Objective: To analyze the relationship between family-related factors and the status of overweight and obesity in children and adolescents aged 6-17 years in China. Methods: Data were collected from the China National Nutrition and Health Surveillance in 2010-2012 program. A sample of 6 343 subjects aged 6-17 years was selected, with matched weight, education levels, household income and other family related factors of their parents. Univariate analysis and multivariate logistic regression were used to explore the relationship between family factors and overweight and obesity in school-aged children and adolescents. Results: After adjusted for age, gender and region, results from the multivariate logistic regression showed that both the overweight and obesity of children and adolescents were associated with maternal BMI (OR=1.83, 95%CI: 1.63-2.05), paternal BMI (OR=1.74, 95%CI: 1.57-1.94), mother's educational level (OR=1.24, 95%CI: 1.12-1.37) and household income (OR=1.30, 95%CI: 1.15-1.46). Conclusion: Factors as overweight or obesity status of the parents, mother's educational level and household income were positively correlated with the prevalence of overweight and obesity in Chinese children and adolescents.
Adolescent ; Body Mass Index ; Body Weight ; Child ; China/epidemiology* ; Cross-Sectional Studies ; Family/psychology* ; Family Characteristics ; Female ; Humans ; Male ; Obesity/psychology* ; Overweight/psychology* ; Parent-Child Relations ; Parents ; Pediatric Obesity/ethnology* ; Prevalence ; Schools

Objective: To describe the study design, the characteristics of participants as well as the pedigrees included in the baseline survey of Fujian Tulou Family Cohort Study. Methods: Fujian Tulou Family Cohort Study was a prospective open cohort study with a biological sample bank. A baseline survey was conducted in Tulou areas of Nanjing county in Fujian province from 2015 to 2018, including questionnaire survey, physical and biochemical indicators examinations, and blood sample collection in adults aged ≥18 years. In addition, family relationship of the participants was also recorded. The pedigree information of the juveniles under 18 years old were also collected. Results: The baseline survey included 2 727 individuals in two clans, of whom 2 373 (87.0%) were adults, and 2 126 participants completed questionnaires, physical examinations and biochemical tests. The average age of the 2 126 participants was (57.9±13.3) years, with 39.4% being males. The current smoking rates in male and female participants were 41.2% and 2.1%, respectively. The corresponding rates of current alcohol consumption were 19.0% and 2.6%. For common chronic diseases, the prevalence rates were 51.3% for hypertension, 9.7% for diabetes and 26.7% for hyperlipemia according to the self-reported disease diagnoses, health examination results and biochemical examination results in class Ⅱ or Ⅲ hospitals. Based on the family relationship information and genealogical data, 710 pedigrees were finally identified, consisting of 5 087 family members. The numbers of five, four, three, and two generations pedigrees were 3, 88, 238 and 381, respectively. The pairs of the first to the fifth degree relatives were 12 039, 2 662, 1 511, 202 and 31, respectively. Conclusion: The establishment of Fujian Tulou Family Cohort provides valuable resources for exploring the genetic risk factors, environmental risk factors and gene-environment interactions contributing to the risk of common chronic diseases.
Adolescent ; Adult ; Aged ; China/epidemiology* ; Chronic Disease/ethnology* ; Cohort Studies ; Diabetes Mellitus/ethnology* ; Family Health ; Female ; Gene-Environment Interaction ; Genetic Predisposition to Disease/ethnology* ; Humans ; Hyperlipidemias/ethnology* ; Hypertension/ethnology* ; Male ; Middle Aged ; Pedigree ; Prospective Studies ; Risk Factors ; Surveys and Questionnaires

OBJECTIVETo detect potential mutation of NFU1 gene in a Chinese family affected with multiple mitochondrial dysfunction syndrome (MMDS).

METHODSFor a mother with two children died of MMDS, next-generation sequencing (NGS) was used to scan her exome. Suspected mutation was validated with PCR and Sanger sequencing. Potential mutation of exons 1 to 8 and flanking regions of the NFU1 gene was also detected in the father by PCR and Sanger sequencing.

RESULTSA novel deletional mutation c.90delC(p.Tyr30Ter) of the NFU1 gene was found in the mother, while the father was found to have carried a heterozygous c.572A>T (p.Asp191Val) mutation. The same mutations were not found among 100 healthy controls.

CONCLUSIONThe novel mutations c.90delC (p.Tyr30Ter) and c.572A>T (p.Asp191Val) of the NFU1 gene probably underlie the pathogenesis of MMDS in our case. Combined NGS and Sanger sequencing may provide efficient and accurate diagnosis for this disease.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; Carrier Proteins ; genetics ; China ; Exome ; genetics ; Family Health ; Fatal Outcome ; Female ; Genetic Predisposition to Disease ; ethnology ; genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing ; methods ; Humans ; Infant ; Male ; Mitochondrial Diseases ; ethnology ; genetics ; Mutation ; Pedigree ; Sequence Deletion ; Sequence Homology, Nucleic Acid

OBJECTIVETo detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency.

METHODSGenomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing.

RESULTSThe proband was found to have compound heterozygous mutations of the ALDH5A1 gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. The same mutations were not found among the 100 healthy controls.

CONCLUSIONThe novel mutations of the ALDH5A1 gene probably underlie the pathogenesis of the disease in the infant, which also enriched the mutation spectrum of the ALDH5A1 gene.

Amino Acid Metabolism, Inborn Errors ; ethnology ; genetics ; Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; DNA Mutational Analysis ; methods ; Developmental Disabilities ; ethnology ; genetics ; Exons ; genetics ; Family Health ; Female ; Heterozygote ; Humans ; Infant ; Introns ; genetics ; Male ; Mutation ; Sequence Homology, Amino Acid ; Succinate-Semialdehyde Dehydrogenase ; deficiency ; genetics

OBJECTIVETo identify potential mutation of COL1A1 gene in an ethnic Han Chinese family from Henan affected with osteogenesis imperfecta (OI).

METHODSPeripheral blood samples were collected from all 11 members of the family and 50 healthy adults for the extraction of genomic DNA. All exons and introns of the COL1A1 gene were amplified by polymerase chain reaction and subjected to direct sequencing. Mutations found in the proband were analyzed through comparison with other members of the family, 50 healthy individuals and sequence from the GenBank.

RESULTSFifteen sequence variants were discovered, which included 1 missense mutation, 1 synonymous mutation and 13 intronic mutations. All of the 4 patients from the family were detected as having carried a novel heterozygous missense mutation (c.4193T>G, p.I1398S) in exon 50 of the COL1A1 gene. The father of the proband has carried the same mutation but had a normal phenotype. The same mutation was not found in other healthy members of the family.

CONCLUSIONThe OI type of this family may have been autosomal dominant with incomplete penetrance or autosomal recessive associated with COL1A1 gene mutations.

Adolescent ; Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Collagen Type I ; genetics ; DNA Mutational Analysis ; Family Health ; Female ; Genetic Predisposition to Disease ; ethnology ; genetics ; Heterozygote ; Humans ; Male ; Mutation ; Osteogenesis Imperfecta ; ethnology ; genetics ; Pedigree ; Penetrance ; Sequence Homology, Amino Acid ; Young Adult

OBJECTIVETo identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris.

METHODSAll coding exons and exon-intron boundary of the FLG gene were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. The results were compared with those of 100 unrelated healthy controls.

RESULTSTwo novel missense mutations, c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y), were detected in all affected individuals from family 1 and family 2 respectively but none of the controls.

CONCLUSIONThe c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y) of the FLG gene may lead to alteration of the structure and function of the FLG protein and cause ichthyosis vulgaris in the two families.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; DNA Mutational Analysis ; Exons ; genetics ; Family Health ; Female ; Genetic Predisposition to Disease ; ethnology ; genetics ; Humans ; Ichthyosis Vulgaris ; ethnology ; genetics ; Intermediate Filament Proteins ; genetics ; Introns ; genetics ; Male ; Mutation, Missense ; Pedigree

OBJECTIVETo identify the pathogenic mutation underlying piebaldism in a Chinese family.

METHODSA three-generation family showing an autosomal dominant transmission of piebaldism was recruited. Potential mutations of the KIT and SNAI2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing.

RESULTSA heterozygous missense mutation, c.2585T>C, was identified in exon 18 of the KIT gene. The mutation, together with a c.2586G>C polymorphism, has led to substitution of Leucine by Proline at amino acid residue 862 (p.Leu862Pro) of the mast/stem cell growth factor receptor KIT. The same mutation was detected in all affected family members but not in dbSNP142, the 1000 Genomes draft database, or the Human Gene Mutation Database. No mutation of the SNAI2 gene was found.

CONCLUSIONThe c.2585T>C (p.Leu862Pro) mutation in the KIT gene probably underlies the piebaldism phenotype in this family.

Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; DNA Mutational Analysis ; methods ; Exons ; genetics ; Family Health ; Female ; Genetic Predisposition to Disease ; ethnology ; genetics ; Heterozygote ; Humans ; Infant ; Introns ; genetics ; Male ; Mutation, Missense ; Pedigree ; Phenotype ; Piebaldism ; ethnology ; genetics ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Proto-Oncogene Proteins c-kit ; genetics ; Sequence Homology, Amino Acid

OBJECTIVETo analyze the clinical manifestations and mutation of MYH9 gene in a large Chinese family affected with MYH9-related thrombocytopenia.

METHODSAfter informed consent was obtained; clinical examination and history investigation was performed on 29 members of the family. DNA was extracted using a standard method, then exons 1 to 40 and their corresponding exon-intron junctions of the MYH9 gene were amplified with PCR and subjected to Sanger sequencing. The results were compared to reference sequence from the University of California, Santa Cruz (UCSC) to screen the mutation. PCR and Sanger sequencing was performed on genome DNA of all family members to confirm the identified mutation.

