21 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 ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
Pathogenesis and clinical ... Hypertension Stage ... #Retinopathy #pathophysiology ... ophthalmology #diagnosis #signs ... #symptoms #complications
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... MRI, iADL scale, ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... Genetic Predisposition ... to produce all classes ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
Summary of clinical findings for patients with encephalitis, by cause

#Encephalitis #Signs #Symptoms #Table #Diagnosis #Differential #CSF
Summary of clinical ... encephalitis, by cause ... #Encephalitis #Signs ... #Symptoms #Table ... #Diagnosis #Differential
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... are not caused ... Self-limiting, chronic but stable ... Diagnosis #Management #Signs
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
severe clinical ... Post-operative state ... overload) Other Symptoms ... Syndrome #Nutrition #Differential ... #Diagnosis #Pathophysiology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... predisposition - Various genetic ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
Central Retinal Artery Occlusion: Pathogenesis and clinical findings
 • Inflammatory Disease: (i.e. GCA, SLE, GPA) ->
Pathogenesis and clinical ... retinal edema caused ... Occlusion #CRAO #pathophysiology ... ophthalmology #diagnosis #signs ... #symptoms