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排序方式: 共有2901条查询结果,搜索用时 46 毫秒
71.
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Johanna Christina Czeschik Ute Hehr Britta Hartmann Hermann-Josef Lüdecke Thorsten Rosenbaum Bernd Schweiger Dagmar Wieczorek 《European journal of medical genetics》2013,56(12):689-694
Walker–Warburg syndrome (WWS) is a severe muscular dystrophy with eye and brain malformations. On a molecular level, WWS is a disorder of the O-linked glycosylation of α-dystroglycan and therefore referred to as one of the dystroglycanopathies. The disease family of muscular dystrophy–dystroglycanopathy (MDDG) contains a spectrum of severe to mild disorders, designated as MDDG type A to C. WWS, as the most severe manifestation, corresponds to MDDG type A. Defects in the genes POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, GTDC2, G3GALNT2, GMPPB, B3GNT1, TMEM5 and COL4A1 and ISPD have been described as causal for several types of MDDG including WWS, but can only be confirmed in about 60–70% of the clinically diagnosed individuals. The proteins encoded by these genes are involved in the posttranslational modification of α-dystroglycan. Mutations in POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, GMPPB, TMEM5 and COL4A1 and ISPD lead to a wide spectrum of phenotypes of congenital muscular dystrophies with or without eye and brain abnormalities. Patients with WWS frequently demonstrate a complete lack of psychomotor development, severe eye malformations, cobblestone lissencephaly and a hypoplastic cerebellum and brainstem, seizures, hydrocephalus and poor prognosis. Here, we present a boy with WWS who showed compound heterozygous changes in ISPD and discuss the clinical and radiological phenotype and the molecular genetic findings, including a novel pathogenic mutation in ISPD. 相似文献
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Eugen Sandica Ute Blanz Lotfi Ben Mime Ursula Schultz‐Kaizler Deniz Kececioglu Nikolaus Haas Guenther Kirchner Edzard zu Knyphausen Volker Lauenroth Michiel Morshuis 《Artificial organs》2016,40(3):225-232
This retrospective study reviews our results regarding the long‐term support in pediatric patients using two ventricular assist systems between January 2008 and April 2014. We implanted the Berlin Heart EXCOR in 29 patients (median age 3.4 years [interquartile range (IQR) 0.2–16.5], median weight 13 kg [IQR 4.2–67.2]). Twenty‐two patients (75.8%) received a left ventricular assist device. Three patients (10.3%) had single‐ventricle physiology. One patient (3.4%) had mechanical mitral valve prosthesis. The HeartWare System was implanted in nine patients. The median age was 15.6 years (IQR 12.2–17.9), and the median weight was 54.9 kg (IQR 27.7–66). In the Berlin Heart group, the median support time was 65 days (IQR 4–619), with 3647 days of cardiac support. Nineteen patients (65.5%) were transplanted, six patients (20.7%) recovered, one patient (3.4%) is on support, and three patients (10.3%) died on support. Survival rate was 89.7%. Fourteen blood pumps had been exchanged. Four patients (13.8%) had local signs of infection, and three patients (10.3%) had neurological complications. In the HeartWare group, the median support time was 180 days (IQR 1–1124), with 2839 days of cardiac support. Four patients (44.4%) had local signs of infection, and three (33.3%) had neurological complications. Eight patients (88.9%) have been transplanted, and one patient (11.1%) died on support. Survival rate was 88.9%. Excellent survival is possible after long‐term mechanical circulatory support in patients with two‐ and single‐ventricle physiology with a low rate of adverse events. 相似文献
75.
Blassmann Ute Morath Benedict Fischer Andreas Knoth Holger Hoppe-Tichy Torsten 《Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz》2018,61(9):1103-1110
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz - Arzneimittelbezogene Probleme (ABP) sind eine signifikante und häufig vermeidbare Ursache für Morbidität und... 相似文献
76.
