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N V Holm

Publications and source records attributed to N V Holm.

At least 37 records · Page 2Linked to original sources

Cord blood immunoglobulin E in like-sexed monozygotic and dizygotic twins.

Genetic and environmental factors have been implicated in the etiology of atopy and of serum IgE levels. In order to eliminate post-natal environmental influences we measured IgE in cord blood (CB-IgE) from a cohort of unselected, like-sexed twins. IgE determination was performed with a sensitive radioimmunoassay with a detection limit of 0.01 kU/l. Samples with contamination by maternal blood were identified by IgA determination and excluded. CB-IgE was evaluated in 29 monozygotic (MZ) and 28 dizygotic (DZ) twin pairs. The means and variances for IgE values were comparable for MZ and DZ twins when sex was controlled for. Placental anatomy (MZ twins with mono- and dichorial placenta and DZ twins with one or two placentae) had no significant influence on the IgE levels. In an analysis of variance with sub-sampling the among-pair, within-pair and analytical variance components were calculated. The analytical variance was well below the biological variances. Biometrical analysis showed that the best model by Akaike Information Criteria was a model including only additive genetic and non-shared environmental factors. With this model the heritability estimate was 0.8. These data suggest that the majority of the variation in CB-IgE is accounted for by genetic factors, but a substantial effect of a common environment cannot be excluded with the present sample size.

Cohort Studies↗

The Danish Twin Register.

BACKGROUND: Population based twin registers represent a valuable tool for genetic epidemiological research, since twin studies aim at separating the effect of genes and environment for complex traits. The Danish Twin Register's history, size, ascertainment and completeness of data, as well as data accessibility and availability are described. RESULTS: The Danish Twin Register comprises 14,051 twin pairs born 1870-1930, representing all twins surviving to age six years, and 20,888 twin pairs born 1953-1982, representing 75% of those born 1953-1967 and 95% of those born 1968-1982. The birth cohorts 1931-1952 og 1983-1993 are being ascertained at the moment. The register is available for research given certain conditions are fulfilled. CONCLUSION: This register will in a few years be the most comprehensive twin register in the world. It is a very valuable Danish research resource.

Child↗

Mortality among twins after age 6: fetal origins hypothesis versus twin method.

OBJECTIVE: To test the validity of the fetal origins hypothesis and the classic twin method. DESIGN: Follow up study of pairs of same sex twins in which both twins survived to age 6. SETTING: Denmark. SUBJECTS: 8495 twin individuals born 1870-1900, followed through to 31 December 1991. MAIN OUTCOME MEASURES: Mortality calculated on a cohort basis. RESULTS: Mortality among twins and the general population was not significantly different except among females aged 60-89, in whom mortality among twins was 1.14 times (SE 0.03) higher than in the general population. Mortality among female dizygotic twins was 1.77 times (0.18) higher than among monozygotic twins at age 30-59. Otherwise, mortality for monozygotic and dizygotic twins did not consistently differ after age 6. CONCLUSION: According to the fetal origins hypothesis the risk of adult morbidity and mortality is heightened by retardation in intrauterine growth. Twins, and in particular monozygotic twins, experience growth retardation in utero. The findings in the present study suggest that the fetal origins hypothesis is not true for the retardation in intrauterine growth experienced by twins. Furthermore, the data are inconsistent with the underlying assumption of a recent claim that the classic twin method is invalid for studies of adult diseases. The present study is, however, based on the one third of all pairs of twins in which both twins survived to age 6. The possible impact of this selection can be evaluated in future studies of cohorts of younger twins with lower perinatal and infant mortality.

Adolescent↗

[Study of the Danish Malformation Registry for the incidence of cleft lip and palate during 1983-1987].

The Danish Register of Congenital Malformations at the National Board of Health is used for surveillance and research. More than 10% of all patients registered have oral cleft diagnoses. This report evaluates the completeness of the Register of Congenital Malformations as regards registration of oral cleft patients born in Denmark in the period 1983-1987. The register is limited to congenital anomalies diagnosed in hospitals in the child's first year of life. The investigation shows, that the register is suitable for surveillance of clefts, because the completeness of registration was constant during the five-year period 1983-1987. The completeness was more than 90% of all known cases, and probably higher for severe clefts and cases with associated anomalies. Identical diagnosis was found in 93% of all patients registered in The Register of Congenital Malformations with at least one other source of ascertainment. In addition, the investigation disclosed misclassification of a small oral-cleft-subgroup and the need for an additional diagnosis in the coding. The register can only be used for surveillance and research in congenital anomalies, which are usually diagnosed in the child's first year of life.

