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Biomedical subjects

N C Nevin

Publications and source records attributed to N C Nevin.

At least 37 records · Page 2Linked to original sources
PubMed1999

The epidemiology of myotonic dystrophy in Northern Ireland.

Multiple sources of ascertainment were used to identify families with myotonic dystrophy in Northern Ireland. A total of 59 families with 188 living affected members were identified. The prevalence rate was 119.5 x 10(-6) in a total population of 1.5 million, a rate similar to neighbouring communities. Information about the natural history of the disease in these families enabled analysis of age of onset, fertility, fitness and age at death.

Journal Article↗
PubMed1998

Experience of gene therapy in the United Kingdom.

The UK Committee on the Ethics of Gene Therapy recommended the establishment of a supervisory body with collective expertise, experience, and authority to regulate gene therapy. In November 1993, the supervisory body, known as the Gene Therapy Advisory Committee (GTAC), was established. It interacts with other bodies, including the Medicines Control Agency, local research ethics committees, the Health and Safety Executive, and the Hospital Trust. When proposals for gene therapy are reviewed, there is careful assessment of the scientific merits, the competence of those undertaking the research, and the risks involved. Each proposal is assessed by several independent expert advisors, in specific aspects of the research. The researchers are apprised of the issues raised by the assessors and given the opportunity to modify their proposals. The research team is then given the opportunity to make a brief presentation to the GTAC. The proposals may be approved subject to conditions, deferred until further issues are resolved, or rejected on the basis that the proposal is unethical or the science unsound. Researchers are expected to provide the committee with regular progress reports. This paper discusses the experience of gene regulation in the United Kingdom.

Animals↗
PubMed1998

Ullrich-Turner syndrome: seven pregnancies in an apparent 45,X woman.

A 37-year-old woman was referred for genetic counseling after termination of her probable seventh pregnancy. Ultrasound examination at 13 weeks of gestation had shown a fetus with bilateral cystic hygromas. A transabdominal amniocentesis confirmed 45,X karyotype in the fetus. The patient had marked short stature and a 45,X chromosome constitution in blood lymphocytes. Subsequently she had a hysterectomy and oophorectomy. Tissue of representative sites of the pathological specimen showed a 45,X chromosome constitution. However, molecular analysis of 8 sites from the uterus and ovaries, and of skin fibroblasts with X-chromosome microsatellites showed the presence of only one allele, except for the microsatellite DXS996 which demonstrated 2 alleles (155 bp and 161 bp) in ovarian tissue. The lymphocytes from the mother and her only son demonstrated the same single allele (161 bp). We conclude that molecular analysis of lymphocytes and of tissue is necessary for detecting low-level mosaicism in apparently homogeneous 45,X women.

Adult↗
PubMed1998

Early amniocentesis: effect of removing a reduced volume of amniotic fluid on pregnancy outcome.

In mid-trimester amniocentesis (MTA), 12-15 ml of amniotic fluid is aspirated for cytogenetic analysis. When a similar volume of amniotic fluid is removed by early amniocentesis (EA), it represents a significant proportion of the total amniotic fluid volume in the first trimester. The fluid depletion, which may persist for 7 to 10 days, is considered to impair development of fetal lungs and extremities and, possibly, contribute towards procedure-related congenital abnormalities and miscarriages. By only removing 7 ml of amniotic fluid, we have demonstrated a total miscarriage rate (3.8 per cent) comparable with previous large studies (Table V), a low incidence of respiratory difficulties at birth (2.7 per cent) and a low incidence of fixed flexion deformities (1.6 per cent), at the expense of a small increase in the incidence of culture failure (2.2 per cent).

Abortion, Spontaneous↗
PubMed1998

Evidence for a second genetic locus in Carney complex.