Katrin Schaller Ute Mons 《Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz》2018,61(11):1429-1438
In Germany, several tobacco control policies have been implemented since 2002. These include tobacco tax increases, restrictions on sale and advertising, smoke-free legislation, and health warnings on tobacco products. All of those contributed to the emerging trend towards nonsmoking – especially among youth and young adults – as well as to the impressive decline of cigarette sales from 145.1 billion cigarettes in 2002 to 75.8 billion in 2017. Despite this, still 13% of all deaths are attributable to smoking in Germany.Other countries are acting in a more committed manner and are implementing much stronger tobacco control policies than Germany. Germany is the only EU country that doesn’t yet have a billboard ban on tobacco advertising, the smoke-free legislation is weak due to exceptions, and for more than ten years the tobacco tax has not been markedly increased. Globally, more than 30 countries have implemented at the highest possible level four of the six most important tobacco control policies as defined by the World Health Organization – Germany has implemented only two policies. Therefore, on an international scale, Germany is clearly lagging behind in tobacco control and on the European Tobacco Control Scale it is ranked second last. A more committed and compelling approach towards tobacco control is required in Germany to reach a position in terms of protecting the population from the devastating health hazards of smoking, which would be appropriate for a leading industrial nation. 相似文献
77.
Die Unfallchirurgie - Densfrakturen zählen zu den häufigsten Verletzungen der Wirbelsäule. Neben den klassischen Verfahren kann die dorsale C1-C2-Fusion nach Goel-Harms als... 相似文献
78.
Xiaohong Wang Heinz C. Schröder Ute Schlossmacher Meik Neufurth Qingling Feng Bärbel Diehl-Seifert Werner E. G. Müller 《Calcified tissue international》2014,94(5):495-509
Ca-phosphate/hydroxyapatite (HA) crystals constitute the mineral matrix of vertebrate bones, while Ca-carbonate is the predominant mineral of many invertebrates, like mollusks. Recent results suggest that CaCO3 is also synthesized during early bone formation. We demonstrate that carbonic anhydrase-driven CaCO3 formation in vitro is activated by organic extracts from the demosponge Suberites domuncula as well as by quinolinic acid, one component isolated from these extracts. Further results revealed that the stimulatory effect of bicarbonate (HCO3 ?) ions on mineralization of osteoblast-like SaOS-2 cells is strongly enhanced if the cells are exposed to inorganic polyphosphate (polyP), a linear polymer of phosphate linked by energy-rich phosphodiester bonds. The effect of polyP, administered as polyP (Ca2+ salt), on HA formation was found to be amplified by addition of the carbonic anhydrase-activating sponge extract or quinolinic acid. Our results support the assumption that CaCO3 deposits, acting as bio-seeds for Ca-carbonated phosphate formation, are formed as an intermediate during HA mineralization and that the carbonic anhydrase-mediated formation of those deposits is under a positive–negative feedback control by bone alkaline phosphatase-dependent polyP metabolism, offering new targets for therapy of bone diseases/defects. 相似文献
79.
80.
Antibody to Myosin: The Specific Visualization of Myosin-Containing Filaments in Nonmuscle Cells 总被引:39,自引:17,他引:39 下载免费PDF全文
Klaus Weber Ute Groeschel-Stewart 《Proceedings of the National Academy of Sciences of the United States of America》1974,71(11):4561-4564
Myosin in human, rat, mouse, and chicken fibroblasts was localized by indirect immunofluorescence microscopy using antibodies prepared in rabbits against highly purified chicken gizzard myosin. Filaments containing myosin span the interior of the cells and are often parallel to each other. The majority of the fibers are concentrated toward the adhesive side of the cell. Most of the myosin-containing filaments show "interruptions" or "striations." From a comparison of these fibers in fluorescence and phase microscopy and from previous results on actin-containing fibers, we conclude that at least some of the cytoplasmic myosin can be found in the actin-containing fibers, which themselves have been shown to be very similar or identical to the microfilament bundles. The occurrence of both myosin and actin in the microfilament bundles provides a basis for the motility and contractility of the cell. 相似文献