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Biomedical subjects

H Boman

Publications and source records attributed to H Boman.

At least 55 records · Page 3Linked to original sources
PubMed1988

Prenatal diagnosis in a female carrying a deletion close to the Duchenne locus.

Family studies including the proband are usually needed before a prenatal diagnosis may be performed for Duchenne muscular dystrophy. We report here on prenatal diagnosis in a family where the solitary index case was dead, and where the consultand and her mother were assumed to be carriers by independent evidence. DNA analysis revealed that both the consultand and her mother had an X chromosome deleted for DNA material in the Xp21 region. The female fetus also carried the deleted X chromosome.

Chromosome Deletion↗
PubMed1986

Hypertrophic cardiomyopathy in three generations of a large Norwegian family. A clinical, echocardiographic, and genetic study.

Hypertrophic cardiomyopathy is a heart muscle disease with an obscure aetiology. Data from four generations of a large family (71 members) are presented. The occurrence of hypertrophic cardiomyopathy among members of the two oldest generations was compatible with a pattern of autosomal dominant inheritance. Seven out of 14 siblings in the second generation had definite signs of or were clinically suspected of having hypertrophic cardiomyopathy. The severity and distribution of left ventricular hypertrophy varied, but three (21%) brothers in generation II showed the classic picture of left ventricular outflow obstruction. Four siblings (29%) died suddenly aged 11, 22, 38, and 40 years. A high incidence of the disease would have been expected in the two younger generations (41 members, aged 1-31 years), but only two, a 16 year old boy and a 17 year old girl had signs of asymmetric septal hypertrophy. Current diagnostic procedures, including M mode and cross sectional echocardiography, are not sufficiently sensitive to identify young family members who may have preclinical hypertrophic cardiomyopathy. No evidence for close genetic linkage between a postulated locus for hypertrophic cardiomyopathy and the major histocompatibility complex (antigens HLA-A, HLA-B, and HLA-DR) was found.

Adolescent↗
PubMed1984

Increased frequency of coronary heart disease in relatives of wives of myocardial infarct survivors: assortative mating for lifestyle and risk factors?

The frequency of myocardial infarction (MI) and coronary artery disease (CAD) was studied among the first-degree relatives of 126 spouses of male survivors of MI, and compared with the frequency of MI and CAD among relatives of 126 age-matched control subjects. MI and CAD were as frequent among the relatives of the wives as among the relatives of their husbands with MI. MI and CAD were less frequent among the relatives of control subjects. Familial aggregation of CAD, therefore, is not limited to patients' relatives, but also affects the wives' families. This finding can be explained by assortative mating, i.e., marriage partners choose mates with similar lifestyles and risk factors that lead to CAD.

Adult↗
PubMed1983

Oral abnormalities in the Saldino-Noonan syndrome.

The oral and dental features of a case of the Saldino-Noonan lethal short rib-polydactyly syndrome (SNS) are described. Natal teeth were noted. The anterior maxillary and mandibular fornices and the central labial frenula were absent. The tongue appeared larger than normal and lacked the sulcus terminalis and the vallate and foliate papillae. The tooth anlagen were abnormal. Microscopic studies revealed small tooth buds, in which hard tissue formation was more advanced than gestational age; abnormalities were noted primarily in the most recently formed dental tissue, indicating that the biochemical defect responsible for this disorder had acted abnormally on dentinogenesis mainly shortly prior to birth. Studies of oral and tooth development should be important to better understanding the abnormal function of the chondrodystrophy genes.

Abnormalities, Multiple↗
PubMed1981

Prenatal diagnosis of nephropathic cystinosis. Pregnancy at risk ascertained through heterozygote diagnosis of parents.

The biochemical diagnosis of cystinosis in a deceased girl was made indirectly through the demonstration of heterozygote values of free-cystine contents in leukocytes from both parents. Amniocentesis was performed on the mother in the 16th week of two subsequent pregnancies. Amniotic fluid cell lysate from the first fetus had 6-8 times normal levels of radioactivity in the cystine band determined by a 35S-cystine pulse labeling method followed by high voltage electrophoresis on paper. Values for the cystine contents in various organs of the affected fetus are given. The second fetus was found to be not affected, and this was subsequently confirmed by the birth of a healthy child. The results of the laboratory analyses in these two cases were available to the parents 21 and 23 days following amniocentesis, respectively. The interruption of the first pregnancy was performed in the 19th week. This was 4 and 6 weeks earlier, respectively, than in the two previously reported induced abortions of affected fetuses, and should increase the acceptability of the present method for prenatal diagnosis of nephrophatic cystinosis.

