Berufsbedingte Hauterkrankungen—Paradigma der Sekundärprävention

The dermatologist's procedure was introduced in 1972 by employers' liability insurance funds in the industrial, agricultural and public sectors of Germany's statutory occupational accident insurance as a "procedure for early detection of occupational skin diseases". So far, it is still the most relevant tool for secondary prevention in occupational dermatology in Germany. According to the intention of this procedure, insured persons with a skin disease in which an occupational aetiology is suspected must be offered preventive measures and, if necessary, given appropriate treatment to avoid their losing their jobs. On the initiative of the Central Federation of Industrial Professional Associations (HVBG), a study group was set up in 1999 from among its membership in cooperation with the Working Committee of Occupational and Environmental Dermatology (ABD) and the Professional Organisation of German Dermatologists (BVDD) to improve on the efficiency of the "classic" dermatologist's procedure. The proposed "optimised" dermatologist's procedure is based on the assumption that early detection followed by competent and intensified skin protection and skin care will be successful in retarding or stopping the progression of occupational dermatoses, while later treatment is likely to be less effective. In October 2002, a pilot study started in Northwest Germany to establish by scientific evaluation whether the implementation of secondary protective measures is definitively better when the provisional "optimised" dermatologist's procedure is followed. The study results should allow detailed suggestions for an improved dermatologist's procedure before it is introduced nationwide.     

Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

We report on a familial three way translocation involving chromosomes 3, 6, and 15 identified by prometaphase banding and fluorescence in situ hybridisation (FISH). Two mentally retarded sibs with different phenotypic abnormalities, their phenotypically normal sister and mother, and two fetuses of the phenotypically normal sister were analysed. The terminal regions of chromosomes 3q, 6q, and 15q were involved in a reciprocal translocation, in addition to a paracentric inversion of the derivative chromosome 15. Conventional cytogenetic studies with high resolution GTG banding did not resolve this rearrangement. FISH using whole chromosome paints (WCPs) identified the chromosomal regions involved, except the aberrant region of 3q, which was undetectable with these probes. Investigation of this region with the subtelomeric FISH probe D3S1445/D3S1446 showed a balanced karyotype, 46,XX,t(3;15;6) (q29;q26.1;q26), inv der(15) (q15.1q26.1) in two adult females and one fetus. It was unbalanced in two sibs, showing two different types of unbalanced translocation resulting in partial trisomy 3q in combination with partial monosomy 6q in one patient and partial trisomy 15q with partial monosomy 6q in the other patient and one fetus. These represent apparently new chromosomal phenotypes.     

Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection

We evaluated the frequency of congenital chromosomal aberrations in a sample of 305 couples included in an intracytoplasmic sperm injection (ICSI) programme. Twenty individuals (3.3%) with congenital chromosomal abnormalities could be identified. The following types of abnormalities were observed: reciprocal translocations (n = 7), Robertsonian translocations (n = 3), inversions (n = 3), other structural aberrations (n = 4) and sex chromosome aberrations (n = 3). The rate of chromosomally abnormal males (10/305, 3.3%) lay within the expected range for patients with reduced semen quality. Surprisingly, 50% (10/20) of all abnormal karyotypes were contributed by the female partner of ICSI patients. These data confirm the higher incidence of chromosomal aberrations in infertile populations as compared with the baseline population risk. Additionally, the data imply that in some cases of male factor infertility a hidden female chromosomal factor may be present, which cannot be identified by standard clinical evaluation. In conclusion, we recommend chromosomal analysis in both partners of couples undergoing ICSI treatment.      

Chromosome studies in couples with repeated abortions

In a nonselected group of 26 women with 3 or more abortions and in 17 of the respective husbands, chromosomes from lymphocyte cultures were investigated. 6 persons were found to have abnormal chromosomes; in 3 women variations in the length of autosomes were found (46,XX,Gp+; 46,XX ,Gp-; 46,XX,Cq+). 1 woman showed a trisomy C mosaicism in 4% of the analyzed cells. A second one had in 4% of the mitoses a translocation mosaic with a B/D-translocation(46,XX/46,XX,t(Bq+; Dq-)). Another woman with normal karyotype showed in 3 different analyses an increased rate of secondary chromosome aberrations with a high percentage of exchanges.     

