Angelman syndrome is a rare genetic condition impacting physical milestones and learning abilities. It affects around 1 in 15,000 individuals globally, with symptoms including speech difficulties, disrupted sleep, and seizures. Though there is no cure, increased awareness and research provide hope f

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This report provides insights into the enrollment, survey completion, KMT2A mutation types, reported issues, completion rates of relevant surveys, and symptoms in individuals diagnosed with Wiedemann-Steiner Syndrome. With a global perspective, the data highlights various domains of concern, offerin

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Wolfram Syndrome, also known as DIDMOAD, is a rare genetic disorder affecting about 1 in 160,000-770,000 people worldwide. It is characterized by the presence of Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness. The primary genetic mutation in the WFS1 gene leads to various symptom

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A case study of a 31-year-old male with sickle cell disease presenting in the emergency department with a pain crisis. The patient has a history of avascular necrosis, priapism, NSTEMI, cholecystectomy, and previous acute chest syndrome. Explore the patient's symptoms, past medical history, and reco

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Explore the anatomy of the anterior compartment of the leg and foot, focusing on structures like the anterior tibial artery, deep peroneal nerve, and dorsalis pedis artery. Learn about their origin, course, relations, and branches, as well as conditions like foot drop and fresher's syndrome. The pre

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Discover famous quotes on imposter syndrome, try to guess the authors behind them, and learn how even well-known figures like Albert Einstein and Sonia Sotomayor have experienced feelings of inadequacy and self-doubt. Explore the prevalence of imposter syndrome and share your own experiences to crea

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This informative content covers various hand and upper extremity conditions including nerve innervation, deformities, splints, and syndromes such as carpal tunnel syndrome and cubital tunnel syndrome. It discusses key nerves like the ulnar, median, and radial, their functions, associated deformities

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Sleep problems are common among older adults, especially those with chronic illnesses and mood disturbances. Primary sleep disorders that increase with age include sleep-related breathing disorders and restless legs syndrome. Changes in sleep patterns with aging involve decreases in total sleep time

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Explore the various aspects of Imposter Syndrome, including symptoms, impact, and management techniques. Understand how attributing successes, negative self-talk, and feelings of fraudulence can affect one's perception of ability and self-worth. Learn strategies such as identifying feelings, reframi

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This educational material provides an in-depth understanding of Neuroleptic Malignant Syndrome (NMS) and Serotonin Syndrome (SS) including their background, pathophysiology, clinical characteristics, differential diagnosis, risk factors, and treatment approaches. It also explores the historical back

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WAGR syndrome is a rare genetic condition associated with Wilms Tumor, aniridia, and developmental delays. Wilms Tumor is a form of kidney cancer mostly affecting children and is linked to genetic disorders like WAGR syndrome. The risk of Wilms Tumor is higher in children with WAGR syndrome, with po

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Motor abilities play a crucial role in the developmental journey of individuals with Williams Syndrome. From simple reflex movements to fine and gross motor skills, these abilities impact daily living, academic achievements, and overall cognitive and physical growth. Research on motor skills in both

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Karyotypes are photographic inventories of an individual's chromosomes, helping determine genetic sex and detect abnormalities. Common chromosomal conditions like Down syndrome, Klinefelter's syndrome, and Turner's syndrome are discussed, along with the impact of abnormal sex chromosomes on characte

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The McKenzie Method, developed by physiotherapist Robin McKenzie, is a classification-based system for treating pain. It involves assessment, treatment, and prevention steps, with an emphasis on centralizing symptoms and promoting pain reduction. The method categorizes pain into three syndromes - Po

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Discover how to outsmart your inner critic and tackle imposter syndrome effectively. Learn about the common features of imposter syndrome and ways to take action to be braver and build integrity. Challenge perfectionism, self-doubt, and limiting beliefs to shape your own success story.

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Neonatal Abstinence Syndrome (NAS) is a condition where infants experience withdrawal symptoms from exposure to drugs in utero, with a significant impact seen in regions like southeastern Kentucky due to the opioid crisis. This syndrome manifests through various short and long-term effects, necessit

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Chronic coronary syndrome involves a dynamic process of atherosclerotic plaque accumulation and functional alterations in coronary circulation. It includes various clinical scenarios such as stable angina, asymptomatic ischemia, prior myocardial infarction, and more. The condition can be modified by

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Plyometric jump to box and double leg hop training can significantly improve leg muscle power in badminton athletes, enhancing their ability to execute powerful smashes. This study focuses on the effects of specific plyometric exercises on leg strength essential for optimal badminton performance. Th

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Numerical chromosome aberrations involve the gain or loss of whole chromosomes, impacting the genome size and potentially leading to genetic mutations. Nondisjunction, where chromosomes fail to separate properly during cell division, can result in aneuploidy - the presence of an extra or missing chr

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Human cells have 22 pairs of autosomes and one pair of sex chromosomes, totaling 46. Karyotypes help diagnose chromosomal abnormalities by aligning chromosomes in size order. Nondisjunction during meiosis can lead to abnormal chromosome numbers in gametes. Disorders like Down Syndrome, XYY Syndrome,

