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An American family of English extraction is reported in which two Oh ("Bombay") members have transmitted A 2 genes to their children thus demonstrating that the expression of the gene A 2, like that of the gene B , can be suppressed in this phenotype. Another American family, of French extraction, shows with a high degree of probability that the expression of the gene A 1 can be similarly suppressed.  相似文献   
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We assessed whether the previously observed relationship between socioeconomic status (SES) and short-term mortality (pre-hospital mortality and 28-day case-fatality) after a first acute myocardial infarction (AMI) in persons <75?years, are also observed in the elderly (i.e. ≥75?years), and whether these relationships vary by sex. A nationwide register based cohort study was conducted. Between January 1st 1998 and December 31st 2007, 76,351 first AMI patients were identified, of whom 60,498 (79.2?%) were hospitalized. Logistic regression analyses were performed to measure SES differences in pre-hospital mortality after a first AMI and 28-day case-fatality after a first AMI hospitalization. All analyses were stratified by sex and age group (<55, 55-64, 65-74, 75-84, ≥85), and adjusted for age, ethnic origin, marital status, and degree of urbanization. There was an inverse relation between SES and pre-hospital mortality in both sexes. There was also an inverse relation between SES and 28-day case-fatality after hospitalization, but only in men. Compared to elderly men with the highest SES, elderly men with the lowest SES had a higher pre-hospital mortality in both 75-84?year-olds (OR?=?1.26; 95?% CI 1.09-1.47) and ≥85?year-olds (OR?=?1.26; 1.00-1.58), and a higher 28-day case-fatality in both 75-84?year-olds (OR?=?1.26; 1.06-1.50) and ≥85?year-olds (OR?=?1.36; 0.99-1.85). Compared to elderly women with the highest SES, elderly women with the lowest SES had a higher pre-hospital mortality in ≥85?year-olds (OR?=?1.20; 0.99-1.46). To conclude, in men there are SES inequalities in both pre-hospital mortality and case-fatality after a first AMI, in women these SES inequalities are only shown in pre-hospital mortality. The inequalities persist in the elderly (≥75?years of age). Clinicians and policymakers need to be more vigilant on the population with a low SES background, including the elderly.  相似文献   
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IntroductionThis study analyzed intra- and interobserver agreements during radiographic assessment of the different stages of root development using the dichotomous, Moorrees, Demirjian, and Cvek classifications, as well as the effect of the observer’s level of experience on the result.MethodsTwo hundred eighty-five digital periapical radiographs were examined via visual inspection by 3 experienced and 3 nonexperienced observers (n = 6) under strict technological and viewing conditions. After observer calibration, determination of the presence or absence of an open apex and the assignment of a root development stage according to the different subdivisions of the 4 indexes were performed. This evaluation was carried out by each observer in duplicate in the first round (n = 8) and repeated in the second round (n = 8). The 16 examinations performed by each observer (N = 96) were analyzed to determine the percentage of concordance followed by intraobserver, interobserver, and global observer agreement using the kappa coefficient and a weighted kappa. Additionally, to determine the level of concordance between the visual determination of an open or closed apex and the apical foramen width measured in millimeters, a dichotomized kappa coefficient was applied.ResultsA good level of global observer agreement was found for the dichotomous, Demirjian, and Cvek classifications. However, a significantly low percentage of total concordance and global observer agreement (6.66% and 0.498, respectively) was obtained using the Moorrees classification, which was more pronounced among nonexperienced observers (0.247). Apical foramen width measurements indicated the presence of 143 roots with an open apex (50.2%) and 142 with a closed apex (49.8%), and the dichotomized kappa coefficient test revealed a good level of agreement during the visual determination of an open or closed apex (range, 0.611–0.636).ConclusionsThe classifications of Cvek and Demirjian provided reliable results when determining the different stages of root development. In contrast, the Moorrees classification provided the lowest agreement values, with a significant negative effect among nonexperienced observers. Finally, the visual estimation of the presence (or absence) of an open apex provided a good level of concordance with the radiographic apical foramen width.  相似文献   
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Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009–2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy. The introduction of microarray led to an additional yield of submicroscopic pathogenic chromosome aberrations: 3.6% in fetuses with ultrasound anomalies and 1.9% in fetuses without ultrasound anomalies. The introduction of NIPT led to a decrease of invasive tests and of diagnostic yield. Moreover, a diagnostic delay in about 1:350 cases was observed. Since 20%–33% of pathogenic fetal chromosome aberrations are different from the common aneuploidies and triploidy, whole‐genome analysis should be offered after invasive sampling. Because NIPT (as a second screening) has led to a decreased diagnostic yield, it should be accompanied by an appropriate pretest counseling.  相似文献   
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Objective

