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G J te Meerman

Publications and source records attributed to G J te Meerman.

63 records · Page 4Linked to original sources
PubMed1987

Effect of screening for cystic fibrosis on the influence of genetic counseling.

We studied the influence of genetic counseling for cystic fibrosis on family planning, using neonatal screening, family size at time of diagnosis, and maternal age as possible determinants for reproductive behaviour. The expected number of children born to mothers of equal age and parity in the same period was approximated on the basis of population statistics. These numbers were compared to the numbers of children born in the study group after a CF diagnosis and information on the 25% recurrence risk were given. A 50.8% reduction in childbirth was found in the study group, although 77% of families had decided against further high-risk pregnancies. No statistically significant influence of neonatal screening could be demonstrated, but this may be due to the small number of families involved.

Adult↗
PubMed1987

Screening for cystic fibrosis. A comparative study.

A neonatal screening program for CF by determination of albumin in meconium was performed in the north eastern part of the Netherlands from 1973 to 1979. In this period 94,043 newborns were screened and 116,953 were not. A follow-up study of CF patients in the above cohorts was started in 1980. The purposes of this study were to evaluate the effects of early diagnosis and treatment in CF patients by comparing the outcome in the two groups of patients. Although the results indicate that very early diagnosis and treatment have a beneficial effect on outcome, more studies are needed before a definite answer can be given as to whether or not mass neonatal screening should be started.

Albumins↗
PubMed1987

Family distances and human lymphocyte antigens.

We compared family distances of homozygotes and heterozygotes for HLA-A and -B. When matched on number of inhabitants per birthplace, no significant differences were found. However, when homozygotes were compared with heterozygotes from larger birthplaces, homozygotes showed significantly smaller family distances in the grandparental generation. We suggest that matching for population size of birthplace and the choice of the geographic study area are important factors in studies of family distances.

Gene Frequency↗
PubMed1986

On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms.

The power to detect departures from the theoretical proportion of new mutants in X-linked lethal disorders has been analyzed for several types of segregation analysis, including methods based on completely linked restriction fragment length polymorphisms. It is shown that all methods require large sample sizes in order to detect even large differences between male and female mutation rates. Ascertainment bias is shown to have a great effect on the outcome of the segregation analysis. All reviewed studies concerning the proportion of new mutants in Duchenne muscular dystrophy, whether they claimed equality or inequality between the male and female mutation rates, give insufficient evidence because of ascertainment bias and a too low power. An ascertainment bias-free method is given, with the advantage that information from many studies can be combined. By doing so, in the long run, even moderate departures from equality in mutation rates (if present) can be detected.

DNA Restriction Enzymes↗
PubMed1985

A comparison of the Shwachman, Chrispin-Norman and Brasfield methods for scoring of chest radiographs of patients with cystic fibrosis.

Three systems are described for chest radiograph scoring in cystic fibrosis patients: the Shwachman-Kulczycki, the Chrispin-Norman and the Brasfield method. Sixty chest radiographs of 39 patients of different ages have been independently scored by two radiologists according to the three methods. No statistical differences between the methods could be demonstrated. The Chrispin-Norman method is recommended as the best choice because differences in scoring appeared better interpretable. A significant increase in precision could be achieved by combining the scores of the three methods.

Child↗
PubMed1985

Decreased scattering coefficient of blue sclerae.

The optical scattering properties of blue and normal sclerae were studied with a fiber optic scattering monitor. The scattering was clearly reduced in two osteogenesis imperfecta patients with blue sclerae, and low normal in one osteogenesis imperfecta patient without blue sclerae.

Adult↗
PubMedDate not supplied

Association with HLA class I in Epstein-Barr-virus-positive and with HLA class III in Epstein-Barr-virus-negative Hodgkin's lymphoma.

BACKGROUND: Associations of Hodgkin's lymphoma with HLA have been reported for many years. In 20-40% of patients with this disorder, Epstein-Barr virus (EBV) is present in the neoplastic cells. Because presentation of EBV antigenic peptides can elicit vigorous immune responses, we investigated associations of the HLA region with EBV-positive and EBV-negative Hodgkin's lymphoma. METHODS: In a retrospective, population-based study, patients with Hodgkin's lymphoma were reclassified according to the WHO classification, and EBV status was assessed by in-situ hybridisation of EBV-encoded small RNAs. Germline DNA was isolated from 200 patients diagnosed between 1987 and 2000 and from their first-degree relatives. Genotyping was done with 33 microsatellite markers spanning the entire HLA region and two single-nucleotide polymorphisms in the genes for tumour necrosis factor alpha and beta. Classic association analysis and the haplotype sharing statistic were used to compare patients with controls. FINDINGS: Classic association analysis (but not the haplotype sharing statistic) showed an association of consecutive markers D6S265 and D6S510 (p=0.0002 and 0.0003), located in the HLA class I region, with EBV-positive lymphomas. The haplotype sharing statistic (but not classic association analysis) showed a significant difference in mean haplotype sharing between patients and controls surrounding marker D6S273 (p=0.00003), located in HLA class III. INTERPRETATION: Areas within the HLA class I and class III regions are associated with susceptibility to Hodgkin's lymphoma, the association with class I being specific for EBV-positive disease. This finding strongly suggests that antigenic presentation of EBV-derived peptides is involved in the pathogenesis of EBV-involved Hodgkin's lymphoma. RELEVANCE TO PRACTICE: Polymorphisms in the HLA region could explain ethnic variation in the incidence of Hodgkin's lymphoma. The association of EBV-positive Hodgkin's lymphoma with HLA class I suggests that this polymorphism might affect the proper presentation of EBV antigens to cytotoxic T lymphocytes.

Adolescent↗