This book provides a detailed overview of Down Syndrome, covering its history, incidence, inheritance patterns, and methods of prevention, including genetic counseling and prenatal screening. It specifically delves into the genetics and neurobiology of the condition.
Known for its focus on conceptual understanding, problem solving, and practical applications, this book explores essential genetics topics. The 10th Edition provides comprehensive coverage of important, emerging topics such as CRISPR-Cas, epigenetics, and genetic testing, and includes expanded coverage of gene expression regulation.
A comprehensive medical textbook focusing on the principles and applications of human genetics in clinical medicine, covering fundamental concepts and incorporating clinical case studies.
A comprehensive review section covering key definitions in genetic disorders, major chromosomal defects (Autosomal Trisomy and Sex Chromosome Syndromes), large deletion and microdeletion syndromes (e.g., DiGeorge, Prader-Willi), single gene defects, patterns of inheritance, neurocutaneous syndromes, familial cancer syndromes, and genetic disease risk assessment and diagnostic testing.
Rare genetic disorders present a unique and challenging landscape within the realm of medicine. These conditions, often arising from elusive mutations in an individual’s genetic code, affect a relatively small number of people individually but collectively impact millions worldwide. The book explores the complexity, diversity, and the relentless pursuit of knowledge and solutions necessary to understand, diagnose, and treat these disorders.
This text provides an in-depth exploration of the theoretical concepts and practical techniques used in Gas Chromatography (GC) and Mass Spectrometry (MS). Emphasis is placed on modern instrumentation, method development, and applications crucial for clinical chemistry, pharmacology, and forensic toxicology.
A comprehensive review of metabolic disorders covering Inborn Errors of Metabolism (IEM), including mechanisms of intoxication, inheritance patterns, and specific presentations like acute and chronic encephalopathy. The text details disorders of amino acid metabolism (e.g., MSUD, Homocystinuria), urea cycle disorders, organic acidemias, sugar intolerances, energy utilization defects, sphingolipidoses (e.g., Gaucher, Tay-Sachs), peroxisomal disorders, and abnormalities in mineral, purine, porphyrin, and lipid metabolism. Includes references to MedStudy Hub guidelines.
Boards & Beyond provides a virtual medical school curriculum. This book of slides is intended as a companion to the videos for easy reference and note-taking for students preparing for board exams such as USMLE Step 1.
This book provides a resource for providers who care for girls and women with Turner syndrome, focusing on health issues that occur with high frequency and necessitate frequent and earlier screening. The chapters are organized by subspecialty and major health issues to provide in-depth coverage of the health challenges faced by those with Turner syndrome.
A comprehensive resource detailing the essentials of medical genetics, designed specifically for nursing students and various health professionals, employing an interprofessional approach.
Covers the foundations of Human Genetics, including Cytogenetics, Formal Genetics, Statistical Genetics, and Clinical Genetics. The book contains 275 illustrations and 80 tables.
A detailed resource covering the technology, techniques, and clinical applications of diagnostic procedures for the ocular system. It addresses the complexity of the eye, including the globe, neural connections, and surrounding muscular tissue, essential for perceiving visual information of the highest quality.
This narrative review aims to provide a focused overview and update on Crush Syndrome (CS) for prehospital providers and emergency clinicians, particularly in the context of increasing frequency of mass casualty events. CS is a severe systemic manifestation of trauma and ischemia involving skeletal muscle due to prolonged crushing, with reported mortality up to 48% among earthquake survivors. The review stresses the critical need for immediate, aggressive resuscitation (including massive fluid administration) beginning ideally before extrication to mitigate severe systemic effects like hypovolemic shock, hyperkalemia, and kidney dysfunction, noting the challenges in timely diagnosis and treatment during large-scale natural disasters.
This book focuses on the use of high frequency ultrasound as an imaging modality for the musculoskeletal system, detailing technological advancements that have led to progressively improving image resolution and a broader scope of application.
A concise summary of benchmarks derived from the Preferred Practice Pattern (PPP) guidelines for managing conjunctivitis. It details recommendations for history, physical exams, ancillary tests, care management, and follow-up, along with explicit ratings for clinical importance (Level A, B, C) and supporting evidence strength.
Detailed description of the anatomy and physiology of the crystalline lens. Topics include the structure (capsule, epithelium, fibers), organization into nucleus and cortex (embryonic, fetal, infantile, adult), supporting zonules, metabolic activity, and nutritional sources primarily from aqueous humor, highlighting pathways like anaerobic glycolysis.
Highlights and full details regarding the use of EYLEA (aflibercept) for intravitreal injection, including indications for Neovascular Age-Related Macular Degeneration (AMD) and Macular Edema Following Central Retinal Vein Occlusion (CRVO), dosage schedules, preparation, contraindications, and warnings.
A comprehensive, step-by-step atlas guiding the reader on how to select and perform the best chemical peeling procedure for various skin conditions. This second edition provides updated materials, new compounds and techniques, extended case studies, and an increased focus on side effects and complication management protocols.
The 10th edition of this standard medical textbook on surgery, aimed at students for both study and practical application. It specifically considers the subject catalog and oral examinations required in medical licensing tests.
Ebook Info
Published: 2002
Number of pages:
Format: PDF
File Size: 35.09 MB
Authors: David Gawkrodger
Description
This concise textbook of dermatology is aimed at...
Ebook Info
Published:
Number of pages:
Format: PDF
File Size: 21.69 MB
Authors: Stanley F. Malamed DDS
Description
The European Respiratory Society (ERS) Handbook...
This book presents a collection of epilepsy case studies, offering clinical insights and 'pearls for patient care.' Topics covered include autoimmune epilepsies, genetics, rare disorders, and management strategies using anti-seizure medications.
A detailed medical text edited by Kyung-Hoi Koo, Michael A. Mont, and Lynne C. Jones, providing information on Osteonecrosis, a condition primarily affecting young adults.
