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991.
Goldstein EJ Citron DM Warren Y Merriam CV Tyrrell K Fernandez H Radhakrishnan U Stang PJ Conrads G 《Antimicrobial agents and chemotherapy》2004,48(7):2766-2770
The comparative in vitro activities of 11 iodonium salt compounds, 0.12% chlorhexidine, and four antimicrobial agents against 322 anaerobic and fastidious potential dental and periodontal bacterial pathogens were studied. Iodonium salts 3, 4, 5, 9, and 10 had in vitro activities comparable to that of chlorhexidine against most isolates. These compounds may be suitable for incorporation into an oral mouthwash. 相似文献
992.
Tatjana Bierhals Georg Christoph Korenke Martina Baethmann Laura López Marín Martin Staudt Kerstin Kutsche 《European journal of medical genetics》2018,61(6):329-334
Congenital mirror movements (CMM) are involuntary movements of one side of the body that mirror intentional movements of the other side. Heterozygous missense, frameshift and nonsense variants and small intragenic deletions in DCC cause CMM, isolated agenesis of the corpus callosum (ACC) or both. We report here the clinical phenotype and natural history of ten individuals with CMM carrying five different monoallelic DCC variants, including the missense variant p.(Trp273Arg), two duplications, one deletion and one deletion-insertion; all are novel and absent from databases. We re-evaluated the 15 known disease-associated DCC missense variants by determining minor allele frequency (MAF) and pathogenicity using four in silico tools combining previous pathogenicity scores and the ACMG/AMP standards and guidelines and classified them in three groups. Group I contains three DCC missense variants that are rather unlikely to be associated with a higher risk to CMM and/or ACC. The five variants in group II may represent susceptibility factors to altered midline crossing in the central nervous system. Group III includes seven variants absent in publically available databases and representing possible pathogenic alleles, with four predicted to have a severe impact on protein function. Based on this data and the variable expressivity and incomplete penetrance present in heterozygous carriers of a DCC variant, classification and clinical interpretation of missense variants is challenging in the absence of evidence of pathogenicity originated from functional studies. Evaluation of missense variants by MAF and a weighted combination of several computational algorithms is recommended. 相似文献
993.
Bianca Dimitrov Nastassja Himmelreich Agnes L. Hipgrave Ederveen Christian Lüchtenborg Jürgen G. Okun Maximilian Breuer Anna-Marlen Hutter Matthias Carl Luca Guglielmi Andrea Hellwig Kai Christian Thiemann Markus Jost Verena Peters Christian Staufner Georg F. Hoffmann Annette Hackenberg Nagarajan Paramasivam Stefan Wiemann Christian Thiel 《Molecular genetics and metabolism》2018,123(3):364-374
Congenital disorders of glycosylation (CDG) are genetic defects in the glycoconjugate biosynthesis. > 100 types of CDG are known, most of them cause multi-organ diseases. Here we describe a boy whose leading symptoms comprise cutis laxa, pancreatic insufficiency and hepatosplenomegaly. Whole exome sequencing identified the novel hemizygous mutation c.542 T > G (p.L181R) in the X-linked ATP6AP1, an accessory protein of the mammalian vacuolar H+-ATPase, which led to a general N-glycosylation deficiency. Studies of serum N-glycans revealed reduction of complex sialylated and appearance of truncated diantennary structures. Proliferation of the patient's fibroblasts was significantly reduced and doubling time prolonged. Additionally, there were alterations in the fibroblasts' amino acid levels and the acylcarnitine composition. Especially, short-chain species were reduced, whereas several medium- to long-chain acylcarnitines (C14-OH to C18) were elevated. Investigation of the main lipid classes revealed that total cholesterol was significantly enriched in the patient's fibroblasts at the expense of phophatidylcholine and phosphatidylethanolamine. Within the minor lipid species, hexosylceramide was reduced, while its immediate precursor ceramide was increased. Since catalase activity and ACOX3 expression in peroxisomes were reduced, we assume an ATP6AP1-dependent impact on the β-oxidation of fatty acids. These results help to understand the complex clinical characteristics of this new patient. 相似文献
994.
Moritz A Koci G Steinlechner B Hölzenbein T Nasel C Grubhofer G Dworschak M 《Wiener klinische Wochenschrift》2007,119(21-22):669-673
Approximately 10-20% of patients will not tolerate cross-clamping of the common carotid artery for carotid endarterectomy procedures. The most frequent causes of neurological deficits are either embolization of particulate matter or cerebral hypoperfusion. Insufficient blood flow through primary collaterals of the circle of Willis is the main reason for hypoperfusion that requires immediate shunt placement. Although excessive preoperative imaging is not indicated in many patients undergoing disobliteration of a stenosed internal carotid artery, there are some patients with particular anatomic constellations who would benefit from a more detailed preoperative work-up. In these cases, the specific risk should be evaluated prior to surgery in order to make plans for appropriate intraoperative management regarding neurologic monitoring and shunt insertion. As regional anesthesia permits early detection of ischemic symptoms, it is advantageous in these patients. We report a case where regional anesthesia allowed early detection of rapidly progressing signs of bi-hemispheric brain ischemia in a patient with diabetes and with at that time unknown severe abnormalities of the circle of Willis. Lack of adequate collateralization was detected only after surgery, in a combined perfusion-magnetic resonance imaging study. In symptomatic diabetics with low-grade stenosis of the internal carotid artery, preoperative assessment of the function of the circle of Willis may therefore be helpful in predicting any increased risk for intraoperative cerebral ischemia. 相似文献
995.
