During the first 6 years of the Program of Genetic Counselling in Cancer of Valencia (eastern Spain), 310 mutations (155 in BRCA1 and 155 in BRCA2) in 1,763 hereditary breast (BC) and ovarian cancer (OC) families were identified. Of the mutations found 105 were distinct (53 in BRCA1 and 52 in BRCA2), eight new and 37 recurrent. Two of the novel mutations were frame-shift placed in exons 2 and 11 of BRCA1 and the remaining six were placed in BRCA2; four frame-shift (three in exon 11 and one in exon 23), one deletion of the entire exon 19 and one in the intervening sequence of exon 22. The BRCA1 mutations with higher recurrence were c.66_68delAG, c.5123C > A, c.1961delA, c.3770_3771delAG and c.5152+5G > A that covered 45.2% of mutations of this gene. The age of onset of BCs of c.68_69delAG mutation carriers occurs later than for the other recurrent mutations of this gene (45 vs. 37 years; p = 0.008). The BRCA2 mutations with higher recurrence were c.9026_9030delATCAT, c.3264insT and c.8978_8991del14 which represented 43.2% of all mutations in this gene, being the most recurrent mutation by far c.9026_9030delATCAT that represents 21.3% of BRCA2 mutations and 10.6% of all mutations. Probands with family histories of BC and OC, or OC and/or BC in at least two first degree relatives, were the more likely to have BRCA1/BRCA2 mutations (35.2% of the total mutations). And that most BRCA1mutations (73.19% mutations) occurred in probands with early-onset BC or with family history of OC.
BackgroundPrevious research addressed the development of a classification scheme for quality improvement systems in European hospitals. In this study we explore associations between the 'maturity' of the hospitals' quality improvement system and clinical outcomes.MethodsThe maturity classification scheme was developed based on survey results from 389 hospitals in eight European countries. We matched the hospitals from the Spanish sample (113 hospitals) with those hospitals participating in a nation-wide, voluntary hospital performance initiative. We then compared sample distributions and explored associations between the 'maturity' of the hospitals' quality improvement system and a range of composite outcomes measures, such as adjusted hospital-wide mortality, -readmission, -complication and -length of stay indices. Statistical analysis includes bivariate correlations for parametrically and non-parametrically distributed data, multiple robust regression models and bootstrapping techniques to obtain confidence-intervals for the correlation and regression estimates.ResultsOverall, 43 hospitals were included. Compared to the original sample of 113, this sample was characterized by a higher representation of university hospitals. Maturity of the quality improvement system was similar, although the matched sample showed less variability. Analysis of associations between the quality improvement system and hospital-wide outcomes suggests significant correlations for the indicator adjusted hospital complications, borderline significance for adjusted hospital readmissions and non-significance for the adjusted hospital mortality and length of stay indicators. These results are confirmed by the bootstrap estimates of the robust regression model after adjusting for hospital characteristics.ConclusionsWe assessed associations between hospitals' quality improvement systems and clinical outcomes. From this data it seems that having a more developed quality improvement system is associated with lower rates of adjusted hospital complications. A number of methodological and logistic hurdles remain to link hospital quality improvement systems to outcomes. Further research should aim at identifying the latent dimensions of quality improvement systems that predict quality and safety outcomes. Such research would add pertinent knowledge regarding the implementation of organizational strategies related with quality of care outcomes.
Evolution of Meningococcal Disease among the Infantile Population in the Autonomous Community of Valencia (1996-200). Effectivity of A+C Meningococcal Vaccination Bacground: The increase in meningococcal disease caused by serogroup C in the Autonomous Community of Valencia during the 1996-1997 period gave rise to an A+C meningococcal vaccination campaign having been conducted targeting the population ranging from 18 months to 19 years of age. The purpose of this study is that of analyzing the impact of this campaign regarding the epidemiology, clinical aspects and evolution of meningococcal disease and the vaccination status of the youth population for the purpose of evaluating the efficacy of this vaccination. Methods: The data was taken from the clinical records of the children under 15 years of age who showed clinical signs and symptoms suggesting an invasive disease with isolation of Neisseria meningitidis and/or which meet the established case definition criteria which had been treated at all of the public hospital in the Autonomous Community of Valencia within the 1996-2000 period. The trend of incidence was evaluated by means of incidence rates. The clinical aspects and their progress (sequelae and lethality) by frequency and distribution by serogroup and age. The vaccination efficacy was calculated using the Orestein equation. Results: A total of 302 cases of invasive disease caused by N. Meningitidis were recorded. The rate of incidence by serogroup C in children under age 15 dropped following the vaccination campaign from 5.82/10 5 habitants in 1997 to 1.68/10 5 habitants in 1998. Rates similar to those prior to the time prior to the vaccination recorded three years subsequent to the campaign, showing an increase in the disease caused by serogroup B over the last 2 years. Sixty-one percent of the sequelae were among children under 5 years of age. Lethality was higher for serogroup C. Vaccination efficacy three years subsequent to the campaign was 83.7% for the 5-14 age range and 69.1% for the 19month-4 year age range. Conclusion: The polysaccharide vaccine was shown to be effective for halting the outbreak. The drop in the incidence of serogroup C can be attributed to the vaccination efficacy achieved.
Mercedes Goicoechea Sáez (1), Ana M.ª Fullana Montoro (1), Pilar Momparler Carrasco (1), M.ª Jesús Redondo Gallego (1), Juan Brines Solanes (2) y Francisco J. Bueno Cañigral (3).
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