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Biomedical subjects

E Passarge

Publications and source records attributed to E Passarge.

At least 91 records · Page 5Linked to original sources
PubMed1980

Everything the pediatrician ever wanted to know about HLA but was afraid to ask.

Following a description of the genetic aspects of the human histocompatibility antigens system HLA and its principle typing methods, this paper reviews the relationship between HLA antigens, transplantation immunology and certain diseases. In particular, the role of the lymphocyte-defined antigens of the HLA-D system is emphasized on the basis of a special typing method, the PLT test, used in our laboratory. Aside from its necessity in bone marrow and kidney transplantation, HLA typing can be used as an additional diagnostic or prognostic tool for certain diseases. Among the pediatric age group, this includes rheumatic fever and other rheumatic diseases, insulin-dependent juvenile diabetes mellitus, some forms of Addison's disease, thyrotoxicosis, myasthenia gravis, celiac disease, and some complement deficiency disorders. Close linkage of the HLA system with steroid 21-hydroxylase deficiency has made it possible to diagnose this form of congenital adrenal hyperplasia in utero. This approach is illustrated in a large family at risk for this disorder.

Addison Disease↗
PubMed1980

Rate of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by co-cultivation with normal fibroblasts.

Six strains of Bloom syndrome (BlS) fibroblasts responded to co-cultivation with normal fibroblasts at a 1:2 ratio by a reduced rate of sister chromatid exchanges (SCE's) from a mean of 67.5 (range = 59--78) to 28.4 (range = 21--35). The response was dose-dependent in one strain tested at 1:2, 1:1, and 2:1 ratios. In addition, quadriradial exchange figures and other signs of increased chromosomal instability were not found in BlS cells following co-cultivation with control cells. Control cells did not respond to BlS cells and maintained a normal rate of SCEs. Culture medium conditioned for 48 hrs by normal fibroblasts could also reduce the rate of SCEs in BlS fibroblasts, but less than in co-cultivation. We suggest that the reduced rate of SCEs and the lack of chromosomal instability in BlS cells following co-cultivation represent a corrective effect that is related to the basic defect and not dependent on cell-to-cell contact.

Adolescent↗
PubMed1979

Frequency of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by cocultivation with normal cells.

Cocultivation of fibroblast cells from a male patient with Bloom syndrome (BS) and a female control reduced the rate of sister chromatid exchanges in the BS cells from a mean of 54 SCE per metaphase (range 42--65) to 41 (range 24--59). Medium used to culture control cells for 48 h also reduced the rate of SCE (from 40--65 to 33-54), whereas medium used for only 24 h altered the SCE rate only slightly (to 39--61). Dialyzed medium concentrate with molecular cutoff at 15,000 did not alter the SCE rate. These initial studies suggest that normal cells produce an agent, presumably lacking in BS cells, that is capable of mitigating the chromosomal manifestation of the BS mutation (bl) in bl/bl cells.

Adolescent↗
PubMed1979

Bloom's syndrome. VII. Progress report for 1978.

The Bloom's Syndrome Registry was published in this journal in 1977. Now, in the first in a series of progress reports, recent accessions to the Registry are recorded, new instances of neoplasia are listed, and recent clinical observations and experimental results of general interest are cited.

Abnormalities, Multiple↗
PubMed1979

Emil Heitz and the concept of heterochromatin: longitudinal chromosome differentiation was recognized fifty years ago.

The work of Emil Heitz (1892--1965) laid one of the keystones of cytogenetics. Using a new in situ method, he established between 1928 and 1935 the longitudinal differentiation of chromosomes in euchromatin (genetically active) and heterochromatin (genetically inert). He recognized the association of satellited chromosomes with the formation of the nucleolus, co-discovered the giant salivary chromosomes of diptera, and arrived at a cytological and genetic concept of chromosome structure that has been found essentially correct to date. Yet, Emil Heitz did not gain due recognition by his contemporaries, suffered from the political disturbances of his time, and spent almost a lifetime in isolation, bolstered only by the conviction that his scientific work was significant.

Bibliographies as Topic↗
PubMed1978

[Syndrome of symphalangism and stapes fixation: an autosomal dominant hereditary disease (author's transl)].

The autosomal dominant hereditary syndrome of symphalangism and stapes fixation consists of multiple synostoses, most frequently symphalangism, in addition to synostoses of carpal and tarsal bones and radio-ulnar synostoses, various other malformations of the limbs (restricted joint movement or syndactylism) and variable degrees of conduction disorders due to stapes fixation, starting in childhood. A family tree of four successive generations with various forms of the syndrome is described.

Child↗
PubMed1978

Partial trisomy 13 presumably due to recombination in an inversion heterozygote and by unequal crossing-over.

Two unrelated infants with partial trisomy 13 for the distal of the long arm are described. In one, a familial pericentric inversion is present in three generations and crossing-over in the inversion loop is considered as cause of partial trisomy 13. The other showed a tandem duplication of the distal half of the long arm of chromosome 13 beyond 13q14. This is interpreted to have arisen by unequal crossing-over in mispaired synapsis. It is suggested that recombination rather than breaks is a distinctive although rare cause of human chromosomal imbalance.

Chromosome Inversion↗
PubMed1977

[Cytogenetic paternity test in father-daughter incest (case report) (author's transl)].

