. Approach to the Child with Birth Defects
Approach to the Child with Birth Defects John C. Carey and Michael J. Bamshad In the mid-1960s, David W. Smith coined the term dysmorphology to describe the field…
. Menstrual Problems
Menstrual Problems Jennifer C. Edman and Mary-Ann Shafer The attainment of ovulatory menstrual cycles is one feature of maturation and synchronization of the hypothalamic-pituitary-gonadal axis. Despite frequent anovulatory…
. Disorders of Pentose Phosphate Pathway
Disorders of Pentose Phosphate Pathway Priya S. Kishnani and Yuan-Tsong Chen PHOSPHOENOLPYRUVATE CARBOXYKINASE (PEPCK) DEFICIENCY PEPCK is a key enzyme in gluconeogenesis. It catalyzes the conversion of oxaloacetate…
. Intraventricular Hemorrhage
Intraventricular Hemorrhage Henrietta S. Bada Neonatal germinal matrix hemorrhage/intraventricular hemorrhage (GMH/IVH) remains a common form of intracranial hemorrhage in preterm infants. It is an important cause of long-term…
. Brain Abnormalities and Injuries
Brain Abnormalities and Injuries Seetha Shankaran and C. Michael Cotton Neonatal encephalopathy is a clinically defined syndrome of disturbed neurological function in the early postnatal days of life…
. Disorders of Ketolysis
Disorders of Ketolysis Stephen I. Goodman Ketolysis involves esterification of acetylaceto-nate (AcAc) to AcAcCoA by succinyl-CoA: 3-oxoacid transferase (SCOT) and involves hydrolysis of AcAcCoA by 3-ketothiolase to form…
. Blastocystis hominis
Blastocystis hominis Maria Jevitz Patterson Continued controversy exists about Blastocystis hominis. Long considered a protozoan of worldwide distribution, most likely an amoeba, this strict anaerobe has been classified…
. Disorders of Energy Metabolism
Disorders of Energy Metabolism Juan M. Pascual and Salvatore DiMauro Surprisingly, the number of energy metabolism disorders compatible with life is still expanding, and their manifestations are reaching…
. Hematologic Abnormalities and Jaundice
Hematologic Abnormalities and Jaundice Henry C. Lee and Ashima Madan RED BLOOD CELL DISORDERS Hematologic problems arise frequently in the newborn period.1 This section is focused on disorders…
. Reproductive Growth and Development in the Male Adolescent
Reproductive Growth and Development in the Male Adolescent David J. Breland and Mark L. Rubinstein TESTIS Testicular growth and maturation are largely influenced by testosterone, which is produced…
