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Sample records for four-generation chinese family

  1. 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...

  2. Four Generations of Women's Educational Experience in a Rural Chinese Community

    Science.gov (United States)

    Huang, Haigen; Placier, Peggy

    2015-01-01

    Our study sought to understand changes in gender inequality in education across four generations of rural Chinese women's educational experiences in a small community in southern China. The 24 interviews and numerous informal conversations with 12 women showed that gender-based favouritism for men and against women undergirded family expectations,…

  3. 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

    International Nuclear Information System (INIS)

    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

  4. Congenital vertical talus in four generations of the same family

    International Nuclear Information System (INIS)

    Levinsohn, E. Mark; Shrimpton, Antony E.; Cady, Robert B.; Packard, David S.; Hootnick, David R.

    2004-01-01

    This paper presents four generations of a family with radiographically demonstrated congenital vertical talus (CVT) in whom a HOXD10 gene mutation was identified. Some members of the family with this mutation exhibited cavo-varus foot deformity consistent with a Charcot-Marie-Tooth (CMT)-like disorder. Physical examination was performed on nearly all of the affected and unaffected family members. DNA was extracted from blood obtained from 14 subjects who showed radiographic and clinical features of CVT (two of whom also had CMT), from two subjects with features of CMT but not CVT, and from 20 related family members who were clinically normal. Radiographs show the appearance of uncorrected CVT in infancy, in childhood, and in adulthood. DNA analysis revealed a mutation in a HOXD10gene located on chromosome 2 in all of the affected but none of the unaffected family members. There is an autosomal-dominant-inherited mutation with complete penetrance which is found in all members of a pedigree with CVT, some of whom exhibit a CMT-like foot disorder. Radiologic findings vary depending on the severity of involvement, treatment provided and age of the patient. (orig.)

  5. Congenital vertical talus in four generations of the same family

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    Levinsohn, E. Mark [Crouse Hospital, Department of Medical Imaging, Syracuse (United States); Shrimpton, Antony E. [SUNY Upstate Medical University, Department of Clinical Pathology, Syracuse (United States); Cady, Robert B. [SUNY Upstate Medical University, Department of Pediatrics, Syracuse (United States); Packard, David S. [SUNY Upstate Medical University, Department of Cell and Developmental Biology, Syracuse (United States); Hootnick, David R. [SUNY Upstate Medical University, Department of Pediatrics, Syracuse (United States); SUNY Upstate Medical University, Department of Cell and Developmental Biology, Syracuse (United States); SUNY Upstate Medical University, Department of Orthopedic Surgery, Syracuse (United States)

    2004-11-01

    This paper presents four generations of a family with radiographically demonstrated congenital vertical talus (CVT) in whom a HOXD10 gene mutation was identified. Some members of the family with this mutation exhibited cavo-varus foot deformity consistent with a Charcot-Marie-Tooth (CMT)-like disorder. Physical examination was performed on nearly all of the affected and unaffected family members. DNA was extracted from blood obtained from 14 subjects who showed radiographic and clinical features of CVT (two of whom also had CMT), from two subjects with features of CMT but not CVT, and from 20 related family members who were clinically normal. Radiographs show the appearance of uncorrected CVT in infancy, in childhood, and in adulthood. DNA analysis revealed a mutation in a HOXD10gene located on chromosome 2 in all of the affected but none of the unaffected family members. There is an autosomal-dominant-inherited mutation with complete penetrance which is found in all members of a pedigree with CVT, some of whom exhibit a CMT-like foot disorder. Radiologic findings vary depending on the severity of involvement, treatment provided and age of the patient. (orig.)

  6. Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A.

    Science.gov (United States)

    Kumar, Arun; Babu, Mohan; Kimberling, William J; Venkatesh, Conjeevaram P

    2004-11-24

    Usher syndrome (USH) is a rare autosomal recessive disorder characterized by deafness and retinitis pigmentosa. The purpose of this study was to determine the genetic cause of USH in a four generation Indian family. Peripheral blood samples were collected from individuals for genomic DNA isolation. To determine the linkage of this family to known USH loci, microsatellite markers were selected from the candidate regions of known loci and used to genotype the family. Exon specific intronic primers for the MYO7A gene were used to amplify DNA samples from one affected individual from the family. PCR products were subsequently sequenced to detect mutation. PCR-SSCP analysis was used to determine if the mutation segregated with the disease in the family and was not present in 50 control individuals. All affected individuals had a classic USH type I (USH1) phenotype which included deafness, vestibular dysfunction and retinitis pigmentosa. Pedigree analysis suggested an autosomal recessive mode of inheritance of USH in the family. Haplotype analysis suggested linkage of this family to the USH1B locus on chromosome 11q. DNA sequence analysis of the entire coding region of the MYO7A gene showed a novel insertion mutation c.2663_2664insA in a homozygous state in all affected individuals, resulting in truncation of MYO7A protein. This is the first study from India which reports a novel MYO7A insertion mutation in a four generation USH family. The mutation is predicted to produce a truncated MYO7A protein. With the novel mutation reported here, the total number of USH causing mutations in the MYO7A gene described to date reaches to 75.

  7. Brittle teeth with brittle bone in a family for four generations: Case report and literature review

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    P S Shilpa

    2012-01-01

    Full Text Available Dentinogenesis imperfect (DI is a hereditary dentine disorder affecting both deciduous and permanent teeth. DI is caused by mutations in genes encoding for type I collagen leading to discoloration of teeth. Shield around 30 years ago classified DI into 3 types (type I, II, and III. DI type I is associated with osteogenesis imperfect (OI, which is an inheritable disorder of connective tissue. Bone fragility and fracture of bone with minor trauma are hallmarks of this disorder. The objective of this article is to report and review a rare case of DI with OI affecting 4 generations of the family. Through this article, we intend to highlight genetic influence that affected a family for many generations, discuss the oral manifestations that can lead to the diagnosis of OI, and the importance of early diagnosis of OI.

  8. Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family

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    Myo-Jing Kim

    2014-12-01

    Full Text Available Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP. Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T. This is the first report of such a case in Korea.

  9. On Developments in the Mean Joint Lifetimes of Three- and Four-Generation Families in Western and Eastern Germany – A model Calculation

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    Evelyn Grünheid

    2011-01-01

    Full Text Available This article tackles the question of how, on the one hand, the high life expectancy and, on the other, the increasing age of mothers at childbirth will impact the joint lifetime of three and four generations and will develop in future. To this end, indicators are derived from the official data on mortality and fertility for the mean joint lifetimes of three- and four-generation families. Because of the complicated data available, the investigation will be restricted to the female succession of generations, and here to an observation of the first-born child in each case. The indicators act as model calculations, which is why they serve above all to indicate (future developments in mean joint lifetimes. The indicators are calculated for the average jointly-spent lifetime of three-generation families for the period from 1990 to 2060, and of four-generation families for the period from 2010 to 2060. The result of the calculations for Western Germany show an increase in the jointly-spent lifetime of three generations of up to roughly 35 years in 2000, after which that the figure falls continually to a value of roughly 30 years. A similarly developing trend emerges for four generations, but this is delayed by roughly 30 years towards the future, and reaches the highest value around 2030 to 2040, at roughly seven to ten years. For Eastern Germany, with its even younger age of women at childbirth in both the past and in the present, the maximum jointly-spent life years of three generations at the beginning of the observation period (roughly around 1990 is almost 40 years, after which this indicator falls continuously. The indicator of the average jointly-spent years of four-generation families, by contrast, probably reaches a maximum around 2020, with a value of 12 to 14 years. Also after this, one may anticipate a reduction in the joint lifetimes of four-generation families in Eastern Germany. All in all, the trends of the indicators denote that one

  10. Reverse-namaskar: A new sign in Ehlers-Danlos syndrome: A family pedigree study of four generations

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    Premalatha S

    2010-01-01

    Full Text Available Ehlers-Danlos Syndrome (EDS is a rare group of inheritable connective tissue disorder of defective collagen. Skin, joints and blood vessels are most commonly affected. Clinical signs such as Gorlin sign and Metenier sign have been described in this syndrome. We report another new clinical sign called ′Reverse-Namaskar′ sign as an important clinical finding in EDS, based on the family pedigree study of the proband.

  11. Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.

    Science.gov (United States)

    Pettenati, M J; Rao, P N; Weaver, R G; Thomas, I T; McMahan, M R

    1993-03-01

    We report on a 4-generation family in which Norrie disease occurs together with a pericentric inversion of the X chromosome in all affected males and carrier females. The breakpoint in the short arm of the X chromosome appears to be at the purported location of the Norrie disease gene. This is the second report of an association between Norrie disease and a chromosome aberration involving Xp11, and the first report of a specific gene disruption, thus physical gene location, due to a pericentric chromosome inversion.

  12. Four Generations in Phenomenology

    Energy Technology Data Exchange (ETDEWEB)

    Kribs, Graham D. [Department of Physics, University of Oregon, Eugene, OR 97403 (United States); Plehn, Tilman [SUPA, School of Physics, University of Edinburgh, Edinburgh EH9 3JZ, Scotland (HCP speaker) (United Kingdom); Spannowsky, Michael [ASC, Department fuer Physik, Ludwig-Maximilians-Universitaet Muenchen, 80333 Muenchen (Germany); Tait, Tim M.P. [HEP Division, Argonne National Laboratory, 9700 Cass Ave., Argonne, IL 60439 (United States)

    2008-03-15

    In four-generation models Higgs masses of 115-315 GeV are perfectly allowed by electroweak precision data. In this mass range we find dramatic effects on Higgs phenomenology at hadron colliders: production rates are enhanced, weak-boson-fusion channels are suppressed, angular distributions are modified, Higgs pairs can be observed, and Higgs decays to Majorana neutrinos can lead to exotic signals.

  13. Chinese Family Problems: Research and Trends.

    Science.gov (United States)

    Zhangling, Wei

    1983-01-01

    Discusses family life in China, which has undergone several dramatic changes including raising of the legal marriage age, less restrictions on divorce, and official promotion of family planning. Because these policies and practices conflict with Chinese traditions, inevitable problems have arisen. (JAC)

  14. 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.

  15. Mothers' Self-Reported Emotional Expression in Mainland Chinese, Chinese American and European American Families

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    Camras, Linda; Kolmodin, Karen; Chen, Yinghe

    2008-01-01

    This study compared Mainland Chinese, Chinese American and European American mothers' self-reported emotional expression within the family. Mothers of 3-year-old European American (n = 40), Chinese American (n = 39) and Mainland Chinese (n = 36) children (n = 20 girls per group) completed the Self-Expressiveness in the Family Questionnaire (SEFQ),…

  16. 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.

  17. A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

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    Wang, Kai Jie; Li, Sha Sha; Yun, Bo; Ma, Wen Xian; Jiang, Tian Ge; Zhu, Si Quan

    2011-01-08

    To identify the underlying genetic defect in a Chinese family affected with autosomal dominant congenital nuclear cataract. A four-generation Chinese family with inherited nuclear cataract phenotype was recruited. Detailed family history and clinical data were recorded. All reported nuclear cataract-related candidate genes were screened for causative mutations by direct DNA sequencing. Effects of amino acid changes on the structure and function of protein were predicted by bioinformatics analysis. All affected individuals in this family showed nuclear cataracts. Sequencing of the candidate genes revealed a heterozygous c.559C>T change in the coding region of the major intrinsic protein (MIP), which caused a substitution of highly conserved arginine by cysteine at codon 187 (p.R187C). This mutation co-segregated with all affected individuals and was not observed in unaffected family members or 110 ethnically matched controls. Bioinformatics analysis showed that the mutation was predicted to affect the function and secondary structure of MIP protein. This study identified a novel disease-causing mutation p.R187C in MIP in a Chinese cataract family, expanding the mutation spectrum of MIP causing congenital cataract.

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

    Science.gov (United States)

    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.

  19. 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.

  20. 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.

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

    International Nuclear Information System (INIS)

    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.

  2. 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,…

  3. 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.

  4. The Ties That Bind. The Chinese American Family in Transnational Chinese Cinema

    NARCIS (Netherlands)

    Han, Q.

    2014-01-01

    The primary research question raised in the thesis is how have films been able to construct the identity of ethnic Chinese in the United States? This question is addressed through three sub-questions. First, why is the family narrative so characteristic of films about Chinese Americans in

  5. 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.

  6. 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. ...

  7. Family quality of life of Chinese families of children with intellectual disabilities.

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    Hu, X; Wang, M; Fei, X

    2012-01-01

    The concepts of quality of life and family quality of life (FQOL) are increasingly being studied in the field of intellectual disabilities (ID) in China as important frameworks for: (1) assessing families' need for supports and services; (2) guiding organisational and service delivery system changes; and (3) evaluating quality family outcomes. The present study focused on exploring the perceptions of Chinese families who have a child with an ID regarding FQOL as well as examining the factor structure of FQOL concept from Chinese families. The Chinese version of the Family Quality of Life Scale was used to survey Chinese families living in the urban and suburban areas of Beijing who have a child with ID. A total of 442 families participated in this study. Confirmatory factor analysis was used to test the factor structure of FQOL. Multivariate analysis was also used to examine group differences among families in terms of family demographic variables. A five-factor structure of the FQOL construct was found in the Chinese sample, suggesting a similar factor structure found from US families in the literature. Different living conditions (e.g. housing and transportation) tended to affect significantly families' satisfaction ratings of their FQOL. It is also found that family income and severity of disability of the child are predictors of families' satisfaction ratings of FQOL. The preliminary findings of this study suggest a cross-cultural factor structure comparability of FQOL between samples in the USA and China. Results call for further examination of the family-centred service and support as a mediator on the interactive relationship between family characteristics, family needs and FQOL outcomes. © 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd.

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

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    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.

  9. Ehlers-danlos Syndrome in Four Generations

    Directory of Open Access Journals (Sweden)

    H B Singh

    1983-01-01

    Full Text Available Thirteen cases of Ehlers-Danlos syndrome are being reported from a twentyfive member family. All had type 11 (mitis variety of Ehlers-danlos syndrome with autosomal dominant transmission.

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

    Science.gov (United States)

    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.

  11. Cultural influences on parental bereavement in Chinese families.

    Science.gov (United States)

    Ho, Sio-Wa; Brotherson, Sean E

    2007-01-01

    The purpose of this study was to explore the bereavement experiences of parents who had experienced the death of a child in Chinese families. In-depth interviews were conducted with 10 bereaved parents in Macau, China. Narrative accounts of Chinese parents' experience in the loss of a child were explored to understand how their connection to the deceased child and their worldview were influenced by cultural beliefs and values. Study themes related to parental connections with the deceased child included the use of object linking, memorializing acts, and avoidance of traditional funeral processes, with clear patterns of Chinese cultural influence. Additionally, themes related to impacts on parental worldview included use of the concept of fate as a rationale for child loss and influences on religious orientation. The influence of cultural beliefs and background on Chinese parents as they deal with the issue of a child's death was apparent. Further research is needed and will benefit our understanding of parental bereavement in Chinese families.

