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This is a shortened version of the fifteenth chapter of the ICD-9: Certain Conditions originating in the Perinatal Period. It covers ICD codes 760 to 779. The full chapter can be found on pages 439 to 453 of Volume 1, which contains all (sub)categories of the ICD-9. Volume 2 is an alphabetical index of Volume 1.
The D-bifunctional protein is composed of three enzymatic domains: the N-terminal short chain alcohol dehydrogenase reductase (SDR), central hydratase domain, and the C-terminal sterol carrier protein 2 (SDR).
Glutaric acidemia type 2 is an autosomal recessive metabolic disorder that is characterised by defects in the ability of the body to use proteins and fats for energy. Incompletely processed proteins and fats can build up, leading to a dangerous chemical imbalance called acidosis .
Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs.
CVS usually takes place at 10–12 weeks' gestation, earlier than amniocentesis or percutaneous umbilical cord blood sampling. It is the preferred technique before 15 weeks. [2] CVS was performed for the first time in Milan by Italian biologist Giuseppe Simoni, scientific director of Biocell Center, in 1983. [3]
Intrauterine growth restriction (IUGR), or fetal growth restriction, is the poor growth of a fetus while in the womb during pregnancy.IUGR is defined by clinical features of malnutrition and evidence of reduced growth regardless of an infant's birth weight percentile. [5]
Omenn syndrome is an autosomal recessive severe combined immunodeficiency. [1] It is associated with hypomorphic missense mutations in immunologically relevant genes of T-cells (and B-cells) such as recombination activating genes (RAG1 and RAG2), Interleukin-7 receptor-α (IL7Rα), DCLRE1C-Artemis, RMRP-CHH, DNA-Ligase IV, common gamma chain, WHN-FOXN1, ZAP-70 and complete DiGeorge syndrome.
Thrombocytopenia affects approximately 7–10% of pregnant women and of the 7–10%, within that population; approximately 70–80% have gestational thrombocytopenia [3] Gestational thrombocytopenia is a disorder similar to immune thrombocytopenia (ITP) and is difficult to differentiate between the two disorders. [2]