Medical genetics Books

Book SynopsisGenetic Counseling Research: A Practical Guide is the first text devoted to research methodology in genetic counseling. This text offers step-by-step guidance for conducting research, from the development of a question to the publication of findings. Genetic counseling examples, user-friendly worksheets, and practical tips guide readers through the research and publication processes.With a highly accessible, pedagogical approach, this book will help promote quality research by genetic counselors and research supervisors--and in turn, increase the knowledge base for genetic counseling practice, other aspects of genetic counseling service delivery, and professional education. It will be an invaluable resource to the next generation of genetic counseling and its surrounding disciplines.Trade ReviewThe authors have done an excellent job with this manual of scientific methodology oriented to genetic counselors... The value of this book lies in the simplicity of its presentation and its usefulness to beginning genetic counselors who plan to embark on research and scientific writing. * Doody's Notes *Table of ContentsPreface ; Chapter 1: Developing Research Questions ; Chapter 2: Finding Sources ; Chapter 3: Writing a Review of Literature ; Chapter 4: Ethics in Research ; Chapter 5: Choosing a Paradigm ; Chapter 6: Designing a Quantitative Study ; Chapter 7: Quantitative Data Analysis: I've got data, how do I get answers? ; Chapter 8: Conducting Qualitative Genetic Counseling Research ; Chapter 9: Preparing a Manuscript for Publication ; Chapter 10: Guidelines for Directing Research ; References ; Appendix: Additional Resources for Researchers and Research Supervisors

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Book SynopsisNystagmus in Infancy and Childhood is a highly-illustrative and thoughtfully written text that provides clinicians and scientists with detailed yet concise information regarding our current understanding, evaluation, and treatments of nystagmus in infancy and childhood. Throughout the text are clinical pearls and narrative observations intended to help the reader appreciate the enormous strides forward in the past 50 years of nystagmus research. Timely and comprehensive, this book is an everything you need to know resource, and will provide the reader with:- detailed methodologies of investigation, including analysis software, models of the ocular motor system, and current hypotheses regarding ocular motor oscillations- complementary appendices that can be used for special purposes, i.e., as clinical examination sheets, patient information sheets, and algorithm for computer analysis of nystagmus waveforms- new therapeutic approaches, using relevant eye-movement data and mechanisms- a rTrade Review"This book is unique in that it describes, illustrates, and shares current understanding, evaluation and treatment of nystagmus in infancy and childhood. The duo of authors named below have broadened the frontiers of knowledge on this disorder, as you will discover from the research-based information provided in this book, with discussions and reference sources; and graphics, including charts, figures, formulas, images, and tables." --Biz India "...Enterprising and bold, and is an invaluable, eminently readable book for clinicians, vision scientists, and trainees." --PerceptionTable of ContentsChapter 1. Relevant Anatomy and Physiology ; 1.1 INFRANUCLEAR OCULAR MOTOR ANATOMY ; 1.1.1 Extraocular Muscles ; 1.1.2 Extraocular Muscle Pulleys ; 1.1.3 Orbital Tissues ; 1.2 SUPRANUCLEAR OCULAR MOTOR ANATOMY ; 1.2.1 Frontal Eye Fields ; 1.2.2 Superior Colliculus ; 1.2.3 Brainstem Nuclei ; 1.2.4 Vestibular Nuclei ; 1.2.5 Cerebellum ; 1.3 AFFERENT SYSTEM ; 1.3.1 Retina/Optic Nerve ; 1.3.2 Optic Nerve ; 1.3.3 Lateral Geniculate ; 1.3.4 Geniculostriate ; 1.3.5 Association Cortex ; 1.3.6 Ocular Motor Proprioception ; 1.4 EFFERENT SYSTEM ; 1.4.1 Smooth Pursuit System ; 1.4.2 Saccadic System ; 1.4.3 Vergence System ; 1.4.4 Vestibuloocular System ; Chapter 2. Infantile Nystagmus SyInfantile Nystagmus Syndromendrome ; 2.1 CHARACTERISTICS OF INS ; 2.1.1 History and Background ; 2.1.1.1 Ancient Descriptions and Theories ; 2.1.1.2 Connection to Fixation Attempt ; 2.1.1.3 Modern Physiological Investigation ; 2.1.2 Waveforms, Models, and Mechanisms ; 2.1.2.1 Waveform Types ; 2.1.2.2 Braking and Foveating Saccades ; 