Clinical and internal medicine Books

Book SynopsisLo scopo generale di questo testo è quello di offrire una presentazione integrata dei vari aspetti della fisiologia cardiovascolare. L’integrazione riguarda anche le parti di ogni singolo capitolo in modo che il lettore sia utilmente seguito nell’ apprendimento. Accanto a questa impostazione, gli autori hanno anche cercato di fornire alcuni aggiornamenti collegandoli con le nozioni ormai consolidate. Per adeguarsi al piano prefissato, il libro descrive la fisiologia del cuore dalla struttura alla funzione. Di conseguenza l’elettrofisiologia è illustrata con lo scopo di chiarire le proprietà dei tessuti funzionale del cuore, vale a dire l’automatismo, la conduttività, l’eccitabilità e la contrattilità, quest’ultima vista come base dell’emodinamica. Inoltre la fisiologia del cuore è trattata negli aspetti che la collegano al postcarico arterioso, alla gettata e al ritorno venoso in condizioni normali e patologiche. Un’efficace integrazione delle varie parti richiede ovviamente una scrittura semplice, che tuttavia non comprometta il rigore del discorso scientifico.A differenza di altri pur prestigiosi testi che spesso limitano assai la descrizione della circolazione coronarica, questo libro cerca di trattare in modo adeguato un argomento estremamente importante nella patologia cardiaca. Spazio infine è stato dato a temi emergenti quali i fattori endoteliali e le procedure di protezione miocardica.Table of ContentsPrefazione; Il cuore e il circolo; Struttura della fibra miocardica; Elettrofisiologia cardiaca; I tessuti funzionali del cuore; Il ciclo cardiaco; La gettata cardiaca e il ritorno venoso al cuore; I fattori che controllano la forza di contrazione nel cuore; La pressione arteriosa; Il lavoro e il metabolismo cardiaco; L'elettrocardiogramma; L'emodinamica vascolare; Il controllo nervoso dell'apparato cardiovascolare; Il controllo umorale dell'apparato cardiovascolare; Le circolazioni distrettuali; La circolazione polmonare; Adattamenti dell'apparato cardiovascolare a situazioni di emergenza; La protezione del miocardio contro danni da ischemia-riperfusione; La circolazione della linfa; Imaging funzionale dell'apparato cardiovascolare: come studiare la fisiologia umana in vivo

Read more less

Book Synopsis1.- 2.- 3.- 4.- 5.- 6.- 7.- 8.- 9.- 10.- 11.- 12.- 13.- 14.- 15.- 16.- 17.- 18.- 19.- 20.- 21.- 22.- 23.- 24.- 25.- 26.- 27.- 28.- 29.- 30.- 31.- 32.- 33.- 34.- 35.- 36.- 37.- 38.- 39.- 40.- 41.- 42.- 43.- 44.- 45.- 46.- 47.- 48.- 49.- 50.- 51.- 52.- 53.- 54.- 55.- 56.- 57.- 58.- 59.- 60.- 61.- 62.- 63.- 64.- 65.- 66.- 67.- 68.- 69.- 70.- 71.- 72.- 73.- 74.- 75.- 76.- 77.- 78.- 79.- 80.- 81.- 82.- 83.- 84.- 85.- 86.- 87.- 88.- 89.- 90.- 91.- 92.- 93.- 94.- 95.- 96.- 97.- 98.- 99.- 100.

Read more less

Book SynopsisThis 2-volume classification is intended to present in a systematic fashion the many procedures used in different branches of medicine, a task which the World Health Organization is undertaking for the first time.

Read more less

Book Synopsis

Read more less

Book Synopsis

Read more less

Book Synopsis

Read more less

Book Synopsis

Read more less

Book Synopsis

Read more less

Book Synopsis

Read more less

Book SynopsisTable of Contents1. Understanding Fibroids 2. Diagnosis of Fibroids 3. Clinical Rainbow of Fibroids 4. Management of Fibroids in Adolescent Girl 5. Fibroids and Infertility 6. Fibroids in Pregnancy 7. Management of AUB with Fibroid 8. Management of Fibroids in Perimenopausal Women 9. Management of Fibroids in a Menopausal Woman 10. Can We Leave Fibroids Alone? 11. Surgical Management of Fibroids 12. Controversies Regarding Fibroid Morcellation 13. Medical Management of Fibroids 14. Newer Nonsurgical Treatment Options for Fibroids 15. Fibroids and Malignancy 16. Recurrence and Treatment Outcomes in Fibroids 17. Fibroids and Sexual Dysfunction 18. Fibroids and Gastrointestinal Symptoms 19. Genitourinary Dysfunction in Uterine Fibroids 20. Infrequent or Atypical Fibroid Syndrome 21. What ’s New in the World of Fibroids? 22. How Much Should She Worry? Reassuring Patients with Fibroids 23. Holistic Approach to Fibroids 24. Uterine Fibroid in a Nutshell 25. Case Scenarios 26. Perplexing Situations with Fibroids 27. Counseling in a Patient of Fibroid 28. Emerging and Hopeful Strategies toward Nonsurgical Management of Fibroids 29. Ulipristal: Experience in Few Cases 30. Fibroid Management Guidelines Index

