10 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... > Neonatal and infantile ... #pathophysiology ... #peds #pediatrics
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... an underlying genetic ... Diagnosis: HLH signs ... Diagnosis via genetic ... lymph node, or liver
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 ... in Children #Cirrhosis ... #LiverFailure #Signs ... Diagnosis #Peds #Pediatrics
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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... GH stimulates liver ... phenytoin, minoxidil), genetic ... Endocrinology #Treatment ... #Pathophysiology
Nail Pathologies - Findings in or Near Nails

Paronychia 

A superficial infection of the proximal and lateral
the Fingers Clinically ... in innervation, genetics ... Seen in liver disease ... , usually cirrhosis ... #Signs #PhysicalExam
Mycoses

HISTOPLASMOSIS
• Inhalation of conidia → Yeast → travel to lymph nodes → spread in body
• Bird
has five major clinical ... Mississippi and Ohio River ... fungal stain of clinical ... , neutropenia, cirrhosis ... Aspergillosis Pathophysiology
Hepatopulmonary Syndrome - Illness Script
HPS is a pulmonary disorder of chronic liver disease characterized by a
abnormalities PATHOPHYSIOLOGY ... of orthodeoxia CLINICAL ... • Stigmata of cirrhosis ... the left heart TREATMENT ... only definitive treatment
Hepatorenal Syndrome (HRS)

Definition:
• Functional, potentially reversible kidney impairment.
• Occurs in advanced liver disease: cirrhosis, severe alcoholic
Occurs in advanced liver ... disease: cirrhosis ... Pathophysiology: ... Diagnosis (Clinical ... Treatment Overview
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
Familial) HLH: - Genetic ... Clinical Presentation ... • Common Signs ... - Elevated liver ... Pathophysiology