7 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... Signs of immunodeficiency ... Genetic Predisposition ... to produce all classes ... Agammaglobulinemia #XLinked #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
neurological lesion: Clinical ... • Symptoms and signs ... Cauda equina- decreased ... MCTD, Sjogren syndrome ... differential #algorithm
Nail Pathologies - Findings in or Near Nails

Paronychia 

A superficial infection of the proximal and lateral
the Fingers Clinically ... in innervation, genetics ... May arise from decreased ... seen in Reiter's syndrome ... #Signs #PhysicalExam
Hemophagocytic Lymphohistiocytosis (HLH)

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