fine, 1977; Ross and Ross, 1976; Wender, 1973; Safer and Allen, 1976; Stewart and Olds, 1973). The num­ ber of published papers and symposia over the last several years is also voluminous. The main questions posed by practitioners revolve around intervention with the hyperactive child. The growing literature on intervention has identified a variety of approaches with demonstrated utility; including drug therapy, behavior modification, biofeedback, sensory-motor training, cog­ nitive training, environmental manipulations, and family therapy.Table of ContentsI Introduction.- 1. The Hyperactive Child.- II Case Studies.- 2. Behavioral Approaches to Hyperactivity.- Case Study #1. The Use of School and Home Management Programs to Diminish the Inappropriate Behavior Emitted by an Eight- Year-Old Hyperactive Student.- Case Study #2. The Use of Activity and Token Reinforces to Increase the Reading Achievement and Appropriate Social Behavior of a Seven-Year-Old Hyperactive Student.- Case Study #3. Cognitive-Behavior Modification in a Case of Impulsivity/Overactivity.- Case Study #4. The Use of Self-Management to Improve Readmg Skills in a Hyperactive Child.- Case Study #5. Effects of Parent Trainmg on Behavioral Tempo in a Preschool-Aged Boy.- Case Study #6. Contingency Contracting With a Hyperactive Boy and His Parents.- 3. Autogenic Training: Learning Body Control.- Case Study #7. The Effects of Biofeedback Training on and Eight-Year-Old Boy.- Case Study #8. The Use of Biofeedback Training on a Nine-Year-Old Child.- Case Study #9. Relaxation Therapy With a Hyperactive Sk-Year-Old Child.- Case Study #10. The Eclectic Use of Biofeedback, Behavior Therapy and Therapeutic Counseling by a Male/Female Team in Effectively Treating Hyperkinesis.- 4. Psychoeducational Intervention.- Case Study #11. Psychoeducational Programming With a Hyperactive Child.- Case Study #12. Use of a Structured Classroom Approach With a Multisensory Instructional Strategy.- 5. Perceptual-Motor Training.- Case Study #13. Perceptual-Motor Training With a Five- Year-Old Boy.- Case Study #14. Perceptual-Motor Training With a Six- Year-Old Girl.- 6. Ecological Considerations.- Case Study #15. An Ecological Perspective of Hyperactivity in a Preschool Child With Developmental Delay.- Case Study #16. Teacher Consultation as an Intervention With a Hyperactive Second-Grade Boy.- 7. Psychotherapeutic Intervention.- Case Study #17. A Therapeutic, Multi-Faceted Intervention Program With a Preschool Hyperactive Boy.- Case Study #18. Structural Family Therapy With the Family of a Hyperactive Child.- 8. Diet Management.- Case Study #19. Diet Management With an Eleven-Year Old Boy.- Case Study #20. Diet Management With a Seven-Year-Old Boy.- Case Study #21. Treatment of Hyperactivity in a Child With Allergies to Foods.- III Measurement, Diagnosis, and Intervention.- 9. A Review and Appraisal of Instruments Assessing Hyperactivity in Children.- 10. Diagnosis and Intervention: A Summing Up.

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Book SynopsisThe past fifteen years have seen a resurgence of interest in the psychology of female development, impelled by factors both intrinsic and external to psychoanalysis. Within psychoanalysis, increasingly sophisticated formulations regarding ego development and object relations have modified and elaborated drive-oriented conceptualizations of psychosexual development. In addition, the recent focus upon narcissistic and borderline adult pathologies has led to a closer examination of the earliest phases of life, with emphasis upon early mother-child interactions and the nature of early identifications, narcissistic development and the formation of gender identity. The social and cultural changes reflected in the women's movement resulted in widespread charges that Freudian doctrine concerning female development was denigrating and phallocentric; in responding to this challenge, psychoanalytic theorists were stimulated to reconsider established hypotheses that viewed femininity as a secondary, defensive formulation. In addition, new discoveries and reinterpretations relating to fetal development and the physiology of the female orgasm challenged traditional conceptions about the masculine nature of libido. These various strands of developing knowledge and interest intersect in the area of early female development and make it a focal point from which to investigate and resolve major issues in psychoanalytic thinking. As inconsistencies and errors in the classical formulations about female psychosexual development are discovered, and reformulations made through closely detiriled observations based on current theoretical assumptions, they in tum illuminate issues in ego psychology, object relations and narcissistic development, and enlarge the entire body of psychoanalytic theory.Table of Contents1 On the Origins of Gender Identity.- 2 The Anal Phase.- 3 Considerations about the Development of the Girl during the Separation-Individuation Process.- 4 The Inner-Genital Phase — Prephallic and Preoedipal.- 5 A Suggested Developmental Sequence for a Preoedipal Genital Phase.- 6 The Female Oedipus Complex: Its Antecedents and Evolution.- 7 The Latency Period.- 8 Narcissistic Development.