Read more less

Book SynopsisThis book is the latest volume in the series presenting clinicians and medical students with the latest advances in medicine, with emphasis on endocrine and cardiovascular disorders. Presented as a collection of articles, the first chapters provide an overview of the field and discussion on medical teaching. The following sections cover the diagnosis and management of numerous conditions in everyday clinical practice. Separate chapters explore advances in other sub-specialties such as kidney disease, sepsis and asthma, and several complete sections are dedicated to Covid and associated disorders. Enhanced by clinical photographs and figures, this valuable text serves as a ready reckoner for different approaches to clinical case management. The previous volume (9789389587111) published in 2020.Table of Contents Combating Physician Burnout Is Clinical Medicine a Forgotten Art? Pedagogy in Medicine – How to be an Expert Medical Educator – Evidence-based Review Acute Rheumatic Fever Angiotensin Receptor Blocker & Angiotensin Converting Enzyme Inhibitors – Newer Insights Subclinical Hyperthyroidism Approach to Sleep Apnoea Jaundice in Pregnancy CMBCD (Cardio Metabolic Based Chronic Disease) Endocrine Hypertension GINA - Global Initiative for Asthma Heart Rate - An Independent Risk Factor & the PROFICIENT Study Hypertensive Emergencies Hyponatremia in the Intensive Care Unit Importance of Influenza Vaccination in Adult Population Interpreting the Link between Hyperuricemia and Cardiometabolic Disorders and Management Masked Hypertension: How Worrisome? Myelodysplastic Syndrome (MDS): What a Physician Should Know? Approach to Metabolic Syndrome Non Alcoholic Fatty Liver Disease (NAFLD) – What’s in the Name? Vagal Nerve Stimulation (VNS) and Baroreceptor Activation Therapy (BAT) - An Emerging Modality for Refractory Heart Failure A Century of Basal Glucose Regulation Pyrexia of Unknown Origin Evolving Epidemiology of Covid, Clinical Presentation & Triage Covid-19 and Diabetes Mellitus Digital Outreach: Reaching the Unreached Asthma, Biologics & Clinical Pharmacology An Approach to Diabetic Autonomic Neuropathy Pharmacokinetic Considerations in Prescribing Chronic Kidney Disease Patients Protection of the Healthcare Workers (HCWs) in the Covid Pandemic The Immunology of Sepsis Covid & Cardiovascular System Nutrition in Diabetes: Relevance and Current Evidence

Read more less

Book SynopsisThis atlas is a practical guide to the diagnosis of common retina and optic nerve disorders. Comprising more than 500 archetypal images, each disease is clearly illustrated showing clinical features and signs, from its early to later stages. The images are followed by a brief description highlighting key characteristics of the disease, providing clinicians with a comprehensive overview and enabling them to diagnose ocular conditions with ease. Divided into 15 sections, the book begins with an introduction to the ‘normal’ fundus. The following sections examine different retinal disorders, from retinal degeneration, uveitis, and infections, to traumatic chorioretinopathy and optic disc anomalies. The atlas concludes with chapters on ocular oncology and complications of surgery. A complete section is dedicated to paediatric retinal diseases. Table of Contents NORMAL FUNDUS RETINAL DEGENERATIONS AND DYSTROPHIES PAEDIATRIC RETINAL DISEASES RETINAL VASCULAR DISEASE CHOROIDAL VASCULAR/BRUCH'S MEMBRANE DISEASE CENTRAL SEROUS CHORIORETINOPATHY INFLAMMATORY DISEASE/UVEITIS INFECTIONS EPIRETINAL MEMBRANE, VITREOMACULAR TRACTION, MACULAR HOLE VITREOUS DEGENERATION TRAUMATIC CHORIORETINOPATHY PERIPHERAL RETINAL DEGENERATIONS AND RHEGMATOGENEOUS RETINAL DETACHMENT OPTIC DISC ANOMALIES AND DISEASES ONCOLOGY COMPLICATIONS OF OCULAR SURGERY

Read more less

Book SynopsisTable of ContentsChapter 1: Cardiovascular Emergencies Chapter 2: Respiratory Emergencies Chapter 3: Gastrointestinal Emergencies Chapter 4: Neurological Emergencies Chapter 5: Renal Emergencies Chapter 6: Hematological Emergencies Chapter 7: Endocrinal and Metabolic Emergencies Chapter 8: Emergencies in Infectious and Tropical Diseases Chapter 9: Acute Poisoning Chapter 10: Iatrogenic Emergencies Chapter 11: Shock Syndrome and Critical Allergic Reactions Chapter 12: Environmental Emergencies Chapter 13: Miscellaneous Emergencies