  12. Validation of the Parenting and Family Adjustment Scales to Measure Parenting Skills and Family Adjustment in Chinese Parents

    Science.gov (United States)

    Guo, Mingchun; Morawska, Alina; Filus, Ania

    2017-01-01

    This study validated a parent-report measure of the Parenting and Family Adjustment Scales in a Chinese cultural context through investigating 650 Chinese parents. The results provided evidence for satisfactory reliability and validity of Parenting and Family Adjustment Scales in a Chinese context, which is thus promising to be used for Chinese…

  13. Views of the Family by Chinese and U.S. Children: A Comparative Study of Kinetic Family Drawings.

    Science.gov (United States)

    Nuttall, Ena Vasquez; And Others

    1988-01-01

    Compared family drawings of Chinese (People's Republic of China) and United States (U.S.) elementary school children. Chinese children depicted parents and grandparents more frequently, reflecting the Chinese tendency to perceive themselves as members of nuclear and extended families, whereas U.S. children expressed more individualism and…

  14. 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.

  15. 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.

  16. 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.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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.…

  19. Family Impacts on Self-Esteem in Chinese College Freshmen

    Directory of Open Access Journals (Sweden)

    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.

  20. 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

  1. A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.

    Science.gov (United States)

    Yao, Ke; Wang, Wei; Zhu, Yanan; Jin, Chongfei; Shentu, Xingchao; Jiang, Jin; Zhang, Yidong; Ni, Shuang

    2011-12-01

    Congenital cataract (CC) is the leading cause of visual disability in children. To date, mutations in many genes have been linked to CC. In a four-generation Chinese family with congenital nuclear pulverulent and posterior polar cataracts, we detected a heterozygous c.5G>A transition in the second exon of GJA3, resulting in the substitution of a highly conserved glycine with aspartic acid (p.G2D) at the N-terminus of the connexin46 (Cx46) protein. Wild type (wt) and mutant Cx46 plasmids were transfected into HeLa cells to examine the molecular basis of cataract formation. Unlike wt Cx46, Cx46G2D mutant formed gap junction plaques inefficiently, changed hemichannel permeability, and caused apoptosis. These results suggest that the glycine residue at the second position of the N-terminus is important for gap junction plaque formation and hemichannel function. © 2011 Wiley Periodicals, Inc.

  2. The Chinese family-centered care survey for adult intensive care unit: A psychometric study.

    Science.gov (United States)

    Wang, Wen-Ling; Feng, Jui-Ying; Wang, Chi-Jen; Chen, Jing-Huei

    2016-02-01

    This study aimed to develop a family-centered care survey for Chinese adult intensive care units and to establish the survey's psychometric properties. Family-centered care (FCC) is widely recognized as an ideal model of care. Few studies have explored FCC perceptions among family members of adult critical care patients in Asian countries, and no Chinese FCC measurement has been developed. An English version of the 3-factor family-centered care survey for adult intensive care units (FCCS-AICU) was translated into Chinese using a modified back translation procedure. Based on the literature review, two additional concepts, information and empowerment, were added to the Chinese FCCS-AICU. The psychometric properties of the Chinese FCCS-AICU were determined with 249 family members from a medical center in Taiwan and were tested for construct and convergent validity, and internal consistency. Both the monolingual and bilingual equivalence tests of the English and Chinese versions of the 3-factor FCCS-AICU were supported. Exploratory factor analysis supported the 5-factor structure of the Chinese FCCS-AICU with a total explained variance of 58.34%. The Chinese FCCS-AICU was correlated with the Chinese Critical Care Family Needs Inventory. Internal consistency, determined by Cronbach's α, for the overall scale was .94. The Chinese FCCS-AICU is a valid and reliable tool for measuring perceptions of FCC by family members of adult intensive care patients within Chinese-speaking communities. Copyright © 2015 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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…

  4. Familial tumoral calcinosis in two Chinese patients: a case series

    Directory of Open Access Journals (Sweden)

    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.

  5. Molecular genetics of a Chinese family with spinocerebellar ataxia

    Directory of Open Access Journals (Sweden)

    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

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

    Science.gov (United States)

    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…

  7. 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…

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

    Science.gov (United States)

    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.

  9. Child Psychological Maltreatment and Its Correlated Factors in Chinese Families.

    Science.gov (United States)

    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.

  10. Four generations of nurse theorists in the U.S

    DEFF Research Database (Denmark)

    Hall, Elisabeth

    1997-01-01

    that all four generations of theories have had importance for nursing as a practice discipline, and that much of nursing's theoretical thinking has been studied during the four generations. It is however, an ebb in nursing knowledge concerning environment. Future studies are suggested to challenge this ebb.......Since the academic era of U.S. nursing started in the mid 1950s different questions and answers regarding nursing as an independent discipline is posed. The first theorists wanted to separate nursing from medicine, later theorists asked questions about nursing theory, and the essence and substance...... of nursing. The aim of this article is to describe the questions and answers directed by four generations of U.S. nurse theorists. The article gives an overview of how the theorists connected to each others' thoughts for the identification and development of nursing domain. The theorists' influence...

  11. Discrimination and adjustment among Chinese American adolescents: family conflict and family cohesion as vulnerability and protective factors.

    Science.gov (United States)

    Juang, Linda P; Alvarez, Alvin A

    2010-12-01

    We examined racial/ethnic discrimination experiences of Chinese American adolescents to determine how discrimination is linked to poor adjustment (i.e., loneliness, anxiety, and somatization) and how the context of the family can buffer or exacerbate these links. We collected survey data from 181 Chinese American adolescents and their parents in Northern California. We conducted hierarchical regression analyses to examine main effects and 2-way interactions of perceived discrimination with family conflict and family cohesion. Discrimination was related to poorer adjustment in terms of loneliness, anxiety, and somatization, but family conflict and cohesion modified these relations. Greater family conflict exacerbated the negative effects of discrimination, and greater family cohesion buffered the negative effects of discrimination. Our findings highlight the importance of identifying family-level moderators to help adolescents and their families handle experiences of discrimination.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

  15. 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.

  16. 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...

  17. 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...

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

    Directory of Open Access Journals (Sweden)

    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.

  19. Understanding the Culture of Chinese Children and Families

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

  3. Natural four-generation mass textures in MSSM brane worlds

    International Nuclear Information System (INIS)

    Lebed, Richard F.; Mayes, Van E.

    2011-01-01

    A fourth generation of standard model fermions is usually considered unlikely due to constraints from direct searches, electroweak precision measurements, and perturbative unitarity. We show that fermion mass textures consistent with all constraints may be obtained naturally in a model with four generations constructed from intersecting D6-branes on a T 6 /(Z 2 xZ 2 ) orientifold. The Yukawa matrices of the model are rank 2, so that only the third- and fourth-generation fermions obtain masses at the trilinear level. The first two generations obtain masses via higher-order couplings and are therefore naturally lighter. In addition, we find that the third and fourth generations automatically split in mass, but do not mix at leading order. Furthermore, the standard model gauge couplings automatically unify at the string scale, and all the hidden-sector gauge groups become confining in the range 10 13 -10 16 GeV, so that the model becomes effectively a four-generation minimal supersymmetric standard model at low energies.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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)…

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

  13. 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...

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

    OpenAIRE

    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. ...

  15. 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...

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.  

  18. Children's Early Literacy Environment in Chinese and American Indian Families.

    Science.gov (United States)

    Wang, Xiao-lei; Bernas, Ronan; Eberhard, Philippe

    This study examined how Chinese and American Indian mothers support their young children's early literacy development in everyday interactions. Twenty mother-child dyads in each cultural community participated in the study. Analysis of videotaped interactions indicated that the mothers in the two communities differed greatly in the ways they…

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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)

  1. Measuring the expressed emotion in Chinese family caregivers of persons with dementia: Validation of a Chinese version of the Family Attitude Scale.

    Science.gov (United States)

    Yu, Doris S F; Kwok, Timothy; Choy, Jacky; Kavanagh, David J

    2016-03-01

    Expressed emotion (EE) captures the affective quality of the relationship between family caregivers and their care recipients and is known to increase the risk of poor health outcomes for caregiving dyads. Little is known about expressed emotion in the context of caregiving for persons with dementia, especially in non-Western cultures. The Family Attitude Scale (FAS) is a psychometrically sound self-reporting measure for EE. Its use in the examination of caregiving for patients with dementia has not yet been explored. This study was performed to examine the psychometric properties of the Chinese version of the FAS (FAS-C) in Chinese caregivers of relatives with dementia, and its validity in predicting severe depressive symptoms among the caregivers. The FAS was translated into Chinese using Brislin's model. Two expert panels evaluated the semantic equivalence and content validity of this Chinese version (FAS-C), respectively. A total of 123 Chinese primary caregivers of relatives with dementia were recruited from three elderly community care centers in Hong Kong. The FAS-C was administered with the Chinese versions of the 5-item Mental Health Inventory (MHI-5), the Zarit Burden Interview (ZBI) and the Revised Memory and Behavioral Problem Checklist (RMBPC). The FAS-C had excellent semantic equivalence with the original version and a content validity index of 0.92. Exploratory factor analysis identified a three-factor structure for the FAS-C (hostile acts, criticism and distancing). Cronbach's alpha of the FAS-C was 0.92. Pearson's correlation indicated that there were significant associations between a higher score on the FAS-C and greater caregiver burden (r=0.66, p47 with a sensitivity of 0.720 (95% CI=0.506-0.879) and specificity of 0.742 (95% CI=0.643-0.826). The FAS-C is a reliable and valid measure to assess the affective quality of the relationship between Chinese caregivers and their relatives with dementia. It also has acceptable predictability in

  2. Family and social aspects associated with depression among older persons in a Chinese context.

    Science.gov (United States)

    Zeng, Wen; North, Nicola; Kent, Bridie

    2013-12-01

    This study aims to explore the factors associated with depression among older persons in Macau, in relation to family and social aspects. Depression among community-dwelling older persons in Macau has been shown to be present at high rates. In Chinese culture, depression leads to social stigmatisation, suggesting a need to better understand depression as a sociocultural phenomenon. A mixed methods study was undertaken to identify the key influences on depression among Chinese older persons in Macau. Quantitative (standardised tests) and qualitative (collection of narratives) data were collected from 31 purposively selected participants, all community-dwelling older persons with depression. Depression was common among the participants. The paper reports on the family and social aspects, one of the findings of the study. Informants readily described their thoughts and judgements of themselves in graphic language. As they explored their life stories, family and social aspects emerged as significant influences that associated with depression. In a society and culture that relies on and values filial support, experiences of being widowed, having poor family support and weak social networks appeared to compound and exacerbate depression. These findings highlight that filial support, valued in Chinese culture, is seriously strained by the realities of contemporary society. Yet current government policies rely on and confirm the role of family support. Findings from this study suggest a need for such policies to be reviewed to address the realities of family and social support. The findings have several implications for clinical practice. Firstly, the cultural context of Chinese older persons should be considered and emphasised in nursing practice. Secondly, the root of depression among Chinese older persons is seen to lie in their social, family, cultural and day-to-day living issues. © 2012 Blackwell Publishing Ltd.

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

    Science.gov (United States)

    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

  4. Factor Structure and Psychometric Properties of the Work-Family Balance Scale in an Urban Chinese Sample

    Science.gov (United States)

    Zhang, Huiping; Yip, Paul S. F.; Chi, Peilian; Chan, Kinsun; Cheung, Yee Tak; Zhang, Xiulan

    2012-01-01

    The purpose of this study was to explore the factor structure of the Work-Family Balance Scale (WFBS) and examine its reliability and validity in use in the urban Chinese population. The scale was validated using a sample of 605 urban Chinese residents from 7 cities. Exploratory factor analysis identified two factors: work-family conflict and…

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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).

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

  10. Family Processes and Suicidal Ideation among Chinese Adolescents in Hong Kong

    Directory of Open Access Journals (Sweden)

    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.

  11. 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.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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)

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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,…

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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.…

  20. Job Insecurity and Remuneration in Chinese Family-Owned Business Workers

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

  3. 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…

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

    Science.gov (United States)

    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,…

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

    NARCIS (Netherlands)

    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

  6. 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 ...

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

    Science.gov (United States)

    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.

  8. 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

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

    Science.gov (United States)

    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.

  10. Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Qing-lin [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Xu, Jia [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Medical College of Soochow University, Suzhou, Jiangsu province 215000 (China); Zhang, Zeng [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); He, Jin-wei [Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Lu, Lian-song [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Medical College of Soochow University, Suzhou, Jiangsu province 215000 (China); Fu, Wen-zhen [Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Zhang, Zhen-lin, E-mail: zzl2002@medmail.com.cn [Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China)

    2012-07-13

    Highlights: Black-Right-Pointing-Pointer In our study, all of the patients were of Han Chinese ethnicity, which were rarely reported. Black-Right-Pointing-Pointer We identified three novel PHEX gene mutations in four unrelated families with XLH. Black-Right-Pointing-Pointer We found that the relationship between the phenotype and genotype of the PHEX gene was not invariant. Black-Right-Pointing-Pointer We found that two PHEX gene sites, p.534 and p.731, were conserved. -- Abstract: Background: X-linked hypophosphatemia (XLH), the most common form of inherited rickets, is a dominant disorder that is characterized by renal phosphate wasting with hypophosphatemia, abnormal bone mineralization, short stature, and rachitic manifestations. The related gene with inactivating mutations associated with XLH has been identified as PHEX, which is a phosphate-regulating gene with homologies to endopeptidases on the X chromosome. In this study, a variety of PHEX mutations were identified in four Chinese families with XLH. Methods: We investigated four unrelated Chinese families who exhibited typical features of XLH by using PCR to analyze mutations that were then sequenced. The laboratory and radiological investigations were conducted simultaneously. Results: Three novel mutations were found in these four families: one frameshift mutation, c.2033dupT in exon 20, resulting in p.T679H; one nonsense mutation, c.1294A > T in exon 11, resulting in p.K432X; and one missense mutation, c.2192T > C in exon 22, resulting in p.F731S. Conclusions: We found that the PHEX gene mutations were responsible for XLH in these Chinese families. Our findings are useful for understanding the genetic basis of Chinese patients with XLH.

  11. Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets

    International Nuclear Information System (INIS)

    Kang, Qing-lin; Xu, Jia; Zhang, Zeng; He, Jin-wei; Lu, Lian-song; Fu, Wen-zhen; Zhang, Zhen-lin

    2012-01-01

    Highlights: ► In our study, all of the patients were of Han Chinese ethnicity, which were rarely reported. ► We identified three novel PHEX gene mutations in four unrelated families with XLH. ► We found that the relationship between the phenotype and genotype of the PHEX gene was not invariant. ► We found that two PHEX gene sites, p.534 and p.731, were conserved. -- Abstract: Background: X-linked hypophosphatemia (XLH), the most common form of inherited rickets, is a dominant disorder that is characterized by renal phosphate wasting with hypophosphatemia, abnormal bone mineralization, short stature, and rachitic manifestations. The related gene with inactivating mutations associated with XLH has been identified as PHEX, which is a phosphate-regulating gene with homologies to endopeptidases on the X chromosome. In this study, a variety of PHEX mutations were identified in four Chinese families with XLH. Methods: We investigated four unrelated Chinese families who exhibited typical features of XLH by using PCR to analyze mutations that were then sequenced. The laboratory and radiological investigations were conducted simultaneously. Results: Three novel mutations were found in these four families: one frameshift mutation, c.2033dupT in exon 20, resulting in p.T679H; one nonsense mutation, c.1294A > T in exon 11, resulting in p.K432X; and one missense mutation, c.2192T > C in exon 22, resulting in p.F731S. Conclusions: We found that the PHEX gene mutations were responsible for XLH in these Chinese families. Our findings are useful for understanding the genetic basis of Chinese patients with XLH.

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

    Science.gov (United States)

    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.

