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排序方式: 共有349条查询结果,搜索用时 15 毫秒
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Tom Rossenbacker MD Sheila J. Carroll MD Huajun Liu MD Cuno Kuipri Thomy J.L. de Ravel FCP Koen Devriendt MD PhD Peter Carmeliet MD PhD Robert S. Kass PhD Hein Heidbüchel MD PhD 《Heart rhythm》2004,1(5):611-615
OBJECTIVES: The purpose of this study was to determine the clinical and biophysical characteristics of a novel SCN5A mutation. BACKGROUND: Brugada syndrome and isolated cardiac conduction defect have been linked to SCN5A mutations. METHODS: Eleven members of a western European family underwent electrophysiologic investigations and mutation analysis of the SCN5A gene. Wild-type and mutant SCN5A channels were expressed in HEK293 cells, and whole cell currents were studied using patch clamp procedures. RESULTS: A novel mutation, R376H, in the first pore segment of SCN5A variably causes Brugada syndrome and/or conduction disease in a single family. Biophysical analysis demonstrated a significant current reduction for the mutant, a pathophysiologic profile consistent with Brugada syndrome and isolated cardiac conduction defect. Among 11 family members, 9 were carriers of the mutation. The proband's initial presentation was a saddleback Brugada ECG, atrial flutter, and diffuse conduction disturbances. He had no inducible ventricular arrhythmias but experienced sudden cardiac death. His brother was affected by atrial flutter and had a clear conduction disorder, but he did not display baseline or evocable ECG signs of Brugada syndrome. He received an implantable cardioverter-defibrillator that delivered one appropriate shock after 1 year of follow-up. The phenotype in the family members was highly variable and ranged from noninducible and inducible asymptomatic carriers of the mutations to isolated conduction disease and to symptomatic Brugada syndrome. CONCLUSIONS: We describe the functional characterization of a novel SCN5A pore mutation, R376H, with variable clinical expression in the same family. Differentiating between electrophysiologic entities (Brugada syndrome-isolated cardiac conduction defect) is more challenging. Recognition of factors modifying the clinical presentation may be important for clinical decision making. 相似文献
3.
Jan Stulik Tobias Rainer Pitzen Jan Chrobok Sabine Ruffing Jörg Drumm Laurentius Sova Ravel Kucera Tomas Vyskocil Wolf Ingo Steudel 《European spine journal》2007,16(10):1689-1694
Anterior cervical plate fixation is an approved surgical technique for cervical spine stabilization in the presence of anterior
cervical instability. Rigid plate design with screws rigidly locked to the plate is widely used and is thought to provide
a better fixation for the treated spinal segment than a dynamic design in which the screws may slide when the graft is settling.
Recent biomechanical studies showed that dynamic anterior plates provide a better graft loading possibly leading to accelerated
spinal fusion with a lower incidence of implant complications. This, however, was investigated in vitro and does not necessarily
mean to be the case in vivo, as well. Thus, the two major aspects of this study were to compare the speed of bone fusion and
the rate of implant complications using either rigid- or dynamic plates. The study design is prospective, randomized, controlled,
and multi-centric, having been approved by respective ethic committees of all participating sites. One hundred and thirty-two
patients were included in this study and randomly assigned to one of the two groups, both undergoing routine level-1- or level-2
anterior cervical discectomy with autograft fusion receiving either a dynamic plate with screws being locked in ap - position
(ABC, Aesculap, Germany), or a rigid plate (CSLP, Synthes, Switzerland). Segmental mobility and implant complications were
compared after 3- and 6 months, respectively. All measurements were performed by an independent radiologist. Mobility results
after 6 months were available for 77 patients (43 ABC/34 CSLP). Mean segmental mobility for the ABC group was 1.7 mm at the
time of discharge, 1.4 mm after 3 months, and 0.8 mm after 6 months. For the CSLP- group the measurements were 1.0, 1.8, and
1.7 mm, respectively. The differences of mean segmental mobility were statistically significant between both groups after
6 months (P = 0.02). Four patients of the CSLP-group demonstrated surgical hardware complications, whereas no implant complications were
observed within the ABC-group (P = 0.0375). Dynamic plate designs provided a faster fusion of the cervical spine compared with rigid plate designs after prior
spinal surgery. Moreover, the rate of implant complications was lower within the group of patients receiving a dynamic plate.
These interim results refer to a follow-up period of 6 months after prior spinal surgery. Further investigations will be performed
2 years postoperatively. 相似文献
4.