Read more less

Book SynopsisThe new edition of this book is a comprehensive guide to the diagnosis and management of neurological diseases and disorders. Beginning with an overview of neurological examination, each of the following chapters covers a different condition including peripheral nerve disease, bladder, bowel and sexual dysfunction, various pareses (muscular weakness caused by nerve damage), Parkinsonism, dementia, dysphagia, and many more. Each disorder is presented in a step by step format, describing neuroanatomy and neurophysiology, history taking, symptoms and signs, examination, interpretation and diagnosis, and management strategies. The book concludes with a chapter on neurological examination of a child. The text is further enhanced by clinical photographs and diagrams, as well as a selection of case studies to assist learning. The second edition has been fully revised and updated to provide clinicians and trainees with the latest advances in the field. The content has been reorganised and new topics added to help trainees prepare for examinations. The previous edition (9789389587913) published in 2020.Table of Contents1. Overview of Neurological Examination 2. Approach to Motor System Disorders 3. Approach to Peripheral Nerve Disease 4. Approach to Bladder, Bowel, and Sexual Dysfunction 5. Approach to Paraparesis 6. Approach to Quadriparesis 7. Approach to Hemiparesis 8. Approach to Monoparesis 9. Approach to Cranial Neuropathies 10. Approach to Ataxia 11. Approach to Parkinsonism 12. Approach to Hyperkinetic Movement Disorders 13. Approach to Gait Disorders 14. Approach to Dysphagia 15. Approach to Common Neurological Disorders (Headache, Low Back Pain, Seizure, and Unconsciousness) 16. Approach to Speech and Language Dysfunction 17. Approach to Dementia 18. Approach to Neurological Evaluation of a Child

Read more less

Book SynopsisTable of Contents1. What is an Echo? 2. Conventional Echo 3. Color Doppler Echo 4. Echo Windows 5. Normal Views and Values 6. Newer Modalities in Echo 7. Ventricular Dysfunction 8. Cardiomyopathies 9. Coronary Artery Disease 10. Systemic Hypertension 11. Pulmonary Hypertension 12. Diseases of Aorta 13. Congenital Diseases 14. Valvular Diseases 15. Pericardial Diseases 16. Endocardial Diseases 17. Intracardiac Masses 18. Thromboembolic Diseases 19. Systemic Diseases

Read more less

Book Synopsis

Read more less

Book Synopsis

Read more less

Book SynopsisIn vitro fertilisation (IVF) is one of several techniques available to help people with fertility problems have a baby. During IVF, an egg is removed from the woman''s ovaries and fertilised with sperm in a laboratory. The fertilised egg, called an embryo, is then returned to the woman''s womb to grow and develop.This book is a complete guide to IVF for specialists and trainees in reproductive medicine.Divided into two parts, the first sections discuss clinical aspects of IVF, including laboratory set-up, patient selection and preparation, drugs and stimulation protocols, male infertility, the operating theatre and assisted reproductive technology (ART) techniques, special situations such as endometriosis and recurrent implantation failure; and recent advances in ART.The second part of the book covers laboratory aspects, explaining the physical and practical processes of IVF including management of culture conditions, quality control, male and female gametes, embryo gradation and implantation, cryopreservation and sperm freezing, and advanced embryology.With a recognised, international team of authors, this comprehensive text is further enhanced by diagrams and figures to assist learning. Table of ContentsPART A: IVF CLINICAL ASPECTS SECTION 1: STEPPING UP IN IN VITRO FERTILIZATION SECTION 2: DRUGS AND STIMULATION PROTOCOLS IN IN VITRO FERTILIZATION SECTION 3: MALE INFERTILITY SECTION 4: IN VITRO FERTILIZATION OPERATION THEATER AND TECHNIQUES IN ASSISTED REPRODUCTIVE TECHNOLOGY SECTION 5: SPECIAL SITUATIONS IN IN VITRO FERTILIZATION SECTION 6: LET'S LEARN SOMETHING DIFFERENT PART B: IVF LABORATORY ASPECTS (HANDS ON EMBRYOLOGY) SECTION 7 BUILDING UP THE CULTURE AMBIENCE SECTION 8 KNOW YOUR CULTURE CONDITIONS SECTION 9 HANDLING THE MALE GAMETE SECTION 10 THE BOSS: FEMALE GAMETE SECTION 11 OOCYTE/EMBRYO GRADATION SYSTEMS SECTION 12 OOCYTE, EMBRYO, AND IMPLANTATION SECTION 13 FROZEN LIFE SECTION 14 ADVANCED TECHNIQUES: EMBRYOLOGY ADD-ONS SECTION 15 THE EMBRYOLOGIST

Read more less

Book Synopsis

Read more less

Book SynopsisThis manual is a practical guide to operative obstetrics and gynaecology for candidates preparing for MRCOG (Membership of the Royal College of Obstetricians and Gynaecologists) examinations.Divided into three sections, the text begins with an overview explaining anatomy, ethics in surgery, anaesthesia, and pre- and post-operative care. Sections two and three cover numerous surgical procedures for obstetric and gynaecologic disorders.Each chapter is presented as a template comprising different operative stages including an introduction, indications, pre-operative preparation, surgical steps, post-operative care, and complications.The third edition has been fully revised and updated with a number of new topics added. The comprehensive text is further enhanced by illustrative diagrams and images.A QR code provides access to supplementary online content and videos, MRCOG questions and answers, case studies, and the latest Green-top Guidelines (guidelines set