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Book SynopsisThe chapters in this volume are drawn from the presentations delivered at a symposium on Developmental Disabilities in the Preschool Child. This sym­ posium was held under the auspices of The Institute for Pediatric Service of Johnson and Johnson Baby Products. It was co-sponsored by The College of Medicine and Dentistry of New Jersey, Rutgers Medical School, and The In­ stitute for the Study of Exceptional Children, Educational Testing Service. The symposium was held in the Fall of 1979 in Chicago, Illinois and the participants, including Ph. D . 's, Ed. D . 's, and M. D . 's, represented the interdisciplinary approach which characterized the meetings. The interdisciplinary set of speakers was matched by an equally diverse audience who represented almost every profes­ sional group concerned with the needs of disabled children and their families. Because of the successful information exchange that took place, a published volume of the proceedings was determined to be useful for others who were not able to attend. To all those who toil to help developmentally disabled children and their families we dedicate this volume. Michael Lewis Lawrence T. Taft vii CONTENTS Introduction xiii Part I-Sensory Development 1 / Handicapped Child - Facts of Life 3 Me"itt B. Low 2 / Theoretical Issues in the Early Development of Visual Perception 9 Joseph F. Fagan III and Patricia Ann Shepherd 3 / Clinical Appraisal of Vision 35 Richard N.Table of ContentsI—Sensory Development.- 1 / Handicapped Child — Facts of Life.- 2 / Theoretical Issues in the Early Development of Visual Perception.- 3 / Clinical Appraisal of Vision.- 4 / Early Visual Impairment: Research and Assessment.- 5 / Intervention Strategies and the State of Education for the Visually Handicapped.- 6 / Theoretical Issues in the Development of Audition.- 7 / Appraisal of Auditory Function in Children.- 8 / Behavioral Assessment of Infants’ Hearing.- II—Motor Development.- 9 / Theoretical Issues in the Development of Motor Skills.- 10 / Neuromotor Assessment of Infants.- 11 / Intervention for Physically Handicapped Children.- III—Cognitive Development.- 12 / Issues in the Early Development of Intelligence and its Assessment.- 13 / Attention as a Measure of Cognitive Integrity.- 14 / Early Description and Prediction of Developmental Dysfunction in Preschool Children.- 15 / An Information Processing Approach to Infant Cognitive Assessment.- 16 / Effects of Educational Intervention Programs on the Cognitive Development of Young Children.- 17 / The Effects of Educational Intervention on Cognitive Development.- IV—Language Development.- 18 / Theoretical Bases of Language and Communication Development in Preschool Children.- 19 / Clinical Appraisal of Language Functions in the Preschool Child.- 20 / Early Language Intervention: When and How.- V—Affective/Temperament Development.- 21 / Theoretical Perspectives on Emotions in Developmental Disabilities.- 22 / Chnical Appraisal of Temperament.- 23 / Theoretical Issues in Temperament.- 24 / Developmental Disabilities: Intervention Strategies in the Affective Domain.- 25 / Using Our Emotions: Some Principles for Appraising Emotional Development and Intervention.