Cleft Lip↗

A population survey of retinitis pigmentosa and allied disorders in Denmark. Completeness of registration and quality of data.

The aim of this study was a complete survey of all patients in Denmark with a diagnosis of retinitis pigmentosa. The study was performed during the period 1986-1989 and included all persons living in Denmark from 1850 to 1989. We describe the methods of registration from medical and non-medical sources, based on defined criteria. The inclusion criteria were fulfilled by 1890 persons, 1056 males and 834 females. Evaluation of this 'Danish Retinitis Pigmentosa Register' demonstrates an overall completeness of about 80%, increasing from 40% for birth cohorts before 1911 to 90% for patients born since 1981. Concerning diagnostic confidence, 73% of the probands were characterized as certain, 16% as probable, and 11% as possible. Non-systemic cases comprised 61% of all probands and 31% had systemic disease, the rest being unclassified with respect to systemic involvement. The material is considered very suitable for epidemiological treatment and continuous clinical and genetic investigations.

Adolescent↗

Prevalence of retinitis pigmentosa and allied disorders in Denmark. I Main results.

In a nation-wide study we utilized all available sources to characterize the prevalence rates of retinitis pigmentosa. 1301 persons, 715 males and 586 females, were identified, with a diagnosis of retinitis pigmentosa or some other tapetoretinal dystrophy, and living in Denmark per January 1, 1988. The corresponding completeness corrected prevalence rate of retinitis pigmentosa was 1:3026. All cases were classified as 'certain', 'probable', or 'possible'. The age specific prevalence rates increased until 40-50 years, reaching a level of 35-40 male cases per 100,000 and 25-30 female cases per 100,000. Age specific prevalence rates were standardized to the WHO World Standard Population and compared to rates reported from Britain and The United States. World standardized prevalence rate for males was 25.29 per 100,000 and for females 19.31 per 100,000. The preponderance of males was highly statistically significant, (P less than 0.01).

Adolescent↗

Selection bias in genetic-epidemiological studies of cleft lip and palate.

The possible impact of selection bias in genetic and epidemiological studies of cleft lip and palate was studied, using three nationwide ascertainment sources and an autopsy study in a 10% sample of the Danish population. A total of 670 cases were identified. Two national record systems, when used together, were found suitable for ascertaining facial cleft in live births. More than 95% ascertainment was obtained by means of surgical files for cleft lip (with or without cleft palate) without associated malformations/syndromes. However, surgical files could be a poor source for studying isolated cleft palate (CP) (only a 60% and biased ascertainment), and they cannot be used to study the prevalence of associated malformations or syndromes in facial cleft cases. The male:female ratio was 0.88 in surgically treated cases of CP and was 1.5 in nonoperated CP cases, making the overall sex ratio for CP 1.1 (95% confidence limits 0.86-1.4) The sex ratio for CP without associated malformation was 1.1 (95% confidence limits 0.84-1.6). One of the major test criteria in CP multifactorial threshold models (higher CP liability among male CP relatives) must be reconsidered, if other investigations confirm that a CP sex-ratio reversal to male predominance occurs when high ascertainment is achieved.

Cleft Lip↗

Zygosity, placental membranes and Weinberg's rule in a Danish consecutive twin series.

The usual assumption that monochorionic twins are monozygotic has recently been questioned, based on blood group discordance in 3 of 12 monochorionic pairs. Therefore, this study evaluates the validity of zygosity diagnosis based on examination of placental membranes, and at the same time evaluates Weinberg's differential rule in a Danish consecutive twin series. All twin pairs, 265 like-sexed and 87 unlike-sexed pairs, born at Odense University Hospital, Denmark, from 1 January 1980 through 31 August 1988, were ascertained. In 229 like-sexed pairs, zygosity was determined by serological methods, and in 190 of these, the fetal membranes could be reliably classified. Fifty-nine monochorionic twin pairs were identified and none of those pairs were discordant for any genetic markers. Therefore, we conclude that monochorionic twins can be considered monozygotic. The distribution of monozygotic and dizygotic pairs was in accordance with Weinberg's rule.

Female↗

Papillary thyroid carcinoma in Danish patients with familial adenomatous polyposis.

All patients from the nationwide Danish Polyposis Register have been followed up with regard to thyroid carcinoma. During the period 1943-1985, 2/107 Danish women and 0/138 men developed papillary thyroid carcinoma after the diagnosis of familial adenomatous polyposis. The expected number among females was 0.02 resulting in a observed/expected ratio of 100 (95% confidence limits 12-361). Consequently, thyroid carcinoma should be included among the extracolonic lesions, which may develop in any female polyposis patient. However, regular thyroid examination is not indicated, as thyroid carcinoma is uncommon and as the prognosis is excellent.