  13. The experience of Chinese immigrant women in caring for a terminally ill family member in Australia.

    Science.gov (United States)

    Heidenreich, Mary T; Koo, Fung Kuen; White, Kate

    2014-01-01

    The Chinese community, a heterogeneous, highly visible non-English speaking ethnic group in Australia, remains mostly hidden and underrepresented in palliative care service delivery along with participation in health research despite being the fastest growing such group in the country. There is a lack of Australian research information concerning the impact of migration on the caregiving experience of women carers within the Chinese cultural framework and the Australian palliative care context. This paper aims to explore the influence of Chinese cultural norms and immigration on the experience of immigrant women of Chinese ancestry caring for a terminally ill family member at home in Sydney. This study also seeks to identify factors that may present access barriers to palliative care support services. A qualitative approach was used in this study. Data were collected from semi-structured interviews with five home-based Chinese women carers and were analysed using thematic analysis. Findings identified that the participants found being a carer is a lonely and isolating experience. Sources of isolation and loneliness included social isolation experienced as a solitary carer without meaningful family and social relationships; loss of familiar cultural understandings and family values; and emotional isolators expressed in response to the physical and emotional role commitment and other constraints. The study results suggest the need for palliative care educational programmes designed to help nurses to understand the impact of cultural background within the palliative care context. Results also indicate that health care professionals should provide culturally appropriate and competent palliative care services, sensitive to the diverse socio-cultural influences and individual needs of Chinese migrants.

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

    Science.gov (United States)

    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

  15. Association between Family Structure and Physical Activity of Chinese Adolescents

    Directory of Open Access Journals (Sweden)

    Lijuan Wang

    2016-01-01

    Full Text Available Background. This study examines the association between family structure and moderate-to-vigorous physical activity (MVPA of adolescents in China. Methods. The participants included 612 adolescents (317 boys and 295 girls from Shanghai with ages ranging from 10 to 16 years. Accelerometers were used to measure the duration of MVPA of adolescents, and questionnaires on family structure were completed by the parents of these adolescents. Results. Findings suggested that family structure significantly increased the likelihood of adolescents engaging in physical activity (PA and explained 6% of MPVA variance. Adolescents living in single-parent households and step families were more physically active than those living in two-parent homes and with biological parents, respectively. However, adolescents residing with grandparents were less active than those living with neither grandparent. No significant difference was found in MVPA time between adolescents living with one sibling and those without siblings. Conclusion. Family environment may be considered in the development of PA interventions and policies, and adolescents living with their grandparents may be targeted in PA promotion.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

  1. 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

    Science.gov (United States)

    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…

  2. [Analysis of gene mutation in a Chinese family with Norrie disease].

    Science.gov (United States)

    Zhang, Tian-xiao; Zhao, Xiu-li; Hua, Rui; Zhang, Jin-song; Zhang, Xue

    2012-09-01

    To detect the pathogenic mutation in a Chinese family with Norrie disease. Clinical diagnosis was based on familial history, clinical sign and B ultrasonic examination. Peripheral blood samples were obtained from all available members in a Chinese family with Norrie disease. Genomic DNA was extracted from lymphocytes by the standard SDS-proteinase K-phenol/chloroform method. Two coding exons and all intron-exon boundaries of the NDP gene were PCR amplified using three pairs of primers and subjected to automatic DNA sequence. The causative mutation was confirmed by restriction enzyme analysis and genotyping analysis in all members. Sequence analysis of NDP gene revealed a missense mutation c.220C > T (p.Arg74Cys) in the proband and his mother. Further mutation identification by restriction enzyme analysis and genotyping analysis showed that the proband was homozygote of this mutation. His mother and other four unaffected members (III3, IV4, III5 and II2) were carriers of this mutation. The mutant amino acid located in the C-terminal cystine knot-like domain, which was critical motif for the structure and function of NDP. A NDP missense mutation was identified in a Chinese family with Norrie disease.

  3. Familial aggregation of forearm bone mineral density in Chinese

    International Nuclear Information System (INIS)

    Hong Xiumei; Niu Tianhua; Chen Changzhong; Wang Binyan; Venners, Scott A.; Fang Zhian; Xu Xiping

    2007-01-01

    Osteoporosis is a major public health concern and its prevalence can be predicted based on forearm bone mineral density (BMD). This study is to investigate the familial aggregation of forearm BMD in a population-based, cross-sectional study in Anhui, China. Information on sociodemographic and environmental variables was obtained from 1,636 subjects from 409 nuclear families (including mother, father, and their first two children) by a standardized questionnaire. The forearm BMD was measured by peripheral dual-energy X-ray absorptiometry (pDXA). Using generalized additive models with a sequential adjustment for covariates, it was clearly indicated that the forearm BMD of the mother, the father, and the first sibling each had a significant and independent relation to the forearm BMD of the second sibling. Furthermore, using multiple logistic regression, the second sibling had an odds ratio (OR) of 5.3 (95%CI: 2.0-14.5) of having an extremely low (bottom 10th percentile) proximal forearm BMD and an OR of 4.3 (95%CI: 1.6-12.0) of having an extremely low distal forearm BMD when the parental mean forearm BMD was low and the first sibling's forearm BMD was low. Our findings showing strong familial aggregation of both proximal and distal forearm BMD values suggest that genetic factors play a significant role in determining both traits

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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.

  10. Hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large Chinese family.

    Science.gov (United States)

    He, Yuan; Wu, Qiang; Xu, Zhipeng; Wang, Qianqian; Wang, Weili; Li, Dezhong; Liu, Wanhong; He, Xiaohua

    2012-01-01

    Hereditary neuropathy with liability to pressure palsy (HNPP), mainly associated with the peripheral myelin protein 22 (PMP22) gene, is generally an autosomal-dominant inherited peripheral neuropathy. The present large family including four generations provides an exciting opportunity to gain important insights into HNPP in China. A large 43-member family with ten members suspected to be affected by HNPP was studied. Neurologic examinations, electrophysiological and neuropathological studies and molecular genetic testing were used for these kindred. Clinically, the proband had limb hyposthenia and atrophy, and his mother showed declined tendon reflexes in the right lower limb. Electrophysiologically, sensory and motor nerve conduction velocities were generalized reduced. Sural nerve biopsy for the proband showed focal thickesning of the myelin sheaths. Furthermore, real-time quantitative PCR demonstrated that the PMP22 gene has a higher Ct value than reference gene in all suspected patients. These results indicated that the family is indeed a rare and large pedigree of HNPP caused by the deletion of PMP22 gene. Given that the suspected patient in the fourth generation is absent, this family is still worthy of further follow-up study. Copyright © 2012 S. Karger AG, Basel.

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

    OpenAIRE

    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, ...

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  14. 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...

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

    Science.gov (United States)

    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.

  16. 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.

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  19. 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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  6. Chinese Families of Children with Severe Disabilities: Family Needs and Available Support

    Science.gov (United States)

    Wang, Peishi; Michaels, Craig A.

    2009-01-01

    This descriptive study gathered quantitative and qualitative data about 368 families in the People's Republic of China who had children with severe disabilities to better understand (a) the perceived needs that families have, (b) the supports available to them, (c) any differences in perceived needs and support between mothers and fathers, and (d)…

  7. Acculturation-Based and Everyday Family Conflict in Chinese American Families

    Science.gov (United States)

    Juang, Linda P.; Syed, Moin; Cookston, Jeffrey T.; Wang, Yijie; Kim, Su Yeong

    2012-01-01

    Everyday conflict (studied primarily among European American families) is viewed as an assertion of autonomy from parents that is normative during adolescence. Acculturation-based conflict (studied primarily among Asian- and Latino-heritage families) is viewed as a threat to relatedness with parents rather than the normative assertion of autonomy.…

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  12. Genome-wide analysis of the SBP-box gene family in Chinese cabbage (Brassica rapa subsp. pekinensis).

    Science.gov (United States)

    Tan, Hua-Wei; Song, Xiao-Ming; Duan, Wei-Ke; Wang, Yan; Hou, Xi-Lin

    2015-11-01

    The SQUAMOSA PROMOTER BINDING PROTEIN (SBP)-box gene family contains highly conserved plant-specific transcription factors that play an important role in plant development, especially in flowering. Chinese cabbage (Brassica rapa subsp. pekinensis) is a leafy vegetable grown worldwide and is used as a model crop for research in genome duplication. The present study aimed to characterize the SBP-box transcription factor genes in Chinese cabbage. Twenty-nine SBP-box genes were identified in the Chinese cabbage genome and classified into six groups. We identified 23 orthologous and 5 co-orthologous SBP-box gene pairs between Chinese cabbage and Arabidopsis. An interaction network among these genes was constructed. Sixteen SBP-box genes were expressed more abundantly in flowers than in other tissues, suggesting their involvement in flowering. We show that the MiR156/157 family members may regulate the coding regions or 3'-UTR regions of Chinese cabbage SBP-box genes. As SBP-box genes were found to potentially participate in some plant development pathways, quantitative real-time PCR analysis was performed and showed that Chinese cabbage SBP-box genes were also sensitive to the exogenous hormones methyl jasmonic acid and salicylic acid. The SBP-box genes have undergone gene duplication and loss, evolving a more refined regulation for diverse stimulation in plant tissues. Our comprehensive genome-wide analysis provides insights into the SBP-box gene family of Chinese cabbage.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

  20. Intergenerational Transmission of Educational Aspirations in Chinese Families: Identifying Mediators and Moderators.

    Science.gov (United States)

    Wu, Nini; Hou, Yang; Wang, Qian; Yu, Chengfu

    2018-06-01

    Parents' educational aspirations for youth play an important role in shaping youth's own educational aspirations; however, little is known about how and in what context parents may transmit their aspirations to youth effectively. This is of particular interest and import to be examined in Chinese families, given Chinese cultural emphasis on educational achievement and Chinese youth's outstanding academic performance internationally. By integrating several key theories of motivation and parental socialization (i.e., the expectancy-value model of academic achievement, the two-step model of value transmission, the contextual model of parenting, and the self-determination theory), the current study investigated simultaneously the mediating roles of parental involvement in youth's learning and youth's perceptions of parental aspirations, as well as the moderating role of parental warmth in the intergenerational transmission process of educational aspirations in Chinese families. A two-wave longitudinal study spanning about half a year was conducted among 323 Chinese seventh graders (54% female; M age  = 13.25 years) and one of their parents (median educational attainment = completion of high school, median monthly income = USD 766-1226). It was found that parental educational aspirations for youth were related positively both indirectly through parental involvement and directly to youth's perceptions of parental aspirations, which in turn were associated positively with youth's own educational aspirations about half a year later. It was also found that parental educational aspirations for youth and youth's own educational aspirations were associated positively with each other only when youth reported experiencing high levels of parental warmth, but unrelated when youth reported experiencing low levels of parental warmth, whereas such moderating effects of parental warmth were absent on the links from parental aspirations to youth's perceptions of parental

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

    International Nuclear Information System (INIS)

    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

  2. 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...

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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

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

    Science.gov (United States)

    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).

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

  11. Four generations in a family with neurofibromatosis 1: precocious puberty and optic nerve tumor (OPT).

    Science.gov (United States)

    Gucev, Z; Krstevska-Konstantinova, M; Tasic, V; Jancevska, A; Kirovski, I; Pop-Jordanova, N

    2010-01-01

    Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with varied clinical manifestations. The proband is a 6-year-old boy with signs of precocious puberty. His penis was 10 cm, testicles 8 ml, pubic hair P2-3, and the genital skin was hyperpigmented. Multiple cafe au lait spots well above 5 mm were noticeable on his skin, as well as hard subcutaneous nodules, mostly on his trunk. His intelligence and hearing are normal. He has no history of seizures. Laboratory analysis showed: LH LH 1.4 mIU/ml, FSH 6.2 mIU/ml, testosterone 183 ng/ml. Bone age was 9 years. LHRH stimulation was characteristic of true precocious puberty (LH 9.8 mIU/ml and FSH 8.9 mIU/ml after 30 minutes). The MRI of the brain showed a tumor of the suprasellar region with compression of the pituitary stalk. At present the boy is 6 years old and has been treated with triptoreline acetate for 3 months. The volume of the testicles has decreased to 7 ml and a slight loss of pubic hair was noted. In addition, his mother and his grandfather exhibited dermal masses, and focal cutaneous and subcutaneous growths. The great-grand father had had the same cutaneous changes and died at the age of 75 from unrelated causes. It has already been well documented that NF is associated with an increased risk of malignancy and precocious puberty. Hence, we emphasize the need for a close and regular clinical follow-up of the OPT, puberty and patterns of growth.

  12. A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.

    Science.gov (United States)

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

    2013-12-01

    To identify the genetic defect in a three-generation Chinese family with congenital cataracts. The phenotype of a three-generation Chinese family with congenital cataract was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation. Bioinformatics analysis was performed to predict the function of mutant gene. The phenotype of the family was identified as nuclear cataract. Direct sequencing revealed a c.161 G > T transversion in exon 1 of crystallin alpha-A (CRYAA). This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members nor in the 100 unrelated controls. Bioinformatics analysis indicated that the 54th amino acid position was highly conserved and the mutation R54L caused an increase of local hydrophobicity around the substitution site. This study identified a novel disease-causing mutation c.161 G > T (p.R54L) in CRYAA in a Chinese family with autosomal dominant nuclear cataracts, this is the first report relating a G > T mutation in CRYAA leading to congenital nuclear cataract.

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

    Directory of Open Access Journals (Sweden)

    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.

  14. [Analysis of USH2A gene mutation in a Chinese family affected with Usher syndrome].

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  16. 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.

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

    Science.gov (United States)

    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

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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".

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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

  7. 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.

  8. Parent Engagement in Youth Drug Prevention in Chinese Families: Advancement in Program Development and Evaluation

    Directory of Open Access Journals (Sweden)

    Sandra K. M. Tsang

    2011-01-01

    Full Text Available The escalating youth drug abuse problem in Hong Kong has attracted intense attention from the government, schools, and youth service professionals. Most preventive efforts have focused directly on positive youth development, very often through school programs delivered to secondary school students. There have been limited efforts to engage parents even though it is obvious that the family is actually the primary context of children and youth development. This paper will assert the importance of parental engagement in youth drug-prevention work, discuss some barriers in such parental involvement, present some promising local attempts and their strengths and limitations, and propose that sustained efforts are needed to build up theory-driven and evidence-based resources for Chinese communities on the subject.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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.…

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

    Science.gov (United States)

    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…

  12. 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

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

    Science.gov (United States)

    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

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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

  17. Familial risks and estrogen receptor-positive breast cancer in Hong Kong Chinese women.

    Directory of Open Access Journals (Sweden)

    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.

  18. Familial risks and estrogen receptor-positive breast cancer in Hong Kong Chinese women.

    Science.gov (United States)

    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.

  19. 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...