Read more less

Book SynopsisThe femur, or thigh bone, is the only bone in the thigh and is the longest bone in the body. It acts as the site of origin and attachment for many muscles and ligaments, and the head forms a ball and socket joint with the hip.The femoral neck connects the femoral shaft with the femoral head. Femoral neck fractures are a type of intracapsular hip fracture the junctional location makes the neck prone to fracture.TheFemoral Neck System(FNS) addresses clinical challenges associated with thefixationoffemoral neckfractures.Authored by a team of highly experienced trauma surgeons and orthopaedic specialists, this book provides a comprehensive overview of the FNS, detailing its design, biomechanical principles, clinical applications, and rehabilitation protocols.The book begins with a detailed examination of femoral neck fractures, including definitions, classifications, epidemiology, and incidence rates, as well as comparative analysis of various fixation methods.The next chapter covers design and components of implants, including screws, plates, and locking mechanisms.The following sections provide step-by-step surgical procedures for femoral neck fracture fixation, explaining positioning, intraoperative considerations, tips for optimal implant placement, and postoperative care and rehabilitation.The book concludes with discussion on common complications and their management, clinical outcomes and studies, and future perspectives and innovations.Compiling the latest data, research and expert opinions, chapters feature anecdotal notes for the fixation system, pearls, charts, figures, and diagrams, to provide an invaluable resource for specialists involved in the management of femoral neck fractures.

Read more less

Book SynopsisThis new edition has been fully revised to provide clinicians with the latest advances in interventional cardiology, focusing on key procedures used in practice. Beginning with an overview of percutaneous coronary intervention (PCI), the following sections discuss imaging techniques (IVUS and OCT), instruments such as stents, and techniques for different cardiovascular disorders. A complete chapter is dedicated to drugs used in the catheterisation lab and mechanical circulatory support. The book concludes with discussion on structural and congenital heart disease, and complications of PCI. The third edition has been expanded and includes new topics and features numerous clinical photographs, diagrams and tables. The previous edition (9789352700875) published in 2017.

Read more less

Book SynopsisHypertensionis another name for high blood pressure. It can lead to severe complications and increases the risk of heart disease, stroke, and death. Blood pressure is the force exerted by the blood against the walls of the blood vessels. This book is a comprehensive guide to the diagnosis and management of high blood pressure. Divided into three sections, the text begins with an overview of the condition, current guidelines on its management, potential organ damage, and nonpharmacological treatments. The next section covers the management of hypertension with associated disorders such as diabetes, cardiovascular disease, stroke, kidney disease, and more. A complete chapter is dedicated to white coat' hypertension. The final section discusses management approaches when initial treatment fails, and hypertensive emergencies. Each chapter is presented as a case scenario, describing prevention, diagnosis, previous control attempts, challenges, and treatments, both pharmalogical and nonpharmalogical. This second edition has been fully revised and updated to provide clinicians and trainees with the latest advances and knowledge in the field. A number of new topics have also been included. Authored by experts from the University of South Carolina, the text is further enhanced by clinical images, figures and tables. The previous edition (9789386261489) published in 2019.

Read more less

Book Synopsis

Read more less

Book SynopsisTable of Contents Surgical Anatomy of Esophagus, Gastroesophageal Junction, and Lower Esophageal Sphincter Physiology of Esophagus, Gastroesophageal Junction, and Lower Esophageal Sphincter Histology of Esophagus Epidemiology of Gastroesophageal Reflux Disease Etiology of Gastroesophageal Reflux Disease Pathophysiology of Gastroesophageal Reflux Disease Clinical Features of Gastroesophageal Reflux Disease Diagnosis of Gastroesophageal Reflux Disease Differential Diagnosis of Gastroesophageal Reflux Disease Complications of Gastroesophageal Reflux Disease Prognosis Management of Gastroesophageal Reflux Disease Barrett's Esophagus Hiatus Hernia Helicobacter Pylori Infection Recent Advancements and Modern Trends in Gastroesophageal Reflux Disease Pharmacology of Drugs Used in Gastroesophageal Reflux Disease What Questions Patient may Ask about Gastroesophageal Reflux Disease Abbreviations Multiple Choice Questions and True/False

Read more less

Book SynopsisThe practical substance of this text is aimed at all doctors who assess, and prescribe for patients with cardiovascular problems. It is for clinicians and residents who wish to interpret ECGs accurately. The arrhythmia chapter is packed with clues for diagnosis and therapy, and practical steps. Presents a unique 11-step method for accurate and rapid ECG interpretations in a user-friendly synopsis format. It is thoroughly revised and updated. Includes the latest updates of ECG interpretation along with its importance in assessments of various abnormalities such as ST-segment elevation and also an addition of chapter on enhancing ECG quality. Provides different diagnostic ECG criteria with relevant and instructive ECGs that act as ready-reckoner for proficiency tests and also helpful for physicians who are preparing for the Cardiovascular Diseases Board Examination. The significant information are presented through a succinct writing style and highlighted with bullets. The practical aspects of the book help the clinicians and senior residents for accurate interpretations of the ECG associated with cardiovascular diseases. Table of Contents1Electrocardiogram Basic Concepts must be Mastered 2New Method for ECG Interpretation 3P Wave Abnormalities 4Bundle Branch Block 5ST Segment Abnormalities, ST segment elevation MI, non ST segment elevation MI 6Q Wave Abnormalities 7Atrial and Ventricular Hypertrophy 8T Wave Abnormalities 9Electrical Axis and Fascicular Blocks 10Miscellaneous Conditions 11Arrhythmias 12ECG Board Self-Assessment Quiz 13New placements of limb lead provide superior quality ECG s.

