Dermatoglyphics and creases in patients with neurofibromatosis von Recklinghausen.

Fingerprint and palmar dermatoglyphics and creases were investigated in 60 patients (20 males and 40 females) with generalized neurofibromatosis. Like previous investigators, we found a significantly increased frequency of digital central pocket patterns. Furthermore, affected males and females had an increased frequency of monocentric whorls (P = 0.0037), higher quantitative values on digit II of both hands (P = 0.04), more often a reduction of main line C (P less than 0.05) with decreased frequencies of patterns in the 3rd and 4th interdigital area of the left hand (P less than 0.05), and a lower ab ridge count (males P less than 0.005; females P less than 0.001) than control individuals. On the right hand of males the frequency of high endings (5' or 5'') of line A was decreased (P less than 0.05). A significantly increased frequency of Sfl (Sydney line) was found in female patients (P less than 0.001). Male and female patients often showed a high number of secondary creases (P less than 0.001).

Hypoplasia of the corpus callosum and growth hormone deficiency in the XXXXY syndrome.

A 3-year-old Libyan boy with the XXXXY syndrome is described. MRI examination of the brain showed hypoplasia of the corpus callosum. He had growth retardation and endocrine studies demonstrated growth hormone (GH) deficiency. Dermatoglyphic pattern was different from previous reports. At histological examination of the undescended testes, Leydig cells were seen although they are usually not found in this variant of the Klinefelter syndrome.

As to the clastogenic-, sister-chromatid exchange inducing-and cytotoxic activity of inosine triphosphate in cultures of human peripheral lymphocytes.

The influence of commercial inosine triphosphate (ITP) on the chromosome aberration rate, the mitotic rate, sister-chromatid exchange (SCE) frequency, and the proportion of first (X1), second (X2) and third (X3) division metaphases was investigated in 72h cultures of human peripheral lymphocytes. The blood donors had mild inactive arthrosis and a normal health check-up. All cultures of each volunteer were set-up simultaneously. In contrast to a previous report [Arch. Biochem. Biophys. 278 (1990) 238-244], it was demonstrated in two preliminary studies (number of subjects, n=5 each) that ITP at a final concentration of 100 microM does not induce chromosomal aberrations and, furthermore, that not ITP concentrations higher than 100 microM but ITP doses higher than 3.8mM prohibit culture growth. Based on these results, cultures with a final ITP concentration of 3.6mM (max.) and 1.8mM (max./2) were compared with control cultures (number of subjects n=10; three males and seven females, mean age x=57.6 years). Whereas no increase in the chromosomal breakage rate was observed in cultures with an ITP concentration of 1.8mM and only a marginally significant one (P=0.048) for 3.6mM ITP cultures, a highly significant induction of SCEs, not only at an ITP concentration of 3.6mM (P<0.0001) but also at 1.8mM (P<0.0001) was seen. The increase in the SCE frequency was not linear, but steeper from 0 to 1.8mM than from 1.8 to 3.6mM. Nevertheless, the difference between 1.8 and 3.6mM cultures was significant (P=0.027). The distribution of the number of SCEs per metaphase as well as the distribution of SCEs per chromosome correspond to the expected Poisson values. The investigation of the cytotoxic effect of the studied ITP concentrations revealed a highly significant reduction of the mitotic rate from 0 to 1.8mM as well as from 1.8 to 3.6mM in the aberration studies (all P values are equal to smallest possible one for a sample size of 10, namely, 0.002), and in the SCE studies there is a significant decrease in the X3 frequency when ITP is increased (0-1.8mM: P=0.0061 and 1.8-3.6mM: P<0.0001). The proportion of X1 within all X1 and X2 metaphases changes significantly only at the second dose step (0-1.8mM ITP: P=0.22 and 1.8-3.6mM ITP: P<0.0001). The results are discussed.

Case report: sicca syndrome due to primary amyloidosis.

Sicca syndrome consists of two major clinical findings: keratoconjunctivitis sicca and xerostomia due to destruction of the lacrimal and salivary gland parenchyma. Although it is most often due to Sjögren's syndrome, a variety of other diseases causes sicca syndrome. We report the rare case of a patient with gland infiltration in primary amyloidosis. Sonographic, computed tomographic and magnetic resonance findings are presented.

[Dermatoglyphic investigations in respect to the genetic basis of autoimmune diseases (author's transl)]. / Hautleistenuntersuchungen zur Frage der Bedeutung genetischer Faktoren bei Autoimmunkrankheiten

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.

[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)]. / Hautleistenuntersuchungen bei einer Familie mit gehäuftem Atriumseptumdefekt (Secundum-Typ). Beitrag zum Problem der genetischen Beratung bei multifaktoriellem Erbgang

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.

[Familial incidence of juvenile diabetes mellitus and primary optic atrophy (author's transl)]. / Familiäres Vorkommen von juvenilem Diabetes mellitus und primärer Optikusatrophie.

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.

[Cytogenetic investigations in patients receiving an intraarticular injection of gold-198 (author's transl)]. / Chromosomenuntersuchungen nach intraartikulärer Injektion von Gold-198

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.

[Multiple sclerosis and chromosomal aberrations (author's transl)]. / Chromosomenuntersuchungen bei multipler Sklerose.

Chromosomal investigations were performed after peripheral lymphocytes taken from 25 healthy females and from 35 female patients suffering from various types of multiple sclerosis had been cultured for 48 hours. The incidence of cells with chromosomal breaks in multiple sclerosis patients (2.0%) was significantly higher than in controls (1.1%): Chi2 = 7.26; DF = 1; p less than 0.01. Furthermore, chromosomal rearrangements (dicentric chromosomes, translocation chromosomes, chromatid exchange figures) were observed more frequently in the MS patients than in the controls. Analysis of the interchromosomal distribution of breaks found in the patients revealed a relative surplus in chromosome A2 and D-group chromosomes.

[Molecular biology in diagnosis and detection of deletion in Duchenne muscular dystrophy]. / Molekularbiologische Diagnostik und Deletionsnachweis bei Duchennescher Muskeldystrophie.

For the purpose of carrier identification and genetic counselling we investigated deletions of the Duchenne muscular dystrophy (DMD) gene in three families of patients with Duchenne muscular dystrophy. Using a limited number of probes of the DMD cDNA in Southern blots, we detected a deletion in only one patient. Additional methodology is necessary to warrant reliable identification of carriers and exact prenatal diagnosis.

[Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)]. / Mukopolysaccharidose V, Morbus ullrich-Scheie.

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.

[Genetic aspects of aging (author's transl)]. / Genetische Aspekte der Lebensbegrenzung

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.