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W Vormittag

Publications and source records attributed to W Vormittag.

At least 37 records · Page 2Linked to original sources
PubMed1980

Reduction of main line C.

Fifteen hundred palmar prints of normal persons and patients suffering from various diseases were studied and classified as to dermal ridge configurations at the base of digit IV, after the exclusion of main line C courses with endings at one of the palmar marginal regions. This classification scheme, based on the three classical reduction forms of line C (O,X(8),x), resulted in the differentiation of three main groups, A, B, and C. Within these main groups, pattern types with strong similarity were combined to subgroups allowing an easier documentation. Twin and family data were used to test whether the described pattern types, besides the classical abortive states O,X and x of line C (called special and intermediate forms), are heritable and for which of them a remarkable reduction tendency could be established. The results allow us to confirm the main grouping and the assumed reduction tendency of the special forms of group A.

Dermatoglyphics↗
PubMed1979

[Chromosome studies before and after phenylbutazone infusion therapy].

Studies on chromosomes of lymphocyte cultures of peripheral blood were performed in 15 patients with rheumatoid arthritis (group I: 48-h culture, n = 8; group II; 72-h culture, n = 7) before and after phenylbutazone infusion therapy (600 mg/d for 10 days). The average rate of cells with exchange aberrations of chromosomal type after this therapy (group I: 0.52%; group II: 0.69%) was higher than the control values found before treatment (group I: 0.13%; group II: 0%); X2 test: group I + II: P less than 0.025. The results obtained are discussed.

Adult↗
PubMed1978

[Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)].

Mucopolysaccharidosis V (Scheie's syndrome, MPS-IS) is a very rare, autosomal recessively inherited metabolic disease. The degradation of dermatan sulphate and heparan sulphate is disturbed due to alpha-L-iduronidase deficiency, leading to intracellular storage and excessive urinary secretion of these substances. The characteristic clinical features are contractures (claw-like flexion of the fingers), umbilical and inguinal herniae, corneal opacity, hepatomegaly, myocardiopathy and minor skeletal malformations. A patient with Scheie's syndrome is now reported for the first time in Austria; the results of the clinical, biochemical, chromosomal, dermatoglyphic and electron optical investigations are described and discussed.

Adolescent↗
PubMed1978

[Familial incidence of juvenile diabetes mellitus and primary optic atrophy (author's transl)].

The syndrome of juvenile diabetes mellitus, primary optic atrophy and hydronephrosis, hydroureter and megacystis was observed in two brothers. One patient showed consistent elevation of the plasma creatine phosphokinase activity (isoenzymes MM 71%, MB 29%), without any sign of myocardial or skeletal muscle disease. This rare syndrome is inherited in an autosomal recessive manner. It has not yet been reported in Austria, to our knowledge.

Child↗
PubMed1977

[Age dependence of chromosomal findings].

Relations between aging and chromosomal aberrations are reviewed, comparing own results with those of other investigators. The increase of hypodiploidy in aging women described by Jacobs et al. 1961 could be confirmed by several authors, whereas the age dependence of the rate of hypodiploidy in men, seems to be uncertain. It can be assumed that the hypodiploidy in female cells is caused by loss of X-chromosomes. Primarily, with regard to the observation of Fitzgerald in 1975, that X-chromosomes with premature centromere division (an anomaly which seems to be associated with a high tendency to non-disjunction) could be found more frequent in old, rather than in young females. This result is confirmed by our own studies. In agreement with other investigators we were able to establish a significant difference between the rates of structural aberrations of two age groups of "normal" females: An age-dependent increase of structural aberrations in vivo, could be concluded from the fact that dicentric chromosomes were most frequent in 48-hour cultures of the old females. The high frequency of single chromatid breaks in 72-hour cultures in the same age group, led us to the assumption of an age-dependent chromosomal instability in relation to in vitro conditions. Since numerical and structural aberrations indicate mutagenic alterations, the reviewed cytogenetic results may be an important support for the mutation theories of aging.

Age Factors↗
PubMed1976

[Dermatoglyphics of homo- and heterozygotes for Wilson's disease (hepatolenticular degeneration) (author's transl)].

Dermatoglyphics of 11 patients with Wilson's disease and 16 of their clinically asymptomatic relatives of first degree were investigated; 11 of the latter ones were heterozygous in agreement with the turn over rates of Cu-67, 12 under the assumption of autosomal recessive inheritance. On the finger tips the Mb. Wilson patients showed 52.7% whorls, their heterozygous relatives about 40%; compared with our controls (males 33.16%, females 28.82%, Aue-Hauser, 1970) that means a strong increase of this pattern type. On the palm the high frequency of hypothenar patterns in homo- and heterozygotes for Wilson's disease and of loops with accessory triradius in the 4th interdigitum of the patients with Wilson's disease was striking.

Dermatoglyphics↗
PubMed1976

[Cytogenetic investigations in patients receiving an intraarticular injection of gold-198 (author's transl)].

The chromosomes of lymphocyte cultures from the peripheral blood were investigated in 10 patients (rheumatoid arthritis, ankylosing spondylitis, osteoarthrosis of the knee) before and at short-term intervals (1 day, 3 to 4 days, 14 to 18 days) after the injection of gold-198 (5 to 20 mC; usually 8 mC; average particle size 300 A) into the knee-joint. The number of structural chromosomal abberrations increased markedly in 4 of the 10 patients. On the first day after the gold injection the mean aberration rate was significantly higher than the control value (Chi2-5.18; df=1; P less than 0.05). Most of the observed aberrations were chromatid aberrations and this finding is discussed.

