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Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family 总被引:3,自引:0,他引:3
Fagerheim T; Nilssen O; Raeymaekers P; Brox V; Moum T; Elverland HH; Teig E; Omland HH; Fostad GK; Tranebjaerg L 《Human molecular genetics》1996,5(8):1187-1191
Hereditary hearing impairment affects about 1 in 1000 newborns. In most
cases hearing loss is non-syndromic with no other clinical features, while
in other families deafness is associated with specific clinical
abnormalities. Analysis of large families with non-syndromic and syndromic
deafness have been used to identify genes or gene locations that cause
hearing impairment. The present report describes a large Norwegian family
with autosomal dominant non-syndromic, progressive high tone hearing loss
with linkage to 1q21-q23. A maximum LOD score of 7.65 (theta = 0.00) was
obtained with the microsatellite marker D1S196. Analysis of recombinant
individuals maps the deafness gene (DFNA7) to a 22 cM region between D1S104
and D1S466. The region contains several attractive candidate genes. This
report supports the idea of extensive genetic heterogeneity in hereditary
hearing impairment and represents the first localization of a deafness gene
in a Norwegian family.
相似文献
5.
Russell EJ; Geremia GK; Johnson CE; Huckman MS; Ramsey RG; Washburn-Bleck J; Turner DA; Norusis M 《Radiology》1987,165(3):609-617
Sixteen patients with suspected cerebral metastases were studied with magnetic resonance (MR) imaging before and after the intravenous administration of 0.1 mmol/kg of gadolinium diethylenetriaminepenta-acetic acid. The images were interpreted blindly by two neuroradiologists; all clinical, radiologic (computed tomographic and MR imaging), and pathologic data were reviewed to arrive at a final "best diagnosis," which was then compared with the prior blinded interpretations. Of seven patients found to have multiple metastases, six (86%) had at least one tumor nodule depicted by postinfusion MR imaging that was missed by one or both observers on review of preinfusion images alone. Lesions missed on preinfusion studies were usually small nodules hidden by or not detected next to regions of high-signal edema thought to be related to the adjacent tumor nodule. The authors believe that contrast enhancement improves detection of metastatic foci with MR imaging and that the findings indicate broader implications for the detection of multiple lesions from other causes. 相似文献
6.
RAJVIR BHALWAR HS SANDHU RC AHUJA GK SINGH RP MISRA 《Medical Journal Armed Forces India》1994,50(3):175-180
A population based hybrid design combining element of cohort and cross-sectional approach was used to develop a simple clinical algorithm to predict individual probability of developing hypertension (systolic BP > 140 mm Hg and/or diastolic BP > 90 mmHg). 3615 soldiers initially normotensive at the time of induction into high altitude, were studied by systematic random sampling. Multiple logistic regression analysis showed a high significant association between hypertension and age, body mass index (BMI), tobacco smoking and alcohol consumption. Using the constant/coefficient values obtained from the logistic model and the receiver operating characteristics (ROC) curve analysis, the following predictive rule was developed – To the age in years, add (BMIx 3.86); also add 5.53 if he is a smoker; and add 19.81 if he consumes alcohol. If the total exceeds 142, the individual is at high risk of developing hypertension. This algorithm carries a sensitivity of 68.2% and specificity of 78.5%.KEY WORDS: Hypertension, High altitude 相似文献
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Glyn Elwyn Isabelle Scholl Caroline Tietbohl Mala Mann Adrian GK Edwards Catharine Clay France Légaré Trudy van der Weijden Carmen L Lewis Richard M Wexler Dominick L Frosch 《BMC medical informatics and decision making》2013,13(Z2):S14
Background
Two decades of research has established the positive effect of using patient-targeted decision support interventions: patients gain knowledge, greater understanding of probabilities and increased confidence in decisions. Yet, despite their efficacy, the effectiveness of these decision support interventions in routine practice has yet to be established; widespread adoption has not occurred. The aim of this review was to search for and analyze the findings of published peer-reviewed studies that investigated the success levels of strategies or methods where attempts were made to implement patient-targeted decision support interventions into routine clinical settings.Methods
An electronic search strategy was devised and adapted for the following databases: ASSIA, CINAHL, Embase, HMIC, Medline, Medline-in-process, OpenSIGLE, PsycINFO, Scopus, Social Services Abstracts, and the Web of Science. In addition, we used snowballing techniques. Studies were included after dual independent assessment.Results
After assessment, 5322 abstracts yielded 51 articles for consideration. After examining full-texts, 17 studies were included and subjected to data extraction. The approach used in all studies was one where clinicians and their staff used a referral model, asking eligible patients to use decision support. The results point to significant challenges to the implementation of patient decision support using this model, including indifference on the part of health care professionals. This indifference stemmed from a reported lack of confidence in the content of decision support interventions and concern about disruption to established workflows, ultimately contributing to organizational inertia regarding their adoption.Conclusions
It seems too early to make firm recommendations about how best to implement patient decision support into routine practice because approaches that use a ‘referral model’ consistently report difficulties. We sense that the underlying issues that militate against the use of patient decision support and, more generally, limit the adoption of shared decision making, are under-investigated and under-specified. Future reports from implementation studies could be improved by following guidelines, for example the SQUIRE proposals, and by adopting methods that would be able to go beyond the ‘barriers’ and ‘facilitators’ approach to understand more about the nature of professional and organizational resistance to these tools. The lack of incentives that reward the use of these interventions needs to be considered as a significant impediment.9.
