7 results
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
confirmed the diagnosis ... and gut, which causes ... #clincial #peds ... #adrenal #calcifications ... #infant #NEJM #
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 ... deficiencies present in infants ... pathophysiology #genetics ... endocrinology #peds
Shock Overview
A state of tissue hypoxia due to decreased or dysregulated oxygen delivery or extraction, resulting
death Common Clinical ... anaphylaxis, toxins/meds ... O2 delivery • PE ... Classification #diagnosis ... #differential #causes
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
Shock Overview
A state of tissue hypoxia due to decreased or dysregulated oxygen delivery or extraction, resulting
death Common Clinical ... anaphylaxis, toxins/meds ... O2 delivery • PE ... Classification #diagnosis ... #differential #causes
Panic Disorder: Pathogenesis and clinical findings
Social Factors
 • Parenting and infant attachment
 • Childhood illness/abuse
 •
Pathogenesis and clinical ... Parenting and infant ... hypothalamic-pituitary-adrenal ... Neurotic personality Genetics ... Pathophysiology #diagnosis
Celiac disease is an immune-mediated, multisystem disorder that affects genetically susceptible individuals who are exposed to
without occipital calcifications ... Because the rash ... papulovesicular rash ... test for whom clinical ... Genetic testing