Search PubMed⌕ Search

Biomedical subjects

N C Nevin

Publications and source records attributed to N C Nevin.

At least 199 records · Page 11Linked to original sources
PubMed1977

Spondylometaphyseal dysplasia.

A family is described in which the father, son, and daughter have spondylometaphyseal dysplasia, consistent with an autosomal dominant pattern of inheritance. Radiologic changes spanning a period from 4 months to 31 years are described. Platyspondyly and metaphyseal deformity predominate. The severity of the radiologic changes is variable.

Adult↗
PubMed1976

Relation of alpha-1-antitrypsin phenotype to the performance of pulmonary function tests and to the prevalence of respiratory illness in a working population.

Individuals with severe alpha-1-antitrypsin (alpha1AT) deficiency (phenotype Pi ZZ) are abnormally liable to develop emphysema, but it is uncertain whether those with partial alpha1AT deficiency (phenotypes Pi MS and MZ) are similarly susceptible. This study was undertaken to determine the frequency of the various Pi phenotypes in a working population in Northern Ireland and to compare the performance of simple pulmonary function tests and prevalence of respiratory symptoms and chest illness between different phenotypes. The population sample consisted of 1995 working men and women aged between 35 and 70 years. The MRC Questionnaire (1966) was used to assess respiratory symptoms, a forced expiratory spirogram was recorded, and a blood sample was analysed for alpha1AT phenotype by acid starch gel electrophoresis and antigen-antibody crossed electrophoresis in every case. The percentage frequencies of the alpha1AT phenotypes were: Pi MM 86-5; MS 7-97; MZ 3-86; IM 0-6; FM 0-4; SZ 0-25; M 0-15; SS 0-1; Z 0-05; MP 0-05; FS 0-05. Respiratory symptoms and a history of previous chest illness occurred with similar frequency among the Pi M, MS, and MZ phenotypes, and a comparison of the regression coefficients for FEV1, FVC, and MMF on age for each phenotype group showed no significant differences between them overall, or when subdivided according to smoking habits or dust exposure. These findings provide no evidence that individuals of phenotype Pi MS or MZ are more than usually liable to develop chronic airways obstruction.

Adult↗
PubMed1975

Raised alpha-fetoprotein levels in amniotic fluid and maternal serum in a triplet pregnancy in which one fetus had an omphalocoele.

During the second pregnancy of a 31-year-old patient, who already had a child with hydrocephalus, the ultrasonic scan at 16 weeks gestation demonstrated the possiblity of triplets. Raised amniotic fluid and maternal serum alpha-fetoprotein concentrations were observed at 16 and 17 weeks gestation. The pregnancy was terminated at 17 weeks gestation and one of the fetuses had an extensive omphalocoele, radial aplasia and digital abnormalities.

Abnormalities, Multiple↗
PubMed1975

Potato avoidance during pregnancy in women with a previous infant with either anencephaly and/or spina bifida.

This investigation is a direct attempt to test Renwick's (1972) hypothesis that 95% of anencephaly and spina bifida (ASB) is preventable by the avoidance of potatoes during pregnancy. Although the numbers involved in the study are small, the investigation fails to support the concept that short-term avoidance of potatoes before conception and throughout pregnancy in women who have had a previous ASB infant reduces the recurrence risk. In the potato-free group, of 23 pregnancies which went to term two infants had ASB (8-7%); whereas in the non-potato-free group, of 56 which went to term two infants had ASB (3-6%). The recurrence risk in both groups was about 5%. The incidence of ASB in the groups shows no significant difference (P = 0-58) and in the potato-free group was not reduced by 95% as postulated by Renwick.

Age Factors↗
PubMed1975

Aglossia-adactylia syndrome.

Aglossia-adactylia is described in two male patients, aged 31 and 21 years old. Including a previous reported case (Nevin, Dodge, and Kernohan, 1970) there are three patients with this syndrome in Northern Ireland. The aetiology is unknown but in spite of the extreme variability of the clinical manifestation, a dominant mutant gene cannot be ruled out.

Abnormalities, Multiple↗