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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Malnutrition in children under 5, specifically acute malnutrition, is a pressing issue in the Western Cape. This presentation outlines the current strategies, multisector engagement, causes, and impacts of acute malnutrition. It delves into the classifications of malnutrition, including severe and m

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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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Chest imaging plays a crucial role in screening for pulmonary tuberculosis (TB). This activity, led by Dana Kissner from Wayne State University Detroit Tuberculosis Clinic, focuses on interpreting chest imaging results to aid in the diagnosis and management of TB cases. The content includes informat

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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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This presentation covers key aspects of managing chest pain cases, including focused assessments, implementing protocols, responding to cardiac arrest, and facilitating effective communication. It discusses the importance of VHA Directive 1177 and various guidelines to improve patient outcomes in ac

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Superior Vena Cava (SVC) occlusion secondary to postradiation fibrosis is a rare condition that can lead to debilitating symptoms. In this case study, a 47-year-old male with a history of Hodgkin lymphoma treated with chest radiotherapy presented with exertional chest pain and other associated sympt

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This content highlights the prevalence rates of acute malnutrition, severe acute malnutrition (SAM), moderate acute malnutrition (MAM), childhood stunting, acute malnutrition based on MUAC and edema, and acute malnutrition in pregnant and lactating women. The data is based on various criteria such a

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Inflammation is the response of tissues to harmful agents, categorized as acute or chronic. Acute inflammation is rapid and short-lived, while chronic inflammation is insidious and prolonged. Chemical mediators play a crucial role in both forms, leading to tissue necrosis. The five cardinal signs of

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This detailed guide covers the definition, general approach, history taking, physical examination, investigations, diagnosis, and management of acute abdomen cases. Learn about common causes, such as acute appendicitis, bowel obstruction, and medical conditions. Real-life scenarios illustrate differ

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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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Chest pain is a common presentation requiring swift identification and management to distinguish life-threatening causes like Myocardial Infarction. This article focuses on the approach to chest pain at a primary healthcare level, detailing cardiac and non-cardiac causes, recognizing urgent cases, a

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This training course focuses on inpatient management of severe acute malnutrition, teaching procedures outlined in the national Community-Based Management of Severe Acute Malnutrition Guidelines. The training aims to reduce case fatality rates significantly and is designed for physicians, senior nur

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Acute malnutrition, particularly severe acute malnutrition (SAM), requires careful fluid management and a structured treatment approach involving stabilization, transition, and rehabilitation phases. This condition results from inadequate dietary intake or acute infections, leading to severe wasting

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Acute Coronary Syndrome (ACS) encompasses a spectrum of conditions involving reduced blood flow in the heart. Ischemic Heart Disease (IHD) is a leading cause of mortality worldwide, with ST-elevation myocardial infarction (STEMI) being more common in younger men. Prompt diagnosis, treatment, and adh

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The Global Acute Respiratory Distress Syndrome Market is expected to reach USD 2,137.6 Million by 2030, at a CAGR of 7.9% during the forecast period 2021-2030.

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Explore the latest findings in cardiac research focusing on two critical clinical problems: Metabolic Syndrome (MetS) and Acute Myocardial Infarction. The studies involve human clinical data, blood sampling, adipose tissue biopsies, cell culture studies, thrombus aspiration, gene arrays, and regulat

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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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Acute coronary syndromes (ACS) encompass a spectrum of conditions such as unstable angina, non-ST-segment elevated MI (NSTEMI), and ST-segment elevated MI (STEMI) that result from coronary artery occlusion. Risk factors for ACS include family history of heart disease, obesity, smoking, and hypertens

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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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Comprehensive discussion on assessing patients with abnormal liver test results, focusing on distinguishing between acute and chronic liver conditions. Covers diagnostic workup, patient cases, and differential diagnosis, emphasizing the importance of patient history, physical examination, and key di

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This review assesses the quality of care provided to patients aged over 16 years with acute bowel obstruction. Significant delays were identified in the care pathway, from imaging requests to availability of operating theatres. Recommendations include prompt CT scans with intravenous contrast for de

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24-year-old male patient with a history of asthma and bronchiectasis presents with worsening shortness of breath and chest pain. Neonatal history reveals Situs inversus and dextrocardia, recurrent upper and lower respiratory tract infections, while childhood history includes asthma diagnosis and chr

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This comprehensive guide provides detailed information on creating and understanding acute care plans, including the purpose of an acute plan, who needs one, what information can be written in an acute plan, examples of baseline clinical parameters, alerts to more detailed plans, and insights into c

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The Department of Health in Florida has released the 2019 data on the epidemiology of Hepatitis B and C as of January 21, 2021. The report includes information on acute and chronic cases, technical notes on case definitions, and changes in national case definitions in 2020. Acute cases require speci

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In this medical case study, two scenarios of adult males presenting with pleuritic chest pain and pneumothorax are discussed. The first scenario involves a 25-year-old with sudden onset chest pain, while the second scenario involves a 60-year-old with COPD. Recommendations for managing pneumothorax,

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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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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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Acute muscular weakness in children is a neurological emergency defined by sudden onset muscle weakness or paralysis in less than 5 days. When evaluating a child with acute flaccid paralysis, consider factors like onset rhythm, associated symptoms, and past medical history. A thorough physical and n

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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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Providing acute nursing care for children at home from 8 am to 10 pm, the Children's Hospital @ Home in Tower Hamlets offers services such as IVABs, NGT re-insertion, acute assessment, wheeze management, and home-based phototherapy. The initiative aims to reduce hospital stays, minimize admissions f

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A 58-year-old man presents with acute severe chest pain, diaphoresis, dyspnea, and risk factors for coronary heart disease. The most likely diagnosis is acute myocardial infarction. Immediate steps include placing the patient on a cardiac monitor, obtaining an ECG, and administering aspirin. Additio

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