Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

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Liu, Xiaowen; Tang, Zhaohui; Li, Chang; Yang, Kangjuan; Gan, Guanqi; Zhang, Zibo; Liu, Jingyu; Jiang, Fagang; Wang, Qing; Liu, Mugen

2010-03-17

To identify the disease-causing gene in a four-generation Chinese family affected with retinitis pigmentosa (RP). Linkage analysis was performed with a panel of microsatellite markers flanking the candidate genetic loci of RP. These loci included 38 known RP genes. The complete coding region and exon-intron boundaries of Usher syndrome 2A (USH2A) were sequenced with the proband DNA to screen the disease-causing gene mutation. Restriction fragment length polymorphism (RFLP) analysis and direct DNA sequence analysis were done to demonstrate co-segregation of the USH2A mutations with the family disease. One hundred normal controls were used without the mutations. The disease-causing gene in this Chinese family was linked to the USH2A locus on chromosome 1q41. Direct DNA sequence analysis of USH2A identified two novel mutations in the patients: one missense mutation p.G1734R in exon 26 and a splice site mutation, IVS32+1G>A, which was found in the donor site of intron 32 of USH2A. Neither the p.G1734R nor the IVS32+1G>A mutation was found in the unaffected family members or the 100 normal controls. One patient with a homozygous mutation displayed only RP symptoms until now, while three patients with compound heterozygous mutations in the family of study showed both RP and hearing impairment. This study identified two novel mutations: p.G1734R and IVS32+1G>A of USH2A in a four-generation Chinese RP family. In this study, the heterozygous mutation and the homozygous mutation in USH2A may cause Usher syndrome Type II or RP, respectively. These two mutations expand the mutant spectrum of USH2A.

Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).

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Zheng, Hui; Shao, Chong; Zheng, Yan; He, Jin-Wei; Fu, Wen-Zhen; Wang, Chun; Zhang, Zhen-Lin

2016-07-01

Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or rugger-jersey spine), the pelvis ("bone-within-bone" structures) and the skull base. Chloride channel 7 (CLCN7) has been reported to be the causative gene. In this study, we aimed to identify the pathogenic mutation in four Chinese families with ADO-II. All 25 exons of the CLCN7 gene, including the exon-intron boundaries, were amplified and sequenced directly in four probands from the Chinese families with ADO-II. The mutation site was then identified in other family members and 250 healthy controls. In family 1, a known missense mutation c.296A>G in exon 4 of CLCN7 was identified in the proband, resulting in a tyrosine (UAU) to cysteine (UGU) substitution at p.99 (Y99C); the mutation was also identified in his affected father. In family 2, a novel missense mutation c.865G>C in exon 10 was identified in the proband, resulting in a valine (GUC) to leucine (CUC) substitution at p.289 (V289L); the mutation was also identified in her healthy mother and sister. In family 3, a novel missense mutation c.1625C>T in exon 17 of CLCN7 was identified in the proband, resulting in an alanine (GCG) to valine (GUG) substitution at p.542 (A542V); the mutation was also identified in her father. In family 4, a hot spot, R767W (c.2299C>T, CGG>TGG), in exon 24 was found in the proband which once again proved the susceptibility of the site or the similar genetic background in different races. Moreover, two novel mutations, V289L and A542V, occurred at a highly conserved position, found by a comparison of the protein sequences from eight vertebrates, and were predicted to have a pathogenic effect by PolyPhen-2 software, which showed "probably damaging" with a score of approximately 1. These mutation sites were not identified in 250 healthy controls. Our present findings suggest that the novel missense

A Chinese Longitudinal Study on Work/Family Enrichment

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Lu, Luo

2011-01-01

Purpose: The purpose of this paper is to explore reciprocal relationships between work/family resources, work/family enrichment (WFE), and work/family satisfaction in a Chinese society. Design/methodology/approach: A longitudinal design was adopted using a three-wave panel sample. Data were obtained from 310 Taiwanese employees on three occasions,…

Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene

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Fang Hu

2014-10-01

Full Text Available AIM: To make comprehensive molecular diagnosis for retinitis pigmentosa (RP patients in a consanguineous Han Chinese family using next generation sequencing based Capture-NGS screen technology. METHODS: A five-generation Han Chinese family diagnosed as non-syndromic X-linked recessive RP (XLRP was recruited, including four affected males, four obligate female carriers and eleven unaffected family members. Capture-NGS was performed using a custom designed capture panel covers 163 known retinal disease genes including 47 RP genes, followed by the validation of detected mutation using Sanger sequencing in all recruited family members. RESULTS: Capture-NGS in one affected 47-year-old male reveals a novel mutation, c.2417_2418insG:p.E806fs, in exon ORF15 of RP GTPase regulator (RPGR gene results in a frameshift change that results in a premature stop codon and a truncated protein product. The mutation was further validated in three of four affected males and two of four female carriers but not in the other unaffected family members. CONCLUSION: We have identified a novel mutation, c.2417_2418insG:p.E806fs, in a Han Chinese family with XLRP. Our findings expand the mutation spectrum of RPGR and the phenotypic spectrum of XLRP in Han Chinese families, and confirms Capture-NGS could be an effective and economic approach for the comprehensive molecular diagnosis of RP.

The influence of Chinese culture on family caregivers of stroke survivors: A qualitative study.

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Qiu, Xichenhui; Sit, Janet W H; Koo, Fung Kuen

2018-01-01

To explore and describe the caregiving experiences of Chinese stroke caregivers. Previous research has indicated that culture can have a significant impact on the stroke caregiving experience. Moreover, scant research exists on stroke caregivers' experience within the Chinese culture. A qualitative descriptive design was used. In-depth, semistructured interviews were conducted with 25 family caregivers of stroke survivors. The interviews were audiotaped, transcribed and analysed. Content analysis was also performed. Twenty-five family caregivers of stroke survivors were recruited for the study. On average, respondents were 66 years old (range 45-82 years). Of 25 interviewees, 76% were female, 64% were spouse-caregivers and 36% were children-caregivers. Three themes reflecting the influence of Chinese culture on stroke caregiving emerged from the interviews. (i) Caregiving role perception. Informants accepted caregiving for the sick family member as an expected part of life, a culturally prescribed obligation and an expression of reciprocal love. (ii) Coping strategies. Connecting with family resources and connecting with inner strength were frequently reported coping strategies. (iii) Self-sacrifice. Informants identified self-reliance and feeling of restraint in their utilisation or access of formal caregiving service. Chinese caregivers sacrifice themselves for the care recipients regardless of the hardships and the neglect of their own health. Our findings provide a comprehensive and culturally sensitive perspective in understanding the experience of stroke caregivers in Chinese communities. Cultural and religious backgrounds were found to influence Chinese stroke caregivers' experience, coping strategies and self-sacrifice behaviour in idiosyncratic ways. Research on the practice of culture can serve as a basis for the formulation of specific policies and effective interventions for supporting stroke caregivers of different cultural backgrounds. © 2017 John

The modern Chinese family in light of economic and legal history.

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Huang, Philip C C

2011-01-01

Most social science theory and the currently powerful Chinese ideology of modernizationism assume that, with modern development, family-based peasant farm production will disappear, to be replaced by individuated industrial workers and the three-generation family by the nuclear family. The actual record of China’s economic history, however, shows the powerful persistence of the small family farm, as well as of the three-generation family down to this day, even as China’s GDP becomes the second largest in the world. China’s legal system, similarly, encompasses a vast informal sphere, in which familial principles operate more than individualist ones. And, in between the informal-familial and the formal-individualist, there is an enormous intermediate sphere in which the two tendencies are engaged in a continual tug of war. The economic behavior of the Chinese family unit reveals great contrasts with what is assumed by conventional economics. It has a different attitude toward labor from that of both the individual worker and the capitalist firm. It also has a different structural composition, and a different attitude toward investment, children’s education, and marriage. Proper attention to how Chinese modernity differs socially, economically, and legally from the modern West points to the need for a different kind of social science; it also lends social–economic substance to claims for a modern Chinese culture different from the modern West’s.

Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH

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Xiaodong Gu

2016-01-01

Full Text Available DFNA9 is a late-onset, progressive, autosomal dominantly inherited sensorineural hearing loss with vestibular dysfunction, which is caused by mutations in the COCH (coagulation factor C homology gene. In this study, we investigated a Chinese family segregating autosomal dominant nonsyndromic sensorineural hearing loss. We identified a missense mutation c.T275A p.V92D in the LCCL domain of COCH cosegregating with the disease and absent in 100 normal hearing controls. This mutation leads to substitution of the hydrophobic valine to an acidic amino acid aspartic acid. Our data enriched the mutation spectrum of DFNA9 and implied the importance for mutation screening of COCH in age related hearing loss with vestibular dysfunctions.

Raising Children in Chinese Immigrant Families: Evidence from the Research Literature

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Guo, Karen

2006-01-01

Children of Chinese culture are raised differently from children of other cultural groups. There is research evidence which contends that, regardless of where they live, the child-rearing practices within Chinese immigrant families are still influenced by Chinese traditional culture. Some studies also point out that Chinese immigrant parents…

Family Mastery Enhances Work Engagement in Chinese Nurses: A Cross-Lagged Analysis

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Lu, Chang-qin; Siu, Oi-ling; Chen, Wei-qing; Wang, Hai-jiang

2011-01-01

Based on Greenhaus and Powell's (2006) theory of work-family enrichment and the job demands-resources (JD-R) model of work engagement (Bakker & Demerouti, 2008), this study focused on the family-to-work enrichment process by investigating the effect of family mastery on work engagement in a Chinese context. A sample of 279 Chinese female…

Getting over the Patriarchal Barriers: Women's Management of Men's Smoking in Chinese Families

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Mao, Aimei

2015-01-01

Chinese family is a patriarchal power system. How the system influences young mothers' agency in managing family men's smoking is unknown. Applying a gender lens, this ethnographic study explored how mothers of young children in Chinese extended families reacted to men's smoking. The study sample included 29 participants from 22 families.…

Family allocentrism and its relation to adjustment among Chinese and Italian adolescents.

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Li, Jian-Bin; Delvecchio, Elisa; Lis, Adriana; Mazzeschi, Claudia

2018-03-21

Family allocentrism is a domain-specific collectivistic attribute referring to the family. This research tested the one-factor structure of the Family Allocentrism Scale (FAS), examined the association between family allocentrism and adjustment outcomes, and compared the factor means and the correlations with adjustment between Chinese and Italian adolescents. To this end, 484 Chinese and 480 Italian adolescents participated in the study by answering a battery of self-report measures. The results confirmed the one-factor structure of the FAS. Family allocentrism was related to a number of adjustment outcomes. More importantly, Chinese adolescents reported more family allocentrism than their Italian counterparts did, but the relations between family allocentrism and adjustment outcomes were equivalent in magnitude between the two samples. Collectively, these findings provide crucial evidence for the psychometric properties of the FAS and shed light on the importance of family allocentrism in promoting positive youth development from a cross-cultural perspective. Copyright © 2018 Elsevier B.V. All rights reserved.

Suffering in Silence: Impact of Tobacco Use on Communication Dynamics Within Vietnamese and Chinese Immigrant Families.

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Petersen, Anne Berit; Tsoh, Janice Y; Nguyen, Tung T; McPhee, Stephen J; Burke, Nancy J

2015-12-29

The goal of this project was to explore family communication dynamics and their implications for smoking cessation. We conducted 39 in-depth dyadic and individual qualitative interviews with 13 immigrant smoker-family member pairs of Vietnamese (n = 9 dyads, 18 individuals) and Chinese (n = 4 dyads, 8 individuals) descent, including seven current and six former smokers and 13 family members. All 13 dyadic and 26 individual interviews were analyzed using a collaborative crystallization process as well as grounded theory methods. We identified three interrelated pathways by which tobacco use in immigrant Vietnamese and Chinese families impacts family processes and communication dynamics. Using a two-dimensional model, we illustrate how the shared consequences of these pathways can contribute to a dynamic of avoidance and noncommunication, resulting in individual family members "suffering in silence" and ultimately smoking being reinforced. We discuss the implications of these findings for development of smoking cessation interventions. © The Author(s) 2015.

Family beliefs about diet and traditional Chinese medicine for Hong Kong women with breast cancer.

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Simpson, Peggy Burrows

2003-01-01

To explore beliefs about diet and traditional Chinese medicine related to the breast cancer experience of Hong Kong Chinese women and their families. Interpretive phenomenology. Hong Kong, China. A purposive sample of 20 Hong Kong Chinese women diagnosed with breast cancer at various stages of the illness trajectory and at least one other family member. A semistructured, three-hour interview was translated, transcribed, and back-translated. Many women and their family members believed that diet was responsible for their cancer and recurrence. They integrated their cultural beliefs about diet and traditional Chinese medicine to manage illness symptoms and prevent recurrence. Families were anxious and confused about conflicting messages from various sources about dietary practices to promote their health and prevent recurrence. Food and diet alternatives should be discussed with the understanding that beliefs about diet and traditional Chinese medicine are embedded in culture and that many Chinese women and their families seek a combination of Eastern Chinese medicine and Western medicine strategies to manage the illness trajectory. Many Chinese families have different beliefs about food and diet and the role that food plays in managing the cancer experience. Often, Chinese people will not seek clarification if they do not understand information. If information does not fit with their predominant belief systems, families may not implement it, nor will they discuss a situation if they think the conversation will result in a relationship of conflict with healthcare providers.

Mitochondrial C4375T mutation might be a molecular risk factor in a maternal Chinese hypertensive family under haplotype C.

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Chen, Hong; Sun, Min; Fan, Zhen; Tong, Maoqing; Chen, Guodong; Li, Danhui; Ye, Jihui; Yang, Yumin; Zhu, Yongding; Zhu, Jianhua

2017-12-04

Here, we reported a Han Chinese essential hypertensive pedigree based on clinical hereditary and molecular data. To know the molecular basis on this family, mitochondrial genome of one proband from the family was identified through direct sequencing analysis. The age of onset year and affected degree of patients are different in this family. And matrilineal family members carrying C4375T mutation and belong to Eastern Asian halopgroup C. Phylogenetic analysis shows 4375C is highly conservative in 17 species. It is suggested that these mutations might participate in the development of hypertension in this family. And halopgroup C might play a modifying role on the phenotype in this Chinese hypertensive family.

Association between Cognitive Distortion, Type D Personality, Family Environment, and Depression in Chinese Adolescents

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Yong Zhang

2011-01-01

Full Text Available Purpose. Depression prevalence and risk increase among adolescents are related to biological, psychosocial, and cultural factors. Little is known about the association between cognitive distortion, type D personality, family environment, and depression. The aim of this paper was to examine the relationships of cognitive distortion, type D personality, family environment, and depression in a sample of Chinese adolescents. Methods. A sample of Chinese adolescents with depression and the controls were investigated cross-sectionally with life orientation test-revised (LOT-R, type D personality Scale-14 (DS14, family environment scale (FES, and Zung self-depression scale (SDS; respectively, all scales were administered in Chinese. Results. Chinese-depressed adolescents showed more cognitive distortion, type D personality, and adverse family environment than control groups. Furthermore, lower level of Optimism, negative affectivity, and poor family cohesion may increase the risk of depression in Chinese adolescents. Conclusions. Our study indicates that lower level of Optimism, Negative Affectivity, and poor Family Cohesion factors were implicated to contribute to depression in Chinese adolescents. Lower level of optimism and negative affectivity may be crucial associated factors of depression among these samples. our findings pointed to the importance of broad screening and intervention of vulnerable population.

Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy

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Huang, Xiao-Yan; Zhuang, Hong; Wu, Ji-Hong; Li, Jian-Kang; Hu, Fang-Yuan; Zheng, Yu; Tellier, Laurent Christian Asker M.; Zhang, Sheng-Hai; Gao, Feng-Juan; Zhang, Jian-Guo

2017-01-01

Purpose Familial exudative vitreoretinopathy (FEVR) is a genetically and clinically heterogeneous disease, characterized by failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes of a given patient. This study was designed to identify the genetic defect in a patient cohort of ten Chinese families with a definitive diagnosis of FEVR. Methods To identify the causative gene, next-generation sequencing (NGS)-based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members by using Sanger sequencing and quantitative real-time PCR (QPCR). Results Of the cohort of ten FEVR families, six pathogenic variants were identified, including four novel and two known heterozygous mutations. Of the variants identified, four were missense variants, and two were novel heterozygous deletion mutations [LRP5, c.4053 DelC (p.Ile1351IlefsX88); TSPAN12, EX8Del]. The two novel heterozygous deletion mutations were not observed in the control subjects and could give rise to a relatively severe FEVR phenotype, which could be explained by the protein function prediction. Conclusions We identified two novel heterozygous deletion mutations [LRP5, c.4053 DelC (p.Ile1351IlefsX88); TSPAN12, EX8Del] using targeted NGS as a causative mutation for FEVR. These genetic deletion variations exhibit a severe form of FEVR, with tractional retinal detachments compared with other known point mutations. The data further enrich the mutation spectrum of FEVR and enhance our understanding of genotype–phenotype correlations to provide useful information for disease diagnosis, prognosis, and effective genetic counseling. PMID:28867931

Across Cultural and National Borders: Diasporic Chinese Family in Pushing Hands

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Qijun Han

2011-08-01

Full Text Available Being embedded in the interdisciplinary area of media and culture studies, this articlel explores the family melodrama in transnational Chinese cinema drawing upon theoretical discussions with regard to the historical emergence of melodrama in correspondence to, as Th. Elsaesser says, “periods of intense social and ideological crisis”. While serving as a reflection on the tension between tradition and modernity displayed in the domestic domain, Ang Lee’s Chinese-characterized family melodrama also illustrates the differences between Chinese and Hollywood family melodrama. Linked to the ongoing debate about “melodrama as a cross-cultural form”, in the process of analyzing the film text, our perceptions of generic dislocation or displacement, transcultural entanglements and globalization in light of contemporary cultural practices will be furthermore complicated.  

Family involvement for breast cancer decision making among Chinese-American women.

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Lee, Shiuyu Katie C; Knobf, M Tish

2016-12-01

To describe family involvement in decision making for primary treatment in Chinese-American women with early-stage breast cancer. Qualitative data were collected in 2003 from semi-structured questions in interviews with a sample of Chinese-American (ChA) women with breast cancer, who were recruited from the metropolitan New York area. Responses to the questions were written in Chinese immediately during the interview and read back to the subject for accuracy and validation. Content analysis was used to inductively code and analyze the data to generate themes. The participants consisted of 123 ChA women with early stage breast cancer with a mean age of 48.7 years (±9.3) and who had lived in the United States a median of 13.6 years. Support and Caring was the major theme that described family involvement in the breast cancer decision-making process. Gathering Information, Being There, Navigating the Health Care System, Maintaining Family Life and Making the Decision described the aspects of family support in the process. The majority of women described the treatment decision making as a collaborative supportive process with the family, but limited English fluency, strong opinions, lack of a shared perspective, distant living proximity and competing work responsibilities of family members were stressful for the women and perceived as non-supportive. Family involvement in health care decision making is culturally embedded in Asian populations. Culturally sensitive patient and family consultation strategies are needed to assist informed treatment decision making in Chinese-American women diagnosed with breast cancer. Copyright © 2015 John Wiley & Sons, Ltd. Copyright © 2015 John Wiley & Sons, Ltd.

Cultural and family challenges to managing type 2 diabetes in immigrant Chinese Americans.

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Chesla, Catherine A; Chun, Kevin M; Kwan, Christine M L

2009-10-01

Although Asians demonstrate elevated levels of type 2 diabetes, little attention has been directed to their unique cultural beliefs and practices regarding diabetes. We describe cultural and family challenges to illness management in foreign-born Chinese American patients with type 2 diabetes and their spouses. This was an interpretive comparative interview study with 20 foreign-born Chinese American couples (n = 40) living with type 2 diabetes. Multiple (six to seven) semistructured interviews with each couple in individual, group, and couple settings elicited beliefs about diabetes and narratives of care within the family and community. Interpretive narrative and thematic analysis were completed. A separate respondent group of 19 patients and spouses who met the inclusion criteria reviewed and confirmed the themes developed from the initial couples. Cultural and family challenges to diabetes management within foreign-born Chinese American families included how 1) diabetes symptoms challenged family harmony, 2) dietary prescriptions challenged food beliefs and practices, and 3) disease management requirements challenged established family role responsibilities. Culturally nuanced care with immigrant Chinese Americans requires attentiveness to the social context of disease management. Patients' and families' disease management decisions are seldom made independent of their concerns for family well-being, family face, and the reciprocal responsibilities required by varied family roles. Framing disease recommendations to include cultural concerns for balance and significant food rituals are warranted.

Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

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Bo Gong

2015-01-01

Full Text Available Retinitis pigmentosa (RP is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP in a Chinese family using next-generation sequencing technology. A Chinese family with 7 members including two individuals affected with severe early-onset RP was studied. All patients underwent a complete ophthalmic examination. Exome sequencing was performed on a single RP patient (the proband of this family and direct Sanger sequencing on other family members and normal controls was followed to confirm the causal mutations. A homozygous mutation c.437Tidentified as being related to the phenotype of this arRP family. This homozygous mutation was detected in the two affected patients, but not present in other family members and 600 normal controls. Another three normal members in the family were found to carry this heterozygous missense mutation. Our results emphasize the importance of c.437T

Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

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Wang, Xin; Zhao, Yuming; Yang, Yuan; Qin, Man

2015-01-01

Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI). Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junctional epidermolysis bullosa (JEB), while with only one mutant allele in the C-terminus of LAMB3, it could result in severe hypoplastic AI without skin fragility. We enrolled three Chinese families with hypoplastic autosomal-dominant AI. Despite the diagnosis falling into the same type, the characteristics of their enamel hypoplasia were different. Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples. Disease-causing mutations were identified and perfectly segregated with the enamel defects in three families: a 19-bp insertion mutation in the exon 7 of ENAM (c.406_407insTCAAAAAAGCCGACCACAA, p.K136Ifs*16) in Family 1, a single-base deletion mutation in the exon 5 of ENAM (c. 139delA, p. M47Cfs*11) in Family 2, and a LAMB3 nonsense mutation in the last exon (c.3466C>T, p.Q1156X) in Family 3. Our results suggest that heterozygous mutations in ENAM and LAMB3 genes can cause hypoplastic AI with markedly different phenotypes in Chinese patients. And these findings extend the mutation spectrum of both genes and can be used for mutation screening of AI in the Chinese population.

Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

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Xin Wang

Full Text Available Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI. Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junctional epidermolysis bullosa (JEB, while with only one mutant allele in the C-terminus of LAMB3, it could result in severe hypoplastic AI without skin fragility. We enrolled three Chinese families with hypoplastic autosomal-dominant AI. Despite the diagnosis falling into the same type, the characteristics of their enamel hypoplasia were different. Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples. Disease-causing mutations were identified and perfectly segregated with the enamel defects in three families: a 19-bp insertion mutation in the exon 7 of ENAM (c.406_407insTCAAAAAAGCCGACCACAA, p.K136Ifs*16 in Family 1, a single-base deletion mutation in the exon 5 of ENAM (c. 139delA, p. M47Cfs*11 in Family 2, and a LAMB3 nonsense mutation in the last exon (c.3466C>T, p.Q1156X in Family 3. Our results suggest that heterozygous mutations in ENAM and LAMB3 genes can cause hypoplastic AI with markedly different phenotypes in Chinese patients. And these findings extend the mutation spectrum of both genes and can be used for mutation screening of AI in the Chinese population.

Family Impacts on Self-Esteem in Chinese College Freshmen

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Jingyu Shi; Lu Wang; Yuhong Yao; Na Su; Xudong Zhao; Xudong Zhao; Fazhan Chen

2017-01-01

This study examined the impact of family function and family-related factors, such as being an only child, grandparenting, income, and family relationship on the self-esteem in college students who are in the transitional period from late adolescence to emerging adulthood. The participants were 2001 Chinese college freshmen with the age from 16 to 20 years. Data were collected by using the family assessment device (FAD), the Rosenberg Self-esteem Scale, and self-report of family information. ...

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.

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Lu, Qian; Yuan, Lamei; Xu, Hongbo; Huang, Xiangjun; Yang, Zhijian; Yi, Junhui; Ni, Bin; Chen, Yong; Deng, Hao

2017-03-01

Oculocutaneous albinism (OCA) is a group of heterogeneous and autosomal recessive disorders characterized by a reduction or complete loss of melanin biosynthesis in melanocytes. OCA type 1 (OCA1) is the most severe and common form of OCA, and is caused by mutations in the tyrosinase gene (TYR). The present study aimed to identify the genetic cause of OCA1 in a four‑generation consanguineous Chinese Han family. Complete physical examinations were performed and blood samples were collected from five members of the family and 100 unrelated healthy controls. Exome sequencing was conducted in the proband, followed by verification in other family members, using Sanger sequencing. Patients in the family presented with typical OCA1 features, including hypopigmentation of the skin and hair, and distinctive ocular changes. A homozygous missense variant, c.896G>A (p.R299H), in the TYR gene was identified in two patients, which co‑segregated with disease in the family. This variant was not present in the 100 healthy controls. These results expand the number of mutations identified to be responsible for OCA1 in the Chinese Han population, and may have implications for genetic counseling and clinical management of the disease.

A novel mutation in PAX3 associated with Waardenburg syndrome type I in a Chinese family.

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Xiao, Yun; Luo, Jianfen; Zhang, Fengguo; Li, Jianfeng; Han, Yuechen; Zhang, Daogong; Wang, Mingming; Ma, Yalin; Xu, Lei; Bai, Xiaohui; Wang, Haibo

2016-01-01

The novel compound heterozygous mutation in PAX3 was the key genetic reason for WS1 in this family, which was useful to the molecular diagnosis of WS1. Screening the pathogenic mutations in a four generation Chinese family with Waardenburg syndrome type I (WS1). WS1 was diagnosed in a 4-year-old boy according to the Waardenburg syndrome Consortium criteria. The detailed family history revealed four affected members in the family. Routine clinical, audiological examination, and ophthalmologic evaluation were performed on four affected and 10 healthy members in this family. The genetic analysis was conducted, including the targeted next-generation sequencing of 127 known deafness genes combined with Sanger sequencing, TA clone and bioinformatic analysis. A novel compound heterozygous mutation c.[169_170insC;172_174delAAG] (p.His57ProfsX55) was identified in PAX3, which was co-segregated with WS1 in the Chinese family. This mutation was absent in the unaffected family members and 200 ethnicity-matched controls. The phylogenetic analysis and three-dimensional (3D) modeling of Pax3 protein further confirmed that the novel compound heterozygous mutation was pathogenic.

Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.

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Ma, Yalin; Xiao, Yun; Zhang, Fengguo; Han, Yuechen; Li, Jianfeng; Xu, Lei; Bai, Xiaohui; Wang, Haibo

2016-04-01

Mutations in MYO7A gene have been reported to be associated with Usher Syndrome type 1B (USH1B) and nonsyndromic hearing loss (DFNB2, DFNA11). Most mutations in MYO7A gene caused USH1B, whereas only a few reported mutations led to DFNB2 and DFNA11. The current study was designed to investigate the mutations among a Chinese family with autosomal recessive hearing loss. In this study, we present the clinical, genetic and molecular characteristics of a Chinese family. Targeted capture of 127 known deafness genes and next-generation sequencing were employed to study the genetic causes of two siblings in the Chinese family. Sanger sequencing was employed to examine those variant mutations in the members of this family and other ethnicity-matched controls. We identified the novel compound heterozygous mutant alleles of MYO7A gene: a novel missense mutation c.3671C>A (p.A1224D) and a reported insert mutation c.390_391insC (p.P131PfsX9). Variants were further confirmed by Sanger sequencing. These two compound heterozygous variants were co-segregated with autosomal recessive hearing loss phenotype. The gene mutation analysis and protein sequence alignment further supported that the novel compound heterozygous mutations were pathogenic. The novel compound heterozygous mutations (c.3671C>A and c.390_391insC) in MYO7A gene identified in this study were responsible for the autosomal recessive sensorineural hearing loss of this Chinese family. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families

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Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

2018-01-01

Waardenburg syndrome (WS) is an auditory-pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY-box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array-based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice-site mutation MITF c.909G>A in family 03 and an in-frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling. PMID:29115496

Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family

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Yongheng Duan

2017-08-01

Full Text Available Abstract X-linked intellectual disability (XLID has been associated with various genes. Diagnosis of XLID, especially for non-syndromic ones (NS-XLID, is often hampered by the heterogeneity of this disease. Here we report the case of a Chinese family in which three males suffer from intellectual disability (ID. The three patients shared the same phenotype: no typical clinical manifestation other than IQ score ≤ 70. For a genetic diagnosis for this family we carried out whole exome sequencing on the proband, and validated 16 variants of interest in the genomic DNA of all the family members. A missense mutation (c.710G > T, which mapped to exon 6 of the Rab GDP-Dissociation Inhibitor 1 (GDI1 gene, was found segregating with the ID phenotype, and this mutation changes the 237th position in the guanosine diphosphate dissociation inhibitor (GDI protein from glycine to valine (p. Gly237Val. Through molecular dynamics simulations we found that this substitution results in a conformational change of GDI, possibly affecting the Rab-binding capacity of this protein. In conclusion, our study identified a novel GDI1 mutation that is possibly NS-XLID causative, and showed that whole exome sequencing provides advantages for detecting novel ID-associated variants and can greatly facilitate the genetic diagnosis of the disease.

A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.

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Zhuang, Xiaotong; Wang, Lianqing; Song, Zixun; Xiao, Wei

2015-01-01

To investigate a novel insertion variant of CRYGD identified in a Chinese family with nuclear congenital cataract. A Chinese family with congenital nuclear cataract was recruited for the mutational screening of candidate genes by direct sequencing. Recombinant N-terminal Myc tagged wildtype or mutant CRYGD was expressed in HEK293T cells. The expression pattern, protein solubility and subcellular distribution were analyzed by western blotting and immunofluorescence. A novel insertion variant, c.451_452insGACT, in CRYGD was identified in the patients. It causes a frameshift and a premature termination of the polypeptide to become Y151*. A significantly reduced solubility was observed for this mutant. Unlike wildtype CRYGD, which existed mainly in the cytoplasm, Y151* was mis-located in the nucleus. We have identified a novel mutation, c.451_452insGACT, in CRYGD, which is associated with nuclear cataract. This is the first insertion mutation of CRYGD found to cause autosomal dominant congenital cataract. The mutant protein, with loss of solubility and localization to the nucleus, is hypothesized to be the major cause of cataract in these patients.

Perceived family and friend support and the psychological well-being of American and Chinese elderly persons.

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Poulin, John; Deng, Rong; Ingersoll, Travis Sky; Witt, Heather; Swain, Melanie

2012-12-01

This study examines two sources of informal support-perceived family and friend support-and the psychological well-being-self-esteem, depression and loneliness-of 150 Chinese and 145 American elders. There were no significant differences between the elderly American and Chinese persons' mean scores on family and friend support. The multiple linear regression analyses with interaction terms (country x family support and country x friend support), however, indicated that the relationship between family support and depression and family support and loneliness was stronger for the Chinese elderly than the US elderly. Conversely, the relationship between friend support and depression and friend support and loneliness is stronger for US elderly than Chinese elderly. The implications of these findings for social work practice in both countries is discussed.

On Chinese and Western Family Trees: Mechanism and Performance

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Elton S SIQUEIRA

2016-10-01

Full Text Available Family tree is an efficient data structure to store the kinship information in a family. There are basically two kinds of trees: Western Family Tree (WFT and Oriental Family Tree such as Chinese Family Tree (CFT. To get an insight of their efficiency in the context of family kinship presentation and information extraction, in this paper we develop WFT and CFT presentation models and search algorithms, comparing their search performance and inherent mechanism. The study reveals that the computational cost is higher in CFT model, but it provides a greater gain in information retrieval and produces more details of the kinship between individuals in the family.

A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family.

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Li, Yapeng; Xu, Jianhua; Chen, Mingjie; Du, Binbin; Li, Qiaoli; Xing, Qinghe; Zhang, Yanzhou

2016-09-01

Previous studies demonstrated that patients with different FBN1 mutations often present more considerable phenotypic variation compared to different members of the related family carrying a same mutation. The purpose of our study was to identify pathogenic mutation and provide more information about genotype-phenotypic correlations in a large Chinese family with Marfan syndrome. 15 related family members from a Chinese 4-generation pedigree with Marfan syndrome underwent physical, ophthalmologic, radiological and cardiovascular examinations. The propositus has De Bakey III aortic dissection and didn't fulfill the revised Ghent criteria for Marfan syndrome. Nine family members have ectopia lentis and their echocardiogram was normal. Five other family members have no evidence of Marfan syndrome. Genomic DNA was isolated from blood leukocytes. The exome sequencing was employed on the propositus, then the Sanger sequencing was conducted for mutation verification in other 14 participants of this family. The causative mutation in FBN1 discovered in the propositus was a known heterozygous missense mutation, c.1633T>G (p.R545C), in exon 14 (NM 000138). This same mutation was also identified in all 9 ectopia lentis patients and one unaffected 8-year-old girl. However, the same mutation was not discovered in other 4 unaffected family members. Our data enhance the information of genotype-phenotype correlation owing to FBN1 mutations. To our current knowledge, we firstly reported that the same FBN1 mutation, c. 1633C>T (Arg545Cys), was detected simultaneously in three different cardinal phenotypes (ectopia lentis, aortic dissection and unaffected) within one family. The unaffected girl with FBN1 mutation may presumably represent a rare case of nonpenetrance. Copyright © 2016 Elsevier B.V. All rights reserved.

Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.

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He, Wei; Li, Xin; Chen, Jiajing; Xu, Ling; Zhang, Feng; Dai, Qiushi; Cui, Hao; Wang, Duen-Mei; Yu, Jun; Hu, Songnian; Lu, Shan

2011-03-01

The aim of the study was to characterize the underlying mutation in a large multiplex Chinese family with hereditary nuclear cataract. A 6-generation Chinese family having hereditary nuclear cataract was recruited and clinically verified. Blood DNA samples were obtained from 53 available family members. Linkage analyses were performed on the known candidate regions for hereditary cataract with 36 polymorphic microsatellite markers. To identify mutations related to cataract, a direct sequencing approach was applied to a candidate gene residing in our linkage locus. A linkage locus was identified with a maximum 2-point LOD score of 4.31 (recombination fraction = 0) at marker D1S498 and a maximum multipoint LOD score of 5.7 between markers D1S2344 and D1S498 on chromosome 1q21.1, where the candidate gene Cx50 is located. Direct sequencing of Cx50 showed a 139 G to A transition occurred in all affected family members. This transitional mutation resulted in a replacement of aspartic acid by asparagine at residue 47 (D47N) and led to a loss-of-function of the protein. The D47N mutation of Cx50 causes the hereditary nuclear cataract in this family in an autosomal dominant mode of inheritance with incomplete penetrance.

Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.

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Li, Aijun; Li, Bingzhen; Wu, Lemeng; Yang, Liping; Chen, Ningning; Ma, Zhizhong

2015-04-01

To identiy the disease causing mutation in a Chinese family presenting with early-onset cataract and dental anomalies. A specific Hereditary Eye Disease Enrichment Panel (HEDEP) (personalized customization by MyGenostics, Baltimore, MD) based on targeted exome capture technology was used to collect the protein coding regions of 30 early-onset cataract associated genes, and high throughput sequencing was done with Illumina HiSeq 2000 platform. The identified variant was confirmed with Sanger sequencing. A novel deletion in exon 4 (c.852delG) of NHS gene was identified; the identified 1 bp deletion altered the reading frame and was predicted to result in a premature stop codon after the addition of twelve novel amino acid (p.S285PfsX13). This mutation co-segregated in affected males and obligate female carriers, but was absent in 100 matched controls. Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients.

The changing meaning of family support among older Chinese and Korean immigrants.

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Wong, Sabrina T; Yoo, Grace J; Stewart, Anita L

2006-01-01

Our objective in this study was to examine how family social-support expectations have changed among older Chinese and Korean U.S. immigrants. Fifty-two Cantonese- and Korean-speaking immigrants older than 60 years participated in eight focus groups. Transcripts were translated into English. Themes were developed based on a coding structure and compared to past research. Participants discussed changed perspectives of family social support and the need to integrate both American and Chinese or Korean culture, thus becoming bicultural. Three distinct perspectives of family emerged: (1) participants felt they had become peripheral family members, (2) parents were no longer authority figures in families, and (3) participants were more independent. Finally, participants described how factors such as a changed economic environment, living alone, and extending their social network beyond family, promoted a move to biculturalism. These results suggest that the integration of two cultures, or biculturalism, is an indicator of successful adaptation to immigration later in life; older Chinese and Korean immigrants are adjusting to living in the United States and blending multiple cultures simultaneously. Thus, acculturation frameworks implying a linear process may not be theoretically valid as ethnic identity, particularly for those who immigrate to different countries, changes over the life course.

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.

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Liu, Fei; Li, Pengcheng; Liu, Ying; Li, Weirong; Wong, Fulton; Du, Rong; Wang, Lei; Li, Chang; Jiang, Fagang; Tang, Zhaohui; Liu, Mugen

2013-01-01

To identify the disease-causing mutation(s) in a Chinese family with autosomal recessive Usher syndrome type 1 (USH1). An ophthalmic examination and an audiometric test were conducted to ascertain the phenotype of two affected siblings. The microsatellite marker D11S937, which is close to the candidate gene MYO7A (USH1B locus), was selected for genotyping. From the DNA of the proband, all coding exons and exon-intron boundaries of MYO7A were sequenced to identify the disease-causing mutation(s). Restriction fragment length polymorphism (RFLP) analysis was performed to exclude the alternative conclusion that the mutations are non-pathogenic rare polymorphisms. Based on severe hearing impairment, unintelligible speech, and retinitis pigmentosa, a clinical diagnosis of Usher syndrome type 1 was made. The genotyping results did not exclude the USH1B locus, which suggested that the MYO7A gene was likely the gene associated with the disease-causing mutation(s) in the family. With direct DNA sequencing of MYO7A, two novel compound heterozygous mutations (c.3742G>A and c.6051+1G>A) of MYO7A were identified in the proband. DNA sequence analysis and RFLP analysis of other family members showed that the mutations cosegregated with the disease. Unaffected members, including the parents, uncle, and sister of the proband, carry only one of the two mutations. The mutations were not present in the controls (100 normal Chinese subjects=200 chromosomes) according to the RFLP analysis. In this study, we identified two novel mutations, c.3742G>A (p.E1248K) and c.6051+1G>A (donor splice site mutation in intron 44), of MYO7A in a Chinese non-consanguineous family with USH1. The mutations cosegregated with the disease and most likely cause the phenotype in the two affected siblings who carry these mutations compound heterozygously. Our finding expands the mutational spectrum of MYO7A.

Enabling Intrapreneurship : A Case of A Chinese Family Business and SMEs in Malaysia

OpenAIRE

Chia, Woan Tyng

2011-01-01

The objective of this study is to conduct an exploratory study into the intrapreneurial behavior in southeast Chinese family business firms. This is very much in response to the fact that current available literatures in corporate entrepreneurship are mainly focused on western well-established organizations. Whereas, the study of corporate entrepreneurship in Chinese family business context are still lacking.This study target discloses whether the enablers of corporate entrepreneurship, which...

Family care: an exploratory study of experience and expectations among older Chinese immigrants in Australia.

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Lo, Meihan; Russell, Cherry

2007-01-01

Family caregiving in East Asian cultures is traditionally based on the Confucian ethic of filial piety that mandates total, holistic care for elders. While research suggests changes in 'family care' are occurring in Asian countries themselves, remarkably little is known about immigrant Asian families in Australia. The study aimed to explore the experience of 'family care' among Chinese-speaking older people who have migrated to Australia in later life. In-depth interviews were conducted in Cantonese with a convenience sample of five cases, including six older Chinese and analysed inductively for dominant themes. Although no single model of 'family care' emerged, findings reveal significant departures from the norms of filial piety and an overall 'westernisation' of care practices, both in relation to what families actually do for their parents and what the older people themselves expect. Transformation of filial culture has implications for policy, service planning and professional practice. It cannot be assumed that elderly Chinese immigrants' needs are being met through traditional family structures.

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

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Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

2018-01-01

Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY‑box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array‑based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice‑site mutation MITF c.909G>A in family 03 and an in‑frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling.

Understanding and use of nicotine replacement therapy and nonpharmacologic smoking cessation strategies among Chinese and Vietnamese smokers and their families.

Science.gov (United States)

Tsang, Icarus K; Tsoh, Janice Y; Wong, Ching; Le, Khanh; Cheng, Joyce W; Nguyen, Anthony N; Nguyen, Tung T; McPhee, Stephen J; Burke, Nancy J

2014-02-20

Population-based studies have reported high rates of smoking prevalence among Chinese and Vietnamese American men. Although nicotine replacement therapy (NRT) is effective, recommended, and accessible without prescription, these populations underuse NRT for smoking cessation. The aim of this study was to assess understanding and use of NRT and nonpharmacologic treatments among Chinese and Vietnamese American male smokers and their families. In-depth qualitative interviews were conducted with 13 smoker-family pairs, followed by individual interviews with each participant. A total of 39 interviews were conducted in Vietnamese or Chinese, recorded, translated, and transcribed into English for analysis. Four themes were identified: use and understanding of NRT, nonpharmacologic strategies, familial and religious approaches, and willpower. Both smokers and their family members believed strongly in willpower and a sense of personal responsibility as the primary drivers for stopping smoking. Lack of these 2 qualities keeps many Chinese and Vietnamese men from using NRT to quit smoking. Those who do use NRT often use it incorrectly, following their own preferences rather than product instructions. Our findings indicate the importance of culturally appropriate patient education about NRT. It may be necessary to teach smokers and their families at an individual level about NRT as a complementary approach that can strengthen their resolve to quit smoking. At a community level, public health education on the indication and appropriate use of evidence-based smoking cessation resources, such as NRT, would be an important component of effective tobacco control.

The Association between Language Maintenance and Family Relations: Chinese Immigrant Children in Australia.

Science.gov (United States)

Tannenbaum, Michal; Howie, Pauline

2002-01-01

Investigated the relevance of emotional and familial factors to language maintenance in immigrant families. Information on the family relations of 40 children from Chinese-speaking immigrant families in Sydney, Australia. Analysis revealed that children likely to use their parents' mother tongue were those who perceived their family to be more…

A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.

Science.gov (United States)

Qin, Wei; Shu, Anli; Qian, Xueqing; Gao, Jianjun; Xing, Qinghe; Zhang, Juan; Zheng, Yonglan; Li, Xingwang; Li, Sheng; Feng, Guoyin; He, Lin

2006-08-28

The molecular characterization of 34 members of a Chinese family, with 22 members in four generations, affected with Waardenburg syndrome (WS1). A detailed family history and clinical data were collected. A genome-wide scan by two-point linkage analysis using more than 400 microsatellite markers in combination with haplotype analysis was performed. Mutation screening was carried out in the candidate gene by sequencing of amplified products. A maximum two-point lod score of 6.53 at theta = 0.00 was obtained with marker D2S2248. Haplotype analysis placed the WS1 locus to a 45.74 cM region between D2S117 and D2S206, in close proximity to the PAX3 gene on chromosome 2q35. Mutation screening in PAX3 identified a 701T > C mutation which converted a highly conserved Leu to Pro. This nucleotide alteration was neither seen in unaffected members of the family nor found in 50 unrelated control subjects. The present study identified a novel 701T > C mutation in PAX3. The mutation observed in this family highlights the phenotypic heterogeneity of the disorder.

Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.

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Bi, Hongyan; Gao, Yunying; Yao, Sheng; Dong, Mingrui; Headley, Alexander Peter; Yuan, Yun

2007-10-01

Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disorder of the peripheral nervous system characterized by marked progressive sensory loss, with variable autonomic and motor involvement. The HSAN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long chain base subunit 1 (SPTLC1). Sequencing in HSAN I families have previously identified mutations in exons 5, 6 and 13 of this gene. Here we report the clinical, electrophysiological and pathological findings of a proband in a Chinese family with HSAN I. The affected members showed almost typical clinical features. Electrophysiological findings showed an axonal, predominantly sensory, neuropathy with motor and autonomic involvement. Sural nerve biopsy showed loss of myelinated and unmyelinated fibers. SPTLC1 mutational analysis revealed the C133W mutation, a mutation common in British HSAN I families.

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.

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Tian, Qi; Li, Yunping; Kousar, Rizwana; Guo, Hui; Peng, Fenglan; Zheng, Yu; Yang, Xiaohua; Long, Zhigao; Tian, Runyi; Xia, Kun; Lin, Haiying; Pan, Qian

2017-01-07

Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males. Here, we report a four-generation Chinese family with multiple affected individuals presenting Nance-Horan Syndrome. Whole-exome sequencing combined with RT-PCR and Sanger sequencing was used to search for a genetic cause underlying the disease phenotype. Whole-exome sequencing identified in all affected individuals of the family a novel donor splicing site mutation (NM_198270: c.1045 + 2T > A) in intron 4 of the gene NHS, which maps to chromosome Xp22.13. The identified mutation results in an RNA processing defect causing a 416-nucleotide addition to exon 4 of the mRNA transcript, likely producing a truncated NHS protein. The donor splicing site mutation NM_198270: c.1045 + 2T > A of the NHS gene is the causative mutation in this Nance-Horan Syndrome family. This research broadens the spectrum of NHS gene mutations, contributing to our understanding of the molecular genetics of NHS.

A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

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Wang Xiaoqin

2007-12-01

Full Text Available Abstract Background Cleidocranial dysplasia (CCD is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development. The purpose of this study is to investigate the genetic basis of Chinese family with CCD. Methods Here, a large Chinese family with CCD and hyperplastic nails was recruited. The clinical features displayed a significant intrafamilial variation. We sequenced the coding region of the RUNX2 gene for the mutation and phenotype analysis. Results The family carries a c.T407C (p.L136P mutation in the DNA- and CBFβ-binding Runt domain of RUNX2. Based on the crystal structure, we predict this novel missense mutation is likely to disrupt DNA binding by RUNX2, and at least locally affect the Runt domain structure. Conclusion A novel missense mutation was identified in a large Chinese family with CCD with hyperplastic nails. This report further extends the mutation spectrum and clinical features of CCD. The identification of this mutation will facilitate prenatal diagnosis and preimplantation genetic diagnosis.

[Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease].

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Mei, Libin; Huang, Yanru; Pan, Qian; Liang, Desheng; Wu, Lingqian

2015-05-01

The purpose of the current research was to investigate the NDP (Norrie disease protein) gene in one Chinese family with Norrie disease (ND) and to characterize the related clinical features. Clinical data of the proband and his family members were collected. Complete ophthalmic examinations were carried out on the proband. Genomic DNA was extracted from peripheral blood leukocytes of 35 family members. Molecular analysis of the NDP gene was performed by polymerase chain reaction and direct sequencing of all exons and flanking regions. A hemizygous NDP missense mutation c.362G > A (p.Arg121Gln) in exon 3 was identified in the affected members, but not in any of the unaffected family individuals. The missense mutation c.362G > A in NDP is responsible for the Norrie disease in this family. This discovery will help provide the family members with accurate and reliable genetic counseling and prenatal diagnosis.

Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.

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Chen, Kaitian; Zong, Ling; Zhan, Yuan; Wu, Xuan; Liu, Min; Jiang, Hongyan

2015-05-01

Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling. Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with Waardenburg syndrome type II. Targeted genetic counseling was provided to this family. We identified a rare heterozygous dominant mutation c.621C>A (p.Y207X) in SOX10 gene in this family. The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics prediction suggested this variant to be disease-causing, probably due to nonsense-mediated mRNA decay. Useful genetic counseling was given to the family for prenatal guidance. Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Knowledge sharing in Chinese hospitals identifying sharing barriers in traditional Chinese and Western medicine collaboration

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Zhou, Lihong

2015-01-01

This book aims to identify, understand and qualify barriers to the patient-centred knowledge sharing (KS) in interprofessional practice of Traditional Chinese Medicine (TCM) and Western Medicine (WM) healthcare professionals in Chinese hospitals.  This collaboration is particularly crucial and unique to China since, contrary to Western practice, these two types of professionals actually work together complimentary in the same hospital. This study adopted a Grounded Theory approach as the overarching methodology to guide the analysis of the data collected in a single case-study design.  A public hospital in central China was selected as the case-study site, at which 49 informants were interviewed by using semi-structured and evolving interview scripts.  The research findings point to five categories of KS barriers: contextual influences, hospital management, philosophical divergence, Chinese healthcare education and interprofessional training.  Further conceptualising the research findings, it is identifie...

Genetic variants identified by GWAS was associated with colorectal cancer in the Han Chinese population

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Hui-Ping Qiao

2015-01-01

Full Text Available Aim of Study: Colorectal cancer (CRC, now the third most common cancer across the world, is known to aggregate in families. Recently, genome-wide association studies have identified two single nucleotide polymorphisms (SNP associated with CRC in Caucasians. Materials and Methods: To validate whether the same variations conferred risk to CRC in the Han Chinese population, we genotyped 760 individuals (380 controls and 380 cases samples recruited from the Han Chinese origin. Results: We found rs11987193 in 8p12 (P = 0.0472 after correction, OR = 0.751 was significantly associated with CRC but rs12080929 in 1p33 (P = 0.0650 after correction, OR = 0.750 was not. Conclusion: Our findings supported that rs11987193 is a susceptibility locus for CRC, and gene DUSP4 was possible to play a role in the pathology of CRC.

Association between Cognitive Distortion, Type D Personality, Family Environment, and Depression in Chinese Adolescents

OpenAIRE

Zhang, Yong; Li, Hengfen; Zou, Shaohong

2011-01-01

Purpose. Depression prevalence and risk increase among adolescents are related to biological, psychosocial, and cultural factors. Little is known about the association between cognitive distortion, type D personality, family environment, and depression. The aim of this paper was to examine the relationships of cognitive distortion, type D personality, family environment, and depression in a sample of Chinese adolescents. Methods. A sample of Chinese adolescents with depression and the con...

Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy

International Nuclear Information System (INIS)

Qian Yaping; Zhou Xiangtian; Hu Yongwu; Tong Yi; Li Ronghua; Lu Fan; Yang Huanming; Mo Junqin; Qu Jia; Guan Minxin

2005-01-01

We report here the clinical, genetic, and molecular characterization of three Chinese families (WZ4, WZ5, and WZ6) with Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. Penetrances of visual impairment in these Chinese families were 33.3%, 35.7%, and 35.5%, respectively, with an average 34.8%. Furthermore, the average age-at-onset in those Chinese families was 17, 20, and 18 years. In addition, the ratios between affected male and female matrilineal relatives in these Chinese families were 3:0, 1:1, and 1.2:1, respectively. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical G11778A mutation associated with LHON in many families. The fact that mtDNA of those pedigrees belonged to different haplogroups F1, D4, and M10 suggested that the G11778A mutation occurred sporadically and multiplied through evolution of the mtDNA in China. However, there was the absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in these Chinese families. The I187T mutation in the ND1, the S99A mutation in the A6, the V254I in CO3, and I58V in ND6 mutation, showing high evolutional conservation, may contribute to the phenotypic expression of the G11778A mutation in the WZ6 pedigree. By contrast, none of mtDNA variants are evolutionarily conserved and implicated to have significantly functional consequence in WZ4 and WZ5 pedigrees. Apparently, these variants do not have a potential modifying role in the development of visual impairment associated with G11778A mutation in those two families. Thus, nuclear modifier gene(s) or environmental factor(s) seem to account for the penetrance and expressivity of LHON in these three Chinese families carrying the G11778A mutation

Chinese traders in Serbia: Gender opportunities, translocal family strategies, and transnational mobility

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Maja Korać-Sanderson

2013-12-01

In this paper I focus on Chinese trading migration to Serbia. I argue that in choosing destinations for their businesses Chinese traders increasingly opt for underdeveloped regions and transition societies not because they provide good business opportunities measured by economic indicators alone. Rather, these destinations are chosen because they provide better opportunities for an entrepreneurial life embedded in self-reliance and self-management. Some of these opportunities, as my discussion will demonstrate, are importantly gendered, opening up new gender space for young families and for women in particular. My discussion will further point out that because business opportunities in Serbia do not necessarily imply desirable living conditions, Chinese traders diversify their family strategies, which are translocally and transnationally negotiated. In doing so, I argue, they become protagonists, actively involved in establishing their livelihoods and flexible ways of incorporation.

Supporting Pakistani and Chinese families with young children: perspectives of mothers and health visitors.