J. Tamarelle A.C.M. Thiébaut B. de Barbeyrac C. Bébéar J. Ravel E. Delarocque-Astagneau 《Clinical microbiology and infection》2019,25(1):35-47
Background
The vaginal microbiota may modulate susceptibility to human papillomavirus (HPV), Chlamydia trachomatis, Neisseria gonorrhoeae and Mycoplasma genitalium infections. Persistent infection with a carcinogenic HPV is a prerequisite for cervical cancer, and C. trachomatis, N. gonorrheae and M. genitalium genital infections are all associated with pelvic inflammatory disease and subsequent infertility issues.Objectives
To evaluate the association between these infections and the vaginal microbiota.Data sources
The search was conducted on Medline and the Web of Science for articles published between 2000 and 2016.Study eligibility criteria
Inclusion criteria included a measure of association for vaginal microbiota and one of the considered STIs, female population, cohort, cross-sectional and interventional designs, and the use of PCR methods for pathogen detection.Methods
The vaginal microbiota was dichotomized into high-Lactobacillus vaginal microbiota (HL-VMB) and low-Lactobacillus vaginal microbiota (LL-VMB), using either Nugent score, Amsel's criteria, presence of clue cells or gene sequencing. A random effects model assuming heterogeneity among the studies was used for each STI considered.Results
The search yielded 1054 articles, of which 39 met the inclusion criteria. Measures of association with LL-VMB ranged from 0.6 (95% CI 0.3–1.2) to 2.8 (95% CI 0.3–28.0), 0.7 (95% CI 0.4–1.2) to 5.2 (95% CI 1.9–14.8), 0.8 (95% CI 0.5–1.4) to 3.8 (95% CI 0.4–36.2) and 0.4 (95% CI 0.1–1.5) to 6.1 (95% CI 2.0–18.5) for HPV, C. trachomatis, N. gonorrhoeae and M. genitalium infections, respectively.Conclusions
Although no clear trend for N. gonorrhoeae and M. genitalium infections could be detected, our results support a protective role of HL-VMB for HPV and C. trachomatis. Overall, these findings advocate for the use of high-resolution characterization methods for the vaginal microbiota and the need for longitudinal studies to lay the foundation for its integration in prevention and treatment strategies. 相似文献5.
de Ravel TJ Taylor IB Van Oostveldt AJ Fryns JP Wilkie AO 《European journal of human genetics : EJHG》2005,13(4):503-505
We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance. Our observations expand both the clinical and molecular spectrum of this unusual subset of FGFR2 mutations. 相似文献
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7.
Ravel C Letur H Le Lannou D Barthélémy C Bresson JL Siffroi JP;Genetics Commission of the French Federation of CECOS 《Fertility and sterility》2007,87(2):439-441
Oocyte donors are chosen among phenotypically normal and fertile women who are not expected to carry any chromosomal abnormality. A high incidence of balanced structural chromosomal rearrangements has been found within oocyte donors. This result raises the question of a possible bias in their recruitment with respect to their familial background and/or personal reproductive history. 相似文献
8.
9.
Connie M. Rhee Kamyar Kalantar-Zadeh Vanessa Ravel Elani Streja Amy S. You Steven M. Brunelli Danh V. Nguyen Gregory A. Brent Csaba P. Kovesdy 《Mayo Clinic proceedings. Mayo Clinic》2018,93(5):573-585
Objective
Given that patients with non–dialysis-dependent chronic kidney disease (NDD-CKD) have a disproportionately higher prevalence of hypothyroidism compared with their non-CKD counterparts, we sought to determine the association between thyroid status, defined by serum thyrotropin (TSH) levels, and mortality among a national cohort of patients with NDD-CKD.Patients and Methods
Among 227,422 US veterans with stage 3 NDD-CKD with 1 or more TSH measurements during the period October 1, 2004, to September 30, 2012, we first examined the association of thyroid status, defined by TSH categories of less than 0.5, 0.5 to 5.0 (euthyroidism), and more than 5.0 mIU/L, with all-cause mortality. We then evaluated 6 granular TSH categories: less than 0.1, 0.1 to less than 0.5, 0.5 to less than 3.0, 3.0 to 5.0, more than 5.0 to 10.0, and more than 10.0 mIU/L. We concurrently examined thyroid status, thyroid-modulating therapy, and mortality in sensitivity analyses.Results
In expanded case-mix adjusted Cox analyses, compared with euthyroidism, baseline and time-dependent TSH levels of more than 5.0 mIU/L were associated with higher mortality (adjusted hazard ratios [aHRs] [95% CI], 1.19 [1.15-1.24] and 1.23 [1.19-1.28], respectively), as were baseline and time-dependent TSH levels of less than 0.5 mIU/L (aHRs [95% CI], 1.18 [1.15-1.22] and 1.41 [1.37-1.45], respectively). Granular examination of thyroid status showed that incrementally higher TSH levels of 3.0 mIU/L or more were associated with increasingly higher mortality in baseline and time-dependent analyses, and TSH categories of less than 0.5 mIU/L were associated with higher mortality (reference, 0.5-<3.0 mIU/L) in baseline analyses. In time-dependent analyses, untreated and undertreated hypothyroidism and untreated hyperthyroidism were associated with higher mortality (reference, spontaneous euthyroidism), whereas hypothyroidism treated-to-target showed lower mortality.Conclusion
Among US veterans with NDD-CKD, high-normal TSH (≥3.0 mIU/L) and lower TSH (<0.5 mIU/L) levels were associated with higher death risk. Interventional studies identifying the target TSH range associated with the greatest survival in patients with NDD-CKD are warranted. 相似文献10.
Crutel Véronique Lambert Estelle Penelaud Pierre-François Albarrán Severo Cristina Fuentes Joaquin Rosier Antoine Hervás Amaia Marret Stéphane Oliveira Guiomar Parellada Mara Kyaga Simon Gouttefangeas Sylvie Bertrand Marianne Ravel Denis Falissard Bruno 《Journal of autism and developmental disorders》2021,51(8):2973-2973
Journal of Autism and Developmental Disorders - The author of the article would like to add a video abstract as a supplementary material for a published article. The supplementary file is published... 相似文献