To explore the effects of rearing patterns on diet and temperament traits among infants in urban areas.A total of 480 25-30-month-old infants were randomly selected from the birth cohort in Hefei Maternal and Child Health Care Center in 2008. A household survey was conducted using China Toddler Temperament Scale (CTTS), Dietary Characteristics Questionnaire and Family Environment Questionnaire.Of the 430 surveyed households, there were three main rearing patterns including parents rearing pattern (Group A), grandparents rearing pattern (Group B) and joint rearing pattern (Group C), accounting for 33.0%, 21.2% and 45.8%, respectively. Infants in Group A tended to adopt processed food pattern, with poor rhythmicity and adaptability; infants in Group B tended to adopt fruit, vegetable, and cereals-based food pattern, with relatively poor rhythmicity; infants in Group C tended to adopt aquatic products and fruit/vegetable-based food pattern, with good rhythmicity and adaptability. Linear regression model showed that infants who consumed more aquatic products, high-protein food, and fruits/vegetables had more positive temperamental traits, whereas infants who consumed more processed foods had more negative temperamental traits.A joint rearing pattern may be a favorable rearing style for infants aged 25-30 months in urban areas in terms of diet and temperament traits.
Introduction: African Americans have the highest prevalence of obesity in the U.S. Our prior work on HapMap imputed genome-wide association studies (GWAS) from the African Ancestry Anthropometry Genetics Consortium (AAAGC) revealed seven genome-wide significant loci for body mass index (BMI). Hypothesis: In this study, we extended to use genome-wide imputation to the cosmopolitan 1000 Genomes Phase 1 reference panel to examine individuals of African ancestry for association with BMI (N=53,493), waist-to-hip ratio adjusted for BMI (WHRadjBMI) (N=23,692) and height (N=53,362) in the discovery and replication stages. Methods: In each study, traits were stratified by gender and transformed to normality and adjusted for age, study specific covariates and principal components for single variant association test under an additive model. In the discovery stage, meta-analyses using fixed-effects inverse variance weighted method were performed to combine association results in all and sex-stratified samples. Variants with P<1E-4 were selected for subsequent replications in both individuals of African ancestry and European ancestry, the latter results were obtained by imputation of summary statistics from the GIANT consortium (N=322,154 for BMI, 210,062 for WHRadjBMI, and 253,252 for height). Results: For BMI, we observed genome-wide significant associations (P<5E-8) at seven established loci (near SEC16B, TMEM18, GNPDA2, GALNT10, KLHL32, FTO and MC4R) in meta-analysis of all African ancestry individuals from the discovery and replication stages. Sex-stratified meta-analysis revealed two novel loci near IRX4-IRX2 in women, and near MLC1 in men, respectively. Meta-analysis of all individuals from African and European ancestry revealed an additional novel locus near ARAP1. For WHRadjBMI, we observed genome-wide significant associations at one established locus (ADAMTS9) in all African ancestry individuals, and three novel loci (near SSX2IP, RREB1 and PDE3B) in women. For height, we observed 29 established loci and three novel loci (near NCOA2, P4HA1 and TGFB3) in all African ancestry individuals, and three novel loci (near CRB1, MIR4268 and LINC00704) in women. Among 12 lead variants at novel loci associated with anthropometry traits, four variants are low frequencies in our African ancestry populations (0.005<MAF <0.05). On the contrary, all but one of the lead variants at established loci were common. Conclusions: We identified 12 novel loci associated with anthropometry traits in sex-combined and sex-stratified analyses of African ancestry populations and additional European populations. Our findings support that imputation to higher density reference panels such as 1000 Genomes improves the power to detect associations at low frequency variants, which is particularly useful for African ancestry populations with a low degree of linkage disequilibrium.
X-linked thrombocytopenia (XLT) is a milder form of Wiskott-Aldrich syndrome (WAS), characterized predominantly by thrombocytopenia with small-sized platelets. Mutations in the WAS gene are responsible for the disease. We herein detected a new mutation in the WAS gene responsible for XLT in a 3-generation Chinese pedigree.Peripheral blood samples were collected from 7 members in the family. WAS gene was amplified from genomic DNA isolated from leucocytes, and then direct sequencing was performed.Three male members of this family (the proband, his younger brother and maternal uncle) had thrombocytopenia and decreased mean platelet volume. A homozygous mutation (T>C) was found at nucleotide position 319 in exon 3, causing the amino acid Tyr (T) to be abnormally changed to His (H) at position 107. Two female members (the proband's mother and grandmother) were carriers of the mutation.XLT is easy to misdiagnose as immune thrombocytopenic purpura (ITP). The diagnosis of XLT should be considered in any male with congenital microthrombocytopenia or early onset of microthrombocytope-nia (< 7 fL). This article adds to the growing number of known mutations associated with XLT.
Menstrual cycles are composites of complex events; the data describing them are correspondingly rich. We seek to quantitatively represent menstrual histories from menarche to menopause and to evaluate the clinical belief that regular and stable cycle lengths are the most normative histories.Using prospective data from the Tremin Trust, we classified the menstrual histories of 628 women as very stable (type I), stable but with greater variability in cycle lengths (type II), oscillating and erratic with a downward trend in cycle length (type III), oscillating and erratic with no downward trend in cycle length (type IV), or highly erratic and variable (type V). Classification criteria were created by examining basic summary statistics of menstrual cycle lengths. Specifically, we identified key features describing variability of median cycle length, the mean of the interquartile range, the consistency of the interquartile range, the slope of median cycle lengths, and the number of stable 5-year intervals between ages 15 and 45+.We present the first characterization of full menstrual histories. Our taxonomy captures the essential features of menstrual bleeding patterns for a heterogeneous population. Persistently stable histories (types I and II) were seen in only 28% of the women; erratic histories (types III through V) characterized 72%. When examining all participants, significant differences were seen in age at menarche (P < 0.05), age at menopause (P < 0.01), and number of births (P < 0.01) between these stable and erratic groups.Although clinicians have traditionally thought of "normal" menstrual histories as being regular and stable, the distribution of women in our five categories suggest that variable histories are most common. Clinically, these results may suggest the need for a paradigm shift in what gynecologists view as normal and abnormal menstrual cycle histories.
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