Science.gov (United States)

Hogg, R; de Kok, B; Netto, G; Hanley, J; Haycock-Stuart, E

2015-05-01

In the UK, public health nurses (health visitors) provide support and advice to families with young children, including those from minority ethnic communities. While the need for cultural sensitivity is being increasingly recognized, the factors which contribute to this sensitivity are poorly understood. The Pakistani and Chinese communities constitute the two largest minority ethnic groups in Scotland. This study explored Pakistani and Chinese women's experience of motherhood and of the health visiting service and public health nurses' experiences of working with Chinese and Pakistani mothers. Semi-structured individual interviews were carried out with 16 Pakistani and 15 Chinese mothers. Eight health visitors took part in two focus groups. The study was undertaken in an urban area of Scotland. Data were analysed thematically. Chinese and Pakistani mothers negotiate complex processes in order to ensure that their children maintain their own ethnic identity while fitting in with their peers in their adopted country. Health visitors were seen as supportive, although sometimes advice and information given was culturally inappropriate, and their role was often poorly understood. Health visitors were anxious to be sensitive to families' religious and cultural beliefs. Cultural sensitivity is an important factor in providing appropriate advice and help to Pakistani and Chinese families, and involves health visitors in considering views and practices on parenting which may differ across cultures, including their own. Family characteristics need to be understood on an individual basis, rather than making assumptions about clients' cultural norms and lifestyles. This is best achieved by exploring with mothers if they understand the advice and information they are being offered and also if it is appropriate to their cultural and religious beliefs. © 2014 John Wiley & Sons Ltd.

Economic development with limited supplies of family labor: Chinese peasant families in balancing demographic and economic requisites.

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Chang, K S

1991-07-01

Family planning (FP) in rural China, particularly the ramifications of the 1-child policy, has profound implications and ramifications for family-centered social and economic life in addition to demographic control. Under a constitutionally endorsed policy of strict birth control, favorable economic opportunities coexisted with the problem of familial labor shortages. Recent reform policies have led to a more relaxed FP environment. The Chinese state is in a dilemma between the need to allow peasant's autonomy in determining the familial work situation and the population pressure on the limited cultivated land. The Chinese experience of rural reform is examined in terms of the complex relationship between population change and economic development which are influenced by the production and welfare activities of the peasant family. The theoretical argument is that a family reliant strategy of economic reform undercuts the effectiveness of population control programs. The ultimate solution lies with sustained industrialization with high labor absorption. National trends and the Dahe People's Commune/Township experience are analyzed. Discussion is focused on the dilemma of FP and family production, old and new evidence of family size and economic performance, welfare outcome of family size, the role of the state in altering the demographic balance sheet, and the strategic response of peasant families to bring families of old designs back and urban migration and proletarianization. It is concluded that there is growing understanding that the causal relationships between population growth and economic development do not clearly support universal population control. Human social organization, not the man/land ratio, shapes the consequences of population growth. The implications for the Malthusian vs. Marxian debate for developing countries are that the resources/population imbalance needs to consider more carefully the human organizational factors. Mao's notions that a

A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.

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Liu, Hong Yan; Huang, Jia; Wang, Rui Li; Wang, Yue; Guo, Liang Jie; Li, Tao; Wu, Dong; Wang, Hong Dan; Guo, Qian Nan; Dong, Dao Quan

2016-11-01

Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. In this report, we describe a novel missense mutation of the Norrie disease gene (NDP) in a Chinese family with X-linked FEVR. Ophthalmologic evaluation was performed on four male patients and seven unaffected individuals after informed consent was obtained. Venous blood was collected from the 11 members of this family, and genomic DNA was extracted using standard methods. The coding exons 2 and 3 and their corresponding exon-intron junctions of NDP were amplified by polymerase chain reaction and then subjected to direct DNA sequencing. A novel missense mutation (c.310A>C) in exon 3, leading to a lysine-to-glutamine substitution at position 104 (p.Lys104Gln), was identified in all four patients with X-linked FEVR. Three unaffected female individuals (III2, IV3, and IV11) were found to be carriers of the mutation. This mutation was not detected in other unaffected individuals. The mutation c.310A>C (p.Lys104Gln) in exon 3 of NDP is associated with FEVR in the studied family. This result further enriches the mutation spectrum of FEVR. Copyright © 2016. Published by Elsevier Taiwan LLC.

A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy

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Hong Yan Liu

2016-11-01

Full Text Available Familial exudative vitreoretinopathy (FEVR is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. In this report, we describe a novel missense mutation of the Norrie disease gene (NDP in a Chinese family with X-linked FEVR. Ophthalmologic evaluation was performed on four male patients and seven unaffected individuals after informed consent was obtained. Venous blood was collected from the 11 members of this family, and genomic DNA was extracted using standard methods. The coding exons 2 and 3 and their corresponding exon–intron junctions of NDP were amplified by polymerase chain reaction and then subjected to direct DNA sequencing. A novel missense mutation (c.310A>C in exon 3, leading to a lysine-to-glutamine substitution at position 104 (p.Lys104Gln, was identified in all four patients with X-linked FEVR. Three unaffected female individuals (III2, IV3, and IV11 were found to be carriers of the mutation. This mutation was not detected in other unaffected individuals. The mutation c.310A>C (p.Lys104Gln in exon 3 of NDP is associated with FEVR in the studied family. This result further enriches the mutation spectrum of FEVR.

Cultural Orientation and Parent Emotion in the Chinese American Immigrant Family:

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Chen, Stephen H.

2012-01-01

The present dissertation used a developmental, sociocultural models approach to culture and emotion, and examined the prospective relations of immigrant parents' cultural orientations and their expression of emotion in the family context. Chinese American immigrant parents (n=210) with elementary-aged children were assessed at two time points approximately two years apart. Parents reported on their own and their children's patterns of engagement in both Chinese and American cultural domains. ...

Family Caregiver's Perception of Alzheimer's disease and caregiving in Chinese culture.

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Dai, Baozhen; Mao, Zongfu; Wu, Bei; Mei, Y John; Levkoff, Sue; Wang, Huali

2015-01-01

This study examined the perception of Alzheimer's disease (AD) and caregiving among family caregivers of individuals with mild cognitive impairment (MCI) and AD in China. In-depth semistructured interviews were conducted with 46 family caregivers of individuals with cognitive impairment in 2009 in Wuhan and Beijing, China. Participants included 38 spouses, 7 adult children, and 1 sibling, aged between 41 and 85 years old. The findings showed that all family caregivers thought the Chinese terminology of AD laonian chidai, brought discrimination to individuals with cognitive impairment. Caregivers of individuals with AD experienced burden and desired an increase of formal services. Traditional beliefs of respecting elders and caring for extended family members were held among family caregivers of individuals with cognitive impairment, and there was nearly no difference found between caregivers of AD and those of MCI. It implied that traditional culture provided positive influences on caring for elders with cognitive impairment. An alternative term for MCI may contribute to further reducing the discrimination brought by the old Chinese terminology of AD laonian chidai. Development of formal services for elders with cognitive impairment may contribute to reducing caregivers' worries about future caregiving.

Moderating Role of Acculturation in a Mediation Model of Work-Family Conflict among Chinese Immigrants in New Zealand.

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Shang, Sudong; O'Driscoll, Michael P; Roche, Maree

2017-02-01

This study examined the antecedents of work-family conflict (WFC) and the mediation effects of WFC on well-being consequences among Chinese immigrants to New Zealand, along with the moderating role of acculturation. Four types of WFC were explored: time-based and strain-based work interference with family, and time-based and strain-based family interference with work. Data were collected from 577 Chinese immigrants in New Zealand, who had full-time or part-time work and lived with family members in New Zealand. The four types of WFC were differentially related to the antecedents and well-being consequences, providing some evidence that both Chinese and New Zealand cultures may exert influences on Chinese immigrants' experiences of WFC. Both directions of WFC (work interference with family, and family interference with work) were related to job satisfaction and family satisfaction, and strain-based WFC influenced their well-being more than time-based WFC. Most importantly, we found immigrants who were proficient in English perceived greater WFC and psychological strain. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

Familial tumoral calcinosis in two Chinese patients: a case series

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Cheng Xiaoli

2011-08-01

Full Text Available Abstract Introduction Tumoral calcinosis is a rare and benign condition characterized by massive subcutaneous soft tissue deposits of calcium phosphate predominantly around large joints. Case presentation Familial tumoral calcinosis was present in two members of a Han Chinese family, namely, the son and daughter. The 14-year-old son had the first operation on his right sole of the foot at the age of six, and then experienced subsequent surgeries at a lesion in his right sole of the foot and left hip, respectively. The 16-year-old daughter underwent her first operation at the age of six in her left gluteal region, and subsequent surgeries were performed due to recurrence at the same lesion. Pathologic diagnoses of surgical specimens in both of the patients were reported as tumoral calcinosis. The laboratory results showed hyperphosphatemia with normal levels of serum calcium and alkaline phosphatase. Only surgical treatment was performed in both patients with satisfactory prognosis. Conclusion This is the first report of Chinese familial tumoral calcinosis. The etiopathogenisis and treatment are discussed.

A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family.

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Zhang, Xin-Yu; Jiang, Wei-Ying; Chen, Lu-Ming; Chen, Su-Qin

2013-01-01

To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND). Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disease pseudoglioma (NDP) gene were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Evolutionary comparisons and mutant open reading frame (ORF) prediction were also undertaken. Two family members with ocular manifestations were diagnosed with ND. No signs of sensorineural hearing loss were observed in either patient, while one of them showed signs of mild mental retardation. A novel heterozygous mutation in the NDP gene, c.-1_2delAAT, was detected in both patients. The mutation and the mutation bearing haplotype co-segregated with the ND phenotype in males and was transmitted from their mothers and/or grandmothers (II:2). The male without ND did not harbor the mutation. The mutation occurred at the highly conserved nucleotides. ORF finder predicted that the mutation would lead to the production of a truncated protein that lacks the first 11 N-terminal amino acids. A novel mutation, c.-1_2delAAT in the NDP gene, was identified in a Chinese family with ND. This mutation caused ND without obvious sensorineural hearing loss. Mental disorder was found in one but not the other patients. The clinical heterogeneity in the family indicated that other genetic variants and epigenetic factors may also play a role in the disease presentation.

A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.

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Naihong Yan

Full Text Available BACKGROUND: The purpose of this study was to elucidate the molecular basis of ocular albinism type I in a Chinese pedigree. METHODOLOGY/PRINCIPAL FINDINGS: Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in this five-generation family. All coding exons of four-point-one (4.1, ezrin, radixin, moesin (FERM domain-containing 7 (FRMD7 and G protein-coupled receptor 143 (GPR143 genes were amplified by polymerase chain reaction (PCR, sequenced and compared with a reference database. Ocular albinism and nystagmus were found in all patients of this family. Macular hypoplasia was present in the patients including the proband. A novel nonsense hemizygous mutation c.807T>A in the GPR143 gene was identified in four patients and the heterozygous mutation was found in seven asymptomatic individuals. This mutation is a substitution of tyrosine for adenine which leads to a premature stop codon at position 269 (p.Y269X of GPR143. CONCLUSIONS/SIGNIFICANCE: This is the first report that p.Y269X mutation of GPR143 gene is responsible for the pathogenesis of familial ocular albinism. These results expand the mutation spectrum of GPR143, and demonstrate the clinical characteristics of ocular albinism type I in Chinese population.

Language Choices of CEOs of Chinese Family Business in Sarawak, Malaysia

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Ting, Su-Hie

2017-01-01

The study investigated the language choices of Chief Executive Officers (CEOs) of Chinese family business and the factors guiding their choices. Interviews were conducted with 17 CEOs of family businesses located in Sarawak, some of whom are the sons and grandsons of the founder of the business. The results showed that all the CEOs can speak their…

Doing Ethnographic Research in Chinese Families - Reflections on Methodological Concerns from Two Asian Cities

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Esther Chor Leng Goh

2011-09-01

Full Text Available This paper compares and contrasts the ethnographic practices of two non-native researchers - a Singaporean researcher studying families in mainland China and a Swedish researcher studying Chinese families in Singapore. A novel conceptual frame of ‘radius of observation positions’ has been proposed to explicate the extent of intrusion and intimacy to which researchers may venture in the private family domain. The opportunities and challenges of two positions of observation within this radius are discussed. The choice of position is largely influenced by the interacting forces of the contextual and cultural factors as well as the personhood of the researcher. The authors call for special attention to cultural sensitivity in conducting Chinese family research. Families are embedded in culture, and the possibility of accessing family spaces hinges on one's awareness of the intricacies of family cultures and realistic assessment of one's strengths and limitations in handling complex family dynamics.

A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

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Yao, Ke; Jin, Chongfei; Zhu, Ning; Wang, Wei; Wu, Renyi; Jiang, Jin; Shentu, Xingchao

2008-07-09

To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family. Family history and phenotypic data were recorded, and the phenotypes were documented by slit lamp photography. The genomic DNA was extracted from peripheral blood leukocytes. All the exons and flanking intronic sequences of CRYGC and CRYGD were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Structural models of the wild type and mutant gammaC-crystallin were generated and analyzed by SWISS-MODEL. Sequencing of the coding regions of CRYGC and CRYGD showed the presence of a heterozygous C>A transversion at c.327 of the coding sequence in exon 3 of CRYGC (c.327C>A), which results in the substitution of a wild type cysteine to a nonsense codon (C109X). One and a half Greek key motifs at the COOH-terminus were found to be absent in the structural model of the mutant truncated gammaC-crystallin. A novel nonsense mutation in CRYGC was detected in a Chinese family with consistent autosomal dominant congenital nuclear cataract, providing clear evidence of a relationship between the genotype and the corresponding cataract phenotype.

Family Stress, Parenting Styles, and Behavioral Adjustment in Preschool-Age Adopted Chinese Girls

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Tan, Tony Xing; Camras, Linda A.; Deng, Huihua; Zhang, Minghao; Lu, Zuhong

2012-01-01

This study seeks to extend previous research on family stress, parenting, and child adjustment to families with adopted Chinese children. In doing so, we also seek to strengthen inferences regarding the experiential underpinnings of previously obtained relationships among these variables by determining if they also occur in families where parents…

De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.

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Chen, Kaitian; Zong, Ling; Liu, Min; Zhan, Yuan; Wu, Xuan; Zou, Wenting; Jiang, Hongyan

2014-06-01

Waardenburg syndrome is a rare genetic disorder, inherited as an autosomal dominant trait. The condition is characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. The de novo mutation in the SOX10 gene, responsible for Waardenburg syndrome type II, is rarely seen. The present study aimed to identify the genetic causes of Waardenburg syndrome type II in a Chinese family. Clinical and molecular evaluations were conducted in a Chinese family with Waardenburg syndrome type II. A novel SOX10 heterozygous c.259-260delCT mutation was identified. Heterozygosity was not observed in the parents and sister of the proband, indicating that the mutation has arisen de novo. The novel frameshift mutation, located in exon 3 of the SOX10 gene, disrupted normal amino acid coding from Leu87, leading to premature termination at nucleotide 396 (TGA). The high mobility group domain of SOX10 was inferred to be partially impaired. The novel heterozygous c.259-260delCT mutation in the SOX10 gene was considered to be the cause of Waardenburg syndrome in the proband. The clinical and genetic characterization of this family would help elucidate the genetic heterogeneity of SOX10 in Waardenburg syndrome type II. Moreover, the de novo pattern expanded the mutation data of SOX10. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Family structure, parent-child conversation time and substance use among Chinese adolescents

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Mak Kwok-Kei

2010-08-01

Full Text Available Abstract Background The family plays a vital role in shaping adolescent behaviours. The present study investigated the associations between family structure and substance use among Hong Kong Chinese adolescents. Methods A total of 32,961 Form 1 to 5 (grade 7-12 in the US Hong Kong students participated in the Youth Smoking Survey in 2003-4. An anonymous questionnaire was used to obtain information about family structure, daily duration of parent-child conversation, smoking, alcohol drinking and drug use. Logistic regression was used to calculate the adjusted odds ratios (OR for each substance use by family structure. Results Adjusting for sex, age, type of housing, parental smoking and school, adolescents from non-intact families were significantly more likely to be current smokers (OR = 1.62, weekly drinkers (OR = 1.72 and ever drug users (OR = 1.72, with significant linear increases in ORs from maternal, paternal to no-parent families compared with intact families. Furthermore, current smoking (OR = 1.41 and weekly drinking (OR = 1.46 were significantly more common among adolescents from paternal than maternal families. After adjusting for parent-child conversation time, the ORs for non-intact families remained significant compared with intact families, but the paternal-maternal differences were no longer significant. Conclusions Non-intact families were associated with substance use among Hong Kong Chinese adolescents. The apparently stronger associations with substance use in paternal than maternal families were probably mediated by the poorer communication with the father.

Parent-child cultural orientations and child adjustment in Chinese American immigrant families.

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Chen, Stephen H; Hua, Michelle; Zhou, Qing; Tao, Annie; Lee, Erica H; Ly, Jennifer; Main, Alexandra

2014-01-01

Direct and indirect/mediated relations of (a) children's and parents' cultural orientations and (b) parent-child gaps in cultural orientations to children's psychological adjustment were examined in a socioeconomically diverse sample of 258 Chinese American children (age = 6-9 years) from immigrant families. Parents reported on children's and their own Chinese and American orientations in language proficiency, media use, and social relationships. Parents and teachers rated children's externalizing and internalizing problems and social competence. Using structural equation modeling, we found evidence for both the effects of children's and parents' cultural orientations and the effects of parent-child gaps. Specifically, children's American orientations across domains were associated with their better adjustment (especially social competence). These associations were partly mediated by authoritative parenting. Parents' English and Chinese media use were both associated with higher authoritative parenting, which in turn was associated with children's better adjustment. Furthermore, greater gaps in parent-child Chinese proficiency were associated with children's poorer adjustment, and these relations were partly mediated by authoritative parenting. Together, the findings underscore the complex relations between immigrant families' dual orientations to the host and heritage cultures and children's psychological adjustment. PsycINFO Database Record (c) 2014 APA, all rights reserved.

Acculturative family distancing (AFD) and depression in Chinese American families.

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Hwang, Wei-Chin; Wood, Jeffrey J; Fujimoto, Ken

2010-10-01

Knowledge of acculturative processes and their impact on immigrant families remains quite limited. Acculturative family distancing (AFD) is the distancing that occurs between immigrant parents and their children and is caused by breakdowns in communication and cultural value differences. It is a more proximal and problem-focused formulation of the acculturation gap and is hypothesized to increase depression via family conflict. Data were collected from 105 Chinese American high school students and their mothers. Rasch modeling was used to refine the AFD measure, and structural equation modeling was used to determine the effects of AFD on youth and maternal depression. Findings indicate that greater AFD was associated with higher depressive symptoms and risk for clinical depression. Family conflict partially mediated this relation for youths, whereas for mothers, AFD directly increased risk for depression. Greater mother-child heritage enculturation discrepancies were associated with greater mother and child AFD. Mainstream acculturation discrepancies and language gaps between mothers and youths were not significantly associated with any of the primary outcome variables. Results highlight the need for better understanding of how AFD and other acculturation-gap phenomena affect immigrant mental health. They also underscore the need for prevention and intervention programs that target communication difficulties and intergenerational cultural value differences. Copyright 2010 APA, all rights reserved.

The Chinese Family in Transition: Implications for Education and Society in Modern Taiwan.

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Smith, Douglas C.

This paper investigates the challenges facing the modern Chinese family in Taiwan. An understanding of how culture and family life interact in other cultures may be useful in helping to understand such interactions in one's own society. Confucianism and family stability have been two enduring features of the protracted civilizations of China. In…

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease

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Liu, Deyuan; Hu, Zhengmao; Peng, Yu; Yu, Changhong; Liu, Yalan; Mo, Xiaoyun; Li, Xiaoping; Lu, Lina; Xu, Xiaojuan; Su, Wei; Pan, Qian; Xia, Kun

2010-01-01

Purpose Norrie disease (ND), a rare X-linked recessive disorder, is characterized by congenital blindness and, occasionally, mental retardation and hearing loss. ND is caused by the Norrie Disease Protein gene (NDP), which codes for norrin, a cysteine-rich protein involved in ocular vascular development. Here, we report a novel mutation of NDP that was identified in a Chinese family in which three members displayed typical ND symptoms and other complex phenotypes, such as cerebellar atrophy, ...

Preschool Predictors of Dyslexia Status in Chinese First Graders with High or Low Familial Risk

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Ho, Connie Suk-han

2014-01-01

The present 4-year longitudinal study examined preschool predictors of Grade 1 dyslexia status in a Chinese population in Hong Kong where children started learning to read at the age of three. Seventy-five and 39 Chinese children with high and low familial risk respectively were tested on Chinese word reading, oral language skills, morphological…

A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family

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Jing Liu

2016-01-01

Full Text Available Background: Congenital nystagmus (CN is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Chinese family with X-linked CN. Methods: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7 and G protein-coupled receptor 143 gene (GPR143 account for the majority patients of X-linked nystagmus. We collected 8 ml blood samples from members of a large sixth-generation pedigree with X-linked CN and 100 normal controls. FRMD7 and GPR143 were scanned by polymerase chain reaction (PCR-based DNA sequencing assays, and multiplex PCR assays were applied to detect deletions. Results: We identified a previously unreported deletion covering 7 exons in GPR143 in a Chinese family. The heterozygous deletion from exon 3 to exon 9 of GPR143 was detected in all affected males in the family, while it was not detected in other unaffected relatives or 100 normal controls. Conclusions: This is the first report of molecular characterization in GPR143 gene in the CN family. Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN.

Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing

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Lo, David; Weng, Jingning; Liu, xiaohong; Yang, Juhua; He, Fen; Wang, Yun; Liu, Xuyang

2016-01-01

PURPOSE To detect the disease-causing gene in a Chinese pedigree with autosomal-recessive retinitis pigmentosa (ARRP). METHODS All subjects in this family underwent a complete ophthalmic examination. Targeted-capture next generation sequencing (NGS) was performed on the proband to detect variants. All variants were verified in the remaining family members by PCR amplification and Sanger sequencing. RESULTS All the affected subjects in this pedigree were diagnosed with retinitis pigmentosa (RP). The compound heterozygous c.138delA (p.Asp47IlefsX24) and c.1841G>T (p.Gly614Val) mutations in the Crumbs homolog 1 (CRB1) gene were identified in all the affected patients but not in the unaffected individuals in this family. These mutations were inherited from their parents, respectively. CONCLUSION The novel compound heterozygous mutations in CRB1 were identified in a Chinese pedigree with ARRP using targeted-capture next generation sequencing. After evaluating the significant heredity and impaired protein function, the compound heterozygous c.138delA (p.Asp47IlefsX24) and c.1841G>T (p.Gly614Val) mutations are the causal genes of early onset ARRP in this pedigree. To the best of our knowledge, there is no previous report regarding the compound mutations. PMID:27806333

Understanding Chinese American Adolescents' Developmental Outcomes: Insights from the Family Stress Model

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Benner, Aprile D.; Kim, Su Yeong

2010-01-01

In this brief report, we investigated whether the Family Stress Model could be replicated with a sample of Chinese American families. Path analyses with 444 adolescents and their parents provided support for the model's generalizability. Specifically, mothers' and fathers' reports of economic status (i.e., income, financial, and job instability)…

The Efficacy of Parent-Child Interaction Therapy with Chinese Families: Randomized Controlled Trial

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Leung, Cynthia; Tsang, Sandra; Sin, Tammy C. S.; Choi, Siu-yan

2015-01-01

Objective: This study aimed to examine the efficacy of the Parent-Child Interaction Therapy (PCIT) in Hong Kong Chinese families, using randomized controlled trial design. Methods: The participants included 111 Hong Kong Chinese parents with children aged 2--7 years old, who were randomized into the intervention group (n = 54) and control group (n…

A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy

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Zhang, Juanjuan; Yuan, Yimin; Lin, Bing; Feng, Hao; Li, Yan; Dai, Xianning; Zhou, Huihui; Dong, Xujie; Liu, Xiao-Ling; Guan, Min-Xin

2012-01-01

Highlights: ► We report the characterization of a four-generation large Chinese family with ADOA. ► We find a new heterozygous mutation c.C1198G in OPA1 gene which may be a novel pathogenic mutation in this pedigree. ► We do not find any mitochondrial DNA mutations associated with optic atrophy. ► Other factors may also contribute to the phenotypic variability of ADOA in this pedigree. -- Abstract: A large four-generation Chinese family with autosomal dominant optic atrophy (ADOA) was investigated in the present study. Eight of the family members were affected in this pedigree. The affected family members exhibited early-onset and progressive visual impairment, resulting in mild to profound loss of visual acuity. The average age-at-onset was 15.9 years. A new heterozygous mutation c.C1198G was identified by sequence analysis of the 12th exon of the OPA1 gene. This mutation resulted in a proline to alanine substitution at codon 400, which was located in an evolutionarily conserved region. This missense mutation in the GTPase domain was supposed to result in a loss of function for the encoded protein and act through a dominant negative effect. No other mutations associated with optic atrophy were found in our present study. The c.C1198G heterozygous mutation in the OPA1 gene may be a novel key pathogenic mutation in this pedigree with ADOA. Furthermore, additional nuclear modifier genes, environmental factors, and psychological factors may also contribute to the phenotypic variability of ADOA in this pedigree.

A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family

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Xin-Yu Zhang

2013-12-01

Full Text Available AIM:To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND.METHODS:Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disease pseudoglioma (NDP gene were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Evolutionary comparisons and mutant open reading frame (ORF prediction were also undertaken.RESULTS:Two family members with ocular manifestations were diagnosed with ND. No signs of sensorineural hearing loss were observed in either patient, while one of them showed signs of mild mental retardation. A novel heterozygous mutation in the NDP gene, c.-1_2delAAT, was detected in both patients. The mutation and the mutation bearing haplotype co-segregated with the ND phenotype in males and was transmitted from their mothers and/or grandmothers (II:2. The male without ND did not harbor the mutation. The mutation occurred at the highly conserved nucleotides. ORF finder predicted that the mutation would lead to the production of a truncated protein that lacks the first 11 N-terminal amino acids.CONCLUSION:A novel mutation, c.-1_2delAAT in the NDP gene, was identified in a Chinese family with ND. This mutation caused ND without obvious sensorineural hearing loss. Mental disorder was found in one but not the other patients. The clinical heterogeneity in the family indicated that other genetic variants and epigenetic factors may also play a role in the disease presentation.

Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families

OpenAIRE

Wang, Xu-Lin; Yuan, Ying; Zhang, Su-Zhan; Cai, Shan-Rong; Huang, Yan-Qin; Jiang, Qiang; Zheng, Shu

2006-01-01

AIM: To analyze the clinical characteristics of Chinese hereditary nonpolyposis colorectal cancer (HNPCC) families and to screen the germline mutations of human mismatch repair genes hMLH1 and hMSH2 in the probands.

Parent-child cultural orientations and child adjustment in Chinese American immigrant families

OpenAIRE

Chen, SH; Hua, M; Zhou, Q; Tao, A; Lee, EH; Ly, J; Main, A

2014-01-01

Direct and indirect/mediated relations of (a) children's and parents' cultural orientations and (b) parent-child gaps in cultural orientations to children's psychological adjustment were examined in a socioeconomically diverse sample of 258 Chinese American children (age 6-9 years) from immigrant families. Parents reported on children's and their own Chinese and American orientations in language proficiency, media use, and social relationships. Parents and teachers rated children's externaliz...

Job Insecurity and Remuneration in Chinese Family-Owned Business Workers

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Hu, Qiao; Schaufeli, Wilmar B.

2011-01-01

Purpose: The purpose of this paper is to study the impact of job insecurity (past job downsizing and anticipated job downsizing) and current remuneration--via wellbeing (burnout and work engagement)--on organizational outcomes (organization commitment and low turnover intention) of Chinese family-owned business. Design/methodology/approach: The…

Neighborhood characteristics, parenting styles, and children's behavioral problems in Chinese American immigrant families.

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Lee, Erica H; Zhou, Qing; Ly, Jennifer; Main, Alexandra; Tao, Annie; Chen, Stephen H

2014-04-01

Using data from a socioeconomically diverse sample of Chinese American children (n = 258, aged 6-9 years) in immigrant families, we examined the concurrent relations among neighborhood economic disadvantage and concentration of Asian residents, parenting styles, and Chinese American children's externalizing and internalizing problems. Neighborhood characteristics were measured with 2000 U.S. Census tract-level data, parents (mostly mothers) rated their own parenting styles, and parents and teachers rated children's behavioral problems. Path analysis was conducted to test two hypotheses: (a) parenting styles mediate the relations between neighborhood characteristics and children's behavioral problems, and (b) children's behavioral problems mediate the relations between neighborhood and parenting styles. We found that neighborhood Asian concentration was positively associated with authoritarian parenting, which in turn was associated with Chinese American children's higher externalizing and internalizing problems (by parents' reports). In addition, neighborhood economic disadvantage was positively related to children's externalizing problems (by parents' reports), which in turn predicted lower authoritative parenting. The current results suggest the need to consider multiple pathways in the relations among neighborhood, family, and child adjustment, and they have implications for the prevention and intervention of behavioral problems in Chinese American children.

Stress and coping of Hong Kong Chinese family members during a critical illness.

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Chui, Winter Y-Y; Chan, Sally W-C

2007-02-01

The present study aimed to investigate the stress and coping strategies of Hong Kong Chinese families during a critical illness and to examine the relationships between stress and coping. Admissions to intensive care unit are usually an unanticipated event, which imposes stress on the family. Family's wellness is one of the significant factors affecting patient's well-beings. Much work has been conducted in Western societies. Stress and coping in Chinese families of critically ill patients have rarely been discussed. Structured face-to-face interviews were conducted, using the Impact of Events Scale and the Family Crisis Oriented Personal Evaluation Scales. A convenience sample of 133 participants was recruited from a regional hospital in Hong Kong. Many were patients' children with age between 30 and 49. A total of 39.1% (n = 52) of the participants were males and 60.9% (n = 81) were females. The participants experienced high level of stress (mean = 25.1, SD = 8.3). Higher level of stress were experienced by female (t = -4.6; d.f. = 1, 131; P = 0.00), those with lower educational attainment (F = 3.0; d.f. = 2, 130; P = 0.05) and those whose relatives were admitted to the intensive care unit unexpectedly (t = -2.2; d.f. = 1; P = 0.03). Patients' length of stay in the unit was significantly correlated with levels of stress (r = 0.5, P stress had significant correlation with coping strategies utilization (r = 0.5, P stress-coping pattern 'fatalistic voluntarism'. This study contributes to the understanding of Hong Kong Chinese families' stress and coping during a critical illness. Comprehensive assessments of family members' psychosocial needs are important to plan appropriate interventions to alleviate their stress and strengthen their coping skills. The findings will serve as guidance for nurses in delivering culturally sensitive and competent interventions.

IDENTIFYING COLLISIONAL FAMILIES IN THE KUIPER BELT

International Nuclear Information System (INIS)

Marcus, Robert A.; Ragozzine, Darin; Murray-Clay, Ruth A.; Holman, Matthew J.

2011-01-01

The identification and characterization of numerous collisional families-clusters of bodies with a common collisional origin-in the asteroid belt has added greatly to the understanding of asteroid belt formation and evolution. More recent study has also led to an appreciation of physical processes that had previously been neglected (e.g., the Yarkovsky effect). Collisions have certainly played an important role in the evolution of the Kuiper Belt as well, though only one collisional family has been identified in that region to date, around the dwarf planet Haumea. In this paper, we combine insights into collisional families from numerical simulations with the current observational constraints on the dynamical structure of the Kuiper Belt to investigate the ideal sizes and locations for identifying collisional families. We find that larger progenitors (r ∼ 500 km) result in more easily identifiable families, given the difficulty in identifying fragments of smaller progenitors in magnitude-limited surveys, despite their larger spread and less frequent occurrence. However, even these families do not stand out well from the background. Identifying families as statistical overdensities is much easier than characterizing families by distinguishing individual members from interlopers. Such identification seems promising, provided the background population is well known. In either case, families will also be much easier to study where the background population is small, i.e., at high inclinations. Overall, our results indicate that entirely different techniques for identifying families will be needed for the Kuiper Belt, and we provide some suggestions.

The Cinematic Depiction of Conflict Resolution in the Immigrant Chinese Family: The Wedding Banquet and Saving Face

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Qijun Han

2013-12-01

Full Text Available Both emphasising dilemmas that have been confronted by the Chinese-American family, Ang Lee’s The Wedding Banquet (1993 and Alice Wu’s Saving Face (2004 highlight the image of homosexuality as incompatible with traditional Chinese family values. Through detailed narrative analyses of these two films with a focus on the structure of the plot, the key characters, and camera work, this article aims to answer the questions of how traditional Chinese culture continues to play into and conflict with the experiences of modern Chinese American families and how each film presents and resolves the tensions arising from a culture in transition. The article argues that the importance of studying the ways in which the protagonists try to come to terms with incompatible value systems, lies in the capacity of film to reveal the complex negotiation between tradition and modernity, as well as the socio-cultural specificity of the conceptions of modernity.

Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.

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Zhengyue Li

Full Text Available Tectorial membrane, an extracellular matrix of the cochlea, plays a crucial role in the transmission of sound to the sensory hair cells. Alpha-tectorin is the most important noncollagenous component of the tectorial membrane and the otolith membrane in the maculae of the vestibular system. Defects in TECTA, the gene encodes alpha-tectorin, are cause of both dominant (DFNA8/12 and recessive (DFNB21 forms of deafness. Here, we report a three-generation Chinese family characterized by prelingual progressive sensorineural hearing impairment. We mapped the disease locus to chromosome 11q23-24 region, overlapping with the DFNA8/12 locus. Sequencing of candidate gene TECTA revealed a heterozygous c.5945C>A substitution in exon 19, causing amino acid substitution of Ala to Asp at a conservative position 1982. The A1982D substitution is consistent with hearing loss in this Chinese family and has not been found in 200 random control chromosomes. To our knowledge, this is the first TECTA mutation identified in Chinese population. Our data provides additional molecular and clinical information for establishing a better genotype-phenotype understanding of DFNA8/12.

Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.

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Liu, Yi; Song, Lijie; Ma, Doudou; Lv, Fang; Xu, Xiaojie; Wang, Jianyi; Xia, Weibo; Jiang, Yan; Wang, Ou; Song, Yuwen; Xing, Xiaoping; Asan; Li, Mei

2016-10-01

Osteogenesis imperfecta (OI) is a rare inherited disease characterized by increased bone fragility and vulnerability to fractures. Recently, WNT1 is identified as a new candidate gene for OI, here we detect pathogenic mutations in WNT1 and analyze the genotype-phenotype association in four Chinese families with OI. We designed a targeted next generation sequencing panel with known fourteen OI-related genes. We applied the approach to detect pathogenic mutations in OI patients and confirmed the mutations with Sanger sequencing and cosegregation analysis. Clinical fractures, bone mineral density (BMD) and the other clinical manifestations were evaluated. We also observed the effects of bisphosphonates in OI patients with WNT1 mutations. Four compound heterozygous mutations (c.110T>C; c.505 G>T; c. 385G>A; c.506 G>A) in WNT1 were detected in three unrelated families. These four mutations had not been reported yet. A recurrent homozygous mutation (c.506dupG) was identified in the other two families. These patients had moderate to severe OI, white to blue sclera, absence of dentinogenesis imperfecta and no brain malformation. We did not observe clear genotype-phenotype correlation in WNT1 mutated OI patients. Though bisphosphonates increased BMD in WNT1 related OI patients, height did not increase and fracture continued. We reported four novel heterozygous variants and confirmed a previous reported WNT1 mutation in four Chinese families with a clinical diagnosis of OI. Our study expanded OI spectrum and confirmed moderate to severe bone fragility induced by WNT1 defects. Copyright © 2016 Elsevier B.V. All rights reserved.

A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy

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Zhang, Juanjuan; Yuan, Yimin; Lin, Bing; Feng, Hao; Li, Yan [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou 325027, Zhejiang (China); Dai, Xianning; Zhou, Huihui [Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325035, Zhejiang (China); Dong, Xujie [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou 325027, Zhejiang (China); Liu, Xiao-Ling, E-mail: lxl@mail.eye.ac.cn [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou 325027, Zhejiang (China); Guan, Min-Xin, E-mail: min-xin.guan@cchmc.org [Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325035, Zhejiang (China); Institute of Genetics, Zhejiang University, Hangzhou, Zhejiang 310012 (China); Division of Human Genetics, Cincinnati Children' s Hospital Medical Center, OH 45229 (United States)

2012-03-23

Highlights: Black-Right-Pointing-Pointer We report the characterization of a four-generation large Chinese family with ADOA. Black-Right-Pointing-Pointer We find a new heterozygous mutation c.C1198G in OPA1 gene which may be a novel pathogenic mutation in this pedigree. Black-Right-Pointing-Pointer We do not find any mitochondrial DNA mutations associated with optic atrophy. Black-Right-Pointing-Pointer Other factors may also contribute to the phenotypic variability of ADOA in this pedigree. -- Abstract: A large four-generation Chinese family with autosomal dominant optic atrophy (ADOA) was investigated in the present study. Eight of the family members were affected in this pedigree. The affected family members exhibited early-onset and progressive visual impairment, resulting in mild to profound loss of visual acuity. The average age-at-onset was 15.9 years. A new heterozygous mutation c.C1198G was identified by sequence analysis of the 12th exon of the OPA1 gene. This mutation resulted in a proline to alanine substitution at codon 400, which was located in an evolutionarily conserved region. This missense mutation in the GTPase domain was supposed to result in a loss of function for the encoded protein and act through a dominant negative effect. No other mutations associated with optic atrophy were found in our present study. The c.C1198G heterozygous mutation in the OPA1 gene may be a novel key pathogenic mutation in this pedigree with ADOA. Furthermore, additional nuclear modifier genes, environmental factors, and psychological factors may also contribute to the phenotypic variability of ADOA in this pedigree.

Family Impacts on Self-Esteem in Chinese College Freshmen.

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Shi, Jingyu; Wang, Lu; Yao, Yuhong; Su, Na; Zhao, Xudong; Chen, Fazhan

2017-01-01

This study examined the impact of family function and family-related factors, such as being an only child, grandparenting, income, and family relationship on the self-esteem in college students who are in the transitional period from late adolescence to emerging adulthood. The participants were 2001 Chinese college freshmen with the age from 16 to 20 years. Data were collected by using the family assessment device (FAD), the Rosenberg Self-esteem Scale, and self-report of family information. Comparison analysis indicated that the students from one child families, harmonious families, from families with higher income, or raised by their parents without the experience of grandparenting are more likely to show high self-esteem than their counterparts. Moreover, a multiple regression showed that dimensions of FAD such as role, communication, behavioral control, and problem solving predicted level of self-esteem of the college students, ranging from 13.2 to 17.9% variance. The results of this study showed that the self-esteem of the college freshmen is highly correlated with their family's performance. Therefore, the program focusing on improving family functioning is needed, in order to enhance the self-esteem of the young people and hence contribute to promoting the mental health of them.

The experiences and needs of Chinese-Canadian stroke survivors and family caregivers as they re-integrate into the community.

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Yeung, Emily H L; Szeto, Amy; Richardson, Denyse; Lai, Suk-han; Lim, Eva; Cameron, Jill I

2015-09-01

Stroke is a leading cause of adult disability and community re-integration is a priority for stroke rehabilitation. In North America, we have a growing population of individuals whose first language is not English. Little is known about the experiences of visible minorities living in North America as they re-integrate into the community post stroke or how these experiences change over time. Specifically, this research aimed to explore the experiences and needs of Chinese stroke survivors and family caregivers as they return to community living using the Timing it Right Framework as a conceptual guide. We recruited Cantonese-speaking stroke survivors and family caregivers from outpatient rehabilitation programmes. Using qualitative interviews conducted in Cantonese or English, we examined their experiences and needs as they return to community living and explored the influence of culture and time on their experiences. The interviews were transcribed and translated, and then analysed using framework analysis. Using framework analysis, we coded the data corresponding to the phases of the Timing it Right framework to determine the influence of time on the themes. We interviewed five Cantonese-speaking stroke survivors and 13 caregivers in 2009. We identified two main themes: (i) Participants' education and support needs change over time and (ii) Chinese resources are needed across care environments. These resources include access to care in their preferred language, traditional Chinese medicine, and Chinese food during their recovery and rehabilitation. To optimise Chinese stroke survivors' and caregivers' community re-integration, healthcare professionals should provide timely and accessible education and be aware of the role of Chinese diet and traditional medicine in stroke survivors' rehabilitation. © 2014 John Wiley & Sons Ltd.

Family material hardship and chinese adolescents' problem behaviors: a moderated mediation analysis.

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Sun, Wenqiang; Li, Dongping; Zhang, Wei; Bao, Zhenzhou; Wang, Yanhui

2015-01-01

In the current study, we examined a moderated mediation model using the risk and resilience framework. Specifically, the impact of family material hardship on adolescent problem behaviors was examined in a Chinese sample; we used the family stress model framework to investigate parental depression and negative parenting as potential mediators of the relation between family material hardship and adolescents' problem behaviors. In addition, based on resilience theory, we investigated adolescents' resilience as a potential protective factor in the development of their internalizing and externalizing problems. Participants included 1,419 Chinese adolescents (mean age = 15.38 years, SD = 1.79) and their primary caregivers. After controlling for covariates (age, gender, location of family residence, and primary caregiver), we found that parental depression and negative parenting mediated the association between family material hardship and adolescents' problem behaviors. Furthermore, the adolescent resilience moderated the relationship between negative parenting and internalizing problems in a protective-stabilizing pattern; in addition, a protective-reactive pattern also emerged when adolescent resilience was examined as a moderator of the relationship between negative parenting and externalizing problems. These findings contribute to a comprehensive understanding of the mechanisms of risk and resilience in youth development. Moreover, the findings have important implications for the prevention of adolescent problem behaviors.

Family material hardship and chinese adolescents' problem behaviors: a moderated mediation analysis.

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Wenqiang Sun

Full Text Available In the current study, we examined a moderated mediation model using the risk and resilience framework. Specifically, the impact of family material hardship on adolescent problem behaviors was examined in a Chinese sample; we used the family stress model framework to investigate parental depression and negative parenting as potential mediators of the relation between family material hardship and adolescents' problem behaviors. In addition, based on resilience theory, we investigated adolescents' resilience as a potential protective factor in the development of their internalizing and externalizing problems. Participants included 1,419 Chinese adolescents (mean age = 15.38 years, SD = 1.79 and their primary caregivers. After controlling for covariates (age, gender, location of family residence, and primary caregiver, we found that parental depression and negative parenting mediated the association between family material hardship and adolescents' problem behaviors. Furthermore, the adolescent resilience moderated the relationship between negative parenting and internalizing problems in a protective-stabilizing pattern; in addition, a protective-reactive pattern also emerged when adolescent resilience was examined as a moderator of the relationship between negative parenting and externalizing problems. These findings contribute to a comprehensive understanding of the mechanisms of risk and resilience in youth development. Moreover, the findings have important implications for the prevention of adolescent problem behaviors.

Family Material Hardship and Chinese Adolescents’ Problem Behaviors: A Moderated Mediation Analysis

Science.gov (United States)

Sun, Wenqiang; Li, Dongping; Zhang, Wei; Bao, Zhenzhou; Wang, Yanhui

2015-01-01

In the current study, we examined a moderated mediation model using the risk and resilience framework. Specifically, the impact of family material hardship on adolescent problem behaviors was examined in a Chinese sample; we used the family stress model framework to investigate parental depression and negative parenting as potential mediators of the relation between family material hardship and adolescents’ problem behaviors. In addition, based on resilience theory, we investigated adolescents’ resilience as a potential protective factor in the development of their internalizing and externalizing problems. Participants included 1,419 Chinese adolescents (mean age = 15.38 years, SD = 1.79) and their primary caregivers. After controlling for covariates (age, gender, location of family residence, and primary caregiver), we found that parental depression and negative parenting mediated the association between family material hardship and adolescents’ problem behaviors. Furthermore, the adolescent resilience moderated the relationship between negative parenting and internalizing problems in a protective-stabilizing pattern; in addition, a protective-reactive pattern also emerged when adolescent resilience was examined as a moderator of the relationship between negative parenting and externalizing problems. These findings contribute to a comprehensive understanding of the mechanisms of risk and resilience in youth development. Moreover, the findings have important implications for the prevention of adolescent problem behaviors. PMID:26010256

Family Impacts on Self-Esteem in Chinese College Freshmen

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Jingyu Shi

2017-12-01

Full Text Available This study examined the impact of family function and family-related factors, such as being an only child, grandparenting, income, and family relationship on the self-esteem in college students who are in the transitional period from late adolescence to emerging adulthood. The participants were 2001 Chinese college freshmen with the age from 16 to 20 years. Data were collected by using the family assessment device (FAD, the Rosenberg Self-esteem Scale, and self-report of family information. Comparison analysis indicated that the students from one child families, harmonious families, from families with higher income, or raised by their parents without the experience of grandparenting are more likely to show high self-esteem than their counterparts. Moreover, a multiple regression showed that dimensions of FAD such as role, communication, behavioral control, and problem solving predicted level of self-esteem of the college students, ranging from 13.2 to 17.9% variance. The results of this study showed that the self-esteem of the college freshmen is highly correlated with their family’s performance. Therefore, the program focusing on improving family functioning is needed, in order to enhance the self-esteem of the young people and hence contribute to promoting the mental health of them.

Family Impacts on Self-Esteem in Chinese College Freshmen

Science.gov (United States)

Shi, Jingyu; Wang, Lu; Yao, Yuhong; Su, Na; Zhao, Xudong; Chen, Fazhan

2017-01-01

This study examined the impact of family function and family-related factors, such as being an only child, grandparenting, income, and family relationship on the self-esteem in college students who are in the transitional period from late adolescence to emerging adulthood. The participants were 2001 Chinese college freshmen with the age from 16 to 20 years. Data were collected by using the family assessment device (FAD), the Rosenberg Self-esteem Scale, and self-report of family information. Comparison analysis indicated that the students from one child families, harmonious families, from families with higher income, or raised by their parents without the experience of grandparenting are more likely to show high self-esteem than their counterparts. Moreover, a multiple regression showed that dimensions of FAD such as role, communication, behavioral control, and problem solving predicted level of self-esteem of the college students, ranging from 13.2 to 17.9% variance. The results of this study showed that the self-esteem of the college freshmen is highly correlated with their family’s performance. Therefore, the program focusing on improving family functioning is needed, in order to enhance the self-esteem of the young people and hence contribute to promoting the mental health of them. PMID:29312013

Neighborhood characteristics, parenting styles, and children's behavioral problems in Chinese American immigrant families

OpenAIRE

Lee, EH; Zhou, Q; Ly, J; Main, A; Tao, A; Chen, SH

2014-01-01

Using data from a socioeconomically diverse sample of Chinese American children (n = 258, aged 6-9 years) in immigrant families, we examined the concurrent relations among neighborhood economic disadvantage and concentration of Asian residents, parenting styles, and Chinese American children's externalizing and internalizing problems. Neighborhood characteristics were measured with 2000 U.S. Census tract-level data, parents (mostly mothers) rated their own parenting styles, and parents and te...

Young Children as Intercultural Mediators: Mandarin-Speaking Chinese Families in Britain

Science.gov (United States)

Guo, Zhiyan

2014-01-01

This multidisciplinary approach to cultural mediation brings together insights from anthropology, sociology, linguistics and intercultural communication to offer a detailed depiction of family life in immigrant Chinese communities. Utilising a strongly contextualised and evidence-based narrative approach to exploring the nature of child cultural…

Coparenting in immigrant Chinese Canadian families: the role of discrepancies in acculturation and expectations for adolescent assistance.

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Chance, Lauren J; Costigan, Catherine L; Leadbeater, Bonnie J

2013-12-01

For immigrant families, differential acculturation between mothers and fathers may present challenges to parenting adolescents. The current study investigated the concurrent relations among discrepancies in parental acculturation, discrepancies in parental expectations for adolescents, and coparenting quality with a sample of 162 married immigrant Chinese Canadian couples with adolescents (mean age = 14.94 years; SD = 1.73). Acculturation was assessed as parents' behavioral involvement in both Canadian and Chinese cultures. As predicted, mother-father differences in acculturation (in relation to both cultures) were related to discrepant expectations for how much adolescents should assist the family. Further, mother-father differences in Chinese acculturation were related to fathers' perceptions of a poorer coparenting relationship. Finally, this relation was partially mediated by discrepant parental expectations for adolescent assistance. Implications for parenting roles, enculturation, family dynamics, and intervention are considered.

Family Processes and Suicidal Ideation among Chinese Adolescents in Hong Kong

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Sylvia Y. C. L. Kwok

2011-01-01

Full Text Available Based on the responses of 5,557 Chinese secondary students in Hong Kong, the relationships between perceived family functioning (systemic correlate, parent-adolescent communication (dyadic correlate, and suicidal ideation were examined in this study. Results showed that suicidal ideation was negatively related to global family functioning and parent-adolescent communication. Regression analyses indicated that the dyadic and systemic factors had similar importance in predicting suicidal ideation. Theoretical and practical implications of the findings are discussed.

Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B.

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Wei, Xiaoming; Sun, Yan; Xie, Jiansheng; Shi, Quan; Qu, Ning; Yang, Guanghui; Cai, Jun; Yang, Yi; Liang, Yu; Wang, Wei; Yi, Xin

2012-11-20

Targeted enrichment and next-generation sequencing (NGS) have been employed for detection of genetic diseases. The purpose of this study was to validate the accuracy and sensitivity of our method for comprehensive mutation detection of hereditary hearing loss, and identify inherited mutations involved in human deafness accurately and economically. To make genetic diagnosis of hereditary hearing loss simple and timesaving, we designed a 0.60 MB array-based chip containing 69 nuclear genes and mitochondrial genome responsible for human deafness and conducted NGS toward ten patients with five known mutations and a Chinese family with hearing loss (never genetically investigated). Ten patients with five known mutations were sequenced using next-generation sequencing to validate the sensitivity of the method. We identified four known mutations in two nuclear deafness causing genes (GJB2 and SLC26A4), one in mitochondrial DNA. We then performed this method to analyze the variants in a Chinese family with hearing loss and identified compound heterozygosity for two novel mutations in gene MYO7A. The compound heterozygosity identified in gene MYO7A causes Usher Syndrome 1B with severe phenotypes. The results support that the combination of enrichment of targeted genes and next-generation sequencing is a valuable molecular diagnostic tool for hereditary deafness and suitable for clinical application. Copyright © 2012 Elsevier B.V. All rights reserved.

A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis.

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Jiang, Jingjing; Wang, Yuhui; Ling, Yan; Kayoumu, Abudurexiti; Liu, George; Gao, Xin

2016-01-16

The severe forms of hypertriglyceridemia are usually caused by genetic defects. In this study, we described a Chinese female with severe hypertriglyceridemia caused by a novel homozygous mutation in the APOC2 gene. Lipid profiles of the pedigree were studied in detail. LPL and HL activity were also measured. The coding regions of 5 candidate genes (namely LPL, APOC2, APOA5, LMF1, and GPIHBP1) were sequenced using genomic DNA from peripheral leucocytes. The ApoE gene was also genotyped. Serum triglyceride level was extremely high in the proband, compared with other family members. Plasma LPL activity was also significantly reduced in the proband. Serum ApoCII was very low in the proband as well as in the heterozygous mutation carriers. A novel mutation (c.86A > CC) was identified on exon 3 [corrected] of the APOC2 gene, which converted the Asp [corrected] codon at position 29 into Ala, followed by a termination codon (TGA). This study presented the first case of ApoCII deficiency in the Chinese population, with a novel mutation c.86A > CC in the APOC2 gene identified. Serum ApoCII protein might be a useful screening test for identifying mutation carriers.

Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation

International Nuclear Information System (INIS)

Qu Jia; Li Ronghua; Tong Yi; Hu Yongwu; Zhou Xiangtian; Qian Yaping; Lu Fan; Guan Minxin

2005-01-01

We report here the characterization of a five-generation large Chinese family with Leber's hereditary optic neuropathy (LHON). Very strikingly, six affected individuals of 38 matrilineal relatives (17 females/21 males) are exclusively males in this Chinese family. These matrilineal relatives in this family exhibited late-onset/progressive visual impairment with a wide range of severity, ranging from blindness to normal vision. The age of onset in visual impairment varies from 17 to 30 years. Sequence analysis of the complete mitochondrial genome in this pedigree revealed the presence of the G11778A mutation in ND4 gene and 29 other variants. This mitochondrial genome belongs to the Southern Chinese haplogroup B5b. We showed that the G11778A mutation is present at near homoplasmy in matrilineal relatives of this Chinese family but not in 164 Chinese controls. Incomplete penetrance of LHON in this family indicates the involvement of modulatory factors in the phenotypic expression of visual dysfunction associated with the G11778A mutation. However, none of other mtDNA variants are evolutionarily conserved and implicated to have significantly functional consequence. Thus, nuclear modifier gene(s) or environmental factor(s) seem to account for the penetrance and phenotypic variability of LHON in this Chinese family carrying the G11778A mutation

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

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Zhijie Niu

Full Text Available X-linked hearing impairment is the rarest form of genetic hearing loss (HL and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5 in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls. Subpopulation screening of the coding exons and flanking introns of SMPX was further performed for 338 Chinese patients with nonsydromic HL by Sanger sequencing, and another two potential causative substitutions (c.238C>A and c.55A>G in SMPX were identified in additional sporadic cases of congenital deafness. Collectively, this study is the first to report the role of SMPX in Chinese population and identify a novel frameshift mutation in SMPX that causes not only nonsyndromic late-onset progressive HL, but also congenital hearing impairment. Our findings extend the mutation and phenotypic spectrum of the SMPX gene.

A longitudinal daily diary study of family assistance and academic achievement among adolescents from Mexican, Chinese, and European backgrounds.

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Telzer, Eva H; Fuligni, Andrew J

2009-04-01

A longitudinal daily diary method was employed to examine the implications of family assistance for the academic achievement of 563 adolescents (53% female) from Mexican (n = 217), Chinese (n = 206), and European (n = 140) backgrounds during the high school years (mean age 14.9 years in 9th grade to 17.8 years in 12th grade). Although changes in family assistance time within individual adolescents were not associated with simultaneous changes in their Grade Point Averages (GPAs), increases in the proportion of days spent helping the family were linked to declines in the GPAs of students from Mexican and Chinese backgrounds. The negative implications of spending more days helping the family among these two groups was not explained by family background factors or changes in study time or school problems. These results suggest that the chronicity rather than the amount of family assistance may be difficult for adolescents from Mexican and Chinese backgrounds.

Trends and Determinants of Familial Consent for Corneal Donation in Chinese.

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Lee, Allie; Ni, Michael Y; Luk, Amanda C K; Lau, Jessie K P; Lam, Karen S Y; Li, Tom K; Wong, Catherine S M; Wong, Victoria W Y

2017-03-01

Corneal transplantation is the treatment of choice for many corneal diseases. At present, there is a global shortage of corneal transplant tissues, and failure to obtain consent from families of potential donors is a major limiting factor in tissue procurement. All family members of potential donors after cardiac death approached by the local eye bank staff members from January 2008 to December 2014 in Hong Kong were included. Reasons for consent or refusal and sociodemographic details of the deceased and the family members approached were reviewed. Trends in consent rates from 2008 to 2014 were examined. Multivariable logistic regression was performed to examine determinants of donation among cases from 2013 to 2014. A total of 1740 cases were identified. The overall consent rate was 36.8%, and the consent rate did not change significantly over the 7-year study period (P = 0.24). The most common reason for consent by family members was "the wish to help others" (86.0%), and the most common reason for refusal was "traditional Chinese culture to keep the body intact after death" (42.7%). From the multivariable analysis in the subset of cases from 2013 to 2014 (n = 628), family members were more likely to consent when the deceased was female (adjusted odds ratio 1.45, P = 0.03), with a do-not-resuscitate order (adjusted odds ratio 2.27, P < 0.001). The consent rate for eye donation did not change significantly from 2008 to 2014. Our findings suggest that health education and promotion campaigns need to address cultural barriers to organ donation.

Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

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Hong-Yang Wang

2015-01-01

Full Text Available Background: There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI, including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI. Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause. This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI. Methods: To decipher the genetic code of a Chinese family (family 686 with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing. These techniques were done on samples obtained from this family over a period of 10 years. Results: We identified a pathogenic missense mutation, c. 2081G>A (p.G694E, in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL. The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members. In one of the two patients, we confirmed that the compound heterozygosity for p.Y136FNx01 and p.G45E in the GJB2 gene may account for the phenotype shown in this patient. Conclusions: We identified the co-occurrence of two genetic causes in family 686. The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL. It is necessary to combine various genes screening methods, especially for some unconventional cases.

The applicability of the decisional conflict scale in nursing home placement decision among Chinese family caregivers: A mixed methods approach

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Yu-Ping Chang

2017-12-01

Full Text Available This study aimed to 1 examine relationships between uncertainty, perceived information, personal values, social support, and filial obligation among Chinese family caregivers faced with nursing home placement of an older adult family member with dementia; and 2 describe the applicability of the Decisional Conflict Scale in nursing home placement decision making among Chinese family caregivers through the integration of quantitative and qualitative data. We used a mixed-methods approach. Quantitative data analysis consisted of descriptive and correlational statistics. We utilized a thematic analysis for the qualitative data. Data transformation and data comparison techniques were used to combine qualitative and quantitative data. Thirty Chinese family caregivers living in Taiwan caring for an older adult with dementia participated in this study. We found a significant association among the quantitative findings, which indicated that perceived information, personal values, social support, and filial obligation, and nursing home placement decisional conflict. Mixed-method data analysis additionally revealed that conflicting differences existed between the traditional role of Chinese family collective decision making and the contemporary role of single family member surrogate decision making. Although the Decisional Conflict Scale can be utilized when exploring nursing home placement for an older adult with dementia among Chinese family caregivers, applicability issues existed regarding cultural beliefs and values related to filial piety and family collectivism. Findings strongly support the need for researchers to consider cultural beliefs and values when selecting tools that assess health-related decision making across cultures. Further research is needed to explore the role culture plays in nursing home decision making.

Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa

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Pan, Xinyuan; Chen, Xue; Liu, Xiaoxing; Gao, Xiang; Kang, Xiaoli; Xu, Qihua; Chen, Xuejuan; Zhao, Kanxing; Zhang, Xiumei; Chu, Qiaomei; Wang, Xiuying

2014-01-01

Purpose Seven genes involved in precursor mRNA (pre-mRNA) splicing have been implicated in autosomal dominant retinitis pigmentosa (adRP). We sought to detect mutations in all seven genes in Chinese families with RP, to characterize the relevant phenotypes, and to evaluate the prevalence of mutations in splicing genes in patients with adRP. Methods Six unrelated families from our adRP cohort (42 families) and two additional families with RP with uncertain inheritance mode were clinically characterized in the present study. Targeted sequence capture with next-generation massively parallel sequencing (NGS) was performed to screen mutations in 189 genes including all seven pre-mRNA splicing genes associated with adRP. Variants detected with NGS were filtered with bioinformatics analyses, validated with Sanger sequencing, and prioritized with pathogenicity analysis. Results Mutations in pre-mRNA splicing genes were identified in three individual families including one novel frameshift mutation in PRPF31 (p.Leu366fs*1) and two known mutations in SNRNP200 (p.Arg681His and p.Ser1087Leu). The patients carrying SNRNP200 p.R681H showed rapid disease progression, and the family carrying p.S1087L presented earlier onset ages and more severe phenotypes compared to another previously reported family with p.S1087L. In five other families, we identified mutations in other RP-related genes, including RP1 p. Ser781* (novel), RP2 p.Gln65* (novel) and p.Ile137del (novel), IMPDH1 p.Asp311Asn (recurrent), and RHO p.Pro347Leu (recurrent). Conclusions Mutations in splicing genes identified in the present and our previous study account for 9.5% in our adRP cohort, indicating the important role of pre-mRNA splicing deficiency in the etiology of adRP. Mutations in the same splicing gene, or even the same mutation, could correlate with different phenotypic severities, complicating the genotype–phenotype correlation and clinical prognosis. PMID:24940031

The Familial Risk and HLA Susceptibility among Narcolepsy Patients in Hong Kong Chinese

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Chen, Lei; Fong, S.Y.Y.; Lam, Ching W.; Tang, Nelson L.S.; Ng, Margaret H. L.; Li, Albert M.; Ho, C.K.W.; Cheng, Suk-Hang; Lau, Kin-Mang; Wing, Yun Kwok

2007-01-01

Study Objectives: To explore the familial aggregation and HLA susceptibility of narcolepsy in Hong Kong Chinese by objective sleep measurements and HLA typing. Design: Case control design Participants: Twelve narcoleptic probands, 34 first-degree relatives, and 30 healthy controls. Interventions: N/A Measurements and Results: Each subject underwent a standardized nocturnal polysomnogram (PSG), followed by a daytime multiple sleep latency test (MSLT). HLA typing was performed for all subjects. One relative (2.9%) was diagnosed as suffering from narcolepsy with cataplexy. Nearly 30% of the relatives fulfilled the criteria of narcolepsy spectrum disorder (shortened mean sleep latency [MSL] and/or the presence of sleep onset REM periods [SOREMPs]). When using the population data for comparison, the relative risk of narcolepsy in first-degree relatives was 85.3. The odds ratio of narcolepsy spectrum disorder in first-degree relatives was 5.8 (95% CI: 1.2 – 29.3) when compared to healthy controls. There existed 6 multiplex families, in which all 10 relatives with narcolepsy spectrum disorders, including all 3 relatives with multiple SOREMPs, were positive for HLA DQB1*0602. Conclusions: Our study demonstrated a definitive familial aggregation of narcolepsy, narcolepsy spectrum disorders, and possibly cataplexy in Hong Kong Chinese. This familial aggregation supported an inherited basis for narcolepsy spectrum. The tight co-segregation of HLA DQB1*0602 and narcolepsy spectrum disorders might suggest that HLA typing, especially DQB1*0602, at least partly confer the familial risk of narcolepsy. In addition, our study suggested that the subjective questionnaire measurements including Ullanlinna Narcolepsy Scale and Epworth Sleepiness Scale were unable to detect the presence of narcolepsy spectrum disorders among the relatives. A stringent objective measurement-based design for family studies is suggested for future study. Further studies are indicated for the determination

Living With Dementia: An Exploratory Study of Caregiving in a Chinese Family Context.

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Wong, Oi Ling; Kwong, Ping Sum; Ho, Candis Ka Yan; Chow, Susanna Miu Yee; Kwok, Timothy; Wong, Bel; Ho, Vennus; Lau, Andrew; Ho, Florence

2015-01-01

This qualitative study explored themes that described families taking care of elderly relatives with dementia in Chinese society. Ten families were invited for two in-depth family interviews involving spousal caregivers, child caregivers, and care recipients. Five themes resulted: positive affection as coping strategies, power and control in the caregiving relationship, adult children's involvement in caregiving, sibling rivalry, and intergenerational conflicts. The ways these themes functioned and helped in dementia care, the research implications, and limitations are discussed.

Seeking harmony in the provision of care to the stroke-impaired: views of Chinese family caregivers.

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Lee, Regina L T; Mok, Esther S B

2011-05-01

To explore the coping strategies of Chinese family caregivers of stroke-impaired older relatives. Many stroke-impaired patients rely heavily on support from their families, and the daily lives of such family caregivers are severely impacted. However, services and support for family caregivers of stroke-impaired relatives in the home setting have received little attention. Appropriate and relevant information and support to family caregivers are important in facilitating the care-giving task. It is, therefore, necessary to understand the nature and demands of care-giving before planning specific educational and support programmes. Grounded theory. Fifteen Chinese family caregivers of stroke-impaired older relatives were recruited and interviewed in 2003 and 2004. Theoretical sampling and constant comparative analysis were used to recruit the sample and perform data analysis. Seeking harmony to provide care for the stroke-impaired was the core category for describing and guiding the family care-giving process, with five main stages: (1) living with ambiguity, (2) monitoring the recovery progress, (3) accepting the downfalls, (4) meeting family obligations and (5) reconciling with harmony. These issues were seldom discussed openly with health professionals. The findings indicated that Chinese family caregivers determine their own needs by seeking harmony to continue to provide care without thinking about getting help from others or their own health problems. These findings help to define some of the complex dynamics that have an impact on the development of partnership care and might challenge nurses practising in the community. Community nurses should assess and understand the coping strategies of family caregivers and assist them to engage in stress-reducing practices. This is an important partnership to be formed in stroke care for family caregivers in the community. The study findings will guide further development of family care-giving aspects in nursing practice

Bridging Home and Host Country: Educational Predispositions of Chinese and Indian Recent Immigrant Families

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Gordon, June A.; Liu, Xiangyan

2015-01-01

This research focuses on the predispositions that recent Chinese and Indian immigrant families bring with them to the United States and how these are reinforced by the communities in which they locate. The findings draw from 144 interviews in California. Three themes dominate: positioning through schooling, transnational family, and extended…

Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia.

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Jing Sun

Full Text Available BACKGROUND: The WNT1-inducible signaling pathway protein 3 (WISP3, which belongs to the CCN (cysteine-rich protein 61, connective tissue growth factor, nephroblastoma overexpressed family, is a secreted cysteine-rich matricellular protein that is involved in chondrogenesis, osteogenesis and tumorigenesis. WISP3 gene mutations are associated with progressive pseudorheumatoid dysplasia (PPD, OMIM208230, an autosomal recessive genetic disease that is characterized by the swelling of multiple joints and disproportionate dwarfism. METHODOLOGY/PRINCIPAL FINDINGS: Four PPD patients from two unrelated Chinese families were recruited for this study. The clinical diagnosis was confirmed by medical history, physical examinations, laboratory results and radiological abnormalities. WISP3 mutations were detected by direct DNA sequence analysis. In total, four different mutations were identified, which consisted of two missense mutations, one deletion and one insertion that spanned exons 3, 5 and 6 of the WISP3 gene. One of the missense mutations (c.342T>G/p.C114W and a seven-base pair frameshift deletion (c.716_722del/p.E239fs*16 were novel. The other missense mutation (c.1000T>C/p. S334P and the insertion mutation (c.866_867insA/p.Q289fs*31 had previously been identified in Chinese patients. All four cases had a compound heterozygous status, and their parents were heterozygous carriers of these mutations. CONCLUSIONS/SIGNIFICANCE: The results of our study expand the spectrum of WISP3 mutations that are associated with PPD and further elucidate the function of WISP3.

A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.

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Chen, Qiang; Ma, Junjie; Yan, Ming; Mothobi, Maneo Emily; Liu, Yuanyuan; Zheng, Fang

2009-07-10

To identify the genetic defects associated with autosomal dominant congenital nuclear cataract in a Chinese family. Clinical data were collected, and the phenotypes of the affected members in this family were recorded by slit-lamp photography. Genomic DNA was isolated from peripheral blood. Mutations were screened in cataract-associated candidate genes through polymerase chain reaction (PCR) analyses and sequencing. Structural models of the wild-type and mutant alphaB-crystallin were generated and analyzed by SWISS-MODEL. Mutation screening identified only one heterozygous G-->A transition at nucleotide 32 in the first exon of alphaB-crystallin (CRYAB), resulting in an amino acid change from arginine to histidine at codon 11 (R11H). This mutation segregated in all available affected family members but was not observed in any of the unaffected persons of the family. The putative mutation disrupted a restriction site for the enzyme, Fnu4HI, in the affected family members. The disruption, however, was not found in any of the randomly selected ophthalmologically normal individuals or in 40 unrelated senile cataract patients. Computer-assisted prediction suggested that this mutation affected the biochemical properties as well as the structure of alphaB-crystallin. These results supported the idea that the novel R11H mutation was responsible for the autosomal dominant nuclear congenital cataract in this pedigree.

Identification of a novel SHOX mutation in a Chinese family with ...

Indian Academy of Sciences (India)

[Mei L., Huang Y., Pan Q., Li H., Liang D. and Wu L. 2014 Identification of a novel SHOX mutation in a Chinese family with isolated. Madelung deformity. J. Genet. ... females than males (Lichtenstein et al. 1980; Grigelioniene et al. 2001). .... proteins play critical roles in controlling the embryonic development in vertebrates ...

A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family

OpenAIRE

Zhang, Xin-Yu; Jiang, Wei-Ying; Chen, Lu-Ming; Chen, Su-Qin

2013-01-01

AIM:To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND).METHODS:Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disease pseudoglioma (NDP) gene were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Evolutionary comparisons and mutant open reading frame (ORF) prediction were also undertaken.RESULTS:Two fam...

Family and personal protective factors moderate the effects of adversity and negative disposition on smoking among Chinese adolescents.

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Arpawong, Thalida Em; Sun, Ping; Chang, Megan Chia-Chen; Gallaher, Peggy; Pang, Zengchang; Guo, Qian; Johnson, C Anderson; Unger, Jennifer

2010-07-01

Tobacco use among Chinese adolescents is increasing at approximately 80,000 new smokers per day. Assessing the causes for initiating tobacco use in China will be important in developing effective interventions and policies to stem rising prevalence rates. This study tested predictors of Resilience Theory in a sample of 602 Chinese adolescents. Results revealed that prior adversity, measured through school and family-related events, was significantly associated with increased smoking in females. Family factors (i.e., family cohesion, family adaptability, parental monitoring) and one personal factor (i.e., academic score) were associated with lower odds for smoking due to prior adversity and negative disposition.

Grandparent-grandchild family capital and self-rated health of older rural Chinese adults: the role of the grandparent-parent relationship.

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Lou, Vivian W Q; Lu, Nan; Xu, Ling; Chi, Iris

2013-07-01

This study tested the relationship between grandparent-grandchild family capital and self-rated health of older rural Chinese adults and the mediating role of the grandparent-parent relationship in terms of grandparent-grandchild family capital and self-rated health. Data were derived from a random sample of 1,027 adults aged 60 and older who were interviewed in the rural Chaohu region in 2009. Structural equation modeling was used to examine the direct effect of grandparent-grandchild family capital in terms of relations with the first child's family on self-rated health among respondents, as well as the mediating effect of the grandparent-parent relationship. The results showed the direct effect of grandparent-grandchild family capital on self-rated health of older rural Chinese adults. The grandparent-parent relationship had a partial mediation effect on the relationship between grandparent-grandchild family capital and self-rated health of respondents. Grandparent-grandchild family capital had a unique direct effect on the self-rated health of older rural Chinese adults, enriching our theoretical understanding of sources of family capital and their impacts in a collectivist cultural context that emphasizes intergenerational interaction and exchange. The findings also highlighted the mediation effects of grandparent-parent relationships on the relationship between grandparent-grandchild family capital and self-rated health of older rural Chinese adults, supporting the "grandchild-as-linkage" hypothesis in understanding the social determination of self-rated health in China.

The Development of Children's Ethnic Identity in Immigrant Chinese Families in Canada: The Role of Parenting Practices and Children's Perceptions of Parental Family Obligation Expectations

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Su, Tina F.; Costigan, Catherine L.

2009-01-01

Parents' role in children's ethnic identity development was examined among 95 immigrant Chinese families with young adolescents living in Canada. Children reported their feelings of ethnic identity and perceptions of parental family obligation expectations. Parents reported their family obligation expectations; parents and children reported on…

Association between sarcopenia with lifestyle and family function among community-dwelling Chinese aged 60 years and older.

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Hai, Shan; Wang, Hui; Cao, Li; Liu, Ping; Zhou, Jianghua; Yang, Ying; Dong, Birong

2017-08-18

Sarcopenia is defined as the age-related decline in skeletal muscle mass and function. The risk factors and causes of sarcopenia must be identified to develop prevention and treatment strategies for this syndrome. Our aim was to examine the association between sarcopenia with lifestyle and family function among community-dwelling Chinese people aged 60 years and older. We conducted this study to evaluate sarcopenia among 834 community-dwelling Chinese individuals aged ≥60 years using the Asian Working Group for Sarcopenia (AWGS) criteria. The sociodemographic characteristics, food consumption patterns, habits of smoking, and alcohol consumption of the participants were collected using a general questionnaire, whereas physical activity was assessed using the International Physical Activity Questionnaire (IPAQ; long-form version). Family function was assessed using the Family APGAR scale. In addition, the association of sarcopenia with lifestyle and family function was examined using univariate and multivariate analyses. The total prevalence rate of sarcopenia was 10.6%. Female participants with sarcopenia had a lower frequency per week of nut consumption than those without sarcopenia (p sarcopenia versus those without sarcopenia were not significant. Among the participants, the mean Family APGAR score was 8 (standard deviation [SD] = 0.92). For both sexes, participants with sarcopenia had lower family function scores than those without sarcopenia. In the multivariate model, after adjustment for all covariates, frequency per week of nut consumption (adjusted OR 0.724, 95% CI 0.532-0.985, P sarcopenia. The relationship between other lifestyle habits and sarcopenia was not significant. There was significant association between sarcopenia with intake of nuts and family function. Further studies should evaluate if adequate intake of nuts and a well-functioning family may be effective in lowering the risk of sarcopenia.

Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

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Xu, Wenjun; Dai, Hanjun; Lu, Tingting; Zhang, Xiaohui; Dong, Bing; Li, Yang

2011-01-01

To describe the clinical and genetic findings in one Chinese family with autosomal recessive retinitis pigmentosa (arRP) and in three unrelated Chinese families with Usher syndrome type II (USH2). One family (FR1) with arRP and three unrelated families (F6, F7, and F8) with Usher syndrome (USH), including eight affected members and seven unaffected family individuals were examined clinically. The study included 100 normal Chinese individuals as normal controls. After obtaining informed consent, peripheral blood samples from all participants were collected and genomic DNA was extracted. Genotyping and haplotyping analyses were performed on the known genetic loci for arRP with a panel of polymorphic markers in family FR1. In all four families, the coding region (exons 2-72), including the intron-exon boundary of the USH2A (Usher syndrome type -2A protein) gene, was screened by PCR and direct DNA sequencing. Whenever substitutions were identified in a patient, a restriction fragment length polymorphism (RFLP) analysis, single strand conformation polymorphism (SSCP) analysis, or high resolution melt curve analysis (HRM) was performed on all available family members and on the 100 normal controls. The affected individuals presented with typical fundus features of retinitis pigmentosa (RP), including narrowing of the vessels, bone-spicule pigmentation, and waxy optic discs. The electroretinogram (ERG) wave amplitudes of the available probands were undetectable. Audiometric tests in the affected individuals in family FR1 were normal, while indicating moderate to severe sensorineural hearing impairment in the affected individuals in families F6, F7, and F8. Vestibular function was normal in all patients from all four families. The disease-causing gene in family FR1 was mapped to the USH2A locus on chromosome 1q41. Seven novel mutations (two missenses, one 7-bp deletion, two small deletions, and two nonsenses) were detected in the four families after sequencing analysis of

Family and Personal Adjustment of Economically Disadvantaged Chinese Adolescents in Hong Kong

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Daniel T. L. Shek

2012-01-01

Full Text Available This study attempted to examine the relationship between poverty and adolescent developmental outcomes in the family and personal domains in 3,328 Chinese secondary school students in Hong Kong. Developmental outcomes included positive youth development constructs, problem behaviors, perceived family interaction, and parental parenting. Results showed that adolescents experiencing poverty did not differ from nonpoor adolescents in terms of risk behavior and in most indicators of positive youth development. On the other hand, adolescents with economic disadvantage displayed lower levels of positive identity, family interaction, and perceived paternal parenting than did those without economic disadvantage.

An automated technique to identify potential inappropriate traditional Chinese medicine (TCM) prescriptions.

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Yang, Hsuan-Chia; Iqbal, Usman; Nguyen, Phung Anh; Lin, Shen-Hsien; Huang, Chih-Wei; Jian, Wen-Shan; Li, Yu-Chuan

2016-04-01

Medication errors such as potential inappropriate prescriptions would induce serious adverse drug events to patients. Information technology has the ability to prevent medication errors; however, the pharmacology of traditional Chinese medicine (TCM) is not as clear as in western medicine. The aim of this study was to apply the appropriateness of prescription (AOP) model to identify potential inappropriate TCM prescriptions. We used the association rule of mining techniques to analyze 14.5 million prescriptions from the Taiwan National Health Insurance Research Database. The disease and TCM (DTCM) and traditional Chinese medicine-traditional Chinese medicine (TCMM) associations are computed by their co-occurrence, and the associations' strength was measured as Q-values, which often referred to as interestingness or life values. By considering the number of Q-values, the AOP model was applied to identify the inappropriate prescriptions. Afterwards, three traditional Chinese physicians evaluated 1920 prescriptions and validated the detected outcomes from the AOP model. Out of 1920 prescriptions, 97.1% of positive predictive value and 19.5% of negative predictive value were shown by the system as compared with those by experts. The sensitivity analysis indicated that the negative predictive value could improve up to 27.5% when the model's threshold changed to 0.4. We successfully applied the AOP model to automatically identify potential inappropriate TCM prescriptions. This model could be a potential TCM clinical decision support system in order to improve drug safety and quality of care. Copyright © 2016 John Wiley & Sons, Ltd.

Parent-Adolescent Discrepancies in Perceived Parenting Characteristics and Adolescent Developmental Outcomes in Poor Chinese Families.

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Leung, Janet T Y; Shek, Daniel T L

2014-01-01

We examined the relationships between parent-adolescent discrepancies in perceived parenting characteristics (indexed by parental responsiveness, parental demandingness, and parental control) and adolescent developmental outcomes (indexed by achievement motivation and psychological competence) in poor families in Hong Kong. A sample of 275 intact families having at least one child aged 11-16 experiencing economic disadvantage were invited to participate in the study. Fathers and mothers completed the Parenting Style Scale and Chinese Parental Control Scale, and adolescents completed the Social-Oriented Achievement Motivation Scale and Chinese Positive Youth Development Scale in addition to paternal and maternal Parenting Style Scale and Chinese Parental Control Scale. Results indicated that parents and adolescents had different perceptions of parental responsiveness, parental demandingness, and paternal control, with adolescents generally perceived lower levels of parenting behaviors than did their parents. While father-adolescent discrepancy in perceived paternal responsiveness and mother-adolescent discrepancy in perceived maternal control negatively predicted adolescent achievement motivation, mother-adolescent discrepancy in perceptions of maternal responsiveness negatively predicted psychological competence in adolescents experiencing economic disadvantage. The present findings provided support that parent-child discrepancies in perceived parenting characteristics have negative impacts on the developmental outcomes of adolescents experiencing economic disadvantage. The present study addresses parent-child discrepancies in perceived parental behaviors as "legitimate" constructs, and explores their links with adolescent psychosocial development, which sheds light for researchers and clinical practitioners in helping the Chinese families experiencing economic disadvantage.

Identifying Chinese Heritage Learners' Motivations, Learning Needs and Learning Goals: A Case Study of a Cohort of Heritage Learners in an Australian University

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Xu, Hui Ling; Moloney, Robyn

2014-01-01

There is increasing enrolment of Chinese heritage language learners in tertiary Chinese language classrooms across Australia. Educated in English, Chinese heritage learners are of diverse national origins and the Chinese language varieties to which they have been exposed through family or community are also diverse. Recent research in this field…

Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II.

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Wenzhi, He; Ruijin, Wen; Jieliang, Li; Xiaoyan, Ma; Haibo, Liu; Xiaoman, Wang; Jiajia, Xian; Shaoying, Li; Shuanglin, Li; Qing, Li

2015-10-01

Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness and pigment disturbance. To date, almost 100 mutations have been reported, but few reports on cases with SOX10 gene deletion. The inheritance pattern of SOX10 gene deletion is still unclear. Our objective was to identify the genetic causes of Waardenburg syndrome type II in a two-generation Chinese family. Clinical evaluations were conducted in both of the patients. Microarray analysis and multiplex ligation-dependent probe amplification (MLPA) were performed to identify disease-related copy number variants (CNVs). DNA sequencing of the SOX10, MITF and SNAI2 genes was performed to identify the pathogenic mutation responsible for WS2. A 280kb heterozygous deletion at the 22q13.1 chromosome region (including SOX10) was detected in both of the patients. No mutation was found in the patients, unaffected family members and 30 unrelated healthy controls. This report is the first to describe SOX10 heterozygous deletions in Chinese WS2 patients. Our result conform the thesis that heterozygous deletions at SOX10 is an important pathogenicity for WS, and present as autosomal dominant inheritance. Nevertheless, heterozygous deletion of the SOX10 gene would be worth investigating to understand their functions and contributions to neurologic phenotypes. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Ethnic Differences in Early Math Learning: A Comparison of Chinese-American and Caucasian-American Families.

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Huntsinger, Carol S.; And Others

This study compared Chinese-American and Caucasian-American children and families in order to better understand which cultural and family characteristics, parent beliefs, and parent practices operate at the early childhood level to produce the more uniform high level of math achievement among Asian-American children. Forty second-generation…

Understanding Hong Kong Chinese Families' Experiences of an Autism/ASD Diagnosis

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Tait, Kathleen; Fung, Francis; Hu, Aihua; Sweller, Naomi; Wang, Wei

2016-01-01

Little is known about the experience of Chinese parents of children diagnosed with autism spectrum disorders (ASD) living in the Hong Kong Special Administrative Region. Seventy-five parents of children (aged 6 months-18 years) with ASD diagnoses completed the Family Quality of Life Scale. Forty-five parents from the original surveyed cohort, also…

[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].

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Qi, Yan-hua; Dang, Xiu-hong; Su, Hong; Zhou, Nan; Liang, Ting; Wang, Zheng; Huang, Shang-zhi

2010-02-01

The aim of this study was to identify mutations of CHST6 gene in a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes of MCD. Corneal button of the proband was obtained from penetrating keratoplasty for the treatment of severe corneal dystrophy. The sections and ultrathin sections of this specimen were examined under light microscope and transmission electron microscope (TEM). Genomic DNA was extracted from leukocytes in peripheral blood from the family members. The coding region of CHST6 was amplified by polymerase chain reaction (PCR). The PCR products were analyzed by direct sequencing and restriction enzyme digestion. Histochemical study revealed positive results of colloidal iron stain. TEM revealed enlargement of smooth endoplasmic reticulum and the presence of intracytoplasmic vacuoles. Two mutations, Q298X Y358H, were identified in exon 3 of CHST6. Three patients were compound heterozygotes of these two mutations. The C892T transversion occurred at codon 298 turned the codon of glutamine to a stop codon; the T1072C transversion occurred at codon 358 caused a missense mutation, tyrosine to histidine. All six unaffected family members were heterozygotes. These two mutations were not detected in any of the 100 control subjects. The novel compound heterozygous mutation results in loss of CHST6 function and causes the occurrence of MCD. This is the first report of this gene mutation.

Culture, ethnicity, and children's facial expressions: a study of European American, Mainland Chinese, Chinese American, and adopted Chinese girls.

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Camras, Linda A; Bakeman, Roger; Chen, Yinghe; Norris, Katherine; Cain, Thomas R

2006-02-01

This investigation extends previous research documenting differences in Chinese and European American infants' facial expressivity. Chinese girls adopted by European American families, nonadopted Mainland Chinese girls, nonadopted Chinese American girls, and nonadopted European American girls responded to emotionally evocative slides and an odor stimulus. European American girls smiled more than Mainland Chinese and Chinese American girls and scored higher than Mainland Chinese girls for disgust-related expressions and overall expressivity. Adopted Chinese girls produced more disgust-related expressions than Mainland Chinese girls. Self-reported maternal strictness, aggravation, positive expressiveness, and cultural identification correlated with children's facial responses, as did number of siblings and adults in the home. Results suggest that culture and family environment influences facial expressivity, creating differences among children of the same ethnicity.

Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor.

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Zou, Xuan; Dong, Fangtian; Zhang, Shuying; Tian, Rong; Sui, Ruifang

2013-05-01

The familial transthyretin (TTR) amyloidosis (FTA) demonstrates variable penetrance of clinical features associated with mutations in the plasma thyroid hormone-binding protein TTR gene. The purpose of this study was to assess the ocular features, to analyze vitreous and serum vascular endothelial growth factor (VEGF) levels, and to identify the genetic defect in a Chinese family with TTR FTA. The pedigree of interest was a three-generation family with eleven members. The primary ocular signs were vitreous opacities, beginning from the third or fourth decade, accompanied by retinal vasculitis, hemorrhages, and widespread pinpoint deposits in the peripheral retina. Two patients underwent vitrectomy with marked improvement of visual acuity postoperatively. Vitreous and serum samples for VEGF were analyzed with an enzyme-linked immunosorbent assay (ELISA). Forty-eight healthy adult volunteers were enrolled as a control group for the analysis of serum VEGF. Eight subjects who underwent vitrectomy for a macular epiretinal membrane or macular hole were enrolled as control for the analysis of vitreous VEGF. Both serum and vitreous VEGF levels of patients were raised compared to that of controls. Venous blood was collected from family members and the genomic DNA was extracted. All exons and exon-intron boundaries of the TTR gene were sequenced. A previously-described pathogenic transversion in exon 2 (c.G106C, p.Ala36Pro) was identified. Within this family eight individuals were confirmed as affected. In conclusion, a Chinese family with TTR Ala36Pro associated FTA is characterized by early ocular involvement. Widespread pinpoint lesions indicate RPE lesions caused by TTR deposition. FTA is associated with increased VEGF levels, both in serum and vitreous. Copyright © 2013 Elsevier Ltd. All rights reserved.

Can Job Control Ameliorate Work-family Conflict and Enhance Job Satisfaction among Chinese Registered Nurses? A Mediation Model.

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Ding, Xiaotong; Yang, Yajuan; Su, Dan; Zhang, Ting; Li, Lunlan; Li, Huiping

2018-04-01

Low job satisfaction is the most common cause of nurses' turnover and influences the quality of nursing service. Moreover, we have no idea regarding whether job control, as an individual factor, can play a role in the relationship. To explore the relationship between work-family conflict and job satisfaction among Chinese registered nurses and the mediating role of job control in this relationship. From August 2015 to November 2016, 487 Chinese registered nurses completed a survey. The study used work-family conflict scale, job control scale, job satisfaction scale, as well as general information. Multiple regression analysis was used to explore the independent factors of job satisfaction. Structural equation model was used to explore the mediating role of job control. Work-family conflict was negatively correlated with job satisfaction (r ‑0.432, pjob control was positively related to job satisfaction (r 0.567, pjob control had significant predictive effects on job satisfaction. Job control partially mediated the relationship between work-family conflict and job satisfaction. Work-family conflict affected job satisfaction and job control was a mediator in this relationship among Chinese registered nurses. Job control could potentially improve nurses' job satisfaction.

Genome-wide association study identified CNP12587 region underlying height variation in Chinese females.

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Yin-Ping Zhang

Full Text Available Human height is a highly heritable trait considered as an important factor for health. There has been limited success in identifying the genetic factors underlying height variation. We aim to identify sequence variants associated with adult height by a genome-wide association study of copy number variants (CNVs in Chinese.Genome-wide CNV association analyses were conducted in 1,625 unrelated Chinese adults and sex specific subgroup for height variation, respectively. Height was measured with a stadiometer. Affymetrix SNP6.0 genotyping platform was used to identify copy number polymorphisms (CNPs. We constructed a genomic map containing 1,009 CNPs in Chinese individuals and performed a genome-wide association study of CNPs with height.We detected 10 significant association signals for height (p<0.05 in the whole population, 9 and 11 association signals for Chinese female and male population, respectively. A copy number polymorphism (CNP12587, chr18:54081842-54086942, p = 2.41 × 10(-4 was found to be significantly associated with height variation in Chinese females even after strict Bonferroni correction (p = 0.048. Confirmatory real time PCR experiments lent further support for CNV validation. Compared to female subjects with two copies of the CNP, carriers of three copies had an average of 8.1% decrease in height. An important candidate gene, ubiquitin-protein ligase NEDD4-like (NEDD4L, was detected at this region, which plays important roles in bone metabolism by binding to bone formation regulators.Our findings suggest the important genetic variants underlying height variation in Chinese.

Can Job Control Ameliorate Work-family Conflict and Enhance Job Satisfaction among Chinese Registered Nurses? A Mediation Model

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Xiaotong Ding

2018-04-01

Full Text Available Background: Low job satisfaction is the most common cause of nurses' turnover and influences the quality of nursing service. Moreover, we have no idea regarding whether job control, as an individual factor, can play a role in the relationship. Objective: To explore the relationship between work-family conflict and job satisfaction among Chinese registered nurses and the mediating role of job control in this relationship. Methods: From August 2015 to November 2016, 487 Chinese registered nurses completed a survey. The study used work-family conflict scale, job control scale, job satisfaction scale, as well as general information. Multiple regression analysis was used to explore the independent factors of job satisfaction. Structural equation model was used to explore the mediating role of job control. Results: Work-family conflict was negatively correlated with job satisfaction (r ‑0.432, p<0.01. In addition, job control was positively related to job satisfaction (r 0.567, p<0.01. Work-family conflict and job control had significant predictive effects on job satisfaction. Job control partially mediated the relationship between work-family conflict and job satisfaction. Conclusion: Work-family conflict affected job satisfaction and job control was a mediator in this relationship among Chinese registered nurses. Job control could potentially improve nurses' job satisfaction.

Parent-Child Cultural Orientations and Child Adjustment in Chinese American Immigrant Families

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Chen, Stephen H.; Hua, Michelle; Zhou, Qing; Tao, Annie; Lee, Erica H.; Ly, Jennifer; Main, Alexandra

2014-01-01

Direct and indirect/mediated relations of (a) children's and parents' cultural orientations and (b) parent-child gaps in cultural orientations to children's psychological adjustment were examined in a socioeconomically diverse sample of 258 Chinese American children (age = 6-9 years) from immigrant families. Parents reported on children's and…

Gene screening in a Chinese family with Marfan syndrome

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Wen-Jiao Xia

2016-05-01

Full Text Available AIM:To analyze the causative gene mutation for Marfan syndrome(MFSwith autosomal dominant hereditary in a Chinese family in Liaoning Province,China. METHODS: Venous blood was collected and candidate gene was selected to design primers according to the clinical phenotype. With genomic polymerase chain reaction(PCRperformed, the coding exons and their flanking intron in sequences of candidate gene were sequenced,DNA fragments separated by agarose gel electrophoresis and direct sequencing method was used to determine the pathogenic gene.RESULTS:Phenotype of the proband was presented as ectopic lentis. Sequencing of the coding regions of FBN1 gene showed the presence of a heterozygous A→G transversion at nucleotide 640 in the 7 exon of FBN1 and the missense mutation made for Glycine into Serine(G214S. CONCLUSION:A heterozygous mutation of FBN1 c.A640G(p.G214Sis responsible for the Marfan syndrome in the four generation Chinese pedigree.

Cultural Differences in Parents' Facilitation of Mathematics Learning: A Comparison of Euro-American and Chinese-American Families.

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Huntsinger, Carol S.; Jose, Paul E.

A longitudinal study examined differences in Chinese-American and Euro-American parents' facilitation of their young children's mathematics learning. Participating in the Time 2 data collection were 36 second-generation Chinese-American and 40 Euro-American first and second graders from well-educated suburban Chicago families. Children were given…

Creating a Chinese suicide dictionary for identifying suicide risk on social media.

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Lv, Meizhen; Li, Ang; Liu, Tianli; Zhu, Tingshao

2015-01-01

Introduction. Suicide has become a serious worldwide epidemic. Early detection of individual suicide risk in population is important for reducing suicide rates. Traditional methods are ineffective in identifying suicide risk in time, suggesting a need for novel techniques. This paper proposes to detect suicide risk on social media using a Chinese suicide dictionary. Methods. To build the Chinese suicide dictionary, eight researchers were recruited to select initial words from 4,653 posts published on Sina Weibo (the largest social media service provider in China) and two Chinese sentiment dictionaries (HowNet and NTUSD). Then, another three researchers were recruited to filter out irrelevant words. Finally, remaining words were further expanded using a corpus-based method. After building the Chinese suicide dictionary, we tested its performance in identifying suicide risk on Weibo. First, we made a comparison of the performance in both detecting suicidal expression in Weibo posts and evaluating individual levels of suicide risk between the dictionary-based identifications and the expert ratings. Second, to differentiate between individuals with high and non-high scores on self-rating measure of suicide risk (Suicidal Possibility Scale, SPS), we built Support Vector Machines (SVM) models on the Chinese suicide dictionary and the Simplified Chinese Linguistic Inquiry and Word Count (SCLIWC) program, respectively. After that, we made a comparison of the classification performance between two types of SVM models. Results and Discussion. Dictionary-based identifications were significantly correlated with expert ratings in terms of both detecting suicidal expression (r = 0.507) and evaluating individual suicide risk (r = 0.455). For the differentiation between individuals with high and non-high scores on SPS, the Chinese suicide dictionary (t1: F 1 = 0.48; t2: F 1 = 0.56) produced a more accurate identification than SCLIWC (t1: F 1 = 0.41; t2: F 1 = 0.48) on different

Creating a Chinese suicide dictionary for identifying suicide risk on social media

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Meizhen Lv

2015-12-01

Full Text Available Introduction. Suicide has become a serious worldwide epidemic. Early detection of individual suicide risk in population is important for reducing suicide rates. Traditional methods are ineffective in identifying suicide risk in time, suggesting a need for novel techniques. This paper proposes to detect suicide risk on social media using a Chinese suicide dictionary.Methods. To build the Chinese suicide dictionary, eight researchers were recruited to select initial words from 4,653 posts published on Sina Weibo (the largest social media service provider in China and two Chinese sentiment dictionaries (HowNet and NTUSD. Then, another three researchers were recruited to filter out irrelevant words. Finally, remaining words were further expanded using a corpus-based method. After building the Chinese suicide dictionary, we tested its performance in identifying suicide risk on Weibo. First, we made a comparison of the performance in both detecting suicidal expression in Weibo posts and evaluating individual levels of suicide risk between the dictionary-based identifications and the expert ratings. Second, to differentiate between individuals with high and non-high scores on self-rating measure of suicide risk (Suicidal Possibility Scale, SPS, we built Support Vector Machines (SVM models on the Chinese suicide dictionary and the Simplified Chinese Linguistic Inquiry and Word Count (SCLIWC program, respectively. After that, we made a comparison of the classification performance between two types of SVM models.Results and Discussion. Dictionary-based identifications were significantly correlated with expert ratings in terms of both detecting suicidal expression (r = 0.507 and evaluating individual suicide risk (r = 0.455. For the differentiation between individuals with high and non-high scores on SPS, the Chinese suicide dictionary (t1: F1 = 0.48; t2: F1 = 0.56 produced a more accurate identification than SCLIWC (t1: F1 = 0.41; t2: F1 = 0.48 on

Chinese children at a crossroads: influence of family socioeconomic factors on diet patterns.

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Ong, Hilary; Meng, Mao; Wei, Liu; Xiawei, Zhao; Wang, May C

2010-01-01

This pilot study explores the roles of family socioeconomic status (SES) in influencing dietary consumption patterns in 60 Chinese elementary school-aged children (ages 6-11) in Chengdu, China. Two interviewer-administered questionnaires were specially developed to gather sociodemographic and food frequency data. Children from low SES families consumed rice and traditional staples, and high calcium drinks more frequently, and western fast food less frequently than children from higher SES families. After controlling for family SES, children who were primarily cared for by their mothers or grandparents consumed less healthy snacks less frequently than children who were primarily cared for by other adults (including fathers).

Molecular genetics of a Chinese family with spinocerebellar ataxia

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Dan-dan WU

2015-10-01

Full Text Available Objective　To study the genotype of the members of a Chinese family with spinocerebellar ataxia (SCA. Methods　The peripheral blood samples of 6 patients and 40 asymptomatic people belonged to the family were collected. Referring to the clinical manifestations of the proband and second-generation sequencing results, the CAG trinucleotide repeats of the pathogenic gene ATXN2 were amplified by polymerase chain reaction (PCR. The repeated times of the trinucleotide in normally and abnormally amplified alleles were defined by agarose gel electrophoresis and PCR products sequencing. Results　Autosomal dominant heredity was the cause of the SCA in this family. Six out of 46 in the fourth-generation were SCA2 patients, 7 were the carriers of pathogenic allele. The repeated times of CAG trinucleotide were within the normal range in one of the two alleles of ATXN2, but they were in abnormal range in the another one. The repeated times of CAG trinucleotide were 40-46 in abnormal alleles of patients. Conclusion　Autosomal dominant heredity SCA2 has been diagnosed in this family caused by the dynamic nutation of CAG trinucleotide repeats, and 7 pathogenic allele carriers in this family were confirmed by genetic diagnosis. DOI: 10.11855/j.issn.0577-7402.2015.08.07

Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.

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Wang, Xueling; Lin, Xiao-Jiang; Tang, Xiangrong; Chai, Yong-Chuan; Yu, De-Hong; Chen, Dong-Ye; Wu, Hao

2017-11-01

The purpose of this study was to identify the genetic causes of a family presenting with multiple symptoms overlapping Usher syndrome type II (USH2) and Waardenburg syndrome type IV (WS4). Targeted next-generation sequencing including the exon and flanking intron sequences of 79 deafness genes was performed on the proband. Co-segregation of the disease phenotype and the detected variants were confirmed in all family members by PCR amplification and Sanger sequencing. The affected members of this family had two different recessive disorders, USH2 and WS4. By targeted next-generation sequencing, we identified that USH2 was caused by a novel missense mutation, p.V4907D in GPR98; whereas WS4 due to p.V185M in EDNRB. This is the first report of homozygous p.V185M mutation in EDNRB in patient with WS4. This study reported a Chinese family with multiple independent and overlapping phenotypes. In condition, molecular level analysis was efficient to identify the causative variant p.V4907D in GPR98 and p.V185M in EDNRB, also was helpful to confirm the clinical diagnosis of USH2 and WS4. Copyright © 2017 Elsevier B.V. All rights reserved.

Transnational business and family strategies among Chinese/Nigerian couples in Guangzhou and Lagos

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Lan, S.

2015-01-01

Based on ethnographic fieldwork in Guangzhou and Lagos, this paper explores transnational trade activities and family strategies among Chinese/Nigerian interracial couples in the context of growing China/Africa trade relations and the recent tightening of China's immigration control. It examines how

Family environment and adolescent psychological well-being, school adjustment, and problem behavior: a pioneer study in a Chinese context.

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Shek, D T

1997-03-01

Chinese secondary school students (N = 365) responded to instruments measuring their family environment, psychological well-being, school adjustment, and problem behavior. Measures of the family environment include perceived paternal and maternal parenting styles, family functioning, and conflict with father and mother. Results from bivariate and canonical correlation analyses showed that in general, adolescents' perceptions of parenting styles, family functioning, and parent-adolescent conflict were significantly related to scores on measures of psychological well-being (general psychiatric morbidity, life satisfaction, purpose in life, hopelessness, and self-esteem), school adjustment (perceived academic performance and school conduct), and problem behavior (smoking and psychotropic drug abuse). The findings suggest that family factors play an important role in influencing the psychosocial adjustment, particularly the positive mental health, of Chinese adolescents.

Work-family conflict and burnout among Chinese doctors: the mediating role of psychological capital.

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Wang, Yang; Liu, Li; Wang, Jiana; Wang, Lie

2012-01-01

The aim of this study was to investigate the relation between work-family conflict and burnout, and the mediating role of psychological capital (PsyCap) in the relation between work-family conflict and burnout, among Chinese doctors. This cross-sectional study was performed during the period of September/October 2010. A questionnaire that comprised work-family conflict assessed by the work-family conflict scale, PsyCap assessed by the PCQ-24 scale and burnout assessed by the Maslach Burnout Inventory-General Survey (MBI-GS), as well as age and gender, was distributed to 1,300 doctors in Liaoning Province, China. A total of 1,011 effective respondents became our final study subjects. Hierarchical linear regression analyses were performed by using SPSS 17.0 to explore the mediating role of PsyCap in the relation between work-family conflict and burnout. Both work interfering family conflict (WIF) and family interfering work conflict (FIW) were positively related with emotional exhaustion and cynicism among both male and females doctors. However, WIF was positively related with professional efficacy only among male doctors, whereas FIW was negatively related with professional efficacy among both male and female doctors. PsyCap partially mediated the relation between WIF and professional efficacy among male doctors and partially mediated the relations of FIW with emotional exhaustion, cynicism and professional efficacy among female doctors. Work-family conflict was associated with burnout among Chinese doctors. PsyCap was a mediator between work-family conflict and burnout. PsyCap might be a positive resource to reduce the negative effect of work-family conflict on burnout of doctors, especially female doctors, in China.

The Chinese Version of the Self-Report Family Inventory: Reliability and Validity.

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Shek, Daniel T. L.; Lai, Kelly Y. C.

2001-01-01

Reliability and validity of Chinese Self-Report Family Inventory (C-SFI) were examined in three studies. Study 1 showed C-SFI was temporally stable and internally consistent. Study 2 indicated C-SFI could discriminate between clinical and nonclinical groups. Study 3 gave support for internal consistency, concurrent validity and construct validity.…

Family Function and Self-esteem among Chinese University Students with and without Grandparenting Experience: Moderating Effect of Social Support

OpenAIRE

Jingyu Shi; Lu Wang; Yuhong Yao; Na Su; Xudong Zhao; Xudong Zhao; Xudong Zhao; Chenyu Zhan

2017-01-01

This study examines the association between family function and self-esteem of Chinese university students with grandparenting experience, and explores the moderating effects of social support in this link. Two thousand five hundred thirty university students (1372 males and 1158 females) from a Chinese university completed the Perceived Social Support Scale, the Rosenberg’s Self-esteem Scale, and the Family Assessment Device (FAD). Six hundred and forty-five (25.69%) students reported grandp...

Perceived Self-Efficacy, Cultural Values, and Coping Styles among Chinese Families of Children with Autism

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Huang, Mary; Zhou, Zheng

2016-01-01

Autism spectrum disorder (ASD) is a pervasive developmental disorder that has grown in prevalence over the past few decades and has a tremendous impact on families that struggle with adjustment to this disorder. Initial exposure to such a disorder may be a significant source of stress and tribulation for Chinese families who are not accustomed to…

An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis

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Yi Dai

2017-07-01

Full Text Available Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1 gene causes ADLD. In this study, we undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD. The proband is a 52-year old man manifested with autonomic abnormalities, pyramidal tract dysfunction. MRI brain scan identified bilateral symmetric white matter (WM hyper-intensities in periventricular and semi-oval WM, cerebral peduncles and middle cerebellar peduncles. The proband has a positive autosomal dominant family history with similar clinical manifestations with a trend of genetic anticipation. In order to understand the genetic cause of the disease in this family, target exome capture based next generation sequencing has been done, but no causative variants or possibly pathogenic variants has been identified. However, Multiplex ligand-dependent probe amplification (MLPA showed whole duplication of LMNB1 gene which is co-segregated with the disease phenotype in this family. This is the first genetically confirmed LMNB1 associated ADLD pedigree from China.

Epstein-Barr virus latent gene sequences as geographical markers of viral origin: unique EBNA3 gene signatures identify Japanese viruses as distinct members of the Asian virus family.

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Sawada, Akihisa; Croom-Carter, Deborah; Kondo, Osamu; Yasui, Masahiro; Koyama-Sato, Maho; Inoue, Masami; Kawa, Keisei; Rickinson, Alan B; Tierney, Rosemary J

2011-05-01

Polymorphisms in Epstein-Barr virus (EBV) latent genes can identify virus strains from different human populations and individual strains within a population. An Asian EBV signature has been defined almost exclusively from Chinese viruses, with little information from other Asian countries. Here we sequenced polymorphic regions of the EBNA1, 2, 3A, 3B, 3C and LMP1 genes of 31 Japanese strains from control donors and EBV-associated T/NK-cell lymphoproliferative disease (T/NK-LPD) patients. Though identical to Chinese strains in their dominant EBNA1 and LMP1 alleles, Japanese viruses were subtly different at other loci. Thus, while Chinese viruses mainly fall into two families with strongly linked 'Wu' or 'Li' alleles at EBNA2 and EBNA3A/B/C, Japanese viruses all have the consensus Wu EBNA2 allele but fall into two families at EBNA3A/B/C. One family has variant Li-like sequences at EBNA3A and 3B and the consensus Li sequence at EBNA3C; the other family has variant Wu-like sequences at EBNA3A, variants of a low frequency Chinese allele 'Sp' at EBNA3B and a consensus Sp sequence at EBNA3C. Thus, EBNA3A/B/C allelotypes clearly distinguish Japanese from Chinese strains. Interestingly, most Japanese viruses also lack those immune-escape mutations in the HLA-A11 epitope-encoding region of EBNA3B that are so characteristic of viruses from the highly A11-positive Chinese population. Control donor-derived and T/NK-LPD-derived strains were similarly distributed across allelotypes and, by using allelic polymorphisms to track virus strains in patients pre- and post-haematopoietic stem-cell transplant, we show that a single strain can induce both T/NK-LPD and B-cell-lymphoproliferative disease in the same patient.

