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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Cytokine release syndrome (CRS) is a potentially life-threatening inflammatory response linked to T-cell therapies. Insights from patients, carers, and healthcare professionals reveal varied interests in digital solutions for CRS monitoring. Market research interviews and patient group reports highl

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Nonsteroidal anti-inflammatory drugs (NSAIDs) are a class of analgesic, antipyretic, and anti-inflammatory medications that work by inhibiting prostaglandin synthesis. They provide relief from pain, reduce fever, and combat inflammation through various mechanisms. Aspirin, a commonly used NSAID, irr

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Non-Steroidal Anti-Inflammatory Drugs (NSAIDs) are a diverse group of medications with analgesic, anti-inflammatory, and antipyretic properties. They act primarily on peripheral pain mechanisms and vary in their selectivity of COX inhibition. This article explores the history, classification, and se

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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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Hereditary Connective Tissue Disorder, Hypermobile Ehlers-Danlos Syndrome (hEDS), and Mast Cell Activation Syndrome (MCAS) are three complex conditions with overlapping symptoms affecting collagen, joint laxity, and immune responses. Features associated with these conditions include joint pains, gas

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Chemical mediators of inflammation act on blood vessels and cells to contribute to an inflammatory response. These mediators include vasoactive amines like histamine and serotonin, plasma proteases such as the complement, kinin, and clotting systems, and important inflammatory mediators like C3a and

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In a secondary analysis of the CANTOS study, researchers evaluated the impact of residual inflammatory risk and residual cholesterol risk in a large cohort of atherosclerosis patients already receiving lipid-lowering therapy. Results showed the relative contributions of inflammation and cholesterol

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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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Chemical mediators of inflammation play a pivotal role in inducing specific events during acute inflammation. These mediators are produced in response to various triggers, including microbial products and host proteins, leading to a cascade of inflammatory responses. Understanding the sources and ef

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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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Non-steroidal anti-inflammatory drugs (NSAIDs) are a diverse group of medications with analgesic, anti-inflammatory, and antipyretic effects. They act primarily on peripheral pain mechanisms and have limited CNS effects. NSAIDs have a long history dating back to the use of White Willow bark, and the

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Dr. Margo Thienemann discusses the psychiatric medication management of a 10-year-old boy with inflammatory psychiatric disease, particularly focusing on Pediatric Acute-onset Neuropsychiatric Syndrome (PANS). The patient presented with various symptoms including compulsions, mood swings, OCD, oppos

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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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Cryptococcal Immune Reconstitution Inflammatory Syndrome (C-IRIS) is a condition where rapid reversal of immunodeficiency triggers exaggerated inflammatory reactions in response to Cryptococcus antigens. It can manifest as either Unmasking IRIS or Paradoxical IRIS, with common CNS presentations incl

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Pterygium, a common ocular surface lesion, has historically been considered degenerative due to factors like UV radiation exposure. However, recent research suggests an inflammatory component with cellular proliferative fibrosis and angiogenesis. This study presented at TOSCON 2024 delves into the h

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The inflammatory response is a crucial defense mechanism of the immune system. It comprises three lines of defense aimed at protecting the body from harmful pathogens. When a barrier is breached, such as by a splinter carrying bacteria, the inflammatory process is initiated. This includes the releas

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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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A 56-year-old male with a history of inflammatory bowel disease presented with severe symptoms necessitating hospitalization. Despite steroid therapy, lack of improvement led to consideration of a total colectomy. Colonoscopy and biopsy results favored ulcerative colitis over Crohn's disease. This c

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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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Inflammatory conditions of the heart, such as pericarditis and myocarditis, can have various causes and manifestations. Pericarditis can present as fibrinous, purulent, or hemorrhagic, each with distinct characteristics and implications. Myocarditis, on the other hand, can result from infections lik

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This guideline provides recommendations for managing Immune Reconstitution Inflammatory Syndrome (IRIS) in patients undergoing Antiretroviral Therapy (ART). It covers terminology, treatment recommendations, initiating ART, key points, and emphasizes not interrupting ART except in life-threatening ca

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