2.1.2.3 The Foveation Period ; 2.1.2.4 Foveation Accuracy ; 2.1.2.5 Target Acquisition Time ; 2.1.2.6 Smooth Pursuit ; 2.1.3 The Static Neutral Zone/Region ; 2.1.3.1 Latent Component ; 2.1.4 The Dynamic Neutral Zone/Region ; 2.1.4.1 Asymmetric, (a)Periodic Alternation ; 2.1.4.2 Optokinetic, Pursuit and Vestibuloocular Responses ; 2.1.5 The Null Angle/Zone/Region ; 2.1.6 The Convergence Null ; 2.1.7 The Saccadic Response ; 2.1.8 Static and Dynamic Head Posturing ; 2.1.9 Foveation and Visual Acuity (High Spatial Frequency Vision) ; 2.1.9.1. The eXpanded Nystagmus Acuity Function (NAFX) ; 2.1.9.1.1 NAFX vs. Gaze Angle ; 2.1.9.1.2 LFD and TID ; 2.1.10 Oscillopsia Suppression ; 2.1.10.1 Foveation Dynamics ; 2.1.10.2 Temporal Sampling ; 2.1.10.3 Efference Copy ; 2.1.11 Afferent Stimulation ; 2.1.11.1 Cutaneous Trigeminal Stimulation ; 2.1.11.2 Deep Muscle Stimulation ; 2.1.11.3 Contact Lenses ; 2.1.11.4 Biofeedback ; 2.1.12 Canine Nystagmus (Achiasmatic Belgian Sheepdog) ; 2.1.12.1 See-Saw ; 2.1.12.2 Pendular ; 2.1.12.3 Tenotomy & Reattachment Procedure ; 2.1.13 Canine Model of INS with RPE65 Retinal Degeneration (Briard) ; 2.2 ETIOLOGY OF INS ; 2.2.1 Familial (Gene Defect) ; 2.2.2 Developmental Disturbance Of Ocular Motor System with Associated Sensory System Deficit. ; 2.2.2.1 Albinism ; 2.2.2.2 Achiasma ; 2.2.2.3 Infantile Strabismus ; 2.2.2.4 Non-vectorial Visual Sensory Deficits ; 2.2.3 The Direct Cause(s) of INS with or without Sensory/Genetic Deficits ; 2.2.3.1 Loss of Smooth-Pursuit Damping ; 2.2.3.2 Tonic Vestibular-Optokinetic Imbalance ; 2.3 VISUAL FUNCTION DEFICITS AND MEASUREMENTS OF INS ; 2.3.1 Static Deficits ; 2.3.1.1 The eXpanded Nystagmus Acuity Function and Longest Foveation ; Domain Measures ; 2.3.2 Dynamic Deficits ; 2.3.2.1 Target Acquisition Time (Stationary Targets) ; 2.3.2.2 Target Acquisition Time (Moving Targets) ; 2.3.3 Clinical ; 2.3.3.1 Visual Acuity at Different Gaze Angles ; 2.4 TREATMENTS OF INS ; 2.4.1 Goals ; 2.4.2 Non-Surgical ; 2.4.2.1 Prisms ; 2.4.2.2 Contact Lenses ; 2.4.2.3 Drugs ; 2.4.2.4 Biofeedback ; 2.4.2.5 Gene-Transfer Therapy ; 2.4.3 Surgical ; 2.4.3.1 Four-Muscle Resection & Recession Procedure (Operation 1) ; (aka Kestenbaum, Anderson-Kestenbaum, or Anderson+Goto) ; 2.4.3.2 Two-Muscle Recession Procedure (Operation 1A) (aka Anderson) ; 2.4.3.3 Bilateral Medial Rectus Recession Procedure (Operation 8) ; 2.4.3.4 Tenotomy & Reattachment Procedure (Operation 6) ; Chapter 3. Fusion Maldevelopment Nystagmus Syndrome ; 3.1 CHARACTERISTICS OF FMNS ; 3.1.1 Waveforms, Models, and Mechanisms ; 3.1.1.1 Types (FMNS plus Nucleus of the Optic Tract) ; 3.1.1.2 The Fixating Eye ; 3.1.1.3 Target Foveation and Dual-Mode Fast Phases ; 3.1.1.4 Foveation Accuracy ; 3.1.2 Variation with Gaze Angle ; 3.1.3 Head Position ; 3.1.4 Foveation, NAFX, and Acuity ; 3.1.5 Efference Copy, Foveation, and Oscillopsia Suppression ; 3.2 TREATMENTS OF FMNS ; 3.2.1. Fixation Preference ; 3.2.2. Alexander's Law ; 3.2.3. Eye Muscle Surgery ; Chapter 4. Other Types of Nystagmus of Infancy ; 4.1 NYSTAGMUS BLOCKAGE SYNDROME ; 4.1.1 Characteristics of NBS ; 4.1.1.1 Multiple Types of Nystagmus ; 4.1.1.2 Waveforms and Mechanisms ; 4.1.1.2.1 Target Foveation ; 4.1.1.2.2 Foveation Accuracy ; 4.1.1.3 Purposive Esotropia ; 4.1.1.4 Head Position ; 4.1.1.5 Blockage Syndrome Types I and II ; 4.1.1.6 Foveation, NAFX, and Acuity ; 4.1.1.7 Efference Copy, Foveation, and Oscillopsia Suppression ; 4.1.2 Treatments of NBS ; 4.1.2.1. Fixation Preference ; 4.1.2.2. Alexander's Law ; 4.1.2.3. Surgical ; 4.1.2.3.1. Fixating Eye ; 4.2 SPASMUS NUTANS SYNDROME ; 4.2.1 Characteristics of SNS ; 4.2.1.1 Waveforms and Mechanisms ; 4.2.1.2 Variable Interocular Phase ; 4.2.1.3 Head Nodding ; 4.2.2 Treatment of SNS ; Chapter 5. Differential Diagnosis of Nystagmus In Infancy and Childhood ; 5.1 NYSTAGMUS WITHOUT ASSOCIATED NEUROLOGICAL DISEASE-<"BENIGN>" ; 5.1.1. Infantile Nystagmus Syndrome ; 5.1.1.1 Association with Strabismus ; 5.1.1.2 Clinical Signs and Symptoms ; 5.1.1.3 Differential Diagnosis ; 5.1.1.4 Reverse-Cover and Gaze-Angle Cover Tests ; 5.1.2 Fusion Maldevelopment Nystagmus Syndrome ; 5.1.2.1 Association with Strabismus ; 5.1.2.2 Clinical Signs and Symptoms ; 5.1.2.3 Differential Diagnosis ; 5.1.2.4 Alternate-Cover and Gaze-Angle Cover Tests ; 5.1.3 Nystagmus Blockage Syndrome ; 5.1.3.1 Association with Strabismus ; 5.1.3.2 Clinical Signs and Symptoms ; 5.1.3.3 