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diagnosis differential treatment neurology signs hematology genetics peds 21hydroxylasedeficiency 21ohd acromegaly adrenal algorithm alzheimersdisease amiodarone apml barre bronchiectasis cardiology chf
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Loss of parental copy ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #PraderWilli #Syndrome
Fat Embolism Syndrome Trauma to the long bone or pelvis accounts for —9096 of cases. The diagnosis
Fat Embolism Syndrome ... Pathophysiology ... onset widespread pulmonary ... Fat #Embolism #Syndrome ... Diagnosis #Signs #Symptoms
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
are not caused ... post-sarcoidosis fatigue syndrome ... Specific sarcoidosis syndromes ... ) • Löfgren syndrome ... • Heerfordt syndrome
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
• Other rare causes ... Carpal Tunnel Syndrome ... diagnosis #signs #symptoms ... #endocrinology ... #pathophysiology
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
vs Tumor Lysis Syndrome ... high WBC count cause ... hyperviscosity syndrome ... rasburicase Tumor Lysis Syndrome ... #Tumor #Lysis #Syndrome
Bronchiectasis - Summary What? • Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
inflammation Symptoms ... Most Common Causes ... obstruction • COPD ... • Mounier-Kuhn syndrome ... dyskinesia • Young syndrome
Pulmonary Renal Syndromes - OnePager Summary Autoimmune ANCA vasculitis (AAV): GPA (granulomatous with polyangiitis), EGPA (eosinophilic granulomatosis
Syndromes - OnePager ... Renal Syndromes ... or serologies + symptoms ... Goodpasture's cause ... #Renal #Syndromes
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Neurological Manifestations of Tuberculosis Spinal Arachnoiditis & Polyradiculopathy: • Subacute onset of limb weakness, bladder/bowel dysfunction, muscle
Reconstitution Inflammatory Syndrome ... lymphadenopathy, pulmonary ... symptoms Intracranial ... Children with pulmonary ... • Caused by immune
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