8 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... sleep apnea, cor pulmonale ... 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 ... 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 ... Diagnosis: HLH signs ... and symptoms can ... Diagnosis via genetic ... Lymphohistiocytosis #diagnosis #management
Pheochromocytoma - Diagnosis and Management Summary
10 percent rule = 10% of pheochromocytomas are extra-adrenal, multiple, bilateral,
bilateral, malignant, pediatric ... life • M=F Symptoms ... and Signs: 50% ... and signs: • ... may present with pulmonary
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 ... 90-120 days • Pediatric
Community Acquired Pneumonia (CAP) - Diagnosis and Management

Pneumonia Signs/Symptoms:
 • Confusion/disorientation (LR + 1.9)
 • Cough
Diagnosis and Management ... Pneumonia Signs ... /Symptoms: • Confusion ... CAP #Diagnosis #Management ... #treatment #Pulmonary
Cryptogenic Organizing Pneumonia - Illness Script

PATHOPHYSIOLOGY: Unknown trigger, reversible inflammatory/fibroproliferative process. Polypoid fibroblastic aggregates that plug
Males=Females SIGNS ... /SYMPTOMS: • Acute ... , neoplastic) TREATMENT ... Pneumonia #diagnosis #management ... #pulmonary
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: ... Treatment Approach