8 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
The infant with tachypnea or wheeze - Clinical Conditions to Consider
 - Bronchiolitis 
 - Pneumonia
The infant with ... tachypnea or wheeze - Clinical ... Other causes #Diagnosis ... #Peds #Pediatrics ... #Differential #Assessment
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 ... pathophysiology #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
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
Evaluation of suspected incomplete Kawasaki Disease

1. AHA consensus recommendations
2. Infants ≤6 months old on day ≥7
Infants ≤6 months ... if they have no clinical ... and lab signs ( ... #Diagnosis #Peds ... #Pediatrics #Kawasaki
Facial bruising- Marked bruising of the face can occur during delivery. It is more common when
difficult, or when the infant ... When the infant ... the body, the diagnosis ... #peds #pediatrics ... #clinical #photo