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diagnosis hepatology management peds cholangitis primary signs syndrome 21hydroxylasedeficiency 21ohd alzheimersdisease biliary endocrinology fever findings fungal geriatrics hematology hemeonc hemophagocytic
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia ... #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Primary Biliary Cirrhosis (PBC) - Summary PBC Epidemiology: • Female:Male 9:1 • Common European descent • Age:
Primary Biliary Cirrhosis ... 65 years PBC Pathophysiology ... /Liver failure ... PBC Signs and Symptoms ... or higher • Liver
The 6 C’s of Primary Sclerosing Cholangitis (PSC) PSC is a chronic, cholestatic, immune-mediated disease characterized by
CHOLANGITIS - Genetic ... • CIRRHOSIS - ... indications for liver ... Care focuses on symptom ... and end-stage liver
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Clinical features of Liver Disease in Children #Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology **
Clinical features of Liver ... in Children #Cirrhosis ... LiverFailure #Signs #Symptoms ... Diagnosis #Peds #Pediatrics
Mycoses HISTOPLASMOSIS • Inhalation of conidia → Yeast → travel to lymph nodes → spread in body • Bird
acute respiratory symptoms ... Rheumatologic symptoms ... Mississippi and Ohio River ... , neutropenia, cirrhosis ... Aspergillosis Pathophysiology
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
Familial) HLH: - Genetic ... Common Signs and Symptoms ... - Elevated liver ... Pathophysiology
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis EPIDEMIOLOGY: PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... reporting such symptoms ... several other symptoms ... syndrome - chronic infantile ... neutropenia (CyN) This genetic
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