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Biomedical subjects

E Passarge

Publications and source records attributed to E Passarge.

At least 73 records · Page 4Linked to original sources
PubMed1984

Genetic counselling in cystic fibrosis. Results of a survey of 572 families.

In a survey by questionnaire of 572 families with one or more children affected with cystic fibrosis 72% were found to have received genetic counselling. The mode of inheritance was correctly known by only 45% and either not known or incorrectly known by the others. About 75% expressed the wish for more information on the genetics of cystic fibrosis. The data indicate that genetic counselling in cystic fibrosis is not given or is ineffective in a high proportion of families. It is suggested that genetic counselling, backed up by a written resumé should be a regular part of the management of families with this disease. The genetic data are consistent with autosomal recessive inheritance at a single locus.

Attitude to Health↗
PubMed1984

Bloom's syndrome XI. Progress report for 1983.

During the 30 years since its description as a clinical entity, Bloom's syndrome has been diagnosed in more than 100 persons. It is believed that most of these have been accessioned to the Bloom's Syndrome Registry, which now includes 103 persons. Of those 103, 80 are alive, with a mean age of 18.2 years. Twenty-eight malignant neoplasms have been detected, at a mean age of 20.7 years. Periodically, progress reports are being made in this journal of the long-term surveillance of affected families.

Adolescent↗
PubMed1984

HLA-D and -DR antigens on human amniotic fluid cells. II. Heterogeneous expression of HLA-DR and other cell surface markers.

To evaluate further the feasibility of HLA typing for prenatal diagnosis, we tested human amniotic fluid cells (AFC), known to express HLA-A, -B, and -C antigens, for the presence of HLA-DR antigens using type-specific antisera in the microcytotoxicity assay and a monoclonal antibody directed against the common HLA-DR structure (cDR) in indirect immunofluorescence. Prenatal typing of HLA-DR on AFC in the microcytotoxicity test was possible in only one out of eight families studied. The detected DR2 antigen was confirmed by postnatal typings of cord blood lymphocytes. Thereafter, 23 different AFC cultures were tested with monoclonal antibodies in indirect immunofluorescence. Only six cultures were partially positive (23-35% fluorescent cells) with the monoclonal cDR antibody while all AFC cultures demonstrated strong positive fluorescence (68-100%) with a monoclonal antibody against the common HLA-A, -B, and -C structure (cHLA). These data suggest that only a small subpopulation of AFC expresses class II (HLA-DR) antigens in contrast to the nearly ubiquitous expression of class I (HLA-A, -B, and -C) antigens. Furthermore, the heterogeneous expression of cell surface antigens within the various AFC cultures was substantiated with monoclonal antibodies directed toward cell surface antigens of the OKT, OKM, and Lyt series that have been found to be characteristic for subpopulations of lymphoid and hemapoetic cells. Thus, at present, HLA-DR typing is not reliable for prenatal diagnosis.

Amniotic Fluid↗
PubMed1983

HLA-D and -DR antigens on human amniotic fluid cells. I. Lack of expression of HLA-D.

Human amniotic fluid cells, known to express HLA-A, -B, and -C antigens, were tested for the presence of lymphocyte-stimulating antigens (LD or HLA-D) using modifications of the mixed lymphocyte culture (MLC) and primed lymphocyte typing (PLT) tests. Peripheral blood lymphocytes were co-cultured with various concentrations of allogeneic amniotic fluid cells, either growing as a monolayer culture in microtiter plates or suspended in medium following treatment with trypsin. The kinetics of such mixed lymphocyte amniotic fluid cell culture (MLAC) reactions were followed during days 3 to 8. Under none of these conditions did amniotic fluid cells significantly stimulate allogeneic lymphocytes, even after lymphocytes were specifically primed in the PLT assay to the HLA-D antigens segregating in the family of the amniotic fluid cell donor. Furthermore, in three-cell experiments, amniotic fluid cells failed to inhibit an ongoing MLC reaction, indicating that the absence of proliferative response to amniotic fluid cells is not due to active suppression. Taken together, these data strongly suggest that amniotic fluid cells either do not express HLA-D antigens or do not express them in a form that is detectable in either primary or secondary MLC.

Amniotic Fluid↗
PubMed1982

Fetal manifestation of a chromosomal disorder: partial duplication of the long arm of chromosome 5 (5q33 to qter).

Two live-born children and one fetus were found to be affected by autosomal imbalance consisting of a partial duplication of the long arm of chromosome 5 (5q33 to qter) and partial deficiency of the short arm of chromosome 8 (8p23 to pter), resulting from segregation of a paternal translocation heterozygote t(5;8) (q33;p23). The phenotype of the children was rather similar to that of the fetus. The main features included craniofacial dysmorphia consisting of downward slant of eyelids and corners of the mouth, flat and widened nasal bridge, prominent philtrum, and small mandible. Ventricle and atrium septum defects were associated with overriding aorta and right heart hypertrophy in all three. Statomotoric retardation was evident postnatally in the two children. This observation indicates that structural autosomal imbalance may produce a fetal phenotype that is specific for the karyotype and comparable to that seen in the newborn.