Read more less

Book SynopsisThe third edition has been fully revised to provide the most recent advances in chemical peeling. Topics new to this edition include lip peels, periocular peels, nail peels, hand peels, and body peels. There is also discussion on combining peels with other procedures such as lasers and microneedling, to optimise results.

Read more less

Book SynopsisThe OSCEs have become a part of most examinations in Critical Care Medicine. This book will be of great help to the examinees. The contents have been divided into two sections one is Questions and the second is Answers. It contains chapters on Respiratory Medicine, Neurology, Nephrology, Microbiology and Infection Control, Hemodynamics, Drugs, Biochemistry, Miscellaneous, and Case Scenarios. Contains nearly 330 questions with model answers. Questions range from the old tests, new techniques and devices, and results of laboratory and other investigations. Also covers questions on all organ systems and different ways these systems may be affected by the disease. The answers are structured from examination point-of-view. These will help the examinees in developing the skills to face the objective structured clinical examinations (OSCEs) in their examination. Table of ContentsQUESTIONS 1. Respiratory Medicine 2. Neurology 3. Nephrology 4. Microbiology and Infection Control 5. Hemodynamics 6. Drugs 7. Biochemistry 8. Miscellaneous 9. Case Scenarios ANSWERS 1. Respiratory Medicine 2. Neurology 3. Nephrology 4. Microbiology and Infection Control 5. Hemodynamics 6. Drugs 7. Biochemistry 8. Miscellaneous 9. Case Scenarios

