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91.
Ambroise Wonkam Jean Jacques N. Noubiap François Djomou Karen Fieggen Richard Njock Geneviève Bengono Toure 《European journal of medical genetics》2013,56(1):20-25
BackgroundSevere hearing loss is a global problem affecting particularly developing countries. There is scarcity of recent published data on the epidemiology of childhood deafness in sub-Saharan Africa.ObjectiveTo determine the etiological profile of severe childhood deafness in Cameroon.MethodsProspective cross-sectional study of patients with a severe hearing loss that started before the age of 15 years. Detailed family and medical history was obtained; careful clinical, otological and audiological examinations were performed.ResultsA total of 582 patients with a severe hearing loss were examined. Prelingual deafness accounted for 75.1% (n = 437), with a mean age at medical diagnosis of 3.3 ± 1.2 years. This late presentation may be explained by limited parental awareness of signs raising suspicion of hearing loss, poor access to health care and the absence of neonatal screening for hearing loss in Cameroon. Identified genetic causes accounted for 14.8% (n = 86), putative environmental causes for 52.6% (n = 306) and unknown causes for 32.6% (n = 190). Amongst Genetic causes, the syndromic hearing loss accounted for 13.1% (n = 12) of cases, the rest being non syndromic (n = 74). Consanguineous families accounted for 5.7% (n = 33) of the whole sample, and 15.1% (n = 13) of genetic cases. No union between deaf parents was observed.ConclusionThese data highlight the possible predominance of putative environmental causes of childhood deafness in Cameroon, and emphasize the need for improved policies for prevention of infectious diseases and for neonatal hearing screening. However, further molecular analyses and targeted CT scan investigations are required to more accurately gauge the contribution of genetics etiologies. 相似文献
92.
93.
Murray Baron Lorinda Chung Geneviève Gyger Laura Hummers Dinesh Khanna Maureen D. Mayes Janet E. Pope Ami A. Shah Virginia D. Steen Russell Steele Solène Tatibouet Ariane Herrick Ulf Müller-Ladner Marie Hudson 《Clinical rheumatology》2014,33(2):207-214
The objectives of this study were to develop a standard classification of digital ulcers (DUs) in systemic sclerosis (SSc) for use in observational or therapeutic studies and to assess the reliability of these definitions as well as of the measurement of ulcer area. Ten North American rheumatologists with expertise in SSc reviewed multiple photos of DUs, examined four SSc subjects with DUs, and came to a consensus on the definitions for digital, active, healed, and indeterminate ulcers. These ten raters then examined the right hand of ten SSc subjects twice and the left hand once to classify ulcers and to measure ulcer area. Weighted and Fleiss kappa were used to calculate intra- and interrater agreement on classification of ulcers, and intraclass correlation coefficient (ICC) was used to assess agreement on ulcer area. Because the traditional ICC calculations relied on a small number of ulcers, ICCs were recalculated using the results of linear mixed models to evaluate the variance components of observations on all the data. Intrarater kappa for classifying DU as not an ulcer/healed ulcer versus active/indeterminate ulcer was substantial (0.76), and interrater kappa was moderate (0.53). The ICC for ulcer area using the linear mixed models was moderate both for intrarater (0.57) and interrater (0.48) measurements. A consensus for the classification of DUs in SSc was developed, and after a training session, rheumatologists with expertise in SSc are able to reliably classify DUs and to measure ulcer area. 相似文献
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95.
Astrid Godron Jér?me Harambat Valérie Boccio Anne Mensire Adrien May Claire Rigothier Lionel Couzi Benoit Barrou Michel Godin Dominique Chauveau Stanislas Faguer Marion Vallet Pierre Cochat Philippe Eckart Geneviève Guest Vincent Guigonis Pascal Houillier Anne Blanchard Xavier Jeunemaitre Rosa Vargas-Poussou 《Clinical journal of the American Society of Nephrology》2012,7(5):801-809
96.
Christelle Jost Béatrice Bercot Hervé Jacquier Laurent Raskine Emmanuel Barranger Geneviève Mouchnino Emmanuelle Cambau 《Journal of clinical microbiology》2014,52(2):657-659
The Xpert GBS real-time PCR assay was applied to gastric fluid samples from 143 newborns, and it detected group B streptococcus (GBS) within 1 h for 16 (11.2%) cases, while microscopic examination detected only 2 cases. The sensitivity and specificity of the Xpert GBS were 80% and 100%, respectively, with regard to 20 cases of GBS colonization or infection. Concordance of Xpert GBS results versus culture was 92.3%. This test detects in a timely manner newborns at risk for invasive GBS disease. 相似文献
97.