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Book SynopsisFollowing the pattern of previous years the 11th symposium of the S.S.I.E.M. held in the beautiful sylvan surroundings of Sussex Univ­ ersity, concentrated on a relatively small section of the field of inborn errors. The subject chosen-Inborn Errors of Skin, Hair and Con­ nective Tissue, was a highly topical one. Intensive research during the last few years particularly on the structure and disorders of connective tissue has considerably advanced our knowledge on this subject. We believe that the range of diseases covered, and the depth in which they were discussed, made this meeting unique. The proceedings contain much original material and reference information which should make them an invaluable addition to the literature on metabolic disorders. The work involved is multi-disciplinary involving among others physicists, organic chemists, biochemists, clinical chemists, paedia­ tricians, physicians, geneticists and neurologists. The bringing together of workers of many disciplines to contribute to the particular subject under discussion at our Symposia has always been an important objective of the Society. In this case we were very fortunate in gathering together experts from all the fields mentioned above. In particular we were honoured that Professor A. Dorfman of Chicago could accept our invitation to give the second Milner Lecture. We were also privileged to have some excellent contributions from the research scientists on whom we must rely for our ultimate understanding of the diseases, and rational approach to treatment.Table of ContentsInborn Errors and Skin.- 1 Inborn errors of skin.- Inborn Errors and Hair.- 2 Inherited conditions affecting the proteins of hair.- 3 Some aspects of the use of hair follicles for the biochiemcal study of inborn errors of metabolism.- Inborn Errors of Connective Tissue.- 4 Morphological aspects of the mucopolysaccharidoses.- 5 Glycosaminoglycans of foetal tissue in two cases of Hurler’s syndrome.- 6 The mucolipidioses: with special reference to I-cell disease.- 7 Structure and biosynthesis of collagen.- 8 Biosynthesis of collagen cross-links : relationship of heritable disorders.- 9 Molecular conformations of connective tissue mucopolysaccharides.- 10 Mucopolysaccharides in ageing.- 11 Genetic aspects of mucopolysaccharidoses with special reference to heterozygous carriers.- The Second Milner Lecture.- 12. Genetic defects of the degradation of glycosaminoglycans: the mucopolysaccharidoses.- 13 Chemistry of dermatan sulphate accumulated intracellularly in Hunter’s disease.- 14 The treatment of genetic mucopolysaccharidoses.- Laboratory Aspects of the Mucopolysaccharides Including diagnosis and screening.- 15 The laboratory diagnosis of the mucopolysaccharidoses.- 16 Screening newborns for mucopolysaccharidoses.- 17 Acid glycosaminoglycan excretion in the mucopolysaccharidoses: determination of glycosaminoglycans in urine and amniotic fluid using new micro-analytical techniques.- 18 An evaluation of methods suitable for a clinical laboratory study of abnormal glycosaminoglycan excretion.

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Book SynopsisSurprisingly, the beginning of a modern approach This collection of articles and commentaries is an to the problems of birth defects is relatively recent integration of information from many disciplines, and dates from Gregg's classical report in 1941 that and presents a comprehensive survey of both recent mothers who contracted rubella during the first tri­ and previously reported work related to the major mester of pregnancy gave birth to infants with severe aspects of birth defects. In particular, an attempt multiple anomalies. For the first time, an environ­ has been made to provide a critical assessment of mental agent was found to be teratogenic in man current concepts and to identify areas in need of and was documented in a thoroughly convincing further investigation. manner. Since then, many important discoveries The scope of this volume and space limitations and significant developments have been made, par­ precluded discussion of and reference to all papers ticularly in the areas of environmental teratogenesis, of relevance or importance: a work of the present hereditary mechanisms, and prenatal diagnosis. nature must necessarily be selective. Some good In recent years, there has been an impressive papers have been left out or given relatively little surge of interest in the causes and prevention of consideration. It is my hope that the list of Further birth defects. Undoubtedly this resulted not only References will be consulted and should compensate from the thalidomide tragedy, but also from the for this lack of completeness.Table of ContentsI Beliefs, Mythology, Magic and Superstition.- 1. Congenital malformations in the past.- 2. A brief history of teratology to the early 20th century.- II Epidemiology of Birth Defects.- 3. Classification and nomenclature of morphological defects.- 4. Epidemiologic aspects of the problem of congenital malformations.- 5. Congenital malformations. A report of a study of series of consecutive births in 24 centres. (Extracts).- 6. The incidence of developmental and other genetic abnormalities.- III Teratological Mechanisms.- 7. Interrelation of the common congenital malformations. Some aetiological implications.- 8. Defective regulatory mechanisms in teratogenesis.- 9. Mechanisms of teratogenesis.- 10. Congenital postural deformities: perinatal associations.- IV Cytogenetic and Chromosomal Studies.- 11. A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis.- 12. The detection of chromosomal sex in hermaphrodites from a skin biopsy.