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We describe a child with global developmental delay, prominent metopic suture, trigonocephaly, and cryptorchidism whose symptoms resemble the well-known 9p deletion syndrome or 9p monosomy. We also noted congenital hydrocephalus, oculocutaneous albinism, retinal coloboma, and megalocornea, which are not typical features of 9p monosomy. When a new albinism gene was localized to 9p (Chintamaneni et al., Biochem Biophys Res Commun 1991;178:227-235; Murty et al., Genomics 1992;13:227-229), we hypothesized that our patient had the 9p deletion syndrome plus albinism, with the deletion involving the albinism gene. We used FISH probes to test this hypothesis and found that the 9p region was normal, therefore excluding the 9p deletion syndrome. To our knowledge, the association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma has not been described in the literature. The purpose of this report is to describe this new association of congenital ocular and cerebral anomalies in a syndromic child. 相似文献
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Sergey?TimoninEmail author Vladimir?M.?Shkolnikov Domantas?Jasilionis Pavel?Grigoriev Dmitry?A.?Jdanov David?A.?Leon 《Population health metrics》2016,14(1):29
Background
Over the past half century the global tendency for improvements in longevity has been uneven across countries. This has resulted in widening of inter-country disparities in life expectancy. Moreover, the pattern of divergence appears to be driven in part by processes at the level of country groupings defined in geopolitical terms. A systematic quantitative analysis of this phenomenon has not been possible using demographic decomposition approaches as these have not been suitably adapted for this purpose. In this paper we present an elaboration of conventional decomposition techniques to provide a toolkit for analysis of the inter-country variance, and illustrate its use by analyzing trends in life expectancy in developed countries over a 40-year period.Methods
We analyze trends in the population-weighted variance of life expectancy at birth across 36 developed countries and three country groups over the period 1970–2010. We have modified existing decomposition approaches using the stepwise replacement algorithm to compute age components of changes in the total variance as well as variance between and within groups of Established Market Economies (EME), Central and Eastern Europe (CEE), and the Former Soviet Union (FSU). The method is generally applicable to the decomposition of temporal changes in any aggregate index based on a set of populations.Results
The divergence in life expectancy between developed countries has generally increased over the study period. This tendency dominated from the beginning of 1970s to the early 2000s, and reversed only after 2005. From 1970 to 2010, the total standard deviation of life expectancy increased from 2.0 to 5.6 years among men and from 1.0 to 3.6 years among women. This was determined by the between-group effects due to polarization between the EME and the FSU. The latter contrast was largely fueled by the long-term health crisis in Russia. With respect to age, the increase in the overall divergence was attributable to between-country differences in mortality changes at ages 15–64 years compared to those aged 65 and older. The within-group variance increased, especially among women. This change was mostly produced by growing mortality differences at ages 65 and older.Conclusions
From the early 1970s to the mid-2000s, the strong divergence in life expectancy across developed countries was largely determined by the between-group variance and mortality polarization linked to the East–West geopolitical division.195.
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Shkolnikov VM Scholz R Jdanov DA Stegmann M von Gaudecker HM 《European journal of public health》2008,18(3):264-269
BACKGROUND: Socioeconomic differences in old-age mortality have not been studied in Germany. This study fills in the gap, evaluating mortality and life expectancy differentials among retired German men aged 65+ in 2003. METHODS: Mortality rates are calculated from the administrative database on all public pensions and deaths of pensioners in 2003. Relative mortality rates and life expectancies are estimated for population subgroups according to the quintiles of lifetime earnings, type of medical insurance, broad occupational group, and residence in eastern or western Germany. RESULTS: Among pension income quintiles, mortality varies by 60% and life expectancy at age 65 ranges from 14.9 to 18.5 years. Quintile-specific mortality and life-expectancy values are only slightly more favorable in western compared to eastern Germany. The mortality of manual workers is by 35% greater than that of salaried employees, while the mortality of those with mandatory public health insurance is 44% greater than the mortality of those with private or voluntary public health insurance. When all four characteristics are taken into account, relative mortality in the group with the highest mortality is three times higher than at the opposite end of the distribution, and corresponding life expectancies are 12.5 and 20 years. Half of all male deaths at ages 65+ are attributable to this variation. The mortality differentials remain significant at ages 80+. CONCLUSIONS: Socioeconomic mortality differentials persist into old age. They are similar in both regions and their magnitude is much greater than the diminishing mortality gap between the two parts of the country. 相似文献
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