Performance of Antinuclear Antibodies for Classifying Systemic Lupus Erythematosus: A Systematic Literature Review and Meta‐Regression of Diagnostic Data 下载免费PDF全文
Nicolai Leuchten Annika Hoyer Ralph Brinks Monika Schoels Matthias Schneider Josef Smolen Sindhu R. Johnson David Daikh Thomas Dörner Martin Aringer George Bertsias the Systemic Lupus Erythematosus Classification Criteria Steering Committee 《Arthritis care & research》2018,70(3):428-438
Objective
To review the published literature on the performance of indirect immunofluorescence (IIF)–HEp‐2 antinuclear antibody (ANA) testing for classification of systemic lupus erythematosus (SLE).Methods
A systematic literature search was conducted in the Medline, Embase, and Cochrane databases for articles published between January 1990 and October 2015. The research question was structured according to Population, Intervention, Comparator, Outcome (PICO) format rules, and Preferred Reporting Items for Systematic Reviews and Meta‐Analyses (PRISMA) recommendations were followed where appropriate. Meta‐regression analysis for diagnostic tests was performed, using the ANA titer as independent variable, while sensitivity and specificity were dependent variables.Results
Of 4,483 publications screened, 62 matched the eligibility criteria, and another 2 articles were identified through reference analysis. The included studies comprised 13,080 SLE patients in total, of whom 12,542 (95.9%) were reported to be IIF‐ANA positive at various titers. For ANA at titers of 1:40, 1:80, 1:160, and 1:320, meta‐regression gave sensitivity values of 98.4% (95% confidence interval [95% CI] 97.6–99.0%), 97.8% (95% CI 96.8–98.5%), 95.8% (95% CI 94.1–97.1%), and 86.0% (95% CI 77.0–91.9%), respectively. The corresponding specificities were 66.9% (95% CI 57.8–74.9%), 74.7% (95% CI 66.7–81.3%), 86.2% (95% CI 80.4–90.5%), and 96.6% (95% CI 93.9–98.1%), respectively.Conclusion
The results of this systematic literature review and meta‐regression confirm that IIF‐ANAs have high sensitivity for SLE. ANAs at a titer of 1:80 have sufficiently high sensitivity to be considered as an entry criterion for SLE classification criteria, i.e., formally test other classification criteria for SLE only if ANAs of at least 1:80 have been found.10.
Infliximab treatment for rheumatoid arthritis, with dose titration based on the Disease Activity Score: dose adjustments are common but not always sufficient to assure sustained benefit 下载免费PDF全文
Sidiropoulos P Bertsias G Kritikos HD Kouroumali H Voudouris K Boumpas DT 《Annals of the rheumatic diseases》2004,63(2):144-148
BACKGROUND: Randomised controlled trials have shown that treatment with anti-tumour necrosis factor (anti-TNF) agents is effective in refractory rheumatoid arthritis (RA). OBJECTIVE: To determine the effectiveness of anti-TNF in a general unselected group of patients with refractory RA. METHODS: 68 patients with active RA despite treatment with disease modifying antirheumatic drugs were studied during 12 infliximab infusions. Infliximab (3 mg/kg/infusion) was given every 8 or 6 weeks. Clinical efficacy was assessed by the Disease Activity Score (DAS) index (44 joints). Dose adjustments were based on residual disease activity (DAS score >2.4). The primary end points were the percentage of patients achieving good or moderate response by the EULAR response criteria and the proportion of patients requiring dose adjustment. RESULTS: 20 (29%) patients discontinued treatment owing to side effects, early inefficacy, or other considerations. Among the patients who continued treatment, 27 (56%) and 32 (67%) were responders on the 6th and 12th infliximab infusion, respectively. In the same patients, disease activity gradually improved without modifications in the initial dosing in 10 (21%), whereas in 38 (79%) the dose of infliximab and/or methotrexate was increased. Intensification of treatment led to a significant decrease in the mean DAS score in this group (from 5.27 just before dose modification to 4.54 before the 12th infusion, p<0.002). The EULAR response category improved in only 10/38 (26%), however. CONCLUSIONS: In this initial observational study of patients with RA treated with recommended doses of infliximab, adjustments in treatment were common but not always sufficient to maintain adequate disease control. Longitudinal controlled trials are needed to define the optimal dose escalation in patients with suboptimal response. 相似文献