- 13. The chromosome number of man.- 14. Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions.- 15. Chromosome abnormality and perinatal death.- 16. Cytogenetics of fetal wastage.- 17. Spontaneous abortion and aging of human ova and spermatozoa.- 18. Where have all the conceptions gone?.- 19. Genetics of common disorders.- 20. Genetic hazards to man from environmental agents.- V Environmental Influences and Congenital Abnormalities.- 21. Pigs born without eye balls.- 22. Congenital cataract following German measles in the mother.- 23. The role of viruses in congenital defects.- 24. Congenital toxoplasmosis. A prospective study of 378 pregnancies.- 25. Therapeutic abortions with a folic acid antagonist, 4-aminopteroyl-glutamic acid (4-amino P.G.A.) administered by the oral route. (Extract).- 26. Diskussionsbemerkung von Privatdozent Dr. W. Lenz, Hamburg, zu dem Vortrag von R. A. Pfeiffer und K. Kosenow: Zur Frage der exogenen Entstehung schwerer Extremitätenmissbildungen.- 27. Thalidomide and congenital abnormalities.- 28. Thalidomide and congenital abnormalities.- 29. Foetal malformations due to thalidomide.- 30. Nonadrenal female pseudohermaphrodism after administration of testosterone to mother during pregnancy.- 31. Masculinization of female fetus due to use of orally given progestins.- 32. Adenocarcinoma of the vagina. Association of maternal stilbestrol therapy with tumor appearance in young women.- 33. Are anti-epileptics harmful in pregnancy? (Extract).- 34. Anticonvulsant drugs and congenital abnormalities.- 35. Congenital abnormalities and anticonvulsant drugs.- 36. A clinical look at the problem of drugs in pregnancy and their effect on the fetus.- 37. Intra-uterine methylmercury poisoning in Iraq.- 38. Assessing the impact of low level chemicals on development: behavioral and latent effects.- 39. A preliminary report of cigarette smoking and the incidence of prematurity. (Extract).- 40. Effect of mothers’ smoking habits on birth weight of their children.- 41. The fetal alcohol syndrome.- 42. Potatoes and spina bifida.- 43. The outcome of 625 pregnancies in women subjected to pelvic radium or roentgen irradiation. (Extract).- 44. Radiation and pregnancy.- VI Detection of Environmental Teratogens.- 45. Environmental factors in the etiology of human malformations: perspectives and problems of evaluation.- 46. Hazards of the first nine months: an epidemiologist’s nightmare.- VII Prenatal Diagnosis and Management of Congenital Abnormalities.- 47. Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases.- 48. Prenatal diagnosis of mongolism by X-ray.- 49. Diagnosis of congenital fetal abnormalities by sonography.- 50. Amniography for detection of congenital malformations.- 51. Diagnosis of human fetal abnormalities by fetography.- 52. Genetic counselling—or what can we tell parents?.- 53. Pre-, peri- and postnatal prevention of major neuropediatric handicaps.- VIII Social, Ethical, and Medico-Legal Problems.- 54. Moral and ethical problems of pre-natal diagnosis.- 55. Attitudes toward defective newborns.- 56. Ethical and social aspects of treatment of spina bifida.- 57. Moral and ethical dilemmas in the special-care nursery.- Further References.

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Book SynopsisThe use of cultured cells in the clinical diagnosis of hereditary metabolic dis­ ease is a rapidly developing subject to which many different disciplines have brought their expertise and knowledge. A number of scientists who have in­ dividually contributed to the growth of the subject gave invited papers at the Fourteenth Symposium of the Society for the Study of Inborn Errors of Metabolism in the University of Edinburgh on 13-16th July, 1976. These papers form the basis of this monograph which brings together contributions from the basic sciences and from physicians concerned primarily with human disease. The cross-fertilization produced by this interdisciplinary communica­ tion was invaluable to those trying to understand and overcome diagnostic problems posed by hereditary metabolic disease. Cell culture methods and cell preservation techniques were described by D. G. Harnden and D. E. Pegg; Dr T. Elsdale outlined some of the factors which control in vitro cell growth and division. Cell culture methods and cryopreser­ vation techniques have allowed the wide distribution of biochemically abnor­ mal cells and their study over long periods of time. It is also evident that when a defect which produces severe metabolic disorder in man can be studied in the laboratory using isolated cell cultures a wide variety of investigative procedures can be focused on to the cellular defect without distress or discomfort to the patient or relatives.Table of ContentsCell Biology.- 1 Cell Biology and Cell Culture Methods—A Review.- 2 Influence of Cell Culture Medium on the Metabolic Behaviour of the Fibroblast.- 3 Density-dependent Growth Regulation in Cultures of Human Diploid Fibroblasts.- 4 Cryopreservation of Tissue Culture Cells.- 5 Tissue Culture in the Study of Neuromuscular Diseases.- 6 Culture of Neurons and Glial Cells.- Biochemistry.- 7 The Biochemistry of Cytodifferentiation: an Outline of Progress.- 8 A Comparison of Leucocytes and Cultured ‘Fibroblasts’ in Diagnosis.- 9 Acid Hydrolase Production, Release and Uptake by Cultured Fibroblasts.- 10 Sulphatase Deficiencies.- 11 Clinical, Biochemical and Genetic Heterogeneity in Gangliosidoses.- 12 The Cell Membrane in Metabolic Control: The Regulation of Cholesterol Biosynthesis in Familial Hypercholesterolaemia.- Milner Lecture.- 13 Newer Developments in Tissue Culture: Further Aid in the Study of Inborn Errors of Metabolism.- Short Papers.

