Numerous diagnoses have been evaluated for the possibility of fetal intervention ( Tables 116.1 and 116.2 ). Some have proved beneficial to the developing infant, some have been abandoned, and some are still under investigation. Table 116.1 Fetal Diagnoses Evaluated…
The major emphasis in fetal medicine involves (1) assessment of fetal growth and maturity, (2) evaluation of fetal well-being or distress, (3) assessment of the effects of maternal disease on the fetus, (4) evaluation of the effects of drugs administered…
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See also Chapter 21 . Although the neonatal period is a highly vulnerable time as infants complete the many physiologic adjustments required for extrauterine existence, this transition is uneventful for most full-term infants. Management of the newborn should focus on…
Infant Mortality The infant mortality rate is a metric used by public health agencies, policymakers, and governments to gauge the overall quality of pediatric and population health among a given population residing within geographically defined boundaries. The rate is stated…
Glucose has a central role in fuel economy and is a source of energy storage in the form of glycogen, fat, and protein (see Chapter 105 ). As an immediate source of energy, glucose provides 38 mol of adenosine triphosphate (ATP)…
Porphyrias are metabolic diseases resulting from altered activities of specific enzymes of the heme biosynthetic pathway. These enzymes are most active in bone marrow and liver. Erythropoietic porphyrias , in which overproduction of heme pathway intermediates occurs primarily in bone…
Hutchinson-Gilford progeria syndrome (HGPS), or progeria, is a rare, fatal, autosomal dominant segmental premature aging disease. With an estimated incidence of 1 in 4 million live births and prevalence of 1 in 20 million living individuals, there are an estimated…
The inherited disorders of purine and pyrimidine metabolism cover a broad spectrum of illnesses with various presentations. These include hyperuricemia, acute renal failure, renal stones, gout, unexplained neurologic deficits (seizures, muscle weakness, choreoathetoid and dystonic movements), intellectual and developmental disabilities,…
Mucopolysaccharidoses are hereditary, progressive diseases caused by mutations of genes coding for lysosomal enzymes needed to degrade glycosaminoglycans (acid mucopolysaccharides). Glycosaminoglycans (GAGs) are long-chain complex carbohydrates composed of uronic acids, amino sugars, and neutral sugars. The major GAGs are chondroitin-4-sulfate,…