Culture, threat, and mental illness stigma: identifying culture-specific threat among Chinese-American groups.

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Yang, Lawrence H; Purdie-Vaughns, Valerie; Kotabe, Hiroki; Link, Bruce G; Saw, Anne; Wong, Gloria; Phelan, Jo C

2013-07-01

We incorporate anthropological insights into a stigma framework to elucidate the role of culture in threat perception and stigma among Chinese groups. Prior work suggests that genetic contamination that jeopardizes the extension of one's family lineage may comprise a culture-specific threat among Chinese groups. In Study 1, a national survey conducted from 2002 to 2003 assessed cultural differences in mental illness stigma and perceptions of threat in 56 Chinese-Americans and 589 European-Americans. Study 2 sought to empirically test this culture-specific threat of genetic contamination to lineage via a memory paradigm. Conducted from June to August 2010, 48 Chinese-American and 37 European-American university students in New York City read vignettes containing content referring to lineage or non-lineage concerns. Half the participants in each ethnic group were assigned to a condition in which the illness was likely to be inherited (genetic condition) and the rest read that the illness was unlikely to be inherited (non-genetic condition). Findings from Study 1 and 2 were convergent. In Study 1, culture-specific threat to lineage predicted cultural variation in stigma independently and after accounting for other forms of threat. In Study 2, Chinese-Americans in the genetic condition were more likely to accurately recall and recognize lineage content than the Chinese-Americans in the non-genetic condition, but that memorial pattern was not found for non-lineage content. The identification of this culture-specific threat among Chinese groups has direct implications for culturally-tailored anti-stigma interventions. Further, this framework might be implemented across other conditions and cultural groups to reduce stigma across cultures. Copyright © 2013 Elsevier Ltd. All rights reserved.

Work-Family Conflict, Perceived Organizational Support and Professional Commitment: A Mediation Mechanism for Chinese Project Professionals

OpenAIRE

Junwei Zheng; Guangdong Wu

2018-01-01

Projects are characterized by long working hours, complex tasks and being a kind of temporary organization. As such, work-family conflict is particularly prominent for project employees. This research examined whether and how work-family conflict affects professional commitment among Chinese project professionals. Research hypotheses were developed to explore the relationship between work-family conflict, professional commitment to the project and the mediating effects of perceived organizati...

Workplace discrimination predicting racial/ethnic socialization across African American, Latino, and Chinese families.

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Hagelskamp, Carolin; Hughes, Diane L

2014-10-01

Informed by Kohn and Schooler's (1969) occupational socialization framework, this study examined linkages between racial/ethnic minority mothers' perceptions of racial/ethnic discrimination in the workplace and adolescents' accounts of racial/ethnic socialization in the home. Data were collected from 100 mother-early adolescent dyads who participated in a longitudinal study of urban adolescents' development in the Northeastern United States, including African American, Latino, and Chinese families. Mothers and adolescents completed surveys separately. We found that when mothers reported more frequent institutional discrimination at work, adolescents reported more frequent preparation for bias messages at home, across racial/ethnic groups. Mothers' experiences of interpersonal prejudice at work were associated with more frequent cultural socialization messages among African American and Latino families. Chinese youth reported fewer cultural socialization messages when mothers perceived more frequent interpersonal prejudice at work. Findings are discussed in the context of minority groups' distinct social histories and economic status in the United States. (PsycINFO Database Record (c) 2014 APA, all rights reserved).

Reasoning and Negotiation about Child Responsibility in Urban Chinese Families: Reports from Mothers, Fathers and Children

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Bowes, Jennifer M.; San, Li Qing; Chen, May-Jane; Yuan, Li

2004-01-01

The study investigates everyday parental practices involved in the transmission of cultural values and extends current literature on parenting in Chinese families. Children aged 6, 8, and 10 years from 240 Beijing families, and both their parents, were asked about ways in which expectations of child responsibility are transmitted through routine…

Does “Tiger Parenting” Exist? Parenting Profiles of Chinese Americans and Adolescent Developmental Outcomes

OpenAIRE

Kim, Su Yeong; Wang, Yijie; Orozco-Lapray, Diana; Shen, Yishan; Murtuza, Mohammed

2012-01-01

“Tiger parenting,” as described by Chua (2011), has put parenting in Asian American families in the spotlight. The current study identified parenting profiles in Chinese American families and explored their effects on adolescent adjustment. In a three-wave longitudinal design spanning eight years, from early adolescence to emerging adulthood, adolescents (54% female), fathers and mothers from 444 Chinese American families reported on eight parenting dimensions (e.g., warmth and shaming) and s...

Association of ALOX15 gene polymorphisms with obesity-related phenotypes in Chinese nuclear families with male offspring

Institute of Scientific and Technical Information of China (English)

Yao-hua KE; Chun WANG; Yun-qiu HU; Miao LI; Yu-juan LIU; Wen-zhen FU; Zhen-lin ZHANG; Wen-jin XIAO; Jin-wei HE; Hao ZHANG; Jin-bo YU; Wei-wei HU; Jie-mei GU; Gao GAO; Hua YUE

2012-01-01

Aim:Genetic variation in ALOX12,which encoded human 12-lipoxygenase,was found to be associated with fat mass in young Chinese men.The objective of this study was to investigate the relationship between single nucleotide polymorphisms (SNPs) and haplotypes in the ALOX15 gene and obesity-related phenotypes in Chinese nuclear families with male offspring.Methods:We recruited 1,296 subjects from 427 nuclear families with male offspring and genotyped five SNPs (rs9894225,rs748694,rs2619112,rs2619118,and rs916055) in the ALOX15 gene locus.The total fat mass (TFM),trunk fat mass (tFM),leg fat mass (LFM) and arm fat mass (AFM) were measured using dual-energy X-ray absorptiometry (DXA).The percentage of fat mass (PFM) was the ratio of TFM and body weight.The association between SNPs and haplotypes of ALOX15 and obesity-related phenotypic variation was measured using quantitative transmission disequilibrium test (QTDT).Results:Using QTDT to measure family-based genetic association,we found that rs916055 had a statistically significant association with PFM (P=0.038),whereas rs916055 had a marginal but statistically insignificant association with tFM (P=0.093).The multipleparameter 1000 permutations test agreed with the family-based association results:both showed that rs916055 had a statistically significant association with PFM (P=0.033).Conclusion:rs916055 in ALOX15 gene was significantly associated with the percentage of fat mass in Chinese nuclear families with male offspring in the family-based association study using QTDT approach.

Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families

International Nuclear Information System (INIS)

Zhou Xiangtian; Wei Qiping; Yang Li; Tong Yi; Zhao Fuxin; Lu Chunjie; Qian Yaping; Sun Yanghong; Lu Fan; Qu Jia; Guan Minxin

2006-01-01

We report here the clinical, genetic, and molecular characterization of five Chinese families with Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical ND4 G11696A mutation associated with LHON. Indeed, this mutation is present in homoplasmy only in the maternal lineage of those pedigrees but not other members of these families. In fact, the occurrence of the G11696A mutation in these several genetically unrelated subjects affected by visual impairment strongly indicates that this mutation is involved in the pathogenesis of visual impairment. Furthermore, the N405D in the ND5 and G5820A in the tRNA Cys , showing high evolutional conservation, may contribute to the phenotypic expression of G11696A mutation in the WZ10 pedigree. However, there was the absence of functionally significant mtDNA mutations in other four Chinese pedigrees carrying the G11696A mutation. Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated G11696A mutation in these Chinese pedigrees

Co-Ethnic Network, Social Class, and Heritage Language Maintenance among Chinese Immigrant Families

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Zhang, Donghui

2012-01-01

This ethnographic study investigated heritage language maintenance among two distinct groups of Chinese immigrant families (Mandarin and Fujianese) from the social network perspective. The results indicated that a co-ethnic network could be a double-edged sword, which works differently on children from different social classes. While the Mandarin…

Genome-wide identification and comparative analysis of the heat shock transcription factor family in Chinese white pear (Pyrus bretschneideri) and five other Rosaceae species.

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Qiao, Xin; Li, Meng; Li, Leiting; Yin, Hao; Wu, Juyou; Zhang, Shaoling

2015-01-21

Heat shock transcription factors (Hsfs), which act as important transcriptional regulatory proteins in eukaryotes, play a central role in controlling the expression of heat-responsive genes. At present, the genomes of Chinese white pear ('Dangshansuli') and five other Rosaceae fruit crops have been fully sequenced. However, information about the Hsfs gene family in these Rosaceae species is limited, and the evolutionary history of the Hsfs gene family also remains unresolved. In this study, 137 Hsf genes were identified from six Rosaceae species (Pyrus bretschneideri, Malus × domestica, Prunus persica, Fragaria vesca, Prunus mume, and Pyrus communis), 29 of which came from Chinese white pear, designated as PbHsf. Based on the structural characteristics and phylogenetic analysis of these sequences, the Hsf family genes could be classified into three main groups (classes A, B, and C). Segmental and dispersed duplications were the primary forces underlying Hsf gene family expansion in the Rosaceae. Most of the PbHsf duplicated gene pairs were dated back to the recent whole-genome duplication (WGD, 30-45 million years ago (MYA)). Purifying selection also played a critical role in the evolution of Hsf genes. Transcriptome data demonstrated that the expression levels of the PbHsf genes were widely different. Six PbHsf genes were upregulated in fruit under naturally increased temperature. A comprehensive analysis of Hsf genes was performed in six Rosaceae species, and 137 full length Hsf genes were identified. The results presented here will undoubtedly be useful for better understanding the complexity of the Hsf gene family and will facilitate functional characterization in future studies.

Longitudinal linkages among parent-child acculturation discrepancy, parenting, parent-child sense of alienation, and adolescent adjustment in Chinese immigrant families.

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Kim, Su Yeong; Chen, Qi; Wang, Yijie; Shen, Yishan; Orozco-Lapray, Diana

2013-05-01

Parent-child acculturation discrepancy is a risk factor in the development of children in immigrant families. Using a longitudinal sample of Chinese immigrant families, the authors of the current study examined how unsupportive parenting and parent-child sense of alienation sequentially mediate the relationship between parent-child acculturation discrepancy and child adjustment during early and middle adolescence. Acculturation discrepancy scores were created using multilevel modeling to take into account the interdependence among family members. Structural equation models showed that during early adolescence, parent-child American orientation discrepancy is related to parents' use of unsupportive parenting practices; parents' use of unsupportive parenting is related to increased sense of alienation between parents and children, which in turn is related to more depressive symptoms and lower academic performance in Chinese American adolescents. These patterns of negative adjustment established in early adolescence persist into middle adolescence. This mediating effect is more apparent among father-adolescent dyads than among mother-adolescent dyads. In contrast, parent-child Chinese orientation discrepancy does not demonstrate a significant direct or indirect effect on adolescent adjustment, either concurrently or longitudinally. The current findings suggest that during early adolescence, children are more susceptible to the negative effects of parent-child acculturation discrepancy; they also underscore the importance of fathering in Chinese immigrant families.

Towards Homogeneity in Home Languages: Malay, Chinese Foochow and Indian Tamil Families in Kuching, Sarawak, Malaysia

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Ting, Su-Hie; Mahadhir, Mahanita

2009-01-01

This preliminary study examines the languages used by parents with their children in Malay, Chinese Foochow and Indian Tamil families to find out how the similarity or dissimilarity in parents' ethnic language influenced the choice of language transmitted to children and how far standard languages have permeated the family domain in Kuching City…

The Family and Bilingual Socialization: A Sociolinguistic Study of a Sample of Chinese Children in the United States

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Kuo, Eddie Chen-Yu

1974-01-01

The relationship among the family and the bilingual socialization of the child are explored in this sociolinguistic study of a sample of preschool Chinese children. The importance of the family as socializing agent is clarified. (Author/JH)

Work-family conflict and burnout among Chinese female nurses: the mediating effect of psychological capital.

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Wang, Yang; Chang, Ying; Fu, Jialiang; Wang, Lie

2012-10-29

Burnout among nurses not only threatens their own health, but also that of their patients. Exploring risk factors of nurse' burnout is important to improve nurses' health and to increase the quality of health care services. This study aims to explore the relationship between work-family conflict and burnout among Chinese female nurses and the mediating role of psychological capital in this relationship. This cross-sectional study was performed during the period of September and October 2010. A questionnaire that consisted of the Maslach Burnout Inventory-General Survey (MBI-GS), the work-family conflict scale and the psychological capital questionnaire (PCQ-24) scale, as well as demographic and working factors, was distributed to nurses in Liaoning province, China. A total of 1,332 individuals (effective response rate: 78.35%) became our subjects. Hierarchical linear regression analyses were performed to explore the mediating role of psychological capital. Both work interfering family conflict and family interfering work conflict were positively related with emotional exhaustion and cynicism. However, work interfering family conflict was positively related with professional efficacy whereas family interfering work conflict was negatively related with it. Psychological capital partially mediated the relationship of work interfering family conflict with emotional exhaustion and cynicism; and partially mediated the relationship of family interfering work conflict with emotional exhaustion, cynicism and professional efficacy. Work-family conflict had effects on burnout and psychological capital was a mediator in this relationship among Chinese nurses. Psychological capital was a positive resource for fighting against nurses' burnout.

Testing the psychometric properties of a Chinese version of the level of expressed emotion scale.

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Chien, Wai Tong; Chan, Zenobia Chung-Yee; Chan, Sally Wai-Chi

2014-01-01

This study tested the psychometric properties of a Chinese version of the level of expressed emotion scale in Hong Kong Chinese patients with severe mental illness and their family caregivers. First, the semantic equivalence with the original English version and test-retest reliability at 2-week interval of the Chinese version was examined. After that, the reproducibility, construct validity, and internal consistency of the Chinese version were tested. The Chinese version indicated good semantic equivalence with the English version (kappa values = 0.76-0.95 and ICC = 0.81-0.92), test-retest reliability (r = 0.89-0.95, P Chinese version had substantial loadings on one of the four factors identified (intrusiveness/hostility, attitude towards patient, tolerance, and emotional involvement), accounting for 71.8% of the total variance of expressed emotion. In confirmatory factor analysis, the identified four-factor model showed the best fit based on all fit indices (χ (2)/df = 1.93, P = 0.75; AGFI = 0.96; TLI = 1.02; RMSEA = 0.031; WRMR = 0.78) to the collected data. The four-factor Chinese version also indicated a good concurrent validity with significant correlations with family functioning (r = -0.54) and family burden (r = 0.49) and a satisfactory reproducibility over six months (intraclass correlation coefficient of 0.90). The mean scores of the overall and subscale of the Chinese version in patients with unipolar disorder were higher than in other illness groups (schizophrenia, psychotic disorders, and bipolar disorder; P Chinese version demonstrates sound psychometric properties to measure families' expressed emotion in Chinese patients with severe mental illness, which are found varied across countries.

Obesogenic family types identified through latent profile analysis.

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Martinson, Brian C; VazquezBenitez, Gabriela; Patnode, Carrie D; Hearst, Mary O; Sherwood, Nancy E; Parker, Emily D; Sirard, John; Pasch, Keryn E; Lytle, Leslie

2011-10-01

Obesity may cluster in families due to shared physical and social environments. This study aims to identify family typologies of obesity risk based on family environments. Using 2007-2008 data from 706 parent/youth dyads in Minnesota, we applied latent profile analysis and general linear models to evaluate associations between family typologies and body mass index (BMI) of youth and parents. Three typologies described most families with 18.8% "Unenriched/Obesogenic," 16.9% "Risky Consumer," and 64.3% "Healthy Consumer/Salutogenic." After adjustment for demographic and socioeconomic factors, parent BMI and youth BMI Z-scores were higher in unenriched/obesogenic families (BMI difference = 2.7, p typology. In contrast, parent BMI and youth BMI Z-scores were similar in the risky consumer families relative to those in healthy consumer/salutogenic type. We can identify family types differing in obesity risks with implications for public health interventions.

Benefit finding for Chinese family caregivers of community-dwelling stroke survivors: A cross-sectional study.

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Mei, Yongxia; Wilson, Susan; Lin, Beilei; Li, Yingshuang; Zhang, Zhenxiang

2018-04-01

To identify whether benefit finding is a mediator or moderator in the relationship between caregiver burden and psychological well-being (anxiety and depression) in Chinese family caregivers of community-dwelling stroke survivors. Family caregivers not only bear a heavy burden, a high level of anxiety and depression, but also experience benefit finding (positive effects result from stressful events). However, the relationships among benefit finding, caregiver burden and psychological well-being in Chinese family caregivers are not well known. This study was a cross-sectional correlational design. Caregivers (n = 145) of stroke survivors were recruited from two communities in Zhengzhou, China. Data were collected by face-to-face interviews with structured questionnaires, examining caregiver burden, benefit finding and psychological well-being of caregivers. A hierarchical regression analysis explored whether caregiver burden and benefit finding were associated with anxiety and depression of caregivers. The moderator role of benefit finding was examined by testing the significance of the interaction between caregiver burden and benefit finding. A mediational model was used to test benefit finding as a mediator between caregiver burden and psychological well-being of caregivers using process in spss 21.0. Caregiver burden and benefit finding were significantly associated with both anxiety and depression of caregivers. Benefit finding did not portray a moderating role, but portrayed the mediator role in the relationship between caregiver burden, anxiety and depression in caregivers. This study provides the preliminary evidence to nurses that intervention focus on benefit finding may help improve the psychological well-being of caregivers. This study offers nurses rational for assessing caregiver's negative emotions and benefit finding. By targeting benefit finding, the nurse may guide caregivers in benefit identification and implement interventions to reduce anxiety

Family-centred care: a qualitative study of Chinese and South Asian immigrant parents' experiences of care in paediatric oncology.

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Watt, L; Dix, D; Gulati, S; Sung, L; Klaassen, R J; Shaw, N T; Klassen, A F

2013-03-01

Over the past two decades, there is increasing emphasis being placed upon providing family-centred care (FCC) in paediatric oncology settings. However, there is a lack of knowledge of FCC in paediatric oncology from the perspectives of immigrant parents. The purpose of this paper is to describe Chinese and South Asian immigrant parents' experiences of FCC in paediatric oncology settings in Canada. This study adopted a constructivist grounded theory approach. Fifty first generation Chinese and South Asian parents of children with cancer who were at least 6 months post-diagnosis were recruited from six Canadian paediatric oncology centres. Interviews were conducted in English, Cantonese, Mandarin, Urdu, Punjabi or Hindi, and transcribed into English. Analysis involved line-by-line, focused and theoretical coding, and the use of the constant comparison method. Findings indicated that overall parents were highly satisfied with the care and services they received, and their experiences were reflective of the key elements of FCC. However, there were some areas of concern identified by participants: parents not perceiving themselves as a member of the medical team; inconsistency in the quality and co-ordination of services among healthcare providers; disrespectful and mechanical manner of a few healthcare providers; and parents' discomfort with healthcare providers communicating sensitive health-related information directly with their child. In order to successfully provide family-centred services to immigrant parents of children with cancer, better communication of the elements of FCC between healthcare staff and families is needed to negotiate a clear role for the parents as partners of the healthcare team. Moreover, a better understanding of how family relationships are structured in immigrant families will assist healthcare providers to balance the best interests of the child with that of the family as a unit. © 2011 Blackwell Publishing Ltd.

Values and Communication of Chinese, Filipino, European, Mexican, and Vietnamese American Adolescents with Their Families and Friends.

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Cooper, Catherine R.; And Others

1993-01-01

Total of 393 American college students of Chinese, Filipino, European, Mexican, and Vietnamese descent rated their families' familistic values and their relationship with their families. Mexican, Vietnamese, and Filipino descent students endorsed most strongly values regarding mutual support among siblings, whereas all groups reported more formal…

The Ancient Chinese Views of Family Education Recorded in Pre-Qin (before 221 BC Confucian Classics

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Ho-kin Tong

2017-04-01

Full Text Available The Pre-Qin family education is a long neglected but important research topic in understanding Chinese education and culture. Although Chinese traditional family education is mostly under the influence of Confucianism there is not sufficient discussion in the Pre-Qin period as there are only scattered records related to this topic in various Pre-Qin classics. In addition, most research outputs in the field are on “jiaxun” (family instruction which normally refers to family seniors’ commandments to their juniors from a cultural perspective. However, “jiating jiaoyu” (family education can be defined as a mutual learning process in which individuals are socialized in family settings from perspectives of education and sociology. Based on this definition, the paper aims at exploring the special roles and contributions of the early Pre-Qin Confucian classics to the development of family education in China in terms of principle, aim, pedagogy, and role expectation of family member. The result shows that the Yijing (Book of Changes brings out the views of strict family management style, supreme status of the father and role differentiation in the Pre-Qin period. The Lunyu (Analects emphasizes the value of learning the shi (Book of Songs and the li (Book of Rites while the book Mengzi proposes a couple of innovative views on the parent-child relationship, role models, mutual education, environmental influence, and moral and role expectations in family education. The practicability of impartiality in family education and effectiveness of direct instruction in education are areas that need special attention from researchers and education policy makers.

Influence of school-level and family-level variables on Chinese college students' aggression.

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Zhou, Jiawei; Yang, Jiarun; Yu, Yunmiao; Wang, Lin; Han, Dong; Zhu, Xiongzhao; He, Jincai; Qiu, Xiaohui; Yang, Xiuxian; Qiao, Zhengxue; Sui, Hong; Yang, Yanjie

2017-08-01

With the frequent occurrence of campus violence, scholars have devoted increasing attention to college students' aggression. This study aims to estimate the prevalence of aggression in Chinese university students and identify factors that could influence their aggression. We can thus find methods to reduce the incidence of college students' aggression in the future. A multi-stage stratified sampling procedure was used to select university students (N = 4565) aged 16-25 years in Harbin. The Aggression Questionnaire, the Adolescent Self-Rating Life Events Checklist and the Social Support Revalued Scale were used to collect data. Females reported lower levels of aggression than males (p aggression, and the model was highly significant (R 2  = .233, Ad R 2  = .230, p aggression is affected by gender, family-level and school-level variables. Aggression scores are significantly correlated with not only family-level or school-level variables independently, but their combination as well. We find that the risk factors for aggression include a dissatisfying profession, higher levels of study pressure, poor parental relationships, poor interpersonal relationships, the presence of siblings, punishment, health maladjustment, less subjective support, and lower levels of utilization of social support.

Professional Immigrant Women's Experiences of Managing Work and Family Conflicts: The Case of Chinese and Taiwanese Faculty in Research Intensive Universities

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Li, Yun Ling

2017-01-01

This study investigates first-generation Chinese and Taiwanese immigrant women faculty's workplace experiences and their strategies for managing work and family demands. By looking at how immigration, ethnicity, gender, and work processes shape these women's ideology and practices, this study addresses the following questions: How do married Chinese and Taiwanese immigrant women in research-intensive universities handle work and family conflicts? How do they negotiate their gender-role expect...

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.

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Liu, Mugen; Wang, Xu; Cai, Zhou; Tang, Zhaohui; Cao, Kangsheng; Liang, Bo; Ren, Xiang; Liu, Jing Yu; Wang, Qing K

2006-01-01

Brachydactyly type A1 (BDA1) is caused by mutations in the Indian hedgehog gene, IHH, on chromosome 2q35-36. In this study, a large five-generation Chinese family with BDA1 was identified and characterized. All affected family members demonstrated significant homogeneous phenotype and some unique clinical features different from those associated with the reported BDA1 mutations in IHH. Linkage analysis showed that the BDA1 gene in the family was linked to marker D2S126 close to IHH with a LOD score of 4.74 at a recombination fraction of 0. DNA sequence analysis revealed a heterozygous C to T transition at nucleotide 461 of IHH, resulting in a novel T154I substitution. The T154I mutation co-segregated with all affected individuals in the family, and was not present in normal family members or 200 normal controls. These results expand the spectrum of clinical phenotype associated with IHH mutations.

Organizational capacities for 'residential care homes for the elderly' to provide culturally appropriate end-of-life care for Chinese elders and their families.

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Kong, Sui-Ting; Fang, Christine Meng-Sang; Lou, Vivian Weiqun

2017-01-01

Developing culturally appropriate end-of-life care for Chinese elderly and families is not an endemic challenge for Hong Kong, but that of the Western countries with a noticeable trend of rising Chinese population. The particular development of Hong Kong healthcare system, which is currently the major provider of end-of-life care, makes Hong Kong a fruitful case for understanding the confluence of the West and the East cultures in end-of-life care practices. This study therefore aims at building our best practice to enhance the capacity of residential care homes in providing culturally appropriate end-of-life care. We conducted two phases of research, a questionnaire survey and a qualitative study, which respectively aims at (1) understanding the EoL care service demand and provision in RCHEs, including death facts and perceived barriers and challenges in providing quality end-of-life care in care homes, and (2) identifying the necessary organizational capacities for the 'relational personhood' to be sustained in the process of ageing and dying in residential care homes. Findings shed light on how to empower residential care homes with necessary environmental, structural and cultural-resource-related capacity for providing quality end-of-life care for Chinese elders and their families. Copyright © 2016 Elsevier Inc. All rights reserved.

[Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].

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Yang, Shu-zhi; Yuan, Hui-jun; Bai, Lin-na; Cao, Ju-yang; Xu, Ye; Shen, Wei-dong; Ji, Fei; Yang, Wei-yan

2005-10-12

To investigate detailed clinical features of a Chinese pedigree with Waardenburg syndrome type 2. Members of this pedigree were interviewed to identify personal or family medical histories of hearing loss, the use of aminoglycosides, and other clinical abnormalities by filling questionnaire. The audiological and other clinical evaluations of the proband and other members of this family were conducted, including pure-tone audiometry, immittance and auditory brain-stem response and ophthalmological, dermatologic, hair, temporal bone CT examinations. This family is categorized as Waardenburg syndrome type 2 according to its clinical features. It's an autosomal dominant disorder with incomplete penetrance. The clinical features varied greatly among family members and characterized by sensorineural hearing loss, heterochromia irides, freckle on the face and premature gray hair. Hearing loss can be unilateral or bilateral, congenital or late onset in this family. This Chinese family has some unique clinical features comparing with the international diagnostic criteria for Waardenburg syndrome. This study may provide some evidences to amend the diagnostic criteria for Waardenburg syndrome in Chinese population.

Parents' Relative Socioeconomic Status and Paternal Involvement in Chinese Families: The Mediating Role of Coparenting.

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Liu, Chang; Wu, Xinchun; Zou, Shengqi

2016-01-01

This study examined the mediating role of coparenting in the association between differences/similarities in paternal and maternal socioeconomic status (SES) and paternal involvement in Chinese families. The sample included 244 couples with children aged 3-7 years. Fathers and mothers reported their individual incomes, educational levels, occupations, and coparenting behavior (measured using the Coparenting Scale), and fathers completed the Father Involvement Questionnaire. Structural equation modeling was performed to examine the associations between SES and paternal involvement. Results suggested that SES indicator measures were outcome specific. Occupational differences/similarities were associated with paternal involvement indirectly, via fathers' family integrity practices. Income and educational differences/similarities did not affect paternal involvement. The results suggested that the traditional Chinese view that "men are chiefly responsible for activity in society, while women are responsible for the home" has faded.

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.

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Liu, Deyuan; Hu, Zhengmao; Peng, Yu; Yu, Changhong; Liu, Yalan; Mo, Xiaoyun; Li, Xiaoping; Lu, Lina; Xu, Xiaojuan; Su, Wei; Pan, Qian; Xia, Kun

2010-12-08

Norrie disease (ND), a rare X-linked recessive disorder, is characterized by congenital blindness and, occasionally, mental retardation and hearing loss. ND is caused by the Norrie Disease Protein gene (NDP), which codes for norrin, a cysteine-rich protein involved in ocular vascular development. Here, we report a novel mutation of NDP that was identified in a Chinese family in which three members displayed typical ND symptoms and other complex phenotypes, such as cerebellar atrophy, motor disorders, and mental disorders. We conducted an extensive clinical examination of the proband and performed a computed tomography (CT) scan of his brain. Additionally, we performed ophthalmic examinations, haplotype analyses, and NDP DNA sequencing for 26 individuals from the proband's extended family. The proband's computed tomography scan, in which the fifth ventricle could be observed, indicated cerebellar atrophy. Genome scans and haplotype analyses traced the disease to chromosome Xp21.1-p11.22. Mutation screening of the NDP gene identified a novel nonsense mutation, c.343C>T, in this region. Although recent research has shown that multiple different mutations can be responsible for the ND phenotype, additional research is needed to understand the mechanism responsible for the diverse phenotypes caused by mutations in the NDP gene.

Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.

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Gao, Xue; Wang, Guo-Jian; Yuan, Yong-Yi; Xin, Feng; Han, Ming-Yu; Lu, Jing-Qiao; Zhao, Hui; Yu, Fei; Xu, Jin-Cao; Zhang, Mei-Guang; Dong, Jiang; Lin, Xi; Dai, Pu

2014-01-01

Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP), and occasionally vestibular dysfunction. The most severe form is Usher syndrome type 1 (USH1). Mutations in the MYO7A gene are responsible for USH1 and account for 29-55% of USH1 cases. Here, we characterized a Chinese family (no. 7162) with USH1. Combining the targeted capture of 131 known deafness genes, next-generation sequencing, and bioinformatic analysis, we identified two deleterious compound heterozygous mutations in the MYO7A gene: a reported missense mutation c.73G>A (p.G25R) and a novel nonsense mutation c.462C>A (p.C154X). The two compound variants are absent in 219 ethnicity-matched controls, co-segregates with the USH clinical phenotypes, including hearing loss, vestibular dysfunction, and age-dependent penetrance of progressive RP, in family 7162. Therefore, we concluded that the USH1 in this family was caused by compound heterozygous mutations in MYO7A.

Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.

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Xue Gao

Full Text Available Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP, and occasionally vestibular dysfunction. The most severe form is Usher syndrome type 1 (USH1. Mutations in the MYO7A gene are responsible for USH1 and account for 29-55% of USH1 cases. Here, we characterized a Chinese family (no. 7162 with USH1. Combining the targeted capture of 131 known deafness genes, next-generation sequencing, and bioinformatic analysis, we identified two deleterious compound heterozygous mutations in the MYO7A gene: a reported missense mutation c.73G>A (p.G25R and a novel nonsense mutation c.462C>A (p.C154X. The two compound variants are absent in 219 ethnicity-matched controls, co-segregates with the USH clinical phenotypes, including hearing loss, vestibular dysfunction, and age-dependent penetrance of progressive RP, in family 7162. Therefore, we concluded that the USH1 in this family was caused by compound heterozygous mutations in MYO7A.

Multiple Levels of Family Factors and Oppositional Defiant Disorder Symptoms Among Chinese Children.

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Lin, Xiuyun; Li, Longfeng; Heath, Melissa A; Chi, Peilian; Xu, Shousen; Fang, Xiaoyi

2018-03-01

Family factors are closely associated with child developmental outcomes. This study examined the relationship of oppositional defiant disorder (ODD) symptoms and factors at whole family, dyadic, and individual levels in Chinese children. Participants, who were recruited from 14 primary schools in north, east, and south-west China, included 80 father-child dyads and 169 mother-child dyads. Children in the participating dyads were previously diagnosed with ODD. Results revealed that family cohesion/adaptability was indirectly associated with ODD symptoms via parent-child relationship and child emotion regulation. Parent-child relationship affected ODD symptoms directly and indirectly through child emotion regulation. In addition, the effects of family cohesion/adaptability on parent emotion regulation and child emotion regulation were mediated by the parent-child relationship. The tested model provides a comprehensive framework of how family factors at multiple levels are related to child ODD symptoms and highlights the importance of understanding child emotional and behavioral problems within the family context, more specifically within the multiple levels of family relationships. © 2016 Family Process Institute.

Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing

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Qi Zhou

2015-01-01

Full Text Available Background. Retinitis pigmentosa (RP is an inherited retinal degenerative disease, which is clinically and genetically heterogeneous, and the inheritance pattern is complex. In this study, we have intended to study the possible association of certain genes with X-linked RP (XLRP in a Chinese family. Methods. A Chinese family with RP was recruited, and a total of seven individuals were enrolled in this genetic study. Genomic DNA was isolated from peripheral leukocytes, and used for the next generation sequencing (NGS. Results. The affected individual presented the clinical signs of XLRP. A heterozygous missense mutation (c.1555C>T, p.R519W was identified by NGS in exon 13 of the CACNA1F gene on X chromosome, and was confirmed by Sanger sequencing. It showed perfect cosegregation with the disease in the family. The mutation at this position in the CACNA1F gene of RP was found novel by database searching. Conclusion. By using NGS, we have found a novel heterozygous missense mutation (c.1555C>T, p.R519W in CACNA1F gene, which is probably associated with XLRP. The findings might provide new insights into the cause and diagnosis of RP, and have implications for genetic counseling and clinical management in this family.

Self-administered acupressure for symptom management among Chinese family caregivers with caregiver stress: a randomized, wait-list controlled trial.

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Tiwari, Agnes; Lao, Lixing; Wang, Amy Xiao-Min; Cheung, Denise Shuk Ting; So, Mike Ka Pui; Yu, Doris Sau Fung; Lum, Terry Yat Sang; Yuk Fung, Helina Yin King; Yeung, Jerry Wing Fai; Zhang, Zhang-Jin

2016-10-28

Caregiving can be stressful, potentially creating physical and psychological strain. Substantial evidence has shown that family caregivers suffer from significant health problems arising from the demands of caregiving. Although there are programs supporting caregivers, there is little evidence regarding their effectiveness. Acupressure is an ancient Chinese healing method designed to restore the flow of Qi (vital energy) by applying external pressure to acupoints. A randomized, wait-list controlled trial was developed to evaluate the effectiveness of a self-administered acupressure intervention on caregiver stress (primary objective) and stress-related symptoms of fatigue, insomnia, depression, and health-related quality of life (secondary objectives) in Chinese caregivers of older family members. Two hundred Chinese participants, aged ≥ 21 years, who are the primary caregivers of an older family member and screen positive for caregiver stress and symptoms of fatigue/insomnia/depression will be recruited from a community setting in Hong Kong. Subjects will be randomized to receive either an immediate treatment condition (self-administered acupressure intervention) or a wait-list control condition. The self-administered acupressure intervention will include (i) an individual learning and practice session twice a week for 2 weeks, (ii) a home follow-up visit once a week for 2 weeks, and (iii) 15-min self-practice twice a day for 6 weeks. The wait-list control group will receive the same acupressure training after the intervention group has completed the intervention. We hypothesize that Chinese family caregivers in the intervention group will have lower levels of caregiver stress, fatigue, insomnia, depression, and higher health-related quality of life after completion of the intervention than participants in the wait-list control group. This study will provide evidence for the effectiveness of self-administered acupressure in reducing stress and improving

A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.

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Zhai, Yi; Li, Jinyu; Zhu, Yanan; Xia, Yan; Wang, Wei; Yu, Yinhui; Yao, Ke

2014-01-01

The goal of this study was to characterize the disease-causing mutations in a Chinese family with congenital nuclear and posterior polar cataracts. Clinical data of patients in the family were recorded using slit-lamp photography and high definition video. Genomic DNA samples were extracted from the peripheral blood of the pedigree members and 100 healthy controls. Mutation screening was performed in the candidate genes by bi-directional sequencing of the amplified products. The congenital cataract phenotype of the pedigree was identified by slit-lamp examinations and observation during surgery as nuclear and posterior polar cataracts. Through the sequencing of the candidate genes, a heterozygous c. 418C>T change was detected in the coding region of the γD-crystallin gene (CRYGD). As a result of this change, a highly conserved arginine residue was replaced by a stop codon (p. R140X). This change was discovered among all of the affected individuals with cataracts, but not among the unaffected family members or the 100 ethnically matched controls. This study identified a novel congenital nuclear and posterior polar cataract phenotype caused by the recurrent mutation p. R140X in CRYGD.

Association of Caucasian-identified variants with colorectal cancer risk in Singapore Chinese.

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Lai Fun Thean

Full Text Available Genome-wide association studies (GWAS in Caucasians have identified fourteen index single nucleotide polymorphisms (iSNPs that influence colorectal cancer (CRC risk.We investigated the role of eleven iSNPs or surrogate SNPs (sSNPs, in high linkage disequilibrium (LD, r(2≥ 0.8 and within 100 kb vicinity of iSNPs, in 2,000 age- and gender-matched Singapore Chinese (SCH cases and controls.Only iSNP rs6983267 at 8q24.21 and sSNPs rs6695584, rs11986063, rs3087967, rs2059254, and rs7226855 at 1q41, 8q23.3, 11q23.1, 16q22.1 and 18q21.1 respectively showed evidence of association with CRC risk, with odds ratios (OR ranging from 1.13 to 1.40. sSNP rs827401 at 10p14 was associated with rectal cancer risk (OR = 0.74, 95% CI 0.63-0.88 but not disease prognosis (OR = 0.91, 95% CI 0.69-1.20. Interestingly, sSNP rs3087967 at 11q23.1 was associated with CRC risk in men (OR = 1.34, 95% CI 1.14-1.58 but not women (OR = 1.07, 95% CI: 0.88-1.29, suggesting a gender-specific role. Half of the Caucasian-identified variants, including the recently fine-mapped BMP pathway loci, BMP4, GREM1, BMP2 and LAMA 5, did not show any evidence for association with CRC in SCH (OR ~1; p-value >0.1. Comparing the results of this study with that of the Northern and Hong Kong Chinese, only variants at chromosomes 8q24.21, 10p14, 11q23.1 and 18q21.1 were replicated in at least two out of the three Chinese studies.The contrasting results between Caucasians and Chinese could be due to different LD patterns and allelic frequencies or genetic heterogeneity. The results suggest that additional common variants contributing to CRC predisposition remained to be identified.

Antecedents and outcomes of a fourfold taxonomy of work-family balance in Chinese employed parents.

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Lu, Jia-Fang; Siu, Oi-Ling; Spector, Paul E; Shi, Kan

2009-04-01

The study provided validity evidence for a fourfold taxonomy of work-family balance that comprises direction of influence (work to family vs. family to work) and types of effect (work-family conflict vs. work-family facilitation). Data were collected from 189 employed parents in China. The results obtained from a confirmatory factor analysis supported the factorial validity of the fourfold taxonomy of work-family balance with a Chinese sample. Child care responsibilities, working hours, monthly salary, and organizational family-friendly policy were positively related to the conflict component of work-family balance; whereas new parental experience, spouse support, family-friendly supervisors and coworkers had significant positive effects on the facilitation component of work-family balance. In comparison with the inconsistent effects of work-family conflict, work to family facilitation had consistent positive effects on work and life attitudes. The implications of findings in relation to China and other countries are discussed in the paper.

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

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Shanshan Xu

2017-10-01

Full Text Available Abstract Background Noonan syndrome (NS and Noonan syndrome with multiple lentigines (NSML are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11, RAF1, BRAF, and MAP2K. In this study, we diagnosed ten NS or NSML patients via targeted sequencing or whole exome sequencing (TS/WES. Methods TS/WES was performed to identify mutations in ten Chinese patients who exhibited the following manifestations: potential facial dysmorphisms, short stature, congenital heart defects, and developmental delay. Sanger sequencing was used to confirm the suspected pathological variants in the patients and their family members. Results TS/WES revealed three mutations in the PTPN11 gene, three mutations in RAF1 gene, and four mutations in BRAF gene in the NS and NSML patients who were previously diagnosed based on the abovementioned clinical features. All the identified mutations were determined to be de novo mutations. However, two patients who carried the same mutation in the RAF1 gene presented different clinical features. One patient with multiple lentigines was diagnosed with NSML, while the other patient without lentigines was diagnosed with NS. In addition, a patient who carried a hotspot mutation in the BRAF gene was diagnosed with NS instead of cardiofaciocutaneous syndrome (CFCS. Conclusions TS/WES has emerged as a useful tool for definitive diagnosis and accurate genetic counseling of atypical cases. In this study, we analyzed ten Chinese patients diagnosed with NS and related disorders and identified their correspondingPTPN11, RAF1, and BRAF mutations. Among the target genes, BRAF showed the same degree of correlation with NS incidence as that of PTPN11 or RAF1.

Associations of perceived interparental relationship, family harmony and family happiness with smoking intention in never-smoking Chinese children and adolescents: a cross-sectional study.

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Luk, Tzu Tsun; Wang, Man Ping; Leung, Lok Tung; Wu, Yongda; Chen, Jianjiu; Lam, Tai Hing; Ho, Sai Yin

2017-10-06

To examine the associations of perceived interparental relationship, family harmony and family happiness with smoking intention in never-smoking Chinese children and adolescents in Hong Kong. Cross-sectional surveys of 15 753 primary (grades 4-6) and 38 398 secondary (grades 7-12) never-smoking students from 71 to 75 randomly selected primary and secondary schools in Hong Kong, 2012-2013. Outcome variable was smoking intention which denoted any affirmative response to smoke within the coming year or when a cigarette was offered by a good friend. Exposure variables were perceived interparental relationship and family harmony each measured on a five-point scale from 'very good' to 'very bad' and perceived family happiness on a four-point scale from 'very happy' to 'not happy at all'. Potential confounders included age, sex, family structure, perceived family affluence, parental smoking and sibling smoking. In primary students, the adjusted ORs (AORs) (95% CI) of smoking intention generally increased with more negative perception of the family relationship: up to 3.67 (1.91 to 7.05) for interparental relationship, 7.71 (4.38 to 13.6) for family harmony and 5.40 (3.41 to 8.55) for family happiness. For secondary students, the corresponding AORs (95% CI) were 2.15 (1.64 to 2.82) for interparental relationship, 2.98 (2.31 to 3.84) for family harmony and 2.61 (1.80 to 3.79) for family happiness. All p for trend happiness were associated with higher odds of smoking intention with dose-response relationships in never-smoking Chinese children and adolescents in Hong Kong. Children's perception of their family relationship may be an important intervening point for preventing youth from initiating smoking. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Communication, coping, and quality of life of breast cancer survivors and family/friend dyads: a pilot study of Chinese-Americans and Korean-Americans.

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Lim, Jung-Won

2014-11-01

This study aimed to understand the dyadic relationships between family communication and quality of life (QOL) and between coping and QOL in Chinese-American and Korean-American breast cancer survivor (BCS)-family member dyads. A cross-sectional survey design was used. A total of 32 Chinese-American and Korean-American BCS-family member dyads were recruited from the California Cancer Surveillance Program and area hospitals in Los Angeles County, California, USA. The dyadic data were analyzed using a pooled regression actor-partner interdependence model. The study findings demonstrated that the survivors' general communication and use of reframing coping positively predicted their own QOL. The survivors' and family members' general communication was also a strong predictor of the family members' physical-related QOL score specifically. Meanwhile, each person's use of mobilizing coping negatively predicted his or her partner's QOL. The study findings add important information to the scarce literature on the QOL of Asian-American survivors of breast cancer. The findings suggest that Chinese-American and Korean-American BCS and their family members may benefit from interventions that enhance communication and coping within the family unit. Copyright © 2014 John Wiley & Sons, Ltd.

Parental Influence on Children's Talent Development: A Case Study with Three Chinese American Families

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Wu, Echo H.

2008-01-01

This paper explores the influence of parenting beliefs and practices on children's talent development through a specific perspective of several Chinese American families with gifted children. In-depth interviews were employed to collect data from the parents, and research questions focused on the daily practice of parenting and parents' beliefs…

The Relations among Family Functioning, Class Environment, and Gratitude in Chinese Elementary School Students

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Bai, Yu; Jin, Leili

2016-01-01

Gratitude is a key construct in positive psychology. Previous studies seldom examined the salient contextual correlates of gratitude in early adolescence in non-Western society. This study examined the relations among family functioning, class environment, and gratitude in a sample of 202 Chinese elementary school students. The results showed that…

Application of GP IIIa gene Taq I polymorphism to determination of carrier status in Glanzmann's thrombasthenia families of Chinese origin

International Nuclear Information System (INIS)

Ruan Changgeng; Gu Jianmin; Wang Xiaodong; Chu Xiaohong; Pan Junliang; Wu Qingyu

1992-08-01

Glanzmann's thrombasthenia is a bleeding disorder caused by qualitative and/or quantitative defects of platelet membrane glycoprotein (GP) Ii b /III a complex. The disease is inherited in an autosomal recessive manner. The use of cDNA probes to study restriction fragment length polymorphisms (RFLPs) in GPIII a gene is reported. A Taq I polymorphism was identified and this RFLP consisted of variant bands of 6.5 kb/4.0 and 2.5 kb with a frequency of 0.46/0.54 in Chinese population. The Taq I polymorphism was further localized by polymerase chain reaction (PCR) method to exon VIII of the GPIII a gene. In two Glanzmann's thrombasthenia families, the Taq I RFLP studied with both Southern blotting and PCR methods identified defective GPIII a gene inherited by patients, and determined the genotype of asymptomatic subjects. Analysis of this Taq I polymorphism by PCR method should be potentially useful in future for the carrier detection and prenatal diagnosis in Glanzmann's thrombasthenia families

Resolution of the Poincare problem and nonexistence of algebraic limit cycles in family (I) of Chinese classification

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Chavarriga, Javier; Garcia, Isaac A.; Sorolla, Jordi

2005-01-01

Any quadratic system with limit cycles can be written in one of the three families stated by the Chinese classification. In this paper we consider family (I), i.e., x-bar =δx-y+-bar x2+mxy+ny2,y-bar =x. We show that the degree of its real irreducible invariant algebraic curves is bounded by 3. By the way, we prove that there is not any algebraic limit cycle for this family

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

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Dai, Hanjun; Zhang, Xiaohui; Zhao, Xin; Deng, Ting; Dong, Bing; Wang, Jingzhao; Li, Yang

2008-01-01

Usher syndrome type II (USH2) is the most common form of Usher syndrome, an autosomal recessive disorder characterized by moderate to severe hearing loss, postpuberal onset of retinitis pigmentosa (RP), and normal vestibular function. Mutations in the USH2A gene have been shown to be responsible for most cases of USH2. To further elucidate the role of USH2A in USH2, mutation screening was undertaken in three Chinese families with USH2. Three unrelated Chinese families, consisting of six patients and 10 unaffected relatives, were examined clinically, and 100 normal Chinese individuals served as controls. Genomic DNA was extracted from the venous blood of all participants. The coding region (exons 2-72), including the intron-exon boundary of USH2A, was amplified by polymerase chain reaction (PCR). The PCR products amplified from the three probands were analyzed using direct sequencing to screen sequence variants. Whenever substitutions were identified in a patient, restriction fragment length polymorphism analysis, or single strand conformation polymorphism analysis was performed on all available family members and the control group. Fundus examination revealed typical fundus features of RP, including narrowing of the vessels, bone-speckle pigmentation, and waxy optic discs. The ERG wave amplitudes of three probands were undetectable. Audiometric tests indicated moderate to severe sensorineural hearing impairment. Vestibular function was normal. Five novel mutations (one small insertion, one small deletion, one nonsense, one missense, and one splice site) were detected in three families after sequence analysis of USH2A. Of the five mutations, four were located in exons 22-72, specific to the long isoform of USH2A. The mutations found in our study broaden the spectrum of USH2A mutations. Our results further indicate that the long isoform of USH2A may harbor even more mutations of the USH2A gene.

A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family.

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Yang, Zhenfei; Su, Dongmei; Li, Qian; Yang, Fan; Ma, Zicheng; Zhu, Siquan; Ma, Xu

2012-01-01

The purpose of this study was to identify the disease-causing mutation and the molecular phenotype that are responsible for the presence of an autosomal dominant congenital nuclear cataract disease in a Chinese family. The family history and clinical data were recorded. The patients were given a physical examination and their blood samples were collected for DNA extraction. Direct sequencing was used to detect the mutation. Transcription analysis of the mutant crystallin, beta A1 (CRYBA1/A3) gene was performed to verify whether the defective mutation had influenced the splice of the mature mRNA. The phenotype of the congenital cataract in the family was identified as a nuclear cataract type, by using slit-lamp photography. Direct sequencing revealed a novel mutation IVS3+2 T→G in CRYBA1/A3. This mutation co-segregated with all affected individuals in the family, but was not found in unaffected family members nor in the 100 unrelated controls. Transcription analysis of the mutant CRYBA1/A3 gene indicated that this mutation had influenced the splice of the mature mRNA. Our study identified a novel splice site mutation in CRYBA1/A3. This mutation was responsible for aberrant splicing of the mature mRNA and had caused the congenital nuclear cataracts in the family. This is the first report relating an IVS3+2 T→G mutation of CRYBA1/A3 to congenital cataracts.

Health information sources for different types of information used by Chinese patients with cancer and their family caregivers.

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Xie, Bo; Su, Zhaohui; Liu, Yihao; Wang, Mo; Zhang, Ming

2017-08-01

Little is known about the information sources of Chinese patients with cancer and their family caregivers, yet this knowledge is critical for providing patient-centred care. To assess and compare the information sources used by Chinese patients with cancer and their family caregivers. The validated Health Information Wants Questionnaire (HIWQ) was translated and administered in March 2014. The oncology department of a general hospital in south-west China. A convenience sample of 198 individuals, including 79 patients with cancer (mean age=55.24, SD=13.80) and 119 family caregivers (mean age=46.83, SD=14.61). Ratings on the HIWQ items assessing information sources for different types of information. The interaction between information source and group was significant (F 3,576 =6.32, Pinformation than patients from the Internet. Caregivers and patients did not differ in the amount of information they obtained from doctors/nurses, interpersonal contacts or mass media. The interaction between information type and information source was significant (F 18,3456 =6.38, Pinformation of all types from doctors/nurses than from the other three sources and obtained more information from interpersonal contacts than from mass media or the Internet. The information sources of Chinese patients with cancer and their family caregivers were similar, with an important difference that caregivers obtained more online information than patients. These findings have important implications for patient care and education in China where the family typically plays a major role in the care and decision making. © 2016 The Authors. Health Expectations Published by John Wiley & Sons Ltd.

The Chinese Family Assessment Instrument (C-FAI): Hierarchical Confirmatory Factor Analyses and Factorial Invariance

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Shek, Daniel T. L.; Ma, Cecilia M. S.

2010-01-01

Objective: This paper examines the dimensionality and factorial invariance of the Chinese Family Assessment Instrument (C-FAI) using multigroup confirmatory factor analyses (MCFAs). Method: A total of 3,649 students responded to the C-FAI in a community survey. Results: Results showed that there are five dimensions of the C-FAI (communication,…

A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family

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Yi-Hua Yao

2018-03-01

Full Text Available AIM: To identify the mutations of MYOC, OPTN, CYP1B1 and WDR36 in a large Chinese family affected by juvenile open angle glaucoma (JOAG. METHODS: Of 114 members of one family were recruited in this study. Blood samples from twelve members of this pedigree were collected for further research. As a control, 100 unrelated subjects were recruited from the same hospital. The exon and flanking intron sequences of candidate genes were amplified using the polymerase chain reaction and direct DNA sequencing. RESULTS: The proband (III:10 was a seventy-three years old woman with binocular JOAG at the age of 31. A recurrent heterozygous mutation (c.1099G>A of MYOC was identified in the three JOAG patients and another suspect. This transition was located in the first base pair of codon 367 (GGA>AGA in exon 3 of MYOC and was predicted to be a missense substitution of glycine to arginine (p.G367R in myocilin. Mutations in OPTN, CYP1B1 or WDR36 were not detected in this study. The G367R mutation was not present in unaffected family members or in 100 ethnically matched controls. Other variants of the coding regions of candidate genes were not detected in all participants. To date, this family was the largest to have been identified as carrying a certain MYOC mutation in China, further evidence of a founder effect for the G367R MYOC mutant was provided by our data. CONCLUSION: A MYOC c.1099G>A mutation in an autosomal dominant JOAG family is identified and the characteristic phenotypes among the patients are summarized. Genetic testing could be utilized in high-risk populations and be helpful not only for genetic counseling, but also for early diagnosis and treatment of affected patients or carriers of inherited JOAG.

A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family

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Jia-Ze Tan

2016-01-01

Conclusions: We reported a SCCMS family of Chinese origin. In the family, classical clinical phenotype with phenotypic variability among different members was found. Genetic testing could help diagnose this rare disease.