Differential Diagnosis ; 5.1.4 Spasmus Nutans Syndrome ; 5.1.4.1 Association with Strabismus ; 5.1.4.2 Clinical Signs and Symptoms ; 5.1.4.3 Differential Diagnosis ; 5.1.5 Nystagmus and Strabismus ; 5.2 NYSTAGMUS WITH ASSOCIATED NEUROLOGICAL DISEASE-<"SYMPTOMATIC>" ; 5.2.1 Vestibular Nystagmus ; 5.2.1.1 Peripheral Vestibular Imbalance ; 5.2.1.2 Central Vestibular Imbalance ; 5.2.1.3 Central Vestibular Instability (Periodic Alternating) ; 5.2.2 Gaze-holding Deficiency Nystagmus ; 5.2.2.1 Eccentric Gaze, Gaze-evoked, Rebound ; 5.2.2.2 Gaze Instability (<"Run-away>") ; 5.2.3 <"Vision-Loss>" Nystagmus ; 5.2.3.1 Pre-chiasmal, Optic Chiasm, Post-chiasmal Vision Loss ; 5.2.4 Other Pendular Nystagmus Associated with Diseases of Central Myelin ; 5.2.4.1 Oculopalatal Tremor or <"Myoclonus>" ; 5.2.4.2 Pendular Vergence Nystagmus Associated with Whipple's Disease ; 5.2.5 Convergence/Convergence Evoked Nystagmus ; 5.2.6 Upbeat Nystagmus ; 5.2.7 Downbeat Nystagmus ; 5.2.8 Torsional Nystagmus ; 5.2.9 <"See-Saw>" Nystagmus ; 5.2.10 Lid Nystagmus ; 5.3 SACCADIC INTRUSIONS/OSCILLATIONS ; 5.3.1 Square Wave Jerks And Oscillations ; 5.3.2 Square-Wave Pulses ; 5.3.3 Staircase Saccadic Intrusions ; 5.3.4 Macrosaccadic Oscillations ; 5.3.5 Saccadic Pulses (Single And Double) ; 5.3.6 Convergence Retraction <"Nystagmus>" ; 5.3.7 Dissociated Ocular Oscillations ; 5.3.8 Dysmetric Saccades ; 5.3.9 Ocular Flutter ; 5.3.10 Flutter Dysmetria ; 5.3.11 Opsoclonus ; 5.3.11.1 Opsoclonus-Myoclonus ; 5.3.12 Superior Oblique Myokymia ; 5.3.13 Ocular bobbing ; 5.3.13.1 Typical ; 5.3.13.2 Monocular ; 5.3.13.3 Atypical ; 5.3.14 Psychogenic (Voluntary) Flutter ; Chapter 6. Afferent Visual System - Clinical Examination Procedures ; 6.1 SUBJECTIVE TESTING ; 6.1.1 Teller Acuity Card Procedure ; 6.1.2 Visual Acuity Testing (High Spatial Frequency Vision) ; 6.1.3 Stereo Testing ; 6.1.4 Color-Vision Testing ; 6.1.5 Contrast-Sensitivity Testing ; 6.1.6 Gaze- and Time-Dependent Acuity Testing ; 6.1.7 Visual Field Testing ; 6.2 OBJECTIVE TESTING ; 6.2.1 Visual Evoked Potentials ; 6.2.2 Electroretinography ; 6.2.3 Optical Coherence Tomography ; 6.2.4 Fundus Photography ; Chapter 7. Treatment ; 7.1 MEDICAL ; 7.1.1 Optical ; 7.1.1.1 Version Prisms ; 7.1.1.2 Vergence Prisms ; 7.1.1.3 Contact Lenses ; 7.1.1.4 Correction of Ammetropia/Anisometropia ; 7.1.1.5 Intraocular Lenses ; 7.1.1.6 Refractive Surgery ; 7.1.2 Pharmacological ; 7.1.2.1 Sedatives/Hypnotics ; 7.1.2.2 Neuroleptics ; 7.1.2.3 Psychoactive Medications ; 7.1.2.4 Antiseizure Medications ; 7.1.2.5 Botulinum ; 7.1.2.6 Anticholinesterases ; 7.2 EYE-MUSCLE SURGERY ; 7.2.1 General Principles ; 7.2.2 Classification ; 7.2.3 Preoperative Evaluation ; 7.2.3.1 Visual Acuity ; 7.2.3.2 Ocular Motor and Standard Clinical Evaluations ; 7.2.3.3 Strabismus ; 7.2.3.4 Eye-Movement Recordings ; 7.2.3.5 Head-Posture Measurements (<"Null Zones>") ; 7.2.3.6 Laboratory and Special Tests ; 7.2.4 Results ; 7.2.4.1 Visual Acuity ; 7.2.4.2 Strabismus ; 7.2.4.3 Eye-Movement Recordings ; 7.2.4.4 Head-Posture Measurements ; 7.2.5 Complications ; 7.3 OTHER ; 7.3.1 Biofeedback ; 7.3.2 Acupuncture ; 7.3.3 Cutaneous Stimulation ; 7.3.4 Gene Transfer Therapy ; 7.3.5 Mind-Body Stress Reduction-Mindful Medication Techniques ; 7.3.6 Occupational and Vision Therapy ; 7.3.7 Educational Assistance ; 7.4 ASSESSING THERAPEUTIC OUTCOMES (POST-THERAPY) ; 7.4.1 Direct Outcome Measures (NAFX, LFD, and Lt) ; 7.4.1.1 Post-Tenotomy & Reattachment ; 7.4.1.2 Post-Convergence/Bimedial Rectus Recession ; 7.4.1.3 Post-Four-Muscle Recession & Resection ; or Two-Muscle Recession + Tenotomy & Reattachment ; 7.4.1.4 Soft Contact Lenses ; 7.4.1.5 Systemic Acetazolamide and Topical Brinzolamide ; 7.4.2 Indirect/Clinical Outcome Measures ; 7.4.2.1 Visual Acuity at Different Gaze Angles ; 7.5 ESTIMATING THERAPEUTIC OUTCOMES (POST-THERAPY) ; 7.5.1 Direct Outcome Measures (NAFX, LFD, and Lt) ; 7.5.1.1 Tenotomy & Reattachment (INS without Afferent Visual Deficits) ; 7.5.1.2 Tenotomy & Reattachment (INS with Afferent Visual Deficits) ; 7.5.1.3 Prisms/Bimedial Rectus Recession ; 7.5.1.4 Soft Contact Lenses ; 7.5.2 Indirect/Clinical Outcome Measures ; 7.5.2.1 Visual Acuity at Different Gaze Angles ; Chapter 8. Summary and Conclusions ; Epilogue ; Appendices ; Appendix A. Eye-Movement Recording Systems and Criteria ; A.1 RECORDING METHODS ; A.1.1 Contact Electrooculography ; A.1.2 Infrared Reflection ; A.1.3 