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Book SynopsisThis volume was inspired by an annual meeting of the American Col­ lege of N europsychopharmacology held in Maui, Hawaii. A panel on psychobiological issues of childhood was held, with presentations devoted to antidepressant drug levels in depressed prepubertal children, re­ sponses of normal and hyperactive children to stimulant medication, and the vulnerability of the adolescent offspring of manic-depressive parents to affective illnesses. The session drew a large crowd, and it seemed appropriate to develop these topics in a book. Many of the authors in this volume attended that conference, and the book reflects the fact that psychobiological research in children has moved even further along than was envisioned at Maui. In keeping with developments in the field, this volume surveys key topics of interest, including nosological issues surrounding the attention deficit disorder of childhood, the ontology of neurotransmitter systems in the human brain, and the relation between child psychiatric disorders and sleep patterns. Other studies link the clinical effects of drugs with plasma DBH activity or with attentional measures. The side effects of on growth are examined, as well as the ethical issues involved in drugs on children. These areas continue to be of vital interest.Table of Contents1. Biopsychosocial Aspects of the Hyperactive Child Syndrome.- 2. Ethical Considerations in Psychobiological Research in Children.- 3. The Medical Model: Is It Useful in Child Psychiatry?.- 4. Neurotransmitter Ontogeny as a Perspective for Studies of Child Development and Pathology.- 5. Sleep Studies in Children with Psychiatric Disorders.- 6. Altered Cognitive Processes in Children: Psychobiological Methods of Approval.- 7. Stimulant Related Growth Inhibition in Children: A Review.- 8. Subclassification of Hyperactive Children on the Basis of Minor Physical Anomalies and Plasma Dopamine-Beta-Hydroxylase Activity: An Attempted Replication.- 9. Methylphenidate in Hyperactive and Enuretic Children.- 10. Pilot Trial of Mianserin Hydrochloride for Childhood Hyperactivity.

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Book SynopsisThe frontispiece of this book is called 'The invisible handicap'. Most deaf children, with the exception of very unfortunate multiple-handicap children, look quite normal. The young babies who are sent to my clinics for confirm­ ation (or otherwise) of a hearing loss are very often handsome, delightful infants with no other problems. The deaf child only reveals his handicap when communi­ cation is attempted. At that point the picture changes. To an ill-informed observer this child, who had previously seemed quite normal and who had been seen to be playing normally, suddenl y appears' stu pid'. That, unhappily, is too often the attitude of the general public towards the deaf person. There is far too often a total misunderstanding of the problems of both the deaf child and the deaf adult. It must also be admitted that far too often the speech of the deaf is very ugly and when this is added to their difficulties in verbal comprehension we begin to understand why the attitude of the public at large is ill-judged, intolerant and occasionally even hostile. We must, therefore, aim for three goals. The first must be the ever-increasing education of hearing people about the problems of the deaf, with maximum attempts to involve them with the activities of the deaf community', which has evolved for self-protection and mutual help and under- 11 The development of hearing standing, and which must be opened up to sympathetic hearing people.Table of Contents1 Introductory matters: what is our aim?.- 2 Infants at risk.- 3 The nature of sound.- 4 A physician’s revision of the anatomy of the ear.- 5 When and where?.- 6 Situations for testing.- 7 Taking a history and its importance.- 8 Methods of testing hearing: (a) Distraction techniques.- 9 Methods of testing hearing: (b) Cooperative tests involving speech (c) Conditioning techniques.- 10 Use of the pure tone audiometer.- 11 Causes of hearing loss: (a) Genetic causes.- 12 Causes of hearing loss: (b) Other causes.- 13 The treatment of sensorineural hearing loss: (a) Amplification.- 14 The treatment of sensorineural hearing loss: (b) Auditory training and special education.- 15 Problems of the middle ear.- 16 Deafness associated with mental handicap.- 17 Objective hearing tests.- 18 The deaf child and his family.- Appendix 1: Apparatus.- Appendix 2: Useful addresses.

