BackgroundGenome-wide homozygosity estimation from genomic data is becoming an increasingly interesting research topic. The aim of this study was to compare different methods for estimating individual homozygosity-by-descent based on the information from human genome-wide scans rather than genealogies. We considered the four most commonly used methods and investigated their applicability to single-nucleotide polymorphism (SNP) data in both a simulation study and by using the human genotyped data. A total of 986 inhabitants from the isolated Island of Vis, Croatia (where inbreeding is present, but no pedigree-based inbreeding was observed at the level of F > 0.0625) were included in this study. All individuals were genotyped with the Illumina HumanHap300 array with 317,503 SNP markers.ResultsSimulation data suggested that multi-point FEstim is the method most strongly correlated to true homozygosity-by-descent. Correlation coefficients between the homozygosity-by-descent estimates were high but only for inbred individuals, with nearly absolute correlation between single-point measures.ConclusionsDeciding who is really inbred is a methodological challenge where multi-point approaches can be very helpful once the set of SNP markers is filtered to remove linkage disequilibrium. The use of several different methodological approaches and hence different homozygosity measures can help to distinguish between homozygosity-by-state and homozygosity-by-descent in studies investigating the effects of genomic autozygosity on human health.
AimTo evaluate the quality of antenatal care (ANC) in Hebei Province and compare it between the public and private sector and within the public sector.MethodsWe conducted a Maternal, Newborn and Child Health Household Survey in 2010 using a two-stage sampling procedure and included 1079 mothers. The quality of ANC was assessed on the basis of the number of ANC visits, the time of the first ANC visit, 16 different ANC procedures, owning a maternal health care booklet, and the type of service provider.ResultsAlmost all women (98%) received ANC services at least once, 80% at least four times, and 54% at least five times. About half of the women (46%) visited ANC facility within their first trimester. Neither public nor private sector provided all 16 standardized services, but significantly more women in public sector received ANC procedures. Most women received ANC in county or higher-level hospitals (75%) and very few in township hospitals (8%). Significantly fewer women were weighed and tested for HIV/AIDS in township than in county or higher-level hospitals.ConclusionThe quality of ANC in Hebei was poorer than required by China’s national and World Health Organization norms. Although the public sector performed better than the private sector, the utilization and quality of care of ANC services in this sector varied and women generally visited county or higher-level health facilities.
Although stress strongly predicts life satisfaction, the psychosocial mechanisms underlying this association remain unclear. To investigate the possible mediating role of coping, we conducted a cross-sectional study that assessed youths' life stress levels, propensity to engage in three different coping styles (i.e., active coping, internal coping, & withdrawal), and life satisfaction in a probabilistic, twostage stratified cluster sample of 1830 high school seniors (986 females; age range: 17-22 years old) from 26 schools in or around the four largest cities in Croatia. We used correlational analyses and structural equation modelling to test the hypothesis that coping mediates the relation between stress and life satisfaction. The tested model was marginally acceptable: χ 2 = 1613.85, df = 177, p < 0.001, goodness-of-fit-index = 0.92, Comparative Fit Index = 0.91, Tucker-Lewis Index = 0.89, root mean square error of approximation = 0.067 (90% CI = 0.064 to 0.070), standardized root mean squared residual = 0.056. As hypothesized, stress was related to life satisfaction directly (βc' = −0.22, p < 0.01) but also indirectly (βab = −0.05, p < 0.01) by affecting youths' likelihood of engaging in withdrawal behaviours, such as avoiding problems, distracting, or using anger, alcohol, or drugs. The proportion of the total effect mediated by withdrawal was 19.4%. In contrast, neither active nor internal coping were significant mediators. Based on these results, we conclude that preventive and educational programs for enhancing youth mental health may benefit from reducing adolescents' stress levels and stress-related withdrawal behaviour, and by encouraging youth to use active coping strategies instead.
BackgroundEpidemiology of type 1 diabetes mellitus (T1DM) among children aged 0-4 years globally is not well understood. We aim to assess the incidence of T1DM in low- and middle-income countries (LMIC) by conducting a systematic review of previous reports. We also aim to address possible contribution to child mortality and to identify any temporal trends.MethodsA systematic review was performed using a carefully designed search strategy to explore MEDLINE, EMBASE and Global Health databases. Data was extracted from all studies that satisfied the inclusion criteria –a total of 83 records extracted from 26 830 sources that were analysed. We used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) process to assess quality of evidence and applied meta-analysis approaches to assess global and regional incidence and time trends.ResultsThe overall pooled incidence of T1DM in children aged 0-4 years globally is 11.2 (95% CI = 10.0-12.3) per 100 000 child years. The regional incidence were the highest for European Region A (EUR A) at 15.5 (95% CI = 13.5-17.5) per 100 000 child years. EUR C had the incidence of 10.0 (95% CI = 6.5-13.6) and EUR B 5.8 (95% CI = 4.7-7.0), Region of the Americas A (AMR A) 11.4 (95% CI = 7.8-14.9), AMR B of 2.5 (95% CI = 0.2-4.8), Eastern Mediterranean Region (EMR B) 7.1 (95% CI = 4.2-10.0) and Western Pacific Region (WPR A) 7.0 (95% CI = 2.9-11.0) per 100 000 child years, while other regions had very low rates or no data. When data points were categorised in the study periods and re-analysed, an increasing trend of the T1DM incidence was observed, with the incidence of 20.9 (95% CI = 7.8-34.1) per 100 000 child years in the years 2010-2015, preceded by 13.2 (95% CI = 11.0-15.5) in 2000-2009 study period, 10.0 (95% CI = 8.4-11.7) in 1990-1999 and 8.3 (95% CI = 5.1-11.6) in 1980-1989, respectively. Although the data are scarce, and variation and uncertainty are large, we estimated that the number of new cases of T1DM among children aged 0-4 years in the world each year is between 100 000 and 150 000.ConclusionsThe identified large variation in incidence estimates for different parts of the world, along with scarcity of information and the identified strong temporal increase in T1DM incidence suggest a clear need for further research into this subject.
Osteochondrodysplasias comprise a large, genetically heterogeneous group of disorders characterized by abnormalities of cartilage and bone growth. They are often associated with abnormalities in other organ systems. They are classified as lethal or non-lethal skeletal dysplasias. Thanatophoric dysplasia is the most common form of lethal skeletal dysplasia with an incidence of 0.69 per 10.000 births. Heterozygous achondroplasia is the most common non-lethal dysplasia with an incidence of 0.15 per 10.000 births. We will present two cases of skeletal dysplasia. The first case is the case of lethal osteochondrodysplasia in the fetus of a 41-year-old multiparous woman, who came to our hospital in active preterm labor, in the 33 th week of uncontrolled pregnancy. The second case is the case of non-lethal osteochondrodysplasia in the fetus of a 31-year-old multiparous woman. The fetal short femur length was detected in the 30 th week of pregnancy.
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