5 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 pulmonale ... #pathophysiology ... #peds #pediatrics
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 ... to produce all classes ... Agammaglobulinemia #XLinked #pathophysiology
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
extrapulmonary cases ... Clinical Signs ... years - May have signs ... pain, numbness, decreased ... reflexes Pathophysiology
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
Preoperative Risk Evaluation

Major Pre-Op Questions:
1. Does the patient have any modifiable risk factors that could be
murmur 3/6) - Pulmonary ... event, follow ACC algorithm ... Change in clinical ... days before Pulmonary ... or death (CARP, DECREASE