9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... , sleep apnea, cor ... PraderWilli #Syndrome #genetics ... pathophysiology #peds
Clinical features of shock from dehydration in an infant

Decreased level of consciousness 
Sunken fontanelle 
Dry mucous
Clinical features ... in an infant Decreased ... urine output Cold ... #PhysicalExam #Signs ... #Dehydration #Peds
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 ... Late (shock): cold ... pathophysiology #genetics ... endocrinology #peds
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
of the clinical ... cellular function Clinical ... multiple spinal cord ... - Fatigue and decreased ... Exam: clinical evidence
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
Spinal Cord Disorders ... neurological lesion: Clinical ... • Symptoms and signs ... Cauda equina- decreased ... differential #algorithm
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 ... Inability to produce all ... humoral immunity Signs
Evaluation of suspected incomplete Kawasaki Disease

1. AHA consensus recommendations
2. Infants ≤6 months old on day ≥7
if they have no clinical ... , elevation of ALT ... lack of tapering, decreased ... and lab signs ( ... #Diagnosis #Peds
Preoperative Risk Evaluation

Major Pre-Op Questions:
1. Does the patient have any modifiable risk factors that could be
event, follow ACC algorithm ... Change in clinical ... Cataract Plan for Meds ... are needed: • HgbA1c ... or death (CARP, DECREASE
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 ... Pathology #Diagnosis #Clinical ... #Signs #PhysicalExam