An investigation of the choice of governance modes in Chinese family firms

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Jiancai Pi

2015-12-01

Full Text Available This paper aims to investigate the choice of governance modes in Chinese family firms. For that purpose, we build a principal-agent model to conduct our analyses. There are two modes of governance that the owner of the family firm can choose from, either the relational governance or the professional governance. The choice of governance modes is embodied in managerial compensation under different contractual arrangements. Our theoretical analyses show that under some conditions it is optimal for the owner to choose the relational governance, while under other conditions it is optimal for the owner to adopt the professional governance. That is to say, the choice of governance modes is condition-dependent

Parental Expressivity and Parenting Styles in Chinese Families: Prospective and Unique Relations to Children's Psychological Adjustment.

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Chen, Stephen H; Zhou, Qing; Eisenberg, Nancy; Valiente, Carlos; Wang, Yun

2011-01-01

OBJECTIVES: Parents from different cultures differ in how frequently they express emotions. However, the generalizability of the relations between parental expressivity and child adjustment in non-Western cultures has not been extensively studied. The goal of the present study was to investigate prospective relations between parental expressivity within the family (positive, negative dominant, and negative submissive expressivity) and Chinese children's psychological adjustment, above and beyond parenting styles. DESIGN: The study used two waves (3.8 years apart) of longitudinal data from a sample (n= 425) of children in Beijing (mean ages = 7.7 years at T1 and 11.6 years at T2). Parental expressivity and parenting styles were self-reported. To reduce the potential measurement overlap, items that tap parental expression of emotions toward the child were removed from the parenting style measure. Children's adjustment was measured with parents', teachers', and peers' or children's reports. RESULTS: Consistent with findings with European American samples, parental negative dominant expressivity uniquely and positively predicted Chinese children's externalizing problems controlling for prior externalizing problems, parenting styles, and family SES. Neither parental expressivity nor parenting styles uniquely predicted social competence. CONCLUSIONS: Despite previously reported cultural differences in the mean levels of parental expressivity, some of the socialization functions of parental expressivity found in Western countries can be generalized to Chinese families. Although parental expressivity and parenting styles are related constructs, their unique relations to child's adjustment suggest that they should be examined as distinct processes.

Identifying vital edges in Chinese air route network via memetic algorithm

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Wenbo Du

2017-02-01

Full Text Available Due to rapid development in the past decade, air transportation system has attracted considerable research attention from diverse communities. While most of the previous studies focused on airline networks, here we systematically explore the robustness of the Chinese air route network, and identify the vital edges which form the backbone of Chinese air transportation system. Specifically, we employ a memetic algorithm to minimize the network robustness after removing certain edges, and hence the solution of this model is the set of vital edges. Counterintuitively, our results show that the most vital edges are not necessarily the edges of the highest topological importance, for which we provide an extensive explanation from the microscope view. Our findings also offer new insights to understanding and optimizing other real-world network systems.

Intergenerational Transmission of Educational Attitudes in Chinese American Families: Interplay of Socioeconomic Status and Acculturation

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Shen, Yishan; Kim, Su Yeong; Wang, Yijie

2016-01-01

This longitudinal study examined the influence of parents’ educational attitudes on adolescents’ educational attitudes and identified antecedents (i.e., parent education, family income, and parent acculturation), consequences (i.e., academic achievement and engagement), and a potential moderator (i.e., adolescent acculturation) of the transmission process. The sample was 444 Chinese American mothers, fathers, and adolescents (12–15 at W1). Using path analysis, this study found significant two-way interactions among parent education, income, and acculturation in predicting parents’ concurrent positive educational attitudes, which, in turn, predicted adolescents’ attitudes at W2. The latter link was further moderated by W1 and W2 adolescent acculturation for mother-adolescent and father-adolescent dyads. Adolescents’ positive educational attitudes at W2, in turn, were positively associated with their concurrent academic achievement and engagement. PMID:27138812

Effort-Reward Imbalance at School and Depressive Symptoms in Chinese Adolescents: The Role of Family Socioeconomic Status

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Hongxiang Guo

2014-06-01

Full Text Available Depression is a major mental health problem during adolescence. This study, using a sample of Chinese adolescents, examined the separate and combined effects of perceived school-related stress and of family socioeconomic status (SES on the prevalence of depressive symptoms. A total of 1774 Chinese students from Grades 7–12 were recruited into our questionnaire survey. School-related stress was measured by the Effort-Reward Imbalance Questionnaire-School Version, family SES was assessed by a standardized question, and depressive symptoms were evaluated by the Center for Epidemiological Studies Depression Scale for Children. Multivariate logistic regression was applied, adjusting for age, gender, grade, smoking, alcohol drinking and physical activity. It was found that high school-related stress and low family SES were associated with elevated odds of depressive symptoms, respectively. The effect of school-related stress was particularly strong in low SES group. In adolescents with both high stress at school and low SES, the odds ratio was 9.18 (95% confidence interval = 6.53–12.89 compared to the reference group (low stress at school and high SES. A significant synergistic interaction effect was observed (synergy index = 2.28, 95% confidence interval = 1.56–3.32. The findings indicated that perceived school-related stress, in terms of effort-reward imbalance, was related to depressive symptoms in this sample of Chinese adolescents. The strong interaction with family SES suggests that health promoting efforts in school settings should be targeted specifically at these socially deprived groups.

Relations among Perceived Parental Control, Warmth, Indulgence, and Family Harmony of Chinese in Mainland China.

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Lau, Sing; And Others

1990-01-01

Results of a study of 925 educated Chinese who recalled child-rearing patterns of their parents indicated that greater perceived parental dominating control was related to less perceived parental warmth and that greater parental warmth and less parental control were related to greater perceived family harmony. (RH)

Prevalence and risk factors of Helicobacter pylori infection in Chinese maritime workers.

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Hu, Dongmei; Shao, Jing; Wang, Ligang; Zheng, Huichun; Xu, Yan; Song, Guirong; Liu, Qigui

2013-01-01

Helicobacter pylori infection is very common worldwide. To evaluate the prevalence and identify the risk factors for Helicobacter pylori infection in Chinese maritime workers. Between March 2010 and October 2010, 3995 subjects were selected in the Hospital of Dalian Port. The presence of Helicobacter pylori infection was confirmed using laboratory tests (serum IgG anti-Helicobacter pylori antibodies) and background information, family history, lifestyle and eating habits were collected using questionnaires. The prevalence of Helicobacter pylori infection was 44.9% in these Chinese maritime workers. Prevalence of Helicobacter pylori infection was associated with family income, living space, family history of gastrointestinal diseases, smoking, drinking tea, raw vegetables consumption, spicy food, pickle food, dining outside, no regular meal and dish sharing. Further analysis with multivariate logistic regression analysis indicated that raw vegetables consumption, pickle food consumption, family income and family history of gastrointestinal diseases were independent predictors for Helicobacter pylori infection. No association was found between infection and gender, marital status, education, alcohol consumption and tap water consumption. Helicobacter pylori infection is associated with raw vegetables consumption, pickle food consumption, family income and family history of gastrointestinal disease among Chinese maritime workers.

Family and academic performance: identifying high school student profiles

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Alicia Aleli Chaparro Caso López

2016-01-01

Full Text Available The objective of this study was to identify profiles of high school students, based on variables related to academic performance, socioeconomic status, cultural capital and family organization. A total of 21,724 high school students, from the five municipalities of the state of Baja California, took part. A K-means cluster analysis was performed to identify the profiles. The analyses identified two clearly-defined clusters: Cluster 1 grouped together students with high academic performance and who achieved higher scores for socioeconomic status, cultural capital and family involvement, whereas Cluster 2 brought together students with low academic achievement, and who also obtained lower scores for socioeconomic status and cultural capital, and had less family involvement. It is concluded that the family variables analyzed form student profiles that can be related to academic achievement.

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

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Xiu-Feng Huang

Full Text Available Usher syndrome (USH is a leading cause of deaf-blindness in autosomal recessive trait. Phenotypic and genetic heterogeneities in USH make molecular diagnosis much difficult. This is a pilot study aiming to develop an approach based on next-generation sequencing to determine the genetic defects in patients with USH or allied diseases precisely and effectively. Eight affected patients and twelve unaffected relatives from five unrelated Chinese USH families, including 2 pseudo-dominant ones, were recruited. A total of 144 known genes of inherited retinal diseases were selected for deep exome resequencing. Through systematic data analysis using established bioinformatics pipeline and segregation analysis, a number of genetic variants were released. Eleven mutations, eight of them were novel, in the USH2A gene were identified. Biparental mutations in USH2A were revealed in 2 families with pseudo-dominant inheritance. A proband was found to have triple mutations, two of them were supposed to locate in the same chromosome. In conclusion, this study revealed the genetic defects in the USH2A gene and demonstrated the robustness of targeted exome sequencing to precisely and rapidly determine genetic defects. The methodology provides a reliable strategy for routine gene diagnosis of USH.

Parent–Child Acculturation, Parenting, and Adolescent Depressive Symptoms in Chinese Immigrant Families

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Kim, Su Yeong; Chen, Qi; Li, Jing; Huang, Xuan; Moon, Ui Jeong

2009-01-01

Using a sample of 388 father–adolescent and 399 mother–adolescent dyads in Chinese immigrant families, the current investigation tested Portes and Rumbaut's (1996) assertion that generational dissonance may indicate a family context that places children at increased risk for adverse outcomes. Study findings suggest that a high discrepancy in father–adolescent acculturation levels relates significantly to more adolescent depressive symptoms. The study further demonstrates that the quality of the parenting relationship between fathers and adolescents operates as a mediator between father–adolescent acculturation discrepancy and adolescent depressive symptoms. Specifically, a high level of discrepancy in American orientation between fathers and adolescents is associated with unsupportive parenting practices, which, in turn, are linked to more adolescent depressive symptoms. These relationships are significant even after controlling for the influence of family socioeconomic status and parents’ and adolescents’ sense of discrimination within the larger society. PMID:19586205

The Chinese version of the Pediatric Quality of Life Inventory™ (PedsQL™) Family Impact Module: cross-cultural adaptation and psychometric evaluation.

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Chen, Ruoqing; Hao, Yuantao; Feng, Lifen; Zhang, Yingfen; Huang, Zhuoyan

2011-03-23

A pediatric chronic health condition not only influences a child's life, but also has impacts on parent health-related quality of life (HRQOL) and family functioning. To provide care and social support to these families, a psychometrically well-developed instrument for measuring these impacts is of great importance. The present study is aimed to evaluate the psychometric properties of the Chinese version of the PedsQL™ Family Impact Module. The cross-cultural adaptation of the PedsQL™ Family Impact Module was performed following the PedsQL™ Measurement Model Translation Methodology. The Chinese version of the PedsQL™ Family Impact Module was administered to 136 parents of children with asthma and 264 parents of children with heart disease from four Triple A hospitals. The psychometric properties such as feasibility, internal consistency reliability, item-subscale correlations and construct validity were evaluated. The percentage of missing item responses was less than 0.1% for both asthma and heart disease sample groups. The Chinese version of the PedsQL™ Family Impact Module showed ceiling effects but had acceptable reliability (Cronbach's Alpha Coefficients were higher than 0.7 in all the subscales except "Daily Activities" in the asthma sample group). There were higher correlation coefficients between items and their hypothesized subscales than those with other subscales. The asthma sample group reported higher parent HRQOL and family functioning than the heart disease sample group. In the heart disease sample group, parents of outpatients reported higher parent HRQOL and family functioning than parents of inpatients. Confirmatory factor analysis showed that the instrument had marginally acceptable construct validity with some Goodness-of-Fit indices not reaching the standard indicating acceptable model fit. The Chinese version of the PedsQL™ Family Impact Module has adequate psychometric properties and could be used to assess the impacts of

The Chinese version of the Pediatric Quality of Life Inventory™ (PedsQL™ Family Impact Module: cross-cultural adaptation and psychometric evaluation

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Feng Lifen

2011-03-01

Full Text Available Abstract Background A pediatric chronic health condition not only influences a child's life, but also has impacts on parent health-related quality of life (HRQOL and family functioning. To provide care and social support to these families, a psychometrically well-developed instrument for measuring these impacts is of great importance. The present study is aimed to evaluate the psychometric properties of the Chinese version of the PedsQL™ Family Impact Module. Methods The cross-cultural adaptation of the PedsQL™ Family Impact Module was performed following the PedsQL™ Measurement Model Translation Methodology. The Chinese version of the PedsQL™ Family Impact Module was administered to 136 parents of children with asthma and 264 parents of children with heart disease from four Triple A hospitals. The psychometric properties such as feasibility, internal consistency reliability, item-subscale correlations and construct validity were evaluated. Results The percentage of missing item responses was less than 0.1% for both asthma and heart disease sample groups. The Chinese version of the PedsQL™ Family Impact Module showed ceiling effects but had acceptable reliability (Cronbach's Alpha Coefficients were higher than 0.7 in all the subscales except "Daily Activities" in the asthma sample group. There were higher correlation coefficients between items and their hypothesized subscales than those with other subscales. The asthma sample group reported higher parent HRQOL and family functioning than the heart disease sample group. In the heart disease sample group, parents of outpatients reported higher parent HRQOL and family functioning than parents of inpatients. Confirmatory factor analysis showed that the instrument had marginally acceptable construct validity with some Goodness-of-Fit indices not reaching the standard indicating acceptable model fit. Conclusions The Chinese version of the PedsQL™ Family Impact Module has adequate

Identifying public health competencies relevant to family medicine.

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Harvey, Bart J; Moloughney, Brent W; Iglar, Karl T

2011-10-01

Public health situations faced by family physicians and other primary care practitioners, such as severe acute respiratory syndrome (SARS) and more recently H1N1, have resulted in an increased interest to identify the public health competencies relevant to family medicine. At present there is no agreed-on set of public health competencies delineating the knowledge and skills that family physicians should possess to effectively face diverse public health challenges. Using a multi-staged, iterative process that included a detailed literature review, the authors developed a set of public health competencies relevant to primary care, identifying competencies relevant across four levels, from "post-MD" to "enhanced." Feedback from family medicine and public health educator-practitioners regarding the set of proposed "essential" competencies indicated the need for a more limited, feasible set of "priority" areas to be highlighted during residency training. This focused set of public health competencies has begun to guide relevant components of the University of Toronto's Family Medicine Residency Program curriculum, including academic half-days; clinical experiences, especially identifying "teachable moments" during patient encounters; resident academic projects; and elective public health agency placements. These competencies will also be used to guide the development of a family medicine-public health primer and faculty development sessions to support family medicine faculty facilitating residents to achieve these competencies. Once more fully implemented, an evaluation will be initiated to determine the degree to which these public health competencies are being achieved by family medicine graduates, especially whether they attained the knowledge, skills, and confidence necessary to effectively face diverse public health situations-from common to emergent. Copyright © 2011 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.

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Lin, Pengfei; Zhang, Dong; Xu, Guangrun; Yan, Chuanzhu

2018-04-01

Spinocerebellar ataxias (SCAs) are a group of autosomal dominant, clinically heterogeneous neurodegenerative disorders. SCA18 is a rare autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458) associated with a single missense variant c.514 A>G in the interferon related developmental regulator 1 (IFRD1) gene previously reported in a five-generation American family of Irish origin. However, to date, there have been no other reports of the IFRD1 mutation to confirm its role in SCA. Here, we report a Han Chinese family with SCA18; the family members presented with a slowly progressing gait ataxia, pyramidal tract signs, and peripheral neuropathy. We identified a missense variant (c.514 A>G, p.I172V) in IFRD1 gene in the family using targeted next-generation sequencing and Sanger direct sequencing with specific primers. Our results suggest that the IFRD1 gene may be the causative allele for SCA18.

Infant Feeding Beliefs, Attitudes, Knowledge and Practices of Chinese Immigrant Mothers: An Integrative Review of the Literature.

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Lindsay, Ana Cristina; Le, Qun; Greaney, Mary L

2017-12-23

Chinese are a fast-growing immigrant population group in several parts of the world (e.g., Australia, Canada, Europe, Southeast Asia, United States). Research evidence suggests that compared to non-Hispanic whites, individuals of Asian-origin including Chinese are at higher risk of developing cardiovascular disease and type 2 diabetes at a lower body mass index (BMI). These risks may be possibly due to genetic differences in body composition and metabolic responses. Despite the increasing numbers of Chinese children growing up in immigrant families and the increasing prevalence of obesity among Chinese, little research has been focused on children of Chinese immigrant families. This integrative review synthesizes the evidence on infant feeding beliefs, attitudes, knowledge and practices of Chinese immigrant mothers; highlights limitations of available research; and offers suggestions for future research. Using the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) guidelines, we searched four electronic academic/research databases (CINAHL, Medline, PsycINFO, and PubMed) to identify peer-reviewed, full-text papers published in English between January 2000 and September 2017. Only studies with mothers 18+ years old of normally developing infants were included. Of the 797 citations identified, 15 full-text papers were retrieved and 11 studies (8 cross-sectional studies, 3 qualitative studies) met the inclusion criteria and were included in this review. Reviewed studies revealed high initiation rates of breastfeeding, but sharp declines in breastfeeding rates by six months of age. In addition, reviewed studies revealed that the concomitantly use of breast milk and formula, and the early introduction of solid foods were common. Finally, reviewed studies identified several familial and socio-cultural influences on infant feeding beliefs and practices that may increase risk of overweight and obesity during infancy and early childhood among Chinese

Infant Feeding Beliefs, Attitudes, Knowledge and Practices of Chinese Immigrant Mothers: An Integrative Review of the Literature

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Lindsay, Ana Cristina; Le, Qun; Greaney, Mary L.

2017-01-01

Chinese are a fast-growing immigrant population group in several parts of the world (e.g., Australia, Canada, Europe, Southeast Asia, United States). Research evidence suggests that compared to non-Hispanic whites, individuals of Asian-origin including Chinese are at higher risk of developing cardiovascular disease and type 2 diabetes at a lower body mass index (BMI). These risks may be possibly due to genetic differences in body composition and metabolic responses. Despite the increasing numbers of Chinese children growing up in immigrant families and the increasing prevalence of obesity among Chinese, little research has been focused on children of Chinese immigrant families. This integrative review synthesizes the evidence on infant feeding beliefs, attitudes, knowledge and practices of Chinese immigrant mothers; highlights limitations of available research; and offers suggestions for future research. Using the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) guidelines, we searched four electronic academic/research databases (CINAHL, Medline, PsycINFO, and PubMed) to identify peer-reviewed, full-text papers published in English between January 2000 and September 2017. Only studies with mothers 18+ years old of normally developing infants were included. Of the 797 citations identified, 15 full-text papers were retrieved and 11 studies (8 cross-sectional studies, 3 qualitative studies) met the inclusion criteria and were included in this review. Reviewed studies revealed high initiation rates of breastfeeding, but sharp declines in breastfeeding rates by six months of age. In addition, reviewed studies revealed that the concomitantly use of breast milk and formula, and the early introduction of solid foods were common. Finally, reviewed studies identified several familial and socio-cultural influences on infant feeding beliefs and practices that may increase risk of overweight and obesity during infancy and early childhood among Chinese

Testing the Psychometric Properties of a Chinese Version of the Level of Expressed Emotion Scale

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Wai Tong Chien

2014-01-01

Full Text Available This study tested the psychometric properties of a Chinese version of the level of expressed emotion scale in Hong Kong Chinese patients with severe mental illness and their family caregivers. First, the semantic equivalence with the original English version and test-retest reliability at 2-week interval of the Chinese version was examined. After that, the reproducibility, construct validity, and internal consistency of the Chinese version were tested. The Chinese version indicated good semantic equivalence with the English version (kappa values = 0.76–0.95 and ICC = 0.81–0.92, test-retest reliability (r = 0.89–0.95, P<0.01, and internal consistency (Cronbach’s α = 0.86–0.92. Among 262 patients with severe mental illness and their caregivers, the 50-item Chinese version had substantial loadings on one of the four factors identified (intrusiveness/hostility, attitude towards patient, tolerance, and emotional involvement, accounting for 71.8% of the total variance of expressed emotion. In confirmatory factor analysis, the identified four-factor model showed the best fit based on all fit indices (χ2/df = 1.93, P=0.75; AGFI = 0.96; TLI = 1.02; RMSEA = 0.031; WRMR = 0.78 to the collected data. The four-factor Chinese version also indicated a good concurrent validity with significant correlations with family functioning (r = −0.54 and family burden (r = 0.49 and a satisfactory reproducibility over six months (intraclass correlation coefficient of 0.90. The mean scores of the overall and subscale of the Chinese version in patients with unipolar disorder were higher than in other illness groups (schizophrenia, psychotic disorders, and bipolar disorder; P<0.01. The Chinese version demonstrates sound psychometric properties to measure families’ expressed emotion in Chinese patients with severe mental illness, which are found varied across countries.

Family and peer influences on adjustment among Chinese, Filipino, and White youth.

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Willgerodt, Mayumi Anne

2008-01-01

Little is known about the influence of parent-adolescent relationships and peer behavior on emotional distress and risky behaviors among Asian American adolescents; in particular, cross-cultural and longitudinal examinations are missing from the extant research. To test and compare a theoretical model examining the influence of family and peer factors on adolescent distress and risky behavior over time, using a nationally representative sample of Chinese, Filipino, and White adolescents. Data were utilized from Waves I (1994) and II (1995) of the National Longitudinal Study on Adolescent Health; the sample is composed of 194 Chinese, 345 Filipino, and 395 White adolescents and weighted to correct for design effects, yielding a nationally representative sample. Structural equation modeling was used to test the theoretical model for each ethnic group separately followed by multiple-group analyses. The measurement model was examined for each ethnic group, using both unweighted and weighted samples, and was deemed equivalent across groups. Tests of the theoretical model by ethnicity revealed that for each group, family bonds have significant negative effects on emotional distress and risky behaviors. For Filipino and White youth, peer risky behaviors influenced risky behaviors. Multiple-group analyses of the theoretical model indicated that the three ethnic groups did not differ significantly from one another. Findings suggest that family bonds and peer behavior exert significant influences on psychological and behavioral outcomes in Asian American youth and that these influences appear to be similar with White adolescents. Future research should be directed toward incorporating variables known to contribute to the impact of distress and risky behaviors in model testing and validating findings from this study.

Occupational Stress, Work-Family Conflict and Depressive Symptoms among Chinese Bank Employees: The Role of Psychological Capital.

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Kan, Dan; Yu, Xiaosong

2016-01-16

Although depression is a major problem affecting the physical and mental health of the occupational population worldwide, little research is available among bank employees. The purpose of the study was to examine the effects of occupational stress and work-family conflict on depressive symptoms and the mediating role of psychological capital (PsyCap). A cross-sectional study was performed from May to June in 2013 in Liaoning province, China. The effort-reward imbalance (ERB) scale, the work-family conflict scale, the PsyCap questionnaire and the Center for Epidemiologic Studies Depression scale were completed by 1546 employees in state-owned banks. A total of 1239 effective respondents (467 men and 772 women) became our subjects. Hierarchical regression analysis was carried out to explore the effects of extrinsic effort, reward, overcommitment, work-family conflict, and PsyCap on depressive symptoms. The mediating role of PsyCap was examined using Preacher and Hayes' asymptotic and resampling strategies. The mean score of depressive symptoms was 18.4 (SD = 7.6) among the Chinese bank employees. Extrinsic effort, overcommitment and work-family conflict were positively associated with depressive symptoms. Reward and PsyCap were negatively associated with depressive symptoms. The significant mediating roles of PsyCap in the associations of extrinsic effort (a*b = 0.046, BCa 95% CI: 0.029, 0.066) and reward (a*b = -0.047, BCa 95% CI: -0.065, -0.030) with depressive symptoms were revealed. There is a high level of depressive symptoms among Chinese bank employees. PsyCap partially mediates the effects of extrinsic effort and reward on depressive symptoms. Investing in PsyCap may provide new approaches to improve mental health among Chinese bank employees.

Pedigree analysis of glucose-6 phosphate dehydrogenase (G6PD deficiency of a Javanese Chinese family in Indonesia

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IDG Ugrasena

2017-02-01

Full Text Available The molecular and pedigree analyses in a Javanese Chinese family were carried oul on glucose-6-phosphate dehydrogenase deficiencies. By method of  MPTP scanning without the sequencing steps, those variants could be confirmed. Two out of three sons were clinically jaundiced at birth due to G6PD deficiency and identified to have a G to T nucleotide change al 1376th nucleotide 01 the G6PD gene (GI376T, corresponding to G6PD Canton. Another son was also identified to have a C to T nucleotide change at 1311st nucleotide 01 the G6PD gene (CI311T, corresponding to a Silent mutation. Their father was normal, but their mother obsorved to have the heleromutation 01 G1376T (G6PD Canton and C1311T (a Silent mutation.

Economic Disadvantage, Perceived Family Life Quality, and Emotional Well-Being in Chinese Adolescents: A Longitudinal Study

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Shek, Daniel T. L.

2008-01-01

Over three consecutive years, Chinese secondary school students experiencing and not experiencing economic disadvantage (n = 280 and 2,187, respectively) responded to measures of perceived family life quality (parenting attributes and parent-child relational quality) and emotional well-being (hopelessness, mastery, life satisfaction and…

Family Life Quality and Emotional Quality of Life in Chinese Adolescents with and without Economic Disadvantage

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Shek, Daniel T. L.; Lee, T. Y.

2007-01-01

Chinese secondary school students (N = 2758) responded to measures of perceived family life quality (parenting quality and parent-child relational quality) and emotional quality of life (hopelessness, mastery, life satisfaction and self-esteem). Parenting quality included different aspects of parental behavioral control (parental knowledge,…

Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.

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Qu, Ling-Hui; Jin, Xin; Xu, Hai-Wei; Li, Shi-Ying; Yin, Zheng-Qin

2015-02-01

Usher syndrome (USH) is the most common cause of combined blindness and deafness inherited in an autosomal recessive mode. Molecular diagnosis is of great significance in revealing the molecular pathogenesis and aiding the clinical diagnosis of this disease. However, molecular diagnosis remains a challenge due to high phenotypic and genetic heterogeneity in USH. This study explored an approach for detecting disease-causing genetic mutations in candidate genes in five index cases from unrelated USH families based on targeted next-generation sequencing (NGS) technology. Through systematic data analysis using an established bioinformatics pipeline and segregation analysis, 10 pathogenic mutations in the USH disease genes were identified in the five USH families. Six of these mutations were novel: c.4398G > A and EX38-49del in MYO7A, c.988_989delAT in USH1C, c.15104_15105delCA and c.6875_6876insG in USH2A. All novel variations segregated with the disease phenotypes in their respective families and were absent from ethnically matched control individuals. This study expanded the mutation spectrum of USH and revealed the genotype-phenotype relationships of the novel USH mutations in Chinese patients. Moreover, this study proved that targeted NGS is an accurate and effective method for detecting genetic mutations related to USH. The identification of pathogenic mutations is of great significance for elucidating the underlying pathophysiology of USH.

Perceived family perceptions of breastfeeding and Chinese new mothers' breastfeeding behaviors.

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Lu, Hong; Li, Hongyan; Ma, Shuqin; Xia, Lijuan; Christensson, Kyllike

2011-11-01

To provide an understanding of Chinese new mothers' breastfeeding behaviors and especially to explore the relationship between the mothers perceived family perception about breastfeeding and the new mothers' breastfeeding behaviors. A cross-sectional questionnaire survey was conducted in Beijing and Yinchuan, the capital of Ning Xia Province, China. 214 new mothers with a baby at the age of 4 months were recruited to the study. The family perception of breastfeeding scale and the new mothers' breastfeeding behavior record were used. The response rate was n=200, 94%. Most of the new mothers perceived positive family perceptions about breastfeeding with an average score of 23.13 using the family perception of breastfeeding scale. Nearly half of the respondents reported that they exclusively breastfed their infants (n=94, 47%). The main reason for breastfeeding difficulty was inadequate lactation (n=56, 69%). The new mothers who breastfed their infants mentioned significantly stronger family perceptions/support compared to those who used mixed feeding or artificial feeding (p0.05) in the types of mothers' feeding behaviors across the different age group, occupation, ethnicity, educational level, mode of delivery, the time of the baby's first suck, bottle feeding before the baby's first suck and the time of having colostrums. It is suggested to develop some strategies, such as family-centered antenatal and postnatal education programmes, to increase the rate of exclusive breastfeeding by influencing new mothers' families about breastfeeding. Further research is needed to explore socio-demographic variables associated with new-mothers' breastfeeding behaviors. Copyright © 2011 Elsevier B.V. All rights reserved.

Understanding Early Childhood Socialisation in Immigrant Families: Malaysian-Chinese Parents' Perceptions on the Importance of Ethnic Identity and Cultural Maintenance

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Voon, Shi Jing; Pearson, Emma

2011-01-01

This pilot study was designed to shed light on Malaysian-Chinese parents' beliefs about ethnic identity and cultural maintenance in children's socialisation following migration. Three Malaysian-Chinese families residing in Sydney, Australia, with at least one child within the early childhood age range of 4-8 years, participated in the study.…

Evaluation of family-centred services from parents of Chinese children with cerebral palsy with the Measure of Processes of Care.

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Wang, M; Petrini, M A; Guan, Q

2015-05-01

Family-centred service (FCS) has become essential to parents of children with cerebral palsy (CP) and professionals in Chinese paediatric rehabilitation services. FCS practice meets the unique needs of the child and family, through facilitation of optimal service provision delivered by professionals, and ensures service systems to be flexible, appropriate and actively responsive to the family needs. Parents used the Measure of Processes of Care 20 (MPOC-20) questionnaire to evaluate and verify the efficacy of use in China. The aims of the present study were twofold: to assess the validity and reliability of the Chinese MPOC-20, and investigate the range of parents' satisfaction with service provision in an FCS practice using the MPOC-20. The Chinese MPOC-20 was selected to assess parent satisfaction with service provision of professionals in FCS practice. Participants were parents of children under 8 years of age with CP, who had received rehabilitation services between May 2012 and May 2013, and were receiving rehabilitation services in May 2013 at a hospital outpatient department and a rehabilitation centre. The reliability and validity of the Chinese MPOC-20 were confirmed. Parents evaluated FCS practice with the MPOC-20 survey. Respectful and supportive care was rated with the highest score and providing general information the lowest. Parents according to the data were dissatisfied with the lack of information. Parents fairly evaluated service provision of professionals in FCS practice with the Chinese MPOC-20. Professionals received feedback reports of parents, summaries of the inadequacy of service delivery, and developed and implemented ameliorated measures in the FCS policy to strive to provide exemplary service. © 2014 John Wiley & Sons Ltd.

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing*

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Hong, Nan; Chen, Yan-hua; Xie, Chen; Xu, Bai-sheng; Huang, Hui; Li, Xin; Yang, Yue-qing; Huang, Ying-ping; Deng, Jian-lian; Qi, Ming; Gu, Yang-shun

2014-01-01

Objective: Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical features of NHS in a Chinese family. Methods: Whole exome sequencing analysis was performed on DNA from an affected male to scan for candidate mutations on the X-chromosome. Sanger sequencing was used to verify these candidate mutations in the whole family. Clinical and ophthalmological examinations were performed on all members of the family. Results: A combination of exome sequencing and Sanger sequencing revealed a nonsense mutation c.322G>T (E108X) in exon 1 of NHS gene, co-segregating with the disease in the family. The nonsense mutation led to the conversion of glutamic acid to a stop codon (E108X), resulting in truncation of the NHS protein. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region. The clinical features in all affected males and female carriers are described in detail. Conclusions: We report a nonsense mutation c.322G>T (E108X) in a Chinese family with NHS. Our findings broaden the spectrum of NHS mutations and provide molecular insight into future NHS clinical genetic diagnosis. PMID:25091991

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.

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Hong, Nan; Chen, Yan-hua; Xie, Chen; Xu, Bai-sheng; Huang, Hui; Li, Xin; Yang, Yue-qing; Huang, Ying-ping; Deng, Jian-lian; Qi, Ming; Gu, Yang-shun

2014-08-01

Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical features of NHS in a Chinese family. Whole exome sequencing analysis was performed on DNA from an affected male to scan for candidate mutations on the X-chromosome. Sanger sequencing was used to verify these candidate mutations in the whole family. Clinical and ophthalmological examinations were performed on all members of the family. A combination of exome sequencing and Sanger sequencing revealed a nonsense mutation c.322G>T (E108X) in exon 1 of NHS gene, co-segregating with the disease in the family. The nonsense mutation led to the conversion of glutamic acid to a stop codon (E108X), resulting in truncation of the NHS protein. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region. The clinical features in all affected males and female carriers are described in detail. We report a nonsense mutation c.322G>T (E108X) in a Chinese family with NHS. Our findings broaden the spectrum of NHS mutations and provide molecular insight into future NHS clinical genetic diagnosis.

Ideological changes identified in and through Linguistic expressions: what should stand for Korea in Chinese, chaoxian1 or Hanguo ? Ideological changes identified in and through Linguistic expressions: what should stand for Korea in Chinese, chaoxian1 or Hanguo ?

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Stanley Zhongwei Song

2008-04-01

Full Text Available This paper presents an attempt to explain changes of China’s dominant ideology, the socialist ideology identified in and through linguistic expressions. By analysing from a historical perspective the meanings potential of the word Korea with its correlated expressions in Chinese, it highlights how deeply the way of referring to two Koreas has been influenced under the traditional ideology of the Chinese society, manipulated by the communist ideology in socialist China and challenged by less powerful yet emerging ideologies in market-oriented China. With the major linguistic references in Chinese to two political entities in the Korean peninsula, North and South Korea, the paper studies the relationship between ideological changes in modern Chinese society and linguistic expressions that, as part of the system of language, reflect ideological investments in and political implications of the changes. Added with a translation-related case study with a focus of emphasis on the word Korea, it concludes that with a flourishing of cultural pluralism in China, usually a forerunner of political pluralism, less dominant ideologies do compete with the official ideology in various ways and forms, and the competition can be traced and identified in and through linguistic expressions. In other words, given the political and economic dynamics of China in the past half century, change of linguistic expressions may indicate, in one way or another, the wax and wane of the Chinese dominant socialist ideology in a dialectical sense. This paper presents an attempt to explain changes of China’s dominant ideology, the socialist ideology identified in and through linguistic expressions. By analysing from a historical perspective the meanings potential of the word Korea with its correlated expressions in Chinese, it highlights how deeply the way of referring to two Koreas has been influenced under the traditional ideology of the Chinese society, manipulated by

The Relation of Prosocial Orientation to Peer Interactions, Family Social Environment and Personality of Chinese Adolescents

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Ma, Hing Keung; Cheung, Ping Chung; Shek, Daniel T. L.

2007-01-01

This study investigated the relation of peer interactions, family social environment and personality to prosocial orientation in Chinese adolescents. The results indicated no sex differences in general prosocial orientation and inclination to help others, but sex differences in inclination to maintain an affective relationship and inclination to…

Identifying the Family, Job, and Workplace Characteristics of Employees Who Use Work-Family Benefits.

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Secret, Mary

2000-01-01

Employs a contextual effects perspective to identify family, job, and workplace characteristics associated with the use of work-family benefits of 527 employees in 83 businesses. Determined that particular family problems predict female employee use of paid leave and mental health benefits. Summarizes that workplace size, sector, and culture are…

A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.

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Xie, Yingjun; Huang, Xueqiong; Liang, Yujian; Xu, Lingling; Pei, Yuxin; Cheng, Yucai; Zhang, Lidan; Tang, Wen

2017-11-01

Cystic fibrosis (CF) is the most common autosomal recessive disease among Caucasians but is rarer in the Chinese population, because mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. To elucidate the causative role of a novel compound heterozygous mutation of CF. In this study, clinical samples were obtained from two siblings with recurrent airway infections, clubbed fingers, salt-sweat and failure to gain weight in a non-consanguineous Chinese family. Next-generation sequencing was performed on the 27 coding exons of CFTR in both children, with confirmation by Sanger sequencing. Next-generation sequencing showed the same compound heterozygous CFTR mutation (c.865A>T p.Arg289X and c.3651_3652insAAAT p.Tyr1219X) in both children. As this mutation is consistent with the clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that the CF phenotype is caused by compound heterozygosity for c.865A>T and c.3651_3652insAAAT. As c865A>T is not currently listed in the "Cystic Fibrosis Mutation Database", this information about CF in a Chinese population is of interest. © 2015 John Wiley & Sons Ltd.

When East meets West: intensive care unit experiences among first-generation Chinese American parents.

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Lee, Shih-Yu; Weiss, Sandra J

2009-01-01

To explore the experiences of first-generation Chinese American parents while their infants are cared for in intensive care units (ICUs). Because the study focus was on understanding the experiences of parents, a phenomenological approach was used, with open-ended questions that encouraged participants to describe events they perceived to be important. The data analysis procedure suggested by van Manen was used for the qualitative data analysis. A convenience sample of 25 first-generation Chinese American families, with infants hospitalized in the intensive care units of three teaching hospitals in the San Francisco area. Seven themes were identified: perceived incompetence, self-blame, blame from others, filial piety, lack of support in the US, communication issues, and cultural differences. Both fathers and mothers experienced stress related to all identified themes. Findings suggest the need for more resources to educate and support families as well as culturally competent care within pediatric ICUs. Further study is critical to understand how the Chinese American's personal and family characteristics may influence stress perceptions when coping with their children's hospitalization. This study can help healthcare providers to understand Chinese American parents' perceptions while their infants are hospitalized in the ICU, which can enhance cultural competence care services.

Development of a new marker system for identifying the complex members of the low-molecular-weight glutenin subunit gene family in bread wheat (Triticum aestivum L.).

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Zhang, Xiaofei; Liu, Dongcheng; Yang, Wenlong; Liu, Kunfan; Sun, Jiazhu; Guo, Xiaoli; Li, Yiwen; Wang, Daowen; Ling, Hongqing; Zhang, Aimin

2011-05-01

Low-molecular-weight glutenin subunits (LMW-GSs) play an important role in determining the bread-making quality of bread wheat. However, LMW-GSs display high polymorphic protein complexes encoded by multiple genes, and elucidating the complex LMW-GS gene family in bread wheat remains challenging. In the present study, using conventional polymerase chain reaction (PCR) with conserved primers and high-resolution capillary electrophoresis, we developed a new molecular marker system for identifying LMW-GS gene family members. Based on sequence alignment of 13 LMW-GS genes previously identified in the Chinese bread wheat variety Xiaoyan 54 and other genes available in GenBank, PCR primers were developed and assigned to conserved sequences spanning the length polymorphism regions of LMW-GS genes. After PCR amplification, 17 DNA fragments in Xiaoyan 54 were detected using capillary electrophoresis. In total, 13 fragments were identical to previously identified LMW-GS genes, and the other 4 were derived from unique LMW-GS genes by sequencing. This marker system was also used to identify LMW-GS genes in Chinese Spring and its group 1 nulli-tetrasomic lines. Among the 17 detected DNA fragments, 4 were located on chromosome 1A, 5 on 1B, and 8 on 1D. The results suggest that this marker system is useful for large-scale identification of LMW-GS genes in bread wheat varieties, and for the selection of desirable LMW-GS genes to improve the bread-making quality in wheat molecular breeding programmes.

Longitudinal Linkages among Parent-Child Acculturation Discrepancy, Parenting, Parent-Child Sense of Alienation, and Adolescent Adjustment in Chinese Immigrant Families

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Kim, Su Yeong; Chen, Qi; Wang, Yijie; Shen, Yishan; Orozco-Lapray, Diana

2013-01-01

Parent-child acculturation discrepancy is a risk factor in the development of children in immigrant families. Using a longitudinal sample of Chinese immigrant families, the authors of the current study examined how unsupportive parenting and parent-child sense of alienation sequentially mediate the relationship between parent-child acculturation…

No association of the polymorphisms of the frizzled-related protein gene with peak bone mineral density in Chinese nuclear families

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Yue Hua

2010-01-01

Full Text Available Abstract Background The Wnt/beta-catenin signaling pathway plays an important role in skeletal development. Polymorphisms of frizzled-related protein (FRZB, an antagonist of this pathway, may generate variations in bone mineral density (BMD. In this study, we analyzed the association between FRZB genotypes and peak BMD variation in the spines and hips of two relatively large samples of Chinese female-offspring and male-offspring nuclear families. Methods We recruited 1,260 subjects from 401 female-offspring nuclear families and 1,296 subjects from 427 male-offspring nuclear families and genotyped four tagging single nucleotide polymorphisms (tagSNPs (rs6433993, rs409238, rs288324, and rs4666865 spanning the entire FRZB gene. The SNPs rs288326 and rs7775, which are associated with hip osteoarthritis, were not selected in this study because of their low minor allele frequencies (MAFs in Chinese people. The quantitative transmission disequilibrium test (QTDT was used to analyze the association between each SNP and haplotype with peak BMD in female- and male-offspring nuclear families. Results In the female-offspring nuclear families, we found no evidence of an association between either single SNPs or haplotypes and peak BMD in the spine or hip. In the male-offspring nuclear families, no within-family association was observed for either SNPs or haplotypes, although a significant total association was found between rs4666865 and spine BMD (P = 0.0299. Conclusion Our results suggest that natural variation in FRZB is not a major contributor to the observed variability in peak BMD in either Chinese females or males. Because ethnic differences in the FRZB genotypes may exist, other studies in different population are required to confirm such results.

Chinese Adolescents' Reasoning about Democratic and Authority-Based Decision Making in Peer, Family, and School Contexts.

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Helwig, Charles C.; Arnold, Mary Louise; Tan, Dingliang; Boyd, Dwight

2003-01-01

This study explored judgments and reasoning of Chinese 13- to 18-year-olds regarding making decisions involving children in peer, family, and school contexts. Findings indicated that judgments and reasoning about decision-making varied by social context and by the decision under consideration. Evaluations of procedures became more differentiated…

Reputation,Accounting Information and Debt Contracts in Chinese Family Firms

Institute of Scientific and Technical Information of China (English)

Hao Li

2010-01-01

This paper provides evidence to show that in the presence of imperfect formal institutions there is both a substitutional and a complementary relationship between accounting information and reputation, an informal institution. Empirical results using a sample of family firms listed in the Chinese A-share stock market from 2004 to 2007 show that in China, where the legal environment is far from perfect, the complementary relationship between reputation and accounting information is more pronounced than is the substitutional relationship. Thus, the aggregate effect is that a better reputation improves the usefulness of accounting information in debt contracts. Besides the aggregate effect, this paper also provides evidence of the substitutional and complementary relationships between reputation and accounting separately.

Common FLG mutation K4671X not associated with atopic dermatitis in Han Chinese in a family association study.

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Ruhong Cheng

Full Text Available BACKGROUND: Filaggrin gene (FLG mutations have been identified as the cause of ichthyosis vulgaris (IV and major predisposing factors for atopic dermatitis (AD. The relationship among AD, IV and FLG mutations has not been clarified yet. Mutations 3321delA and K4671X, two of the most common mutations in Chinese patients, were both statistically associated with AD in case-control studies. MATERIALS AND METHODS: A group of 100 family trios (a total of 300 members with one affected AD proband and both parents were recruited and screened for three filaggrin null mutations (3222del4, 3321delA and K4671X. The subjects' manifestations of AD and IV were assessed by two experienced dermatologists and recorded in detail. The relationship of common mutations to AD were assessed using both case-control and family-based tests of association. Filaggrin expression was measured in skin of 3 subjects with K4671X heterozygote and the normal control using quantitative real-time RT-PCR and immunohistochemistry. RESULTS: Of 100 probands for AD, 22 were carriers for common FLG mutations and only 2 of them were from 40 none-IV family trios (5.00%, consistent with that of the healthy control group (3.99%, P>0.05. Significant statistical associations were revealed between AD and 3321delA (P<0.001, odds ratio 12.28, 95% confidence interval 3.35-44.98 as well as K4671X (P = 0.002, odds ratio 4.53, 95% confidence interval 1.77-11.60. The family-based approach revealed that 3321delA was over-transmitted to AD offspring from parents (T:U = 12∶1, P = 0.003 but failed to demonstrate transmission disequilibrium between K4671X and AD (T:U = 10∶8, P = 0.815. Moreover, compared to the normal control, filaggrin expression at both mRNA and protein levels in epidermis of subjects with K4671X(heter was not reduced. CONCLUSIONS: AD patients from none-IV family trios have low probability of carrying FLG mutations. The present family samples confirmed the

Intergenerational transmission of dietary behaviours: A qualitative study of Anglo-Australian, Chinese-Australian and Italian-Australian three-generation families.

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Rhodes, Kate; Chan, Flora; Prichard, Ivanka; Coveney, John; Ward, Paul; Wilson, Carlene

2016-08-01

Family food choice is complex with a number of people within the family sharing food choice and preparation responsibilities. Differences in dietary behaviours also exist between various ethnic groups worldwide, and are apparent within multicultural nations such as Australia. This study examined the intergenerational transmission of eating behaviour through semi-structured family interviews with 27 three generation families (Anglo-Australian: n = 11, Chinese-Australian: n = 8, Italian-Australian: n = 8; N = 114). The influence of generation (grandparent, parent, child), role (grandmother, grandfather, mother, father, daughter, son), and ethnic background were considered. Thematic analysis identified that regardless of ethnic background, grandmothers and mothers dominated family food choice decisions even in families where fathers were primarily responsible for the preparation of family meals. The women in each generation influenced fruit and vegetable intake by controlling purchasing decisions (e.g., by shopping for food or editing family grocery shopping lists), insisting on consumption, monitoring and reminding, utilizing food as a prerequisite for conditional treats (e.g., eating fruit before being allowed snacks), instigating and enforcing food rules (e.g., fast food only on weekends), and restricting others' food choices. Grandparents and children shared a relationship that skipped the parent generation and influenced dietary behaviours bi-directionally. These findings have implications for the delivery of dietary health messages used in disease prevention interventions designed to successfully reach culturally and linguistically diverse populations and all members of multigenerational families. Copyright © 2016 Elsevier Ltd. All rights reserved.

A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome

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Shujuan Jiang

2014-11-01

Full Text Available Nail patella syndrome (NPS is an autosomal dominant disorder characterized by nail malformations, patellar apoplasia, or patellar hypoplasia. Mutations within the LMX1B gene are found in 85% of families with NPS; thus, this gene has been characterized as the causative gene of NPS. In this study, we identified a heterozygous microdeletion of the entire LMX1B gene using multiplex ligation-dependent probe amplification (MLPA in a Chinese family with NPS. The determination of the deletion breakpoints by Illumina genome-wide DNA analysis beadchip showed that the deletion was located in chromosome 9q33.3 and spanned about 0.66 Mb in size. This heterozygous deletion provides strong evidence for haploinsufficiency as the pathogenic mechanism of NPS.

Parental Expressivity and Parenting Styles in Chinese Families: Prospective and Unique Relations to Children’s Psychological Adjustment

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Chen, Stephen H.; Zhou, Qing; Eisenberg, Nancy; Valiente, Carlos; Wang, Yun

2012-01-01

SYNOPSIS Objectives Parents from different cultures differ in how frequently they express emotions. However, the generalizability of the relations between parental expressivity and child adjustment in non-Western cultures has not been extensively studied. The goal of the present study was to investigate prospective relations between parental expressivity within the family (positive, negative dominant, and negative submissive expressivity) and Chinese children’s psychological adjustment, above and beyond parenting styles. Design The study used two waves (3.8 years apart) of longitudinal data from a sample (n= 425) of children in Beijing (mean ages = 7.7 years at T1 and 11.6 years at T2). Parental expressivity and parenting styles were self-reported. To reduce the potential measurement overlap, items that tap parental expression of emotions toward the child were removed from the parenting style measure. Children’s adjustment was measured with parents’, teachers’, and peers’ or children’s reports. Results Consistent with findings with European American samples, parental negative dominant expressivity uniquely and positively predicted Chinese children’s externalizing problems controlling for prior externalizing problems, parenting styles, and family SES. Neither parental expressivity nor parenting styles uniquely predicted social competence. Conclusions Despite previously reported cultural differences in the mean levels of parental expressivity, some of the socialization functions of parental expressivity found in Western countries can be generalized to Chinese families. Although parental expressivity and parenting styles are related constructs, their unique relations to child’s adjustment suggest that they should be examined as distinct processes. PMID:23226715

[Common household traditional Chinese medicines].

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Zhang, Shu-Yuan; Li, Mei; Fu, Dan; Liu, Yang; Wang, Hui; Tan, Wei

2016-02-01

With the enhancement in the awareness of self-diagnosis among residents, it's very common for each family to prepare common medicines for unexpected needs. Meanwhile, with the popularization of the traditional Chinese medicine knowledge, the proportion of common traditional Chinese medicines prepared at residents' families is increasingly higher than western medicines year by year. To make it clear, both pre-research and closed questionnaire research were adopted for residents in Chaoyang District, Beijing, excluding residents with a medical background. Based on the results of data, a analysis was made to define the role and influence on the quality of life of residents and give suggestions for relevant departments to improve the traditional Chinese medicine popularization and promote the traditional Chinese medicine market. Copyright© by the Chinese Pharmaceutical Association.

Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation

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Young Wieyen; Zhao Lidong; Qian Yaping; Wang Qiuju; Li Ning; Greinwald, John H.; Guan Minxin

2005-01-01

Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here the clinical, genetic, and molecular characterization of four Chinese pedigrees with aminoglycoside-induced and nonsyndromic hearing impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects, although these subjects share some common features: bilateral and sensorineural hearing impairment. Strikingly, these Chinese pedigrees exhibited extremely low penetrance of hearing loss (5.2%, 4.8%, 4.2%, and 13.3%, respectively, and with an average 8% penetrance). In particular, four of all five affected matrilineal relatives of these pedigrees had aminoglycoside-induced hearing loss. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical homoplasmic A1555G mutation, associated with hearing impairment in many families from different genetic backgrounds. The fact that mtDNA of those pedigrees belonged to different haplogroups R9a, N9a, D4a, and D4 suggested that the A1555G mutation occurred sporadically and multiplied through evolution of the mtDNA in China. However, there was the absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in these Chinese families. These data imply that the nuclear background or/and mitochondrial haplotype may not play a significant role in the phenotypic expression of the A1555G mutation in these Chinese pedigrees. However, aminoglycoside appears to be a major modifier factor for the phenotypic manifestation of the A1555G mutation in these Chinese families

Common mutations identified in the MLH1 gene in familial Lynch syndrome

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Jisha Elias

2017-12-01

In this study we identified three families with Lynch syndrome from a rural cancer center in western India (KCHRC, Goraj, Gujarat, where 70-75 CRC patients are seen annually. DNA isolated from the blood of consented family members of all three families (8-10 members/family was subjected to NGS sequencing methods on an Illumina HiSeq 4000 platform. We identified unique mutations in the MLH1 gene in all three HNPCC family members. Two of the three unrelated families shared a common mutation (154delA and 156delA. Total 8 members of a family were identified as carriers for 156delA mutation of which 5 members were unaffected while 3 were affected (age of onset: 1 member <30yrs & 2 were>40yr. The family with 154delA mutation showed 2 affected members (>40yr carrying the mutations.LYS618DEL mutation found in 8 members of the third family showed that both affected and unaffected carried the mutation. Thus the common mutations identified in the MLH1 gene in two unrelated families had a high risk for lynch syndrome especially above the age of 40.

Acculturation Strategy, Integration Paradoxes and Educational Adaptation--A Case Study of Chinese Visiting Scholar's Family in the United States

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Weidong, Li; Chen, Sisi

2017-01-01

In this case study, we developed a theoretical framework for examining the relationship between acculturation strategy and educational adaptation. By interviews and observations of one Chinese visiting scholar's family in the United States, we found that the family utilized "integration" as the acculturation strategy to adapt to the US…

Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families

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Zhu Yi; Qian Yaping; Tang Xiaowen; Wang Jindan; Yang Li; Liao Zhisu; Li Ronghua; Ji Jinzhang; Li Zhiyuan; Chen Jianfu; Choo, Daniel I.; Lu Jianxin; Guan Minxin

2006-01-01

We report here the clinical, genetic, and molecular characterization of two Chinese families with aminoglycoside induced and non-syndromic hearing impairment. Clinical and genetic evaluations revealed the variable severity and age-of-onset in hearing impairment in these families. Strikingly, there were extremely low penetrances of hearing impairment in these Chinese families. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical G7444A mutation associated with hearing loss. Indeed, the G7444A mutation in the CO1 gene and the precursor of tRNA Ser(UCN) gene is present in homoplasmy only in the maternal lineage of those pedigrees but not other members of these families and 164 Chinese controls. Their mitochondrial genomes belong to the Eastern Asian haplogroups C5a and D4a, respectively. In fact, the occurrence of the G7444A mutation in these several genetically unrelated subjects affected by hearing impairment strongly indicates that this mutation is involved in the pathogenesis of hearing impairment. However, there was the absence of other functionally significant mtDNA mutations in two Chinese pedigrees carrying the G7444A mutation. Therefore, nuclear modifier gene(s) or aminoglycoside(s) may play a role in the phenotypic expression of the deafness-associated G7444A mutation in these Chinese pedigrees

Couple Relationship Standards and Migration: Comparing Hong Kong Chinese with Australian Chinese.

