(a.) Born in or with; implanted by nature; innate; as, inborn passions.
(1) This is an inborn error of the mitochondrial beta-oxidation of fatty acids.
(2) Fibroblasts cultured from the skin of a patient with metachromatic leukodystrophy have been found to manifest the biochemical defect of this inborn error of metabolism, a deficiency of arylsulfatase A. Diseased cells had less than five per cent of normal arylsulfatase-A activity, while activities of other lysosomal enzymes-including arylsulfatase B, beta-galactosidase, beta-glucuronidase, and beta-N-acetylglucosaminidase-were comparable to those in control cells.
(3) Defects in this enzyme are responsible for one of the most common inborn errors of metabolism in humans.
(4) The current major indications for prenatal diagnosis are Down's syndrome (Trisomy 21), numerous rare inborn errors of metabolism, and neural tube closure defects.
(5) The authors discuss the problem of administration and amount of fluids and electrolytes in neonates after operations of inborn developmental defects and during the postoperative period.
(6) Hurler syndrome, a lethal inborn error of lysosomal metabolism, results from the systemic accumulation of glycosaminoglycan.
(7) Prognosis of this "inborn error of metabolism" is not favorable due to calcium-oxalate depositions in kidney and other organs.
(8) Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a common inborn error of mitochondrial fatty acid oxidation.
(9) The child was also shown to be a genetic carrier for ornithine transcarbamylase deficiency, an x-linked inborn error of urea cycle metabolism.
(10) These patients appear to have deleterious inborn enzymatic abnormalities of a type originally postulated by Garrod.
(11) The surgery also impaired the corrective movements, especially if their direction was opposite to the inborn unconditioned reaction.
(12) It appears that most patients with well recognized disorders are not being diagnosed, and it is our conviction that there are new, as yet unidentified, inborn errors of metabolism in this population of patients.
(13) Inborn and learned ability to detect mild, nonpainful distension of the sygmoid colon was examined in 22 patients who underwent colonostomy one year or more before the investigation.
(14) And so we consider psoriasis to be an inborn fault in the metabolism of epidermal and other cells, which is only provoked by secondary influences (drugs, allergic reactions, local traumas).
(15) The hypothesis is advanced that both phenomena represent inborn dialectical logical instruments of evolution-like human identity creation and maintenance.
(16) Jack Ashley provided the political language and the inborn fighting skill, but she would labour to help him find the killer facts.
(17) We want to modify the albino definition as a hereditary and congenital inborn error of metabolism related to the pigment cell, and resulting in a systemic disorder that is characterized by anomalies of eyes, and hypopigmentation in most cases or absence of pigment in skin, hair, and eyes, and of which the neuro-anatomical consequences are the most characteristic.
(18) In a 5-year period, 476 consecutive live and inborn neonates weighing less than or equal to 1000 gm were studied.
(19) We believe that it is particularly suitable for the rapid and acute diagnosis of inborn errors of metabolism, especially the organic acidurias, and for acute pediatric clinical care, when rapid monitoring of major metabolic alterations is required in a time scale suitable to influence directly and immediately the therapy of the patients concerned.
(20) Serum levels of 7 alpha-hydroxycholesterol, 7 beta-hydroxycholesterol and 26-hydroxycholesterol were determined in several groups of patients: normals, untreated patients suffering from cerebrotendinous xanthomatosis, patients suffering from cerebrotendinous xanthomatosis and treated with either chenodeoxycholic acid or cholic acid in an effective dose, patients suffering from cerebro-hepato-renal syndrome, patients suffering from hypercholesterolemia and treated with cholestyramine for prolonged periods and one patient presumed to be suffering from an inborn error of metabolism in bile acid synthesis.
(imp. & p. p.) of Inherit
(1) Alleles in this region can be exchanged between X and Y chromosomes and are therefore inherited as if autosomal.
(2) Seven males have been observed carrying both inherited tritan and red-green defects.
(3) Pedigree studies have suggested that there may be an inherited predisposition to many apparently nonfamilial colorectal cancers and a genetic model of tumorigenesis in common colorectal cancer has been proposed that includes the activation of dominantly acting oncogenes and the inactivation of growth suppressor genes.
(4) In neither case has a significant elevation in inherited genetic effects or cancer been detected in the offspring of exposed individuals.
(5) When power-transformed scores are used to eliminate skewness, there is evidence for one distribution and it is not possible to distinguish single gene from multifactorial (polygenic or cultural) inheritance.
(6) Asymptomatic relatives that have inherited the disease probably can be detected with this method.
(7) This recently reported inherited syndrome should be recognized by pathologists because of major risk of cardiac myxoma.
(8) This situation highlights the potential importance of molecules with different inheritance patterns in elucidating complex cases of reticulate evolution.
(9) Approximately 20 inherited disorders of kidney transport occurring in man have so far been defined.
(10) Neurospora crassa mitochondrial deoxyribonucleic acid shows strict uniparental inheritance in sexual crosses, with a notable absence of mixtures and recombinant types that appear frequently in heteroplasmons.
(11) The overall results indicate an inherited impairment of 3-HSD activity confined only to C-21 steroid substrates and, thus, suggest the existence of at least two 3-HSD isoenzymes under independent genetic regulation.
(12) About one out of three profoundly deaf children has an autosomal recessive form of inherited deafness.
(13) In considering nutrition and circadian rhythms, time-of-eating behavior is an inherited, genetically controlled pattern that can be phase-shifted by conditioning or training.
(14) Given the financial crisis this government inherited, we had no choice but to make significant savings.
(15) The pupils at the Royal Blind School, Edinburgh, were surveyed and it was found that 40% of the 100 pupils had definitely inherited severe eye disease.
(16) However, as the males have not reproduced, it is not possible to rule out X-linked dominant inheritance.
(17) However, family members born at 50% risk can find out if they have inherited the mutant gene only if family analyses are possible.
(18) Proposed models for the inheritance of locus-specific methylation phenotypes in somatic cells include those in which there is stable inheritance of a methylation pattern such that all cells contain a similarly methylated locus, as well as models in which the inheritance of methylation can be variable.
(19) It inherited an economy that was growing quite strongly but activity came to an abrupt halt last autumn and has flatlined ever since.
(20) An autosomal recessive mode of inheritance of this deficiency was found.