Identification of a Novel 15q21.1 Microdeletion in a Family with Marfan Syndrome.

Background: Marfan syndrome (MFS) is a connective tissue disease involving multiple systems, with thoracic aortic aneurysm (TAA) as the most common life-threatening manifestation. Method: A pedigree with TAA was investigated, and peripheral venous blood was extracted from six family members. After whole exome sequencing (WES) and chromosomal microarray analysis (CMA) in these individuals, bioinformatics and inheritance analyses were performed. Result: WES revealed a novel, small, 0.76 Mb microdeletion in 15q21.1, which cosegregated with the disease phenotype in the family and led to the haploinsufficiency of the fibrillin 1 (FBN1) gene, which is associated with MFS. This small copy number variant (CNV) was confirmed by CMA. Conclusion: Our study expands the phenotypic spectrum of the pathogenic CNV associated with MFS, thereby facilitating clinical genetic diagnosis and future genetic counseling for this family.

Spatial, temporal, and spatiotemporal analysis of mumps in Guangxi Province, China, 2005-2016.

BACKGROUND: The resurgence of mumps around the world occurs frequently in recent years. As the country with the largest number of cases in the world, the status of mumps epidemics in China is not yet clear. This study, taking the relatively serious epidemic province of Guangxi as the example, aimed to examine the spatiotemporal pattern and epidemiological characteristics of mumps, and provide a scientific basis for the effective control of this disease and formulation of related health policies. METHODS: Geographic information system (GIS)-based spatiotemporal analyses, including spatial autocorrelation analysis, Kulldorff's purely spatial and space-time scan statistics, were applied to detect the location and extent of mumps high-risk areas. Spatial empirical Bayesian (SEB) was performed to smoothen the rate for eliminating the instability of small-area data. RESULTS: A total of 208,470 cases were reported during 2005 and 2016 in Guangxi. Despite the fluctuations in 2006 and 2011, the overall mumps epidemic continued to decline. Bimodal seasonal distribution (mainly from April to July) were found and students aged 5-9 years were high-incidence groups. Though results of the global spatial autocorrelation based on the annual incidence largely varied, the spatial distribution of the average annual incidence of mumps was nonrandom with the significant Moran's I. Spatial cluster analysis detected high-value clusters, mainly located in the western, northern and central parts of Guangxi. Spatiotemporal scan statistics identified almost the same high-risk areas, and the aggregation time was mainly concentrated in 2009-2012. CONCLUSION: The incidence of mumps in Guangxi exhibited spatial heterogeneity in 2005-2016. Several spatial and spatiotemporal clusters were identified in this study, which might assist the local government to develop targeted health strategies, allocate health resources reasonably and increase the efficiency of disease prevention.

Impact of meteorological factors on mumps and potential effect modifiers: An analysis of 10 cities in Guangxi, Southern China.

BACKGROUND: In the current context of global climate change, understanding the impact of climate on respiratory infectious diseases such as mumps and the potential modified factors is crucial, especially in developing countries. However, research on the climate-related incidence of mumps is rare, inconsistent and mainly limited to a single city or region. METHODS: Daily mumps cases and meteorological variables of 10 cities in Guangxi, Southern China were collected for 2005-2017. Two-stage analyses were performed to assess the relationship between meteorological factors and mumps incidence during two time-periods: 2005-2012 and 2013-2017, separately. First, a Poisson regression model that allows over-dispersion was used to estimate the city-specific climate-related morbidity after controlling for temporal trends, day of week, and national statutory holidays. Then, we used a multivariate meta-analytical model to pool the city-specific effect estimates and conducted subgroup analyses. Multivariate meta-regression was applied to detect potential effect modifiers. RESULTS: Non-linear relationships were observed among mean temperature, wind speed, and mumps incidence in 2005-2012. The impact of high temperature on mumps incidence was short and rapid, whereas the impact of low temperature was long and slow. The total cumulative relative risk (RR) associated with hot temperature was 1.18 [95% Confidence Interval (CI): 0.93, 1.48], which was calculated by comparing the incidence of mumps above the 90th percentile of temperature with its incidence at the median temperature at lag of 0-30 days. Meanwhile, the RR associated with cold temperature was calculated to be 1.50 (95% CI: 1.08, 2.10) by comparing the incidence of mumps below the 10th percentile of temperature with its incidence at the median temperature. Similarly, the RRs associated with windless and windy conditions for the total population were 1.23 (95% CI: 1.04, 1.46) and 0.83 (95% CI: 0.67, 1.02), respectively. Effects based on extreme temperature and wind speed conditions were more prominent in males than in females. Compared with children and adults, adolescents (5-14 years old) were more sensitive to extreme weather conditions. Geographical latitude, Population density, GDP per capita, Number of health institutions, Highly educated population and Inoculation rate were considered the most likely associated modifiers. In addition, the correlation between meteorological factors and the incidence of mumps and modification of socioeconomic factors after 2013 showed similar curves compared with results in 2005-2012, but the cumulative effect was not statistically significant. CONCLUSIONS: Meteorological factors, such as temperature and wind speed, exert a significant impact on the incidence of mumps. The relationship varies depending on gender and age. Socioeconomic factors such as vaccination, GDP, geographical latitude, etc. may substantially affect the weather-related mumps incidence.

[Analysis on poliomyelitis neutralizing antibody in healthy population on border areas of Guangxi Zhuang Autonomous Region].

OBJECTIVE: To understand the antibody level of poliomyelitis in healthy population on border districts of Guangxi Zhuang Autonomous Region. METHODS: The surveillance of poliomyelitis neutralizing antibody was conducted from a selected randomly stratified sample of 902 border residents who aged from 1- to 59-years-old. RESULTS: The positive rate and geometric mean titer (GMT) of poliomyelitis neutralizing antibody type I, II and III were 93.90%, 97.67%, 92.02% and 1:53.22, 1:66.51, 1:20.01 respectively. CONCLUSION: A higher level of immunity against poliovirus in healthy population has been established on border areas.