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Down syndrome, also known as Trisomy 21, is a genetic condition caused by the presence of an extra 21st chromosome. Discovered by Dr. John Langdon Down in 1866, this condition affects individuals in various ways, influencing their development and abilities. People with Down syndrome may learn skills

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Human chromosomes play a crucial role in determining genetic traits and health conditions. An extra copy of chromosome 21 leads to Down syndrome, while conditions like Klinefelter's syndrome, Turner's syndrome, Trisomy 13, 18, and 23 have distinct symptoms and implications. Trisomies result from abn

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Down syndrome is a genetic condition caused by an extra chromosome, typically chromosome 21. This leads to physical and cognitive challenges, with individuals exhibiting unique abilities. The syndrome presents with distinctive physical features, such as flattened face, almond-shaped eyes, and poor m

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Wernicke-Korsakoff Syndrome (WKS) comprises Wernicke's Encephalopathy (WE) and Korsakoff Syndrome. WE presents with altered mental status, ocular signs, and ataxia, while Korsakoff Syndrome manifests as amnesia and confabulations. Untreated WE can progress to Korsakoff Syndrome in about 80% of cases

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Tourette Syndrome (TS) is a neurobiological disorder characterized by uncontrollable vocal and physical tics. Despite being underrepresented, it affects around 1 in 100 individuals. TS often goes undiagnosed, leading to misunderstanding and misrepresentation. The NJ Center for Tourette Syndrome prov

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Understanding the fascial compartments and anatomy of the leg and foot is essential for medical students. This lecture by Dr. Jamila El Medany and Dr. Saeed Vohra covers the deep fascia of the leg, fascial compartments, muscles, blood supply, and nerve supply of the anterior compartment, as well as

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Marfan Syndrome is a genetic disorder affecting connective tissue, leading to various physical manifestations such as long limbs, heart and eye issues, and more. This article explores the history, inheritance pattern, symptoms, effects, and diagnosis of Marfan Syndrome, shedding light on the challen

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Dr. Zoidis Evangelos is a distinguished professional in the field of endocrinology and metabolic syndrome, currently serving as a Lecturer at the Agricultural University of Athens. With a background in biochemistry and extensive research experience, his work focuses on nutritional physiology, molecu

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The Syndrome Definition Committee's monthly meeting will take place on April 1, 2020, from 1-2 pm ET. The agenda includes an overview of the previous call, discussions on new CCDD categories, CSTE Guidance Document updates, suicide-related syndrome definitions, ESSENCE coding tips, and more. Various

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Antiphospholipid antibody syndrome is an acquired disorder characterized by recurrent thrombosis or pregnancy complications due to autoantibodies against phospholipid-binding plasma proteins. Learn about its classification, epidemiology, pathogenesis, and diagnostic antibodies. Discover how lupus an

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Sleep disorders such as insomnia, restless leg syndrome, obstructive sleep apnea, parasomnias, and narcolepsy are prevalent conditions that affect the quality and pattern of sleep. Insomnia is characterized by difficulty initiating or maintaining sleep and is more common in females and older individ

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Overview of organic brain syndrome and delirium, including definitions, clinical features, and management. Delirium, a common psychiatric syndrome, affects consciousness, cognition, and perception, leading to increased morbidity and mortality. Recognize core symptoms, such as disturbances in conscio

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Pierre Robin Syndrome (PRS) presents challenges in paediatric anaesthesia, especially in infants undergoing procedures like cleft lip repair. PRS is characterized by micrognathia, glossoptosis, and respiratory distress. Other syndromes associated with cleft lip include Treacher Collins syndrome, Gol

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Explore a detailed case presentation and diagnostic testing for Restless Leg Syndrome (RLS). Learn about the patient's symptoms, history, differential diagnosis, and recommended medications and tests.

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Imposter Syndrome is characterized by feelings of inadequacy despite evidence of success, chronic self-doubt, and fear of being exposed as a fraud. It affects individuals' work performance, leads to avoidance of additional duties, assigns success to external factors, and can result in burnout. Howev

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Explore the anatomy of the lower leg, focusing on common injuries like shin splints. Learn about muscles, bones, and bony landmarks involved in conditions such as medial tibial stress syndrome. Discover the causes, symptoms, and treatments for these issues.

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Tibiofibular joints are crucial for leg stability and weight-bearing. The proximal and distal joints between the tibia and fibula allow minimal movement but provide essential support. The articulating surfaces, supporting structures, and neurovascular supply of both joints play key roles in leg func

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Early life intervention has been shown to reduce the clinical manifestations of Sjögren's syndrome in NOD.H-2h4 mice, which mimic key features of the human autoimmune disease. The syndrome is characterized by salivary gland autoantibodies, ectopic lymphoid follicles, reduced salivary and tear flow,

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This informative content provides detailed insights into the anterolateral compartment of the leg, facial compartments, muscles in the lateral compartment, nerve supply, anterior compartment of the leg, blood, and nerve supply, deep fibular nerve distribution, dorsum and dorsalis pedis artery. It di

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