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Halford, W Kim; Leung, Patrick; Hung-Cheung, Chan; Chau-Wan, Lau; Hiew, Danika; van de Vijver, Fons J R

2017-12-14

Rates of international migration are increasing, which raises the question of how migration might influence couple relationship standards and impact on the standards of migrants forming intercultural relationships. We compared relationship standards in n = 286 Chinese living in Hong Kong, China, with standards in n = 401 Chinese migrants to a Western country (Australia) by administering the Chinese-Western Intercultural Couple Standards Scale (CWICSS). We also compared these two groups to n = 312 Westerners living in Australia. We first tested the structural invariance of the CWICSS across the three samples with a multigroup confirmatory factor analysis. There was marginal but acceptable fit of a model of two positively correlated latent factors: Couple Bond (with four indicators, such as demonstration of love and caring) and Family Responsibility (also with four indicators, such as extended family relations and preserving face). Within the limitations of the study, results suggest migration is associated predominantly with differences in women's, but not men's, relationship standards. Migrant Chinese women show alignment of Couple Bond standards with Western standards, and divergence of Family Responsibility standards from Western standards. Discussion focused on how migration and intercultural relationship experiences might differentially influence various domains of relationship standards, gender differences in migration effects on standards, and the implications for working with culturally diverse couples. © 2017 Family Process Institute.

Child Psychological Maltreatment and Its Correlated Factors in Chinese Families.

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Zhang, Wenjing; Ma, Yating; Chen, Jingqi

2016-01-01

The present study aimed to explore the prevalence and frequency of child psychological maltreatment and its correlated factors in Chinese families. A cross-sectional investigation was conducted among 1,002 parents of primary school students in Yuncheng City, China. Data were collected using the self-report questionnaire anonymously. Results showed that 696 (69.5%) surveyed parents had different extents of psychological maltreatment toward their children in the past 3 months. The high prevalence of parental psychology maltreatment was significantly associated with high scores on parental over-reactivity and low scores on recognition of child psychology maltreatment. These findings indicate that it is urgent to develop cultural interventions to raise parents' awareness of preventing child psychological maltreatment and to help parents use nonviolent child rearing in China.

Application of transcriptomics in Chinese herbal medicine studies

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Hsin-Yi Lo

2012-04-01

Full Text Available Transcriptomics using DNA microarray has become a practical and popular tool for herbal medicine study because of high throughput, sensitivity, accuracy, specificity, and reproducibility. Therefore, this article focuses on the overview of DNA microarray technology and the application of DNA microarray in Chinese herbal medicine study. To understand the number and the objectives of articles utilizing DNA microarray for herbal medicine study, we surveyed 297 frequently used Chinese medicinal herbs listed in Pharmacopoeia Commission of People’s Republic of China. We classified these medicinal herbs into 109 families and then applied PudMed search using “microarray” and individual herbal family as keywords. Although thousands of papers applying DNA microarray in Chinese herbal studies have been published since 1998, most of the articles focus on the elucidation of mechanisms of certain biological effects of herbs. Construction of the bioactivity database containing large-scaled gene expression profiles of quality control herbs can be applied in the future to analyze the biological events induced by herbs, predict the therapeutic potential of herbs, evaluate the safety of herbs, and identify the drug candidate of herbs. Moreover, the linkage of systems biology tools, such as functional genomics, transcriptomics, proteomics, metabolomics, pharmacogenomics and toxicogenomics, will become a new translational platform between Western medicine and Chinese herbal medicine.

Multi-Level Family Factors and Affective and Behavioral Symptoms of Oppositional Defiant Disorder in Chinese Children

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Yixin Tang

2017-06-01

Full Text Available Given the important role of family environment in children's psychological development, the objective of this study was to examine the linkages between family factors at the whole, dyadic, and individual levels and two dimensions (affective and behavioral of Oppositional Defiant Disorder (ODD symptoms in Chinese children. Participants comprised of 80 father-child dyads and 169 mother-child dyads from families with ODD children. The results indicated that multilevel family factors were differently associated with children's affective and behavioral ODD symptoms. All the family factors at the dyadic and individual levels were significantly associated with child affective ODD symptoms. However, only the most proximal factors (parent-child relationship and child emotion regulation, which were directly related to child were significantly related to child behavioral ODD symptoms. The present study extends the current knowledge regarding the relationships between family factors and two dimensions of child ODD symptoms by testing the comprehensive multilevel family factors model. This study also recommends that future interventions for ODD children should consider the multi-level family factors to enhance intervention efficacy.

Hereditary Transthyretin Amyloidosis in Eight Chinese Families

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Ling-Chao Meng

2015-01-01

Full Text Available Background: Mutations of transthyretin (TTR cause the most common type of autosomal-dominant hereditary systemic amyloidosis, which occurs worldwide. To date, more and more mutations in the TTR gene have been reported. Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family. The purpose of this study was to find out the clinicopathologic and genetic features of Chinese patients with hereditary TTR amyloidosis. Methods: Clinical and necessary examination materials were collected from nine patients of eight families with hereditary TTR amyloidosis at Peking University First Hospital from January 2007 to November 2014. Sural nerve biopsies were taken for eight patients and skin biopsies were taken in the calf/upper arm for two patients, for light and electron microscopy examination. The TTR genes from the nine patients were analyzed. Results: The onset age varied from 23 to 68 years. The main manifestations were paresthesia, proximal and/or distal weakness, autonomic dysfunction, cardiomyopathy, vitreous opacity, hearing loss, and glossohypertrophia. Nerve biopsy demonstrated severe loss of myelinated fibers in seven cases and amyloid deposits in three. One patient had skin amyloid deposits which were revealed from electron microscopic examination. Genetic analysis showed six kinds of mutations of TTR gene, including Val30Met, Phe33Leu, Ala36Pro, Val30Ala, Phe33Val, and Glu42Gly in exon 2. Conclusions: Since the pathological examinations of sural nerve were negative for amyloid deposition in most patients, the screening for TTR mutations should be performed in all the adult patients, who are clinically suspected with hereditary TTR amyloidosis.

A network analysis of the Chinese medicine Lianhua-Qingwen formula to identify its main effective components.

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Wang, Chun-Hua; Zhong, Yi; Zhang, Yan; Liu, Jin-Ping; Wang, Yue-Fei; Jia, Wei-Na; Wang, Guo-Cai; Li, Zheng; Zhu, Yan; Gao, Xiu-Mei

2016-02-01

Chinese medicine is known to treat complex diseases with multiple components and multiple targets. However, the main effective components and their related key targets and functions remain to be identified. Herein, a network analysis method was developed to identify the main effective components and key targets of a Chinese medicine, Lianhua-Qingwen Formula (LQF). The LQF is commonly used for the prevention and treatment of viral influenza in China. It is composed of 11 herbs, gypsum and menthol with 61 compounds being identified in our previous work. In this paper, these 61 candidate compounds were used to find their related targets and construct the predicted-target (PT) network. An influenza-related protein-protein interaction (PPI) network was constructed and integrated with the PT network. Then the compound-effective target (CET) network and compound-ineffective target network (CIT) were extracted, respectively. A novel approach was developed to identify effective components by comparing CET and CIT networks. As a result, 15 main effective components were identified along with 61 corresponding targets. 7 of these main effective components were further experimentally validated to have antivirus efficacy in vitro. The main effective component-target (MECT) network was further constructed with main effective components and their key targets. Gene Ontology (GO) analysis of the MECT network predicted key functions such as NO production being modulated by the LQF. Interestingly, five effective components were experimentally tested and exhibited inhibitory effects on NO production in the LPS induced RAW 264.7 cell. In summary, we have developed a novel approach to identify the main effective components in a Chinese medicine LQF and experimentally validated some of the predictions.

Relations of Maternal Style and Child Self-Concept to Autobiographical Memories in Chinese, Chinese Immigrant, and European American 3-Year-Olds

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Wang, Qi

2006-01-01

The relations of maternal reminiscing style and child self-concept to children's shared and independent autobiographical memories were examined in a sample of 189 three-year-olds and their mothers from Chinese families in China, first-generation Chinese immigrant families in the United States, and European American families. Mothers shared…

Does “Tiger Parenting” Exist? Parenting Profiles of Chinese Americans and Adolescent Developmental Outcomes

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Kim, Su Yeong; Wang, Yijie; Orozco-Lapray, Diana; Shen, Yishan; Murtuza, Mohammed

2013-01-01

“Tiger parenting,” as described by Chua (2011), has put parenting in Asian American families in the spotlight. The current study identified parenting profiles in Chinese American families and explored their effects on adolescent adjustment. In a three-wave longitudinal design spanning eight years, from early adolescence to emerging adulthood, adolescents (54% female), fathers and mothers from 444 Chinese American families reported on eight parenting dimensions (e.g., warmth and shaming) and six developmental outcomes (e.g., GPA and academic pressure). Latent profile analyses on the eight parenting dimensions demonstrated four parenting profiles: supportive, tiger, easygoing, and harsh parenting. Over time, the percentage of parents classified as tiger parents decreased among mothers but increased among fathers. Path analyses showed that the supportive parenting profile, which was the most common, was associated with the best developmental outcomes, followed by easygoing parenting, tiger parenting, and harsh parenting. Compared with the supportive parenting profile, a tiger parenting profile was associated with lower GPA and educational attainment, as well as less of a sense of family obligation; it was also associated with more academic pressure, more depressive symptoms and a greater sense of alienation. The current study suggests that, contrary to the common perception, tiger parenting is not the most typical parenting profile in Chinese American families, nor does it lead to optimal adjustment among Chinese American adolescents. PMID:23646228

Identifying the essential components of cultural competence in a Chinese nursing context: A qualitative study.

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Cai, Duanying; Kunaviktikul, Wipada; Klunklin, Areewan; Sripusanapan, Acharaporn; Avant, Patricia Kay

2017-06-01

This qualitative study using semi-structured interviews was conducted to identify the essential components of cultural competence from the perspective of Chinese nurses. A purposive sample of 20 nurse experts, including senior clinical nurses, nurse administrators, and educators in transcultural nursing, was recruited. Using thematic analysis, four themes: awareness, attitudes, knowledge, and skills, with two subthemes for each, were identified. Notably, culture in China was understood in a broad way. The participants' responses focused upon demographic attributes, individuality, and efforts to facilitate quality care rather than on the cultural differences of ethnicity and race and developing the capacity to change discrimination or health disparities. A greater understanding of cultural competence in the Chinese nursing context, in which a dominant cultural group exists, is essential to facilitate the provision of culturally competent care to diverse populations. © 2016 John Wiley & Sons Australia, Ltd.

Parent Training with High-Risk Immigrant Chinese Families: A Pilot Group Randomized Trial Yielding Practice-Based Evidence

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Lau, Anna S.; Fung, Joey J.; Ho, Lorinda Y.; Liu, Lisa L.; Gudino, Omar G.

2011-01-01

We studied the efficacy and implementation outcomes of a culturally responsive parent training (PT) program. Fifty-four Chinese American parents participated in a wait-list controlled group randomized trial (32 immediate treatment, 22 delayed treatment) of a 14-week intervention designed to address the needs of high-risk immigrant families.…

Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families.

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Healey, Emma; Taylor, Natalie; Greening, Sian; Wakefield, Claire E; Warwick, Linda; Williams, Rachel; Tucker, Kathy

2017-12-01

PurposeRecommendations for BRCA1 and BRCA2 mutation carriers to disseminate information to at-risk relatives pose significant challenges. This study aimed to quantify family dissemination, to explain the differences between fully informed families (all relatives informed verbally or in writing) and partially informed families (at least one relative uninformed), and to identify dissemination barriers.MethodsBRCA1 and BRCA2 mutation carriers identified from four Australian hospitals (n=671) were invited to participate in the study. Distress was measured at consent using the Kessler psychological distress scale (K10). A structured telephone interview was used to assess the informed status of relatives, geographical location of relatives, and dissemination barriers. Family dissemination was quantified, and fully versus partially informed family differences were examined. Dissemination barriers were thematically coded and counted.ResultsA total of 165 families participated. Information had been disseminated to 81.1% of relatives. At least one relative had not been informed in 52.7% of families, 4.3% were first-degree relatives, 27.0% were second-degree relatives, and 62.0% were cousins. Partially informed families were significantly larger than fully informed families, had fewer relatives living in close proximity, and exhibited higher levels of distress. The most commonly recorded barrier to dissemination was loss of contact.ConclusionLarger, geographically diverse families have greater difficulty disseminating BRCA mutation risk information to all relatives. Understanding these challenges can inform future initiatives for communication, follow-up and support.

Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families

International Nuclear Information System (INIS)

Sun Yanhong; Wei Qiping; Zhou Xiangtian; Qian Yaping; Zhou Jian; Lu Fan; Qu Jia; Guan Minxin

2006-01-01

We report here the clinical, genetic, and molecular characterization of three Chinese families with maternally transmitted Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. In the affected matrilineal relatives, the loss of central vision is bilateral, the fellow eye becoming affected either simultaneously (45%) or sequentially (55%). The penetrances of vision loss in these pedigrees were 27%, 50%, and 60%, respectively. The age-at-onset of vision loss in these families was 14, 19, and 24 years, respectively. Furthermore, the ratios between affected male and female matrilineal relatives were 1:1, 1:1.2, and 1:2, respectively. Mutational analysis of mitochondrial DNA revealed the presence of homoplasmic ND6 T14484C mutation, which has been associated with LHON. The incomplete penetrance and phenotypic variability implicate the involvement of nuclear modifier gene(s), environmental factor(s) or mitochondrial haplotype(s) in the phenotypic expression of the LHON-associated T14484C mutation in these Chinese pedigrees

Family-environmental factors associated with attention deficit hyperactivity disorder in Chinese children: a case-control study.

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Xianming du Prel Carroll

Full Text Available Attention deficit hyperactivity disorder (ADHD is one of the most common psychiatric disorders, affecting an estimated 5 to 12% of school-aged children worldwide. From 15 to 19 million Chinese children suffer from ADHD. The aim of this study was to investigate the association between family-environmental factors and ADHD in a sample of Chinese children.A pair-matched, case-control study was conducted with 161 ADHD children and 161 non-ADHD children of matching age and sex, all from 5-18 years of age. The ADHD subjects and the normal controls were all evaluated via structured diagnostic interviews. We examined the association between family-environmental factors and ADHD using the conditional multiple logistic regression with backward stepwise selection to predict the associated factors of ADHD.Having experienced emotional abuse and being a single child were both significant factors associated with children diagnosed with ADHD. ADHD subjects were more likely to have suffered from emotional abuse (OR = 11.09, 95% CI = 2.15-57.29, P = 0.004 and have been a single child in the family (OR = 6.32, 95% CI = 2.09-19.14, P = 0.001 when compared to normal controls. The results were not modified by other confounding factors.Our findings provide evidence that family-environmental factors are associated with ADHD among children in China. These findings, if confirmed by future research, may help to decrease ADHD by increasing the awareness of the effects of childhood emotional abuse.

Four Novel Mutations in the ALPL Gene in Chinese patients with Odonto, Childhood and Adult Hypophosphatasia.

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Xu, Lijun; Pang, Qianqian; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiaoping; Xia, Weibo

2018-05-03

Background and purpose: Hypophosphatasiais (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase activity. ALPL , the only gene related with HPP, encodes tissue non-specific alkaline phosphatase (TNSALP). Few studies were carried out in ALPL gene mutations in the Chinese population with HPP. The purpose of this study is to elucidate the clinical and genetic characteristics of HPP in 5 unrelated Chinese families and 2 sporadic patients. Methods : 10 clinically diagnosed HPP patients from 5 unrelated Chinese families and 2 sporadic patients and 50 healthy controls were genetic investigated. All 12 exons and exon-intron boundaries of the ALPL gene were amplified by polymerase chain reaction and directly sequenced. The laboratory and radiological investigations were conducted simultaneously in these 10 HPP patients. A three-dimensional model of the TNSALP was used to predict the dominant negative effect of identified missense mutations. Results : 3 odonto, 3 childhood and 4 adult types of HPP were clinically diagnosed. 10 mutations were identified in 5 unrelated Chinese families and 2 sporadic patients, including 8 missense mutations and 2 frameshift mutations. Of which, 4 were novel: 1 frameshift mutation (p.R138Pfsx45); 3 missense mutations (p.C201R, p.V459A, p.C497S). No identical mutations and any other new ALPL mutations were found in unrelated 50 healthy controls. Conclusions : Our study demonstrated that the ALPL  gene mutations are responsible for HPP in these Chinese families. These findings will be useful for clinicians to improve understanding of this heritable bone disorder. ©2018 The Author(s).

Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation.

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Cheng, Ruhong; Yan, Ming; Ni, Cheng; Zhang, Jia; Li, Ming; Yao, Zhirong

2016-10-01

Recently, homozygous mutations in the desmoglein-1 (DSG1) gene and heterozygous mutation in the desmoplakin (DSP) gene have been demonstrated to be associated with severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome (Mendelian Inheritance in Man no. 615508). We aim to identify the molecular basis for a Chinese pedigree of SAM syndrome. A Chinese pedigree of SAM syndrome was subjected to mutation detection in the DSG1 gene. Sequence analysis of the DSG1 gene and quantitative reverse transcriptase polymerase chain reaction analysis for gene expression of DSG1 using cDNA derived from the epidermis of patients and controls were both performed. Skin biopsies were also taken from patients for pathological study and transmission electron microscopy observation. Novel homozygous splicing mutation c.1892-1delG in the exon-intron border of the DSG1 gene has been demonstrated to be associated with SAM syndrome. We report a new family of SAM syndrome of Asian decent and expand the spectrum of mutations in the DSG1 gene. © 2016 Japanese Dermatological Association.

How people from Chinese backgrounds make sense of and respond to the experiences of mental distress: Thematic analysis.

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Yeung, E Y W; Irvine, F; Ng, S M; Tsang, K M S

2017-10-01

Many Chinese people do not contact mental health services when they first develop mental health problems. It is therefore important to find out reasons for low uptake of services so that strategies can be identified to promote early intervention. WHAT IS ALREADY KNOWN ABOUT THE TOPIC?: Most Chinese people only come into contact with mental health services during crisis situations. Language difference, lack of knowledge of mainstream services and stigma attached to mental health problems are barriers to access and utilize mental health services. WHAT THE STUDY ADDS TO THE INTERNATIONAL EVIDENCE?: Chinese people apply both Western medication and traditional healing to manage distress caused by mental health problems. Because of the extreme stigma associated with mental health problems, Chinese people are reluctant to accept support from their own cultural groups outside their family. Family plays a major role in caring for relatives with mental health problems. Families are prepared to travel across the world in search of folk healing if not available in Western societies. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: It is important to recognize the different approaches to understanding and managing mental health problems among Chinese people, otherwise they will be dissuaded from engaging with mental health services if their beliefs are disregarded and invalidated. Services that involve Chinese speaking mental health workers can address the issue of language differences and sensitive mental health issues within the Chinese community. Introduction Late presentation and low utilization of mental health services are common among Chinese populations. An understanding of their journey towards mental health care helps to identify timely and appropriate intervention. Aim We aimed to examine how Chinese populations make sense of the experiences of mental distress, and how this understanding influences their pathways to mental health care. Method We undertook in-depth interviews

Chinese family adaptation during the postpartum period and its influencing factors: A questionnaire survey.

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Lu, Hong; Zhu, Xiu; Hou, Rui; Wang, De-hui; Zhang, Hai-juan; While, Alison

2012-04-01

this study aimed to explore new parents' views and experiences during their transition to parenthood. in China the one-child birth policy may bring more stress and challenges for the new parents due to the lack of experience and greater expectations of their new role. China is also at a stage of rapid economic and social development which creates new conditions for parenthood. a cross-sectional survey was conducted from February to September 2009 among 232 mothers and fathers, yielding a 83.6% response rate (n=194 couples). The questionnaire included: the Family Assessment Device-General Function Scale, the Family Resources Scale, the Family Adaptation Scale, and the Chinese Perceived Stress Scale. there were no significant differences between mothers' adaptation and fathers' adaptation during the postpartum period, as well as their perceived stress, family function and family resources (p>0.05). Method of childbirth was not related to adaptation. About 29% of variance in mothers' adaptation could be explained by satisfaction with the infant's gender (B=0.295, padaptation (B=0.236, padaptation could be explained by mothers' adaptation (B=0.268, pimportance of family resources to family adaptation and antenatal and postnatal education programmes as part of family-centred care. The possible influences of culture and policies need to be considered by health-care professionals developing strategies to facilitate family adaptation to the early parenthood. Copyright © 2011 Elsevier Ltd. All rights reserved.

Performance of modified blood pressure-to-height ratio for identifying hypertension in Chinese and American children.

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Zhang, Yuanyuan; Ma, Chuanwei; Yang, Lili; Bovet, Pascal; Xi, Bo

2018-04-06

Blood pressure-to-height ratio (BPHR) has been reported to perform well for identifying hypertension (HTN) in adolescents but not in young children. Our study was aimed to evaluate the performance of BPHR and modified BPHR (MBPHR) for screening HTN in children. A total of 5268 Chinese children (boys: 53.1%) aged 6-12 years and 5024 American children (boys: 48.1%) aged 8-12 years were included in the present study. BPHR was calculated as BP/height (mmHg/cm). MBPHR7 was calculated as BP/(height + 7*(13-age)). MBPHR3 was calculated as BP/(height + 3*(13-age)). We used receiver-operating characteristic curve analysis to assess the performance of the three ratios for identifying HTN in children as compared to the 2017 U.S. clinical guideline as the "gold standard". The prevalence of HTN in Chinese and American children was 9.4% and 5.4%, respectively, based on the 2017 U.S. guideline. The AUC was larger for MBPHR3 than BPHR and MBPHR7. All three ratios had optimal negative predictive value (~100%). The positive predictive value (PPV) was higher for MBPHR3 than BPHR in both Chinese (43.9% vs. 37.9%) and American (39.1% vs. 26.3%) children. In contrast, the PPV was higher for MBPHR7 than BPHR in Chinese children (47.4% vs. 37.9%) but not in American children (24.8% vs. 26.3%). In summary, MBPHR3 overall performed better than MBPHR7 and BPHR for identifying HTN in children. However, the three ratios had low PPV (<50%) as compared to the 2017 U.S. guidelines, which makes these ratios of limited use for HTN screening in children.

Identify the consumption patterns of the second generation Chinese middle class. Does culture influence their consumption habits?

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Liu, Kim Man

2012-01-01

Background: The 1978 political social reform in China has led to the emergence of the rapid and fast growing urban ‘middle class’ population. With the rise of the large population of middle class consumers, global market developers and opportunists are targeting this group of people to maximize their profits in developing countries. This research aimed to identify the consumption patterns of the second generation Chinese middle class and to investigate if their unique Chinese culture influenc...

Genomic and transcriptome profiling identified both human and HBV genetic variations and their interactions in Chinese hepatocellular carcinoma

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Hua Dong

2015-12-01

Full Text Available Interaction between HBV and host genome integrations in hepatocellular carcinoma (HCC development is a complex process and the mechanism is still unclear. Here we described in details the quality controls and data mining of aCGH and transcriptome sequencing data on 50 HCC samples from the Chinese patients, published by Dong et al. (2015 (GEO#: GSE65486. In additional to the HBV-MLL4 integration discovered, we also investigated the genetic aberrations of HBV and host genes as well as their genetic interactions. We reported human genome copy number changes and frequent transcriptome variations (e.g. TP53, CTNNB1 mutation, especially MLL family mutations in this cohort of the patients. For HBV genotype C, we identified a novel linkage disequilibrium region covering HBV replication regulatory elements, including basal core promoter, DR1, epsilon and poly-A regions, which is associated with HBV core antigen over-expression and almost exclusive to HBV-MLL4 integration.

Family conflict among Chinese- and Mexican-origin adolescents and their parents in the U.S.: an introduction.

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Juang, Linda P; Umaña-Taylor, Adriana J

2012-01-01

This volume explores how cultural and family contexts inform parent-adolescent conflict and adjustment among Chinese- and Mexican-origin families in the United States. Collectively, the chapters examine outcomes associated with family conflict and provide an in-depth analysis of how and for whom conflict is related to adjustment. Findings, for example, illustrate how cultural factors (e.g., acculturation) modify the links between conflict and adjustment. Furthermore, the collection allows for a simultaneous examination of normative, everyday parent-adolescent conflict and conflict that is specific to the process of cultural adaptation, and furthers our understanding of how both developmental and cultural sources of conflict are linked to adjustment. © 2012 Wiley Periodicals, Inc., A Wiley Company.

Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation

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Wang Qiuju; Li Qingzhong; Han Dongyi; Zhao Yali; Zhao Lidong; Qian Yaping; Yuan Hu; Li Ronghua; Zhai Suoqiang; Young Wieyen; Guan Minxin

2006-01-01

We report here the clinical, genetic, and molecular characterization of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Five of nine matrilineal relatives had aminoglycoside-induced hearing loss. These matrilineal relatives exhibited variable severity and audiometric configuration of hearing impairment, despite sharing some common features: being bilateral and having sensorineural hearing impairment. Sequence analysis of mitochondrial DNA (mtDNA) in the pedigree identified 16 variants and the homoplasmic 12S rRNA C1494T mutation, which was associated with hearing loss in the other large Chinese family. In fact, the occurrence of the C1494T mutation in these genetically unrelated pedigrees affected by hearing impairment strongly indicated that this mutation is involved in the pathogenesis of aminoglycoside-induced and nonsyndromic hearing loss. However, incomplete penetrance of hearing loss indicated that the C1494T mutation itself is not sufficient to produce a clinical phenotype but requires the involvement of modifier factors for the phenotypic expression. Those mtDNA variants, showing no evolutional conservation, may not have a potential modifying role in the pathogenesis of the C1494T mutation. However, nuclear background seems to contribute to the phenotypic variability of matrilineal relatives in this family. Furthermore, aminoglycosides modulate the expressivity and penetrance of deafness associated with the C1494T mutation in this family

Honoring Identity Through Mealtimes in Chinese Canadian Immigrants.

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Lam, Ivy T Y; Keller, Heather H

2015-11-01

Mealtimes are opportunities for social interactions and expressions of individual and family identity, and serve as a microcosm of the broader lives of families living with dementia. The Eating Together study and its resulting Life Nourishment Theory (LNT) explicated the importance of mealtimes for honouring individual and family identities in the context of dementia. This sub-study examined a specific ethnocultural group with cultural food-ways and caring expectations, to determine if the concept of honouring identity needed to be modified or extended. Using active interview techniques, two Cantonese speaking researchers completed dyad/triad family and individual interviews with six Chinese Canadian immigrant families, recruited from two service providers in a large, urban, multicultural city. This sub-study provided insight into the challenges and rewards of mealtimes for Chinese immigrant families with dementia in the community and specifically provided further insights into the honouring identity concept. Although LNT and specifically the honouring identity concept was generally confirmed in this group, some culturally-specific themes were also identified. This work serves as a basis for future studies examining the meaning and experience of mealtimes in specific cultural groups living with dementia. Such work would confirm if the LNT can be applied to specific ethnocultural groups as well as the general population living with dementia. © The Author(s) 2012.

Understanding the Culture of Chinese Children and Families

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Cheung, Ruth; Nelson, Warren; Advincula, Luzelle; Cureton, Virginia Young; Canham, Daryl L.

2005-01-01

Providing appropriate health care to a client can be accomplished only in an environment that is sensitive to the cultural values and beliefs of the client. As the population of first-and second-generation Chinese immigrants increases in the United States, the need to develop culturally sensitive health care becomes significant. Chinese immigrants…

Factors Associated with Parent-Child (Dis)Agreement on Child Behavior and Parenting Problems in Chinese Immigrant Families

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Fung, Joey J.; Lau, Anna S.

2010-01-01

We examined familial and cultural factors predicting parent-child (dis)agreement on child behavior and parenting problems. Immigrant Chinese parents (89.7% mothers; M age = 44.24 years) and their children (62 boys; 57.9%) between the ages of 9 and 17 years (M = 11.9 years, SD = 2.9) completed measures of parent punitive behavior and child…

Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC.

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Zhang, Nian; Wang, Juan; Liu, Shuting; Liu, Mugen; Jiang, Fagang

2018-06-08

To describe the clinical and genetic findings in a Chinese family with three sibs diagnosed with Usher syndrome type IIC. Four members received ophthalmic and otologic tests to ascertain the clinical characteristics. According to the clinical phenotype, we focused attention on a total of 658 genes associated with them. We screened the possible pathogenic mutation sites, used Sanger to exclude the false positive and verified whether there were co-segregated among the family members. Typical fundus features found in the proband supported the diagnosis of retinitis pigmentosa (RP). Audiometric test indicated moderate to severe sensorineural hearing impairment while the vestibular function was normal. Whole-exome sequencing identified the presence of two novel compound heterozygous mutations in ADGRV1, a known gene responsible for Usher syndrome type IIC. Mutationc.15008delG/p.Gly5003AlafsTer13 was inherited from the mother while c.18383_18386dupACAG/p.His6130GlnfsTer84 was inherited from the father, and they were co-segregated with the disease phenotype in the family. The mutations found in our study not only broaden the mutation spectrum of ADGRV1, but also provide assistances for future genetic diagnosis and treatment for Usher syndrome patients.

A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family

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Xiu-Kun Cui

2017-05-01

Full Text Available AIM: To investigate the genetic mutations that are associated the hereditary autosomal dominant cataract in a Chinese family. METHODS: A Chinese family consisting of 20 cataract patients (including 9 male and 11 female and 2 unaffected individuals from 5 generations were diagnosed to be a typical autosomal dominant cataract pedigree. Genomic DNA samples were extracted from the peripheral blood cells of the participants in this pedigree. Exon sequence was used for genetic mutation screening. In silico analysis was used to study the structure characteristics of connexin 46 (CX46 mutant. Immunoblotting was conduceted for testing the expression of CX46. RESULTS: To determine the involved genetic mutations, 11 well-known cataract-associated genes (cryaa, cryab, crybb1, crybb2, crygc, crygd, Gja3, Gja8, Hsf4, Mip and Pitx3 were chosen for genetic mutation test by using exon sequencing. A novel cytosine insertion at position 1195 of CX46 cDNA (c.1194_1195ins C was found in the samples of 5 tested cataract patients but not in the unaffected 2 individuals nor in normal controls, which resulted in 30 amino acids more extension in CX46C-terminus (cx46fs400 compared with the wild-type CX46. In silico protein structure analysis indicated that the mutant showed distinctive hydrophobicity and protein secondary structure compared with the wild-type CX46. The immunoblot results revealed that CX46 protein, which expressed in the aging cataract lens tissues, was absence in the proband lens. In contrast, CX50, alpha A-crystallin and alphaB-crystallin expressed equally in both proband and aging cataract tissues. Those results revealed that the cx46fs400 mutation could impair CX46 protein expression. CONCLUSION: The insertion of cytosine at position 1195 of CX46 cDNA is a novel mutation site that is associated with the autosomal dominant cataracts in this Chinese family. The C-terminal frameshift mutation is involved in regulating CX46 protein expression.

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

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Jiang, Lichun; Liang, Xiaofang; Li, Yumei; Wang, Jing; Zaneveld, Jacques Eric; Wang, Hui; Xu, Shan; Wang, Keqing; Wang, Binbin; Chen, Rui; Sui, Ruifang

2015-09-04

Usher syndrome (USH) is the most common disease causing combined deafness and blindness. It is predominantly an autosomal recessive genetic disorder with occasionally digenic cases. Molecular diagnosis of USH patients is important for disease management. Few studies have tried to find the genetic cause of USH in Chinese patients. This study was designed to determine the mutation spectrum of Chinese USH patients. We applied next generation sequencing to characterize the mutation spectrum in 67 independent Chinese families with at least one member diagnosed with USH. Blood was collected at Peking Union Medical College Hospital. This cohort is one of the largest USH cohorts reported. We utilized customized panel and whole exome sequencing, variant analysis, Sanger validation and segregation tests to find disease causing mutations in these families. We identified biallelic disease causing mutations in known USH genes in 70 % (49) of our patients. As has been previously reported, MYO7A is the most frequently mutated gene in our USH type I patients while USH2A is the most mutated gene in our USH type II patients. In addition, we identify mutations in CLRN1, DFNB31, GPR98 and PCDH15 for the first time in Chinese USH patients. Together, mutations in CLRN1, DNFB31, GPR98 and PCDH15 account for 11.4 % of disease in our cohort. Interestingly, although the spectrum of disease genes is quite similar between our Chinese patient cohort and other patient cohorts from different (and primarily Caucasian) ethnic backgrounds, the mutations themselves are dramatically different. In particular, 76 % (52/68) of alleles found in this study have never been previously reported. Interestingly, we observed a strong enrichment for severe protein truncating mutations expected to have severe functional consequence on the protein in USH II patients compared to the reported mutation spectrum in RP patients, who often carry partial protein truncating mutations. Our study provides the first

Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.

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Kang, Peter Choon Eng; Phuah, Sze Yee; Sivanandan, Kavitta; Kang, In Nee; Thirthagiri, Eswary; Liu, Jian Jun; Hassan, Norhashimah; Yoon, Sook-Yee; Thong, Meow Keong; Hui, Miao; Hartman, Mikael; Yip, Cheng Har; Mohd Taib, Nur Aishah; Teo, Soo Hwang

2014-04-01

Although the breast cancer predisposition genes BRCA1 and BRCA2 were discovered more than 20 years ago, there remains a gap in the availability of genetic counselling and genetic testing in Asian countries because of cost, access and inaccurate reporting of family history of cancer. In order to improve access to testing, we developed a rapid test for recurrent mutations in our Asian populations. In this study, we designed a genotyping assay with 55 BRCA1 and 44 BRCA2 mutations previously identified in Asian studies, and validated this assay in 267 individuals who had previously been tested by full sequencing. We tested the prevalence of these mutations in additional breast cancer cases. Using this genotyping approach, we analysed recurrent mutations in 533 Malaysian breast cancer cases with Malays, 3 BRCA1 and 2 BRCA2 mutations in Chinese and 1 BRCA1 mutation in Indians account for 60, 24 and 20 % of carrier families, respectively. By contrast, haplotype analyses suggest that a recurrent BRCA2 mutation (c.262_263delCT) found in 5 unrelated Malay families has at least 3 distinct haplotypes. Taken together, our data suggests that panel testing may help to identify carriers, particularly Asian BRCA2 carriers, who do not present with a priori strong family history characteristics.

Patterns of life events preceding the suicide in rural young Chinese: a case control study.

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Zhang, Jie; Ma, Zhenyu

2012-10-01

Previous studies on the Chinese suicide found some life events prior to the suicide different from those in the West, but there is a lack of summary of the Chinese life event patterns to better understand the effects of the social structure on Chinese suicide. We tried to identify the life events that precede the Chinese rural youth suicides and compare them with what are found in the West, so as to find the patterns that are particularly true in the Chinese culture contexts. Suicide cases were investigated with a psychological autopsy study in rural China, and local community living controls were also interviewed with the same protocol. We collapsed 64 negative life events into six categories: (1) Marriage/Love, (2) Family/Home, (3) Work/Business, (4) Health/Hospital, (5) Law/Legal, (6) Friend/Relationship. About 92.3% of the suicides studied had experienced at least one type of negative life events. The three most common negative life events categories in the past one year were Family/Home (60.7%), Health/Hospital (53.8%) and Marriage/Love (51.3%) in the rural young suicide victims. Among the negative life events, those related to family relations, love affairs, and marital issues were most likely to precede a suicide of rural suicides in China, and it is especially true of rural young women. Family is an important social institution in rural China for suicide prevention efforts. Copyright © 2012 Elsevier B.V. All rights reserved.

Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.

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Jiang, Lu; Chen, Hongsheng; Jiang, Wen; Hu, Zhengmao; Mei, Lingyun; Xue, Jingjie; He, Chufeng; Liu, Yalan; Xia, Kun; Feng, Yong

2011-05-20

We analyzed the clinical features and family-related gene mutations for the first two Chinese cases of type IV Waardenburg syndrome (WS4). Two families were analyzed in this study. The analysis included a medical history, clinical analysis, a hearing test and a physical examination. In addition, the EDNRB, EDN3 and SOX10 genes were sequenced in order to identify the pathogenic mutation responsible for the WS4 observed in these patients. The two WS4 cases presented with high phenotypic variability. Two novel heterozygous mutations (c.254G>A and c.698-2A>T) in the SOX10 gene were detected. The mutations identified in the patients were not found in unaffected family members or in 200 unrelated control subjects. This is the first report of WS4 in Chinese patients. In addition, two novel mutations in SOX10 gene have been identified. Crown Copyright © 2011. Published by Elsevier Inc. All rights reserved.

Psychometric evaluation of the Chinese version of the Subjective Happiness Scale: evidence from the Hong Kong FAMILY Cohort.

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Nan, Hairong; Ni, Michael Y; Lee, Paul H; Tam, Wilson W S; Lam, Tai Hing; Leung, Gabriel M; McDowell, Ian

2014-08-01

With China's rapid economic growth in the past few decades, there is currently an emerging focus on happiness. Cross-cultural validity studies have indicated that the four-item Subjective Happiness Scale (SHS) has high internal consistency and stable reliability. However, the psychometric characteristics of the SHS in broader Chinese community samples are unknown. We evaluated the factor structure and psychometric properties of the SHS in the Hong Kong general population. The Chinese SHS was derived using forward-backward translation. Of the Cantonese-speaking participants aged ≥15 years, 2,635 were randomly selected from the random sample component of the FAMILY Cohort, a territory-wide cohort study in Hong Kong. In addition to the SHS, a single-item overall happiness scale, the Patient Health Questionnaire-9 (PHQ-9), the Family Adaptation, Partnership, Growth, Affection, Resolve (APGAR) scale, and the Medical Outcomes Study 12-item short-form version 2 (SF-12) mental and physical health scales were administered. Exploratory and confirmatory factor analyses supported a single factor with high loadings for the four SHS items. Multiple group analyses indicated factor invariance across sex and age groups. Cronbach's alpha was 0.82, and 2-week test-retest reliability (n = 191) was 0.70. The SHS correlated significantly with single-item overall happiness (Spearman's rho [ρ] = 0.57), Family APGAR (ρ = 0.26), PHQ-9 (ρ = -0.34), and mental health-related quality of life (ρ = 0.40) but showed a lower correlation with physical health (ρ = 0.15). A regression model that included the PHQ-9 and Family APGAR scores explained 37% of the variance in SF-12 mental health scores; adding the SHS raised the variance explained to 41 %. Our results support the reliability and validity of the SHS as a relevant component in the measurement battery for mental well-being in a Chinese general population.

Families and family therapy in Hong Kong.

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Tse, Samson; Ng, Roger M K; Tonsing, Kareen N; Ran, Maosheng

2012-04-01

Family therapy views humans not as separate entities, but as embedded in a network of relationships, highlighting the reciprocal influences of one's behaviours on one another. This article gives an overview of family demographics and the implementation of family therapy in Hong Kong. We start with a review of the family demographics in Hong Kong and brief notes on families in mainland China. Demographics show that the landscape has changed markedly in the past decade, with more cross-border marriages, an increased divorce rate, and an ageing overall population - all of which could mean that there is increasing demand for professional family therapy interventions. However, only a limited number of professionals are practising the systems-based approach in Hong Kong. Some possible reasons as to why family therapy is not well disseminated and practised are discussed. These reasons include a lack of mental health policy to support family therapy, a lack of systematic family therapy training, and a shortage of skilled professionals. Furthermore, challenges in applying the western model in Chinese culture are also outlined. We conclude that more future research is warranted to investigate how family therapy can be adapted for Chinese families.

The influence of ethnicity and culture on dementia caregiving: a review of empirical studies on Chinese Americans.

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Sun, Fei; Ong, Rebecca; Burnette, Denise

2012-02-01

The purpose of this article is to pinpoint the cultural and ethnic influences on dementia caregiving in Chinese American families through a systemic review and analysis of published research findings. Eighteen publications on Chinese American dementia family caregivers published in peer-reviewed journals between 1990 and early 2011 were identified. Based on a systematic database search and review process, we found that caregivers' beliefs concerning dementia and the concept of family harmony as evidenced through the practice of filial piety are permeating cultural values, which together affect attitudes toward research and help-seeking behaviors (ie, seeking information on diagnosis and using formal services). There is also evidence to suggest that these cultural beliefs impinge on key elements of the caregiving process, including caregivers' appraisal of stress, coping strategies, and informal and formal support. The study concludes with recommendations for future research and practice with the Chinese American population.

Familial isolated primary hyperparathyroidism/hyperparathyroidism-jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese.

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Kong, Jing; Wang, Ou; Nie, Min; Shi, Jie; Hu, Yingying; Jiang, Yan; Li, Mei; Xia, Weibo; Meng, Xunwu; Xing, Xiaoping

2014-08-01

Hyperparathyroidism-jaw tumour syndrome (HPT-JT) and familial isolated primary hyperparathyroidism (FIHP) are two subtypes of familial primary hyperparathyroidism, which are rarely reported in Chinese population. Here, we reported three FIHP families and one HPT-JT family with long-term follow-up and genetic analysis. A total of 22 patients, from four FIHP/HPT-JT families of Chinese descent, were recruited and genomic DNA was extracted from their peripheral blood lymphocytes. Direct sequencing for MEN1, CDC73, CASR gene was conducted. Reverse transcription PCR (RT-PCR) and quantitative real-time PCR (qRT-PCR) were used to study the effect of splice site mutations and gross deletion mutations. Immunohistochemistry was performed to analyse parafibromin expression in parathyroid tumours. Genotype-phenotype correlations were assessed through clinical characteristics and long-term follow-up data. Genetic analysis revealed four CDC73 germline mutations that were responsible for the four kindreds, including two novel point mutation (c.157 G>T and IVS3+1 G>A), one recurrent point mutation (c.664 C>T) and one deletion mutation (c.307+?_513-?del exons 4, 5, 6). RT-PCR confirmed that IVS3+1 G>A generated an aberrant transcript with exon3 deletion. Immunohistochemical analysis demonstrated reduced nuclear parafibromin expression in tumours supporting the pathogenic effects of these mutations. This study supplies information on mutations and phenotypes of HPT-JT/FIHP syndrome in Chinese. Screening for gross deletion and point mutations of the CDC73 gene is necessary in susceptible subjects. © 2014 John Wiley & Sons Ltd.

The application of digital image plane holography technology to identify Chinese herbal medicine

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Wang, Huaying; Guo, Zhongjia; Liao, Wei; Zhang, Zhihui

2012-03-01

In this paper, the imaging technology of digital image plane holography to identify the Chinese herbal medicine is studied. The optical experiment system of digital image plane holography which is the special case of pre-magnification digital holography was built. In the record system, one is an object light by using plane waves which illuminates the object, and the other one is recording hologram by using spherical light wave as reference light. There is a Micro objective lens behind the object. The second phase factor which caus ed by the Micro objective lens can be eliminated by choosing the proper position of the reference point source when digital image plane holography is recorded by spherical light. In this experiment, we use the Lygodium cells and Onion cells as the object. The experiment results with Lygodium cells and Onion cells show that digital image plane holography avoid the process of finding recording distance by using auto-focusing approach, and the phase information of the object can be reconstructed more accurately. The digital image plane holography is applied to the microscopic imaging of cells more effectively, and it is suit to apply for the identify of Chinese Herbal Medicine. And it promotes the application of digital holographic in practice.

Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12.

OpenAIRE

Lin, S H; Sourial, N A; Lu, K C; Hsueh, E J

1994-01-01

Two brothers in a Chinese family with selective malabsorption of vitamin B12 associated with proteinuria (Imerslund-Grasbeck syndrome) presented with widespread mottled skin pigmentation, termed poikiloderma. In contrast to anaemia, this pigmentary disturbance remained unresponsive to vitamin B12 replacement. This is different from the reported hyperpigmentation sometimes seen in vitamin B12 deficiency which is reversible following treatment. As far as is known, an irreversible and persistent...

Patterns of Life Events Preceding the Suicide in Rural Young Chinese: A Case Control Study1

Science.gov (United States)

Zhang, Jie; Ma, Zhenyu

2012-01-01

Background Previous studies on the Chinese suicide found some life events prior to the suicide different from those in the West, but there is a lack of summary of the Chinese life event patterns to better understand the effects of the social structure on Chinese suicide. Aim We tried to identify the life events that precede the Chinese rural youth suicides and compare them with what found in the West, so as to find the patterns that are particularly true in the Chinese culture contexts. Methods Suicide cases were investigated with a psychological autopsy study in rural China, and local community living controls were also interviewed with the same protocol. Results We collapsed 64 negative life events into six categories: (1) Marriage/Love, (2) Family/Home, (3) Work/Business, (4) Health/Hospital, (5) Law/Legal, (6) Friend/Relationship. About 92.3% of the suicides studied had experienced at least one type of negative life events. The three most common negative life events categories in the past one year were Family/Home (60.7%), Health/Hospital (53.8%) and Marriage/Love (51.3%) in the rural young suicide victims. Conclusions Among the negative life events, those related to family relations, love affairs, and marital issues were most likely to precede a suicide of rural suicides in China, and it is especially true of rural young women. Family is an important social institution in rural China for suicide prevention efforts. PMID:22595373

Duration of Untreated Psychosis in Chinese and Mauritian: Impact of Clinical Characteristics and Patients' and Families' Perspectives on Psychosis.

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Jaya Prishni Devi Thakoor

Full Text Available Duration of untreated psychosis (DUP is a potentially modifiable prognostic factor of course and prognosis of psychiatric disorders. Few studies have demonstrated that different cultural backgrounds or perspectives on psychosis may be important factors to the DUP. This study attempted to explore whether the DUP was different in Chinese and Mauritians and to clarify potential influencing factors to a long DUP (>3 months.200 patients from China and 100 patients from Mauritius were enrolled in the study. Their respective family members were also recruited. Demographic and clinical characteristics were collected, and the Internalized Stigma of Mental Illness (ISMI scale was adapted to measure the stigma in all subjects. Binary logistic regression analysis was used to find the potential influencing factors to the long DUP.35.3% of the enrolled patients had a long DUP. No significant difference was found in frequency of long DUP between the two countries. Chinese patients had relatively less perceptions of stigma. Furthermore, Chinese patients with a long DUP had more perception of breakup due to mental illness (OR = 2.22, p = 0.04 and more families' perception of the patient being disinherited due to mental illness (OR = 6.47, p = 0.01. Mauritian patients with a long DUP were less likely to have high monthly income (OR = 0.12, p<0.01, while they had less patients' awareness of mental illness (OR = 0.31, p<0.05 and less families' awareness of mental illness (OR = 0.14, p<0.01.The results of this study underlined the importance of DUP in economic conditions, racial and sociocultural factors, and public awareness on psychosis in developing countries.

Health-Related Quality of Life in the Family Caregivers of Stroke Survivors

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Chen, Yangkun

2010-01-01

The objective of this cross-sectional study was to identify the factors associated with health-related quality of life (HRQOL) of family caregivers of Chinese stroke patients. One hundred and twenty-three stroke patients consecutively admitted to a stroke clinic and their 123 family caregivers were recruited. The caregivers' HRQOLs were assessed…

PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood.

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Lee, Peilin; Su, Yi-Ning; Yu, Chong-Jen; Yang, Pan-Chyr; Wu, Huey-Dong

2009-02-01

Congenital central hypoventilation syndrome (CCHS) is characterized by compromised chemoreflexes resulting in sleep hypoventilation. We report a Chinese family with paired-like homeobox 2B (PHOX2B) mutation-confirmed CCHS, with a clinical spectrum from newborn to adulthood, to increase awareness of its various manifestations. After identifying central hypoventilation in an adult man (index case), clinical evaluation was performed on the complete family, which consisted of the parents, five siblings, and five offspring. Pulmonary function tests, overnight polysomnography, arterial blood gas measurements, hypercapnia ventilatory response, and PHOX2B gene mutation screening were performed on living family members. Brain MRI, 24-h Holter monitoring, and echocardiography were performed on members with clinically diagnosed central hypoventilation. The index patient and four offspring manifested clinical features of central hypoventilation. The index patients had hypoxia and hypercapnia while awake, polycythemia, and hematocrit levels of 70%. The first and fourth children had frequent cyanotic spells, and both died of respiratory failure. The second and third children remained asymptomatic until adulthood, when they experienced impaired hypercapnic ventilatory response. The third child had nocturnal hypoventilation with nadir pulse oximetric saturation of 59%. Adult-onset CCHS with PHOX2B gene mutation of the + 5 alanine expansions were confirmed in the index patient and the second and third children. The index patient and the third child received ventilator support system bilevel positive airway pressure treatment, which improved the hypoxemia, hypercapnia, and polycythemia without altering their chemosensitivity. Transmission of late-onset CCHS is autosomal-dominant. Genetic screening of family members of CCHS probands allows for early diagnosis and treatment.

Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family

OpenAIRE

Zhai, Wei; Jin, Xin; Gong, Yan; Qu, Ling-Hui; Zhao, Chen; Li, Zhao-Hui

2015-01-01

AIM:To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2).METHODS:The ophthalmic examinations and audiometric tests were performed to ascertain the phenotype of the family. To detect the genetic defect, exons of 103 known RDs -associated genes including 12 Usher syndrome (USH) genes of the proband were captured and sequencing analysis was performed to exclude known genetic defects and find potential pathogenic mutations. Subsequently, candidate...

Family Function and Self-esteem among Chinese University Students with and without Grandparenting Experience: Moderating Effect of Social Support

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Jingyu Shi

2017-05-01

Full Text Available This study examines the association between family function and self-esteem of Chinese university students with grandparenting experience, and explores the moderating effects of social support in this link. Two thousand five hundred thirty university students (1372 males and 1158 females from a Chinese university completed the Perceived Social Support Scale, the Rosenberg’s Self-esteem Scale, and the Family Assessment Device (FAD. Six hundred and forty-five (25.69% students reported grandparenting experience and they reported lower scores on self-esteem and social support than the students raised only by their parents. The grandparenting group scored higher on such dimensions of family functioning as Communication, Role, Affective Involvement, Affective Responsiveness, and General Family Function (GF than their counterpart group. For both groups, self-esteem scores were positively correlated with social support scores, while negatively correlated with FAD all sub-scale scores. Hierarchical regression analysis showed that for the students with grandparenting experience the social support moderated the relationship between GF and self-esteem. When students reported a high level of social support, those with low GF score reported higher scores in self-esteem than those with low self-esteem. However, in case of low social support, there were no differences in self-esteem between groups with high and low GF scores. These findings suggest that social support plays a positive role to relieve the adverse impact of poor family function on self-esteem of the adolescents with grandparenting experience. In addition, the significance and limitations of the results will be discussed.

Family Function and Self-esteem among Chinese University Students with and without Grandparenting Experience: Moderating Effect of Social Support.

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Shi, Jingyu; Wang, Lu; Yao, Yuhong; Su, Na; Zhao, Xudong; Zhan, Chenyu

2017-01-01

This study examines the association between family function and self-esteem of Chinese university students with grandparenting experience, and explores the moderating effects of social support in this link. Two thousand five hundred thirty university students (1372 males and 1158 females) from a Chinese university completed the Perceived Social Support Scale, the Rosenberg's Self-esteem Scale, and the Family Assessment Device (FAD). Six hundred and forty-five (25.69%) students reported grandparenting experience and they reported lower scores on self-esteem and social support than the students raised only by their parents. The grandparenting group scored higher on such dimensions of family functioning as Communication, Role, Affective Involvement, Affective Responsiveness, and General Family Function (GF) than their counterpart group. For both groups, self-esteem scores were positively correlated with social support scores, while negatively correlated with FAD all sub-scale scores. Hierarchical regression analysis showed that for the students with grandparenting experience the social support moderated the relationship between GF and self-esteem. When students reported a high level of social support, those with low GF score reported higher scores in self-esteem than those with low self-esteem. However, in case of low social support, there were no differences in self-esteem between groups with high and low GF scores. These findings suggest that social support plays a positive role to relieve the adverse impact of poor family function on self-esteem of the adolescents with grandparenting experience. In addition, the significance and limitations of the results will be discussed.

