Ein streng dominant erbliches Kinnmuskelzittern

Zusammenfassung An einem genealogisch zusammenhängenden Menschenmaterial von über 100 Personen wurde bis jetzt an 55 ein streng dominant erbliches, von Geburt an bestehendes Kinnmuskelzittern nachgewiesen.Bei vielen Trägern dieses Merkmals ist dieses mit gewissen bahnenden Tätigkeiten verknüpft, denen ein gemeinsamer spezifischer Gemütszustand (Achtsamkeit) innezuwohnen scheint, zu dessen Darstellung das Phänomen unter Umständen dienen könnte.Verf. sieht in dieser Verknüpfung eine Verwandtschaft des Phänomens mit den Affektäußerungen und mimischen Ausdrucksbewegungen des Menschen.Nach einem am 28. III. 1930 in der Wiener Gesellschaft der Ärzte gehaltenen Vortrage, wobei sieben Träger des Phänomens (Nr. 26, 28, 31, 34, 47, 50 und 52 des Stammbaums) vorgeführt wurden.Das Geburtsjahr wurde darum überall mitangeführt, weil es eine Hypothese, die sog. H. Swobodasche Siebenjahrlehre gibt, die den Einfluß eines Zeitfaktors in Form einer meist siebenjährigen Periodizität auf das erbliche Geschehen behauptet. Wie man sieht, könnte mau bei weniger ausführlichem Studium durch einige Beispiele (3, 11, 40!) versucht sein, auch aus dem vorliegenden Stammbaum ein solches Gesetz zu konstruieren. Genauerer Hinblick gibt aber schlagende Gegenbeispiele. Denn wie will H. Swoboda das unmittelbare Alternieren von Merkmalträgern und Merkmalfreien mit seiner Theorie in Einklang bringen? Z. B. Franz Sch. (4) ist tatsächlich 21, also dreimal sieben Jahre nach seiner Mutter Barbara (2) geboren. Der Einfluß dieses Siebenjahres muß nun aber schon im nächsten Jahr nach Swoboda erloschen sein, da ja der 1847 geborene Josef das KMZ. nicht bekam. Dann müßte aber das nächste Siebenjahr (1853) einen viel breiteren Einflußbereich (volle 5 Jahre) gehabt haben, da ihm sowohl Johanna (1850) wie Anton (1855) ihr KMZ. verdanken sollten. Das nächste Siebenjahr aber blieb überhaupt wirkungslos, denn Josefa (1860) ist frei von KMZ. Nun, was für das eine Siebenjahr recht ist, muß für das andere billig sein. Dies nur ein Beispiel für viele, das genugsam zeigt, wie trügerisch solches Spiel mit Zahlen ist. Und es ist immerhin bedenklich, wenn eine Lehre, die sich bis zu eugenetisehen Ratschlägen an hereditär belastete Eltern versteigt (!), an einem Erbmerkmal von so ungeheurer Durchschlagskraft, wie es das hier besprochene ist, ihre Gültigkeit nicht zeigen kann.     

Metabolic changes following oral exposure to tetrachloroethylene in subtoxic concentrations

Mice were exposed to very small quantities of Per (0.05 and 0.1 mg Per/kg body weight per day) administered orally for 7 weeks. It was shown that Per was transported through the body by two separate mechanisms and was finally stored in the adipose tissue. On the one hand, Per reaches the interior of the membranes of red blood cells, leading to changes in the entire erythropoietic system. The membranes of the red blood cells are destroyed prematurely and its fragments are increasingly phagocytized in the spleen. The result is a high level of Per stored in the spleen. The increase in haemolysis was also demonstrated by showing an increase in LDH activity and the accumulation of haemosiderin in the macrophages in the spleen. Only 8 weeks following discontinuation of Per, these changes were reversible. On the other hand, Per is also transported with the chylomicrons. Since the lipoprotein lipase is inhibited by Per, these molecules are broken down to a lesser degree. The concentration of triglycerides (the major component of the chylomicrons) in the serum was elevated, and the chylomicrons were increasingly integrated into the adipose tissue, Per also reached this depot fat. It took as long as 16 weeks after discontinuation of Per until these changes were fully reversed and the experimental mice no longer differed from those in the control group.Abbreviations Per Perchloroethylene (1,1,2,2-tetrachloroethylene) - SGPT serum glutamate-pyruvate-transaminase - TCA trichloroacetic acid - TCE trichloroethanol - NAD nicotinamide adenine dinucleotide - PBS phosphate buffered saline - LDH lactate dehydrogenase - LDL low density lipoproteins - VLDL very low density lipoproteins     

C-13-NMR-spektroskopische untersuchungen an polymerhomologen reihen von α,1→6- und α,1→4-glucanen

The ¹³C-NMR spectra of malto- and isomalto-oligosaccharides, amylose and dextrane were analysed. It was observed that in both series of oligosaccharides and polysaccharides the resonances of the central glucose units are independent of the chain length with the exception of the C-atoms 1 and 4 of amylose which show deviations of 0,4 and 0,5 ppm. These small effects can possibly be explained by a definite polysaccharide chain conformation in solution.     

