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diagnosis genetics pediatrics 21hydroxylasedeficiency 21ohd alzheimersdisease aortoenteric dementia encephalopathy endocrinology fistula fungal infections infectiousdiseases mycoses neurology posterior praderwilli pres reversible
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Pathogenesis and Clinical ... Risk factor for Late ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... , vomiting • Late ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... sequences improve sensitivity ... Seizures: Treat with AEDs ... #diagnosis #management
Aortoenteric Fistula - Diagnosis and Management Summary Epidemiology: • Uncommon but life-threatening • Most common site of bowel connection
the duodenum Clinical ... Signs/Symptoms: ... that precedes a later ... Pathophysiology: ... undergo EGD - Sensitivity
Mycoses HISTOPLASMOSIS • Inhalation of conidia → Yeast → travel to lymph nodes → spread in body • Bird
antigen assay has a sensitivity ... has five major clinical ... fungal stain of clinical ... Aspergillosis Pathophysiology ... Fungal #Diagnosis #Management
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