Scleral Search Coil ; A.1.4 High-Speed Video Oculography ; A.2 RESEARCH CRITERIA ; A.2.1 NAFX ; A.2.1.1 Methodology ; A.2.1.2 Estimating Visual Function Improvements ; A.3 CLINICAL CRITERIA ; A.3.1 Waveform Types ; A.3.2 Null and Neutral Zones ; A.3.3 PAN and APAN ; A.3.4 Symmetry, Conjugacy, Vergence, and Monocular Evaluation ; A.4 CALIBRATION TECHNIQUES ; A.4.1 Adults and Children ; A.4.1.1 Infantile Nystagmus ; A.4.1.2 Fusion Maldevelopment Nystagmus ; A.4.2 Infants ; Appendix B. Clinical Examination ; B.1 GENERAL CLINICAL EXAMINATION FORM ; B.2 NYSTAGMUS EXAMINATION FORM ; B.3 STRABISMUS EXAMINATION FORM ; B.4 CLINICAL PEARLS ; B.5 OPHTHALMOLOGICAL MYTHS AND FACTS ; Appendix C. Illustrative Cases and Treatment ; C.1 INFANTILE NYSTAGMUS SYNDROME ; C.1.1 Gaze-Angle Null Only ; C.1.1.1 Version Prisms ; C.1.1.2 Soft Contact Lenses ; C.1.1.3 Four-Muscle Resection, Recession, and Tenotomy & Reattachment ; C.1.1.3.1. Fine Tuning with Prisms ; C.1.1.3.2. Soft Contact Lenses ; C.1.2 Convergence Null Only ; C.1.2.1 Vergence Prisms with Negative Spheres ; C.1.2.2 Soft Contact Lenses ; C.1.2.3 Bimedial Recession ; C.1.3 Both Gaze-Angle and Convergence Nulls ; C.1.3.1 Convergence > Gaze-Angle ; C.1.3.1.1 Composite Prisms and Negative Spheres ; C.1.3.1.2 Base-out Prisms and Negative Spheres ; C.1.3.1.3 Soft Contact Lenses ; C.1.3.1.4 Bimedial Recession ; C.1.3.2 Gaze-Angle > Convergence ; C.1.3.2.1 Version Prisms ; C.1.3.2.2 Soft Contact Lenses ; C.1.3.2.3 Four-Muscle Resection, Recession and ; Tenotomy & Reattachment ; C.1.4 No Nulls ; C.1.4.1 Soft Contact Lenses ; C.1.4.2 Four-Muscle Tenotomy & Reattachment ; C.1.4.2.1 Tenotomy & Reattachment with Augmented ; Tendon Suture ; C.1.4.2.2 Augmented Tendon Suture Procedure sans ; Tenotomy & Reattachment ; C.1.4.3 Faden ; C.2 INFANTILE NYSTAGMUS PLUS STRABISMUS ; C.2.1 Gaze-Angle Null Only ; C.2.1.1 Four-Muscle Resection, Recession and Tenotomy & Reattachment ; C.2.2 Vertical and Torsional Nulls ; C.2.3 No Nulls ; C.2.3.1 Four-Muscle Tenotomy & Reattachment and Strabismus ; C.3 FUSION MALDEVELOPMENT NYSTAGMUS SYNDROME ; C.3.1 Uniocular Fixation ; C.3.2 Alternating Fixation ; C.3.3 Alexander's Law Threshold ; C.4 NYSTAGMUS BLOCKAGE SYNDROME ; C.4.1 Bimedial Recession (plus Tenotomy & Reattachment) ; C.4.2 Recession and Resection plus Tenotomy & Reattachment ; C.4.3 Four-Muscle Tenotomy & Reattachment ; Appendix D. Diagnosis and Treatment Flow Charts ; D.1 WAVEFORM-BASED DIAGNOSES ; D.2 THERAPEUTICALLY EXPLOITABLE WAVEFORM CHARACTERISTICS ; D.3 CLINICALLY BASED DIAGNOSES AND LIMITATIONS ; D.4 THERAPEUTICALLY EXPLOITABLE CLINICAL CHARACTERISTICS ; D.5 ANALYSIS GRAPHS ; Appendix E. Included Compact Disk and On-Line Access Videos ; E.1 <"EYEBALLS 3D>" EYE-MOTION AND WAVEFORM VIDEOS ; MV1 INS (PPfs) 1 cycle 1/20-speed illustrating foveation period ; MV2 INS (Jef) 4 cycles 1/3-speed with phase plane ; MV3 INS (PPfs) 3 cycles 1/2-speed illustrating well-developed foveation ; MV4 INS (PPfs) 3 cycles 1/5-speed with phase plane ; MV5 INS (PPfs) 1/2-speed 3-dimensional motion with subclinical SSN ; MV6 INS 1/5-speed Subclinical SSN motion amplified ; MV7 INS PPfs 1/2-speed from OMS model and patient ; MV8 INS (Pfs) step responses OMS model ; MV9 INS (PPfs) 1/2-speed pulse responses OMS model ; MV10 INS (PPfs) 1/2-speed OMS model ramp and step-ramp responses ; MV11 FMNS gaze-angle effect OMS model ; MV12 FMNS 1/2-speed alternate cover test OMS model ; MV13 FMNS adducting eye fixation OMS model ; MV14 INS damping with rapid convergence ; MV15 INS 1/2-speed pre-T&R ; MV16 INS 1/2-speed post-T&R ; MV17 INS 1/2-speed RPE65-deficient canine pre-gene therapy MV18 INS 1/2-speed RPE65-deficient canine pre-gene therapy scan path ; MV19 INS 1/2-speed RPE65-deficient canine post-gene therapy MV20 INS 1/2-speed RPE65-deficient canine post-gene therapy scan path ; MV21 Oscillopsia simulation ; MV22 Uniocular APN pre- and post-therapy ; MV23 INS (alternating J) OMS model ; E.1.1 PowerPoint Files ; E.1.1 E1_INS Dynamic VA ; E.1.2 E1_INS Latency Poster ; E.1.3 E1_ INS Latency ; E.1.4 E1_ INS Model Poster ; E.2 CANINE VIDEOS (PLUS OTHERS) ; CV1 Normal Brittany ; CV2 Achiasmatic Belgian Sheepdog: pre-T&R ; CV3 Achiasmatic Belgian Sheepdog: post-T&R ; CV4 RPE65-deficient canine: pre-gene therapy behavior ; CV5 RPE65-deficient canine: post-gene therapy behavior ; CV6 RPE65-deficient canine: pre-gene therapy eye movements ; CV7 RPE65-deficient