Read more less

Book Synopsis

Read more less

Book Synopsis

Read more less

Book Synopsis

Read more less

Book Synopsis2. Stone extraction via the T-tube 89 3. Endoscopic method 89 4. Preparation for stone extraction 90 5. Technique 90 6. Results 91 7. Complications 91 8. Discussion 91 Index of Subjects 99 CHAPTER 1 INTRODUCTION This book was conceived as a descriptive atlas of most reliable indication for common bile duct ex­ routine biliary surgery i. e. , cholecystectomy and ploration. The cholangioscope allows a visual ex­ exploration of the common bile duct. For the pro­ ploration of the biliary tree and permits the re­ ject the two authors worked together for one week moval of common bile duct calculi and other as biopsy under direct visual con­ at Ninewells Hospital and Medical School, Dundee procedures such on a series of patients with biliary tract disease trol. Both procedures have been described in detail especially selected for the exercise. With the con­ with emphasis on the practical aspects of their use. sent of the Tayside Health Board and the patients The era of blind bilary surgery is over and the concerned, all the operations and peri-operative sooner this message is received by all concerned, procedures were filmed by the photographic mem­ the better the outcome of biliary surgical practice bers of the team, Mr. and Mrs. Paz-Partlow. Ad­ overall. ditional case material has been obtained from It has not been our intention to produce a com­ Cedars Sinai Medical Center, Los Angeles.Trade Review`...excellently illustrated... ...of value to all surgeons performing biliary tract surgery.' Gastrointestinal Endoscopy, 31:5 (1985) `...an easy to read and excellent cooperative project from Scotland and the USA between a surgeon, endoscopist and radiologist. It can be commended to abdominal surgeons and will make a useful contribution to safer cholecystectomy.' Journal of the Royal Society of Medicine, 78 (1985) `...should be of help to all surgeons in training.' British Medical Journal, 219 (1985) Table of Contents1. Introduction.- 2. Review of existing problems in biliary tract surgery.- 3. Surgical approach and principles.- 1. Introduction.- 2. Prophylactic measures.- 2.1. Infectious complications.- 2.2. Haemorrhagic complications.- 2.3. Renal failure.- 3. Pre-operative biliary decompression in the jaundiced patient.- 4. Operative principles.- 4.1. Surgical access.- 4.2. Patient positioning.- 4.3. Appropriate incision.- 4.4. Illumination of the operating field.- 4.5. Packing.- 4.6. Exposure of relevant anatomy.- 5. Drainage of the supracolic compartment after biliary operations.- 4. Operative cholangiography (in cooperation with J.A. Hamlin and M. Paz-Partlow).- 1. Introduction.- 2. Common bile duct explorations.- 3. Unsuspected stones.- 4. Cannulation techniques.- 5. Initial and/or completion cholangiograms.- 6. Standard technique.- 6.1. Technique and equipment.- 6.2. Patient’s positioning.- 6.3. Scout film.- 6.4. Injected volume.- 6.5. Contrast material.- 6.6. Coordination of exposure.- 6.7. Mobile C-arm fluoroscope.- 7. Fluoro-cholangiography.- 7.1. Easy positioning of the patient.- 7.2. Optimal beam collimation.- 7.3. Shorter exposure time.- 7.4. Automatic exposure control.- 7.5. Minimal technician activity.- 7.6. Control of the exposure sequence.- 7.7. Serial films.- 7.8. Decreased examination time.- 7.9. Indirect radiography.- 8. Anomalies of surgical importance.- 8.1. Short cystic duct.- 8.2. Drainage of cystic duct in the right hepatic duct.- 8.3. Aberrant ducts.- 8.4. Ductal diverticula and choledochocele.- 8.5. The acute or emergency case.- 9. General aspects.- 10. Radiation protection.- 11. The cystic duct.- 12. Cholecysto-cholangiogram.- 13. The choledocho-cholangiogram.- 13.1. Direct needle puncture.- 13.2. Butterfly needle puncture.- 13.3. Special needle clamp.- 13.4. T-tube insertion.- 14. Contact selective cholangiography.- 15. Reason for failure for operative cholangiography.- 15.1. Overfilled ducts.- 15.2. Underfilled ducts.- 15.3. Poor quality films.- 15.4. Improper positioning.- 15.5. Obscured field.- 16. Artifacts.- 17. Complications of operative cholangiography.- 18. Reformed calculi.- 19. Complications of T-tube removal in the post-operative period.- 20. Results of operative cholangiography.- 20.1. Advantages.- 20.2. Disadvantages.- 5. Operative biliary endoscopy (cholangioscopy) (in cooperation with M. Paz-Partlow).- 1. Introduction.- 2. Instrumentation.- 2.1. Accessories.- 3. Technique.- 3.1. Mobilization of the duodenum.- 3.2. Endoscopic appearance.- 3.3. The cystic stump remnant.- 4. Endoscopic anatomy and pathology.- 4.1. Normal findings.- 4.2. Cholangitis.- 4.3. Calculi.- 4.4. Ampullary stenosis.- 4.5. Neoplasms.- 4.6. Miscellaneous.- 5. Repeated cholangioscopy.- 6. Complications.- 7. General aspects.- 7.1. Sterilization.- 7.2. Maintenance.- 8. Evaluation of results.- 9. Conclusions.- 6. Biliary manometry and debimetry.- 1. Introduction.- 2. Usage.- 3. Pharmacolgy of the sphincter of Oddi (SO).- 3.1. Effect of hormones and peptides.- 3.2. Effect of pharmacological agents.- 4. Biliary pressure indices.- 4.1. Resting (initial, interdigestive) pressure.- 4.2. Passage (yield, opening) pressure.- 4.3. Filling pressure curves.- 4.4. Residual pressure.- 4.5. Flow rate (debimetry).- 4.6. Incremental pressure and recovery time.- 5. Dynamic (transducer) manometry.- 5.1. Endoscopic sphincter zone activity.- 5.2. Technique of operative biliary manometry.- 6. Disorders of the sphincter of Oddi.- 6.1. Iatrogenic stricture.- 6.2. Papillitis/Oedema.- 6.3. Papillary stenosis (choledocho-duodenal junctional stenosis).- 6.4. Functional disorders.- 7. Exploration of the common bile duct.- 1. Introduction.- 2. Technique of CBD exploration.- 2.1. Mobilization of duodenum and head of pancreas.- 2.2. Exposure of the CBD.- 2.3. Choledochotomy.- 2.4. Cholangioscopy.- 2.5. Additional procedures.- 2.6. Insertion of T-tube.- 2.7. Closure of choledochotomy wound.- 3. Trans-duodenal exploration od CBD.- 4. Intra-hepatic calculi.- 5. Assessment of terminal end of the CBD and sphincteric region.- 6. Post-operative removal of T-tube.- 7. Conclusion.- 8. Postoperative removal of retained stones through the T-Tube tract (in cooperation with J.A. Hamlin).- 1. Introduction.- 2. Stone extraction via the T-tube.- 3. Endoscopic method.- 4. Preparation for stone extraction.- 5. Technique.- 6. Results.- 7. Complications.- 8. Discussion.- Index of Subjects.

Read more less

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.

Read more less

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.

