Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia.
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Congenital afibrinogenemia is a rare, autosomal, recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations in a nonconsanguineous Swiss family; the 4 affected persons have homozygous deletions of approximately 11 kb of the fibrinogen alpha (FGA) gene. Haplotype data implied that these deletions occurred on distinct ancestral chromosomes, suggesting that this region may be susceptible to deletion by a common mechanism. We subsequently showed that all the deletions were identical to the base pair and probably resulted from a nonhomologous recombination mediated by 7-bp direct repeats. In this study, we have collected data on 13 additional unrelated patients to identify the causative mutations and to determine the prevalence of the 11-kb deletion. A common recurrent mutation, at the donor splice site of FGA intron 4 (IVS4 + 1 G > T), accounted for 14 of the 26 (54%) alleles. One patient was heterozygous for the previously identified deletion. Three more frameshift mutations, 2 nonsense mutations, and a second splice site mutation were also identified. Consequently, 86% of afibrinogenemia alleles analyzed to date have truncating mutations of FGA, though mutations in all 3 fibrinogen genes, FGG, FGA, and FGB, might be predicted to cause congenital afibrinogenemia. (+info)
Interpretations and variations of ISO 9000 in acute health care. International Organization for Standardization.
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OBJECTIVE: This paper aims to address two questions related to the implementation of the ISO 9000 Quality Management System standard in the acute health care sector: which countries have developed specific nationwide guidelines/interpretations? and what variances exist between the different interpretations of the ISO 9002 standard? DESIGN: The study was carried out via an assessment of the available guideline documents for the use of ISO 9000 in the acute health care sector. The interpretation of each document was examined for common elements and deviations from the commonly agreed terms. SETTING: Worldwide in the acute health care sector (excluding that of laboratories). STUDY PARTICIPANTS: Eighty-two international ISO members and/or quality health care organizations. RESULTS: The results showed variation in the interpretations of the ISO 9000 standard. In total, 16 of the clauses/subclauses note distinct variations, between one or more of the documents, which could alter the perception of the system. CONCLUSION: From examination of the six identified guideline documents, the claim that ISO 9000 introduces quality systems which are comparable from one country to another is unfounded in the acute health care sector. (+info)
Validity of annoyance scores for estimation of long term air pollution exposure in epidemiologic studies: the Swiss Study on Air Pollution and Lung Diseases in Adults (SAPALDIA).
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In air pollution epidemiology, estimates of long term exposure are often based on measurements made at one fixed site monitor per area. This may lead to exposure misclassification. The present paper validates a questionnaire-based indicator of ambient air pollution levels and its applicability to assess their within-area variability. Within the framework of the SAPALDIA (Swiss Study on Air Pollution and Lung Diseases in Adults) cross-sectional study (1991), 9,651 participants reported their level of annoyance caused by air pollution on an 11-point scale. This subjective measure was compared with annual mean concentrations of particulate matter less than 10 microm in diameter (PM10) and nitrogen dioxide. The impact of individual factors on reported scores was evaluated. Nitrogen dioxide concentrations at home outdoors (measured in 1993), smoking, workplace dust exposure, and respiratory symptoms were found to be predictors of individual annoyance scores. Regression of population mean annoyance scores against annual mean PM10 and nitrogen dioxide concentrations (measured in 1993 and 1991, respectively) across areas showed a linear relation and strong correlations (r>0.85). Analysis within areas yielded consistent results. The observed associations between subjective and objective air pollution exposure estimates suggest that population mean scores, but not individual scores, may serve as a simple tool for grading air quality within areas. Reported annoyance due to air pollution should be considered an indicator for a complex environmental condition and thus might be used for evaluating the implementation of environmental policies. (+info)
Acute community-acquired diarrhea requiring hospital admission in Swiss children.
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In order to ascertain the prevalence of agents that cause childhood diarrheal illness, stool specimens of 312 consecutive children with community-acquired diarrhea requiring admission were evaluated. Pathogens were detected in 166 (53%) of the 312 children (>/=2 pathogens in 28 children): Rotavirus (n=75), Salmonella spp. (n=37), Campylobacter spp. (n=24), Shigella spp. (n=5), Giardia spp. (n=4), Yersinia spp. (n=2), Aeromonas spp. (n=15), Cryptosporidium (n=15), enteropathogenic Escherichia coli (n=13), enterotoxigenic E. coli (n=7), and enterohemorrhagic E. coli (n=5). In conclusion, acute childhood diarrheal illness pathogens, such as Aeromonas, Cryptosporidium, and diarrheagenic E. coli, account for a large proportion of patients with a microbiologically positive stool specimen. (+info)
Breast cancer and active and passive smoking: the role of the N-acetyltransferase 2 genotype.
