9 results
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 ... , vomiting • Late ... #genetics #endocrinology ... #peds #pediatrics
Uncommon Causes of Noncardiogenic Pulmonary Edema (NCPE) - Differential Diagnosis Framework

High Altitude Pulmonary Edema:
 • Accumulation
Edema (NCPE) - Differential ... 10,000 ft) • Symptoms ... with exertion, difficulty ... decreased respiratory rate ... edema #causes #differential
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... roughly double this rate ... Genetic Predisposition ... immunity Signs/Symptoms ... Agammaglobulinemia #XLinked #pathophysiology
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
of the clinical ... lateral sclerosis Pathophysiology ... features developing later ... fasciculations Common Symptoms ... conditions listed in differential
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... levels not useful as ... Diagnosis #Management #Endocrinology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... edema visualized as ... Reversible course Differential ... Seizures: Treat with AEDs
Polymyalgia Rheumatica (PMR) Diagnosis and Management Summary

WHAT?
 • Polymyalgia rheumatica (PMR) is a common systemic inflammatory
commonly describe difficulty ... CLINICAL: • Physical ... • Also consider ... and leukocytosis also ... normal and can help differentiate
Aortoenteric Fistula - Diagnosis and Management Summary
Epidemiology:
• Uncommon but life-threatening
• Most common site of bowel connection
the duodenum Clinical ... Signs/Symptoms: ... • Should be on differential ... that precedes a later ... Pathophysiology:
Hemophagocytic Lymphohistiocytosis (HLH)

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