20 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
Causes of Common Accidental and Non-Accidental Pediatric Fractures - Differential Diagnosis Algorithm
Accidental Trauma
 - Distal Radius
Causes of Common ... Diagnosis Algorithm ... condylar • Lateral ... Fracture • < 2 ... #Causes #Peds #
Uncommon Causes of Noncardiogenic Pulmonary Edema (NCPE) - Differential Diagnosis Framework

High Altitude Pulmonary Edema:
 • Accumulation
Edema (NCPE) - Differential ... • Signs/Symptoms ... • Signs/Symptoms ... - The classic signs ... #differential #
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
sclerosis Pathophysiology ... the limbs; (2) ... fasciculations Common Symptoms ... examination 2. ... conditions listed in 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 ... • Natural history ... surface of legs), bilateral ... Diagnosis #Management #Signs ... #Symptoms
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
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
loss of autonomy 2) ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Subtypes #Classification
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
- 2/3 both bacterial ... Bilateral AOM mostly ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
to a decline in maternal ... Genetic Predisposition ... to produce all classes ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
Cord Disorders - Differential ... and signs below ... Non-compressive Spinal Cord Causes ... Spinal injuries 2. ... #algorithm