10 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Acute Fatty Liver ... Pregnancy (AFLP) Pathophysiology ... Maternal Support - Critical ... #Pregnancy #hepatology ... diagnosis #management #pathophysiology
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... an underlying genetic ... Diagnosis via genetic ... lymph node, or liver ... management #treatment #hematology
The 6 C’s of Primary Sclerosing Cholangitis (PSC)
PSC is a chronic, cholestatic, immune-mediated disease characterized by
CHOLANGITIS - Genetic ... indications for liver ... and end-stage liver ... remain subject to clinical ... management #summary #Hepatology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... malignancy Pathophysiology ... GH stimulates liver ... phenytoin, minoxidil), genetic ... Endocrinology #Treatment #Pathophysiology
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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Clinical features ... of Liver Disease ... Diagnosis #Peds #Pediatrics ... #Hepatology
Disseminated Intravascular Coagulation (DIC) Overview

Increased Clotting and Consumption of Clotting Factors

Findings:
 • Bleeding
 • Recent history
protein C and S Pathophysiology ... organ damage Clinical ... DIC • Severe Liver ... treatment #management #hematology
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
Phosphatase Of Clinical ... synthesized in: liver ... Neuropathy ALP is critical ... collection with EDTA Pathophysiology ... Hyophosphatasia #hepatology
Hepatopulmonary Syndrome - Illness Script
HPS is a pulmonary disorder of chronic liver disease characterized by a
disorder of chronic liver ... : 1) chronic liver ... abnormalities PATHOPHYSIOLOGY ... of orthodeoxia CLINICAL ... cirrhosis #diagnosis #hepatology