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101.
BackgroundNonpharmacologic clinical management practices have not been studied widely in heart failure (HF). The purpose of this survey was to describe the practices of self-identified experts in HF to identify: topics with uniformity of practice (≥75% agreement) and topics with variability in practice (no uniformity and 2 or more choices endorsed by ≥10% of respondents).Methods and ResultsAn online survey of members of the Heart Failure Society of America (HFSA) actively engaged in clinical practice was conducted in Fall 2004. A total of 347 of the 1420 HFSA members in clinical practice (24.4%) responded to the survey. Of these, 321 completed the survey and 290 (90.3%) identified themselves as experts in HF. Areas in which there appears to be variability in practice include advising patients about: (1) sodium-restricted diet; (2) alcohol; (3) sexual activity; (4) increased swelling or weight gain, including use of a flexible diuretic regimen; and (5) palliative care. Providers vary in their treatment of risk factors and comorbid illnesses, the attention given to subtle losses of weight over time, beliefs about treatment adherence and ways to improve it, and opinions about the most important areas for patient education, and beliefs about health literacy.ConclusionResearch on which to base advice for HF patients is greatly needed.  相似文献   
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Pinpointing culprit causal variants along signal peaks of genome-wide association studies (GWAS) is challenging. To overcome confounding effects of multiple independent variants at such a locus and narrow the interval for causal allele capture, we developed an approach that maps local shared haplotypes harboring a putative causal variant. We demonstrate our method in an extreme isolate founder population, the pacific Island of Kosrae. We analyzed plasma plant sterol (PPS) levels, a surrogate measure of cholesterol absorption from the intestine, where previous studies have implicated 2p21 mutations in the ATP binding cassette subfamily G members 5 or 8 (ABCG5 or ABCG8) genes. We have previously reported that 11.1% of the islanders are carriers of a frameshift ABCG8 mutation increasing PPS levels in carriers by 50%. GWAS adjusted for this mutation revealed genomewide significant signals along 11 Mb around it. To fine-map this signal, we detected pairwise identity-by-descent haplotypes using our tool GERMLINE and implemented a clustering algorithm to identify haplotypes shared across multiple samples with their unique shared boundaries. A single 526-kb haplotype mapped strongly to PPS levels, dramatically refining the mapped interval. This haplotype spans the ABCG5/ABCG8 genes, is carried by 1.8% of the islanders, and results in a striking 100% increase of PPS in carriers. Resequencing of ABCG5 in these carriers found a D450H missense mutation along the associated haplotype. These findings exemplify the power of haplotype analysis for mapping mutations in isolated populations and specifically for dissecting effects of multiple variants of the same locus.  相似文献   
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During recent years a considerable improvement in diagnostic techniques has enabled cytogeneticists to find more and smaller chromosomal aberrations. However, accurate clinical knowledge about rare chromosome disorders is frequently lacking, mostly due to a significant decline in publishable cases. On the other hand, there is an increasing demand from parents and physicians for reliable information. In order to improve the quality and the quantity of data available, we designed a new database named the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA) at http://www.ecaruca.net. This Internet-database contains cytogenetic and clinical data of patients with rare chromosome abnormalities, including microscopically visible aberrations, as well as microdeletions and -duplications. Cases with certain breakpoints collected in the Zurich Cytogenetic Database were transferred to ECARUCA. The advantages of ECARUCA compared to existing sources are that ECARUCA is interactive, dynamic and has long-term possibilities to store cytogenetic, molecular and clinical data. Professionals can login to submit new cases and perform searches in the database through the Internet. Currently the database contains 1500 unique chromosomal aberrations from almost 4000 patients. A frequent submission of new data ensures the up-to-date quality of the collection. Individual parent accounts allow parents to inform the ECARUCA team about the follow-up of their child. The ECARUCA database provides health care workers with accurate information on clinical aspects of rare chromosome disorders. Additionally, detailed correlations between chromosome aberrations and their phenotypes are of invaluable help in localising genes for mental retardation and congenital anomalies.  相似文献   
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Self-care of heart failure (HF) is difficult to master, but the reasons why remain unclear. The purpose of this study was to explore how HF influences patients' lives, assess how they perform self-care, and determine how their life situation facilitates or impedes HF self-care. Qualitative data were obtained from 26 individuals with chronic HF. Data were gathered using structured interviews and analyzed using content analysis. Physical limitations, debilitating symptoms, difficulties coping with treatment, lack of knowledge, distressed emotions, multiple comorbidities, and personal struggles were common. Self-care involved the recognition of symptoms, but atypical symptoms such as faintness were rarely attributed to HF. Patients discussed their successes and failures in following dietary, exercise, and medication recommendations. Some adaptation strategies were practical and some involved internal resources. Many patients accepted support from others, but some withdrew. With the number of barriers these patients face, it is not surprising that self-care of HF is typically poor and that readmission rates continue to be high. Recommendations are provided for a stepped approach to patient education and counseling that uses these findings in practice.  相似文献   
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Objective

