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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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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Long Covid, also known as post-Covid condition, refers to persistent symptoms lasting at least 2 months after the initial Covid-19 infection. Symptoms can include fatigue, shortness of breath, and cognitive dysfunction, impacting daily life. Around 10-30% of Covid patients may experience Long Covid,

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Recent studies delve into the impact of different steroids on mortality and organ support in hospitalized COVID-19 patients. The use of dexamethasone showed a significant reduction in 28-day mortality, especially in patients requiring oxygen support. On the other hand, the REMAP-CAP trial assessed t

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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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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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This document explores the implementation of the Leeds Long COVID Community Rehabilitation Pathway, highlighting the criteria for Post-COVID-19 syndrome, the role of primary care in referral pathways, and the success of the rehabilitation service in managing and supporting patients in the longer ter

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Rehabilitation services during the COVID-19 pandemic are crucial for continuing essential care and optimizing outcomes, especially for individuals with severe COVID-19 cases. Considerations for non-COVID-19 rehabilitation services must be maintained to address acute injuries, post-surgical recovery,

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North West London Long Covid Psychology Service, led by Dr. Katy Bradbury and Amiad Abrahams, offers a comprehensive biopsychosocial approach to treating Long Covid. The service follows a tiered treatment model, integrating psychological formulation and treatment, and emphasizes patient-centered car

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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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Explore the comprehensive pathway for children with Long COVID in the HIOW region, including definitions, symptoms, and management strategies. Learn about the signs and symptoms of Acute COVID-19, ongoing symptomatic COVID-19, and Post-COVID-19 syndrome. Discover the challenges faced by non-hospital

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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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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 GME Office at Johns Hopkins Hospital provided a situational update on 9/9/2021 regarding COVID numbers, trainee updates, and the state of the house. The hospital's leadership panel and surge plan for COVID patient management were discussed, along with details on COVID census, statewide hospitali

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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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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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Workplace COVID-19 Prevention Program (CPP) is essential to ensure employee health and safety by preventing COVID-19 exposure and spread. The program includes employee training, implementation of preventive measures, cleaning protocols, quarantine procedures, and return-to-work guidelines. Regular s

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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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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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The research explores the association between taste perception and the duration of COVID infection in long-COVID and COVID-reinfection cases. Reduced salivary gustin levels correlated with lower taste scores in long-COVID patients. The study also found an increase in the bitter taste receptor gene e

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