7 results
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... a scrotum #21HydroxylaseDeficiency ... #21OHD #pathophysiology ... endocrinology #peds
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
Cauda Equina Syndrome ... lumbar spine Signs ... Areflexia (loss of normal ... #MSK #pathophysiology ... #signs
Abnormal liver function tests algorithm.
 This figure details the initial response to abnormal liver blood tests.
tests algorithm ... suspicious clinical symptoms ... /signs should be ... presence of metabolic syndrome ... #Algorithm #Hepatology
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... ), liver (pain/abnormal ... : (distinct symptoms ... Diagnosis #Management #Signs ... #Symptoms
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
and signs below ... injury • Gait is abnormal ... MCTD, Sjogren syndrome ... dysfunction • Abnormal ... differential #algorithm
Chronic Exertional Compartment Syndrome (CECS)
 • Diagnosis Of CECS requires patient to undergo the same exertional
Exertional Compartment Syndrome ... > 20 mmHg • Normal ... CompartmentSyndrome #CECS #pathophysiology ... #diagnosis #signs ... #symptoms #msk