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

  6. 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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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.…

  8. Novel Variations of FANCA Gene Provokes Fanconi Anemia: Molecular Diagnosis in a Special Chinese Family.

    Science.gov (United States)

    Li, Niu; Song, Aiyun; Ding, Lixia; Zhu, Hua; Li, Guoqiang; Miao, Yan; Wang, Jian; Li, Benshang; Chen, Jing

    2018-07-01

    Fanconi anemia (FA) is a rare autosomal recessive or X-linked disorder with highly variable clinical manifestations and an incidence of ∼1 to 5 in 1 million births. To date, 15 bona fide FA genes have been reported to be responsible for the known FA complementation groups and the FANCA gene accounts for almost 60%. In the present study, we report a special Chinese family, which has 2 children with classic FA characteristics. Via 2-step analysis of the whole-exome sequencing data and verification using multiplex ligation-dependent probe amplification test, one child was found to have a novel compound heterozygous mutation of a splicing variant (c.1471-1G>A) and a large intragenic deletion (exons 23-30 del) of the FANCA gene. The other child had the same splicing variant and another novel large deletion (exons 1-18 del) in the FANCA gene. Clone sequencing showed the c.1471-1G>A variant generate an altered transcript with 1 cryptic splice site in intron 15, resulting in a premature termination codon (p.Val490HisfsX6). This study not only shows the complexity of FA molecular diagnosis via comprehensively studying the FA pathogenic genes and the mutational spectrum, but also has significant reference value for the future molecular diagnosis of FA.

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

    Science.gov (United States)

    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…

  10. 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...

  11. 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.

  12. Implications of Higgs searches on the four-generation standard model.

    Science.gov (United States)

    Kuflik, Eric; Nir, Yosef; Volansky, Tomer

    2013-03-01

    Within the four-generation standard model, the Higgs couplings to gluons and to photons deviate in a significant way from the predictions of the three-generation standard model. As a consequence, large departures in several Higgs production and decay channels are expected. Recent Higgs search results, presented by ATLAS, CMS, and CDF, hint on the existence of a Higgs boson with a mass around 125 GeV. Using these results and assuming such a Higgs boson, we derive exclusion limits on the four-generation standard model. For m(H)=125 GeV, the model is excluded above 99.95% confidence level. For 124.5 GeV≤m(H)≤127.5 GeV, an exclusion limit above 99% confidence level is found.

  13. 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.

    Science.gov (United States)

    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.

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

    OpenAIRE

    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...

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

    Science.gov (United States)

    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.

  16. 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

  17. 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.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  2. 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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  6. The impact of family intactness on family functioning, parental control and parent-child relational qualities in a Chinese context

    Directory of Open Access Journals (Sweden)

    Daniel Tan Lei Shek

    2015-01-01

    Full Text Available The current study investigated the differences between intact and non-intact families in family processes, including systematic family functioning, parental behavioral control, parental psychological control, and parent-child relational qualities. The participants were 3,328 Secondary One students, with a mean age of 12.59 years, recruited from 28 secondary schools in Hong Kong. Four validated scales were used to assess family processes. Results showed that adolescents in non-intact families perceived relatively poorer family functioning, lower level of paternal and maternal behavioral control, lower level of paternal psychological control and poorer parent-child relational qualities than did adolescents in intact families. This generally indicated that family processes were poorer in non-intact families, compared with those in intact families. The theoretical and practical implications of the findings were discussed.

  7. Tiger Parents or Sheep Parents?: Struggles of Parental Involvement in Working-Class Chinese Immigrant Families

    Science.gov (United States)

    Qin, Desirée Baolian; Han, Eun-Jin

    2014-01-01

    Background/Context: Research on Chinese immigrant parents tends to focus on their high levels of educational involvement and its positive impact on their children's exceptional educational performances. Relatively little research has been conducted to understand the challenges Chinese immigrant parents face in helping their children with school…

  8. Parenting Styles of Chinese Families and Children's Social-Emotional and Cognitive Developmental Outcomes

    Science.gov (United States)

    Li, Xiaowei; Xie, Jing

    2017-01-01

    Using data from a sample of Chinese children (n = 297) aged 3-6 years in Beijing, we examined the characteristics of Chinese parenting styles and the relationship with children's developmental outcomes. A 6-month follow-up study of 110 of the 297 participants further explored the long-term effect of parenting styles on children's development.…

  9. Chinese American and Caucasian American Family Interaction Patterns in Spatial Rotation Puzzle Solutions.

    Science.gov (United States)

    Hutsinger, Carol S.; Jose, Paul E.

    1995-01-01

    Examined sociocultural influences on mathematics achievement. First generation Chinese American and Caucasian American mother-father-daughter triads were audiotaped as the fifth- and sixth-grade girls solved a spatial puzzle. Chinese American triads were quieter, more respectful, more serious, and more orderly, whereas Caucasian American triads…

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

    Directory of Open Access Journals (Sweden)

    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.

  11. Systematics of the family Plectopylidae in Vietnam with additional information on Chinese taxa (Gastropoda, Pulmonata, Stylommatophora

    Directory of Open Access Journals (Sweden)

    Barna Páll-Gergely

    2015-01-01

    Full Text Available Vietnamese species from the family Plectopylidae are revised based on the type specimens of all known taxa, more than 600 historical non-type museum lots, and almost 200 newly-collected samples. Altogether more than 7000 specimens were investigated. The revision has revealed that species diversity of the Vietnamese Plectopylidae was previously overestimated. Overall, thirteen species names (anterides Gude, 1909, bavayi Gude, 1901, congesta Gude, 1898, fallax Gude, 1909, gouldingi Gude, 1909, hirsuta Möllendorff, 1901, jovia Mabille, 1887, moellendorffi Gude, 1901, persimilis Gude, 1901, pilsbryana Gude, 1901, soror Gude, 1908, tenuis Gude, 1901, verecunda Gude, 1909 were synonymised with other species. In addition to these, Gudeodiscus hemmeni sp. n. and G. messageri raheemi ssp. n. are described from north-western Vietnam. Sixteen species and two subspecies are recognized from Vietnam. The reproductive anatomy of eight taxa is described. Based on anatomical information, Halongella gen. n. is erected to include Plectopylis schlumbergeri and P. fruhstorferi. Additionally, the genus Gudeodiscus is subdivided into two subgenera (Gudeodiscus and Veludiscus subgen. n. on the basis of the morphology of the reproductive anatomy and the radula. The Chinese G. phlyarius werneri Páll-Gergely, 2013 is moved to synonymy of G. phlyarius. A spermatophore was found in the organ situated next to the gametolytic sac in one specimen. This suggests that this organ in the Plectopylidae is a diverticulum. Statistically significant evidence is presented for the presence of calcareous hook-like granules inside the penis being associated with the absence of embryos in the uterus in four genera. This suggests that these probably play a role in mating periods before disappearing when embryos develop. Sicradiscus mansuyi is reported from China for the first time.

  12. Depressive symptoms in Chinese family caregivers of patients with heart failure

    Science.gov (United States)

    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

  13. 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.

  14. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

    Science.gov (United States)

    Wang, Yun; Wang, Zhi; Chen, Mengping; Fan, Ning; Yang, Jie; Liu, Lu; Wang, Ying; Liu, Xuyang

    2015-01-01

    Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively. The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families. Four non-consanguineous OCA families were included in the study. The TYR and OCA2 genes of all individuals were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database. Four patients with a diagnosis of oculocutaneous albinism, presented with milky skin, white or light brown hair and nystagmus. Genetic analyses demonstrated that patient A was compound heterozygous for c.1037-7T.A, c.1037-10_11delTT and c.1114delG mutations in the TYR gene; patient B was heterozygous for c.593C>T and c.1426A>G mutations in the OCA2 gene, patients C and D were compound heterozygous mutations in the TYR gene (c.549_550delGT and c.896G>A, c.832C>T and c.985T>C, respectively). The heterozygous c.549_550delGT and c.1114delG alleles in the TYR gene were two novel mutations. Interestingly, heterozygous members in these pedigrees who carried c.1114delG mutations in the TYR gene or c.1426A>G mutations in the OCA2 gene presented with blond or brown hair and pale skin, but no ocular disorders when they were born; the skin of these patients accumulated pigment over time and with sun exposure. This study expands the mutation spectrum of oculocutaneous albinism. It is the first time, to the best of our knowledge, to report that c.549_550delGT and c.1114delG mutations in the TYR gene were associated with OCA. The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene) may be responsible for partial clinical manifestations of OCA.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  18. 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.

  19. French influence in Serbia 1835-1914 four generations of “Parisians”

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    Bataković Dušan T.

    2010-01-01

    Full Text Available The members of four generations of the national elite known as “Parisians” played a prominent role in the political development of modern Serbia. Liberals, Progressives, Radicals and Independent Radicals profoundly shaped the process of espousing and pursuing modern political principles and values in nineteenth-century Serbia. Implementing and creatively adapting French models and doctrines, the “Parisians” largely contributed to the democratization and Europeanization of Serbia and the eminent place the French influence had in her politics and culture before the First World War.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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.

  5. 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

  6. Functional Pathways of Social Support for Mental Health in Work and Family Domains Among Chinese Scientific and Technological Professionals.

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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

  8. 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.

  9. Complex Interaction of Hb Q-Thailand with α0- and β0-Thalassemia in a Chinese Family.

    Science.gov (United States)

    He, Sheng; Qin, Qian; Lin, Li; Chen, Qiuli; Yi, Shang; Wei, Honhwei; Du, Juan; Zheng, Chenguang; Qiu, Xiaoxia; Chen, Biyan

    2017-01-01

    Hb Q-Thailand [α74(EF3)Asp→His (α1); HBA1: c.223 G>C] is an abnormal hemoglobin (Hb), variant found mainly in China and Southeast Asian countries. The association of the α Q -Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report a hitherto undescribed condition of patients with a double heterozygosity for Hb Q-Thailand with α 0 -thalassemia (α 0 -thal) and in combination with β 0 -thalassemia (β 0 -thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies.

  10. Rh(D) fraction incompatibility causing hemolytic disease of the newborn. Report of two cases in a Chinese family.

    Science.gov (United States)

    Lee, S K; Tham, K T; Cheung, K P; Jenkins, W J

    1982-07-01

    Two cases of hemolytic disease of new born in a Chinese family are reported. The hemolysis was due to the production in the mother of antibodies against fractions A, C, and D of Rh(D) antigen. The fractions were absent in the mother's red blood cells which are Rh(DB) but present in her babies. Rh(DB) may be detected by the use of two types of anti-D sera, one with and the other without anti-DB activity. For transfusion purpose, all DB patients so tested, would be regarded as Rh(D) negative.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

  13. 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.

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

    Science.gov (United States)

    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

  15. Psychological Stress and Parenting Behavior among Chinese Families: Findings from a Study on Parent Education for Economically Disadvantaged Families

    Science.gov (United States)

    Lam, Ching Man

    2011-01-01

    With the recognition of the crucial role of family and with the belief that parents have the greatest influence on a child's life, family and parent education has been widely practiced in Hong Kong and many other countries as measure for poverty alleviation. A study, employed quantitative method of a cross-sectional parent survey (N = 10,386) was…

  16. U.S. Families' Adoption of Chinese Daughters: A Narrative Analysis of Family Themes in Children's Books

    Science.gov (United States)

    Fitzpatrick, Jacki; Kostina-Ritchey, Erin

    2013-01-01

    The purpose of this qualitative study was to examine the ways in which family formation processes were presented in international children's adoption books. Guided by Pinderhughes' (1996) adoptive family development model, we conducted a content analysis for the representation of two developmental phases (anticipation and accommodation). A total…

  17. Four Generations of Transition State Analogues for Human Purine Nucleoside Phosphorylase

    Energy Technology Data Exchange (ETDEWEB)

    Ho, M.; Shi, W; Rinaldo-Mathis, A; Tyler, P; Evans, G; Almo, S; Schramm, V

    2010-01-01

    Inhibition of human purine nucleoside phosphorylase (PNP) stops growth of activated T-cells and the formation of 6-oxypurine bases, making it a target for leukemia, autoimmune disorders, and gout. Four generations of ribocation transition-state mimics bound to PNP are structurally characterized. Immucillin-H (K*{sub i} = 58 pM, first-generation) contains an iminoribitol cation with four asymmetric carbons. DADMe-Immucillin-H (K*{sub i} = 9 pM, second-generation), uses a methylene-bridged dihydroxypyrrolidine cation with two asymmetric centers. DATMe-Immucillin-H (K*{sub i} = 9 pM, third-generation) contains an open-chain amino alcohol cation with two asymmetric carbons. SerMe-ImmH (K*{sub i} = 5 pM, fourth-generation) uses achiral dihydroxyaminoalcohol seramide as the ribocation mimic. Crystal structures of PNPs establish features of tight binding to be; (1) ion-pair formation between bound phosphate (or its mimic) and inhibitor cation, (2) leaving-group interactions to N1, O6, and N7 of 9-deazahypoxanthine, (3) interaction between phosphate and inhibitor hydroxyl groups, and (4) His257 interacting with the 5{prime}-hydroxyl group. The first generation analogue is an imperfect fit to the catalytic site with a long ion pair distance between the iminoribitol and bound phosphate and weaker interactions to the leaving group. Increasing the ribocation to leaving-group distance in the second- to fourth-generation analogues provides powerful binding interactions and a facile synthetic route to powerful inhibitors. Despite chemical diversity in the four generations of transition-state analogues, the catalytic site geometry is almost the same for all analogues. Multiple solutions in transition-state analogue design are available to convert the energy of catalytic rate enhancement to binding energy in human PNP.

  18. 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.

  19. Chinese familial tradition and Western influence: a case study in Singapore on decision making at the end of life.

    Science.gov (United States)

    Ho, Zheng Jie Marc; Radha Krishna, Lalit Kumar; Yee, Chung Pheng Alethea

    2010-12-01

    Decision making for an incompetent patient at the end of life is difficult for both family members and physicians alike. Often, palliative care teams are tasked with weaving through opinions, emotions, and goals in search for an amenable solution. Occasionally, these situations get challenging. We present the case of an elderly Chinese Singaporean with metastatic cancer, whose family and physicians had conflicting goals of care. The former was adamant on treating the patient's disease with an untested drug, whereas the latter aimed to treat his symptoms with more conventional medication. Drug-drug interactions prevented treatment with both. Beginning with a discussion of the patient's best interest, we delve into the Singaporean context to show how culture affects medical decision making. Confucianism and filial piety are the values on which this family's workings were based. In an analysis of what this entails, we attempt to explain the significant and assertive family involvement in the decision-making process and their insistence on using novel medications, having exhausted conventional interventions. Within this mix were Western influences, too. Through the Internet, family members have become more informed and empowered in decision making, wresting the traditional paternalistic role of physicians in favor of "patient autonomy." An understanding of such dynamic facets will help better tailor culturally appropriate approaches to such complex situations. Copyright © 2010 U.S. Cancer Pain Relief Committee. Published by Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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

  1. Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

    Directory of Open Access Journals (Sweden)

    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.

  2. The Effects of Antismoking Messages From Family, School, and Mass Media on Smoking Behavior and Smoking Intention Among Chinese Adolescents.

    Science.gov (United States)

    Yu, Shaohua; Koplan, Jeffrey; Eriksen, Michael P; Yao, Shuo; Redmon, Pamela; Song, Julia; Uretsky, Elanah; Huang, Cheng

    2015-01-01

    The prevalence of adolescent smoking has been increasing rapidly in China. Expanding adolescent exposure to antismoking messages may be an effective approach to prevent tobacco use among this population. Using a cross-sectional sample of 8,444 high school students in four Chinese cities, this study assessed the relation between self-reported exposure to antismoking messages from families, schools, and mass media and the rate of past 30-day smoking and smoking intention among junior and senior high school students. Results from logistic regression suggested that antismoking messages delivered via school and media inhibited both tobacco use and the intention to smoke. The effects of familial warnings about harmful effects of smoking, in contrast, were at best insignificant.

