23 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
Complications of Measles: Pathogenesis and Clinical Findings
 • ADEM -> Fever, headache, neck stiffness, BBD, mental
Pathogenesis and Clinical ... N/V, elevated liver ... diagnosis #signs #symptoms ... #pathophysiology
Abnormal liver function tests algorithm.
 This figure details the initial response to abnormal liver blood tests.
evaluation of the clinical ... /or suspicious clinical ... symptoms/signs ... the remainder, a clinical ... ALP, alkaline phosphatase
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
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
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
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
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 ... Diagnosis via genetic ... lymph node, or liver