Read more less

Book SynopsisThis series of books is designed to help general practitioners. So are other books. What is unusual in this instance is their collec­ tive authorship; they are written by specialists working at district general hospitals. The writers derive their own experi­ ence from a range of cases less highly selected than those on which textbooks are traditionally based. They are also in a good position to pick out topics which they see creating difficulties for the practitioners of their district, whose personal capacities are familiar to them; and to concentrate on contexts where mistakes are most likely to occur. They are all well-accustomed to working in consultation. All the authors write from hospital experience and from the viewpoint of their specialty. There are, therefore, matters important to family practice which should be sought not within this series, but elsewhere. Within the series much practical and useful advice is to be found with which the general practitioner can compare his existing performance and build in new ideas and improved techniques. These books are attractively produced and I recommend them.Table of ContentsSection 1 General Aspects.- 1 Introduction.- Importance of rheumatology in practice.- Classification of rheumatic disorders.- Frequency of rheumatic disorders in family practice.- The outcome and prognosis of rheumatic diseases.- 2 Some illustrative problems.- Ankylosing spondylitis.- Non-steroidal anti-inflammatory drugs.- Pain and paraesthesiae in arms.- The acute back.- The painful foot.- A gouty attack.- The painful hip.- A knee effusion.- Laboratory investigations.- The acute neck.- Helpful organizations.- Polymyalgia rheumatic.- Early rheumatoid arthritis.- The painful shoulder.- Tennis elbow.- 3 Diagnosis and assessment of rheumatic disorders.- Symptoms, signs and their diagnostic significance.- X-rays and laboratory investigations.- Early diagnosis: indications for referral for further opinion.- 4 Effect of the psyche on rheumatism.- Assessment of the ‘psychological overlay’.- Psychological and emotional disturbance: their manifestations in rheumatology.- pure — psychogenic rheumatism.- 5 Basic management of arthritis and rheumatism.- Pain relief.- Disease activity and its reduction.- Improvement of mobility and function.- Analgesics.- Anti-inflammatory drugs.- Practical procedures in family practice.- Physiotherapy.- Occupational therapy and rehabilitation.- Section 2 The Common Rheumatic Disorders.- 6 Soft-tissue (non-articular) rheumatism.- Classification.- Clinical varieties and treatment.- 7 Osteoarthritis.- Aetiology and pathology.- Clinical varieties.- Management in family practice.- Management in hospital.- 8 Rheumatoid arthritis.- Early recognition.- Complications.- Differential diagnosis.- Management of the early case in practice.- Hospital management.- Rheumatoid arthritis in children and the elderly.- 9 Ankylosing spondylitis and seronegative spondarthritis.- Concept of seronegative spondarthritis.- Ankylosing spondylitis.- Clinical features.- Management in practice.- 10 Gout and crystal deposition arthritis.- Crystal deposition arthritis: clinical varieties.- Gout: investigation of patients.- Treatment of gout.- Investigation and treatment of chondrocalcinosis.- Section 3 Regional Pain Syndromes.- 11 Pain in the neck and back.- Common causes of pain.- Investigation of neck pain syndromes.- Treatment of neck pain syndromes.- Investigation of low back pain.- Treatment of low back pain.- 12 Pain syndromes of the upper limb.- Causes of pain.- Diagnosis and treatment of pain.- 13 Pain syndromes of the lower limb.- Causes of pain.- Diagnosis and treatment of pain.- Causes of painful feet.- Section 4 Appendix.- Glossary of rheumatic disorders.- Further reading.

Read more less

Book SynopsisThe liver has been an organ of mystery for centuries. Slowly but surely its secrets have been disclosed by both basic research and clinically oriented investigators whose current concepts have been brought together in this book by authors from five different countries. Three major groups with many subgroups have made inroads into our better understanding of the liver. The first of these comprises the basic scientists whose study of single hepatocytes may provide the key to comprehension of mechanisms that will lead eventually to improvement in the morbidity and mortality associated with a variety of hepatic disorders. The second group has been concerned with studies in depth of the liver's response to a variety of hormones, drugs, viruses, and infections. Both early and late results are their concern in the diagnosis and treatment of the individual patient. A third group comprises the surgeons who have become increasingly aggressive in the removal of one or more segments of the liver. They have increased the scope of hepatic resection as a result of a better understanding gained from studies of various segments of the liver. They have accepted the term, segmentectomy, and have extended feasible procedures to include trisegmentectomy. Indeed, trans­ plantation of the liver has been successfully accomplished.Table of Contents1. Segments of the liver: the anatomical basis for partial hepatectomy.- 2. Fine structure of human liver cells.- 3. Scanning electron microscopy of the mammalian liver.- 4. Freeze-fracture of hepatic fine structure under normal and experimental conditions.- 5. Morphofunctional features of cultured liver cells.- 6. Microcirculation of the liver, with special reference to the peribiliary portal system.- 7. Liver stereology.- 8. Liver physiology and biochemistry.- 9. Electron microscopy in human liver pathology.- 10. Radiology of the liver.- 11. Clinical aspects of modern hepatology.- 12. Trends and developments in hepatic surgery.

Read more less

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.

Read more less

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.

