11 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 ... #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Total Anomalous Pulmonary ... Classification • Pathophysiology ... PVO Present • Diagnosis ... Classic “snowman sign ... #peds #pediatrics
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
cases Clinical Signs ... years - May have signs ... pulmonary TB PE ... decreased reflexes Pathophysiology ... for concomitant pulmonary
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... non-arousable, decr urine ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Pulmonary Renal Syndromes - OnePager Summary
Autoimmune ANCA vasculitis (AAV): GPA (granulomatous with polyangiitis), EGPA (eosinophilic granulomatosis
mononeuritis multiplex WORKUP ... Anti-GBM antibody • Urine ... : UA, Urine protein ... or serologies + symptoms ... #management #treatment
Emphysematous Cystitis
Epidemiology:
 • Usually middle-aged diabetic women
 • Other RF: neurogenic bladder, urinary tract outlet obstruction,
/Symptoms: • Usually ... be present or signs ... Pathophysiology: ... present • UA and Urine ... #management
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
and Management ... survival is 93-95% Pathophysiology ... Pulmonary: dyspnea ... acute sarcoidosis Pulmonary ... #Management #Signs
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
Cryptogenic Organizing Pneumonia - Illness Script

PATHOPHYSIOLOGY: Unknown trigger, reversible inflammatory/fibroproliferative process. Polypoid fibroblastic aggregates that plug
Illness Script PATHOPHYSIOLOGY ... Males=Females SIGNS ... /SYMPTOMS: • Acute ... misdiagnosed as CAP • Symptoms ... #management #pulmonary
Community Acquired Pneumonia (CAP) - Diagnosis and Management

Pneumonia Signs/Symptoms:
 • Confusion/disorientation (LR + 1.9)
 • Cough
and Management ... Pneumonia Signs ... /Symptoms: • Confusion ... Blood cultures - Urine ... #Pulmonary #Community