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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Echocardiographic assessment plays a crucial role in the diagnosis, management, and prognostic evaluation of pulmonary arterial hypertension (PAH). This condition is characterized by elevated mean pulmonary arterial pressure and pulmonary vascular resistance, leading to various clinical features suc

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Explore the high-pressure and low-pressure circulations supplying the lungs, the concept of physiological shunt in pulmonary circulation, different lung zones based on blood flow, V/Q ratio and its clinical significance, and abnormal V/Q ratio patterns. Delve into the role of pulmonary circulations

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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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Pulmonary circulation, as explained by Professor Narsingh Verma, plays a crucial role in the respiratory system, showcasing distinct differences from systemic circulation. The low pressure and resistance in pulmonary circulation allow for optimal gas exchange at the alveolocapillary membrane. Variou

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Pulmonary Function Tests (PFTs) are vital for assessing pulmonary gas exchange through ventilation, diffusion, and lung perfusion. These tests include measurements of lung volume, airway patency, gas exchange efficacy, and pulmonary blood flow. PFTs offer benefits in diagnosing dyspnea, monitoring d

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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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This content provides an in-depth overview of Hantavirus Pulmonary Syndrome, including its clinical presentation, diagnosis, and management. It covers key points such as incubation periods, symptoms, and diagnostic tests like ELISA. The information emphasizes the need for a high index of suspicion d

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Breathing exercises, also known as ventilatory training, play a crucial role in improving pulmonary status, enhancing endurance, and increasing overall functionality in daily activities. These exercises help retrain respiratory muscles, improve ventilation, reduce breathing effort, enhance gas excha

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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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Pulmonary hydrotherapy is being explored as a safe and effective form of exercise for COPD patients, challenging previous beliefs about water-based activities. South Tees Pulmonary Rehabilitation Service is examining the benefits of hydrotherapy in improving exercise capacity and quality of life, ba

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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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The respiratory system consists of vital components like pulmonary compliance and surfactant, crucial for proper lung function. Pulmonary compliance reflects the lung's ease of expansion, influenced by factors like lung elasticity and surface tension. Surfactant, produced by type II alveolar cells,

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Postural drainage therapy is an intervention used for airway clearance by mobilizing secretions in specific lung segments towards the central airways. It involves placing the patient in various positions to facilitate gravity-assisted drainage. The therapy includes manual techniques such as percussi

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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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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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Haemodynamic consequences of acute pulmonary embolism (PE) include increased mean pulmonary artery pressure, rise in right ventricular preload and end-diastolic pressure, risk of right ventricular failure, and decreased pulmonary blood flow leading to low systolic blood pressure. Arterial hypoxia ca

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Pulmonary Arterial Hypertension (PAH) is a progressive disease characterized by increased blood pressure in the pulmonary artery, veins, or capillaries. This condition can lead to right ventricular failure and eventual death if left untreated. PAH can have various causes, including idiopathic factor

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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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Pulmonary hemorrhage in infants is a severe condition characterized by bloody discharge from the upper respiratory tract or endotracheal tube, often associated with prematurity, lung complications, infections, or trauma. The etiology, pathophysiology, clinical manifestations, and diagnosis of pulmon

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A 54-year-old woman post-laparotomy presents with respiratory distress and bilateral infiltrates on CXR. The case raises suspicion for Acute Respiratory Distress Syndrome (ARDS). Diagnostic criteria and potential investigations, such as CT pulmonary angiogram, thoracic USS, echocardiogram, bronchosc

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