9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... > Neonatal and infantile ... #pathophysiology ... #peds #pediatrics
The 6 C’s of Primary Sclerosing Cholangitis (PSC)
PSC is a chronic, cholestatic, immune-mediated disease characterized by
- Genetic and environmental ... Care focuses on symptom ... disease management ... remain subject to clinical ... #diagnosis #management
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... Maternal Support - Critical ... obgyn #diagnosis #management ... #pathophysiology
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
Metformin Associated Lactic Acidosis (MALA) 

Pathophysiology of MALA
 - Metformin interferes with the activity of the
Acidosis (MALA) Pathophysiology ... cycle found in the liver ... presentation - Clinical ... also includes symptoms ... Toxicology #Diagnosis #Management
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... an underlying genetic ... HLH signs and symptoms ... lymph node, or liver ... Lymphohistiocytosis #diagnosis #management
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Diagnosis and Management ... GrepMed Handbook Clinical ... malignancy Pathophysiology ... GH stimulates liver ... phenytoin, minoxidil), genetic
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... survival is 93-95% Pathophysiology ... renal failure Clinical ... heart (2-5%), liver ... Sarcoidosis #Diagnosis #Management
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 ... Aspergillosis Pathophysiology ... Fungal #Diagnosis #Management