In hypertensive primary care patients below 65 years of age, (i) to describe the occurrence of undiagnosed obstructive sleep apnoea (OSA), and (ii) to identify the determinants of moderate/severe OSA.

Design

Cross-sectional.

Setting

Four primary care health centres in Sweden.

Patients

411 consecutive patients (52% women), mean age 57.9 years (SD 5.9 years), with diagnosed and treated hypertension (BP >140/90).

Main outcome measures

Occurrence of OSA as measured by the apnoea hypopnoea index (AHI).

Results

Mild (AHI 5–14.9/h) and moderate/severe (AHI > 15/h) OSA were seen among 29% and 30% of the patients, respectively. Comparing those without OSA with those with mild or moderate/severe OSA, no differences were found in blood pressure, pharmacological treatment (anti-hypertensive, anti-depressive, and hypnotics), sleep, insomnia symptoms, daytime sleepiness, or depressive symptoms. Obesity (BMI > 30 kg/m2) was seen in 30% and 68% of the patients with mild and moderate/severe OSA, respectively. Male gender, BMI > 30 kg/m2, snoring, witnessed apnoeas, and sleep duration >8 hours were determinants of obstructive sleep apnoea.

Conclusion

Previously undiagnosed OSA is common among patients with hypertension in primary care. Obesity, snoring, witnessed apnoeas, long sleep duration, and male gender were the best predictors of OSA, even in the absence of daytime sleepiness and depressive symptoms.Key Words: Depression, hypertension, obstructive sleep apnoea, sleep, sleep disordered breathing, snoringCurrent awareness:
  • Obstructive sleep apnoea has been linked to hypertension in sleep clinic populations, but there is a lack of knowledge regarding the occurrence in Swedish hypertensive primary care patients.
Main statements:
  • Undiagnosed mild and moderate/severe obstructive sleep apnoea was seen among 29% and 30% of patients, respectively.
  • Comparing subjects with mild or moderate/severe obstructive sleep apnoea with those without, no differences were found in blood pressure, self-rated sleep duration, insomnia, daytime sleepiness, or depressive symptoms.
  • Male gender, BMI > 30 kg/m00B2, snoring, witnessed apnoeas, and sleep duration >8 hours were determinants of moderate/severe obstructive sleep apnoea in hypertensive primary care patients.
  相似文献   
110.

Aim of the study

Vitek-2™ AIX versus Vitek-2™ PC have different rules for phenotypic interpretation. The aim of this study is to ensure that the raw results determined by these two versions of Vitek-2™ allow biologists to conclude to the same resistance phenotype, but also to evaluate their own phenotypic interpretation system (advanced expert system).

Material and methods

A total of 251 strains of Enterobacteriaceae of different groups and phenotypes was tested. Each strain was studied simultaneously on both types of Vitek-2™ from the same calibrated inoculum. We then compared their resistance phenotype to beta-lactams.

Results

For strains not producing ESBL or CHN, the biologist concluded in 99.3% of cases to the same resistance phenotype by interpreting the raw results of Vitek-2™ AIX versus PC. The phenotypic interpretation of biologist is different from the Vitek-2™ in respectively 40% versus 43% of cases for AIX and PC versions. For multi-resistant strains, the biologist concluded in 100% of cases to the same resistance phenotype by interpreting the raw results of Vitek-2™ AIX versus PC. In 51.5% of cases the biologist use the disk diffusion method (DD). The results of this technique put forward 29% discrepancy with the two types of Vitek-2™. Finally, when Vitek-2™ claims the presence of an ESBL alone, this result is routinely confirmed by DD.

Conclusion

The switch fromVitek-2™ AIX to Vitek-2™ PC does not alter the results of the phenotypic interpretation of biologist.  相似文献   
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