  3. First Report of a Chinese Family Carrying a Double Heterozygosity for Hb Q-Thailand and Hb J-Bangkok.

    Science.gov (United States)

    Jiang, Fan; Zhou, Jian-Ying; Yan, Jin-Mei; Lu, Yue-Cheng; Li, Dong-Zhi

    2016-11-01

    The double heterozygosity for α and β chain variants leads to the formation of abnormal heterodimer hybrids, which could render laboratory diagnostics in a routine setting difficult. The following is the first report of a double heterozygosity for Hb Q-Thailand [α74(EF3)Asp→His; HBA1: c.223G>C] with α + -thalassemia (α + -thal) and Hb J-Bangkok [β56(D7)Gly→Asp; HBB: c.170G>A] found in a Chinese family. Both subjects were healthy with normal or borderline hematological parameters. Hemoglobin (Hb) analyses showed a novel variant, Hb Q-Thailand and Hb J-Bangkok. Family studies helped in the initial recognition and in making presumptive diagnoses, but definitive diagnoses of these cases with complex α and β chain variants could only be obtained after DNA analysis.

  4. Perceived Social Change, Parental Control, and Family Relations: A Comparison of Chinese Families in Hong Kong, Mainland China, and the United States.

    Science.gov (United States)

    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.

  5. Perceived Social Change, Parental Control, and Family Relations: A Comparison of Chinese Families in Hong Kong, Mainland China, and the United States

    Science.gov (United States)

    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

  6. Perceived Social Change, Parental Control, and Family Relations: A Comparison of Chinese Families in Hong Kong, Mainland China, and the United States

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

  9. Differences in lifestyle behaviors, dietary habits, and familial factors among normal-weight, overweight, and obese Chinese children and adolescents.

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  11. Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family

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    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.

  12. 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

  13. 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.

  14. Parent Involvement in Children's Education: An Exploratory Study of Urban, Chinese Immigrant Families

    Science.gov (United States)

    Ji, Cheng Shuang; Koblinsky, Sally A.

    2009-01-01

    This exploratory study examined the involvement of Chinese immigrant parents in children's elementary and secondary education. Participants were 29 low-income, urban parents of public school children working primarily in the hospitality sector. Parents were interviewed about their academic expectations, knowledge of school performance, parent…

  15. Effectiveness of Parent-Child Interaction Therapy (PCIT) among Chinese Families

    Science.gov (United States)

    Leung, Cynthia; Tsang, Sandra; Heung, Kitty; Yiu, Ivan

    2009-01-01

    Objective: This study examined the effectiveness of Parent-Child Interaction Therapy (PCIT) among Chinese parents and children in Hong Kong with significant behavior problems. Method: The participants (intervention group, 48; comparison group, 62) completed questionnaires on child behavior problems and parenting stress before and after…

  16. Family-School Relations as Social Capital: Chinese Parents in the United States

    Science.gov (United States)

    Wang, Dan

    2008-01-01

    Guided by both Coleman and Bourdieu's theories on social capital, I interviewed Chinese immigrant parents to understand their experiences in weaving social connections with the school and teachers to benefit their children's education. This study confirms Coleman's argument that human capital in parents will not transfer to the children…

  17. The Interdependent Family-Centric Career: Career Perspective of the Overseas Chinese in Indonesia

    Science.gov (United States)

    Pekerti, Andre A.

    2008-01-01

    This theoretical article presents an interdisciplinary approach to extend the scope of current career theories and their application to the overseas Chinese (OC) in Indonesia. Using an ecological model to analyze culture and an emic perspective, the article discusses several factors that affect careers of OC Indonesians. Factors such as culture,…

  18. 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.

  19. Personal and Family Correlates of Suicidal Ideation among Chinese Adolescents in Hong Kong

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    Lai Kwok, Sylvia Y. C.; Shek, Daniel T. L.

    2010-01-01

    Based on the family ecological model, personal (hopelessness, social problem solving, emotional competence) and family (parent-adolescent communication, family functioning) quality of life measures related to adolescent suicidal ideation were examined in 5,557 Secondary 1 to Secondary 4 students in Hong Kong. Results showed that suicidal ideation…

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. 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

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

    Science.gov (United States)

    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

  6. How Activism Features in the Career Lives of Four Generations of Canadian Nurses.

    Science.gov (United States)

    MacDonnell, Judith A; Buck-McFadyen, Ellen

    2016-11-01

    Recent nursing research using a critical feminist lens challenges the prevailing view of political inertia in nursing. This comparative life history study using a critical feminist lens explores the relevance of activism with four generations of Canadian nurses. Purposeful sampling of Ontario nurses resulted in 40 participants who were diverse in terms of generation, practice setting, and activist practice. Interviews and focus groups were completed with the sample of Ontario registered nurses or undergraduate and graduate nursing students: 8 Generation X, 9 Generation Y (Millennials), 20 Boomers, and 3 Overboomers. Factors such as professional norms and personal and organizational supports shaped contradictory nursing activist identities, practices, and impacts. Gendered norms, organizational dynamics, and the political landscape influenced the meanings nurses attributed to critical incidents and influences that prompted activism inside and outside the workplace, shaping the transformative potential of nursing. Despite its limitations, the study has implications for creating professional and organizational supports for consideration of health politics and policy, and spaces for dialogue to support practice and research aligned with social justice goals.

  7. 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.

  8. 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.

  9. A novel potential biomarker for metabolic syndrome in Chinese adults: Circulating protein disulfide isomerase family A, member 4.

    Science.gov (United States)

    Chien, Chu-Yen; Hung, Yi-Jen; Shieh, Yi-Shing; Hsieh, Chang-Hsun; Lu, Chieh-Hua; Lin, Fu-Huang; Su, Sheng-Chiang; Lee, Chien-Hsing

    2017-01-01

    Protein disulfide isomerase (PDI) family members are specific endoplasmic reticulum proteins that are involved in the pathogenesis of numerous diseases including neurodegenerative diseases, cancer and obesity. However, the metabolic effects of PDIA4 remain unclear in humans. The aims of this study were to investigate the associations of serum PDIA4 with the metabolic syndrome (MetS) and its components in Chinese adults. A total of 669 adults (399 men and 270 women) were recruited. Serum PDIA4 concentrations and biochemical variables were recorded. Insulin sensitivity and β-cell function were examined by homeostasis model assessment. MetS was defined based on the modified National Cholesterol Education Program Adult Treatment Panel III criteria for Asia Pacific. The participants with MetS had significantly higher serum PDIA4 levels than those without MetS (Pmetabolic syndrome were 67 and 72%, respectively, in male patients and 60 and 78%, respectively, in female patients. Finally, the result showed that PDIA4 had a significantly higher area under the curve compared with blood pressure to detect MetS using receiver operating characteristic analysis. Serum PDIA4 concentrations are closely associated to MetS and its components in Chinese adults.

  10. Chinese American immigrant parents' emotional expression in the family: Relations with parents' cultural orientations and children's emotion-related regulation.

    Science.gov (United States)

    Chen, Stephen H; Zhou, Qing; Main, Alexandra; Lee, Erica H

    2015-10-01

    The present study examined 2 measures of Chinese American immigrant parents' emotional expression in the family context: self-reported emotional expressivity and observed emotional expression during a parent-child interaction task. Path analyses were conducted to examine the concurrent associations between measures of emotional expression and (a) parents' American and Chinese cultural orientations in language proficiency, media use, and social affiliation domains, and (b) parents' and teachers' ratings of children's emotion-related regulation. Results suggested that cultural orientations were primarily associated with parents' self-reported expressivity (rather than observed emotional expression), such that higher American orientations were generally associated with higher expressivity. Although parents' self-reported expressivity was only related to their own reports of children's regulation, parents' observed emotional expression was related to both parents' and teachers' reports of children's regulation. These results suggest that self-reported expressivity and observed emotional expression reflect different constructs and have differential relations to parents' cultural orientations and children's regulation. (c) 2015 APA, all rights reserved).

  11. 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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  15. 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.

  16. 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.

  17. "Do I Have a Choice?" The Influences of Family Values and Investments on Chinese Migrant Young People's Lifestyles and Physical Activity Participation in Australia

    Science.gov (United States)

    Pang, Bonnie; Macdonald, Doune; Hay, Peter

    2015-01-01

    This paper examines Chinese migrant young people's lifestyles and physical activity experiences in relation to the values and cultural investments of their families in Australia. The data in this paper were taken from a larger-scale study underpinned by a critical and interpretive ethnographic method conducted in two school sites. The young…

  18. "Do You Know Your Language?" How Teachers of Punjabi and Chinese Ancestries Construct Their Family Languages in Their Personal and Professional Lives.

    Science.gov (United States)

    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)

  19. 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…

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

    Science.gov (United States)

    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.

  1. A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.

    Science.gov (United States)

    He, Xiaoguang; Peng, Qi; Li, Siping; Zhu, Pengyuan; Wu, Chunqiu; Rao, Chunbao; Lin, Jingqi; Lu, Xiaomei

    2017-08-01

    We aimed to investigate the genetic causes of hearing loss in a Chinese proband with autosomal recessive congenital deafness. The targeted capture of 159 known deafness genes and next-generation sequencing were performed to study the genetic causes of hearing loss in the Chinese family. Sanger sequencing was employed to verify the variant mutations in members of this family. The proband harbored two mutations in the MYO7A gene in the form of compound heterozygosity. She was found to be heterozygous for a novel insertion mutation c.3847_3848 ins TCTG (p.N1285LfsX24) in exon 30 and for the known mutation c.2239_2240delAG (p.R747S fsX16)in exon 19. The novel mutation was absent in the 1000 Genomes Project. These variants were carried in the heterozygous state by the parents and were therefore co-segregated with the genetic disease. Clinical re-assessment, including detailed audiologic and ocular examinations, revealed congenital deafness and retinitis pigmentosa in the proband. Collectively, the combination of audiometric, ophthalmologic and genetic examinations successfully confirmed the phenotype of Usher syndrome type 1 (USH1). This study demonstrates that the novel mutation c.3847_3848insTCTG (p. N1285LfsX24) in compound heterozygosity with c.2239_2240delAG in the MYO7A gene is the main cause of USH1 in the proband. Our study expands the mutational spectrum of MYO7A and provides a foundation for further investigations elucidating the MYO7A-related mechanisms of USH1. Copyright © 2017 Elsevier B.V. All rights reserved.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  5. Family-Concentrated Ownership in Chinese PLCs: Does Ownership Concentration Always Enhance Corporate Value?

    Directory of Open Access Journals (Sweden)

    Jin-Hui Luo

    2014-02-01

    Full Text Available In this paper we investigate the relationship between family ownership structure and corporate value across a sample of 1314 firm-year observations of China’s family publicly listed companies (PLCs, from 2004 to 2008. We find a significant inverse-U-shaped relationship between the controlling family’s ultimate cash-flow rights and corporate value; as measured by Tobin’s Q. That is, as family-ownership concentration increases, corporate value first increases and then decreases. This finding refreshes our understanding of the relationship between family-ownership concentration and corporate value in emerging economies such as found in China. We corroborate prior findings that when controlling families hold excess control over cash-flow rights, corporate value is significantly lowered, while multiple large shareholders structure is significantly associated with higher corporate value. In addition; board independence is found to significantly improve corporate value in the context of family-concentrated ownership. We also test for potential endogeneity between family ownership and corporate value and find our results to be robust.

  6. Family poly-victimization and cyberbullying among adolescents in a Chinese school sample.

    Science.gov (United States)

    Chen, QiQi; Lo, Camilla K M; Zhu, Yuhong; Cheung, Anne; Chan, Ko Ling; Ip, Patrick

    2018-03-01

    The sustained increase in their use of social networking facilitates the development of adolescents but comes with the risk of cyberbullying, which creates new challenges in regard to adolescent protection. Past evidence shows that family victimization may play an essential role in the way adolescents learn cyberbullying behaviors. Yet, research on the co-occurrence of family victimization and cyberbullying is limited. This study aims to investigate the associations between cyberbullying and family victimization among adolescents, and to examine the health correlates of cyberbullying and family poly-victimization. A large sample of 18,341 students, aged 15-17, from six cities in China, collected between 2009 and 2010 is employed in the present study, which investigated the association between various kinds of family victimization and adolescent cyberbullying. Data analysis was conducted in 2017. In-law conflict, intimate partner violence, elder abuse and neglect, and child maltreatment were associated with a higher possibility of children becoming internet victims. Parents' divorce and separation, low family income, mother's low level of education, and father's unemployment were all associated with cyberbullying victimization. Cyber victimization was positively correlated to symptoms of PTSD and depression, self-harm, and other physical and mental health variables. Possible explanations for the relationships found in this study are discussed and implications for future research and services are provided. Proactive screening for family poly-victimization and cyberbullying is suggested. Schools are highly recommended to cooperate with parents to promote cyber safety. Copyright © 2018 Elsevier Ltd. All rights reserved.

  7. Elderly’s Family Life Supplies - Innovative Chinese Checkers Game Board

    Science.gov (United States)

    CHAO, Fanglin

    2017-09-01

    The product design course for industrial design students was implemented in our university which spans 9 weeks. Throughout the creativity rules and field study, students achieve high standard on problem identification and concept generation. The prototype test with elderly in design projects is helpful to make students with deeper understand user demand, which in turn enhance the concept further. Traditional Chinese checkers are redesigned using special checkers with different height or shape and specific rules to increase user interest and game diversity. Game is more challenging due to location weighting on score calculation to planning its strategies. Redesign Chinese checkers game board include reconfigurable board and several shape checkers. Checkers has 3 parts: standing ring body, the base body, both support the side holding structure. The body shows slightly concave to facilitate the fingers hold. The upper portion of the body is provided with different shapes extension section which can be engaged with base body. Player move the checker to the opposite target area. When one of player moved all the checkers to the opposite target area; they shift to the scoring calculation stage. The participant may develop specific strategy to gain higher score by maximized weighted checkers into its target block regions.

  8. From School-Culture-to-Family-Culture: Reflections on Four Generations of a Deweyan Education in Hawai'i

    Science.gov (United States)

    Makaiau, Amber Strong

    2015-01-01

    In 1918, the author's great great aunt, Sophie Judd Cooke founded a small progressive school in Honolulu. Her brother Henry named it Hanahau'oli School, which means joyful work school. In this essay the author's mother, Linda Summers Strong and the author reflect on the impact of Hanahau'oli School's Deweyan approach to education on the…

  9. 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

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

    Science.gov (United States)

    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.

  11. Epibulbar lipodermoids, preauricular appendages and polythelia in four generations: a new hereditary syndrome?

    DEFF Research Database (Denmark)

    Goldschmidt, Ernst; Jacobsen, Nina

    2010-01-01

    A new syndrome with abnormalities along the first branchial arch and the milk list is described in a family of four affected generations. The characteristics of the syndrome are epibulbar lipodermoids, preauricular appendages and polythelia. The expressivity varies but all affected have supernume......A new syndrome with abnormalities along the first branchial arch and the milk list is described in a family of four affected generations. The characteristics of the syndrome are epibulbar lipodermoids, preauricular appendages and polythelia. The expressivity varies but all affected have...

