9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... , sleep apnea, cor ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Hypochloremia - Differential Diagnosis Algorithm

Cause - Decreased Intake:
 • Low salt in diet
 • Exclusive D5W
Differential Diagnosis Algorithm ... Cause - Decreased ... - Gitelman SIGNS ... Hypotension • AMS ... #Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
• This is also ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... Inability to produce all ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... multiple spinal cord ... of UMN and LMN signs ... - Fatigue and decreased ... EMG: LMN Signs in
Preoperative Risk Evaluation

Major Pre-Op Questions:
1. Does the patient have any modifiable risk factors that could be
delaying the surgery increase ... event, follow ACC algorithm ... Cataract Plan for Meds ... are needed: • HgbA1c ... or death (CARP, DECREASE
Evaluation of suspected incomplete Kawasaki Disease

1. AHA consensus recommendations
2. Infants ≤6 months old on day ≥7
, elevation of ALT ... purposes of this algorithm ... lack of tapering, decreased ... clinical and lab signs ... #Diagnosis #Peds
Nail Pathologies - Findings in or Near Nails

Paronychia 

A superficial infection of the proximal and lateral
in innervation, genetics ... May arise from decreased ... illness, trauma, and cold ... psoriasis but also ... Diagnosis #Clinical #Signs
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis

EPIDEMIOLOGY:
PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... lymphadenopathy can also ... - Familial cold ... neutropenia (CyN) This genetic ... This drop can increase