6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... delayed puberty -> Infertility ... 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 ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #genetics #endocrinology ... #peds #pediatrics
CRIES is a 10-point scale, using a physiologic basis similar to APGAR: Crying; Requires increased oxygen
Increased vital signs ... in the ED, the clinician ... #Diagnosis #Peds ... #Pediatrics #PainScale ... PostOperative #Assessment
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... neuropsychological assessment ... (parkinsonian signs ... hyperorality, - 25% genetic ... #Geriatrics #Workup
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
Pathogenesis and Clinical ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... always needs urgent assessment ... #Examination #Peds ... #Pediatrics #Diagnosis