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Book Synopsisth th st . On December 19 ,20 and 21 1979, we had the opportunlty to organize a Workshop on "Antenatal factors affecting meta­ bolic adaptation to extrauterine life - Role of carbohydra­ tes and energy metabolism". This meeting was made possible thanks to grants from the Committee of Medical Research and Public Health (CRM) of the Commission of European Communi­ ties. We want to express our warmst gratitude for the effort that has been made and we hope that the exchange of information between the participants will allow better understanding of the mechanism of adaptation to extrauterine life and that the conclusions drawn will contribute to a better care of the newborn. Adaptation to extrauterine life is one of the most impor­ tant steps in life. At the moment of birth, numerous conditions are drastically changed and in order to survive the newborn has to rely upon new sources of energy and of substrates. This switch over has to occur smoothly and any adaptation failure will result in the disturbance of impor­ tant metabolic functions. Mortality and morbidity in neo­ natal period remain still very high in comparison with the figures observed later in life; the reduction of mortality has been much more important in child and adult than in neonates.Table of ContentsSession I : Carbohydrate Utilization in the Newborn.- The metabolism of glycogen in the liver of foetal and new-born rats.- Hormonal control of fetal liver glycogen metabolism.- Extrahepatic glycogen stores and their role in homeostasis.- Factors regulating blood glucose in the fetus and in the newborn.- Glucose turnover in the newborn rat.- Factors affecting intra uterine glycogen storage.- Factors affecting glucose metabolism in the newborn rat.- Carbohydrate metabolism in intrauterine growth retardation.- Discussion: Britton, Jones, Minkowski, Hull, Milner.- Session II : Energy Expenditure.- Caloric needs of the newborn..- Variations in the rate of oxygen consumption of newborn human infants.- Energy requirements for growth in the neonate.- The role of oleic acid as a substitute for glucose in brain cell cultures of neonatal mice.- Discussion: Britton, Hull, Girard, Bossi, Helge, Verellen, Minkowski.- Session III: Regulation of Insulin and Glucagon Secretion.- Insulin secretion and metabolism in the rat fetus during late gestation.- Glucagon secretion during the perinatal period.- Plasma insulin and glucagon in well-oxygenated and hypoxic fetal lambs.- Effects of insulin and glucagon on the mother and in the fetus.- Plasma corticosteroids in normal, premature and “small-for-dates” newborn infants throughout the neonatal period.- Somatomedin A activity in newborns.- Session IV: Practical Implications and General Discussion.- Effect of maternal diabetes on glucose regulation in the newborn.- Oral feeding recommendations in full-term and premature newborns.- Discussion: Eggermont, Salle, Teller, Shelley, De Meyer, Van Assche, Senterre, Verellen.- Summary, general discussion and some matters of thinking.

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Book SynopsisFormerly the policy of masterly inactivity was generally accepted in obstetrical practice. However, this is no longer true at the beginning of the present decade, and the authors are to be congratulated in trying to stimulate their juniors to approach the problems of Pre-natal Paediatrics in a well informed manner. Whilst inactivity may still be the treatment of choice in certain cases, it should only be carried out with the full knowledge that all is well, and this obviously will involve the use and understanding of new investigations and techniques. In my opinion the authors have achieved their aims and though there are those who may always have reservations, they must surely accept the authors' appraisal of the modern approach to this science. VICTOR R. TINDALL Cardiff, I97 I PREFACE This book confines itself to those aspects of pre-natal develop­ ment which are of importance to the clinician. We hope to present a reasonably concise account of this relatively new and rapidly expanding field of medical science. Stress is given to concepts which may not yet be in many standard obstetric and paediatric texts. Also, we wish to provide an easily accessible collection of reference data for the busy member of junior staff to refer to during the course of his routine work. We therefore make no apology for any repetition needed to make each section readable without many cross references.Table of Contents1 A ‘sketch map’ of fetal morphology and function.- 2 Adaptation to the newborn state: fetal monitoring.- 3 Assessment of placental function.- 4 Estimation of length of gestation.- 5 Disorders of fetal growth.- 6 Blood group iso-immunization.- 7 Drugs and the fetus.- 8 Fetal infection and the effects of maternal disease.- 9 Genetics and genetic counselling.- 10 Management of fetal abnormalities.- 11 Pre-natal environmental influences on behaviour.- Appendices.- 1 Fetal growth charts.- 2 Technique of amniocentesis.

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Book SynopsisThis book covers all key aspects of critical care in pediatric nephrology, including acute dialysis in sick children. It also provides detailed protocols for managing fluid and electrolyte balance and dialysis in children in intensive care. In addition, this quick guide discusses innovations in pediatric renal replacement therapy technologies, such as plasma exchange, CARPEDIEM, NIDUS and aquadex. This is a go-to book for intensivists, physicians and trainees working in pediatric intensive care units. Trade Review“This handbook provides basic information about pediatric kidney diseases, renal replacement therapy, and special procedures. … This book is certainly a quick guide for pediatric nephrology and pediatric critical care postgraduate trainees as well as for pediatricians with an interest in expanding their knowledge of renal disease. The authors are true visionaries in the field.” (Aftab S. Chishti, Doody's Book Reviews, July 12, 2019)Table of ContentsCritically ill child with acute kidney injury.- Kidney function monitoring in a sick child.- Acute kidney injury- definitions & epidemiology.- Acute kidney injury- diagnosis; biomarkers.- Neonatal AKI.- Hemolytic uremic syndrome.- Acute kidney injury- principles of management.- Fluid overload in pediatric AKI, and it’s assessment.- Nutrition in acute kidney injury.- Pharmacology of a critically ill child and drug dosing.- Peritoneal dialysis.- Vascular access.- Anticoagulation.- Hemodialysis.- SLED and hybrid therapies.- CRRT.- Plasmapheresis in the PICU.- Special situations.- Advances in pediatric RRT- NIDUS, CARPEDIEM, aquadex.- Acute kidney injury- outcomes.

