6 results
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
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
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
Abnormal liver function tests algorithm.
 This figure details the initial response to abnormal liver blood tests.
tests algorithm ... /or suspicious clinical ... symptoms/signs ... ALP, alkaline phosphatase ... LFTs #Abnormal #Algorithm
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
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