Search PubMed⌕ Search

Biomedical subjects

N C Nevin

Publications and source records attributed to N C Nevin.

At least 181 records · Page 10Linked to original sources
PubMed1980

Ankyloglossum superius syndrome.

The case of a male infant with the ankyloglossum superius syndrome is documented. In addition to oromandibular and limb malformations, the patient had extensive jejunal and ileal atresia. The cause of this syndrome remains unknown, but both genetic and intrauterine environmental factors have been suggested. There was no family history of other affected relatives, but throughout her pregnancy the mother had received imipramine, diazepam, chlorpromazine, and meclizine.

Abnormalities, Multiple↗
PubMed1980

Idiopathic intestinal pseudo-obstruction: a familial visceral neuropathy.

Four individuals with idiopathic intestinal pseudo-obstruction (IIP), a familial visceral neuropathy with autosomal dominant inheritance, are presented. The disorder is characterised by abdominal colic, abdominal distension and diarrhoea, and is of a progressive nature with relapses and remissions. The main feature is a disturbance of motility in the affected intestine, with histological evidence of a neuronal disorder, characterised by hyperplasia and eventual atrophy. Management of the condition is difficult; initially, treatment should be conservative by nasogastric suction with intravenous nutrition. When laparotomy is undertaken to exclude mechanical obstruction, resection of the intestine is inadvisable, and ileo-colic anastomosis may be beneficial.

Adult↗
PubMed1980

Risk of recurrence after two children with central nervous system malformations in an area of high incidence.

This study was undertaken to provide an estimate of the recurrence risk of central nervous system (CNS) malformation in families with two or more affected children. The hospital records and the records of the Genetic Counseling Clinics were examined for instances where a child born between 1962 to 1973 had spina bifida and anencephalus and was documented as having an affected elder sib; such children were taken as index patients. Parents of 76 families with 89 index patients were interviewed. Fifty-one index patients had younger sibs; of 85 younger sibs, 12 had spina bifida and six anencephalus (1 in 4.7). Little variation was observed in the proportion of subsequent children affected with the type of lesion in the index patient and the affected older sib. Ten index patients with two older affected sibs had 14 subsequent sibs of whom four had a CNS malformation (1 in 3.5). For the purpose of genetic counselling it was suggested that the risk after two and three children with CNS malformations in Northern Ireland was 1 in 5 and 1 in 4, respectively.

Anencephaly↗
PubMed1980

A family study of spina bifida and anencephalus in Belfast, Northern Ireland (1964 to 1968).

The parents of 226 of the 360 patients with anencephalus or spinal bifida or both, born in Belfast 1964 to 1968, were visited to document the occurrence of these malformations among other relatives. The proportions of sibs with anencephalus and spina bifida were 10.41% for spina bifida index patients and 6.4% for anencephalus. For patients born after the index patients, the proportions were 12.19% and 6.35%, respectively. The overall incidence of either malformation among sibs was 8.87%. This estimate is higher than the 4 to 5% commonly reported and is probably related to the specific background of the Northern Ireland population, which is known to have the highest incidence of CNS malformations in the United Kingdom. The substantial size of this risk indicates the importance of amniocentesis for monitoring subsequent pregnancies of women who have had one child with a CNS malformation.

Anencephaly↗
PubMed1979

Comparison of central nervous system malformations in spontaneous absortions in Northern Ireland and south-east England.

A study of 1140 pregnancies ending in spontaneous abortion disclosed a central nervous system (CNS) malformation in 4.9% of all complete conceptuses. Life-table analysis suggested that the incidence of CNS malformations is 16/1000 at the beginning of the eighth week of gestation. It was also estimated that only one-fifth of these infants are born alive, 41% being aborted spontaneously and 38% stillborn. A hypothesis that differences in the incidence of CNS malformations result from area differences in the mortality rate of malformed embryos and fetuses was examined by comparing the findings in Northern Ireland, an area of high incidence, with those in south-east England, an area of low incidence. In Northern Ireland 4.6% of complete conceptuses had a CNS malformation compared with 3.0% in south-east England, but the difference was not statistically significant. There is no evidence that in Northern Ireland a lower mortality rate among malformed fetuses and embryos is responsible for the high incidence of malformation at birth. The geographical variation of CNS malformations in the United Kingdom still awaits explanation.

Abortion, Spontaneous↗
PubMed1979

Prenatal diagnosis of the Meckel syndrome.