Adenomatous Polyposis Coli↗

Mogens Hauge.

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Denmark↗

Increased in vitro tetraploidy and mandibular osteomas in patients with and without colorectal diseases.

One hundred and seventy-six individuals with various colorectal diseases were investigated simultaneously for increased in vitro tetraploidy in dermal fibroblast cultures and for occult mandibular osteomas. In only 10 of the 176 persons were both presumed markers of colorectal genetic predisposition present in the same individual. No evidence was found that these traits are causally associated. A combination of the two presumed markers showed a tendency towards occurrence in individuals with a positive family history of colorectal cancer among first-degree relatives.

Adolescent↗

Influence of adjuvant irradiation on the development of late arm lymphedema and impaired shoulder mobility after mastectomy for carcinoma of the breast.

The influence of postoperative radiation therapy on development of late arm lymphedema and shoulder joint disability following mastectomy was evaluated from a series of 57 women with operable carcinoma of the breast. The patients were divided into three groups. Common for all three groups was mastectomy and partial axillary dissection. In addition one group received postoperative irradiation plus systemic therapy and another group systemic therapy alone. The incidence of late arm lymphedema/impaired shoulder mobility was 11%/4% in the group of patients undergoing surgery alone, 46%/38% in the group of patients receiving adjuvant irradiation and 6%/12% in the group of patients receiving adjuvant systemic therapy. It is concluded that adjuvant irradiation to the axilla in patients with metastatic lymph nodes highly increases the risk of late physical sequelae following modified radical mastectomy. Adjuvant systemic therapy can be administered to high risk patients without increasing the risk of late arm lymphedema and shoulder disability.

Adult↗

A cohort study of neural tube defects (NTD) in Denmark covering the first seven years of life.

In the County of Fyn, Denmark, which is a well-delimited region comprising a 10% representative sample of the total population, ten complete one year cohorts of newborn were scrutinized for neural tube defects (NTD). Among 66,000 births, 71 cases with NTD were observed. The total prevalence at birth was 1.08/1,000; 0.29 for anencephaly; 0.20 for encephalocele, and 0.59 for spina bifida (SB). This is at the same level as in other Scandinavian countries. Considering only neonates born alive, 57% of the total survived until the age of 7 years, disregarding anencephaly, but only 4 of 18 SB cases and 6 of 11 encephalocele cases had no handicaps at age 7. On the average, SB patients spent 9% of their life before the age of 7 years in hospitals and encephaloceles 2%. The SB cases occupied 25 times more beds per year than the comparable age group in general and many were likely to need continued medical and social care.

Anencephaly↗

The incidence and prevalence of familial polyposis coli in Denmark.

Based on the Danish Polyposis Register, the frequency of familial polyposis coli was estimated at the end of 1982. The mean annual incidence rate of polyposis coli has remained rather constant at approximately 1 X 10(-6) X yr-1 since the forties. The life-time risk of developing polyposis coli is about 1 X 10(-4). The point prevalence rate was 26 X 10(-6) at the end of 1982. The number of cases found in sibs and children of probands made it probable that a nation-wide prophylactic examination of first degree relatives resulted in a complete identification of affected family members. The completeness of the Danish Polyposis Register in the period 1976-82 was estimated to be 90% and the validity of the diagnosis is considered to be 100%.

Adolescent↗

Facial clefts in sibs and children of epileptic patients.

The prevalence of facial clefts in sibs and children of 2,072 epileptics ascertained in a defined region was determined by record linkage with a national cleft register, which also provided expected figures. Observed/expected ratios were increased only for cleft lip with or without cleft palate if the mother had manifested epilepsy: it was 4.7 when anticonvulsants were given before and during pregnancy, 2.7 in cases with no treatment, and zero in children born prior to maternal epilepsy. Children of epileptic men and sibs of epileptics showed no increase. The prevalence of isolated cleft palate was not above expectation in any group.

Anticonvulsants↗

Mandibular osteomas in unaffected sibs and children of patients with familial polyposis coli.

Orthopantomography of the mandible (OTM) showed osteomas in 3 of 34 non-affected sibs and children of the probands in 14 families with polyposis coli. The observed to expected ratio with osteomas was 0.35, which is not significantly lower than 1.0 and in accordance with the frequency in the normal population. Although the result does not enable a definite evaluation of the diagnostic value of OTM, the finding suggests that this method may be used as a supplement to regular proctosigmoidoscopic screening of first-degree relatives of polyposis patients.

Adenoma↗