12 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... delayed puberty -> Infertility ... pathophysiology #peds ... #pediatrics
Epiglottitis - Swollen inflamed epiglottis 
Clinical (Rapid onset) 
 • Fever 
 • Sore throat
inflamed epiglottis Clinical ... #Epiglottitis #Signs ... #Causes #Diagnosis ... #Differential # ... Peds #Pediatrics
CATCH Predictors for Clinically Significant TBI 
 - GCS Less than 15 at 2 hours post
Predictors for Clinically ... exam - Any Sign ... Predictors #Traumatic #Brain ... #Injury #Diagnosis ... #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 ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Geriatrics #Workup
Evaluation of suspected incomplete Kawasaki Disease

1. AHA consensus recommendations
2. Infants ≤6 months old on day ≥7
if they have no clinical ... those >day 10 with clinical ... and lab signs ( ... #Diagnosis #Peds ... #Pediatrics #Kawasaki
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
of UMN and LMN signs ... of UMN and LMN signs ... both UMN and LMN signs ... EMG: LMN Signs in ... MRI: Brain, cervical
Myasthenia Gravis Overview

Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction.  Ab to
life-threatening Differential ... Myotonic dystrophy - Brain ... myasthenia Diagnosis ... test - Cogan sign ... - Peek sign
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
surrogate measure of brain ... is also a late sign ... are observed for signs ... #Examination #Peds ... #Pediatrics #Diagnosis
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
Transverse Myelitis - Clinical ... Criteria: • Sensory ... • Bilateral signs ... ruled out • Brain ... management #neurology #differential