Family Function and Self-esteem among Chinese University Students with and without Grandparenting Experience: Moderating Effect of Social Support

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Shi, Jingyu; Wang, Lu; Yao, Yuhong; Su, Na; Zhao, Xudong; Zhan, Chenyu

2017-01-01

This study examines the association between family function and self-esteem of Chinese university students with grandparenting experience, and explores the moderating effects of social support in this link. Two thousand five hundred thirty university students (1372 males and 1158 females) from a Chinese university completed the Perceived Social Support Scale, the Rosenberg’s Self-esteem Scale, and the Family Assessment Device (FAD). Six hundred and forty-five (25.69%) students reported grandparenting experience and they reported lower scores on self-esteem and social support than the students raised only by their parents. The grandparenting group scored higher on such dimensions of family functioning as Communication, Role, Affective Involvement, Affective Responsiveness, and General Family Function (GF) than their counterpart group. For both groups, self-esteem scores were positively correlated with social support scores, while negatively correlated with FAD all sub-scale scores. Hierarchical regression analysis showed that for the students with grandparenting experience the social support moderated the relationship between GF and self-esteem. When students reported a high level of social support, those with low GF score reported higher scores in self-esteem than those with low self-esteem. However, in case of low social support, there were no differences in self-esteem between groups with high and low GF scores. These findings suggest that social support plays a positive role to relieve the adverse impact of poor family function on self-esteem of the adolescents with grandparenting experience. In addition, the significance and limitations of the results will be discussed. PMID:28611720

A Family-Based Association Study of CYP11A1 and CYP11B1 Gene Polymorphisms With Autism in Chinese Trios.

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Deng, Hong-Zhu; You, Cong; Xing, Yu; Chen, Kai-Yun; Zou, Xiao-Bing

2016-05-01

Autism spectrum disorder is a group of neurodevelopmental disorders with the higher prevalence in males. Our previous studies have indicated lower progesterone levels in the children with autism spectrum disorder, suggesting involvement of the cytochrome P-450scc gene (CYP11A1) and cytochrome P-45011beta gene (CYP11B1) as candidate genes in autism spectrum disorder. The aim of this study was to investigate the family-based genetic association between single-nucleotide polymorphisms, rs2279357 in the CYP11A1 gene and rs4534 and rs4541 in the CYP11B1 gene and autism spectrum disorder in Chinese children, which were selected according to the location in the coding region and 5' and 3' regions and minor allele frequencies of greater than 0.05 in the Chinese populations. The transmission disequilibrium test and case-control association analyses were performed in 100 Chinese Han autism spectrum disorder family trios. The genotype and allele frequency of the 3 single-nucleotide polymorphisms had no statistical difference between the children with autism spectrum disorder and their parents (P> .05). Transmission disequilibrium test analysis showed transmission disequilibrium of CYP11A1 gene rs2279357 single-nucleotide polymorphisms (χ(2)= 5.038,Pautism spectrum disorder exists within or near the CYP11A1 gene in the Han Chinese population. © The Author(s) 2015.

Templates of "Chineseness" and Trajectories of Cambodian Chinese Entrepreneurship in Phnom Penh

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Michiel Verver

2012-09-01

Full Text Available In the 1960s, William Willmott described Cambodia as a plural society in which different ethnic groups occupy different places in the economic structure. The Chinese made up the economic class, active in trade and commerce, and formed a definable ethnic community, both socioculturally and politically. Since Willmott’s seminal studies, Cambodia’s ethnic Chinese have endured the destruction and repression of both private enterprise and Chinese sociocultural life (1970–1990, followed by a revitalization of Chinese business. Through ethnographic case studies, this paper explores the relationship between “Chineseness” and business life in trajectories of Cambodian Chinese entrepreneurship in Phnom Penh. How do entrepreneurs deploy notions of Chinese business? The author argues that Chinese family businesses, trust-based networks, patronage arrangements, and cultural representations have indeed been greatly revitalized over the last few decades, but that they also remain challenged in certain contexts. Moreover, such revitalization has taken a fundamentally different form from Willmott’s description. Practices of Chinese business can no longer be ascribed to an ethnic Chinese “community” in Phnom Penh. Rather, as the latter has become increasingly multiform, Chinese business has developed into a template at the deployment (or neglect of a broader category of Cambodian Chinese entrepreneurs.

Defining Tiger Parenting in Chinese Americans.

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Kim, Su Yeong

2013-09-01

"Tiger" parenting, as described by Amy Chua [2011], has instigated scholarly discourse on this phenomenon and its possible effects on families. Our eight-year longitudinal study, published in the Asian American Journal of Psychology [Kim, Wang, Orozco-Lapray, Shen, & Murtuza, 2013b], demonstrates that tiger parenting is not a common parenting profile in a sample of 444 Chinese American families. Tiger parenting also does not relate to superior academic performance in children. In fact, the best developmental outcomes were found among children of supportive parents. We examine the complexities around defining tiger parenting by reviewing classical literature on parenting styles and scholarship on Asian American parenting, along with Amy Chua's own description of her parenting method, to develop, define, and categorize variability in parenting in a sample of Chinese American families. We also provide evidence that supportive parenting is important for the optimal development of Chinese American adolescents.

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

International Nuclear Information System (INIS)

Wang Huawei; Jia Xiaoyun; Ji Yanli; Kong Qingpeng; Zhang Qingjiong; Yao Yonggang; Zhang Yaping

2008-01-01

The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that cosegregated with G11778A in these two pedigrees. Our results suggest that the variable penetrance of LHON in the two Chinese families is independent of both their mtDNA haplotype background and a secondary mutation G13708A. As a result, it is likely that unknown nuclear gene involvement and/or other factors contribute to the strikingly different penetrance of LHON

The Anatomy of the Role of Morphological Awareness in Chinese Character Learning: The Mediation of Vocabulary and Semantic Radical Knowledge and the Moderation of Morpheme Family Size

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Liu, Duo; Li, Hong; Wong, Kwok Shing Richard

2017-01-01

In the present study, the mediating roles of syllable awareness, orthographic knowledge, and vocabulary skills and the moderating role of morpheme family size in the association between morphological awareness and Chinese character reading were investigated with 176 second-grade Hong Kong Chinese children. In the path analyses, the results…

A Social Network Family-Focused Intervention to Promote Smoking Cessation in Chinese and Vietnamese American Male Smokers: A Feasibility Study.

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Tsoh, Janice Y; Burke, Nancy J; Gildengorin, Ginny; Wong, Ching; Le, Khanh; Nguyen, Anthony; Chan, Joanne L; Sun, Angela; McPhee, Stephen J; Nguyen, Tung T

2015-08-01

Smoking prevalence is high among limited English-proficient Chinese and Vietnamese American men, who are frequently unmotivated to quit and who underutilize smoking cessation resources. This study applied lay health worker outreach to leverage peer and family networks to promote smoking cessation among these men. We integrated qualitative formative research findings and Social Network Theory to develop a social-network family-focused intervention. In a pilot single-group trial, 15 lay health workers recruited 96 dyads (N = 192, 75% Vietnamese) of Chinese or Vietnamese male daily smokers and their family members and delivered the intervention consisting of two small group education sessions and two individual telephone calls over 2 months. At baseline, 42% of smokers were at precontemplation. At 3 months following the initiation of the intervention, 7-day and 30-day point prevalence smoking abstinence rates as reported by smokers and independently corroborated by family members were 30% and 24%, respectively. Utilization of smoking cessation resources (medication, quitline, physician's advice) increased from 2% to 60% (P Vietnamese smokers appears to be acceptable, feasible, and potentially efficacious. Findings warrant evaluation of long-term efficacy of the intervention in a larger scale randomized controlled trial. © The Author 2015. Published by Oxford University Press on behalf of the Society for Research on Nicotine and Tobacco. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer.

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Kallenberg, F G J; Aalfs, C M; The, F O; Wientjes, C A; Depla, A C; Mundt, M W; Bossuyt, P M M; Dekker, E

2017-09-21

Identifying a hereditary colorectal cancer (CRC) syndrome or familial CRC (FCC) in a CRC patient may enable the patient and relatives to enroll in surveillance protocols. As these individuals are insufficiently recognized, we evaluated an online family history tool, consisting of a patient-administered family history questionnaire and an automated genetic referral recommendation, to facilitate the identification of patients with hereditary CRC or FCC. Between 2015 and 2016, all newly diagnosed CRC patients in five Dutch outpatient clinics, were included in a trial with a stepped-wedge design, when first visiting the clinic. Each hospital continued standard procedures for identifying patients at risk (control strategy) and then, after a predetermined period, switched to offering the family history tool to included patients (intervention strategy). After considering the tool-based recommendation, the health care provider could decide on and arrange the referral. Primary outcome was the relative number of CRC patients who received screening or surveillance recommendations for themselves or relatives because of hereditary CRC or FCC, provided by genetic counseling. The intervention effect was evaluated using a logit-linear model. With the tool, 46/489 (9.4%) patients received a screening or surveillance recommendation, compared to 35/292 (12.0%) in the control group. In the intention-to-treat-analysis, accounting for time trends and hospital effects, this difference was not statistically significant (p = 0.58). A family history tool does not necessarily assist in increasing the number of CRC patients and relatives enrolled in screening or surveillance recommendations for hereditary CRC or FCC. Other interventions should be considered.

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

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Zhao, Z.; Hashiguchi, A.; Sakiyama, Y.; Okamoto, Y.; Tokunaga, S.; Zhu, L.; Shen, H.; Takashima, H.

2012-01-01

Objective: To identify a new genetic cause of distal hereditary motor neuropathy (dHMN), which is also known as a variant of Charcot-Marie-Tooth disease (CMT), in a Chinese family. Methods: We investigated a Chinese family with dHMN clinically, electrophysiologically, and genetically. We screened for the mutations of 28 CMT or related pathogenic genes using an originally designed microarray resequencing DNA chip. Results: Investigation of the family history revealed an autosomal dominant transmission pattern. The clinical features of the family included mild weakness and wasting of the distal muscles of the lower limb and foot deformity, without clinical sensory involvement. Electrophysiologic studies revealed motor neuropathy. MRI of the lower limbs showed accentuated fatty infiltration of the gastrocnemius and vastus lateralis muscles. All 4 affected family members had a heterozygous missense mutation c.2677G>A (p.D893N) of alanyl-tRNA synthetase (AARS), which was not found in the 4 unaffected members and control subjects. Conclusion: An AARS mutation caused dHMN in a Chinese family. AARS mutations result in not only a CMT phenotype but also a dHMN phenotype. PMID:22573628

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family

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Chen, Dezhong; Zhao, Na; Wang, Jing; Li, Zhuoyu; Wu, Changxin; Fu, Jie; Xiao, Han

2017-01-01

Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to be disease causing by in silico analysis. This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and in silico functional prediction methods. PMID:28690861

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

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Chen, Dezhong; Zhao, Na; Wang, Jing; Li, Zhuoyu; Wu, Changxin; Fu, Jie; Xiao, Han

2017-01-01

Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to be disease causing by in silico analysis. This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and in silico functional prediction methods.

Distribution of Chinese names

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Huang, Ding-wei

2013-03-01

We present a statistical model for the distribution of Chinese names. Both family names and given names are studied on the same basis. With naive expectation, the distribution of family names can be very different from that of given names. One is affected mostly by genealogy, while the other can be dominated by cultural effects. However, we find that both distributions can be well described by the same model. Various scaling behaviors can be understood as a result of stochastic processes. The exponents of different power-law distributions are controlled by a single parameter. We also comment on the significance of full-name repetition in Chinese population.

Association between SNP and haplotypes in PPARGCl and adiponectin genes and bone mineral density in Chinese nuclear families

Institute of Scientific and Technical Information of China (English)

Zhen-lin ZHANG; Jin-wei HE; Yue-juan QIN; Yun-qiu HU; Miao LI; Yu-juan LIU; Hao ZHANG; Wei-wei HU

2007-01-01

Aim: To assess the contribution of single nucleotide polymorphisms (SNP) and haplotypes in the peroxisome proliferator-activated receptor-γ co-activator-1(PPARGC1) and adiponectin genes to normal bone mineral density (BMD) variation in healthy Chinese women and men. Methods: We performed population-based (ANOVA) and family-based (quantitative trait locus transmission disequi-librium test) association studies of PPARGC1 and adiponectin genes. SNP in the 2 genes were genotyped. BMD was measured using dual-energy X-ray absorptiometry in the lumbar spine and hip in 401 nuclear families with a total of1260 subjects, including 458 premenopausal women, 20-40 years of age; 401 post-menopausal women (mothers), 43-74 years of age; and 401 men (fathers), 49-76years of age. Results: Significant within-family association was found between the Thr394Thr polymorphism in the PPGAGC1 gene and peak BMD in the femoral neck (P=0.026). Subsequent permutations were in agreement with this significant within-family association result (P=0.016), but Thr394Thr SNP only accounted for0.7% of the variation in femoral neck peak BMD. However, no significant within-family association was detected between each SNP in the adiponect in gene and peak BMD. Although no significant association was found between BMD and SNP in the PPARGC1 and adiponectin genes in both men and postmenopausal women, haplotype 2 (T-T) in the adiponect in gene was associated with lumbar spine BMD in postmenopausal women (P=0.019). Conclusion: Our findings sug-gest that Thr394Thr SNP in the PPARGC1 gene was associated with peak BMD in the femoral neck in Chinese women. Confirmation of our results is needed in other populations and with more functional markers within and flanking the PPARGC1 or adiponectin genes region.

Marital Construction of Family Power among Male-out-Migrant Couples in a Chinese Village: A Relation-Oriented Exchange Model

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Zuo, Jiping

2008-01-01

This study examines marital construction of family power among male-out-migrant couples in a Chinese village in Guangxi Province. In-depth interviews show that male-out-migrant couples prefer joint decision making. When couples are in disputes, power tends to go to the ones who shoulder greater household-based responsibilities; in this case, they…

Work-Family Conflict, Perceived Organizational Support and Professional Commitment: A Mediation Mechanism for Chinese Project Professionals.

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Zheng, Junwei; Wu, Guangdong

2018-02-15

Projects are characterized by long working hours, complex tasks and being a kind of temporary organization. As such, work-family conflict is particularly prominent for project employees. This research examined whether and how work-family conflict affects professional commitment among Chinese project professionals. Research hypotheses were developed to explore the relationship between work-family conflict, professional commitment to the project and the mediating effects of perceived organizational support. Data were collected from 327 project managers or professionals working in construction enterprises in China; data were analyzed using structural equation modeling, applying the bootstrapping method. Results showed that there were three dimensions of work-family conflict: time-based conflict, strain-based conflict and behavior-based conflict. There were two dimensions of perceived organizational support: emotional support and instrumental support. The study also tested the negative effect of work-family conflict on professional commitment and the positive effect of perceived organizational support on professional commitment. Specifically, time-based conflict and emotional support had positive effects on professional commitment. Perceived organizational support had a total mediating effect between work-family conflict and professional commitment. The strain-based conflict dimension of work-family conflict had negative impacts on professional commitment through perceived emotional support and instrumental support. Overall, our findings extend a better understanding of work-family conflict and professional commitment in the project setting and verify the importance of social support in balancing work and family and improving employee mobility.

Work-Family Conflict, Perceived Organizational Support and Professional Commitment: A Mediation Mechanism for Chinese Project Professionals

Science.gov (United States)

2018-01-01

Projects are characterized by long working hours, complex tasks and being a kind of temporary organization. As such, work-family conflict is particularly prominent for project employees. This research examined whether and how work-family conflict affects professional commitment among Chinese project professionals. Research hypotheses were developed to explore the relationship between work-family conflict, professional commitment to the project and the mediating effects of perceived organizational support. Data were collected from 327 project managers or professionals working in construction enterprises in China; data were analyzed using structural equation modeling, applying the bootstrapping method. Results showed that there were three dimensions of work-family conflict: time-based conflict, strain-based conflict and behavior-based conflict. There were two dimensions of perceived organizational support: emotional support and instrumental support. The study also tested the negative effect of work-family conflict on professional commitment and the positive effect of perceived organizational support on professional commitment. Specifically, time-based conflict and emotional support had positive effects on professional commitment. Perceived organizational support had a total mediating effect between work-family conflict and professional commitment. The strain-based conflict dimension of work-family conflict had negative impacts on professional commitment through perceived emotional support and instrumental support. Overall, our findings extend a better understanding of work-family conflict and professional commitment in the project setting and verify the importance of social support in balancing work and family and improving employee mobility. PMID:29462860

Work-Family Conflict, Perceived Organizational Support and Professional Commitment: A Mediation Mechanism for Chinese Project Professionals

Directory of Open Access Journals (Sweden)

Junwei Zheng

2018-02-01

Full Text Available Projects are characterized by long working hours, complex tasks and being a kind of temporary organization. As such, work-family conflict is particularly prominent for project employees. This research examined whether and how work-family conflict affects professional commitment among Chinese project professionals. Research hypotheses were developed to explore the relationship between work-family conflict, professional commitment to the project and the mediating effects of perceived organizational support. Data were collected from 327 project managers or professionals working in construction enterprises in China; data were analyzed using structural equation modeling, applying the bootstrapping method. Results showed that there were three dimensions of work-family conflict: time-based conflict, strain-based conflict and behavior-based conflict. There were two dimensions of perceived organizational support: emotional support and instrumental support. The study also tested the negative effect of work-family conflict on professional commitment and the positive effect of perceived organizational support on professional commitment. Specifically, time-based conflict and emotional support had positive effects on professional commitment. Perceived organizational support had a total mediating effect between work-family conflict and professional commitment. The strain-based conflict dimension of work-family conflict had negative impacts on professional commitment through perceived emotional support and instrumental support. Overall, our findings extend a better understanding of work-family conflict and professional commitment in the project setting and verify the importance of social support in balancing work and family and improving employee mobility.

Family influences on physical activity and sedentary behaviours in Chinese junior high school students: a cross-sectional study.

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Wang, Xin; Liu, Qing-Min; Ren, Yan-Jun; Lv, Jun; Li, Li-Ming

2015-03-25

Family influence plays an important role in a child's physical activity (PA). This study aimed to describe the level of moderate to vigorous intensity physical activity (MVPA) and sedentary behaviours among Chinese junior high school students and examine the associations between different types of family influence and MVPA or sedentary behaviours. Participants of two independent cross-sectional surveys, conducted in 2009 and 2011, were students in Grade 7 and 9 from all junior high schools in Hangzhou, China. The daily duration and frequency of MVPA, amount of sedentary time and frequency of family support were self-reported. Multi-level mixed-effects logistic regression was used to examine the associations between different types or levels of family influence and MVPA or sedentary behaviours. A total of 7286 students were analysed finally. Overall, only 9.0% of the students participated in MVPA at least 60 minutes/day; 63.9% spent no more than 2 hours/day in sedentary behaviours. Frequent verbal encouragement and watching were associated with less leisure-time sedentary behaviours. The multivariate-adjusted odds ratios (ORs) for verbal encouragement and watching were 1.29 (95% CI, 1.08 to 1.55) and 1.19 (95% CI, 0.97 to 1.45) for 5-7 days per week. The involvement of family in the children's activity in most days of the week was associated with both higher level of MVPA and less leisure-time sedentary behaviours. The respective ORs among students who reported familial support 5-7 days per week, were 1.50 (95% CI, 1.21 to 1.86) for engaging in seven days of MVPA per week, 1.67 (95% CI, 1.19 to 2.32) for at least 60 minutes of MVPA daily, and 1.48 (95% CI, 1.19 to 1.84) for no more than 2 hours of leisure-time sedentary behaviours daily. This study found that less than 10.0% of urban Chinese adolescents engaged in MVPA at least 60 minutes/day. Family involving themselves in the children's activity exerted the most significant influence on children's behaviours

Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

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Zha, Yang; Chen, Xing-ming; Lam, Ching-wan; Lee, Soo-chin; Tong, Sui-fan; Gao, Zhi-qiang

2011-08-01

Three Chinese patients with head and neck paragangliomas have been reported to carry the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene. In addition, in our hospital, two further patients were identified who have the same mutation. It is unclear whether the c.3G>C mutation in Chinese patients is a recurrent mutation or if it is due to a founder effect. We conducted haplotype analysis on these patients to answer this question. Individual case-control study. Germ-line mutations were confirmed in the patients and their families examined in this study using direct sequencing. We also constructed and analyzed haplotypes in four Chinese families. Genotype frequencies were compared to the control group. Three of four families shared the same haplotype, which rarely occurred in the control group. The last family shared a very short area on the physical map with the other three families. There is a founder effect in Chinese head and neck paraganglioma patients carrying the SDHD c.3G>C mutation. Copyright © 2011 The American Laryngological, Rhinological, and Otological Society, Inc.

Gambling related family coping and the impact of problem gambling on families in Hong Kong

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Elda Mei Lo Chan

2016-03-01

Full Text Available Abstract Despite substantial evidence that problem gambling is associated with a wide range of family difficulties, limited effort has been devoted to studying the negative impacts on family members as a result of problem gambling and how they cope and function under the impacts of problem gambling in Chinese communities. Among the very few Chinese-specific gambling-related family impact studies, none have examined how gambling-related family coping responses are related to gambling-related family impacts. Based on a sample of treatment-seeking Chinese family members of problem gamblers, this study aimed to explore: (1 the demographic characteristics and health and psychological well-being of the family members; (2 the gambling-related family member impacts (active disturbance, worrying behavior; (3 the family coping strategies (engaged, tolerant-inactive and withdrawal coping; (4 the relationship between gambling-related family member impacts, psychological distress and family coping strategies. It was hypothesized that positive significant relationships would be found between family member impacts, psychological distress and family coping strategies. From March 2011 to February 2012, a total of 103 family members of problem gamblers who sought help from Tung Wah Group of Hospitals Even Centre in Hong Kong were interviewed. Results showed that a majority of family members were partners or ex-partners of the gambler with low or no income. A large proportion of participants reported moderate to high psychological distress (72.6 %, poor to fair general health (60.2 %, and poor to neither good nor bad quality of life (61.1 %. Family member impacts were positively significantly correlated to all family coping strategies and psychological distress. Tolerant-inactive coping had the strongest relationships with family member impacts and psychological distress. Strong relationships between family member impacts and psychological distress were also

Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

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Yang, Shuzhi; Dai, Pu; Liu, Xin; Kang, Dongyang; Zhang, Xin; Yang, Weiyan; Zhou, Chengyong; Yang, Shiming; Yuan, Huijun

2013-01-01

Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the MITF gene of 20 Chinese WS2 patients from 14 families. A high level of clinical variability was identified. Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients. Five affected individuals (5/20, 25.0%) had numerous brown freckles on the face, trunk, and limb extremities. Mutation screening of the MITF gene identified five mutations: c.20A>G, c.332C>T, c.647_649delGAA, c.649A>G, and c.763C>T. The total mutational frequency of the MITF gene was 21.4% (3/14), which is significantly higher than the 15.0% observed in the fair-skinned WS2 population. Our results indicate that MITF mutations are relatively common among Chinese WS2 patients.

Coping as a Mediator Between Parental Attachment and Resilience: An Examination of Differential Effects Between Chinese Adolescents From Single Parent Families Versus Those From Intact Families.

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Guo, Xiamei

2018-01-01

The crude divorce rate has been increasing steadily for over a decade in China. Consequently, more and more children have to face the challenge of growing up in single parent families. The current study investigated the mediating effects of problem-oriented and emotion-oriented coping on the relationship between parental attachment and psychological resilience among a sample of Chinese adolescents from single parent families and intact families. Participants were 975 high school students (44.30% males; aged 15-19 years, M = 16.32 years, SD = 0.74), 871 from intact families and 104 from single parent families. Structural equation modeling showed that security in maternal attachment was positively associated with resilience through the indirect effect of reduced emotion-oriented coping among adolescents from single parent families. Among adolescents from intact families, security in maternal attachment was both directly associated with resilience and indirectly through enhanced problem-oriented and reduced emotion-oriented coping. Security in paternal attachment was associated with resilience both directly and indirectly through enhanced problem-oriented coping as well among those from intact families. Female adolescents exhibited significantly lower levels of resilience than male adolescents did regardless of the marital status of their parents. Limitations and suggestions for future research are discussed.

Corpora and Collocations in Chinese-English Dictionaries for Chinese Users

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Xia, Lixin

2015-01-01

The paper identifies the major problems of the Chinese-English dictionary in representing collocational information after an extensive survey of nine dictionaries popular among Chinese users. It is found that the Chinese-English dictionary only provides the collocation types of "v+n" and "v+n," but completely ignores those of…

Familial Idiopathic Cranial Neuropathy in a Chinese Family.

Science.gov (United States)

Zhang, Li; Liang, Jianfeng; Yu, Yanbing

Cranial neuropathy is usually idiopathic and familial cases are uncommon. We describe a family with 5 members with cranial neuropathy over 3 generations. All affected patients were women, indicating an X-linked dominant or an autosomal dominant mode of inheritance. Our cases and a review of the literature suggest that familial idiopathic cranial neuropathy is a rare condition which may be related to autosomal dominant vascular disorders (e.g. vascular tortuosity, sclerosis, elongation or extension), small posterior cranial fossas, anatomical variations of the posterior circulation, hypersensitivity of cranial nerves and other abnormalities. Moreover, microvascular decompression is the treatment of choice because vascular compression is the main factor in the pathogenesis. To the best of our knowledge, this is the first report of familial cranial neuropathy in China.

Relationship between Family Characteristics and Aggressive Behaviors of Children and Adolescents

Institute of Scientific and Technical Information of China (English)

YU Yizhen; SHI Junxia; HUANG Yan; WANG Jun

2006-01-01

In order to identify family factors obviously relevant to aggression, and offer a theoretical foundation for the prevention of aggression, 4010 students from primary and secondary schools in 5 different areas in Hubei province were surveyed. The Child Behavior Checklist "parents' form"(Chinese version) and the four scales of Family Environment Scale were used. A multiple logistic regression was used to identify risk factors of children's and adolescents' aggressive behavior. The results showed that maternal education, paternal occupation, family type, parental child-rearing attitude and patterns, students' interpersonal relationship were significantly associated with the children's and adolescents' aggression. The risk factors of aggression were parental child-rearing patterns, peer relationship, teacher-student relationship, and family conflicts.

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

Energy Technology Data Exchange (ETDEWEB)

Wang Huawei [Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223 (China)]|[Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming 650091 (China); Jia Xiaoyun; Ji Yanli [State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060 (China); Kong Qingpeng [State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223 (China); Zhang Qingjiong [State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060 (China)], E-mail: qingjiongzhang@yahoo.com; Yao Yonggang [Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223 (China)]|[State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223 (China)], E-mail: ygyaozh@yahoo.com; Zhang Yaping [Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming 650091 (China)]|[State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223 (China)

2008-08-25

The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that cosegregated with G11778A in these two pedigrees. Our results suggest that the variable penetrance of LHON in the two Chinese families is independent of both their mtDNA haplotype background and a secondary mutation G13708A. As a result, it is likely that unknown nuclear gene involvement and/or other factors contribute to the strikingly different penetrance of LHON.

Documenting the Earliest Chinese Journals

Directory of Open Access Journals (Sweden)

Jian-zhong (Joe Zhou

2001-10-01

Full Text Available

頁次：19-24

family: 新細明體;" lang="EN-US">family: Times New Roman;">According to various authoritative sources, the English word "journal" was first used in the 16lh century, but the existence of the journal in its original meaning as a daily record can be traced back to Acta Diuma (Daily Events in ancient Roman cities as early as 59 B.C. This article documents the first appearance of Chinese daily records that were much early than 59 B.C.

family: 新細明體;" lang="EN-US">family: Times New Roman;">The evidence of the earlier Chinese daily records came from some important archaeological discoveries in the 1970's, but they were also documented by Sima Qian (145 B.C. - 85 B.C., the grand historian of the Han Dynasty imperial court. Sima's lifetime contribution was the publication of Shi Ji (family: "新細明體","serif"; mso-ascii-font-family: 'Times New Roman'; mso-fareast-theme-font: minor-fareast; mso-font-kerning: 0pt; mso-hansi-font-family: 'Times New Roman';">史記family: Times New Roman;">family: 新細明體;" lang="EN-US"> (The Grand Scribe's Records, the Records hereafter. The Records is a book of history of a grand scope. It encompasses all Chinese history from 30lh century B.C. through the end of the second century B.C. in 130 chapters and over 525,000 Chinese

Beliefs in advance care planning among Chinese Americans: Similarities and differences between the younger and older generations

Directory of Open Access Journals (Sweden)

Mei Ching Lee

2017-10-01

Full Text Available The purpose of this research is to explore behavioral, normative, and control beliefs in the discussion of advance care planning (ACP among older and younger Chinese Americans. Ethnic minority groups have been identified as less engaged in ACP and this represents an ethnic and cultural gap. Older Chinese American adults often have different beliefs and values compared to the younger generation who are more acculturated to American mainstream culture. These differences may hinder the discussion of ACP with Chinese older adults. A qualitative design was used. The Theory of Planned Behavior guided the development of the interview guide. We recruited 60 Chinese Americans. Prior experience was identified as a theme that influenced attitudes about ACP. We found that older and younger Chinese participants had different beliefs in the norm and control related to ACP discussions, but not in the belief of attitudes about ACP discussions. Both younger and older Chinese American participants believed that ACP was important and necessary. Participants in both clusters expressed that they were ready and willing to engage in ACP discussions with their family members but hesitant to initiate these discussions. The reluctance in discussing ACP with Chinese older adults may be related to the expectations and obligations of Xiao (filial piety in Chinese culture. This study describes the similarities and differences of beliefs in ACP between older and younger Chinese Americans. We identified barriers and facilitators in behavioral, normative, and control beliefs that can be used to promote ACP for Chinese Americans.

Multi-Dimensionality of Acculturative Stress among Chinese International Students: What Lies behind Their Struggles?

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Zhang, Yue; Jung, Eunjoo

2017-01-01

This study aimed to identify the underlying dimensions of acculturative stress that Chinese international students may encounter in the U.S. In addition, we re-examined students' background characteristics and perceived social support from family, friends, and their school as predictors of students' different dimensions of acculturative stress. In…

Depression amongst Chinese Adolescents in Hong Kong: An Evaluation of a Stress Moderation Model

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Ng, Catalina S. M.; Hurry, Jane

2011-01-01

Stress has an established association with depression. However, not all adolescents experiencing stressors become depressed and it is helpful to identify potential resilience factors. The current study tests a theoretical extension of a stress-diathesis model of depression in a Chinese context, with stress, coping, family relationships, and…

Physical discipline in Chinese American immigrant families: An adaptive culture perspective.

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Lau, Anna S

2010-07-01

Research on ethnic minority parenting has examined heritage cultural influences and contextual stressors on parenting processes. However, rarely are adaptive cultural processes considered, whereby ethnic minority parents bring their cultural values to bear in adapting to contextual demands in the host society. A survey of 107 Chinese American immigrant parents examined whether use of physical discipline can be predicted by cultural values, contextual stressors, and their interactions. Results indicated that distinct domains of cultural values were related to physical discipline in disparate ways, with some values decreasing risk and others indirectly increasing risk. There was some evidence that cultural values interacted with contextual stress to predict physical discipline. Parent-child acculturation conflicts were only related to physical discipline when parents held strong values about the importance of firm parental control. The findings illustrate how heritage cultural influences and current ecological demands may converge to shape parenting in immigrant families.

New families of human regulatory RNA structures identified by comparative analysis of vertebrate genomes.

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Parker, Brian J; Moltke, Ida; Roth, Adam; Washietl, Stefan; Wen, Jiayu; Kellis, Manolis; Breaker, Ronald; Pedersen, Jakob Skou

2011-11-01

Regulatory RNA structures are often members of families with multiple paralogous instances across the genome. Family members share functional and structural properties, which allow them to be studied as a whole, facilitating both bioinformatic and experimental characterization. We have developed a comparative method, EvoFam, for genome-wide identification of families of regulatory RNA structures, based on primary sequence and secondary structure similarity. We apply EvoFam to a 41-way genomic vertebrate alignment. Genome-wide, we identify 220 human, high-confidence families outside protein-coding regions comprising 725 individual structures, including 48 families with known structural RNA elements. Known families identified include both noncoding RNAs, e.g., miRNAs and the recently identified MALAT1/MEN β lincRNA family; and cis-regulatory structures, e.g., iron-responsive elements. We also identify tens of new families supported by strong evolutionary evidence and other statistical evidence, such as GO term enrichments. For some of these, detailed analysis has led to the formulation of specific functional hypotheses. Examples include two hypothesized auto-regulatory feedback mechanisms: one involving six long hairpins in the 3'-UTR of MAT2A, a key metabolic gene that produces the primary human methyl donor S-adenosylmethionine; the other involving a tRNA-like structure in the intron of the tRNA maturation gene POP1. We experimentally validate the predicted MAT2A structures. Finally, we identify potential new regulatory networks, including large families of short hairpins enriched in immunity-related genes, e.g., TNF, FOS, and CTLA4, which include known transcript destabilizing elements. Our findings exemplify the diversity of post-transcriptional regulation and provide a resource for further characterization of new regulatory mechanisms and families of noncoding RNAs.

The Effect of Implicit-Explicit Followership Congruence on Benevolent Leadership: Evidence from Chinese Family Firms.

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Wang, Xiao; Peng, Jian

2016-01-01

Benevolent leadership, a traditional Chinese leadership style generated under the influence of Confucianism, has been under growing discussion since its proposal. However, existing research has focused mainly on the consequences of benevolent leadership, and research probing into its antecedents is scarce. To fill such research gap, the current study aims to explore the effect of the congruence between implicit positive followership prototype (PFP) and explicit positive followership trait (PFT) on benevolent leadership. Polynomial regression combined with the response surface methodology was used to test the hypotheses herein. The results, based on a sample of 241 leader-follower dyads from four Chinese family firms, indicated the following: (1) benevolent leadership is higher when leader PFP is congruent with follower PFT than when they are incongruent; (2) in cases of congruence, benevolent leadership is higher when leader PFP and follower PFT are both high rather than low; (3) in the case of incongruence, there is no significant difference for the level of benevolent leadership in two scenarios: "low leader PFP - high follower PFT" and "high leader PFP - low follower PFT".

Ethical issues in identifying and recruiting participants for familial genetic research.

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Beskow, Laura M; Botkin, Jeffrey R; Daly, Mary; Juengst, Eric T; Lehmann, Lisa Soleymani; Merz, Jon F; Pentz, Rebecca; Press, Nancy A; Ross, Lainie Friedman; Sugarman, Jeremy; Susswein, Lisa R; Terry, Sharon F; Austin, Melissa A; Burke, Wylie

2004-11-01

Family-based research is essential to understanding the genetic and environmental etiology of human disease. The success of family-based research often depends on investigators' ability to identify, recruit, and achieve a high participation rate among eligible family members. However, recruitment of family members raises ethical concerns due to the tension between protecting participants' privacy and promoting research quality, and guidelines for these activities are not well established. The Cancer Genetics Network Bioethics Committee assembled a multidisciplinary group to explore the scientific and ethical issues that arise in the process of family-based recruitment. The group used a literature review as well as expert opinion to develop recommendations about appropriate approaches to identifying, contacting, and recruiting family members. We conclude that there is no single correct approach, but recommend a balanced approach that takes into account the nature of the particular study as well as its recruitment goals. Recruitment of family members should be viewed as part of the research protocol and should require appropriate informed consent of the already-enrolled participant. Investigators should inform prospective participants why they are being contacted, how information about them was obtained, and what will happen to that information if they decide not to participate. The recruitment process should also be sensitive to the fact that some individuals from families at increased genetic risk will have no prior knowledge of their risk status. These recommendations are put forward to promote further discussion about the advantages and disadvantages of various approaches to family-based recruitment. They suggest a framework for considering alternative recruitment strategies and their implications, as well as highlight areas in need of further empirical research. (c) 2004 Wiley-Liss, Inc.

[The current status of passive smoking in Chinese families and associated factors].

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Wang, Chun-Ping; Xu, Xue-Fang; Ma, Shao-Jun; Mei, Cui-Zhu; Wang, Jun-Fang; Chen, Ai-Ping; Yang, Gong-Huan

2008-03-01

To understand the prevalence of passive smoking in Chinese families and discuss its associated factors, as to providing scientific evidence for establishing tobacco control measures in China. Cross-sectional survey: from June to September, 2004, we randomly selected six counties in three different provinces ( Mianzhu and Xichong of Sichuan Province; Anyi and Hukou of Jiangxi Province; Xinan and Yanshi of Henan Province) and performed face-to-face questionnaire survey on citizens between 18 and 69 years old. All the data were double independently input by professional data entry company to ensure data accuracy. The prevalence of home passive smoking exposure in families with different demographic characteristics was described by using prevalence, and the possible correlated factors of home passive smoking exposure as independent variables, multiple factors were analyzed using Logistic Stepwise Regression Analysis method. The analysis on 8142 nonsmokers revealed that the rate of passive smoking was 28.42%, with 27.38% of male and 28.93% of female suffering from passive smoking. All 87.19% of the smokers would smoke in front of their families. As many as 42.14% of the nonsmokers would offer cigarettes to their guests, while about 46.82% of the nonsmokers would suggest smokers to smoke outdoor. Home restriction on tobacco was extremely rare and only 6.33% of all the families completely forbade smoking. Multivariate logistic regression analysis of non-conditions revealed that, there was a lower level of involuntary tobacco smoke exposure in female, older age group, lower education level, divorced, or widowed families. There was no difference in involuntary tobacco smoke exposure between town dwellers and county dwellers, but such difference did exist in different districts. The three provinces under investigation should have severe involuntary tobacco smoking exposure. Gender, age, literacy level, occupation and region should be all factors that influence the status of

Measuring social impacts of breast carcinoma treatment in Chinese women.

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Fielding, Richard; Lam, Wendy W T

2004-06-15

There is no existing instrument that is suitable for measuring the social impact of breast carcinoma (BC) and its treatment among women of Southern Chinese descent. In the current study, the authors assessed the validity of the Chinese Social Adjustment Scale, which was designed to address the need for such an instrument. Five dimensions of social concern were identified in a previous study of Cantonese-speaking Chinese women with BC; these dimensions were family and other relationships, intimacy, private self-image, and public self-image. The authors designed 40 items to address perceptions of change in these areas. These items were administered to a group of 226 women who had received treatment for BC, and factor analysis subsequently was performed to determine construct characteristics. The resulting draft instrument then was administered, along with other measures for the assessment of basic psychometric properties, to a second group of 367 women who recently had undergone surgery for BC. Factor analysis optimally identified 5 factors (corresponding to 33 items): 1) Relationships with Family (10 items, accounting for 22% of variance); 2) Self-Image (7 items, accounting for 15% of variance); 3) Relationships with Friends (7 items, accounting for 8% of variance); 4) Social Enjoyment (4 items, accounting for 6% of variance); and 5) Attractiveness and Sexuality (5 items, accounting for 5% of variance). Subscales were reliable (alpha = 0.63-0.93) and exhibited convergent validity in positive correlations with related measures and divergent validity in appropriate inverse or nonsignificant correlations with other measures. Criterion validity was good, and sensitivity was acceptable. Patterns of change on the scales were consistent with reports in the literature. Self-administration resulted in improved sensitivity. The 33-item Chinese Social Adjustment Scale validly, reliably, and sensitively measures the social impact of BC on Cantonese-speaking Hong Kong Chinese

Rasch validation of the Chinese parent-child interaction scale (CPCIS).

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Ip, Patrick; Tso, Winnie; Rao, Nirmala; Ho, Frederick Ka Wing; Chan, Ko Ling; Fu, King Wa; Li, Sophia Ling; Goh, Winnie; Wong, Wilfred Hing-Sang; Chow, Chun Bong

2018-03-15

Proper parent-child interaction is crucial for child development, but an assessment tool in Chinese is currently lacking. This study aimed to develop and validate a parent-reported parent-child interaction scale for Chinese preschool children. The Chinese parent-child interaction scale (CPCIS) was designed by an expert panel based on the literature and clinical observations in the Chinese context. The initial CPCIS had 14 parent-child interactive activity items. Psychometric properties of the CPCIS were examined using the Rasch model and confirmatory factor analysis (CFA). Convergent validity was investigated by the associations between CPCIS and family income, maternal education level, and children's school readiness. The study recruited 567 Chinese parent-child pairs from diverse socioeconomic backgrounds, who completed the CPCIS. Six out of the 14 items in the initial CPCIS were dropped due to suboptimal fit values. The refined 8-item CPCIS was shown to be valid and reliable by Rasch models and CFA. The person separation reliability and Cronbach's α of the CPCIS were 0.81 and 0.82, respectively. The CPCIS scores were positively associated with family's socioeconomic status (η 2  = 0.05, P parent-child interactions in Chinese families.

Sex-dependent associations of genetic variants identified by GWAS with indices of adiposity and obesity risk in a Chinese children population.

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Xi, Bo; Shen, Yue; Reilly, Kathleen Heather; Zhao, Xiaoyuan; Cheng, Hong; Hou, Dongqing; Wang, Xingyu; Mi, Jie

2013-10-01

Recent genome-wide association studies have identified a few single nucleotide polymorphisms (SNPs), which are associated with body mass index (BMI)/obesity. This study aimed to examine the identified associations among a population of Chinese children. Five SNPs (SEC16B rs10913469, SH2B1 rs4788102, PCSK1rs6235, KCTD15 rs29941, BAT2 rs2844479) were genotyped for a group of Chinese children (N = 2849, age range 6-18 years). A total of 1230 obese cases and 1619 controls with normal weight were identified based on the Chinese age- and sex-specific BMI references. Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated with indices of adiposity and obesity risk in girls and only SEC16B rs10913469 in children at puberty (p indicated that the genetic risk score (GRS) was associated with BMI, waist circumference and risk of obesity (defined by BMI) in girls, even after FDR adjustment for multiple testing. However, there was no statistical association of GRS with indices of adiposity and risk of obesity in children at puberty after multiple comparison correction. This study confirmed the synthetic effect of SNPs on the indices of adiposity and risk of obesity in Chinese girls, but failed to replicate the effect of five separate variants. We also did not found cumulative effect of SNPs in children at puberty. © 2012 John Wiley & Sons Ltd.

A Fuzzy Computing Model for Identifying Polarity of Chinese Sentiment Words.

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Wang, Bingkun; Huang, Yongfeng; Wu, Xian; Li, Xing

2015-01-01

With the spurt of online user-generated contents on web, sentiment analysis has become a very active research issue in data mining and natural language processing. As the most important indicator of sentiment, sentiment words which convey positive and negative polarity are quite instrumental for sentiment analysis. However, most of the existing methods for identifying polarity of sentiment words only consider the positive and negative polarity by the Cantor set, and no attention is paid to the fuzziness of the polarity intensity of sentiment words. In order to improve the performance, we propose a fuzzy computing model to identify the polarity of Chinese sentiment words in this paper. There are three major contributions in this paper. Firstly, we propose a method to compute polarity intensity of sentiment morphemes and sentiment words. Secondly, we construct a fuzzy sentiment classifier and propose two different methods to compute the parameter of the fuzzy classifier. Thirdly, we conduct extensive experiments on four sentiment words datasets and three review datasets, and the experimental results indicate that our model performs better than the state-of-the-art methods.

Parental encouragement of initiative-taking and adjustment in Chinese children from rural, urban, and urbanized families.

Science.gov (United States)

Chen, Xinyin; Li, Dan

2012-12-01

Due to the requirements of the competitive, market-oriented urban society, parents in urban and urbanized families are more likely than parents in rural families to encourage initiative-taking in child rearing in China. The socialization experiences of children from different types of families may be related to their adjustment. This study examined parental socialization attitudes, social and school adjustment, and their relations in Chinese children from rural, urban, and urbanized families. Participants were elementary school students (N = 1,033; M age = 11 years) and their parents in China. Data were obtained from parental reports, peer evaluations, teacher ratings, and school records. A multivariate analysis of variance revealed that parents in urban and urbanized families had higher scores than parents in rural families on encouragement of initiative-taking. Urban children, particularly girls, were more sociable, obtained higher social status, and had fewer school problems than their rural counterparts. Children from urbanized families were different from rural children and similar to urban children in social and school adjustment. Moreover, multigroup invariance tests showed that parental encouragement of initiative-taking was associated more strongly with children's sociable-assertive behavior and social standing in the urban and urbanized groups than in the rural group. The results indicate that particular socialization attitudes may vary in their adaptive value in child development as a function of specific social and cultural requirements in changing societies. PsycINFO Database Record (c) 2012 APA, all rights reserved.

A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II

International Nuclear Information System (INIS)

Wang Haoyang; Hou Yanning; Cui Yingxia; Huang Yufeng; Shi Yichao; Xia Xinyi; Lu Hongyong; Wang Yunhua; Li Xiaojun

2009-01-01

Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM 125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II, but without bilateral progressive high-frequency sensorineural hearing loss. To investigate the mutated molecule, a positional candidate approach was used to determine the mutated gene in this family. Genomic DNA was obtained from 24 affected individuals, 18 unaffected relatives of the family and 50 controls. Haplotype analysis was performed using leukocyte DNA for 6 short tandem repeat (STR) markers present in chromosome 4 (D4S1534, GATA62A11, DSPP, DMP1, SPP1 and D4S1563). In the critical region between D4S1534 and DMP1, the dentin sialophosphoprotein (DSPP) gene (OMIM *125485) was considered as the strongest candidate gene. The first four exons and exon/intron boundaries of the gene were analyzed using DNA from 24 affected individuals and 18 unaffected relatives of the same family. DNA sequencing revealed a heterozygous deletion mutation in intron 2 (at positions -3 to -25), which resulted in a frameshift mutation, that changed the acceptor site sequence from CAG to AAG (IVS2-3C→A) and may also have disrupted the branch point consensus sequence in intron 2. The mutation was found in the 24 affected individuals, but not in the 18 unaffected relatives and 50 controls. The deletion was identified by allele-specific sequencing and denaturing high-performance liquid chromatography (DHPLC) analysis. We conclude that the heterozygous deletion mutation contributed to the pathogenesis of DGI-II

High-Resolution Genome-Wide Linkage Mapping Identifies Susceptibility Loci for BMI in the Chinese Population

DEFF Research Database (Denmark)

Zhang, Dong Feng; Pang, Zengchang; Li, Shuxia

2012-01-01

The genetic loci affecting the commonly used BMI have been intensively investigated using linkage approaches in multiple populations. This study aims at performing the first genome-wide linkage scan on BMI in the Chinese population in mainland China with hypothesis that heterogeneity in genetic...... linkage could exist in different ethnic populations. BMI was measured from 126 dizygotic twins in Qingdao municipality who were genotyped using high-resolution Affymetrix Genome-Wide Human SNP arrays containing about 1 million single-nucleotide polymorphisms (SNPs). Nonparametric linkage analysis...... in western countries. Multiple loci showing suggestive linkage were found on chromosome 1 (lod score 2.38 at 242 cM), chromosome 8 (2.48 at 95 cM), and chromosome 14 (2.2 at 89.4 cM). The strong linkage identified in the Chinese subjects that is consistent with that found in populations of European origin...

System Characteristics and Original Type Features of Chinese Huqin Family Instrument%中国胡琴族乐器的系统类型与原生型特征

Institute of Scientific and Technical Information of China (English)

王欣

2015-01-01

Combined with brief characteristics of different types of instruments, Chinese huqin family instruments were divided into three types. This article describes their respective shape of holding, placing, and playing the instruments. Meanwhile, through meticulous combing for the Chinese Huqin family instruments, the writer summarizes and extracts two types of Chinese Huqin instrument of family - membrane surface vibration system and plate surface vibration system.%结合不同种类乐器的简要特征，将中国胡琴族乐器划分为板箱型、颈箱型和颈杆型，并介绍其各自相应的持琴、置放、演奏形态。同时，通过对中国胡琴族乐器的细致梳理，总结并提炼出中国胡琴族乐器的两种类型——膜面振动系统和板面振动系统。

Parenting the Chinese Way in America

Science.gov (United States)

Wu, Echo H.; Hertberg-Davis, Holly

2009-01-01

This paper illustrates a case study on two Chinese American families with gifted children, and the major topic focuses on the influence of parenting beliefs and practices on children's talent development. In-depth interviews were employed to collect data from the Chinese parents who lived in America, and research questions include the daily…

Moving beyond caregiver burden: identifying helpful interventions for family caregivers.

Science.gov (United States)

Sorrell, Jeanne M

2014-03-01

Family members serving as informal caregivers for loved ones often experience physical, psychological, emotional, social, and financial consequences that can be conceptualized as caregiver burden. As the number of older adults in our society continues to increase, there will be even more demand for family caregivers. It is important to move beyond a focus on the statistics and characteristics of caregiver burden and identify helpful interventions to reduce this burden. Interventions that decrease caregiver burden can enable family caregivers to delay placement of the individual in an institutional setting and improve quality of life for both the caregiver and care recipient. Copyright 2014, SLACK Incorporated.

Patient- and Family-Identified Problems of Traumatic Brain Injury: Value and Utility of a Target Outcome Approach to Identifying the Worst Problems

Directory of Open Access Journals (Sweden)

Laraine Winter

2016-01-01

Full Text Available Purpose: This study aimed to identify the sequelae of traumatic brain injury (TBI that are most troubling to veterans with TBI and their families and identify veteran-family differences in content and ranking. Instead of standardized measures of symptom frequency or severity, which may be insensitive to change or intervention effects, we used a target outcome measure for veterans with TBI and their key family members, which elicited open-ended reports concerning the three most serious TBI-related problems. This was followed by Likert-scaled ratings of difficulty in managing the problem. Methods: In this cross-sectional study, interviews were conducted in veterans’ homes. Participants included 83 veterans with TBI diagnosed at a Veterans Affairs medical rehabilitation service and a key family member of each veteran. We utilized open-ended questions to determine the problems caused by TBI within the last month. Sociodemographic characteristics of veterans and family members, and veterans’ military and medical characteristics were collected. A coding scheme was developed to categorize open-ended responses. Results: Families identified nearly twice as many categories of problems as did veterans, and veterans and families ranked problem categories very differently. Veterans ranked cognitive and physical problems worst; families ranked emotional and interpersonal problems worst. Conclusions: Easily administered open-ended questions about the most troubling TBI-related problems yield novel insights and reveal important veteran-family discrepancies.

Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family

Directory of Open Access Journals (Sweden)

Yunqiang Liu

2017-06-01

Full Text Available Abstract Anophthalmia is a rare eye development anomaly resulting in absent ocular globes or tissue in the orbit since birth. Here, we investigated a newborn with bilateral anophthalmia in a Chinese family. Exome sequencing revealed that compound heterozygous mutations c.287G > A (p.(Arg96His and c.709G > A (p.(Gly237Arg of the ALDH1A3 gene were present in the affected newborn. Both mutations were absent in all of the searched databases, including 10,000 in-house Chinese exome sequences, and these mutations were confirmed as having been transmitted from the parents. Comparative amino acid sequence analysis across distantly related species revealed that the residues at positions 96 and 234 were evolutionarily highly conserved. In silico analysis predicted these changes to be damaging, and in vitro expression analysis revealed that the mutated alleles were associated with decreased protein production and impaired tetrameric protein formation. This study firstly reported that compound heterozygous mutations of the ALDH1A3 gene can result in anophthalmia in humans, thus highlighting those heterozygous mutations in ALDH1A3 should be considered for molecular screening in anophthalmia, particularly in cases from families without consanguineous relationships.

Age at onset of major depressive disorder in Han Chinese women: Relationship with clinical features and family history☆

Science.gov (United States)

Yang, Fuzhong; Li, Yihan; Xie, Dong; Shao, Chunhong; Ren, Jianer; Wu, Wenyuan; Zhang, Ning; Zhang, Zhen; Zou, Ying; Zhang, Jiulong; Qiao, Dongdong; Gao, Chengge; Li, Youhui; Hu, Jian; Deng, Hong; Wang, Gang; Du, Bo; Wang, Xumei; Liu, Tiebang; Gan, Zhaoyu; Peng, Juyi; Wei, Bo; Pan, Jiyang; Chen, Honghui; Sun, Shufan; Jia, Hong; Liu, Ying; Chen, Qiaoling; Wang, Xueyi; Cao, Juling; Lv, Luxian; Chen, Yunchun; Ha, Baowei; Ning, Yuping; Chen, YiPing; Kendler, Kenneth S.; Flint, Jonathan; Shi, Shenxun

2011-01-01

Background Individuals with early-onset depression may be a clinically distinct group with particular symptom patterns, illness course, comorbidity and family history. This question has not been previously investigated in a Han Chinese population. Methods We examined the clinical features of 1970 Han Chinese women with DSM-IV major depressive disorder (MDD) between 30 and 60 years of age across China. Analysis of linear, logistic and multiple logistic regression models was used to determine the association between age at onset (AAO) with continuous, binary and discrete characteristic clinical features of MDD. Results Earlier AAO was associated with more suicidal ideation and attempts and higher neuroticism, but fewer sleep, appetite and weight changes. Patients with an earlier AAO were more likely to suffer a chronic course (longer illness duration, more MDD episodes and longer index episode), increased rates of MDD in their parents and a lower likelihood of marriage. They tend to have higher comorbidity with anxiety disorders (general anxiety disorder, social phobia and agoraphobia) and dysthymia. Conclusions Early AAO in MDD may be an index of a more severe, highly comorbid and familial disorder. Our findings indicate that the features of MDD in China are similar to those reported elsewhere in the world. PMID:21782247

Age at onset of major depressive disorder in Han Chinese women: relationship with clinical features and family history.