RESULTSThe clinical manifestations of family members were prominently heterogeneous. Four affected members showed hearing loss or deafness, two affected members showed nephritis or kidney failure, and other affected members was only characterized by mild bleeding or with no obvious symptoms. A heterozygous missense mutation c.4270G>A (p.Aspl841Asn) in exon 30 of the MYH9 gene was identified in all affected members from this family, which also co-segregated with the phenotype.

CONCLUSIONA missense mutation c.4270G>A (p.Aspl841Asn) within the exon 30 of the MYH9 gene was identified to be associated with MYH9-related thrombocytopenia in a Chinese family.

Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; China ; DNA Mutational Analysis ; Exons ; genetics ; Family Health ; Female ; Genetic Predisposition to Disease ; ethnology ; genetics ; Heterozygote ; Humans ; Male ; Molecular Motor Proteins ; genetics ; Mutation, Missense ; Myosin Heavy Chains ; genetics ; Pedigree ; Sequence Homology, Amino Acid ; Thrombocytopenia ; ethnology ; genetics

OBJECTIVETo analyze the status of maternal health behaviors and it's risk factors for Yi-nationality women in poor rural areas of Sichuan province.

METHODSIn 2012, multi-stage stratified cluster sampling method was used to select 14 villages of two poor counties in Liangshan Yi-nationality autonomous prefecture Sichuan province. At least 10 women who have infants aged 0-12 months were selected in each simple villages, a total of 284. The structured questionnaire was developed on the basis of the theory of reasoned action. Yi-nationality female college students were trained as investigators. Research indicators included prenatal care rate, hospital delivery rate, postpartum examination rate, socio-demographic characteristics, maternal health care knowledge. χ² test was used to compare the differences of above indicators among different groups. The structural equation model were used to statistical analyze.

RESULTSIn the 284 subject women, 51.7% (147/284) women owned more than 2 children, 41.6% (118/284) women were more than 30 years old, 87.3% (248/284) women were illiteracy. The prenatal care rate was 69.7% (197/284), the hospital delivery rate was 26.8% (76/284), and the postnatal check rate was 22.9% (65/284). The influence factors of maternal health behaviors included the number of children, age and education (χ² were 10.92, 13.24, 9.58; P values were 0.027, 0.004, 0.008, respectively).The structural equation model analysis results showed that the maternal health behaviors were directly or indirectly affected by subjective norms (β = 0.236, P < 0.001), women's cognition (β = 0.226, P = 0.020) and women's attitudes on maternal health behavior (β = 0.157, P = 0.001). Among subjective norms, women have high compliance to their husbands (β = 0.850, P < 0.001), their peers (β = 0.708, P < 0.001), and their mothers-in-law (β = 0.636, P < 0.001).

CONCLUSIONThere were still serious problems in maternal health behaviors for Yi-nationality women in poor rural areas. The main factors included not only the women's cognition and attitudes for maternal health, but also the attitudes of important social relationships.

Child ; China ; Ethnic Groups ; Family ; Female ; Health Behavior ; ethnology ; Humans ; Infant ; Maternal Health ; ethnology ; Maternal Health Services ; Postpartum Period ; Pregnancy ; Prenatal Care ; Risk Factors ; Rural Population

PURPOSE: The purpose of this study is to explore and describe Khmer mothers' understanding of HBV and HPV prevention as well as their perception of parenting on health and health education of their daughters in the US. METHODS: The qualitative pilot study guided by the revised Network Episode Model and informed by ethnographic analysis and community-based purposive sampling method were used. Face-to-face audiotaped interviews with eight Khmer mothers were conducted by bilingual female middle-aged community health leaders who spoke Khmer. RESULTS: The findings revealed that Khmer mothers clearly lacked knowledge about HBV and HPV infection prevention and had difficulty understanding and educating their daughters about health behavior, especially on sex-related topics. The findings showed that histo-sociocultural factors are integrated with the individual factor, and these factors influenced the HBV and HPV knowledge and perspective of Khmer mothers' parenting. CONCLUSIONS: The study suggests that situation-specific conceptual and methodological approaches that take into account the uniqueness of the sociocultural context of CAs is a novel method for identifying factors that are significant in shaping the perception of Khmer mothers' health education related to HBV and HPV prevention among their daughters. The communication between mother and daughter about sex and the risk involved in contracting HBV and HPV has been limited, partly because it is seen as a "taboo subject" and partly because mothers think that schools educate their children regarding sexuality and health.
Adolescent ; Adult ; Asian Americans/psychology ; Cambodia/ethnology ; Child ; Child Rearing/*psychology ; Communication ; Female ; *Health Education ; *Health Knowledge, Attitudes, Practice ; Humans ; Middle Aged ; Mothers/*psychology ; Nuclear Family ; Papillomavirus Infections/*prevention & control ; Parenting/*psychology ; Pilot Projects ; Qualitative Research ; United States ; Young Adult