6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... • Obesity -> Type ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
and Management Summary ... extrapulmonary cases Clinical ... Signs/Symptoms: ... decreased reflexes Pathophysiology ... damage - CXR should
Hypothyroid Myopathy
Very common (up to 80% ) in patients with hypothyroidism
Pathophysiology:
 • T4 deficiency leads to
fast-twitching Type ... slow-twitching Type ... fibers Spectrum of Clinical ... #signs #symptoms ... #endocrinology
Cullen's sign. Lipase 1,781. Bruising in the skin around the umbilicus. This sign is named after
Pathophysiology: ... Clinical Significance ... on its own but should ... onset of other symptoms ... In summary, Cullen's
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
Aortoenteric Fistula - Diagnosis and Management Summary
Epidemiology:
• Uncommon but life-threatening
• Most common site of bowel connection
and Management Summary ... the duodenum Clinical ... Signs/Symptoms: ... Pathophysiology: ... Diagnosis #Management #Summary