We studied time trends in acute myocardial infarction (AMI) incidence, including out-of-hospital mortality proportions and hospitalized case-fatality rates. In addition, we compared AMI trends by age, gender and socioeconomic status.

Methods

We linked the national Dutch hospital discharge register with the cause of death register to identify first AMI in patients ≥ 35 years between 1998 and 2007. Events were categorized in three groups: 178,322 hospitalized non-fatal, 43,210 hospitalized fatal within 28 days, and 75,520 out-of-hospital fatal AMI events. Time trends were analyzed using Joinpoint and Poisson regression.

Results

Since 1998, age-standardized AMI incidence rates decreased from 620 to 380 per 100,000 in 2007 in men and from 323 to 210 per 100,000 in 2007 in women. Out-of-hospital mortality decreased from 24.3% of AMI in 1998 to 20.6% in 2007 in men and from 33.0% to 28.9% in women. Hospitalized case-fatality declined from 2003 onwards. The annual percentage change in incidence was larger in men than women (− 4.9% vs. − 4.2%, P < 0.001). Furthermore, the decline in AMI incidence was smaller in young (35–54 years: − 3.8%) and very old (≥ 85 years: − 2.6%) men and women compared to middle-aged individuals (55–84 years: − 5.3%, P < 0.001). Smaller declines in AMI rates were observed in deprived socioeconomic quintiles Q5 and Q4 relative to the most affluent quintile Q1 (P = 0.002 and P = 0.015).

Conclusions

Substantial improvements were observed in incidence, out-of-hospital mortality and short-term case-fatality after AMI in the Netherlands. Young and female groups tend to fall behind, and socioeconomic inequalities in AMI incidence persisted and have not narrowed.  相似文献   
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ABSTRACT: BACKGROUND: Socioeconomic status has a profound effect on the risk of having a first acute myocardial infarction (AMI). Information on socioeconomic inequalities in AMI incidence across age- gender-groups is lacking. Our objective was to examine socioeconomic inequalities in the incidence of AMI considering both relative and absolute measures of risk differences, with a particular focus on age and gender. METHODS: We identified all patients with a first AMI from 1997 to 2007 through linked hospital discharge and death records covering the Dutch population. Relative risks (RR) of AMI incidence were estimated by mean equivalent household income at neighbourhood-level for strata of age and gender using Poisson regression models. Socioeconomic inequalities were also shown within the stratified age-gender groups by calculating the total number of events attributable to socioeconomic disadvantage. RESULTS: Between 1997 and 2007, 317,564 people had a first AMI. When comparing the most deprived socioeconomic quintile with the most affluent quintile, the overall RR for AMI was 1.34 (95% confidence interval (CI): 1.32 - 1.36) in men and 1.44 (95% CI: 1.42 - 1.47) in women. The socioeconomic gradient decreased with age. Relative socioeconomic inequalities were most apparent in men under 35 years and in women under 65 years. The largest number of events attributable to socioeconomic inequalities was found in men aged 45-74 years and in women aged 65-84 years. The total proportion of AMIs that was attributable to socioeconomic inequalities in the Dutch population of 1997 to 2007 was 14% in men and 18% in women. CONCLUSIONS: Neighbourhood socioeconomic inequalities were observed in AMI incidence in the Netherlands, but the magnitude across age-gender groups depended on whether inequality was expressed in relative or absolute terms. Relative socioeconomic inequalities were high in young persons and women, where the absolute burden of AMI was low. Absolute socioeconomic inequalities in AMI were highest in the age-gender groups of middle-aged men and elderly women, where the number of cases was largest.  相似文献   
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