canine: post-gene therapy eye movements ; CV8 Cat with INS ; CV9 Goat with SSN ; E.3 PATIENT VIDEOS ; PV1 Saccadic Initiation Failure ; PV2 Brainstem Tumor: Tonic Gaze Deviation ; PV3 Acquired Downbeat Nystagmus ; PV4 Acquired Gaze-Evoked (Gaze-Holding Failure) Nystagmus ; PV5 Acquired Unidirectional Gaze-Evoked (Gaze-Holding Failure) Nystagmus ; PV6 Ocular Motor Neuromyotonia of Cranial Nerve III ; PV7 Ocular Motor Neuromyotonia of Cranial Nerve VI ; PV8 Infant with Opsoclonus (Ocular Flutter - <"Saccadomania>") ; PV9 Acquired Saccadic Oscillations-1 ; PV10 Acquired Saccadic Oscillations-2 ; PV11Acquired Saccadic Oscillations-3 ; PV12 Acquired Nystagmus + Saccadic Oscillations ; PV13 Acquired Upbeat Nystagmus with Wiernecke's Encephalopathy ; PV14 Acquired Vertical Pendular Nystagmus ; PV15 Fusion Maldevelopment Nystagmus-1 ; PV16 Fusion Maldevelopment Nystagmus-2 ; PV17 Down Syndrome and Infantile Nystagmus ; PV18 Achiasma + See-Saw Nystagmus + Infantile Nystagmus ; PV19 Octogenarian with Infantile Nystagmus ; PV20 Infantile Nystagmus: Aperiodically Changing Intensity (Not Direction) ; PV21 Infantile Nystagmus: Aperiodically Changing Direction (Not Intensity) ; PV22 Infantile Nystagmus: Unequal-1 ; PV23 Infantile Nystagmus: Unequal-2 ; PV24 Infantile Nystagmus: Unequal-3 ; PV25 Infantile Nystagmus: Jerk with Extended Foveation ; PV26 Infantile + NOT Nystagmus: Dual Jerk ; PV27 Infantile Nystagmus: Pre- and Post-Operative ; PV28 Optic Nerve Dysplasia and Infantile Nystagmus: Multiplanar ; PV29 Infantile Nystagmus: Jerk with Extended Foveation ; PV30 Infantile Nystagmus: Unequal with a <"latent component>" ; PV31 Albinism and Infantile Nystagmus ; PV32 Optic Nerve Dysplasia and Infantile Nystagmus: Multiplanar ; PV33 Albinism, Up-gaze Null, and Infantile Nystagmus: Equal ; PV34 Retinal Dystrophy and Infantile Nystagmus: Multiplanar ; PV35 Albinism and Infantile Nystagmus: Pre- and Post-Operative Horizontal Null ; PV36 Albinism and Infantile Nystagmus: Multiplanar ; PV37 Infantile Nystagmus: Periodic Alternating ; PV38 Infantile Nystagmus: Asymmetric Aperiodic Alternating ; PV39 Albinism and Infantile Nystagmus: Pre- and Post-Operative Vertical Null ; PV40 Albinism, Up-gaze Null, and Infantile Nystagmus ; PV41 Albinism and Infantile Nystagmus ; PV42 <"Vertical>" Infantile Nystagmus-1 ; PV43 Retinal Dystrophy and <"Vertical>" Infantile Nystagmus-2 ; PV44 Spasmus Nutans Nystagmus-1 ; PV45 Spasmus Nutans Nystagmus-2 ; PV46 Voluntary Ocular Flutter ; Appendix F. Included Compact Disk and On-Line Access ; F.1 OMLAB REPORTS ; F.1.1 #011105 Recording and Calibrating the Eye Movements of Nystagmus Subjects ; F.1.2 #111005 Using the NAFX for Eye-Movement Fixation Data Analysis and Display ; F.1.3 #111905 Nystagmus Therapies: Types, Sites, and Measures ; F.1.4 #090506 Original Ocular Motor Analysis of the First Human with Achiasma: ; Documentation of Work Done in 1994 ; F.1.5 #123007 The Benefits of Extraocular Muscle Surgery in INS ; F.1.6 #030509 How Someone <"Sees>" the World and How to Clinically Assess ; Therapeutic Improvements in Visual Function ; F.2 PATIENT HANDOUTS ; F.2.1 INS Information ; F.2.2 INS Treatments ; F.2.3 Tenotomy and Reattachment ; F.2.4 INS and Acuity ; F.2.5 INS Miscellaneous ; F.3 PHYSICIAN/RESEARCH SCIENTIST WORKSHEETS ; F.3.1 Recession and Resection Surgical Calculation ; F.3.2 Estimating Improvement in Peak NAFX ; F.3.3 Estimating Improvement in LFD ; F.3.4 NAFX vs. Visual Acuity (Motor and Sensory Components) ; F.4 CLINICAL EXAMINATION FORMS ; F.4.1 General Clinical Examination Form ; F.4.2 Nystagmus Examination Form ; F.4.3 Strabismus Examination Form ; F.5 ANALYSIS SOFTWARE ; F.5.1 OMtools ; F.5.2 OMS Model GUI User Guide

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Trade ReviewGenomics and Clinical Medicine is the first textbook to comprehensively examine Medicine, especially pathophysiology and pathogenesis, through the lens of genomics. * JAMA *...written by an equally outstanding roaster of authors, deal with all aspects of Genomic Medicine. The book combines general principles, and specific aspects of clinical practice, all in the light of genome analysis and the current laboratory methodologies." * Stylianos E. Antonarakis, Professor and Chairman of Genetic Medicine, University of Geneva, President of Human Genome Organization, Geneva, Switzerland *...most physicians have had little or no training in genetics