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The association of breast cancer with passive and active smoking was investigated in slow and fast acetylators of aromatic amines in a Geneva, Switzerland, study in 1996-1997. A slow acetylator was homozygous for one, or heterozygous for two, of three N-acetyltransferase 2 (NAT2) polymorphisms determined on buccal cell DNA from 177 breast cancer cases and 170 age-matched, population controls. The reference group consisted of women never regularly exposed to active or passive smoke. Among premenopausal women, the odds ratios were homogeneous in slow and fast acetylators: 3.2 (95% confidence interval (CI): 1.2, 8.7) for passive smoking and 2.9 (95% CI: 1.1, 7.5) for active smoking. Among postmenopausal women, the odds ratios for fast acetylators were 11.6 (95% CI: 2.2, 62.2) for passive and 8.2 (95% CI: 1.4, 46.0) for active smoking; the corresponding effects were also apparent but less strong in slow acetylators. After the nonexposed and the passive smokers were grouped in a single reference category, active smoking was associated with postmenopausal breast cancer in slow acetylators (odds ratio (OR) = 2.5, 95% CI: 1.0, 6.2) but not in fast acetylators (OR = 1.3, 95% CI: 0.5, 3.3). Thus, the associations of both passive and active smoking with breast cancer appear stronger in fast than in slow NAT2 genotypes. Separating passive smokers from the nonexposed impacts on the inference about a possible NAT2-smoking interaction. (+info)
Surveillance of antituberculosis drug resistance in Switzerland 1995-1997: the central link.
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The purpose of the present paper is to investigate the usefulness of routine notification of antituberculosis drug susceptibilities. In Switzerland, laboratories have to report susceptibilities to isoniazid, rifampicin, ethambutol, and pyrazinamide to the Federal Office of Public Health. All clinical and laboratory information on every single tuberculosis case is routinely linked. Proportions of drug resistance were calculated and logistic regression was applied to evaluate the role of potential risk factors. Eighty percent (1056) of all culture-positive tuberculosis cases reported between October 1995 and December 1997 were analysed. The strains of 66 (6.3%) patients had resistances to at least one drug. Risk factors identified were previous antituberculosis treatment (adjusted odds ratio 7.3, 95% confidence interval 3.9-13.6), male sex (1.4, 1.1-2.0), and age <65 yrs (1.5, 1.0-2.3). Fourteen cases (1.3%), 13 of them foreign-born, were resistant to at least isoniazid and rifampicin. Reporting of drug susceptibilities allows routine assessment of the proportion of drug resistant tuberculosis and populations at risk. This proportion was found to be small in Switzerland. Risk factors were previous treatment for tuberculosis, male sex, and age <65 yrs. Resistance to at least isoniazid and rifampicin was predominantly found in foreign-born patients. (+info)
Epidemiology of carcinoid neoplasms in Vaud, Switzerland, 1974-97.
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In Vaud, Switzerland, the incidence of carcinoids based on 218 malignant and 215 benign cases rose from 19.6/10(6)in 1974-85 to 28. 2/10(6)in 1986-97, more so among males and malignant neoplasms. Lung was the commonest site for malignant and large intestine for benign carcinoids. Sixty-eight (16%) carcinoids had another neoplasm. (+info)
What do the needles, syringes, lancets and reagent strips of diabetic patients become in the absence of a common attitude? About 1070 questionnaires in diabetic clinics.
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The aim was to investigate the fate of injection and monitoring material after its use by diabetic patients in different countries (France, Belgium, Luxemburg, Switzeland and Tunisia). Some suitable containers are available for disposal but little is known about the attitudes of patients and physicians to them. 1 070 questionnaires were completed by patients (age: 50 +/- 18 years; diabetes duration: 15 +/- 11 years; 2.8 +/- 1.1 injections per day) visiting 109 doctors. Injections were done at home (72.6%), or both at home and at work (26.6%). At home: needles, syringes, lancets and reagent strips were thrown directly into the bin in 46.9%, 49.9%, 52.2% and 67.6% of cases, respectively; and in a closed plastic bottle in 29. 6%, 28.5%, 28.9% and 19.9% of cases, respectively. Specific containers were used in 8.6% and 6.3% of cases for needles and syringes, respectively. 62% of the bottles and containers were thrown directly into the bin, whereas 15.5% were returned to a pharmacy (4.5% taken to hospitals, 2.9% were burned). At work: 63% of the patients brought their needles and syringes home for disposal, 6.9% kept suitable containers at work and 30% threw their materials directly into local bins. We conclude that awareness should be increased and the organization of the collection of used material improved. (+info)