Prenatal diagnosis of the Meckel syndrome was made at 20 weeks of gestation from the findings of a biparietal diameter smaller than expected for gestational age, a grossly raised amniotic fluid alphafetoprotein level and a rapid growth of foetal macrophages after 20 hours culture. Termination at 23 weeks of gestation resulted in a male foetus with an occipital encephalocele, microcephaly, polydactyly, and bilateral polycystic kidneys. This case report emphasies the importance for genetic counselling of delineating the Meckel syndrome from the multifactorial cases of neural tube defects, and also illustrates, at least in some cases, that the syndrome can be diagnosed in utero.

Abnormalities, Multiple↗
PubMed1979

Cystic fibrosis in Northern Ireland.

In a retrospective study of cystic fibrosis in Northern Ireland for 1961 to 1971, the incidence was 1 in 1857 livebirths, which is comparable to figures from Great Britain and the Republic of Ireland.

Cystic Fibrosis↗
PubMed1979

Trisomy 20 mosaicism in amniotic fluid cell culture.

Chromosomal mosaicism in cultured amniotic fluid cells presents one of the most difficult problems in prenatal diagnosis in predicting the foetal phenotype. We present a case in which trisomy 20 mosaicism was diagnosed prenatally but not confirmed in the aborted foetus.

Abortion, Induced↗
PubMed1978

Achondrogenesis.

Explore the source record for details and available documents.

Dwarfism↗
PubMed1978

A comparison of neural tube defects identified by two independent routine recording systems for congenital malformations in Northern Ireland.

The efficiency of two systems for recording congenital malformations has been compared; one system, the Registrar General's Congenital Malformation Notification, is based on registering all malformed infants, and the other, the Child Health System, records all births. In Northern Ireland for three years [1974--1976], using multiple sources of ascertainment, a total of 686 infants with neural tube defects was identified among 79 783 live and stillbirths. The incidence for all neural tube defects in 8 60 per 1 000 births. The Registrar General's Congenital Malformation Notification System identified 83.6% whereas the Child Health System identified only 63.3% of all neural tube defects. Both systems together identified 86.2% of all neural tube defects. The two systems are suitable for monitoring of malformations and the addition of information from the Genetic Counselling Clinics would enhance the data for epidemiological studies.

Humans↗
PubMed1978

Hypochondroplasia.

Clinical, radiological, and genetic features are described in 3 patients with hypochondroplasia. Early recognition of this disorder is possible from the abnormal body proportions with short limbs and lumbar lordosis without facial stigmata of achondroplasia. Radiological confirmation is possible provided a full skeletal survey is made. Two of our patients had a large head.

Cartilage Diseases↗
PubMed1978

Raised alpha-fetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder caused by absence of urethra.

Raised alpha-fetoprotein concentrations were found at 29 and 30 weeks' gestation in the amniotic fluid and maternal serum of a woman who presented in her seventh pregnancy with apparent polyhydramnios. The fetus had multiple abnormalities including gross distension of the bladder resulting from absence of the urethra, intestinal artresia, and a congenital heart defect.

Abnormalities, Multiple↗
PubMed1978

Cytogenetic analysis on children born of parents treated with immunosuppressive drugs.

Two women previously treated with cyclophosphamide had five pregnancies, resulting in seven normal offspring, including two sets of twins. All the babies had normal chromosome constitution and there was no significant chromosome damage. Apart from the twin pregnancies, which were induced, the pregnancies continued to full term and the birth weights were good. Men with renal transplants receiving azathioprine and prednisolone fathered 13 pregnancies, resulting in 11 offspring; one was a mongol; there were two spontaneous abortions, including a twin pregnancy. With the exception of the mongol, the babies had normal chromosome constitution and there was no significant chromosome damage. Two women with renal transplants receiving azathioprine and prednisolone have had four pregnancies, two ended in spontaneous abortion and two continue.

Azathioprine↗
PubMed1977

Hereditary deafness associated with branchial fistulae and external ear malformations.

Two families are presented in which affected members had deafness, preauricular sinuses, branchial fistulae and malformation of the external ear. In Family I, a renal abnormality was an associated feature. In Family 2, two individuals had an abnormality of the incudostapedial joint. In both families inheritance was autosomal dominant with variable expressivity. The occurrence of external-ear malformations, branchial fistulae, and preauricular sinuses should indicate the need to search for a hearing loss not only in the patient but amongst relatives.

Abnormalities, Multiple↗