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

    Science.gov (United States)

    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

  13. Measuring HIV stigma at the family level: psychometric assessment of the Chinese Courtesy Stigma Scales (CCSSs).

    Science.gov (United States)

    Liu, Hongjie; Xu, Yongfang; Sun, Yehuan; Dumenci, Levent

    2014-01-01

    Courtesy stigma is the stigmatization a person perceives or experiences due to their association with a stigmatized individual or group. Most HIV-related stigma scales have been developed for people living with HIV/AIDS (PLWHAs), but not for their HIV-uninfected family members. To date, few measurement scales have been designed to measure the degree of stigma among both PLWHAs and their HIV-uninfected family members at the family level. We developed a set of courtesy stigma scales and estimated their reliability and validity from 256 PLWHAs and 256 of their HIV-uninfected family members. Exploratory and confirmatory factor analyses were performed in two independent samples: a development sample (N = 216) and a validation sample (N = 296), respectively. Two factors ("public stigma" and "self-perceived stigma") had high internal consistency reliability (Cronbach's alpha coefficient between 0.83-0.90) and good construct validity (standardized factor loading range: 0.37-0.95) in both samples. These findings document that the newly developed brief instrument is a psychometrically sound measure of HIV-related stigma among both PLWHAs and their HIV-uninfected family members.

  14. 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.

    Science.gov (United States)

    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.

  15. Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3.

    Directory of Open Access Journals (Sweden)

    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.

  16. 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

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

    Science.gov (United States)

    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…

  18. My Future, My Family, My Freedom: Meanings of Schooling for Poor, Rural Chinese Youth

    Science.gov (United States)

    Xiang, Xin

    2018-01-01

    In this article, Xin Xiang investigates what dushu, or "schooling," means for rural senior secondary school students in a high-poverty county in southwestern China. With the persistence of China's rural-urban education inequality and alarming reports about secondary school dropout rates, rural students' and their families' attitudes…

  19. Marital Quality, Maternal Depressed Affect, Harsh Parenting, and Child Externalising in Hong Kong Chinese Families

    Science.gov (United States)

    Chang, Lei; Lansford, Jennifer E.; Schwartz, David; Farver, Joann M.

    2004-01-01

    The present study used a family systems approach to examine harsh parenting, maternal depressed affect, and marital quality in relation to children's externalising behaviour problems in a sample of 158 Hong Kong primary school children. At two time points, peers and teachers provided ratings of children's externalising behaviours, and mothers…

  20. Language Socialization and Interculturality: Address Terms in Intergenerational Talk in Chinese Diasporic Families

    Science.gov (United States)

    Hua, Zhu

    2010-01-01

    This paper aims to contribute to the current debate on "interculturality" (IC) by investigating the process of language socialization whereby different generations of diasporic families negotiate, construct, and renew their sociocultural values and identities through interaction. Focusing on the use of address terms and "talk about social,…

  1. Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia.

    Directory of Open Access Journals (Sweden)

    Wen-Feng Wu

    Full Text Available Familial hypercholesterolemia is an autosomal dominant inherited disease characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C. It is mainly caused by mutations of the low-density lipoprotein receptor (LDLR gene. Currently, the methods of whole genome sequencing or whole exome sequencing for screening mutations in familial hypercholesterolemia are not applicable in China due to high cost. We performed targeted exome sequencing of 167 genes implicated in the homozygous phenotype of a proband pedigree to identify candidate mutations, validated them in the family of the proband, studied the functions of the mutant protein, and followed up serum lipid levels after treatment. We discovered that exon 9 c.1268 T>C and exon 8 c.1129 T>G compound heterozygous mutations in the LDLR gene in the proband derived from the mother and father, respectively, in which the mutation of c.1129 T>G has not been reported previously. The mutant LDL-R protein had 57% and 52% binding and internalization functions, respectively, compared with that of the wild type. After 6 months of therapy, the LDL-C level of the proband decreased by more than 50% and the LDL-C of the other family members with heterozygous mutation also reduced to normal. Targeted exome sequencing is an effective method for screening mutation genes in familial hypercholesterolemia. The exon 8 and 9 mutations of the LDLR gene were pedigree mutations. The functions of the mutant LDL-R protein were decreased significantly compared with that of the wild type. Simvastatin plus ezetimibe was proven safe and effective in this preschool-age child.

  2. A prospective cohort study to investigate parental stress and child health in low-income Chinese families: protocol paper.

    Science.gov (United States)

    Wong, Rosa Sze Man; Yu, Esther Yee Tak; Guo, Vivian Yawei; Wan, Eric Yuk-Fai; Chin, Weng-Yee; Wong, Carlos King Ho; Fung, Colman Siu Cheung; Tung, Keith Tsz Suen; Wong, Wilfred Hing-Sang; Ip, Patrick; Tiwari, Agnes Fung Yee; Lam, Cindy Lo Kuen

    2018-02-22

    Chronic stress has adverse effects on health. Adults and children from low-income families are subject to multiple sources of stress. Existing literature about economic hardship mostly focuses on either adults or children but not both. Moreover, there is limited knowledge on the relationship between parental generalised stress and child health problems. This study aims to explore the bidirectional relationship between parental stress and child health in Chinese low-income families and to identify other modifiable factors influencing this relationship. This prospective cohort study will sample 254 low-income parent-child pairs and follow them up for 24 months with assessments at three time points (baseline, 12 and 24 months) on parental stress, health-related quality of life (HRQOL) and child health and behaviour using both subjective measures and objective physiological parameters. This study will collect data using standardised measures on HRQOL and behaviours of children as well as on HRQOL, mental health and stress levels of parents along with physiological tests of allostatic load and telomere length. The mediating or moderating effect of family harmony, parenting style and neighbourhood conditions will also be assessed. Data will be analysed using latent growth modelling and cross-lagged path analysis modelling to examine the bidirectional effect of parental stress and child health over time. Mediation and moderation analysis will also be conducted to examine the mechanism by which the variables relate. This study was approved by the institutional review board of the University of Hong Kong-the Hospital Authority Hong Kong West Cluster, reference no: UW 16-415. The study findings will be disseminated through peer-reviewed publications and international conferences. NCT03185273; Pre-results. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise

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

    Directory of Open Access Journals (Sweden)

    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.

  4. [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

    Science.gov (United States)

    Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

    2014-08-01

    To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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

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

    Directory of Open Access Journals (Sweden)

    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

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    International Nuclear Information System (INIS)

    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

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

    Science.gov (United States)

    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.

  12. CYP gene family variants as potential protective factors in drug addiction in Han Chinese.

    Science.gov (United States)

    Zhang, Hongxing; Yang, Qi; Zheng, Wenkai; Ouyang, Yongri; Yang, Min; Wang, Fengjiao; Jin, Tianbo; Zhang, Ji; Wang, Zhenyuan

    2016-08-01

    There is growing evidence that genetic factors also contribute to drug addiction. The human cytochrome P450 has shown special interest because of pharmacokinetic variation in different individuals and populations, which is largely determined by the relevant genes. The present study aimed to investigate the polymorphism of the CYP/addicts relationship. We genotyped 13 tag single-nucleotide polymorphisms (tSNPs) from three genes, including 692 cases and 700 controls. Sequenom MassARRAY RS1000 (Sequenom, Inc., San Diego, CA, USA) was used for SNP genotyping. Statistical analysis of the association between tSNPs and drug addiction was performed using the chi-squared test and SNP Stats software (http://bioinfo.iconcologia.net). The T/T genotype of rs2242480 in CYP3A4 was associated with decreased risk in the recessive model (p = 0.0002). Allele frequency at rs3743484 in CYP1A2 showed significant differences between addicts and controls (p = 0.046; odds ratio = 0.80; 95% confidence interval = 0.65-1.00). In genetic model analyses, the minor C allele of rs3743484 in CYP1A2 was associated with a reduced risk of drug addiction based on analysis using codominant and additive models (p = 0.027 dominant model; p =0.038 additive model). Our findings show that at allelic and genotypic level polymorphisms in CYP3A4 and CYP1A2 are significantly associated with a reduced risk of drug addiction in X'ian Han Chinese individuals. However, this result needs to be confirmed in additional studies. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  15. Natural R parity conservation with horizontal symmetries: A four generation model

    International Nuclear Information System (INIS)

    Berezhiani, Z.; Nardi, E.

    1995-01-01

    In most supersymmetric models the stability of the proton is ensured by invoking R parity. A necessary ingredient to enforce R parity is the possibility of distinguishing the lepton superfields from the Higgs ones. This is generally achieved either by assuming different charges under some matter parity, or by assigning the superfields to different representations of a unified gauge group. We want to put forward the idea that the replica of the fermion generations, which constitute an intrinsic difference between the fermions and the Higgs superfields, can give a clue to understanding R parity as an accidental symmetry. More ambitiously, we suggest a possible relation between proton stability and the actual number of fermion generations. We carry out our investigation in the framework of non-Abelian horizontal gauge symmetries. We identify SU(4) H as the only acceptable horizontal gauge group which can naturally ensure the absence of R-parity-violating operators, without conflicting with other theoretical and phenomenological constraints. We analyze a version of the supersymmetric standard model equipped with a gauged horizontal SU(4) H , in which R parity is accidental. The model predicts four families of fermions, it allows for the dynamical generation of a realistic hierarchy of fermion masses without any ad hoc choice of small Yukawa couplings; it ensures in a natural way the heaviness of all the fourth family fermions (including the neutrino), and it predicts a lower limit for the τ-neutrino mass of a few eV. The scale of the breaking of the horizontal symmetry can be constrained rather precisely in a narrow window around ∼10 11 GeV. Some interesting astrophysical and cosmological implications of the model are addressed as well

  16. A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family

    Science.gov (United States)

    Zhang, Liping; Shi, Wei; Song, Liming; Zhang, Xiao; Cheng, Lulu; Wang, Yanfang; Ge, Xianglian; Li, Wei; Zhang, Wei; Min, Qingjie; Jin, Zi-Bing; Qu, Jia; Gu, Feng

    2014-11-01

    Autosomal dominant optic atrophy (ADOA) is the most frequent form of hereditary optic neuropathy and occurs due to the degeneration of the retinal ganglion cells. To identify the genetic defect in a family with putative ADOA, we performed capture next generation sequencing (CNGS) to screen known retinal disease genes. However, six exons failed to be sequenced by CNGS in optic atrophy 1 gene (OPA1). Sequencing of those exons identified a 4 bp deletion mutation (c.2983-1_2985del) in OPA1. Furthermore, we sequenced the transcripts of OPA1 from the patient skin fibroblasts and found there is six-nucleotide deletion (c.2984-c.2989, AGAAAG). Quantitative-PCR and Western blotting showed that OPA1 mRNA and its protein expression have no obvious difference between patient skin fibroblast and control. The analysis of protein structure by molecular modeling suggests that the mutation may change the structure of OPA1 by formation of an alpha helix protruding into an existing pocket. Taken together, we identified an OPA1 mutation in a family with ADOA by filling the missing CNGS data. We also showed that this mutation affects the structural intactness of OPA1. It provides molecular insights for clinical genetic diagnosis and treatment of optic atrophy.

  17. A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.

    Science.gov (United States)

    Wang, Xiong; Zhu, Yaowu; Shen, Na; Peng, Jing; Wang, Chunyu; Liu, Haiyi; Lu, Yanjun

    2017-01-27

    Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A-C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. This study investigated a genetic mutation in a Chinese family with one WS4 patient in order to improve genetic counselling. Genomic DNA was extracted, and mutation analysis of the three WS4 related genes was performed using Sanger sequencing. We detected a de novo heterozygous deletion mutation [c.1333delT (p.Ser445Glnfs*57)] in SOX10 in the patient; however, this mutation was absent in the unaffected parents and 40 ethnicity matched healthy controls. Subsequent phylogenetic analysis and three-dimensional modelling of the SOX10 protein confirmed that the c.1333delT heterozygous mutation was pathogenic, indicating that this mutation might constitute a candidate disease-causing mutation.

  18. 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.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

  1. Bullying Victimization Among Chinese Middle School Students: The Role of Family Violence.

    Science.gov (United States)

    Zhu, Yuhong; Chan, Ko Ling; Chen, Jinsong

    2018-06-01

    This study used the data from a representative sample to investigate the association between family violence (FV) and child bullying victimization (BV) in Xi'an city, China. Data on social demographic information and the prevalence of BV and FV were collected from a randomly selected sample with 3,175 middle school students aged 15 to 17 by self-administrated questionnaires. Results show that 55.9% and 30.3% of the participants have witnessed intimate partner violence (IPV), 37.7% and 30.8% have been victims of child abuse, and 54.9% and 44.6% have been bullied in a lifetime and in the preceding year, respectively. The lifetime and preceding-year co-occurrence rate of FV and BV are 45% and 30.4%, respectively. Multiple logistic regressions confirm FV as a unique risk factor in predicting both direct and relational BV after controlling for a number of confounding factors. This study suggests that FV experiences should be included in the screening and assessment of risk for child BV.

  2. 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.

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

    Science.gov (United States)

    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.

  4. 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

  5. Clinical features and growth hormone receptor gene mutations of patients with Laron syndrome from a Chinese family.

    Science.gov (United States)

    Ying, Yan-Qin; Wei, Hong; Cao, Li-Zhi; Lu, Juan-Juan; Luo, Xiao-Ping

    2007-08-01

    Laron syndrome is an autosomal recessive disorder caused by defects of growth hormone receptor (GHR) gene. It is characterized by severe postnatal growth retardation and characteristic facial features as well as high circulating levels of growth hormone (GH) and low levels of insulin-like growth factor I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3). This report described the clinical features and GHR gene mutations in 2 siblings with Laron syndrome in a Chinese family. Their heights and weights were in the normal range at birth, but the growth was retarded after birth. When they presented to the clinic, the heights of the boy (8 years old) and his sister (11 years old) were 80.0 cm (-8.2 SDS) and 96.6 cm (-6.8 SDS) respectively. They had typical appearance features of Laron syndrome such as short stature and obesity, with protruding forehead, saddle nose, large eyes, sparse and thin silky hair and high-pitched voice. They had higher basal serum GH levels and lower serum levels of IGF-I, IGFBP-3 and growth hormone binding protein (GHBP) than normal controls. The peak serum GH level after colonidine and insulin stimulations in the boy was over 350 ng/mL. After one-year rhGH treatment, the boy's height increased from 80.0 cm to 83.3 cm. The gene mutation analysis revealed that two patients had same homozygous mutation of S65H (TCA -->CCA) in exon 4, which is a novel gene mutation. It was concluded that a definite diagnosis of Laron syndrome can be made based on characteristic appearance features and serum levels of GH, IGF-I, IGFBP-3 and GHBP. The S65H mutation might be the cause of Laron syndrome in the two patients.

  6. Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer.

    Science.gov (United States)

    Kuo, Wen-Hong; Lin, Po-Han; Huang, Ai-Chu; Chien, Yin-Hsiu; Liu, Tsang-Pai; Lu, Yen-Shen; Bai, Li-Yuan; Sargeant, Aaron M; Lin, Ching-Hung; Cheng, Ann-Lii; Hsieh, Fon-Jou; Hwu, Wuh-Liang; Chang, King-Jen

    2012-02-01

    Although evidence suggests an importance of genetic factors in the development of breast cancer in Taiwanese (ethnic Chinese) women, including a high incidence of early-onset and secondary contralateral breast cancer, a major breast cancer predisposition gene, BRCA1, has not been well studied in this population. In fact, the carcinogenic impacts of many genetic variants of BRCA1 are unknown and classified as variants of uncertain significance (VUS). It is therefore important to establish a method to characterize the BRCA1 VUSs and understand their role in Taiwanese breast cancer patients. Accordingly, we developed a multimodel assessment strategy consisting of a prescreening portion and a validated functional assay to study breast cancer patients with early-onset, bilateral or familial breast cancer. We found germ-line BRCA1 mutations in 11.1% of our cohort and identified one novel missense mutation, c.5191C>A. Two genetic variants were initially classified as VUSs (c.1155C>T and c.5191C>A). c.1155C>T is not predicted to be deleterious in the prescreening portion of our assessment strategy. c.5191C>A, on the other hand, causes p.T1691K, which is predicted to have high deleterious probability because of significant structural alteration, a high deleterious score in the predictive programs and, clinically, triple negative characteristics in breast tumors. This mutant is confirmed by transcription activation and yeast growth-inhibition assays. In conclusion, we show as high a prevalence of germ-line BRCA1 mutation in high-risk Taiwanese patients as in Caucasians and demonstrate a useful strategy for studying BRCA1 VUSs.