Use of two parallel oxygenators in a very large patient (2.76 m2) for an acute "A" dissecting aortic aneurysm repair

The very large patient (weight 142 kg, height 197 cm, body surface 2.76 m2) was referred to acute operation with dissecting type A ascending aortic aneurysm. The calculated blood flow was 6.63 l/min. To anticipate potential difficulties with perfusion and oxygenation two oxygenators connected in parallel were incorporated into the circuit. Bentall procedure with ACB to the RCA was performed. The perfusion was uneventful. Bypass time was 259 minutes, cross clamp time 141 minutes, circulatory arrest 7 minutes. The highest oxygenators gas flow was 2.6 l/min with maximum FiO2 0.42. The use of two in parallel connected oxygenators is a very effective, easy and safe method in such extreme perfusions, offering to the perfusionist a great reserve of oxygenator output.     

The polypore mushroom Irpex lacteus, a new causative agent of fungal infections

Irpex lacteus, a wood-decaying basidiomycete, was isolated from a pulmonary abscess of an immunosuppressed child. This medical strain was compared morphologically and by sequencing of the ribosomal intergenic spacers with specimens from both culture collections and herbarium desiccated material. The patient was treated successfully with amphotericin B.     

Detection of methicillin-resistant Staphylococcus aureus and simultaneous confirmation by automated nucleic acid extraction and real-time PCR

A molecular assay for the simultaneous detection of a Staphylococcus aureus-specific gene and the mecA gene, responsible for the resistance to methicillin in staphylococci, was evaluated. The assay included an automated DNA extraction protocol conducted with a MagNA Pure instrument and real-time PCR conducted with a LightCycler instrument. The performance and robustness of the assay were evaluated for a suspension of methicillin-resistant S. aureus (MRSA) strain with a turbidity equivalent to a McFarland standard of 0.5, which was found to be the ideal working concentration. The specificity of the new molecular assay was tested with a panel of 30 gram-negative and gram-positive bacterial strains other than MRSA. No cross-reactivity was observed. In a clinical study, 109 isolates of MRSA were investigated. All clinical MRSA isolates gave positive results for the S. aureus-specific genomic target, and all but one were positive for the mecA gene. In conclusion, the new molecular assay was found to be quick, robust, and laborsaving, and it proved to be suitable for a routine molecular diagnostic laboratory.     

Phenotypic dynamics of tumor progression in human malignant melanoma

The phenotypic changes in human melanoma cells during the course of tumor progression were studied with monoclonal antibodies (MAbs) against the melanoma-associated antigens (MAA) M.2.2.4, H.2.8.10, K.1.2, A.1.43, and A.10.33, and HLA-(A,B,C and D). Cryostat sections of 172 primary melanomas of the skin, 157 melanoma metastases and 56 nevi were investigated with an indirect immunoperoxidase method. Phenotypic heterogeneity was observed within lesions at all stages, and also within different tumors of the same patients. Despite this heterogeneity, principles of antigen expression were found. From the reaction pattern of MAbs, the following classifications of antigens were derived: "constitutive" markers of nevomelanocytic cells (M.2.2.4 and H.2.8.10) were found expressed over a wide range of local and systemic tumors. One MAA, K.1.2 (Suter et al., 1985), that declines with progression of melanoma, was classified as an "early" antigen, whereas MAA that appear in primary melanoma in proportion to invasiveness, and which are expressed in metastases of lymph nodes and visceral organs (A.1.43, and A.10.33), were classified as "late" markers of tumor progression. HLA-antigens were classified as "intermediate" markers, HLA-A,B,C, as an "early-intermediate", and HLA-DR as a "late-intermediate" marker. The occurrence of class II HLA, A.1.43-, and A.10.33-positive tumor cells in primary melanoma indicates a high metastatic potential of tumors, independent of tumor thickness. The data show that local and systemic progression of melanoma is associated with qualitative changes in tumor cells which can be recognized by MAbs.     

Eye lymphography with Iotasul

In in vivo animal experiments (dog, ape, monkey) the efferent lymph vessels of the conjunctivae and eyelids could be shown as far as the jugular vein by direct and indirect application of Iotasul, a water-soluble X-ray contrast medium.

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Zusammenfassung Mit dem wasserlöslichen Röntgenkontrastmittel Iotasul lassen sich im Tierexperiment (Hund, Affe) in vivo die Lymphabflußwege der Bindehaut und der Lider sowohl nach direkter als auch nach indirekter Applikation bis zum Truncus jugularis darstellen.