Biomedical subjects
Publications and source records attributed to N C Nevin.
We describe the phenotypic characteristics of 25 individuals with oculo-auriculo-vertebral spectrum (OAVS) and its variants, seen in Northern Ireland between 1969-1989, with special reference to cardiovascular defects. We report the type and prevalence of cardiovascular findings and also estimate the minimum prevalence rate of OAVS to be 1 in 45,000.
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We present a 6-year-old mentally retarded girl. Chromosome analysis showed an interstitial deletion of chromosome 8; 46,XX,del(8) (pter----p23.1::p21.3----qter). The proposita had normal activities of glutathione synthetase reductase (GSR) and factor VII. Parental chromosomes were normal.
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We report on the use of DNA marker probes and linkage analysis to exclude Norrie's disease in the male fetus of a high risk carrier. There are no clinical markers in females carrying the Norrie's disease gene; thus DNA linkage analysis is an essential technique in the management of families 'at-risk' for this severe ophthalmic disease. The principles of DNA linkage are discussed.
Epidermolysis bullosa simplex (EBS) is an autosomal dominant disorder characterised by intraepidermal blistering of the skin. Two families with Weber-Cockayne EBS have been analysed for linkage to keratin gene loci. In the first family, linkage was found to chromosome 17 markers flanking the keratin 14 gene (D17S74: Zmax = +2.45, theta = 0.10; COL1A1: Zmax = +0.97, theta = 0.00) and markers near the keratin 5 gene on chromosome 12 were excluded (D12S17: Z less than -2.0, theta = 0.08; COL2A1: Z less than -2.0, theta = 0.13). In contrast, the second family showed linkage to the region containing the keratin 5 gene (D12S17: Zmax = +1.37, theta = 0.08; COL2A1: Zmax = +0.33, theta = 0.15) and was not linked to the keratin 14 gene (D17S74: Z less than -2.0, theta = 0.14). The Weber-Cockayne form of EBS is genetically heterogeneous with linkage to different keratin gene loci.
We report on a 5-year-old boy with moderate mental retardation, horseshoe kidneys, tricuspid valve prolapse, and a characteristic face with broad nasal root, prominent ears, and a cleft palate. These manifestations suggested the diagnosis of the Eastman-Bixler syndrome. Our patient also had an isolated growth hormone deficiency which responded successfully to treatment.
OBJECTIVE: To determine the effectiveness of clinical examination, chest radiography, and electrocardiography compared with echocardiography in detecting congenital heart disease early in the life of children with Down's syndrome. DESIGN: Prospective two year screening survey. SETTING: Regional paediatric cardiology service, Northern Ireland. PATIENTS: 81 newborn infants with Down's syndrome born in Northern Ireland between November 1987 and November 1989. INTERVENTIONS: Clinical examination, chest radiography, and electrocardiography soon after birth followed by cross sectional Doppler echocardiography. MAIN OUTCOME MEASURES: Diagnostic ability of clinical examination, radiography, and electrocardiography compared with echocardiographic findings. RESULTS: 34 babies had congenital heart disease detected by echocardiography (13 had atrioventricular septal defects, seven secundum atrial septal defects, six a solitary patent ductus arteriosus, five isolated ventricular septal defects, and three combinations of heart defects). Individual examination methods were insensitive (the sensitivity of clinical examination was 0.53, of radiography 0.44, and of electrocardiography 0.41) but highly specific (the specificity of clinical examination was 0.94, of radiography 0.98, and of electrocardiography 1.0), although sensitivity improved when the three techniques were combined (the sensitivity was 0.71, the specificity 0.91). CONCLUSION: Echocardiography performed early in life can detect congenital heart disease that might otherwise be missed. Early detection may help prevent complications such as pulmonary vascular disease that may adversely affect the outcome of cardiac surgery.
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A Northern Ireland family is reported on, in which there is X-linked inheritance of clinical anophthalmos. Multi-point linkage analysis suggests that the gene is localized to the Xq27-28 region (Z = 1.9, Theta = 0.08), though not between the DNA markers DX13 and Factor VIII.
Gene probe analysis of the MEN 2A locus on chromosome 10 has been undertaken using the markers TB10.163, RBP 3 and TB14.34 in a large kindred with familial medullary thyroid carcinomas, with or without phaeochromocytomas or primary hyperparathyroidism. A maximum LOD score of 2.97 gave strong evidence of close linkage with zero recombination. For 12 members of the family so far not known to be affected by any form of the disease the estimated risk of carrying the gene has been considerably decreased in all but one, whose risk has been greatly increased.
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