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Book SynopsisThe new, fully updated edition of this successful book, brings together the combined experience of a leading dedicated unit over 25 years in delivering expert medical and surgical care to children with DSD (Disorders Differences of Sex Development) in a holistic environment. It documents the most recent advances in the molecular biology and embryology of sex development, and describes each variation in detail. The main focus of the book is on patients with variations with their anatomy and hormone function. New chapters describe the developments in the field in terms of definitions and incidence, the mental health of DSD patients and discuss the perspectives of patients families and support groups. The clinical presentation and approach to diagnosis are described both for babies and for children presenting later in childhood or at adolescence. The chapters on management highlight all the latest knowledge and include the shared wisdom of the authors on current controversies, such as the timing of surgical treatment. Finally, the authors describe their short-, medium-, and long-term outcomes, which demonstrate the strengths of holistic team management.Table of ContentsCurrent debate about definitions and the incidence of DSD.- The Molecular Basis of Gonadal Development and DSD .-Embryology of the Human Genital Tract.- Hormones Regulating Sex Development.- Questions About Gender: Children with Atypical.-Abnormal Embryology in DSD.- 46,XX DSD.- 46,XY DSD.- Mixed Sex Chromosome and Ovo-Testicular DSD.- Non-hormonal DSD.- Multiple Malformation Syndromes in DSD .- The Neonate with Ambiguous Genitalia.- DSD Later in Childhood .- The Adolescent or Young Adult with DSD .- Imaging in DSD.- Ethical Principles for the Management of Children with Disorders of Sex Development: A Systematic Approach for Individual Cases.- The Medical Management of Disorders of Sex Development.- Surgical Treatment in Infancy.- Laparoscopy for DSD.- The Family.- Genetic Counselling.- Cultural Differences and Controversies about Timing of Management.- A Long-Term Outcome Study of DSD in Melbourne.- Medical Management of Adolescents and Young Adults.- Gynaecological Management.- Psychological Management in Adolescence and Beyond.- Short-, Medium- and Long-Term Outcomes Following Surgery for Disorders of Sex Development at Royal Children’s Hospital.- Long-Term Outcome of Disorders of Sex Development: A World View.- Psychosocial issues and mental health in DSD patients.- Complete Androgen Insensitivity Syndrome: A Guide for Parents and Patients.- Perspectives of patients, families and support groups.- Additional Material .-Video .-Index.

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Book SynopsisThis book is written to simplify complex topics of neonatal and pediatric liver and metabolic diseases which are encountered by clinicians on a day to day basis. Neonatal and early pediatric liver diseases are very much different from adult liver diseases. Most of them are either structural diseases or genetically modulated metabolic disorders affecting liver. They all look same; however the underlying etiology could be quite different. This book thoroughly covers various neonatal and pediatric liver and metabolic diseases through a unique clinical case based approach via a vast clinical experience of the author. The book presents more than 50 unique cases and presents real life learning scenario with various examples facilitating better understanding of the disease and the ways to analyze it. The book uses a simple language and presents line diagrams and algorithms facilitating learning. This book shall be a valuable resource for practicing general pediatricians, pediatric residents and gastroenterologists with involvement in pediatric liver and liver related metabolic diseases. Table of ContentsNeonatal and Pediatric liver Diseases1.1 Neonatal and pediatric liver diseases1.2 Neonatal jaundice:1.3 1.3 Liver Function Tests:1.4 Investigating a case of neonatal jaundice:1.5 Treatment in a case of Conjugated hyperbilirubinemia till a definitive diagnosis is made:Basic understanding of Inborn Error of Metabolism and Metabolic disorders:• Clinical presentation of Inborn Errors of Metabolism (IEM):• Investigations of Inborn Errors of Metabolism (IEM):******************Cases:Case 1: 20 month old child with recurrent convulsions.Case 2: A 9 year old boy presenting with hepatitis, epistaxis and bleeding from gums.Case 3: Lightening strikes at one place thrice!! Case 4: A worried couple with a child having jaundice.Case 5: A 2 year old child who had recurrent hematemesis and bleeding per rectum.Case 5: A 2 year old child who had recurrent hematemesis and bleeding per rectum. Case 6: A child who had lost appetite and interest. Case 7: A year old child with chronic diarrhea and failure to thrive.Case 