Amniocentesis↗
PubMed1980

Cholinesterase, arylesterase, and lipoprotein parameters in twins.

A high heritability estimate was obtained for serum arylesterase activity level in a series of 40 male twin pairs (23 MZ, 17 DZ) aged 33-39 years. The heritability estimated for cholinesterase activity was strikingly lower. In unrelated individuals a positive correlation between arylesterase, cholinesterase, and various lipoprotein parameters appeared to support the suggestion that these enzymes interact with various lipoproteins at the molecular level. The nature of these associations is not known. It is, however, tempting to speculate that some of the hereditary influence on lipoprotein levels in man may be mediated through the genetic control of one or both of these enzymes.

Adult↗
PubMed1980

Familial angiolipomatosis.

Large subcutaneous angiolipomata were observed bilaterally around the wrists, knees, and ankles in an adolescent boy. Growth had been slow since first noted at age 1 year. The tumors extended deeply between muscles, tendons and joint capsules, but without infiltration of these structures. The tumors recurred after subtotal excision. Muscular hypotrophy and deformation of bones near the affected joints were noted. An 8-year-old sister had similar tumors, suggesting a genetic etiology.

Adolescent↗
PubMed1980

Sotos syndrome in two brothers.

Two brothers presented from birth with features characteristic of Sotos syndrome (cerebral gigantism): overgrowth, craniofacial abnormalities, and mental retardation with hyperactive and aggressive behavior. X-ray examination of the hands revealed imbalanced and advanced skeletal age in one, whereas anterior fontanel bones were present in both brothers. Various hormone concentrations in plasma were all within normal limits, as were the results of a search for abnormal metabolites in plasma and urine. The occurrence of this usually sporadic syndrome in two sons of possible remotely consanguineous, healthy parents, suggests that in some cases Sotos syndrome may be inherited as an autosomal recessive trait. Thus our observation may support the suggestion of heterogeneity of Sotos syndrome. Until specific tests for the identification of various types are available, genetic counseling for this syndrome is difficult.

Abnormalities, Multiple↗
PubMed1976

Analbuminemia in an American Indian girl.

Analbuminemia was fortuitously detected in a nonedematous 12-year-old American Indian girl with atopic dermatitis, mild bronchial asthma, a mild seizure disorder, and hyperlipoproteinemia with a corneal arcus. Immunologic methods revealed trace amounts (17 mg/100 ml) of apparently normal serum albumin. The patient's parents were remotely related. The pedigree and clinical findings were compatible with autosomal recessive transmission of analbuminemia. Heterozygotes had subnormal levels of serum albumin. The Gc-locus is closely linked to the structural albumin locus. Gc-protein levels were normal in the patient and together with normal chromosomal banding studies make it unlikely that a chromosomal deletion caused analbuminemia. Gc-types in the family were compatible with, but did not prove, linkage of analbuminemia to the Gc-locus. These findings suggest a "thalassemia"-like mutation for this disorder.

Adult↗
PubMed1976

Hereditary retinoschisis linkage studies in a family and considerations in genetic counselling.

We report a family with X-linked juvenile retinoschisis. In addition to the three males with severe visual impairment, six other males in this family were found to have hitherto undiagnosed disease. The findings in these mildly affected males are described in detail. The wide range of clinical manifestations found among the affected relatives initially hampered recognition of the correct diagnosis. Once the correct diagnosis was made, proper genetic counselling could be given. The data are compatible with loose linkage between the loci for juvenile retinoschisis and the red cell antigen marker Xga.

Adolescent↗
PubMed1975

Variegated translocation mosaicism in human skin fibroblast cultures.

The term "variegated translocation mosaicism" is used to describe the repeated occurrence, within cultures of human skin fibroblasts, of a multiplicity of chromosomal rearrangements. With respect to the frequencies of such cytogenetically aberrant clones we found that they (1) were not detectable in routine diagnostic skin fibroblast cultures from 29 subjects with a wide variety of indications for biopsy; (2) were not detectable during in vitro aging of diploid strains with four normal individuals; (3) could be detected after rescue from bacterial contamination of a culture from an otherwise normal diploid male; (4) occurred with high frequencies in independent cultures from another apparently normal subject; (5) occurred with high frequencies in multiple biopsies obtained at autopsy from a patient with Werner's syndrome who died of sepsis; (6) were of pseudodiploid nature; and (7) involved a different spectrum of chromosomes in different individuals. A consistent association with mycoplasma contamination could not be made.

Adolescent↗