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 ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
findings: • Symptoms ... and signs below ... Cauda equina- decreased ... Causes: 1. ... differential #algorithm
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... to produce all classes ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... - Reflexes: decreased ... • Bilateral signs ... and/or symptoms ... • Infectious causes
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework

Heat Cramps:
 • Muscle pain or spasm -
Collapse: • Pathophysiology ... → Syncope • Signs ... /Symptoms: - Lightheadedness ... sweaty skin - Decreased ... differential #diagnosis #causes
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... multiple spinal cord ... - Causes progressive ... fasciculations Common Symptoms ... - Fatigue and decreased
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis

EPIDEMIOLOGY:
PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... : The exact cause ... - Familial cold ... neutropenia (CyN) This genetic ... This drop can increase