4 results
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 ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Aplastic Anemia - Overview

Who?
• M = F
• 3 peaks:	1) Childhood	2) 15-25 years	3) >60 years

What?
• Aplastic anemia
Clinical Presentation ... and petechiae Causes ... Syndromes: - Genetic ... • Improve the symptoms ... #management
Scurvy (Vitamin C Deficiency) - Diagnosis and Management

Vitamin C is required for hydroxylation of proline residues
Deficiency) - Diagnosis ... and Management ... eating habits • Infants ... poor nutrition Clinical ... , or any other cause
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
Newborn Infant - ... When the diagnosis ... paediatrician or geneticist ... #Examination #Peds ... #Pediatrics #Diagnosis