8: A 3 year old male with recurrent diarrhea and chest infection Case 9: 11 months old twins with Inborn errors of metabolism. Case 10: A child with recurrent diarrhea Case 11: A 3 month old child with recurrent fever, diarrhea, failure to thrive and electrolyte disturbances. Case 12: A 13-Year-Old girl with chronic abdominal Pain and Vomiting. Case 13: A 6 month old child with neonatal cholestasis and generalized edema. Case: 14. A 6 weeks old child who had progressive jaundice and creamy white stools.Case: 15. Milk brandingCase 16: An 8 year old son of a lady executive who was a keen “net” searcher.Case 17: Neo rich parents who wanted best for their child!Case 18: A case of “Criggler-Najjar syndrome”.Case: 19. A pleasant child who developed prolonged jaundice Case 20: Prolonged neonatal jaundice and cardiac defects:Case 21: Neonatal jaundice in a child with ocular problem:Case 22: A 3 year old girl with unexplained vomiting and failure to thrive.Case 23: A 3 year old boy with failure to thrive and progressively stiffening muscles.Case 24: A 2 month old child with neonatal ascites.Case 25: A patient with sickle cell anemia with sudden onset of jaundice.Case 26: A 7 year old boy with recurrence of jaundice.Case 28: An eight year old boy with recurrent jaundice. Case 29: A 3 yr. old with huge liver and abnormal liver functions. Case-30: A fifteen year old boy with prolonged jaundiceCase-31: A young girl with recurrent jaundice and vague RUQ mass.Case-32: A young boy with ascites.Case 33: Two cases of recurrence of jaundice.Case 34: A 12 years old boy with “obstructive jaundice”.Case 35: 11 years old boy with jaundice and bleeding PR.Case 36: A young boy with failed renal transplant and sudden onset of ascites.Case 37: A 2-Year-Old Boy with Diarrhea, Failure to thrive, and HepatomegalyCase 38: A child with “recurrent attacks of asthma”Case 39: A 3 years old boy with recurrent jaundice and severe iron deficiency anemia.Case 40: 3 years old boy with huge liver.Case 41: A case of neonatal liver failureCase 42: A case of acute hepatitis and ……something more.Case 43: A case of neonatal hepatitis and failure to thrive.Case 44: An infant with sudden onset of unilateral ptosis and jaundice.Case 45: A neonate with rapidly deteriorating liver functions. Case 46: A 6 month old child with hematemesis:Case 47: A young child with persistent elevation of SGOT/ SGPT.Case 48: An infant with persistent vomiting.Case 49: A case of Fever and jaundice.Case 50: A neonate with jaundice and enlarged liver.Case 51: A case of huge hepatomegaly but no hypoglycemia.Case 52: Pregnant lady with HBsAg positivity: A paediatrician’s perspective.

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Book SynopsisThis book provides rare insight into how real children/adolescents’ lives unfold as a result of health inequity. The authors present the findings of empirical research into the health and social circumstances of 61 Australian children/adolescents, as reported by healthcare professionals who attended to their medical needs, revealing how healthcare professionals deal with health inequity on the ground. Profound inequities in the health and wellbeing of children/adolescents worldwide have been the focus of intense research for decades. The extent to which children/adolescents’ health and wellbeing is impacted by violence, poverty, their inability to access integrated healthcare services, parental and adolescent substance abuse, unemployment, poor living conditions, poor nutrition, a fractured social support network, disrupted education, and lack of transportation, is widely recognized. While essential, statistical analyses alone cannot reveal the faces of those experiencing health inequity. This work highlights the need for urgent coordinated action to address health inequity so that children and young people have a chance to lead a full life in good health. It is relevant to researchers and practitioners whose work relates to improving children and young people’s lives.“This book should be required reading for those who influence policies developed by all the sectors mentioned above and their funding and administrative bodies – and politicians in particular” (Anonymous Reviewer).Table of ContentsChapter 1- Introduction.- Chapter 2 – Methods and methodology.- Chapter 3 – Overview of Social Determinants of Health Findings and Vignettes.- Chapter 4 – Results of health inequity analyses.- Chapter 5 – Discussion of findings on social determinants of health.- Chapter 6 – Challenges faced in addressing the needs of these children/young people.- Chapter 7 – Solutions adopted for these children/young people and their families.- Chapter 8 – Outcomes: How these children/young people and their families fared.- Chapter 9 - Discussion of challenges, solutions, and outcomes.- Chapter 10. Conclusions.

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