  7. 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.

  8. 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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  12. Work and family stress is associated with menstrual disorders but not with fibrocystic changes: cross-sectional findings in Chinese working women.

    Science.gov (United States)

    Zhou, Mei; Wege, Natalia; Gu, Huakang; Shang, Li; Li, Jian; Siegrist, Johannes

    2010-01-01

    To explore the separate and combined effects of work and family stress on menstrual disorders and fibrocystic changes in Chinese working women. Data were obtained from a cross-sectional study of 1,642 female railway workers. The Effort-Reward Imbalance Questionnaire and Family Stress Scale were used to measure work stress and family stress, respectively; the menstrual and breast conditions were evaluated by gynecologic interview and a medical examination. Multivariate log-binomial regression was performed to analyze the associations. Menstrual disorders were found in 59.3% of female workers, and 54.8% had fibrocystic changes. The risk of menstrual disorders was significantly elevated with respect to work and family stress. The highest risk was found in the group with combined exposure to both work and family stress (RR with 95% CI 1.33 (1.18-1.49)). No significant association between stress and fibrocystic changes was observed. Menstrual disorders were associated with stress from work and family life, but not fibrocystic changes, in working women. Tailored intervention measures reducing the burden of stressful psychosocial work and family environment are needed to improve women's reproductive well-being.

  13. Four Generations of Maintenance Resource Management Programs in the United States: An Analysis of the Past, Present, and Future

    Science.gov (United States)

    Taylor, James C.; Patankar, Manoj S.

    2001-01-01

    This paper analyzes four generations of Maintenance Resource Management (MRM) programs implemented by aviation maintenance organizations in the United States. Data collected from over ten years of survey research and field observations are used for this analysis; they are presented in a case-study format. The first three generations of MRM programs were episodic efforts to increase safety through teamwork, focus group discussions, and awareness courses, respectively. Now, the fourth generation programs, characterized by a commitment to long-term communication and behavioral changes in maintenance, are set to build on those earlier generations, toward a culture of mutual trust between mechanics, their managers, and regulators.

  14. Family income, parental education and internalizing and externalizing psychopathology among 2-3-year-old Chinese children: the mediator effect of parent-child conflict.

    Science.gov (United States)

    Zhang, Xiao

    2014-02-01

    Using a sample of 156 Chinese children aged 2-3 years and their parents, this study examined the effects of socio-economic status, specifically family income and parental education, on the children's internalizing and externalizing psychopathology and whether these effects were mediated by mother-child and father-child conflict. Results indicated that family income, maternal education and paternal education all negatively predicted externalizing symptoms. Income also negatively predicted internalizing symptoms among boys but not girls. Maternal education negatively predicted internalizing symptoms among girls but not boys. The effects of income on psychopathology were fully mediated by mother-child and father-child conflict. In contrast, the effects of education were not mediated or only partially mediated by conflict. Findings are discussed in the framework of the family stress model. © 2013 International Union of Psychological Science.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  19. Crossing the Frontier to Inland China: Family Social Capital for Minority Uighur Students in Chinese Boarding Schools

    Science.gov (United States)

    Chen, Yangbin

    2010-01-01

    This paper examines family influences on Uighur (a Muslim ethnic minority in northwestern China) students' experiences in Xinjiang classes in an inland China boarding school. Supported by the concept of family social capital, the paper argues that, although family structure becomes deficient for Uighur students away from home, their families can…

  20. Managing Heritage Language Development: Opportunities and Challenges for Chinese, Italian and Pakistani Urdu-Speaking Families in the UK

    Science.gov (United States)

    Curdt-Christiansen, Xiao Lan; La Morgia, Francesca

    2018-01-01

    Drawing on theories of family language policy and literacy environment, this inquiry explores and describes how family language policy is managed through literacy resources and literacy related activities in transnational families in the UK. A total of 66 families, each with at least one child between the age of 2 and 8, participated in this…

  1. 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

  2. Development and application of a set of mesh-based and age-dependent Chinese family phantoms for radiation protection dosimetry: Preliminary Data for external photon beams

    Science.gov (United States)

    Pi, Yifei; Zhang, Lian; Huo, Wanli; Feng, Mang; Chen, Zhi; Xu, X. George

    2017-09-01

    A group of mesh-based and age-dependent family phantoms for Chinese populations were developed in this study. We implemented a method for deforming original RPI-AM and RPI-AF models into phantoms of different ages: 5, 10 ,15 and adult. More than 120 organs for each model were processed to match with the values of the Chinese reference parameters within 0.5%. All of these phantoms were then converted to voxel format for Monte Carlo simulations. Dose coefficients for adult models were counted to compare with those of RPI-AM and RPI-AF. The results show that there are significant differences between absorbed doses of RPI phantoms and these of our adult phantoms at low energies. Comparisons for the dose coefficients among different ages and genders were also made. it was found that teenagers receive more radiation doses than adults under the same irradiation condition. This set of phantoms can be utilized to estimate dosimetry for Chinese population for radiation protection, medical imaging, and radiotherapy.

  3. Psychometric Testing of Two Chinese-Version Scales on Attitudes Toward and Caregiving Behaviors for End-of-Life Patients and Families.

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  5. 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

    2015-01-01

    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

  6. Association between Work-Family Conflict and Depressive Symptoms among Chinese Female Nurses: The Mediating and Moderating Role of Psychological Capital

    Directory of Open Access Journals (Sweden)

    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.

  7. 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.

  8. The 5-HTTLPR confers susceptibility to anorexia nervosa in Han Chinese: evidence from a case-control and family-based study.

    Science.gov (United States)

    Chen, Jue; Kang, Qing; Jiang, Wenhui; Fan, Juan; Zhang, Mingdao; Yu, Shunying; Zhang, Chen

    2015-01-01

    Accumulating evidence has implied that serotonin system dysfunction may be involved in the etiology of anorexia nervosa (AN). Serotonin-transporter-linked promoter region (5-HTTLPR) polymorphism is the genetic variant coding for the serotonin transporter and has a modulatory effect on its expression. This study aimed to investigate the possible association between the 5-HTTLPR and the susceptibility and severity of AN in Han Chinese using a case-control (255 patients and 351 controls) and family based study (198 trios). Eating disorder examination was used to measure the severity of AN behavioral symptoms. For the case-control study, the 5-HTTLPR showed significant association with AN in our sample (genotypic P = 0.03). The frequency of S allele was significantly higher in patients than that in controls (OR = 1.38, 95%CI: 1.06-1.79, P = 0.017). For the family-based study, the S allele of 5-HTTLPR was preferentially transmitted rather than non-transmitted from the parents to affected offspring (P = 0.013). The results of ANCOVA test revealed no significant association between the 5-HTTLPR polymorphism and severity of AN. Our findings suggested that 5-HTTLPR is able to confer susceptibility to AN in Han Chinese.

  9. The 5-HTTLPR confers susceptibility to anorexia nervosa in Han Chinese: evidence from a case-control and family-based study.

    Directory of Open Access Journals (Sweden)

    Jue Chen

    Full Text Available Accumulating evidence has implied that serotonin system dysfunction may be involved in the etiology of anorexia nervosa (AN. Serotonin-transporter-linked promoter region (5-HTTLPR polymorphism is the genetic variant coding for the serotonin transporter and has a modulatory effect on its expression. This study aimed to investigate the possible association between the 5-HTTLPR and the susceptibility and severity of AN in Han Chinese using a case-control (255 patients and 351 controls and family based study (198 trios. Eating disorder examination was used to measure the severity of AN behavioral symptoms. For the case-control study, the 5-HTTLPR showed significant association with AN in our sample (genotypic P = 0.03. The frequency of S allele was significantly higher in patients than that in controls (OR = 1.38, 95%CI: 1.06-1.79, P = 0.017. For the family-based study, the S allele of 5-HTTLPR was preferentially transmitted rather than non-transmitted from the parents to affected offspring (P = 0.013. The results of ANCOVA test revealed no significant association between the 5-HTTLPR polymorphism and severity of AN. Our findings suggested that 5-HTTLPR is able to confer susceptibility to AN in Han Chinese.

  10. Representing Divorce, Reforming Interiority: Narratives of Gender, Class and Family in Post-Reform Chinese Literature and Culture

    Science.gov (United States)

    Xiao, Hui

    2009-01-01

    This project stands at the juncture of modern Chinese literature, post-socialist studies, cultural history of divorce, and critical studies about global middle-class cultures. Employing analytical tools mainly from literary studies, cultural studies and feminist theories, I examine stories, novels, films and TV dramas about divorce produced…

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

    International Nuclear Information System (INIS)

    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

  12. A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II.

    Science.gov (United States)

    Yan, Xukun; Zhang, Tianyu; Wang, Zhengmin; Jiang, Yi; Chen, Yan; Wang, Hongyan; Ma, Duan; Wang, Lei; Li, Huawei

    2011-12-20

    Waardenburg syndrome type II (WS2) is associated with syndromic deafness. A subset of WS2, WS2A, accounting for approximately 15% of patients, is attributed to mutations in the microphthalmia-associated transcription factor (MITF) gene. We examined the genetic basis of WS2 in a large Chinese family. All 9 exons of the MITF gene, the single coding exon (exon 2) of the most common hereditary deafness gene GJB2 and the mitochondrial DNA (mtDNA) 12S rRNA were sequenced. A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA] in exon 8 of the MITF gene co-segregates with WS2 in the family. The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids. The deaf proband had this MITF gene heterozygous mutation as well as a c.[109G>A]+[235delC] compound heterozygous pathogenic mutation in the GJB2 gene. No pathogenic mutation was found in mtDNA 12S rRNA in this family. Thus, a novel compound heterozygous mutation, c.[742_743delAAinsT;746_747delCA] in MITF exon 8 was the key genetic reason for WS2 in this family, and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband. Copyright © 2011. Published by Elsevier Ltd.

  13. Study of American and Chinese family members' evaluations on institutionalized care for their older parents: potential development in the future.

    Science.gov (United States)

    Li, Yushi; Buechel, Annie

    2007-01-01

    The evaluations on institutionalized care facilities from family members, after their loved ones moved into such services, are very different from culture to culture, family to family and person to person. According to a recent survey in the United States and China, it is found that different cultures and the different health conditions of the residents strongly influence family member's viewpoints on institutionalized care services. It is also found that the availability of the institutionalized care facilities plays a significant role, which strongly affects family members' evaluations on nursing home services.

  14. Maternal mental quality of life mediates the associations between intimate partner abuse against mothers and their children's behaviours and quality of life in low-income Chinese families.

    Science.gov (United States)

    Guo, Vivian Yawei; Yu, Esther Yee Tak; Wong, Rosa Sze Man; Ip, Patrick; Tiwari, Agnes Fung Yee; Wong, Carlos King Ho; Fung, Colman Siu Cheung; Wong, Wilfred Hing Sang; Lam, Cindy Lo Kuen

    2017-12-01

    To explore the association between maternal intimate partner abuse (IPA) and their children's health-related quality of life (HRQOL) and behavioural problem, and to establish a mediation model and investigate the mediating role of mothers' HRQOL on this association. A cross-sectional study was conducted on 197 mothers of 227 children (112 boys and 115 girls) from low-income Chinese families. The mothers were asked to complete the 5-item abuse assessment screen questionnaire for the presence of IPA, the Chinese (Hong Kong) version of 12-item Short-Form Health Survey (SF-12) for their HRQOL and a structured socio-demographics questionnaire. One of the parents completed the Child Health Questionnaire-Parent Form-50 (CHQ-PF50) and the strengths and difficulties questionnaire (SDQ) to report on their children's HRQOL and behavioural problems, respectively. The mediating effect of the maternal HRQOL on the relationship between maternal IPA status and their children's behavioural problems and HRQOL was tested using Baron and Kenney's multistage regression approach and bootstrapping method. Thirty-five of the 197 mothers reported IPA (17.8%). Children whose mothers had experienced IPA had lower scores in the CHQ-PF50 mental health, parental impact-emotional, family activities and family cohesion subscales, and the psychosocial summary score compared to children of mothers who reported no IPA; they also had more emotional, conduct and hyperactivity/inattention problems and higher total difficulties scores measured by the SDQ. Maternal mental HRQOL was a mediator on the relationship between maternal IPA status and their children's behavioural problems and psychosocial HRQOL. IPA experienced by mothers had significant negative impacts on their children's HRQOL and behaviours, which was mediated by maternal mental HRQOL.

  15. The Intergenerational Transmission of the Value of Children in Contemporary Chinese Families: Taiwan and Mainland China Compared

    OpenAIRE

    Chin-Chun Yi; Yu-Hua Chen

    2014-01-01

    Dieser Beitrag liegt nur in englischer Sprache vor.While fertility has been drastically declining in East Asia, mechanisms accounting for the current trend vary. One noticeable mechanism documented is that the changing value of children affects couples’ fertility decisions which in turn affect their subsequent fertility behaviour. This study will examine the intergenerational transmission of the value of children (VOC) among grandmothers, mothers and teenagers in two Chinese societies: Taiwan...

  16. The intergenerational transmission of the value of children in contemporary Chinese families : Taiwan and mainland China compared

    OpenAIRE

    Yi, Chin-Chun; Chen, Yu-Hua

    2014-01-01

    "While fertility has been drastically declining in East Asia, mechanisms accounting for the current trend vary. One noticeable mechanism documented is that the changing value of children affects couples' fertility decisions which in turn affect their subsequent fertility behaviour. This study will examine the intergenerational transmission of the value of children (VOC) among grandmothers, mothers and teenagers in two Chinese societies: Taiwan and Mainland China. We assume that cultural homog...

  17. Familial young-onset diabetes, pre-diabetes and cardiovascular disease are associated with genetic variants of DACH1 in Chinese.

