10 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
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
of Pregnancy (AFLP ... ) Pathophysiology ... postpartum): • Initial symptoms ... Maternal Support - Critical ... iMedEducation #AFLP
Abnormal liver function tests algorithm.
 This figure details the initial response to abnormal liver blood tests.
Abnormal liver function ... initial response to abnormal ... /or suspicious clinical ... symptoms/signs ... ALP, alkaline phosphatase
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
Phosphatase Of Clinical ... synthesized in: liver ... is critical for ... collection with EDTA Pathophysiology ... mineralization Symptoms
Primary Biliary Cirrhosis (PBC) - Summary

PBC Epidemiology:
 • Female:Male 9:1
 • Common European descent
 • Age:
65 years PBC Pathophysiology ... cholestasis → Cirrhosis/Liver ... PBC Signs and Symptoms ... obstruction • ALP ... or higher • Liver
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
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... patients have no symptoms ... heart (2-5%), liver ... (pain/abnormal
Rickets and Osteomalacia: Pathogenesis and Clinical Findings
 • Calcification inhibitors (excess exposure to A1, Fluoride, etidronate)
Pathogenesis and Clinical ... enzymes (like ALP ... (infants) • Abnormal ... #Osteomalacia #pathophysiology ... diagnosis #signs #symptoms
Hemophagocytic Lymphohistiocytosis (HLH)

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