Science.gov (United States)

Yang, Fuzhong; Li, Yihan; Xie, Dong; Shao, Chunhong; Ren, Jianer; Wu, Wenyuan; Zhang, Ning; Zhang, Zhen; Zou, Ying; Zhang, Jiulong; Qiao, Dongdong; Gao, Chengge; Li, Youhui; Hu, Jian; Deng, Hong; Wang, Gang; Du, Bo; Wang, Xumei; Liu, Tiebang; Gan, Zhaoyu; Peng, Juyi; Wei, Bo; Pan, Jiyang; Chen, Honghui; Sun, Shufan; Jia, Hong; Liu, Ying; Chen, Qiaoling; Wang, Xueyi; Cao, Juling; Lv, Luxian; Chen, Yunchun; Ha, Baowei; Ning, Yuping; Chen, Yiping; Kendler, Kenneth S; Flint, Jonathan; Shi, Shenxun

2011-12-01

Individuals with early-onset depression may be a clinically distinct group with particular symptom patterns, illness course, comorbidity and family history. This question has not been previously investigated in a Han Chinese population. We examined the clinical features of 1970 Han Chinese women with DSM-IV major depressive disorder (MDD) between 30 and 60 years of age across China. Analysis of linear, logistic and multiple logistic regression models was used to determine the association between age at onset (AAO) with continuous, binary and discrete characteristic clinical features of MDD. Earlier AAO was associated with more suicidal ideation and attempts and higher neuroticism, but fewer sleep, appetite and weight changes. Patients with an earlier AAO were more likely to suffer a chronic course (longer illness duration, more MDD episodes and longer index episode), increased rates of MDD in their parents and a lower likelihood of marriage. They tend to have higher comorbidity with anxiety disorders (general anxiety disorder, social phobia and agoraphobia) and dysthymia. Early AAO in MDD may be an index of a more severe, highly comorbid and familial disorder. Our findings indicate that the features of MDD in China are similar to those reported elsewhere in the world. Copyright © 2011 Elsevier B.V. All rights reserved.

Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia.

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Zhang, Xiao Xia; Wong, Sing Wai; Han, Dong; Feng, Hai Lan

2015-01-01

To describe the simultaneous occurence of an autosomal dominant inherited MSX1 mutation and an X-linked recessive inherited EDA mutation in one Chinese family with nonsyndromic oligodontia. Clinical data of characteristics of tooth agenesis were collected. MSX1 and EDA gene mutations were detected in a Chinese family of non-syndromic oligodontia. Mild hypodontia in the parents and severe oligodontia in the son was recorded. A novel missense heterozygous mutation c.517C>A (p.Arg173Ser) was detected in the MSX1 gene in the boy and the father. A homozygous missense mutation c.1001G>A (p.Arg334His) was detected in the EDA gene in the boy and the same mutant occurred heterozygously in the mother. Simultaneous occurence of two different gene mutations with different inheritence patterns, which both caused oligodontia, which occurred in one subject and in one family, was reported.

Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness

International Nuclear Information System (INIS)

Dai Pu; Liu Xin; Han Dongyi; Qian Yaping; Huang Deliang; Yuan Huijun; Li Weiming; Yu Fei; Zhang Ruining; Lin Hongyan; He Yong; Yu Youjun; Sun Quanzhu; Qin Huaiyi; Li Ronghua; Zhang Xin; Kang Dongyang; Cao Juyang; Young Wieyen; Guan Minxin

2006-01-01

Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here the clinical, genetic, and molecular characterization of 16 Chinese pedigrees (a total of 246 matrilineal relatives) with aminoglycoside-induced impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects, although these subjects share some common features: being bilateral and sensorineural hearing impairment. Strikingly, these Chinese pedigrees exhibited extremely low penetrance of hearing loss, ranging from 4% to 18%, with an average of 8%. In particular, nineteen of 246 matrilineal relatives in these pedigrees had aminoglycoside-induced hearing loss. Mutational analysis of the mtDNA in these pedigrees showed the presence of homoplasmic 12S rRNA A1555G mutation, which has been associated with hearing impairment in many families worldwide. The extremely low penetrance of hearing loss in these Chinese families carrying the A1555G mutation strongly supports the notion that the A1555G mutation itself is not sufficient to produce the clinical phenotype. Children carrying the A1555G mutation are susceptible to the exposure of aminoglycosides, thereby inducing or worsening hearing impairment, as in the case of these Chinese families. Using those genetic and molecular approaches, we are able to diagnose whether children carry the ototoxic mtDNA mutation. Therefore, these data have been providing valuable information and technology to predict which individuals are at risk for ototoxicity, to improve the safety of aminoglycoside therapy, and eventually to decrease the incidence of deafness

Chinese culture and fertility decline.

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Wu, C; Jia, S

1992-01-01

Coale has suggested that cultural factors exert a significant influence on fertility reduction; countries in the "Chinese cultural circle" would be the first to show fertility decline. In China, the view was that traditional Chinese culture contributed to increased population. This paper examines the nature of the relationship between Chinese culture and fertility. Attention was directed to a comparison of fertility rates of developing countries with strong Chinese cultural influence and of fertility within different regions of China. Discussion was followed by an explanation of the theoretical impact of Chinese culture on fertility and direct and indirect beliefs and practices that might either enhance or hinder fertility decline. Emigration to neighboring countries occurred after the Qing dynasty. Fertility after the 1950s declined markedly in Japan, Singapore, Hong Kong, South Korea, Taiwan, and mainland China: all countries within the Chinese cultural circle. Other countries within the Chinese circle which have higher fertility, yet lower fertility than other non-Chinese cultural countries, are Malaysia, Thailand, and Indonesia. Within China, regions with similar fertility patterns are identified as coastal regions, central plains, and mountainous and plateau regions. The Han ethnic group has lower fertility than that of ethnic minorities; regions with large Han populations have lower fertility. Overseas Chinese in East Asian countries also tend to have lower fertility than their host populations. Chinese culture consisted of the assimilation of other cultures over 5000 years. Fertility decline was dependent on the population's desire to limit reproduction, favorable social mechanisms, and availability of contraception: all factors related to economic development. Chinese culture affects fertility reduction by affecting reproductive views and social mechanisms directly, and indirectly through economics. Confucianism emphasizes collectivism, self

Perceived Social Change, Parental Control, and Family Relations: A Comparison of Chinese Families in Hong Kong, Mainland China, and the United States

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Fung, Joey; Kim, Joanna J.; Jin, Joel; Wu, Qiaobing; Fang, Chao; Lau, Anna S.

2017-01-01

This study examined the relationship between perceived social change, parental control and family relations in a sample of 419 4th and 5th grade children and their mothers who are of Chinese descent but reside in three different contexts: Los Angeles (LA), Hong Kong (HK), and Beijing (BJ). HK mothers endorsed the highest levels of psychological control and the lowest levels of autonomy support compared to BJ and LA mothers. Perceived social change as measured by mothers’ endorsement of new values and ideologies was associated with increased use of both autonomy support and psychological control. Results of the mediation analyses suggested that perceived social change explained differences between LA and HK mothers in autonomy support, but group differences in psychological control were magnified when perceived social change was accounted for. Finally, whereas autonomy support was associated with higher levels of child perceived acceptance in HK and LA, psychological control was associated with greater family conflict in BJ and LA. Findings suggested that as families undergo urbanization or social change, it may shift the implications of traditional strategies that are intended to socialize the child toward interpersonal attunement. Overall, the study highlights the importance of moving beyond ethnic-group or cross-national comparisons to investigate the role of changing social and economic contexts in understanding differences in the use of parental control and their associations with family relations. PMID:29062285

Perceived Social Change, Parental Control, and Family Relations: A Comparison of Chinese Families in Hong Kong, Mainland China, and the United States.

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Fung, Joey; Kim, Joanna J; Jin, Joel; Wu, Qiaobing; Fang, Chao; Lau, Anna S

2017-01-01

This study examined the relationship between perceived social change, parental control and family relations in a sample of 419 4th and 5th grade children and their mothers who are of Chinese descent but reside in three different contexts: Los Angeles (LA), Hong Kong (HK), and Beijing (BJ). HK mothers endorsed the highest levels of psychological control and the lowest levels of autonomy support compared to BJ and LA mothers. Perceived social change as measured by mothers' endorsement of new values and ideologies was associated with increased use of both autonomy support and psychological control. Results of the mediation analyses suggested that perceived social change explained differences between LA and HK mothers in autonomy support, but group differences in psychological control were magnified when perceived social change was accounted for. Finally, whereas autonomy support was associated with higher levels of child perceived acceptance in HK and LA, psychological control was associated with greater family conflict in BJ and LA. Findings suggested that as families undergo urbanization or social change, it may shift the implications of traditional strategies that are intended to socialize the child toward interpersonal attunement. Overall, the study highlights the importance of moving beyond ethnic-group or cross-national comparisons to investigate the role of changing social and economic contexts in understanding differences in the use of parental control and their associations with family relations.

Perceived Social Change, Parental Control, and Family Relations: A Comparison of Chinese Families in Hong Kong, Mainland China, and the United States

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Joey Fung

2017-10-01

Full Text Available This study examined the relationship between perceived social change, parental control and family relations in a sample of 419 4th and 5th grade children and their mothers who are of Chinese descent but reside in three different contexts: Los Angeles (LA, Hong Kong (HK, and Beijing (BJ. HK mothers endorsed the highest levels of psychological control and the lowest levels of autonomy support compared to BJ and LA mothers. Perceived social change as measured by mothers’ endorsement of new values and ideologies was associated with increased use of both autonomy support and psychological control. Results of the mediation analyses suggested that perceived social change explained differences between LA and HK mothers in autonomy support, but group differences in psychological control were magnified when perceived social change was accounted for. Finally, whereas autonomy support was associated with higher levels of child perceived acceptance in HK and LA, psychological control was associated with greater family conflict in BJ and LA. Findings suggested that as families undergo urbanization or social change, it may shift the implications of traditional strategies that are intended to socialize the child toward interpersonal attunement. Overall, the study highlights the importance of moving beyond ethnic-group or cross-national comparisons to investigate the role of changing social and economic contexts in understanding differences in the use of parental control and their associations with family relations.

"Do You Know Your Language?" How Teachers of Punjabi and Chinese Ancestries Construct Their Family Languages in Their Personal and Professional Lives.

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Beynon, June; Ilieva, Roumiana; Dichupa, Marela; Hirji, Shemina

2003-01-01

Focuses on how teachers of minority ancestries construct and represent their family language identities. Drawing on poststructural, postcolonial and sociocultural theory on culture, identity, and language, examined the complex nature of linguistic identities of 25 teachers of Chinese and 20 teachers of Punjabi ancestries. (Author/VWL)

Perceived Organizational Support Impacts on the Associations of Work-Family Conflict or Family-Work Conflict with Depressive Symptoms among Chinese Doctors.

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Hao, Junhui; Wang, Jiana; Liu, Li; Wu, Wei; Wu, Hui

2016-03-16

As a common mental disorder, depressive symptoms had been studied extensively all over the world. However, positive resources for combating depressive symptoms among Chinese doctors were rarely studied. Our study aimed to investigate the relationships between work-family conflict (WFC) and family-work conflict (FWC) with depressive symptoms among Chinese doctors. Meanwhile, the role of perceived organizational support (POS) in this association was explored at an organizational level. The investigation was conducted between March and April 2014. Questionnaires that measured WFC, FWC, depressive symptoms and POS were distributed to 1200 doctors in Shenyang, China. The final study subjects were 931 doctors (effective response rate: 77.6%). In all analyses, male and female doctors were analyzed separately because of possible gender differences. Hierarchical linear regression analyses were used to examine the moderating role of POS. Baron and Kenny's technique and asymptotic and resampling strategies were used to explore the mediating role of POS on the associations of WFC or FWC with depressive symptoms. WFC and FWC had positive relations with depressive symptoms among doctors. POS played a partial mediating role on the correlation of FWC with depressive symptoms among male doctors, and POS played a partial mediating role on the correlation of WFC with depressive symptoms among female doctors. POS had a positive moderating effect on the relationship between WFC and depressive symptoms among doctors. WFC and FWC could aggravate doctors' depressive symptoms, and POS, as an organizational resource, could fight against doctors' depressive symptoms. When POS functioned as a mediator, FWC had a negative effect on POS, which could increase male doctors' depressive symptoms, and WFC had a negative effect on POS, which could increase female doctors' depressive symptoms. In the meantime, POS, as a moderator, could enhance the effects of WFC on depressive symptoms.

Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

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Shuzhi Yang

Full Text Available Waardenburg Syndrome (WS is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF gene mutations account for about 15% of WS type II (WS2 cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the MITF gene of 20 Chinese WS2 patients from 14 families. A high level of clinical variability was identified. Sensorineural hearing loss (17/20, 85.0% and heterochromia iridum (20/20, 100.0% were the most commonly observed clinical features in Chinese WS2 patients. Five affected individuals (5/20, 25.0% had numerous brown freckles on the face, trunk, and limb extremities. Mutation screening of the MITF gene identified five mutations: c.20A>G, c.332C>T, c.647_649delGAA, c.649A>G, and c.763C>T. The total mutational frequency of the MITF gene was 21.4% (3/14, which is significantly higher than the 15.0% observed in the fair-skinned WS2 population. Our results indicate that MITF mutations are relatively common among Chinese WS2 patients.

Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

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Yang, Shuzhi; Dai, Pu; Liu, Xin; Kang, Dongyang; Zhang, Xin; Yang, Weiyan; Zhou, Chengyong; Yang, Shiming; Yuan, Huijun

2013-01-01

Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the MITF gene of 20 Chinese WS2 patients from 14 families. A high level of clinical variability was identified. Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients. Five affected individuals (5/20, 25.0%) had numerous brown freckles on the face, trunk, and limb extremities. Mutation screening of the MITF gene identified five mutations: c.20A>G, c.332C>T, c.647_649delGAA, c.649A>G, and c.763C>T. The total mutational frequency of the MITF gene was 21.4% (3/14), which is significantly higher than the 15.0% observed in the fair-skinned WS2 population. Our results indicate that MITF mutations are relatively common among Chinese WS2 patients. PMID:24194866

Depressive symptoms in Chinese family caregivers of patients with heart failure

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Hu, Xiaolin; Huang, Wenxia; Su, Yonglin; Qu, Moying; Peng, Xingchen

2017-01-01

Abstract Depressive symptoms are related to negative health outcomes in caregivers of patients with HF. Understanding the factors that are associated with depressive symptoms among caregivers is essential to providing appropriate interventions. Little is known about which status and factors are related to depressive symptoms among Chinese caregivers of patients with heart failure. This study aimed to investigate the status of depressive symptoms and to identify the factors that are associated with depressive symptoms in family caregivers of patients with heart failure in China. A cross-sectional design and a convenience sample were used. Participants (N = 134) from 1 hospital in Chengdu were recruited from June 2013 to June 2014. The following measurement tools were used in this study: Center for Epidemiologic Studies Depression Scale, Hospital Anxiety and Depression Scale, Coping Strategies Simplified Coping Style Questionnaire, and Zarit Burden Interview. A hierarchical multiple linear regression analysis was used to determine which factors were associated with depressive symptoms. The results showed that 31% of the caregivers experienced depressive symptoms. The type of payment for treatment (b = −0.312, P caregiving (b = −0.213, P caregiver burden (b = 0.299, P caregivers’ depressive symptoms. Fifty-four percent of the variance in caregivers’ depressive symptoms was explained by these factors. The caregiver depressive symptoms in China were higher than those reported in studies that were conducted in Western countries. Caregiver depressive symptoms can be improved by providing support for new caregivers (with a caregiving duration of less than 1 year), reducing readmissions, easing caregiver burden, and promoting their coping strategies. PMID:28353589

Association between Work-Family Conflict and Depressive Symptoms among Chinese Female Nurses: The Mediating and Moderating Role of Psychological Capital

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Junhui Hao

2015-06-01

Full Text Available Depressive symptoms have been in the limelight for many kinds of people, but few studies have explored positive resources for combating depressive symptoms among Chinese nurses. The purpose of this study is to explore the association between work-family conflict (WFC and depressive symptoms among Chinese female nurses, along with the mediating and moderating role of psychological capital (PsyCap in this relationship. This cross-sectional study was completed during the period of September and October 2013. A questionnaire that consisted of the Center for Epidemiologic Studies Depression Scale, the Work-Family Conflict scale and the Psychological Capital Questionnair scale was distributed to nurses in Shenyang, China. A total of 824 individuals (effective response rate: 74.9% participated. Asymptotic and resampling strategies explored the mediating role of PsyCap in the relationship between WFC and depressive symptoms. Hierarchical linear regression analyses were performed to explore the moderating role of PsyCap. Both WFC and family-work conflict (FWC were positively related with depressive symptoms. PsyCap positively moderated the relationship of WFC with depressive symptoms. Self-efficacy and hope positively moderated the relationship of WFC with depressive symptoms. PsyCap partially mediated the relationship of FWC with depressive symptoms. Hope and optimism partially mediated the relationship of FWC with depressive symptoms. Work-family conflict, as the risk factor of depressive symptoms, can increase nurses’ depressive symptoms, and PsyCap is a positive resource to combat nurses’ depressive symptoms. PsyCap can aggravate the effects of WFC on depressive symptoms and FWC can impact PsyCap to increase nurses’ depressive symptoms.

Association between Work-Family Conflict and Depressive Symptoms among Chinese Female Nurses: The Mediating and Moderating Role of Psychological Capital

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Hao, Junhui; Wu, Di; Liu, Li; Li, Xirui; Wu, Hui

2015-01-01

Depressive symptoms have been in the limelight for many kinds of people, but few studies have explored positive resources for combating depressive symptoms among Chinese nurses. The purpose of this study is to explore the association between work-family conflict (WFC) and depressive symptoms among Chinese female nurses, along with the mediating and moderating role of psychological capital (PsyCap) in this relationship. This cross-sectional study was completed during the period of September and October 2013. A questionnaire that consisted of the Center for Epidemiologic Studies Depression Scale, the Work-Family Conflict scale and the Psychological Capital Questionnair scale was distributed to nurses in Shenyang, China. A total of 824 individuals (effective response rate: 74.9%) participated. Asymptotic and resampling strategies explored the mediating role of PsyCap in the relationship between WFC and depressive symptoms. Hierarchical linear regression analyses were performed to explore the moderating role of PsyCap. Both WFC and family-work conflict (FWC) were positively related with depressive symptoms. PsyCap positively moderated the relationship of WFC with depressive symptoms. Self-efficacy and hope positively moderated the relationship of WFC with depressive symptoms. PsyCap partially mediated the relationship of FWC with depressive symptoms. Hope and optimism partially mediated the relationship of FWC with depressive symptoms. Work-family conflict, as the risk factor of depressive symptoms, can increase nurses’ depressive symptoms, and PsyCap is a positive resource to combat nurses’ depressive symptoms. PsyCap can aggravate the effects of WFC on depressive symptoms and FWC can impact PsyCap to increase nurses’ depressive symptoms. PMID:26075725

Association between Work-Family Conflict and Depressive Symptoms among Chinese Female Nurses: The Mediating and Moderating Role of Psychological Capital.

Science.gov (United States)

Hao, Junhui; Wu, Di; Liu, Li; Li, Xirui; Wu, Hui

2015-06-12

Depressive symptoms have been in the limelight for many kinds of people, but few studies have explored positive resources for combating depressive symptoms among Chinese nurses. The purpose of this study is to explore the association between work-family conflict (WFC) and depressive symptoms among Chinese female nurses, along with the mediating and moderating role of psychological capital (PsyCap) in this relationship. This cross-sectional study was completed during the period of September and October 2013. A questionnaire that consisted of the Center for Epidemiologic Studies Depression Scale, the Work-Family Conflict scale and the Psychological Capital Questionnair scale was distributed to nurses in Shenyang, China. A total of 824 individuals (effective response rate: 74.9%) participated. Asymptotic and resampling strategies explored the mediating role of PsyCap in the relationship between WFC and depressive symptoms. Hierarchical linear regression analyses were performed to explore the moderating role of PsyCap. Both WFC and family-work conflict (FWC) were positively related with depressive symptoms. PsyCap positively moderated the relationship of WFC with depressive symptoms. Self-efficacy and hope positively moderated the relationship of WFC with depressive symptoms. PsyCap partially mediated the relationship of FWC with depressive symptoms. Hope and optimism partially mediated the relationship of FWC with depressive symptoms. Work-family conflict, as the risk factor of depressive symptoms, can increase nurses' depressive symptoms, and PsyCap is a positive resource to combat nurses' depressive symptoms. PsyCap can aggravate the effects of WFC on depressive symptoms and FWC can impact PsyCap to increase nurses' depressive symptoms.

Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3.

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Yanping Lu

Full Text Available Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. Here we report the development and the first clinical application of the PGD for this MKS3 family. Molecular analysis protocol for clinical PGD procedure was established using 50 single cells in pre-clinical set-up. After whole genomic amplification by multiple displacement amplification with the DNA from single cells, three techniques were applied simultaneously to increase the accuracy and reliability of genetic diagnosis in single blastomere, including real-time PCR with Taq Man-MGB probe, haplotype analysis with polymorphic STR markers and Sanger sequencing. In the clinical PGD cycle, nine embryos at cleavage-stage were biopsied and subjected to genetic diagnosis. Two embryos diagnosed as free of TMEM67 mutation were transferred and one achieving normal pregnancy. Non-invasive prenatal assessment of trisomy 13, 18 and 21 by multiplex DNA sequencing at 18 weeks' gestation excluded the aneuploidy of the analyzed chromosomes. A healthy boy was delivered by cesarean section at 39 weeks' gestation. DNA sequencing from his cord blood confirmed the result of genetic analysis in the PGD cycle. The protocol developed in this study was proved to be rapid and safe for the detection of monogenic mutations in clinical PGD cycle.

Psychometric Testing of Two Chinese-Version Scales on Attitudes Toward and Caregiving Behaviors for End-of-Life Patients and Families.

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Yang, Luke; Liu, Yung-Fang; Sun, Huey-Fang; Chiang, Hsien-Hsien; Tsai, Yu-Lun; Liaw, Jen-Jiuan

2017-03-01

The study purpose was to examine the validities and reliabilities of the Chinese-versions Frommelt Attitudes Toward Care of the Dying Scale (Attitudes Scale) and Caregiving Behaviors Scale for End-of-Life Patients and Families (Behaviors Scale). The scales were tested in a convenience sample of 318 nurses with ≥6 months work experience at three hospitals. Cronbach's alphas of the Attitudes and Behaviors Scales were .90 and .96, respectively. Each scale had Kaiser-Meyer-Olkin index >.85 and Bartlett's test of sphericity >4000 ( p < .001). Attitudes Scale loaded on three factors: respecting and caring for dying patients and families, avoiding care of the dying, and involving patients and families in end-of-life care. The Behaviors Scale loaded on two factors: supporting dying patients and families, and helping families cope with grief. Factor loadings for both scales were ≥.49. Both Attitudes and Behaviors Scales are reliable and valid for evaluating nurses' attitudes and caregiving behaviors for the dying.

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.

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Sun, Tengyang; Xu, Ke; Ren, Yanfan; Xie, Yue; Zhang, Xiaohui; Tian, Lu; Li, Yang

2018-03-01

Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. The objectives of this study were to determine the mutation spectrum in a cohort of Chinese patients with USH and to describe the clinical features of the patients with mutations. A total of 119 probands who were clinically diagnosed with USH were recruited for genetic analysis. All probands underwent ophthalmic examinations. A combination of molecular screening methods, including targeted next-generation sequencing, Sanger-DNA sequencing, and multiplex ligation probe amplification assay, was used to detect mutations. We found biallelic mutations in 92 probands (77.3%), monoallelic mutations in 5 patients (4.2%), and 1 hemizygous mutation in 1 patient (0.8%), resulting in an overall mutation detection rate of 78.2%. Overall, 132 distinct disease-causing mutations involving seven USH (ABHD12, CDH23, GPR98, MYO7A, PCDH15, USH1C, and USH2A) genes; 5 other retinal degeneration genes (CHM, CNGA1, EYS, PDE6B, and TULP1); and 1 nonsyndromic hearing loss gene (MYO15A) were identified, and 78 were novel. Mutations of MYOA7 were responsible for 60% of USH1 families, followed by PCDH15 (20%) and USH1C (10%). Mutations of USH2A accounted for 67.7% of USH2 families, and mutation c.8559-2A>G was the most frequent one, accounting for 19.1% of the identified USH2A alleles. Our results confirm that the mutation spectrum for each USH gene in Chinese patients differs from those of other populations. The formation of the mutation profile for the Chinese population will enable a precise genetic diagnosis for USH patients in the future.

[Analysis of USH2A gene mutation in a Chinese family affected with Usher syndrome].

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Li, Pengcheng; Liu, Fei; Zhang, Mingchang; Wang, Qiufen; Liu, Mugen

2015-08-01

To investigate the disease-causing mutation in a Chinese family affected with Usher syndrome type II. All of the 11 members from the family underwent comprehensive ophthalmologic examination and hearing test, and their genomic DNA were isolated from venous leukocytes. PCR and direct sequencing of USH2A gene were performed for the proband. Wild type and mutant type minigene vectors containing exon 42, intron 42 and exon 43 of the USH2A gene were constructed and transfected into Hela cells by lipofectamine reagent. Reverse transcription (RT)-PCR was carried out to verify the splicing of the minigenes. Pedigree analysis and clinical diagnosis indicated that the patients have suffered from autosomal recessive Usher syndrome type II. DNA sequencing has detected a homozygous c.8559-2A>G mutation of the USH2A gene in the proband, which has co-segregated with the disease in the family. The mutation has affected a conserved splice site in intron 42, which has led to inactivation of the splice site. Minigene experiment has confirmed the retaining of intron 42 in mature mRNA. The c.8559-2A>G mutation in the USH2A gene probably underlies the Usher syndrome type II in this family. The splice site mutation has resulted in abnormal splicing of USH2A pre-mRNA.

Comparing Chinese and European American mental health decision making.

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Gao, Shanshan; Corrigan, Patrick W; Qin, Sang; Nieweglowski, Katherine

2017-12-20

Shared decision making (SDM) tends to reflect more Western values of individualism and empowerment, values that may be foreign to East Asian healthcare preferences for collectivism and family involvement: family centered decision making (FCDM). To show that Chinese will be more likely to believe FCDM would be more pleasing for them if they were the patient. Conversely, European Americans will respond more favorably to SDM. To examine effects of Western acculturation on FCDM compared to SDM. In this study, preferences for FCDM versus SDM and doctor-led decision making (DrDM) were examined in a vignette study completed online by European Americans (n = 298) and Chinese (n = 327). Research participants read a vignette about Lily (a depression patient) presenting with symptoms of depression. After reading the vignette, participants completed items representing two sets of outcomes: three perceptions of impact on Lily and how participants might respond for themselves in a similar decision making situation. Chinese rated FCDM greater than European and Chinese Americans. Chinese Americans mostly responded similar to European Americans and not Chinese. European Americans prefer SDM more for mental health services. Chinese value FCDM more than European Americans. Preferences of Chinese living in America seem to parallel European Americans.

An integrated system for identifying the hidden assassins in traditional medicines containing aristolochic acids

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Wu, Lan; Sun, Wei; Wang, Bo; Zhao, Haiyu; Li, Yaoli; Cai, Shaoqing; Xiang, Li; Zhu, Yingjie; Yao, Hui; Song, Jingyuan; Cheng, Yung-Chi; Chen, Shilin

2015-08-01

Traditional herbal medicines adulterated and contaminated with plant materials from the Aristolochiaceae family, which contain aristolochic acids (AAs), cause aristolochic acid nephropathy. Approximately 256 traditional Chinese patent medicines, containing Aristolochiaceous materials, are still being sold in Chinese markets today. In order to protect consumers from health risks due to AAs, the hidden assassins, efficient methods to differentiate Aristolochiaceous herbs from their putative substitutes need to be established. In this study, 158 Aristolochiaceous samples representing 46 species and four genera as well as 131 non-Aristolochiaceous samples representing 33 species, 20 genera and 12 families were analyzed using DNA barcodes based on the ITS2 and psbA-trnH sequences. Aristolochiaceous materials and their non-Aristolochiaceous substitutes were successfully identified using BLAST1, the nearest distance method and the neighbor-joining (NJ) tree. In addition, based on sequence information of ITS2, we developed a Real-Time PCR assay which successfully identified herbal material from the Aristolochiaceae family. Using Ultra High Performance Liquid Chromatography-Mass Spectrometer (UHPLC-HR-MS), we demonstrated that most representatives from the Aristolochiaceae family contain toxic AAs. Therefore, integrated DNA barcodes, Real-Time PCR assays using TaqMan probes and UHPLC-HR-MS system provides an efficient and reliable authentication system to protect consumers from health risks due to the hidden assassins (AAs).

Familial risks and estrogen receptor-positive breast cancer in Hong Kong Chinese women.

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Tse, Lap Ah; Li, Mengjie; Chan, Wing-cheong; Kwok, Chi-hei; Leung, Siu-lan; Wu, Cherry; Yu, Ignatius Tak-sun; Yu, Wai-cho; Lao, Xiangqian; Wang, Xiaorong; Wong, Carmen Ka-man; Lee, Priscilla Ming-yi; Wang, Feng; Yang, Xiaohong Rose

2015-01-01

The role of family history to the risk of breast cancer was analyzed by incorporating menopausal status in Hong Kong Chinese women, with a particular respect to the estrogen receptor-positive (ER+) type. Seven hundred and forty seven breast cancer incident cases and 781 hospital controls who had completed information on family cancer history in first-degree relatives (nature father, mother, and siblings) were recruited. Odds ratio for breast cancer were calculated by unconditional multiple logistic regression, stratified by menopausal status (a surrogate of endogenous female sex hormone level and age) and type of relative affected with the disease. Further subgroup analysis by tumor type according to ER status was investigated. Altogether 52 (6.96%) breast cancer cases and 23 (2.95%) controls was found that the patients' one or more first-degree relatives had a history of breast cancer, showing an adjusted odds ratio (OR) of 2.41 (95%CI: 1.45-4.02). An excess risk of breast cancer was restricted to the ER+ tumor (OR = 2.43, 95% CI: 1.38-4.28), with a relatively higher risk associated with an affected mother (OR = 3.97, 95%CI: 1.46-10.79) than an affected sister (OR = 2.06, 95%CI: 1.07-3.97), while the relative risk was more prominent in the subgroup of pre-menopausal women. Compared with the breast cancer overall, the familial risks to the ER+ tumor increased progressively with the number of affected first-degree relatives. This study provides new insights on a relationship between family breast cancer history, menopausal status, and the ER+ breast cancer. A separate risk prediction model for ER+ tumor in Asian population is desired.

The Effect of Implicit–Explicit Followership Congruence on Benevolent Leadership: Evidence from Chinese Family Firms

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Wang, Xiao; Peng, Jian

2016-01-01

Benevolent leadership, a traditional Chinese leadership style generated under the influence of Confucianism, has been under growing discussion since its proposal. However, existing research has focused mainly on the consequences of benevolent leadership, and research probing into its antecedents is scarce. To fill such research gap, the current study aims to explore the effect of the congruence between implicit positive followership prototype (PFP) and explicit positive followership trait (PFT) on benevolent leadership. Polynomial regression combined with the response surface methodology was used to test the hypotheses herein. The results, based on a sample of 241 leader–follower dyads from four Chinese family firms, indicated the following: (1) benevolent leadership is higher when leader PFP is congruent with follower PFT than when they are incongruent; (2) in cases of congruence, benevolent leadership is higher when leader PFP and follower PFT are both high rather than low; (3) in the case of incongruence, there is no significant difference for the level of benevolent leadership in two scenarios: “low leader PFP – high follower PFT” and “high leader PFP – low follower PFT”. PMID:27375514

Young Chinese Children's Anger and Distress: Emotion Category and Intensity Identified by the Time Course of Behaviors

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He, Jie; Qiu, Peihua; Park, Ka Young; Xu, Qinmei; Potegal, Michael

2013-01-01

A hierarchical cluster analysis of the time course of the videotaped reactions of 75 Chinese 2-4-year olds to mothers' toy-removal identified Distress, Low Anger, and High Anger behavior clusters. Anger often begins at low intensity; some children then escalate. The face-validity of Low and High Anger-cluster classifications was supported in that…

Acculturation and its implications on parenting for Chinese immigrants: a systematic review.

Science.gov (United States)

Ho, Grace W K

2014-04-01

To systematically review and synthesize existing findings on acculturation and its implications on parenting for Chinese immigrants. Three electronic databases were searched for original research articles that examined acculturation and its influence on parenting in Chinese immigrants. Twenty-two studies were included. Findings suggest that acculturation influences parenting beliefs, attitudes, and practices, as well as parent-child relationships among Chinese immigrants. Acculturation discrepancies between parents and children are associated with negative child outcomes. Further research is needed to better understand the relationships among acculturation and parenting perceptions, parent-child relationships, and parent-child acculturation discrepancies and associated child outcomes. In particular, longitudinal studies with larger samples and multiple methods are needed to suggest causal inferences and validate these relationships. Nurses are at the unique junction to identify these problems through interacting with individuals and families at the clinical and mental/community health levels.

Feasibility of identifying families for genetic studies of birth defects using the National Health Interview Survey

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Nolan Vikki G

2004-05-01

Full Text Available Abstract Background The purpose of this study was to determine whether the National Health Interview Survey is a useful source to identify informative families for genetic studies of birth defects. Methods The 1994/1995 National Health Interview Survey (NHIS was used to identify households where individuals with two or more birth defects reside. Four groups of households were identified: 1 single non-familial (one individual with one birth defect; 2 single familial (more than one individual with one birth defect; 3 multiple non-familial (one individual with more than one birth defect, and 4 multiple familial (more than one individual with more than one birth defect. The March 2000 U.S. Census on households was used to estimate the total number of households in which there are individuals with birth defects. Results Of a total of 28,094 households and surveyed about birth defects and impairments, 1,083 single non-familial, 55 multiple non-familial, 54 single familial, and 8 multiple familial households were identified. Based on the 2000 U.S. census, it is estimated that there are 4,472,385 households where at least one person has one birth defect in the United States and in 234,846 of them there are at least two affected individuals. Western states had the highest prevalence rates. Conclusions Population-based methods, such as the NHIS, are modestly useful to identify the number and the regions where candidate families for genetic studies of birth defects reside. Clinic based studies and birth defects surveillance systems that collect family history offer better probability of ascertainment.

A Fuzzy Computing Model for Identifying Polarity of Chinese Sentiment Words

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Bingkun Wang

2015-01-01

Full Text Available With the spurt of online user-generated contents on web, sentiment analysis has become a very active research issue in data mining and natural language processing. As the most important indicator of sentiment, sentiment words which convey positive and negative polarity are quite instrumental for sentiment analysis. However, most of the existing methods for identifying polarity of sentiment words only consider the positive and negative polarity by the Cantor set, and no attention is paid to the fuzziness of the polarity intensity of sentiment words. In order to improve the performance, we propose a fuzzy computing model to identify the polarity of Chinese sentiment words in this paper. There are three major contributions in this paper. Firstly, we propose a method to compute polarity intensity of sentiment morphemes and sentiment words. Secondly, we construct a fuzzy sentiment classifier and propose two different methods to compute the parameter of the fuzzy classifier. Thirdly, we conduct extensive experiments on four sentiment words datasets and three review datasets, and the experimental results indicate that our model performs better than the state-of-the-art methods.

A Fuzzy Computing Model for Identifying Polarity of Chinese Sentiment Words

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Huang, Yongfeng; Wu, Xian; Li, Xing

2015-01-01

With the spurt of online user-generated contents on web, sentiment analysis has become a very active research issue in data mining and natural language processing. As the most important indicator of sentiment, sentiment words which convey positive and negative polarity are quite instrumental for sentiment analysis. However, most of the existing methods for identifying polarity of sentiment words only consider the positive and negative polarity by the Cantor set, and no attention is paid to the fuzziness of the polarity intensity of sentiment words. In order to improve the performance, we propose a fuzzy computing model to identify the polarity of Chinese sentiment words in this paper. There are three major contributions in this paper. Firstly, we propose a method to compute polarity intensity of sentiment morphemes and sentiment words. Secondly, we construct a fuzzy sentiment classifier and propose two different methods to compute the parameter of the fuzzy classifier. Thirdly, we conduct extensive experiments on four sentiment words datasets and three review datasets, and the experimental results indicate that our model performs better than the state-of-the-art methods. PMID:26106409

Functional Pathways of Social Support for Mental Health in Work and Family Domains Among Chinese Scientific and Technological Professionals.

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Gan, Yiqun; Gan, Tingting; Chen, Zhiyan; Miao, Miao; Zhang, Kan

2015-10-01

This study investigated the role of social support in the complex pattern of associations among stressors, work-family interferences and depression in the domains of work and family. A questionnaire was administered to a nationwide sample of 11,419 Chinese science and technology professionals. Several structural equation models were specified to determine whether social support functioned as a predictor or a mediator. Using Mplus 5.0, we compared the moderation model, the independence model, the antecedent model and the mediation model. The results revealed that the relationship between work-family interference and social support was domain specific. The independence model fit the data best in the work domain. Both the moderation model and the antecedent model fit the family domain data equally well. The current study was conducted to answer the need for comprehensive investigations of cultural uniqueness in the antecedents of work-family interference. The domain specificity, i.e. the multiple channels of the functions of support in the family domain and not in the work domain, ensures that this study is unique and culturally specific. Copyright © 2014 John Wiley & Sons, Ltd.

Differences in lifestyle behaviors, dietary habits, and familial factors among normal-weight, overweight, and obese Chinese children and adolescents.

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Guo, Xiaofan; Zheng, Liqiang; Li, Yang; Yu, Shasha; Sun, Guozhe; Yang, Hongmei; Zhou, Xinghu; Zhang, Xingang; Sun, Zhaoqing; Sun, Yingxian

2012-10-02

Pediatric obesity has become a global public health problem. Data on the lifestyle behaviors, dietary habits, and familial factors of overweight and obese children and adolescents are limited. The present study aims to compare health-related factors among normal-weight, overweight, and obese Chinese children and adolescents. We conducted a cross-sectional study consisted of 4262 children and adolescents aged 5-18 years old from rural areas of the northeast China. Anthropometric measurements and self-reported information on health-related variables, such as physical activities, sleep duration, dietary habits, family income, and recognition of weight status from the views of both children and parents, were collected by trained personnel. The prevalence rates of overweight and obesity were 15.3 and 6.4%, respectively. Compared to girls, boys were more commonly overweight (17.5% vs. 12.9%) and obese (9.5% vs. 3.1%). Approximately half of the parents with an overweight or obese child reported that they failed to recognize their child's excess weight status, and 65% of patients with an overweight child reported that they would not take measures to decrease their child's body weight. Obese children and adolescents were more likely to be nonsnackers [odds ratio (OR): 1.348; 95% confidence interval (CI): 1.039-1.748] and to have a family income of 2000 CNY or more per month (OR: 1.442; 95% CI: 1.045-1.99) and less likely to sleep longer (≥7.5 h) (OR: 0.475; 95% CI: 0.31-0.728) than the normal-weight participants. Our study revealed a high prevalence of overweight and obesity in a large Chinese pediatric population. Differences in sleep duration, snacking, family income, and parental recognition of children's weight status among participants in different weight categories were observed, which should be considered when planning prevention and treatment programs for pediatric obesity.

Genome-Wide Identification, Evolution and Functional Divergence of MYB Transcription Factors in Chinese White Pear (Pyrus bretschneideri).

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Li, Xiaolong; Xue, Cheng; Li, Jiaming; Qiao, Xin; Li, Leiting; Yu, Li'ang; Huang, Yuhua; Wu, Jun

2016-04-01

The MYB superfamily is large and functionally diverse in plants. To date, MYB family genes have not yet been identified in Chinese white pear (Pyrus bretschneideri), and their functions remain unclear. In this study, we identified 231 genes as candidate MYB genes and divided them into four subfamilies. The R2R3-MYB (PbrMYB) family shared an R2R3 domain with 104 amino acid residues, including five conserved tryptophan residues. The Pbr MYB family was divided into 37 functional subgroups including 33 subgroups which contained both MYB genes of Rosaceae plants and AtMYB genes, and four subgroups which included only Rosaceae MYB genes or AtMYB genes. PbrMYB genes with similar functions clustered into the same subgroup, indicating functional conservation. We also found that whole-genome duplication (WGD) and dispersed duplications played critical roles in the expansion of the MYB family. The 87 Pbr MYB duplicated gene pairs dated back to the two WGD events. Purifying selection was the primary force driving Pbr MYB gene evolution. The 15 gene pairs presented 1-7 codon sites under positive selection. A total of 147 expressed genes were identified from RNA-sequencing data of fruit, and six Pbr MYB members in subgroup C1 were identified as important candidate genes in the regulation of lignin synthesis by quantitative real-time PCR analysis. Further correlation analysis revealed that six PbrMYBs were significantly correlated with five structural gene families (F5H, HCT, CCR, POD and C3'H) in the lignin pathway. The phylogenetic, evolution and expression analyses of the MYB gene family in Chinese white pear establish a solid foundation for future comprehensive functional analysis of Pbr MYB genes. © The Author 2016. Published by Oxford University Press on behalf of Japanese Society of Plant Physiologists. All rights reserved. For permissions, please email: journals.permissions@oup.com.

Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss

International Nuclear Information System (INIS)

Zhao Lidong; Wang Qiuju; Qian Yaping; Li Ronghua; Cao Juayng; Hart, Laura Christine; Zhai Suoqiang; Han Dongyi; Young Wieyen; Guan Minxin

2005-01-01

We report here the clinical, genetic, and molecular characterization of two Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects. Penetrances of hearing loss in BJ105 and BJ106 pedigrees are 67% and 33%, respectively. In particular, three of 10 affected matrilineal relatives of BJ105 pedigree had aminoglycoside-induced hearing loss, while seven affected matrilineal relatives in BJ105 pedigree and six affected matrilineal relatives in BJ106 pedigree did not have a history of exposure to aminoglycosides. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the identical homoplasmic A1555G mutation and distinct sets of mtDNA variants belonging to haplogroups F3 and M7b. These variants showed no evolutionary conservation, implying that mitochondrial haplotype may not play a significant role in the phenotypic expression of the A1555G mutation in these Chinese pedigrees. However, aminoglycosides and nuclear backgrounds appear to be major modifier factors for the phenotypic manifestation of the A1555G mutation in these Chinese families

Trajectories of quality of life among Chinese patients diagnosed with nasopharynegeal cancer.

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Wendy W T Lam

Full Text Available OBJECTIVE: This secondary longitudinal analysis describes distinct quality of life trajectories during eight months of radiation therapy (RT among patients with nasopharyngeal cancer (NPC and examines factors differentiating these trajectories. METHODS: 253 Chinese patients with NPC scheduled for RT were assessed at pre-treatment, and 4 months and 8 months later on QoL (Chinese version of the FACT-G, optimism, pain, eating function, and patient satisfaction. Latent growth mixture modelling identified different trajectories within each of four QoL domains: Physical, Emotional, Social/family, and Functional well-being. Multinomial logistic regression compared optimism, pain, eating function, and patient satisfaction by trajectories adjusted for demographic and medical characteristics. RESULTS: We identified three distinct trajectories for physical and emotional QoL domains, four trajectories for social/family, and two trajectories for functional domains. Within each domain most patients (physical (77%, emotional (85%, social/family (55% and functional (63% experienced relatively stable high levels of well-being over the 8-month period. Different Physical trajectory patterns were predicted by pain and optimism, whereas for Emotion-domain trajectories pain, optimism, eating enjoyment, patient satisfaction with information, and gender were predictive. Age, appetite, optimism, martial status, and household income predicted Social/family trajectories; household income, eating enjoyment, optimism, and patient satisfaction with information predicted Functional trajectories. CONCLUSION: Most patients with NPC showed high stable QoL during radiotherapy. Optimism predicted good QoL. Symptom impacts varied by QoL domain. Information satisfaction was protective in emotional and functional well-being, reflecting the importance in helping patients to establish a realistic expectation of treatment impacts.

A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

DEFF Research Database (Denmark)

Xiao, Cuiying; Zhang, Sizhong; Wang, Jun

2003-01-01

. The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA...... sequencing, a previously unreported deletion of T in exon 5 of SEDL gene (i.e. 293delT) was observed and seven individuals in the family carried the mutation. It results in frameshift and a putative truncated protein with the 97 N-terminal amino acids, and 9 changed amino acids. Therefore, loss of function...

Chinese Family:Some New Trends

Institute of Scientific and Technical Information of China (English)

Alice Yang

2011-01-01

It is a familiar sight in many Chinese cities to witness a large team escorting a baby pram in public:mother,grandmothers,ayi (nanny),another ayi maybe,grandfathers quiet possible,and finally father if you are lucky.Yes,after China's implementation of “One Child Only” policy in the late of 1970s,it's the time for the baby boom generation to create another round of baby boom.The babies get so much attention and love from their 4grandparents,2 parents,and more ayis.Whilst it once was very common for grandparents to take care of the baby and toddler at home when both parents are at work,now the trend is changing slightly.

Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

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A-ping Sun

2015-01-01

Full Text Available Charcot-Marie-Tooth disease type 1A (CMT1A is caused by duplication of the peripheral myelin protein 22 (PMP22 gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases.

Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.

Science.gov (United States)

Zhao, Xin; Yang, Chaoshan; Tong, Yi; Zhang, Xiaohui; Xu, Liang; Li, Yang

2010-08-25

To describe the clinical and genetic findings in one Chinese family with juvenile-onset open angle glaucoma (JOAG). One family was examined clinically and a follow-up took place 5 years later. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Linkage analysis was performed with three microsatellite markers around the MYOC gene (D1S196, D1S2815, and D1S218) in the family. Mutation screening of all coding exons of MYOC was performed by direct sequencing of PCR-amplified DNA fragments and restriction fragment length polymorphism (RFLP) analysis. Bioinformatics analysis by the Garnier-Osguthorpe-Robson (GOR) method predicted the effects of variants detected on secondary structures of the MYOC protein. Clinical examination and pedigree analysis revealed a three- generation family with seven members diagnosed with JOAG, three with ocular hypertension, and five normal individuals. Through genotyping, the pedigree showed a linkage to the MYOC on chromosome 1q24-25. Mutation screening of MYOC in this family revealed an A-->T transition at position 1348 (p. N450Y) of the cDNA sequence. This missense mutation co-segregated with the disease phenotype of the family, but was not found in 100 normal controls. Secondary structure prediction of the p.N450Y by the GOR method revealed the replacement of a coil with a beta sheet at the amino acid 447. Early onset JOAG, with incomplete penetrance, is consistent with a novel mutation in MYOC. The finding provides pre-symptomatic molecular diagnosis for the members of this family and is useful for further genetic consultation.

The willingness and actual situation of Chinese cancer patients and their family members participating in medical decision-making.

Science.gov (United States)

Zhang, Jie; Yang, Dan; Deng, Yaotiao; Wang, Ying; Deng, Lei; Luo, Xinmei; Zhong, Wuning; Liu, Jie; Wang, Yuqing; Jiang, Yu

2015-12-01

In China, not only patients and physicians are involved in medical decision-making (MDM) but also the patients' family members. The objective is to investigate the willingness and actual situation of cancer patients and their family members participating in the MDM process. In this cross-sectional study, questionnaires were administered to 247 pairs of cancer inpatients and their relatives. Information regarding participants' willingness and actual experience during the decision-making process was documented. Eligible participants were cancer inpatients or their relatives, 18 years of age or older, and informed of the cancer diagnosis. All the patients should have received chemotherapy. The effective response rate was 72.9% (180/247). Over half of the patients (53.3%) and family members (57.8%) were willing to be part of the MDM process. In contrast, only 35.0% of patients and 46.1% of family members actually experienced this process (p = 0.001 and p = 0.011, respectively). Fewer family members (42.2%) than patients (53.3%) believed that patients should be involved in the MDM process (p family (odds ratio 2.577, 95% CI 1.198-5.556, p = 0.015) experienced more involvement in MDM. Although more than half of Chinese cancer patients and family members wanted to be part of MDM, the actual participation was below their expectation. Majority of family members do not want the patients to be involved in the process of MDM. Copyright © 2015 John Wiley & Sons, Ltd.

Chinese immigrants’ parental experiences in Norway

OpenAIRE

Zhu, Hong

2015-01-01

European Master in Social Work with Families and Children Existing empirical studies of parents in China found that this population presents features of authoritarian parenting style: greater parental demands and control together with lower parental responsiveness. However, when the investigation conducted on Chinese immigrants, parental practice is characterized as more authoritative style, combining high levels of controlling and responsiveness. Paradoxical findings between Chinese paren...

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

OpenAIRE

Hu, H.; Haas, S.A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A.P.M.; Weinert, S.; Froyen, G.; Frints, S.G.M.; Laumonnier, F.; Zemojtel, T.; Love, M.I.; Richard, H.; Emde, A.K.; Bienek, M.

2016-01-01

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of ...

Familial risks and estrogen receptor-positive breast cancer in Hong Kong Chinese women.

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Lap Ah Tse

Full Text Available The role of family history to the risk of breast cancer was analyzed by incorporating menopausal status in Hong Kong Chinese women, with a particular respect to the estrogen receptor-positive (ER+ type.Seven hundred and forty seven breast cancer incident cases and 781 hospital controls who had completed information on family cancer history in first-degree relatives (nature father, mother, and siblings were recruited. Odds ratio for breast cancer were calculated by unconditional multiple logistic regression, stratified by menopausal status (a surrogate of endogenous female sex hormone level and age and type of relative affected with the disease. Further subgroup analysis by tumor type according to ER status was investigated.Altogether 52 (6.96% breast cancer cases and 23 (2.95% controls was found that the patients' one or more first-degree relatives had a history of breast cancer, showing an adjusted odds ratio (OR of 2.41 (95%CI: 1.45-4.02. An excess risk of breast cancer was restricted to the ER+ tumor (OR = 2.43, 95% CI: 1.38-4.28, with a relatively higher risk associated with an affected mother (OR = 3.97, 95%CI: 1.46-10.79 than an affected sister (OR = 2.06, 95%CI: 1.07-3.97, while the relative risk was more prominent in the subgroup of pre-menopausal women. Compared with the breast cancer overall, the familial risks to the ER+ tumor increased progressively with the number of affected first-degree relatives.This study provides new insights on a relationship between family breast cancer history, menopausal status, and the ER+ breast cancer. A separate risk prediction model for ER+ tumor in Asian population is desired.

Experiences of Social and Structural Forms of Stigma Among Chinese Immigrant Consumers with Psychosis.

Science.gov (United States)

Cheng, Zhen Hadassah; Tu, Ming-Che; Li, Vanessa A; Chang, Rachel W; Yang, Lawrence Hsin

2015-12-01

Chinese immigrants tend to rely on family and close community for support given their vulnerable societal position. Yet stigma, especially from structural and familial sources, may have a particularly harmful impact upon Chinese immigrants with psychosis. Using a descriptive analysis based upon grounded theory, we examined stigma experiences of 50 Chinese immigrant consumers with psychosis, paying particular attention to frequency, sources, and themes of social and structural stigma. Although past research indicates that family is a recipient of stigma, we found instead that family members were common perpetuators of social forms of stigma. We also found that perceptions of work deficit underlie many forms of stigma, suggesting this is "what matters most" in this community. Lack of financial resources and language barriers comprised most frequent forms of structural stigma. Anti-stigma efforts should aim to improve consumer's actual and perceived employability to target what is most meaningful in Chinese immigrant communities.

Genome-wide scan identifies variant in TNFSF13 associated with serum IgM in a healthy Chinese male population.