or genomics, and will be hard pressed to quickly acquire the scientific principles, the medical knowledge, and the psychosocial skills that will be necessary for the successful introduction of genomic medicine. Busy practitioners will desperately need an authoritative source of information that includes both principles and specific applications. The introduction of this textbook, with its distinguished and authoritative list of contributors, thus arrives in the nick of time. Welcome to the genome era. * Francis S. Collins, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA *...the book is a nice overview of developments in different fields of genomic medicine, written by a number of experts who give a thorough description of their argument. * European Journal of Human Genetics *Genomics and Clinical Medicine could be used during the first or second year of medical school to provide an underpinning of genomics as a unifying theme to the diverse array of topics that are typically taught at this time. * New England Journal of Medicine *This is a pioneering work of two doctors who as editors, have undertaken a monumental project, compiling a lot of relatively new knowledge put on paper by a total 50 pioneers in genomic medicine. All the authors and Drs. Kumar and Eng are to be congratulated for this unique, massive contribution to better understanding of disease so that eventually, millions of people can benefit from their work, to lead healthier lives. * Biz India Book Review *Table of ContentsPart I: Principles of Genomic Medicine ; 1. Genes, genetics and human genomics- Dhavendra Kumar ; 2. The human genome- structure and organization- Andrew P. Read ; 3. Human Proteomics- Brian Morrissey, Lisa Staunton, Stephen R Pennington ; 4. Epigenetics, Epigenomics and Human Disease- Aravind Ramesh, Cihangir Yandim, Theona Natisvili, Marta Mauri, Piu Pik Law, Jackson P.K. Chan, Santiago Uribe Lewis, Richard Festenstein ; 5. Genes, genome and developmental malformations- Dhavendra Kumar ; 6. Bioinformatics, Systems Biology and Systems Medicine- Binay Panda and Neeraja M Krishnan ; 7. Pharmacogenomics - Critical Component of Genomic Medicine- Wolfgang Sadee ; 8. New Drug Development, Drug Response, and Precision Medicines- Michelle Penny and Duncan McHale ; 9. Mitochondrial genetics and genomics in clinical medicine- Agnes Rotig and Dhavendra Kumar ; 10. Genomics Technology in Clinical Diagnostics- Kevin White ; 11. Microbial Genomics: targeted antimicrobial therapy and genome vaccines- Immaculada Margarit & Rino Rappuoli ; 12. Nutritional genomics- Zhenglong Gu, Kaixiong Ye and Patrick J. Stover ; 13. Genomics in Public and Population Health- Anastasia L. Wise and Teri A. Manolio ; 14. Genetic testing and genomic screening- Angus J. Clarke ; 15. Biobanking for genomics-based translational medicine- Steven J. Madore ; 16. Genetics and Genomics Education: The Path from Helix to Health- Reed E. Pyeritz ; 17. Ethical, Legal and Social Issues in Clinical Genomics- Caroline F. Wright, Anna Middleton & Michael Parker ; 18. The regulation of human genomics research- Jane Kaye ; Part II: Genomics in Clinical Practice ; 19. Genetic and genomic approaches to clinical medicine - Dhavendra Kumar ; 20. Genetic and genomic taxonomy of human disease - Dhavendra Kumar ; 21. Genomics of complex cardiovascular disease- Foram Ashar and Dan E. Arking ; 22. Genomics of type 2 diabetes mellitus and obesity-V. Radha and V. Mohan ; 23. Genetics and genomics of osteoporosis and related disorders- Yoshiji Yamada ; 24. Genetics and Genomics of chronic kidney disease- Albert C.M.Ong and Alexander P. Maxwell ; 25. Genetics and genomics in clinical hematology I- Hemostasis and Thrombosis- John Mcvey ; 26. Genetics and genomics in clinical hematology II- Inherited disorders of haemoglobin- David J. Weatherall ; 27. Genetics and genomics in clinical hematology III- Acute leukemias- Kenneth Mills ; 28. Genetics and Genomics of Chronic Inflammatory disorders I: Inflammatory Bowel Disease- Saad Pathan ; 29. Genetics and Genomics of Chronic Inflammatory disorders II: Rheumatoid Arthritis and Related Arthropathies- Kate McAllister and Stephen Eyre ; 30. Genetics and Genomics of Chronic Inflammatory disorders III: Bronchial asthma- William Cookson ; 31. Genetics and genomics of neuro-psychiatric diseases I: Seizure disorders - William Owen Pickrell ; 32. Genetics and genomics of neuro-psychiatric