Výsledky vyhledávání - "Henrik, Rueffert"

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders

Publikováno v: European Journal of Neurology, 29, 3486-3507
European journal of neurology
European Journal of Neurology, 29, 12, pp. 3486-3507

Contains fulltext : 287509.pdf (Publisher’s version ) (Open Access) BACKGROUND AND PURPOSE: Patients with neuromuscular conditions are at increased risk of suffering perioperative complications related to anaesthesia. There is currently little spec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d43086e37c9974e1b8ab1ddcb9f0772
https://doi.org/10.1111/ene.15526

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Search for Genetic Variants in the Ryanodine Receptor 1 Gene in Patients with Symptomatic Cerebral Vasospasm after Aneurysmal Subarachnoid Hemorrhage

Autor: Henrik Rueffert, Christof Renner, Udo X. Kaisers, Markus Dengl, Jürgen Meixensberger, Anja Gumplinger, Andreas W. Reske

Publikováno v: Neurocritical Care. 15:410-415

Cerebral vasospasm is one of the most serious complications after subarachnoid hemorrhage (SAH). The cerebral artery diameter is regulated by complex physiological mechanisms. Among them the regulation of intracellular calcium homeostasis seems to pl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1ce9a9791807da91420ac1f1adeb051
https://doi.org/10.1007/s12028-011-9542-7

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Do Variations in the 5-HT3A and 5-HT3B Serotonin Receptor Genes (HTR3A and HTR3B) Influence the Occurrence of Postoperative Vomiting?

Autor: Jan Wallenborn, Volker Thieme, Astrid Bergmann, Markus Wehner, Derk Olthoff, Nicole Lemnitz, Henrik Rueffert, Udo Kaisers, Kristina Rudlof

Publikováno v: Anesthesia & Analgesia. 109:1442-1447

Postoperative nausea and vomiting are unpleasant side effects of general anesthesia. Besides known risk factors (female gender, nonsmoker, history, and opioids), a genetic influence of the serotonin receptor system on the development of nausea and vo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::872f0f7c41f9501cd5f0d52ec0777101
https://doi.org/10.1213/ane.0b013e3181b2359b

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Core Myopathies and Risk of Malignant Hyperthermia

Autor: Werner Klingler, Henrik Rueffert, Frank Lehmann-Horn, Thierry Girard, Philip M. Hopkins

Publikováno v: Anesthesia & Analgesia. 109:1167-1173

In this article, we analyze myopathies with cores, for which an association to malignant hyperthermia (MH) has been suggested. We discuss the clinical features, the underlying genetic defects, subsequent effects on cellular calcium metabolism, and in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e4a971380ea1d757e528c80e3efa34
https://doi.org/10.1213/ane.0b013e3181b5ae2d

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Calcium Release from Sarcoplasmic Reticulum Is Facilitated in Human Myotubes Derived from Carriers of the Ryanodine Receptor Type 1 Mutations Ile2182Phe and Gly2375Ala

Autor: Derk Olthoff, Henrik Rueffert, Markus Wehner, Fritjoff Koenig

Publikováno v: Genetic Testing. 7:203-211

Malignant hyperthermia (MH) is caused by increased calcium release from sarcoplasmic reticulum, triggered by volatile anesthetics or depolarizing muscle relaxants. Numerous mutations associated with MH have been detected in the skeletal muscle type r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d68151cbd2cd6856758159275e213b6
https://doi.org/10.1089/109065703322537214

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A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

Autor: Ralf Schober, Henrik Rueffert, C. Deutrich, Ursula G. Froster, Derk Olthoff

Publikováno v: American Journal of Medical Genetics. :248-254

Malignant hyperthermia susceptibility (MHS) and central core disease (CCD) have been shown to result from missense mutations in the ryanodine receptor gene of the skeletal muscle (RYR1). A 15-year-old patient who had spondylocostal dysostosis (SCD) d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8b7d2ba2c82aedd97973e5310452eac
https://doi.org/10.1002/ajmg.a.20404

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Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation

Autor: J Neuhaus, Markus Wehner, Henrik Rueffert, D Olthoff, Fritjoff Koenig

Publikováno v: Clinical Genetics. 62:135-146

Malignant hyperthermia (MH) is an autosomal-dominant disorder of skeletal muscle, triggered by volatile anaesthetics and depolarizing muscle relaxants. The causative defect lies in the control of Ca(2+) release from the sarcoplasmic reticulum in skel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::149f5496a83e0da690dd764bf113c3b8
https://doi.org/10.1034/j.1399-0004.2002.620206.x

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Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations

Autor: Derk Olthoff, C D Meinecke, Henrik Rueffert, C. Deutrich, Ursula G. Froster

Publikováno v: Acta Anaesthesiologica Scandinavica. 46:692-698

Background: The ryanodine receptor of the skeletal muscle (RYR1) seems to be of outstanding importance in the pathogenesis of malignant hyperthermia (MH). It has been shown that point mutations in the RYR1 gene are strongly associated with the MH phe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::532e1ef2c0d9a64a767b24bf83e07a93
https://doi.org/10.1034/j.1399-6576.2002.460610.x

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