Aged↗
PubMed1976

[Genetic aspects of aging (author's transl)].

The experimental results indicating a primary genetic cause of aging and some diseases of the old age (cancer, arteriosclerosis, immune deficiency, autoimmune diseases) are summarized under two aspects: 1) The genetic influence is determined during the differentiation and development phase of the organism, whereby the direct or indirect (pleiotropic effect) selection of genes of aging, or the missing selection of genes which are acting against aging come into consideration. 2) The dicisive gene alterations take place by spontaneous and/or induced somatic mutations.

Aging↗
PubMed1975

[Tricho-rhino-phalangeal syndrome with autosomal dominant inheritance (author's transl)].

Sparse, slowly growing hair, a big pear-shaped nose and deformities of the fingers are the main characteristics of the tricho-rhino-phalangeal syndrome (TRP); dwarfism is a facultative sign. The cone shaped invagination of the epiphysis into the diaphysis of the fingers and toes causes clinodactyly and brachydactyly. The typical physiognomy of the TRP leads to the suspected diagnosis which may easily be confirmed by X-ray examination. In a 13-year-old girl the classical signs of a TRP were found; several members of the family demonstrated some features of the syndrome. Dermatoglyphic examinations were performed on 9 members of the family.

Abnormalities, Multiple↗
PubMed1975

[Dermatologlyphic investigations in a kindred manifesting familial atrial septal defect (ostium secundum). A contribution to the problem of genetic counselling in multifactorial inheritance (author's transl)].

In order to improve the possibilities of genetic counselling in multifactorial inheritance, dermatoglyphic investigations were performed in a family with atrial septal defect (ostium secundum) - ASD II - affecting two out of six children of a married couple and a maternal aunt. The frequency of finger-print patterns differed widely between the husband and his father on the one hand and the wife and her relatives on the other hand. Assuming some partial effect of the ASD II genes on the total gene influence on dermatoglyphics, it seemed possible that the finger-prints of the two affected siblings and of those brothers who were fairly near the threshold of ASD manifestation might resemble more closely the finger-prints of their mother and their mother's relatives than the finger-prints of their father and their paternal grandfather. This assumption was, however, disproven.

Chromosomes↗
PubMed1975

[Dermatoglyphic investigations in respect to the genetic basis of autoimmune diseases (author's transl)].

Dermatoglyphics of patients with systemic lupus erythematosus, scleroderma and Sjögren's syndrome were very different from the striking findings in Hashimoto's thyroiditis established in 1971 (Weninger and coworkers). Hence, it was concluded that the characteristic dermatoglyphic pattern of Hashimoto's thyroiditis is specific for this autoimmune disease, but not the expression of a general genetic predisposition to autoimmunity.

Autoimmune Diseases↗
PubMed1975

[Dermatoglyphics and creases in a family with brachydactyly (type Drinkwater I) to the question of the relation between dematoglyphics and four-finger-crease (author's transl)].

Dermatoglyphics and creases of three persons (grandmother, mother, son) with brachydactyly (type Drinkwater I) were examined. The finger prints showed only arches and loops of very low quantitative value. On the palm the increased frequency of a high ending of line D, of thenar patterns as well as the general tendency to form an ulnar loop on the hypothenar region were striking. All the three persons had a classical transverse crease (four-finger-crease) on both hands. The relation between dermatoglyphics and transverse crease is discussed from the aspect of the etiology of the four-finger-crease.

Dermatoglyphics↗
PubMed1975

[Chromosomal instability in homo- and heterocygocity for microcephalia vera )author's transl)].

In a family with microcephalia vera, not only the 3 microcephalic probands, but also their healthy mother showed a significantly increased rate of spontaneous structural chromosomal aberrations in cultures of lymphocytes of the peripheral blood. Thus an increased aberration rate in the lymphocytes of asymptomatic family members could serve as a sign of heterocygocity. The qualitative analysis revealed aberrations of the chromatid and chromosomal type; exchanges that are frequently found in Fanconi's and Bloom's syndrome could not be detected. Therefore it can be assumed that the chromosomal instability of microcephalia vera is caused by a specific mechanism.

Adult↗
PubMed1975

[Induction of chromosome aberrations by antirheumatic therapy].

1. The comparison between mean structural chromosomal aberration rates after immunosuppressive therapy and the rate of induction of malignant tumours after application of the same cytostatic substances to animals revealed a far-reaching parallelism: Highest mean aberration rates after therapy with procarbazine (Natulan) and cyclophosphamide (Endoxan) - fewer aberrations after mannitol mustard (Degranol) and no definite induction of chromosomal aberrations after azathioprine (Imurel) (8). 2. The possibility of the induction of chromosomal aberrations in lymphocytes of the peripheral blood after injection of gold 198 into the knee-joint, could be confirmed (9). 3. The mean chromosomal aberration rates before and after infusiontherapy with phenylbutazone (Butazolidin; 300 mg + 600 mg/die during 9 days) showed no significant difference (10).

Adult↗