Die Inkorporation von markiertem Sauerstoff aus Wasser in die ATP-, Kreatinphosphat- und Orthophosphat-Fraktion intakter Muskeln bei Ruhe,tetanischer Reizung und Erholung

Ohne ZusammenfassungMit 7 TextabbildungenDie vorliegenden Studien am Physiologischen Institut Freiburg i. Br. wurden durch einen Bundeszuschuß des Ministeriums für Atomkernenergie und Wasserwirtschaft (Bonn) ermöglicht. Die Untersuchungen in Zürich wurden aus Mitteln des Schweizer Nationalfonds getragen. Den genannten Institutionen gilt unser besonderer Dank. Vorläufige Mitteilungen über die Methode und die hier dargestellten Ergebnisse wurden bereits früher gegeben [siehe Fleckenstein, A. E. Gerlach, u. J. Janke gemeinsam mit P. Marmier: Naturwissenschaften 46, 365 (1959); Pflügers Arch. ges. Physiol. 270, 20 (1959); P. Marmier gemeinsam mit E. Gerlach, J. Janke u. A. Fleckenstein: Pflügers Arch. ges. Physiol. 270, 19 (1959); A. Fleckenstein: University of London Special University Lectures in Physiology 26–28. Oct. 1959: The turnover rates of high energy phosphate compounds during activity and rest as indicated by the oxygen exchange with H₂O¹⁸. Bericht von E. Gerlach sowie von J. Janke vor der Freiburger Med. Ges. vom 24. 11. 1959, vgl. Klin. Wschr. 38, 341–342 (1960)].     

Engulfment of mast cell secretory granules on skin inflammation boosts dendritic cell migration and priming efficiency

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Client feedback on physiotherapy counselling in primary health care

The extent of rehabilitation services is adequate, but little feedback is available on these services and service users. This paper is based on a client feedback survey of physiotherapy services conducted in Spring 2000. The purpose of the paper is to compare patients' perceptions of the physiotherapy instruction they received in a private outpatient facility and in a public physiotherapy facility. The results of the study showed that physiotherapy clients were satisfied with the therapy and instruction they received. They felt they received an adequate amount of instructions and advice. The rehabilitee's strong commitment to care, high motivation and a support network are important to independent rehabilitation in the future. As for the point of contact, the majority of clients in the private physiotherapy facility were gainfully employed while the health centre had almost as many retired clients. Client instruction was not dependent on the point of contact.     

Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex

Long range physical mapping within the p21 region of the X chromosomeIdentified a CpG rich Island approximately 180 kb centromericto the chronic granulomatous disease (CGD) locus. The segmentsadjacent to the CpG Island hybridized to discrete bands In DNAsof several species and when used to screen retinal cDNA librariesled to the Identification of cDNAs that detected a mRNA of 2.1kb in many tissues. Molecular characterization of correspondinggenomic clones of this novel human gene confirmed the originof the cDNA clones and Indicated a genomic structure with fiveexons spanning a total of 9 kb. The complete cDNA sequence revealedthat this gene contained a putative open reading frame of 116amino acids with a 3' untranslated region of 1.74 kb. The aminoacid sequence shows a high degree of similarity to the predictedproduct of the tctex-1 gene of the mouse t complex. As linkagestudies and patients with deletions have Implicated the Xp21region as containing the retInltls plgmentosa defect (RP3),the gene was assessed as a candidate disease gene In RP3 families.A single base pair polymorphism was Identified within the codingregion but no disease associated changes were found by singlestrand conformational polymorphism and sequencing analysis ofamplified exons of 20 RP patients. Analysis of a dinucleotiderepeat polymorphism within this gene In families affected withRP3 suggested refinement of the RP3 region.     

Self-reinforced polylactide/polyglycolide 80/20 screws take more than 1(1/2) years to resorb in rabbit cranial bone

The aim of this study was to assess tissue reactions to bioabsorbable self-reinforced polylactide/polyglycolide (SR-PLGA) 80/20 miniscrews in rabbit cranial bone. One PLGA screw was implanted on one side and one titanium screw on the other side of the sagittal suture (n = 21). Three animals were sacrificed after 2, 4, 8, 16, 24, 54, and 72 weeks. In histological examination the numbers of macrophages, giant cells, active osteoblasts, and fibrous tissue layers were assessed and degradation of the bioabsorbable screws was evaluated. After 2 weeks, macrophages were seen near the heads of both screws. After 4 and 8 weeks, the bioabsorbable screws were surrounded by fibrous tissue. Osteoblastic activity and groups of several giant cells were seen. After 24 weeks, a significant change in the morphology of the PLGA screws had occurred. Osteoblastic activity and the amount of giant cells had decreased. After 1 year, some PLGA biomaterial was still present. PLGA screws had been replaced by adipose tissue, fibrous tissue, and "foamy macrophages" that had PLGA particles inside them. After 1(1/2) years, the amount of biomaterial remaining had decreased remarkably. The particles of biomaterial were inside foamy macrophages. SR-PLGA 80/20 screws are biocompatible and have no clinically manifested complications when used in the cranial bone of rabbits. No contraindications as regards their clinical use in craniofacial surgery was found when these screws were studied in the cranial bones of rabbits.     