Read more less

Book SynopsisMultidrug-resistant tuberculosis: past, present and future Ivan Bastian and Franyoise Portaels Mycobacteriology Unit. Institute of Tropical Medicine. Antwerp. Belgium The Lord hath created medicines out of the earth and he that is wise will not abhor them. Ecclesiasticus 38:4, quoted by Selman Waksman when accepting the 1952 Nobel Prize for Medicine that was awarded for the discovery of the first effective antituberculosis drug. streptomycin. which was derived from the soil bacterium, Streptomyces grisells. 1. HISTORICAL PERSPECTIVE This book has been published at the close of the twentieth century when the medical profession and the general community are increasingly concerned about the threat of multidrug-resistant tuberculosis (MDRTB)[1. 2]. However, at this epoch, it is enlightening to move back from our immediate concerns about MDRTB 'hot spots' in Asia, South America, and the former Soviet Union [3], and to place our current predicament in an historical context. If the results of the global survey of antituberculosis drug resistance conducted by the World Health Organisation (WHO) and the International Union against Tuberculosis and Lung Disease (IUATLD) can be extrapolated, only 2. 2% of TB cases worldwide are due to multi drug­ resistant strains [3]. At the beginning of the 20th century, all TB cases were refractory to all available therapies. Great advances had been made during the 19th century in the understanding of the epidemiology and pathogenesis of TB, and in the diagnosis of the disease (reviewed in references 4-7).Table of Contents1. Introduction: Multidrug-resistant tuberculosis: past, present and future; I. Bastian, F. Portaels. 2. The epidemiology of multidrug-resistant tuberculosis in the United States and other established market economies; M. Moore, E. McCray, I.M. Onorato. 3. Epidemiology of multidrug-resistant tuberculosis in low- and middle-income countries; M.A. Espinal. 4. The interaction of human immunodeficiency virus and multidrug-resistant tuberculosis; E. McCray, I.M. Onorato. 5. Clinical mismanagement and other factors producing antituberculosis drug resistance; A. Pablos-Mendez, K. Lessnau. 6. The molecular mechanisms of drug resistance in mycobacterium tuberculosis; H.E. Takiff. 7. DOTS and multidrug-resistant tuberculosis; M.C. Raviglione. 8.Conventional methods for antimicrobial susceptibility testing of mycobacterium tuberculosis; L. Heifets. 9. Novel rapid antimicrobial susceptibility tests for mycobacterium tuberculosis; J.C. Palomino. 10. Pharmacology of the second-line antituberculosis drugs; C.A. Peloquin, B. Auclair. 11. Treatment of multidrug-resistant tuberculosis; M.D. Iseman, G.A. Huitt. 12. Treatment of multidrug resistant tuberculosis in developing countries; J. Crofton, A. van Deun. 13. Treatment outcome of multidrug-resistant tuberculosis; E.E. Telzak. 14. Chemoprophylaxis and BCG in contacts of multidrug resistant tuberculosis; R.A. Stapledon, R. Lumb, I.S. Lim. 15. Multidrug-resistant tuberculosis and the health care worker; D.M. Weinstock, K.A. Sepkowitz. 16. The development of new chemotherapeutics for multidrug-resistant tuberculosis; C.E. Barry. 17. Population dynamics and control of multidrug-resistant tuberculosis; C. Dye, B.G. Williams. 18. Administrative, engineering, and personal protective measures for controlling mycobacterium tuberculosis; C. Richards, W.R. Jarvis. 19. Making DOTS plus work; P.E. Farmer, S.S. Shin, J. Bayona, J.Y. Kim, J.J. Furin, J.G. Brenner.

Read more less

Book SynopsisPeritoneal dialysis represents an internal technique for membrane are becoming apparent. Studies of peritoneal blood purification. In this dialyzer the blood path, the dialysis increase understanding of the anatomy and phy­ membrane and the dialysate compartment are provided by siology of biological membranes and the factors influencing nature. The developments of chronic peritoneal catheters, the passive movement of solutes across the microcirculation and related structures. Peritoneal dialysis provides a 'win­ automated cycling equipment, solution preparation by reversed osmosis, manipulations of transport with drugs dow' to the visceral microcirculation in animals and hu­ and the experiences with continuous ambulatory peritoneal mans. dialysis and continuous cycling peritoneal dialysis have Peritoneal dialysis may be useful to treat problems other increased the interest in peritoneal dialysis. Publications than renal failure. Beneficial effects in the treatment of related to peritoneal dialysis probably exceed 400 annually. dysproteinemias, psoriasis, hypothermia, and many meta­ Peritoneal Dialysis International (formally Peritoneal Dialy­ bolic problems have been reported. The intraperitoneal sis Bulletin) the official journal of the International Society administration of chemotherapeutic agents draws upon and for Peritoneal Dialysis is a journal solely devoted to contributes to our understanding of peritoneal dialysis.Trade Review`This book can be recommended to any nephrologist with a strong interest in peritoneal dialysis.' R. Gutman, Dialysis and Transplantation, February 1990Table of Contents1. History of peritoneal dialysis.- 2. The peritoneal dialysis system.- 3. Role of the peritoneal microcirculation in peritoneal dialysis.- 4. Peritoneal cavity lymphatics.- 5. Peritoneal ultrastructure.- 6. Transport kinetics.- 7. Ultrafiltration with peritoneal dialysis.- 8. New approaches to intermittent peritoneal dialysis therapies.- 9. Continuous ambulatory peritoneal dialysis.- 10. Continuous cyclic peritoneal dialysis.- 11. Pharmacologic alteration of peritoneal transport rates.- 12. Comments on dialysis solution, antibiotic transport, poisonings, and novel uses of peritoneal dialysis.- 13. Nutritional management of patients undergoing peritoneal dialysis.- 14. Peritonitis.- 15. Complications other than peritonitis or those related to the catheter and the fate of uremic organ dysfunction in patients receiving peritoneal dialysis.- 16. Peritoneal dialysis access.- 17. Peritoneal dialysis in children.- 18. Peritoneal dialysis in diabetics.- 19. The stability and kinetics of peritoneal mass transfer.- 20. The USA CAPD registry. Characteristics of participants and selected outcome measures for the period January 1, 1981, through August 31, 1987.- 21. Peritoneal dialysis results in the EDTA registry.- 22. Quality of life in peritoneal dialysis patients: instruments and application.- Index of subjects.

Read more less

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).

Read more less

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’.

Read more less

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.

Read more less

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.

Read more less