Chromosome Aberrations↗
PubMed1981

[X-linked mental retardation and X-chromosome fragile sites (author's transl)].

One of the commonest forms of mental retardation can now be especially diagnosed by differentiated chromosome analysis: X-linked heritable mental retardation with a fragile site on the X-chromosome. The fragile site on the distal long arm of the X-chromosome in region 2, band 7 (Xq27) is not apparent under normal circumstances of culture but must be provoked by folic acid deficiency in the culture medium. The marker X-chromosome is demonstratable in 4-56% of the metaphases in affected males, whereas the recognition of heterozygote gene carriers is still uncertain. In the hemizygotes the defect is characterised clinically by a usually moderately severe intellectual retardation. The character of the carriers is friendly, and well balanced. Speech development is greatly retarded. Testicular volume beyond puberty is increased. Heterozygote females are usually clinically unremarkable. At times a slight mental retardation has been described.

Culture Media↗
PubMed1981

Genetic heterogeneity of XY gonadal dysgenesis (Swyer syndrome): H-Y antigen-negative XY gonadal dysgenesis associated with inflammatory bowel disease.

A 16 1/2-year-old girl was studied because of ileitis, lack of pubertal development, and primary amenorrhea. She had a 46,XY chromosome constitution in lymphocytes in fibroblasts without structural defects of X or Y. She was H-Y antigen negative. This observation supports the concept of causal heterogeneity of XY gonadal dysgenesis (Swyer syndrome). Two groups have been established: (1) H-Y antigen-positive forms, which are more common, possibly due to gonad-specific receptor defects (total failure or reduced receptor affinity), (2) H-Y antigen-negative forms possibly due to mutation in the H-Y generating system, either of the structural gene (presumably autosomal) or of a controlling gene (on the sex chromosomes). The H-Y antigen status may be of value in determining which patients are at risk for gonadoblastoma or dysgerminoma.

Adolescent↗
PubMed1981

Congenital osteogenesis imperfecta in three sibs.

Three sibs of a Turkish family were affected with lethal congenital osteogenesis imperfecta (OI). The disease was characterized by extremely fragile bones and crumpled femora, but in contrast to reported cases of OI type II, relatively normal ribs with only few fractures. The children affected died shortly after birth. Although their parents both came from the same small village in Turkey, consanguinity could not be demonstrated. Our observations support that this disorder is inherited in an autosomal recessive mode. We consider the possibility that these patients represent either a new subgroup of OI type II (milder, although still lethal) or of type III (more severe).

Female↗
PubMed1981

Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect.

The effect on the rate of sister chromatid exchanges (SCEs) in Bloom syndrome fibroblasts by cocultivation with Fanconi anemia and xeroderma pigmentosum fibroblasts and with Bloom syndrome heterozygotes was studied. Cells of Fanconi anemia and xeroderma origin reduced the rate of SCEs in Bloom cells by about 45%-50%, just as control cells do. In contrast, heterozygous Bloom cells reduced the rate of SCEs by only 16%-28%. In absolute figures, Fanconi cells reduced the mean rate of SCE in Bloom cells from 55.7 +/- 5.50- to 27.7 +/- 6.44, xeroderma cells to 30.5 +/- 5.73, and control cells to 28.3 +/- 5.35. Three different cell strains from Bloom syndrome heterozygotes reduced the rate to 40.1 +/- 8.81, 47.0 +/= 6.94, and 47.5 +/- 8.32. There was no effect on any of these cell strains by Bloom syndrome fibroblasts. We interpret the functional deficiency of heterozygous Bloom syndrome fibroblasts as a gene dosis effect. It probably represents a specific manifestation of the yet unknown primary defect, because it suggests the existence of a "corrective factor" that is inactive or absent in homozygous Bloom cells and reduced in heterozygotes. It may be identical with or closely related to the normal gene product at the Bloom locus.

Bloom Syndrome↗
PubMed1980

The delivery of genetic counseling services in Europe.

Organizational forms and the current status of genetic counseling within the health care system of 15 European countries were evaluated by questionnaire and at a symposium, with individuals present from Austria, Belgium, Czechoslovakia, Denmark, the Federal Republic of Germany, the German Democratic Republic, Finland, France, Hungary, Italy, the Netherlands, Norway, Switzerland, the United Kingdom, and the Soviet Union. In spite of wide differences between these countries, certain similarities with respect to the delivery of genetic counseling services could be observed: (i) most genetic counseling is done within university institutions or closely linked to it, (ii) governmental support of genetic counseling is developing slowly, and genetic counseling is usually not yet fully integrated into the health care system; (iii) there is lack of qualified personnel; (iv) no guide lines for formal education have been developed, but a postgraduate training period of no less than four years is considered a minimum; (v) without appropriate support, genetic counseling is a burden for research in human genetics; yet, a strict separation of genetic counseling and research activities is not recommended; (vi) on the average, a team providing genetic counseling for about 1-2 million people should consist of 3--4 physicians, 5-10 technicians, 2-3 secretaries, and other supportive personnel.

Delivery of Health Care↗