Age, gender and litter-related variation in T-lymphocyte cytokine production in young pigs

The capacity of farm animals to produce cytokines could be an important determinant of robustness and health. From research in rodents and humans it appears that the production and the balance of T helper 1 (Th1) and T helper 2 (Th2)-type cytokines influences susceptibility to autoimmune and infectious diseases. It is known that pigs show a large variation in many immune response parameters. So far the extent of individual variation in the production of Th1- and Th2-type cytokines in commercial outbred pigs has not been reported. In the current experiment we determined mRNA expression, as well as protein production of cytokines in 32 pigs from eight litters. From each litter two male and two female pigs were tested at 2, 5 and 8 weeks of age. Two Th1-type cytokines, interleukin (IL)-2 and interferon (IFN)-gamma, and two Th2-type cytokines, IL-4 and IL-10, were measured after phytohaemagglutinin (PHA)-stimulation of blood mononuclear cells. Cytokine production and the Th1/Th2-ratio were highly variable. The variation in cytokine protein production was moderately consistent across ages, i.e. pigs that produced high levels of cytokine at 2 weeks of age tended to do so as well at 5 and 8 weeks of age. Cytokine production tended to increase with age, and gilts and boars differed in their IL-2/IL-4 ratio. Unexpectedly, age, gender and litter effects often differed for mRNA and protein production data. We hypothesize that cytokine production is a consistent trait in pigs, especially at the protein production level. Future investigations in more animals and across a wider age range are necessary.     

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

Leukodystrophies are a heterogeneous group of heritable disorders characterized by abnormal brain white matter signal on magnetic resonance imaging (MRI) and primary involvement of the cellular components of myelin. Previous estimates suggest the incidence of leukodystrophies as a whole to be 1 in 7,000 individuals, however the frequency of specific diagnoses relative to others has not been described. Next generation sequencing approaches offer the opportunity to redefine our understanding of the relative frequency of different leukodystrophies. We assessed the relative frequency of all 30 leukodystrophies (associated with 55 genes) in more than 49,000 exomes. We identified a relatively high frequency of disorders previously thought of as very rare, including Aicardi Goutières Syndrome, TUBB4A‐related leukodystrophy, Peroxisomal biogenesis disorders, POLR3‐related Leukodystrophy, Vanishing White Matter, and Pelizaeus‐Merzbacher Disease. Despite the relative frequency of these conditions, carrier‐screening laboratories regularly test only 20 of the 55 leukodystrophy‐related genes, and do not test at all, or test only one or a few, genes for some of the higher frequency disorders. Relative frequency of leukodystrophies previously considered very rare suggests these disorders may benefit from expanded carrier screening.     

No evidence for allelic association between bipolar disorder and monoamine oxidase a gene polymorphisms

We have tested the hypothesis that DNA markers in the MAOA gene show allelic association with bipolar affective disorder. Eighty-four unrelated Caucasian patients with DSM III-R bipolar disorder and 84 Caucasian controls were typed for three markers in MAOA: a dinucleotide repeat in intron 2, a VNTR in intron 1, and an Fnu4HI RFLP in exon 8. No evidence for allelic association was observed between any of the markers and bipolar disorder. © 1995 Wiley-Liss, Inc.     

Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy)

Mucolipidosis III (MLIII) is caused by a deficiency of UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine 1-phosphotransferase (phosphotransferase) activity, an enzyme responsible for the formation of the recognition marker on most lysosomal enzymes. The consequences of this defect are impairment of many lysosomal catabolic processes. A deficiency of phosphotransferase activity causes two phenotypically different diseases: mucolipidosis II and a rare form, mucolipidosis III (pseudo-Hurler polydystrophy). The purpose of this article is to report three patients with ML III, presenting quite different clinical courses: Patient 1 is a 13-year-old girl in whom the only symptoms of ML III were joint stiffness of the hands. Patients 2 and 3 are sibs: a 5-year-old boy with a severe form of ML III and his 2-year-old sister, who is less affected than her brother at the same age. A comparison of biochemical results and the clinical picture of our patients with cases in the literature is presented.