Carney complex (MIM no. 160980) is an autosomal dominant condition of lentiginosis, cutaneous and cardiac myxomas and multiple endocrine neoplasia. A locus for Carney complex has recently been mapped to chromosome 2p16. We have studied two Northern Irish families with this disorder. Linkage analysis was performed on the families using five highly informative dinucleotide repeat markers covering this area. Negative logarithm of the odds scores were obtained for all markers at all recombination fractions. We conclude that Carney complex is genetically as well as clinically heterogeneous.

Breast Neoplasms↗
PubMed1998

Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.

Epidermolytic palmoplantar keratoderma (EPPK, MIM #144200) is an autosomal dominant disorder in which hyperkeratosis confined to the palms and soles is characterized histologically by cytolysis of suprabasal keratinocytes. Mutations in the keratin 9 gene (KRT9), a type 1 keratin expressed exclusively in the suprabasal keratinocytes of palmoplantar epidermis, have previously been demonstrated in this disorder. Here, we have studied four Northern Irish kindreds presenting with EPPK. By direct sequencing of polymerase chain reaction products, heterozygous missense mutations in exon 1 of KRT9 were detected in all the families. These included a novel mutation M156T; as well as M156V in two kindreds; and R162Q in the remaining family. All mutations were confirmed by reverse strand sequencing and restriction enzyme analysis. The point prevalence of EPPK in Northern Ireland was found to be 4.4 per 100,000. To date, all reported EPPK mutations occur in the helix initiation motif at the start of the central coiled-coil rod domain of K9.

Epidermolysis Bullosa↗
PubMed1998

De novo direct duplication 2 (p12-->p21) with paternally inherited pericentric inversion 2p11.2 2q12.2.

We report a 4-year-old girl with a previously undescribed de novo duplication of 2p12->2p21 on the same homologue as a paternally inherited pericentric inversion of region 2p11.2-->2q12.2, resulting in dysmorphic features, cardiac abnormality, cleft palate, respiratory problems, severe growth retardation and developmental delay. This case raises an important question--did the paternal pericentric inversion influence the occurrence of the de novo duplication?

Abnormalities, Multiple↗
PubMed1998

Transplacental early amniocentesis and pregnancy outcome.

The effect on pregnancy outcome of transplacental needle insertion was studied in 401 consecutive women attending for early amniocentesis between 10 and 14 completed weeks of pregnancy. Transplacental early amniocentesis was associated with a significantly higher incidence (P < 0.001) of blood-stained amniotic fluid taps but a lower incidence (not significant; P > 0.05) of pregnancy loss and miscarriages. Women in the nontransplacental early amniocentesis group had a significantly higher (P < 0.01) incidence of late procedure-related antenatal complications, such as preterm rupture of membranes or preterm labour. Our study showed that transplacental early amniocentesis is a safe procedure; contrary to present recommendations, the study also showed that avoiding the placenta during early amniocentesis is an unnecessary practice.

Amniocentesis↗
PubMed1998

Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.

A family exhibiting spontaneous pneumothorax in a father and three offspring (two sons, and one daughter) is described. The mode of inheritance is apparently autosomal dominant with two episodes of male to male transmission in one family. The age of onset varied by up to 13 years within the family. Isolated autosomal dominant pneumothorax appears to be a distinct clinical entity.

Adolescent↗
PubMed1998

Laryngeal atresia or stenosis presenting as second-trimester fetal ascites--diagnosis and pathology in three independent cases.

Congenital atresia of the larynx is a rare abnormality. We describe three cases where prenatal diagnosis during the second trimester showed massive abdominal fetal ascites and at post-mortem, laryngeal atresia was identified in two cases, and severe laryngeal stenosis in the third. All were associated with pulmonary hyperplasia. No additional abnormalities were found in other systems. Overdistended lung tissue and ascites are resultant from aberrant laryngeal growth; laryngeal anomalies are a cause of isolated fetal ascites. The association of ascites and voluminous lungs should arouse suspicion of laryngeal atresia and should be an indication for careful pathological study of the fetal larynx.

Adult↗