6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... findings • Maternal ... Prader-Willi Syndrome Signs ... pathophysiology #peds ... #pediatrics
Bilateral B-Lines in case of Pneumonia on Lung POCUS

Young healthy pt with fever/dyspnea. POCUS lung exam
on Lung POCUS ... POCUS lung exam ... partially seen shred sign ... NOT definitively diagnose ... #Lung #POCUS #clinical
Lung sliding & pneumonia on POCUS
The differential diagnosis for absence of lung sliding includes pneumonia; however,
Lung sliding & pneumonia ... on POCUS The differential ... diagnosis for absence ... #absence #Lung ... #POCUS #clinical
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Findings Autosomal ... 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
Pathogenesis and clinical ... findings The epidemiology ... 40% of patients diagnosed ... Genetic Predisposition ... e.g. bacterial pneumonia
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
Pathogenesis and Clinical ... Findings (in Children ... Streptococcus pneumoniae ... #symptoms #signs ... #peds #pediatrics