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.     

Neurotoxicity and carcinogenicity of N-methylolacrylamide in F344 rats and B6C3F1 mice

Toxicology and carcinogenicity studies of N-methylolacrylamide were conducted by administering the chemical by gavage in water to both sexes of F344/N rats and B6C3F1 mice 5 times per week for 16 d, 13 wk, or 2 yr. In 16-d studies, rats receiving doses of 200 mg/kg or higher and mice receiving 400 mg/kg died. In 13-wk studies, all rats given 100 mg/kg or higher doses died. Rats receiving 50 mg/kg or higher doses developed hindlimb ataxia progressing to paralysis. In neurobehavioral assessments, decreased forelimb and hindlimb grip strength occurred in rats at doses as low as 12.5 mg/kg. Landing footspread was also increased in dosed rats compared to controls. Axon filament and myelin sheath degeneration in the spinal cord and/or peripheral nerves occurred in rats receiving doses of 25 mg/kg or higher. Necrosis in the granular cell layer of the cerebellum was seen in rats given 200 mg/kg. Mice receiving 200 mg/kg in 13-wk studies died. Decreased grip strength was noted in mice at doses as low as 25 mg/kg, and rotarod performance was also affected by N-methylolacrylamide administration, but no neuropathology was seen microscopically. Testicular weights were decreased at doses as low as 12.5 mg/kg, and hepatocellular necrosis, thymic lymphocyte necrosis, and hemorrhage, necrosis, and mineralization of the zona reticularis of the adrenal gland were seen in mice that died (200 mg/kg). In 2-yr studies, survival and weight gains in male and female rats receiving doses of 6 or 12 mg/kg/d were minimally affected. No biologically important clinical signs or neoplastic or nonneoplastic lesions were attributed to N-methylolacrylamide administration to rats, suggesting that higher doses could have been tolerated. In mice, survival was not different between dosed and control groups (0, 25, or 50 mg/kg/d). Body weights were higher by as much as 25% in dosed compared to control groups. No compound-related clinical signs were observed, but increases in neoplasms of the harderian gland, liver, and lung were clearly related to chemical administration in both sexes of mice. Benign granulosa-cell neoplasms of the ovary were also increased in dosed female mice.     

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     

Myocardial sestamibi single-photon emission tomography: Variations in reference values with gender, age and rest versus stress?

Reference data files support the evaluation of myocardial perfusion single-photon emission tomography (SPET). The aim of this study was to create a large reference data base for technetium-99m sestamibi SPET, age and gender matched to the general patient population. One hundred and twenty-eight healthy volunteers (76 males and 52 females) with a likelihood of coronary artery disease of less than 5% underwent rest and maximal exercise^99mTc-sestamibi SPET with a 2-day protocol and 180° elliptical rotation. The normalized activity values of^99mTc-sestamibi in the inferior wall differed significantly between men and women. Age variations were found for men in the anterior wall. Normalized activity values in all four walls were strikingly similar during rest and stress. Our results suggest that the use of reference files in^99mTc-sestamibi SPET requires a gender- and, for males, possibly an age-matched reference population. Different reference files at rest and during stress might not be necessary.     

An occipito-temporal syndrome in adolescents with optimally controlled hyperphenylalaninaemia

Summary The study included 16 adolescents with optimally controlled hyperphenylalaninaemia (McKusick 26160), of whom six did not require treatment according to conventional criteria. All except the two patients with lowest median serum phenylalanine level throughout childhood (most values at 200–300 µmol/L) had white matter abnormalities detectable with magnetic resonance imaging. The lesions were particularly prominent in the watershed regions between the posterior and middle cerebral arteries. In most patients with moderate or severe hyperphenylalaninaemia frontal white matter lesions were present as well. Normal proton magnetic resonance spectra indicated that the lesions were stable. Occipital EEG abnormalities were frequent, and deficient performance on a pattern-recognition test was a characteristic neuropsychological finding. Serum phenylalanine levels at about 300 µmol/L or below throughout childhood and early adolescence may be required to avoid lesions. The present study demonstrates the limitations of even an optimally controlled dietary regimen in hyperphenylalaninaemia.     

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.