Bardet-Biedl syndrome: aspects of nephro-urology and human genetics

Bardet-Biedl syndrome is a genetically heterogeneous autosomal recessive complex of features in which five gene loci have been described up to now. The diagnosis of this rare syndrome is based on the main manifestations hypogonadism, age-dependent increasing obesity and reduction of renal function, age-dependent progressive retinal degeneration with blindness as well as postaxial polydactyly and mental retardation. The life expectancy is short. Problems of early diagnostics, secondary hyperparathyroidism as well as surgical reconstruction of the genitals and kidney replacement therapy are discussed.     

In vitro generation of chemotactic leukotrienes from unfractionated murine epidermal cells

Single cell suspensions of murine epidermal cells were studied for the generation of leukotrienes (LTs), using in vitro bioassays for chemotaxis, reverse-phase high-pressure liquid chromatography (HPLC), and radioimmunoassays (RIAs). A combination of arachidonic acid (AA) at 10(-3)-10(-4) M with the calcium ionophore A 23187 at 5 X 10(-6) M was the most potent stimulus, causing release of LTs within 10-30 min. Other stimuli, like the N-formyl-methionyl-leucyl-phenylalanine, at 10(-7) M and bradykinin at 10(-3) M, were less effective, and the tumor promotor phorbol-myristate-acetate (10(-5)-10(-8) M) caused no release at all. AA induced release at cytotoxic concentrations, but the other stimuli did not, and keratinocytes from different body regions were equally good sources of the LTs. In vivo or in vitro pretreatment of keratinocytes with UV radiation did not alter spontaneous or stimulated secretion of LTs, while pretreatment of cells with Ia, but not with Thy-1, monoclonal antibodies caused a moderate decrease of release. Analyses by HPLC indicated the release of 20-OH-LTB4 in addition to LTB4 in cell supernatants. Murine keratinocytes and epidermal dendritic cells serve therefore as a source of chemotactic leukotrienes after appropriate in vitro stimulation with agents that are known to play a role in cutaneous inflammation.     

Über die Beeinflussung von Wachstum und Atmung junger Zahnkarpfen durch cancerogene Substanzen

Zusammenfassung Durch Verfütterung der Cancerogene 3,4 Benzpyren und Methylcholanthren an junge Tiere wurde bei Platypoelicus maculatus spotted die Gewichtszunahme stark gefördert, während Schwertträger (Xiphophorus Helleri) bei relative gleicher Dosierung der gleichen Substanz das Gewicht der Kontrolltiere nicht erreichten.Es stellte sich ferner heraus, daß bei allen untersuchten Tieren, die mit 3,4 Benzpyren und Methylcholanthren gefüttert wurden, die Atmung gegenüber der Kontrolle um 15–30% erhöht war.

---

Summary By feeding 3,4 benzpyrene and methylcholanthrene to young Platypoelicus maculatus their weights were greatly increased, whereas with equivalent doses of the same substances the sword-bearing carp (Xiphophorus Helleri) failed to reach the weights of control animals. In addition, it could be shown, that in all the animals fed 3,4 benzpyrene and methylcholanthrene, the respiration was increased 15–30% over that of the controls.

     

Kongenitale dyserythropoetische Anämie

Zusammenfassung In jüngster Zeit ist eine neue Anämieform bekanntgeworden. Von dieser sogenannten kongenitalen dyserythropoetischen Anämie lassen sich drei Typen unterscheiden, die in ihren wesentlichsten Merkmalen übereinstimmen. Charakteristika sind eine ineffektive Erythropoese, typische morphologische Veränderungen der Erythroblasten im Knochenmark, eine Eisenstoffwechselstörung sowie eine Manifestation im frühen Kindesalter. Der Typ II zeichnet sich zusätzlich durch einen positiven Säureserumtest und einen hohen i-Titer aus. Die Erythroblasten sind in einem hohen Prozentsatz vielkernig.In vorliegender Arbeit wird die Beobachtung einer weiteren kongenitalen dyserythropoetischen Anämie Typ II mitgeteilt, um die Kenntnis dieses Krankheitsbildes zu vergrößern. Eine eingehende Familienuntersuchung läßt darauf schließen, daß hier ein sporadischer Fall vorlag.

---

Summary Recently a new anemic disorder was reported. Of this so-called dyserythropoietic anemia three types can be differentiated. Characteristic signs are ineffective erythropoiesis, typical morphological changes of the erythroblasts within the bone marrow, an alteration of the iron metabolism and manifestation in early childhood. Type II shows in addition a positive serum acid test and a high i-titre. Erythroblasts are polynuclear in a high percentage. The observation of a further congenital dyserythropoietic anemia type II is presented to increase our knowledge of this disorder. By subtile screening of the patient's family a hereditary trait could not be demonstrated.