diseases II: Multiple Sclerosis- Katharine Harding and Neil Robertson ; 33. Genetics and genomics of neuro-psychiatric diseases III: The Common Dementias- Amy Gerrish, Rebecca Sims and Julie Williams ; 34. Genetics and genomics of neuro-psychiatric diseases IV: Schizophrenia and Bipolar Disorder - Jinbo Fan ; 35. Genetics and genomics of neuro-psychiatric diseases V: Learning and behavioural disorders- F Lucy Raymond ; 36. Clinical Cancer Genomics - Joanne Ngeow and Charis Eng ; 37. Genomics and Infectious diseases: Susceptibility, resistance and anti-microbial therapy-Michaela Fakiola, Wei Lu, Sarra E. Jamieson and Christopher S. Peacock ; 38. Genomic perspectives of clinical immunology- Cornelius L. Verweij ; 39. Genomic applications in Clinical Pediatrics- Vinod Varghese, Sian Morgan and Ian Frayling ; 40. Genetics and Genomics in clinical ophthalmology I: The spectrum of genetic eye disease-Graeme CM Black ; 41. Genetics and Genomics in clinical ophthalmology II: Glaucoma - Roshanak Sharafieh, Anne H. Child and Mansoor Sarfarazi ; 42. Genetics and Genomics in clinical ophthalmology III: Age-Related Macular Degeneration- Mark E. Kleinman and Jayakrishna Ambati ; 43. Genomic applications in audiological medicine- Daphne Karfunkel-Doron, Zippora Brownstein and Karen B. Avraham ; 44. Genetics and Genomics of skin diseases I: Diseases of the epidermis: eczema, psoriasis- Paul Bowen ; 45. Genetics and Genomics of skin diseases II: Genomics of pigmentation and skin cancer- Eugene Healy ; 46. The genetic and genomic practice of reproductive medicine- Dhavendra Kumar ; 47. Stem cell Genomics - Kyle M. Loh & Bing Lim & Lay Teng Ang ; 48. Genomic applications in critical care medicine- Mathew Frise, Charles Hinds & Julian Knight ; 49. Targeted molecular therapy- Mark Davies & Julian Sampson ; 50. Glossary for genetic and genomic medicine- terms, definitions and phrases- Dhavendra Kumar ; Index

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Book SynopsisThoroughly updated and revised, this new edition of the classic clinical text provides a comprehensive review of physical measurements used in the clinical evaluation of neonates, children, and adults presenting with dysmorphic features, structural anomalies, or genetic syndromes. It has been formatted as a practical manual that can be carried to the clinic or ward for an assessment of physical features and measurements.Trade Review"This is a high quality book with useful information presented in a well thoughtout and logical sequence. The handbook format provides an advantage over similar publications, allowing practitioners to carry it in the field. It provides a simple approach to areas such as craniometrics with enough detail to make it a great clinical tool." --Doody's "Very few books can compare to this work. This is clearly a must have for all observers of human morphology and the variances seen in human growth and development. ...the authors have outdone themselves with this update." Weighted Numerical Score: 100 - 5 Stars! --Doody's Health Sciences Book ReviewTable of Contents1. Introduction ; 2. Measurement ; 3. Proportional Growth and Normal Variants ; 4. Height and Length ; 5. Weight ; 6. Head Circumference (Occipitofrontal Circumference, OFC) ; 7. Craniofacies ; 8. Limbs ; 9. Chest and Trunk ; 10. Genitalia ; 11. Skin and Hair ; 12. Dermatoglyphics and Trichoglyphics ; 13. Use of Radiographs for Measurement ; 14. Developmental Data ; 15. Prenatal Ultrasound Measurements ; 16. Postmortem Organ Weights ; 17. Measurements for Specific Syndromes

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Book SynopsisKnowledge of the genetic basis of human diseases is growing rapidly, with important implications for pre-conceptional, prenatal, and predictive testing. While new genetic testing offers better insight into the causes of and susceptibility for heritable diseases, not all inherited diseases that can be predicted on the basis of genetic information can be treated or cured. Should we test everyone who wants to know his or her genetic status, even when there are no possibilities for treatment? What is the role of the right-not-to-know? Do we test children for adult onset disorders because the parents just have to know or do we respect the children''s right to choose when they are older? Do we allow commercial companies to offer genetic tests directly to consumers without the proper