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.

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.

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.

Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians).

Cytogenetic and dermatoglyphic investigations were performed in a mother (M.B.) and her daughter (D.

Age-related influence of piracetam on mitotic index and number of silver-stained nucleolus organizer regions.

Mitotic indices and the number of silver-positive nucleolus organizer regions (AgNORs) were scored in phytohemagglutinin-stimulated cultures of peripheral lymphocytes from two age groups of females (mean = 23.1 and 84.0 yr, respectively) under the influence of Piracetam (2-oxo-pyrrolidine-1-acetamid; Nootropil, Reg.

[Molecular biology in diagnosis and detection of deletion in Duchenne muscular dystrophy].

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.

[Gene technology from the viewpoint of genetic counseling].

Gentechnology detects genetic defects at the DNA level. Direct analysis, which may be performed without family investigations, is the most reliable and therefore the most desirable means of detection. Indirect analysis on the other hand-using restriction fragment length polymorphisms (RFLP) - requires family investigations and the pedigrees are not always informative; furthermore, meiotic recombination may occur leading to erroneous conclusions.

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.

Central pockets in dermatoglyphic analysis: classification, frequency, twin and family data.

Central pockets were defined as small, loop-enclosed whorls whose quantitative values must not exceed the third part of the quantitative value of the loop or as small, whorl-like patterns in the core of a loop having at least one curved ridge with its convexity towards the opening of the loop. Applying this classification scheme, the frequency of central pockets was found to be 17.5% in 200 males and 17.

[Determination of average fiber density (single fiber lead), quantitative electromyography and serum CK in the detection of Duchenne carriers].

The fibre density of the extensor digitorum communis muscle was examined with a monopolar single fiber electrode in 2 definite, one probable and 15 possible Duchenne-carriers. In addition serum-CK was evaluated three times in intervals of a least one week. The fibre density was increased in one definite, one probable and 4 possible carriers (greater than 1.

Effect of donor age on inter- and intrachromosomal distribution of sister chromatid exchanges in cultured human lymphocytes.

The distribution of sister chromatid exchange (SCE) points has been analyzed in cultured lymphocytes from three age-groups of 30 females (n = 10; young: 13-20, middle-aged: 30-55, old: 75-84 years). The observed interchromosomal SCE distribution is in good agreement with the results of previous workers, significant age-dependent differences could not be established. It has only to be mentioned that chromosome E16 showed a relative SCE deficiency in young females, a result which has to be affirmed by further studies.

[Multiple sclerosis and chromosomal aberrations (author's transl)].

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.

Dermatoglyphics and systemic lupus erythematosus.

Finger tip and palmar dermatoglyphics of 37 female patients with systemic lupus erythematosus (SLE) were compared to 100 female controls; patients and controls were native inhabitants of the Eastern part of Austria. SLE patients had a significantly higher frequency of low endings of line A on both hands, and-on the left hand-significantly more patterns in the fourth and fewer patterns in the third interdigitum. There was no association between these dermatoglyphic features and the HLA antigens (B8 an DRw3), which occurred most frequently in our SLE patients.

"Benign" monoclonal IgE gammopathy.

So far IgE monoclonal paraproteins have been found only in patients with malignant diseases, though there are benign monoclonal paraproteins of other immunoglobulin classes. A patient with osteoporosis first seen in Paris in 1965 was found to have a paraprotein type lambda. In 1977 immunoelectrophoresis identified this as IgE lambda paraprotein, and immunodiffusion studies showed precipitin bands identical with those in patients with IgE myeloma.

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.

[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.

[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.

[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.

[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.