| endocardial cushion defect | <radiology> Persistence of primitive atrioventricular canal and anomalies of AV valves associated with: Down syndrome: in 25% of Trisomy 21 an ECD is present; in 45% of ECD Trisomy 21 is present, asplenia/polysplenia types: complete (AV canal), partial findings: gooseneck deformity on angiogram, increased pulmonary vascularity, enlarged pulmonary artery, enlarged RV, LV, RA; normal LA (secondary to atrial septal defect) (12 Dec 1998) |
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| enzyme defect | A disorder resulting from a deficiency (or functional abnormality) of an enzyme. In 1902 Archibald Garrod first attributed a disease to an enzyme defect: an inborn error of metabolism. Today, newborns are routinely screened for certain enzyme defects such as PKU (phenylketonuria) and galactosaemia, an error in the handling (metabolism) of the sugar galactose. (12 Dec 1998) |
| fibrous cortical defect | A common 1 to 3 cm defect in the cortex of a bone, most commonly the lower femoral shaft of a child, filled with fibrous tissue. Nonosteogenic or nonossifying fibroma by convention refers to lesions greater than 3 cm in diameter. See: nonossifying fibroma. Synonym: nonosteogenic fibroma. (05 Mar 2000) |
| uterine filling defect | <radiology> Technical, bubble, blood clot, mucoid material, congenital fold, pseudoadhesions / ridging -- folds long axis, neoplasm, submucosal leiomyoma, adenoma, endometrial carcinoma, pregnancy-related, pregnancy, molar pregnancy, retained conceptus, polyp, septated uterus, synechiae, IUD, iatrogenic (post-op) (12 Dec 1998) |
| filling defect | Displacement of contrast medium by a space-occupying lesion in a radiographic study of a contrast-filled hollow viscus, such as a polyp on a barium enema; also applied to defects in the otherwise uniform distribution of radionuclide in an organ, such as a metastasis in the liver on a 99mTc-sulfur colloid scan. (05 Mar 2000) |
| filling defect in renal collecting system | <radiology> Common causes: transitional cell carcinoma, blood clot, lucent calculus (urate) less common causes: fungus ball, sloughed papilla, fibroepithelial polyp, invasion by hypernephroma, malakoplakia, vessel impression, metastases (12 Dec 1998) |
| lambdoid suture defect | <radiology> Well-defined lucent lesion, classically unilateral, associated with neurofibromatosis (12 Dec 1998) |
| luteal phase defect | Inadequate function of the corpus luteum that may prevent a fertilized egg from implanting in the uterus or may lead to early pregnancy loss. (09 Oct 1997) |
| allelic gene | See: allele, dominance of traits. (05 Mar 2000) |
| antibiotic resistance gene | Genes in a microorganism which confer resistance to antibiotics, for example by coding for enzymes which destroy it, by coding for surface proteins which prevent it from entering the microorganism, or by being a mutant form of the antibiotic's target so that it can ignore it. (09 Oct 1997) |
| autosomal gene | A gene located on any chromosome other than the sex chromosomes (X or Y). (05 Mar 2000) |
| bicoid gene | A group of genes which are important to the proper development of the head and thorax in the embryo of the fruit fly Drosophila melanogaster. (09 Oct 1997) |
| BRCA1 breast cancer susceptibility gene | This mutated (changed) version of the BRCA1 gene makes a person susceptible to developing breast cancer. (12 Dec 1998) |
| calcitonin gene-related peptide | <protein> A second product transcribed from the calcitonin gene. Calcitonin gene related peptide is found in a number of tissues including nervous tissue. It is a vasodilator that may participate in the cutaneous triple response. It is a neuropeptide of 37 amino acids with structural homology to salmon calcitonin. Co-localises with substance P in neurons. It occurs as a result of alternative processing of mRNA from the calcitonin gene. The neuropeptide is widely distributed in neural tissue of the brain, gut, perivascular nerves, and other tissue. The peptide produces multiple biological effects and has both circulatory and neurotransmitter modes of action. In particular, it is a potent endogenous vasodilator. Intracerebral administration leads to a rise in noradrenergic sympathetic outflow, a rise in blood pressure and a fall in gastric secretion. Acronym: CGRP (05 May 2002) |
| cancer susceptibility gene | tumour suppressor gene |