Hermida JS Kubala M Lescure FX Delonca J Clerc J Otmani A Jarry G Rey JL 《American heart journal》2004,148(2):312-317
Background
In order to assess the preventive effects of right atrial septal pacing on atrial fibrillation (AF) in patients with sinus node dysfunction, we conducted a prospective randomized controlled study in patients requiring atrial pacing.Methods
The inclusion criterion was the presence of a sinus node dysfunction with or without episodes of AF. Pacing sites were randomized to either the right atrial septum or appendage. Patients with permanent AF or with atrioventricular (AV) block without sinus node dysfunction were excluded. Patients were discharged at a pacing rate of 65 beats per minute after setting of the optimal AV delay. The antiarrhythmic therapy remained unchanged until the first recurrence of AF. Sequential analyses were performed with the triangular test.Results
Mean baseline characteristics were not different between the septum (n = 57) and the appendage (n = 67) groups. The triangular test evidenced a lack of effect of septal pacing at the last sequential analysis. The rates of AF-free survival were not different between the septum and the appendage group (65% vs 64%, P = .28).In the subgroup of patients with at least 1 episode of AF 3 months before pacing, AF-free survival was increased by atrial septal pacing (70% vs 40%, P = .018). The mean follow-up was 16 ± 13 months (range, 1-54).Conclusions
Atrial septal pacing does not have a preventive effect on the occurrence of AF in patient requiring atrial pacing for sinus node dysfunction. Subgroup analysis suggests that atrial septal pacing may benefit patients with ≥1 episode of AF in the 3 months preceding pacing. 相似文献98.
The mechanisms linking diabetes to plaque rupture and thrombotic occlusion remain largely speculative, yet matrix metalloproteinases (MMP) and endothelial apoptosis may represent central elements. Binding of oxidized low-density lipoprotein (oxLDL) to endothelial lectin-like oxidized LDL receptor-1 (LOX-1) induces oxidative stress, MMP expression and apoptosis. In the present study, we examined the effect of gliclazide, a second generation sulfonylurea with antioxidant properties, on LOX-1 expression and LOX-1-mediated MMP-9 expression and apoptosis in oxLDL-treated human aortic endothelial cells (HAECs). Incubation of HAECs with oxLDL increased LOX-1 expression and enhanced MMP-9 production by these cells. Treatment with an anti-LOX-1 antibody or with antioxidants, including gliclazide, inhibited these effects. Induction of LOX-1 and LOX-1-mediated MMP-9 production involved endothelin-1 production and nuclear factor-kappaB activation. These biological parameters were inhibited by gliclazide and anti-LOX-1 antibody treatment. In HAECs, oxLDL induced apoptosis, an effect associated with reduced protein kinase B (PKB) activity. Anti-LOX-1 antibody, antioxidants including gliclazide, as well as caspase inhibitors prevented oxLDL-induced apoptosis. The anti-apoptotic effect of gliclazide was associated with an increase in PKB activity and a decrease in caspase-3 and -9 activities. These results demonstrate that gliclazide inhibits endothelial LOX-1 expression and prevents LOX-1-mediated proatherogenic effects associated with endothelial dysfunction and plaque rupture. 相似文献
99.
Iris Schuster Gilbert Habib Christophe Jego Franck Thuny Jean-Fran?ois Avierinos Geneviève Derumeaux Lionel Beck Christine Medail Frederic Franceschi Sebastien Renard Ange Ferracci Jean Lefevre Roger Luccioni Jean-Claude Deharo Pierre Djiane 《Journal of the American College of Cardiology》2005,46(12):2250-2257
OBJECTIVES: To compare the incidence of diastolic and systolic asynchrony, assessed by tissue Doppler imaging (TDI), in patients with congestive heart failure (CHF) and severe left ventricular (LV) dysfunction, and to assess TDI changes induced by cardiac resynchronization therapy (CRT). BACKGROUND: Thirty percent of CRT candidates are nonresponders. Besides QRS width, the presence of echographic systolic asynchrony has been used to identify future responders. Little is known about diastolic asynchrony and its change after CRT. METHODS: Tissue Doppler imaging was performed in 116 CHF patients (LV ejection fraction 26 +/- 8%). Systolic and diastolic asynchrony was calculated using TDI recordings of right ventricular and LV walls. RESULTS: The CHF group consisted of 116 patients. Diastolic asynchrony was more frequent than systolic, concerning both intraventricular (58% vs. 47%; p = 0.0004) and interventricular (72 vs. 45%; p < 0.0001) asynchrony. Systolic and diastolic asynchrony were both present in 41% patients, but one-third had isolated diastolic asynchrony. Although diastolic delays increased with QRS duration, 42% patients with narrow QRS presented with diastolic asynchrony. Conversely, 27% patients with large QRS had no diastolic asynchrony. Forty-two patients underwent CRT. Incidence of systolic intraventricular asynchrony decreased from 71% to 33% after CRT (p < 0.0001), but diastolic asynchrony decreased only from 81% to 55% (p < 0.0002). Cardiac resynchronization therapy induced new diastolic asynchrony in eight patients. CONCLUSIONS: Diastolic asynchrony is weakly correlated with QRS duration, is more frequent than systolic asynchrony, and may be observed alone. Diastolic asynchrony is less improved by CRT than systolic. Persistent diastolic asynchrony may explain some cases of lack of improvement after CRT despite good systolic resynchronization. 相似文献
100.
M��lanie Lacasse Genevi��ve Dufresne Emilie Jolicoeur Luc Rochon Charles Sabbagh Jocelyn Deneault Val��rie Walsh Isabelle Gaboury Philip Hassard 《Journal canadien de gastroenterologie》2010,24(6):365-368