Cytogenetic test for paternity proved superior to serological tests in a case in which possible father-daughter incest was to be proven or disproven. Of seven fetal chromosomal markers three were derived from the putative father, two from the mother and two paternal markers were present in both fetus and mother as a consequence of the incest. The fetus was homozygous for a paternal marker on chromosome 22.

Abortion, Legal↗
PubMed1977

UV-light induced sister chromatid exchanges in xeroderma pigmentosum lymphocytes.

Cultured lymphocytes from 9 patients with clinically different types of xeroderma pigmentosum were exposed to ultraviolet light at 24 h. An increased rate of sister chromatid exchanges were observed in 6 patients (128--148% increase in three, 34--51% in three), but not in three patients with deSanctis-Cacchione syndrome (xeroderma pigmentosum with mental defect), compared to simultaneously cultured controls. A positive result could be useful as preliminary cytogenetic diagnostic test. The results are interpreted as an expression of UV-light induced chromosomal instability due to impaired DNA repair.

Adolescent↗
PubMed1977

Bloom's syndrome. V. Surveillance for cancer in affected families.

The Bloom's Syndrome Registry comprises the 71 individuals in whom this rare genetic disorder has been recognized between the time it was described in 1954 and the end of 1976. The major objective of the Registry is surveillance for cancer in both affected homozygotes and heterozygotes. Of the 61 homozygotes known to have had Bloom's syndrome before cancer was diagnosed and for whom follow-up has been possible, one in nine has developed cancer. Thirteen cancers have been diagnosed, in 12 individuals. The mean age in 1976 of the living individuals with the syndrome was 16.4 years. The mean age at the time cancer was diagnosed was 20 years. Cancers have been of multiple types and have affected various sites.

Abnormalities, Multiple↗
PubMed1977

Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote.

Sweat pores on the epidermal ridges are hypoplastic and reduced in number in three sisters affected with autosomal recessive hypohidrotic dysplasia. The heterozygote state is expressed by a reduced number of qualitatively normal sweat pores (14.07 +/- 8.59 as compared to 22.27 +/- 2.33 in controls). Clinical and genetic considerations suggest that this may be a distinct type that has to be differentiated from other autosomal recessive hypohidrotic ectodermal dysplasias. Heterozygote manifestation may contribute to delineate this groups of disorders further.

Adolescent↗
PubMed1977

Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim.

An effort was made to identify all individuals with Bloom's syndrome living in Israel between September 1971 and September 1972. Each of the eight individuals located were Jewish and could readily be classified Ashkenazic. The frequency of the Bloom's syndrome gene in Ashkenazim was estimated to be .0042 (minimum), implying a heterozygote frequency greater than 1 in 120. A striking distortion of the sex ratio (M/F = 7.0) may have been due to underascertainment of affected females. One of the affected individuals ascertained during the survey subsequently has died from cancer, which is in keeping with the recognized cancer proneness of this condition. Four of the affected have married, but no conception is known to have occurred, which suggests that sub- or infertility is a feature of the syndrome.

Adult↗
PubMed1976

[Cytogenetic and clinical findings in suspected Turner's syndrome: results of a five-year study of 207 patients (author's transl)].

The hallmark of Turner's syndrome is small stature, primary amenorrhoea with delayed puberty and other congenital defects. Cytogenetic examinations were done over a five-year period of 207 patients of different ages. The diagnosis of Turner's syndrome was confirmed by karyotype in 94 (45.4%), tentatively confirmed by X-chromatin in 11 (5.3%) and in 21 (10.1%) with other disorders involving disturbed sexual development. In 73 cases Turner's syndrome was excluded and in nine the investigation had not been completed by the end of the study. There was a wide spectrum of clinical and cytogenetic findings in the 94 patients with cytogenetically confirmed Turner's syndrome: 50 (53.2%) had karyotype 45,X0; 25 (26.6%) X0/XX mosaic; 19 (20.2%) X-chromosomal structural anomalies with or without additional X0 cell line.

Adolescent↗
PubMed1976

Chromatid exchanges in ataxia telangiectasia, Bloom syndrome, Werner syndrome, and xeroderma pigmentosum.

The frequency of BrdU-induced sister chromatid exchanges (SCE) in cultured lymphocytes from patients with ataxia telangiectasia, Werner syndrome, and xeroderma pigmentosum was normal. The rate was increased in xeroderma pigmentosum following exposure to ultraviolet light and spontaneously raised in the Bloom syndrome. Quadriradial exchanges between homologous chromosomes in Bloom syndrome not only involve sister chromatids but also homologous (non-sister) chromatids. This could result in the formation of recombinant chromosomes and is viewed as a genetically determined form of increased somatic recombination in man. Endoreduplicated metaphases showed 'twin' and 'single' exchanges in a 1:2 ratio. This suggests a comparable frequency of exchanges at both divisions and provides evidence for the polarity of the chromatid subunits and the presence of a single chain of DNA.

Abnormalities, Multiple↗
PubMed1976

Trisomy 8 restricted to cultured fibroblasts.

In the course of re-examing cultured fibroblasts stored in liquid nitrogen from a patient with developmental retardation, solitary left kidney, and Wilms tumour, a cell line trisomic for chromosome 8 was found. Trisomy 8 was restricted to fibroblasts in the first 22 subcultures and was absent in later passages as well as in lymphocytes. A familial pericentric inversion of chromosome 2 was observed in three generations including the propositus but was though to be unrelated to the clinical problem. Multiple spontaneous chromosomal rearrangements were seen in several late subcultures.

Cells, Cultured↗