11 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... 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
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... vomiting • Late (shock ... #genetics #endocrinology ... #peds #pediatrics
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... predisposition - Various genetic ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... rubbing • Atopic diseases ... / Symptoms / Complications ... #Keratoconus #pathophysiology
Kawasaki Disease: Clinical Findings
Diagnostic Criteria - Fever and 4/5 of the following:
 • Conjunctivitis
 • Polymorphous
Kawasaki Disease ... : Clinical Findings ... Criteria #Diagnosis #Pathophysiology ... #Signs #Symptoms ... #Vasculitis
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... history of the disease ... Genetic Predisposition ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
Giant Cell Arteritis (Polymyalgia Rheumatica and Cranial Arteritis): Pathogenesis and Clinical Findings
 - Morning Stiffness (>1
Pathogenesis and Clinical ... Anemia of Chronic Disease ... CranialArteritis #Pathophysiology ... #Signs #Symptoms ... #Diagnosis #Vasculitis
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
Valvular heart disease ... Genetic predisposition ... Pts: cardiogenic shock ... during Delivery • Stable ... teratogenic GDMT meds
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Infection/Sepsis/Shock ... , Autoimmune disease ... Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... Transverse Myelitis - Clinical ... • Bilateral signs ... and/or symptoms ... - Sjogren - Vasculitis