8 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
an underlying genetic ... most frequently affects ... Diagnosis: HLH signs ... and symptoms can ... Lymphohistiocytosis #diagnosis #management
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
Pituitary Mass Effects ... Signs / Symptoms ... #SideEffects #endocrinology ... mnemonic #GLFTAP #pathophysiology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Diagnosis and Management ... malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... #Endocrinology ... #Treatment #Pathophysiology
Chagas Disease - American Trypanosomiasis - Diagnosis and Management Summary
Chagas disease (American trypanosomiasis) is an infectious
Diagnosis and Management ... Romana's sign ... Indeterminate form (No signs ... /symptoms, positive ... IFA) assays to detect
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... preferentially affects ... • Bilateral signs ... and/or symptoms ... Myelitis #diagnosis #management
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
recognition and management ... Familial) HLH: - Genetic ... Presentation • Common Signs ... and Symptoms: ... Pathophysiology