oversight regarding what the test results will mean? By using a creative approach that focuses on a single extended family as a case example to illustrate each chapter''s key point, the authors elucidate ethical issues arising in the genetics clinic and laboratory surrounding many timely issues, including: prenatal and pre-implantation genetic diagnosis assisted reproductive technologies incidental findings in genetic testing gene patenting testing children for adult onset disorders direct to consumer testing Ethical Dilemmas in Genetic Counseling: Principles through Case Scenarios is essential reading for anyone interested in the ethical issues surfacing in common genetics practice. Written exclusively by genetic counselors, it makes a significant contribution to the field of ethics in genetics and thus will appeal not only to genetic counselors but to physicians, nurses, and all those concerned with bioethics and social science.Trade ReviewThis collection of essays is sure to be a welcome addition to the library of anyone interested in genetics and genetics counselling. * Lauren L Baker, BA (Saint Louis University), Doody's Notes *Table of ContentsChapter 1: Introduction to Clinical Ethics - Rebecca R. Anderson ; Chapter 2: The (micro) Array of Options for Preconceptional and Prenatal Testing - Daragh Conrad and Christy ; Stanley ; Chapter 3: The "ART" of Assisted Reproductive Technologies - Sonja Eubanks Higgins ; Chapter 4: Testing Children for Adult Onset Conditions - Dawn Allain ; Chapter 5: These are Not the Genes You're Looking For: Incidental Findings Identified as a Result of Genetic Testing - Curtis Coughlin II ; Chapter 6: Is That a Threat or a Promise? Direct-to-Consumer Marketing of Genetic Testing - Laura Hercher ; Chapter 7: Genetics and Patent Law - Rebecca R. Anderson ; Chapter 8: Ethical Issues in Genetic and Genomic Research - Dawn Allain and Kelly Ormond

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Book SynopsisOutlines the laboratory diagnosis of a selected number of diseases which have relatively high incidence and existing screening programs.

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Book SynopsisA groundbreaking medical and social history of a devastating hereditary neurological disorder once demonized as “the witchcraft disease”Trade ReviewWinner of the 2009 American Medical Writers Association Medical Book Award in the Healthcare Professionals (non-physician) category, given by the American Medical Writers Association.“Wexler provides an accessible account of a disease in history. A richness of context gives her study its strength and character.”—Charles E. Rosenberg, Harvard University“This is a remarkable story of ‘St. Vitus' Dance’ (Huntington's Chorea) from many perspectives: personal, historical and social. Its meticulous history, drawn from archives and personal experience details how this late-onset hereditary disease was viewed not only medically but personally and socially by family members, neighbors and friends of afflicted individuals. This is a must read for anyone interested in the social history and policy surrounding hereditary disease.”—Garland Allen, Washington University in St. Louis“This book is an engaging chronicle of how the lived experience of illness in a family and community transforms over centuries into an intensely monitored and medicalized hereditary disease. Wexler does what historians do best: she folds what we take now to be a straightforward phenomenon, Huntington’s disease, back into the story of its making. By doing so, she tells us something profound about how we imagine ourselves and how we are connected to one another.”—Rosemarie Garland-Thomson, author of Extraordinary Bodies: Figuring Physical Disability in American Literature and Culture“A brave and pioneering work.”—Daniel Kevles, author of In the Name of Eugenics: Genetics and the Uses of Human Heredity “Alice Wexler has once again accomplished the near impossible by writing a fascinating academic page-turner. Filled with truth and brilliance throughout, The Woman Who Walked into the Sea is an amazing book that leaves the reader not only better informed, but materially enriched, moved by the experience, and not wanting it to end.”—Carole Browner, University of California, Los Angeles

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Book Synopsis

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