Samir M. Said Judit Hahn Eberhard Schleyer Marc Müller Georg Martin Fiedler Michael Buerke Roland Prondzinsky 《Clinical research in cardiology》2007,96(2):61-69
Summary Thrombocyte glycoprotein IIb/IIIa inhibitors prevent fibrinogen binding and thereby thrombocyte aggregation. The inhibition
of thrombocyte activation at the damaged coronary plaque is the target of the new therapeutic strategies in treating acute
coronary syndrome. This reduces the ischemic complications associated with the non-STelevation myocardial infarction (NSTEMI)
and percutaneous coronary intervention (PCI).
Thrombocytopenia is a known complication of glycoprotein (GP) IIb/IIIa inhibitors. Although, in general, GP IIb/IIIa inhibitor-induced
thrombocytopenia is a harmless side effect which responds readily to thrombocyte transfusion, it can occasionally be a very
serious complication associated with serious bleeding. In addition patients developing thrombocytopenia have unfavorable outcome
(e.g., death, myocardial infarction, bypass surgery or additional PCI) in comparison to patients without thrombocytopenia.
Advanced age (> 65 years), low BMI and a low initial thrombocyte count (<180 000/μl) are independent risk factors of thrombocytopenia.
The risk of bleeding is higher with this form of thrombocytopenia not only due to the low thrombocyte count but also to the
impaired function of the remaining thrombocytes.
It is important to closely monitor platelet count during GP IIb/IIIa antagonist treatment. Platelet count monitoring two,
six, twelve and 24 hour after starting the treatment reveals most cases of acute thrombocytopenia. Side effects can be avoided
by the early discontinuation of the GP IIb/IIIa antagonist treatment.
This article reviews the diagnosis and treatment of glycoprotein IIb/IIIa inhibitor-induced thrombocytopenia and summarizes
the differential diagnosis from heparin-induced thrombocytopenia and laboratory-related pseudothrombocytopenia. 相似文献
996.
Kotzmann H Schmidt A Lercher P Schuster E Geyer G Frisch H Hörl WH Mayer G Luger A 《Nephron. Clinical practice》2003,93(2):C75-C82
997.
Klaus Distelmaier Dominik Wiedemann Christina Binder Thomas Haberl Daniel Zimpfer Gottfried Heinz Herbert Koinig Alessia Felli Barbara Steinlechner Alexander Niessner Günther Laufer Irene M. Lang Georg Goliasch 《The Journal of thoracic and cardiovascular surgery》2018,155(6):2471-2476
Objective
The overall therapeutic goal of venoarterial extracorporeal membrane oxygenation (ECMO) in patients with postcardiotomy shock is bridging to myocardial recovery. However, in patients with irreversible myocardial damage prolonged ECMO treatment would cause a delay or even withholding of further permanent potentially life-saving therapeutic options. We therefore assessed the prognostic effect of duration of ECMO support on survival in adult patients after cardiovascular surgery.Methods
We enrolled into our single-center registry a total of 354 patients who underwent venoarterial ECMO support after cardiovascular surgery at a university-affiliated tertiary care center.Results
Through a median follow-up period of 45 months (interquartile range, 20-81 months), 245 patients (69%) died. We observed an increase in mortality with increasing duration of ECMO support. The association between increased duration of ECMO support and mortality persisted in patients who survived ECMO support with a crude hazard ratio of 1.96 (95% confidence interval, 1.40-2.74; P < .001) for 2-year mortality compared with the third tertile and the second tertile of ECMO duration. This effect was even more pronounced after multivariate adjustment using a bootstrap-selected confounder model with an adjusted hazard ratio of 2.30 (95% confidence interval, 1.52-3.48; P < .001) for 2-year long-term mortality.Conclusions
Prolonged venoarterial ECMO support is associated with poor outcome in adult patients after cardiovascular surgery. Our data suggest reevaluation of therapeutic strategies after 7 days of ECMO support because mortality disproportionally increases afterward. 相似文献998.
Tobias Schmidt Patrik Roser Georg Juckel Martin Brüne Boris Suchan Patrizia Thoma 《Journal of clinical and experimental neuropsychology》2016,38(9):974-990
Background: Up to now, little is known about higher order cognitive abilities like social cognition and social problem solving abilities in alcohol-dependent patients. However, impairments in these domains lead to an increased probability for relapse and are thus highly relevant in treatment contexts. Method: This cross-sectional study assessed distinct aspects of social cognition and social problem solving in 31 hospitalized patients with alcohol use disorder (AUD) and 30 matched healthy controls (HC). Three ecologically valid scenario-based tests were used to gauge the ability to infer the mental state of story characters in complicated interpersonal situations, the capacity to select the best problem solving strategy among other less optimal alternatives, and the ability to freely generate appropriate strategies to handle difficult interpersonal conflicts. Standardized tests were used to assess executive function, attention, trait empathy, and memory, and correlations were computed between measures of executive function, attention, trait empathy, and tests of social problem solving. Results: AUD patients generated significantly fewer socially sensitive and practically effective solutions for problematic interpersonal situations than the HC group. Furthermore, patients performed significantly worse when asked to select the best alternative among a list of presented alternatives for scenarios containing sarcastic remarks and had significantly more problems to interpret sarcastic remarks in difficult interpersonal situations.
Conclusions: These specific patterns of impairments should be considered in treatment programs addressing impaired social skills in individuals with AUD. 相似文献
999.