    Science.gov (United States)

    Ma, Ronald Ching Wan; Lee, Heung Man; Lam, Vincent Kwok Lim; Tam, Claudia Ha Ting; Ho, Janice Siu Ka; Zhao, Hai-Lu; Guan, Jing; Kong, Alice Pik Shan; Lau, Eric; Zhang, Guozhi; Luk, Andrea; Wang, Ying; Tsui, Stephen Kwok Wing; Chan, Ting Fung; Hu, Cheng; Jia, Wei Ping; Park, Kyong Soo; Lee, Hong Kyu; Furuta, Hiroto; Nanjo, Kishio; Tai, E Shyong; Ng, Daniel Peng-Keat; Tang, Nelson Leung Sang; Woo, Jean; Leung, Ping Chung; Xue, Hong; Wong, Jeffrey; Leung, Po Sing; Lau, Terrence C K; Tong, Peter Chun Yip; Xu, Gang; Ng, Maggie Chor Yin; So, Wing Yee; Chan, Juliana Chung Ngor

    2014-01-01

    In Asia, young-onset type 2 diabetes (YOD) is characterized by obesity and increased risk for cardiovascular disease (CVD). In a genome-wide association study (GWAS) of 99 Chinese obese subjects with familial YOD diagnosed before 40-year-old and 101 controls, the T allele of rs1408888 in intron 1 of DACH1(Dachshund homolog 1) was associated with an odds ratio (OR) of 2.49(95% confidence intervals:1.57-3.96, P = 8.4 × 10(-5)). Amongst these subjects, we found reduced expression of DACH1 in peripheral blood mononuclear cells (PBMC) from 63 cases compared to 65 controls (P = 0.02). In a random cohort of 1468 cases and 1485 controls, amongst top 19 SNPs from GWAS, rs1408888 was associated with type 2 diabetes with a global P value of 0.0176 and confirmation in a multiethnic Asian case-control cohort (7370/7802) with an OR of 1.07(1.02-1.12, P(meta)  = 0.012). In 599 Chinese non-diabetic subjects, rs1408888 was linearly associated with systolic blood pressure and insulin resistance. In a case-control cohort (n = 953/953), rs1408888 was associated with an OR of 1.54(1.07-2.22, P = 0.019) for CVD in type 2 diabetes. In an autopsy series of 173 non-diabetic cases, TT genotype of rs1408888 was associated with an OR of 3.31(1.19-9.19, P = 0.0214) and 3.27(1.25-11.07, P = 0.0184) for coronary heart disease (CHD) and coronary arteriosclerosis. Bioinformatics analysis revealed that rs1408888 lies within regulatory elements of DACH1 implicated in islet development and insulin secretion. The T allele of rs1408888 of DACH1 was associated with YOD, prediabetes and CVD in Chinese.

  18. Familial young-onset diabetes, pre-diabetes and cardiovascular disease are associated with genetic variants of DACH1 in Chinese.

    Directory of Open Access Journals (Sweden)

    Ronald Ching Wan Ma

    Full Text Available In Asia, young-onset type 2 diabetes (YOD is characterized by obesity and increased risk for cardiovascular disease (CVD. In a genome-wide association study (GWAS of 99 Chinese obese subjects with familial YOD diagnosed before 40-year-old and 101 controls, the T allele of rs1408888 in intron 1 of DACH1(Dachshund homolog 1 was associated with an odds ratio (OR of 2.49(95% confidence intervals:1.57-3.96, P = 8.4 × 10(-5. Amongst these subjects, we found reduced expression of DACH1 in peripheral blood mononuclear cells (PBMC from 63 cases compared to 65 controls (P = 0.02. In a random cohort of 1468 cases and 1485 controls, amongst top 19 SNPs from GWAS, rs1408888 was associated with type 2 diabetes with a global P value of 0.0176 and confirmation in a multiethnic Asian case-control cohort (7370/7802 with an OR of 1.07(1.02-1.12, P(meta  = 0.012. In 599 Chinese non-diabetic subjects, rs1408888 was linearly associated with systolic blood pressure and insulin resistance. In a case-control cohort (n = 953/953, rs1408888 was associated with an OR of 1.54(1.07-2.22, P = 0.019 for CVD in type 2 diabetes. In an autopsy series of 173 non-diabetic cases, TT genotype of rs1408888 was associated with an OR of 3.31(1.19-9.19, P = 0.0214 and 3.27(1.25-11.07, P = 0.0184 for coronary heart disease (CHD and coronary arteriosclerosis. Bioinformatics analysis revealed that rs1408888 lies within regulatory elements of DACH1 implicated in islet development and insulin secretion. The T allele of rs1408888 of DACH1 was associated with YOD, prediabetes and CVD in Chinese.

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

    Science.gov (United States)

    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.

  20. 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.

  1. 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.

  2. [Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism].

    Science.gov (United States)

    Zhao, Qi; Guan, Menglong; Wang, Ling; Liao, Yong; Li-Ling, Jesse; Wan, Huajing

    2017-04-10

    To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism. Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing. A previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation. A novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.

  3. 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

  4. 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.

  5. Association of genetic markers in the BCL-2 family of apoptosis-related genes with endometrial cancer risk in a Chinese population.

    Directory of Open Access Journals (Sweden)

    Tsogzolmaa Dorjgochoo

    Full Text Available In vitro studies have demonstrated the role of the BCL-2 family of genes in endometrial carcinogenesis. The role of genetic variants in BCL-2 genes and their interactions with non-genetic factors in the development of endometrial cancer has not been investigated in epidemiological studies.We examined the relationship between BCL-2 gene family variants and endometrial cancer risk among 1,028 patients and 1,922 age-matched community controls from Shanghai, China. We also investigated possible interactions between genetic variants and established risk factors (demographic, lifestyle and clinical. Individuals were genotyped for 86 tagging single nucleotide polymorphisms (SNPs in the BCL2, BAX, BAD and BAK1 genes.Significant associations with endometrial cancer risk were found for 9 SNPs in the BCL2 gene (P trend<0.05 for all. For SNPs rs17759659 and rs7243091 (minor allele for both: G, the associations were independent. The odds ratio was 1.27 (95% CI: 1.04-1.53 for women with AG genotype for the SNP rs17759659 and 1.82 (95% CI: 1.21-2.73 for women with the GG genotype for the SNP rs7243091. No interaction between these two SNPs and established non-genetic risk factors of endometrial cancer was noticed.Genetic polymorphisms in the BCL2 gene may be associated with the risk of endometrial cancer in Chinese women.

  6. Evidence for association between Disrupted-in-schizophrenia 1 (DISC1 gene polymorphisms and autism in Chinese Han population: a family-based association study

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    Ruan Yan

    2011-05-01

    Full Text Available Abstract Background Disrupted-in-Schizophrenia 1 (DISC1 gene is one of the most promising candidate genes for major mental disorders. In a previous study, a Finnish group demonstrated that DISC1 polymorphisms were associated with autism and Asperger syndrome. However, the results were not replicated in Korean population. To determine whether DISC1 is associated with autism in Chinese Han population, we performed a family-based association study between DISC1 polymorphisms and autism. Methods We genotyped seven tag single nucleotide polymorphisms (SNPs in DISC1, spanning 338 kb, in 367 autism trios (singleton and their biological parents including 1,101 individuals. Single SNP association and haplotype association analysis were performed using the family-based association test (FBAT and Haploview software. Results We found three SNPs showed significant associations with autism (rs4366301: G > C, Z = 2.872, p = 0.004; rs11585959: T > C, Z = 2.199, p = 0.028; rs6668845: A > G, Z = 2.326, p = 0.02. After the Bonferroni correction, SNP rs4366301, which located in the first intron of DISC1, remained significant. When haplotype were constructed with two-markers, three haplotypes displayed significant association with autism. These results were still significant after using the permutation method to obtain empirical p values. Conclusions Our study provided evidence that the DISC1 may be the susceptibility gene of autism. It suggested DISC1 might play a role in the pathogenesis of autism.

  7. The One-Child Policy, Elder Care, and LGB Chinese: A Social Policy Explanation for Family Pressure.

    Science.gov (United States)

    Hildebrandt, Timothy

    2018-01-03

    Lesbian, gay, and bisexual (LGB) people in China consistently report family pressure as the greatest challenge they face in their daily lives. This problem has been explained primarily by highlighting sociocultural factors. While such explanations are important to understanding family pressure, they do not easily lead to actionable policy interventions to relieve it. This article suggests a new way of looking at family pressure by positing a social policy explanation. In particular, it reveals how both the one-child policy and elder care reforms have strong heteronormative biases that negatively and disproportionately affect LGB people, and it explores social policy interventions that may help address them. Beyond the China case, the article seeks to open up new avenues for research into how sexuality could be better accounted for in analyses of social policies and considered in broader discussions on defamilization and welfare state reform.

  8. Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa

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    Juan Wu

    2014-01-01

    Full Text Available Next-generation sequencing has become more widely used to reveal genetic defect in monogenic disorders. Retinitis pigmentosa (RP, the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes. Due to the extreme genetic heterogeneity, using general molecular screening alone is inadequate for identifying genetic predispositions in susceptible individuals. In order to identify underlying mutation rapidly, we utilized next-generation sequencing in a four-generation Chinese family with RP. Two affected patients and an unaffected sibling were subjected to whole exome sequencing. Through bioinformatics analysis and direct sequencing confirmation, we identified p.R135W transition in the rhodopsin gene. The mutation was subsequently confirmed to cosegregate with the disease in the family. In this study, our results suggest that whole exome sequencing is a robust method in diagnosing familial hereditary disease.

  9. The Nature of Interactions between Chinese Immigrant Families and Preschool Staff: How Culture, Class, and Methodology Matter

    Science.gov (United States)

    Heng, Tang T.

    2014-01-01

    While the parental involvement field has progressed from asking what the impact of parental involvement is to how we can better involve parents, research has lagged in finding out how sociocultural and class differentials between homes and schools affect immigrant families' interactions with schools. This case study uses ethnographic tools to…

  10. Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.

    Science.gov (United States)

    Huang, Xiaoyan; Tian, Mao; Li, Jiankang; Cui, Ling; Li, Min; Zhang, Jianguo

    2017-11-01

    Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND. To identify the causative gene, next-generation sequencing based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members using Sanger sequencing. We identified a novel missense variant (c.314C>A) located within the NDP gene. The mutation cosegregated within all affected individuals in the family and was not found in unaffected members. By happenstance, in this family, we also detected a known pathogenic variant of retinitis pigmentosa in a healthy individual. c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of ND.

  11. Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

    Directory of Open Access Journals (Sweden)

    Xiaoyan Huang

    2017-01-01

    Full Text Available Purpose: Norrie disease (ND is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND. Methods: To identify the causative gene, next-generation sequencing based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members using Sanger sequencing. Results: We identified a novel missense variant (c.314C>A located within the NDP gene. The mutation cosegregated within all affected individuals in the family and was not found in unaffected members. By happenstance, in this family, we also detected a known pathogenic variant of retinitis pigmentosa in a healthy individual. Conclusion: c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of ND.

  12. A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

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    Jia WX

    2015-04-01

    Full Text Available Wei-Xue Jia,1,2 Xue-Min Xiao,1,2 Jian-Bing Wu,1,2 Yi-Ping Ma,1,2 Yi-Ping Ge,1,2 Qi Li,1,2 Qiu-Xia Mao,1,2 Cheng-Rang Li1,2 1Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China; 2Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China Abstract: Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. It has been found to be associated with mutations in the KIT or SLUG genes. We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-old son with characteristics of white patches and forelock associated with numerous brown macules and patches. Genomic DNA samples of the proband and her son were extracted from their peripheral blood. One hundred unrelated healthy individuals were used as controls. All coding regions of KIT, SLUG, and NF1 genes were amplified by polymerase chain reaction using exon flanking intronic primers and Sanger sequencings were performed. DNA sequencing revealed heterozygous missense c.2431T>G mutation in exon 17 of the KIT gene in the proband and the affected son. No potentially pathogenic variant was identified in SLUG or NF1 genes. The nucleotide substitution was not found in 100 unrelated control individuals. This study reveals a novel KIT mutation in piebaldism, and it further supports that café-au-lait macules and intertriginous freckling of piebaldism are parts of pigmented anomaly in piebaldism, which does not necessarily represent coexistence of neurofibromatosis type 1 (NF1. Keywords: novel mutation, KIT gene, neurofibromatosis type 1 

  13. A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.

    Science.gov (United States)

    Li, Xuefu; Jiang, Miao; Han, Weitian; Zhao, Ning; Liu, Wei; Sui, Yu; Lu, Yongping; Li, Jianxin

    2013-09-25

    Distal arthrogryposes (DAs), a clinically and genetically heterogeneous group of disorders characterized by congenital contractures with predominant involvement of the hands and feet, can be classified into at least 12 different forms. These autosomal dominant disorders are of variable expressivity and reduced penetrance. Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). However, mutations causing FSS have only been reported in MYH3. Herein we describe a Chinese DA family whose members meet classical strict criteria for FSS, as well as one member of the family who has isolated facial features consistent with FSS. No disease-causing mutation was found in MYH3. Segregation of microsatellite markers flanking the TNNI2 and TNNT3 genes at 11p15.5 was compatible with linkage. Subsequent sequencing of TNNI2 revealed a novel mutation, c.A493T (p.I165F), located in the C-terminal region, which is critical for proper protein function. This mutation was found to cosegregate with the FSS phenotype in this family, and assessment using SIFT and PolyPhen-2 predicted a damaging effect. To the best of our knowledge, we report the first TNNI2 mutation in classical FSS and describe an atypical adult FSS case with only facial contractures resulting from somatic mosaicism. We infer that DA1, DA2B and FSS represent a phenotypic continuum of the same disorder and provide further genetic evidence for this hypothesis. © 2013.

  14. A novel loss-of-function heterozygous BRCA2 c.8946_8947delAG mutation found in a Chinese woman with family history of breast cancer.

    Science.gov (United States)

    Ma, Jing; Yang, Jichun; Jian, Wenjing; Wang, Xianming; Xiao, Deyong; Xia, Wenjun; Xiong, Likuan; Ma, Duan

    2017-04-01

    Breast cancer is the most frequent female malignancy worldwide. Among them, some cases have hereditary susceptibility in two leading genes, BRCA1 and BRCA2. Heterozygous germ line mutations in them are related with increased risk of breast, ovarian and other cancer, following autosomal dominant inheritance mode. For purpose of early finding, early diagnosis and early treatment, mutation detecting of BRCA1/2 genes was performed in unselected 300 breast or ovarian patients and unaffected women using next-generation sequencing and then confirmed by Sanger sequencing. A non-previously reported heterozygous mutation c.8946_8947delAG (p.D2983FfsX34) of BRCA2 gene was identified in an unaffected Chinese woman with family history of breast cancer (her breast cancer mother, also carrying this mutation). The BRCA2-truncated protein resulted from the frame shift mutation was found to lose two putative nuclear localization signals and a Rad51-binding motif in the extreme C-terminal region by bioinformatic prediction. And then in vitro experiments showed that nearly all the mutant protein was unable to translocate to the nucleus to perform DNA repair activity. This novel mutant BRCA2 protein is dysfunction. We classify the mutation into disease causing and conclude that it is the risk factor for breast cancer in this family. So, conducting the same mutation test and providing genetic counseling for this family is practically meaningful and significant. Meanwhile, the identification of this new mutation enriches the Breast Cancer Information Core database, especially in China.

  15. Evaluation of Essential Oil and its Three Main Active Ingredients of Chinese Chenopodium Ambrosioides (Family: Chenopodiaceae Against Blattella Germanica

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    Wei Xiang Zhu

    2012-12-01

    Full Text Available Background: The efficacy of essential oil of Chenopodium ambrosioides flowering aerial parts and its three mainactive ingredients was evaluated against Blattella germanica male adults.Methods: Composition of essential oil was determined by GC-MS. Topical application bioassay was used to evaluatecontact toxicity of essential oil and three main components. Fumigant toxicity of essential oil and its main components was measured using a sealed space method.Results: Twenty-two components were identified in the essential oil and the main components were (Z-ascaridole(29.7%, isoascaridole (13.0%, ρ-cymene (12.7% and piperitone (5.0%. The essential oil and (Z-ascaridole,isoascaridole and -cymene possessed fumigant toxicity against male German cockroaches with LC50 values of 4.13,0.55, 2.07 and 6.92 mg/L air, respectively. Topical application bioassay showed that all the three compounds weretoxic to male German cockroaches and (Z-ascaridole was the strongest with a LD50 value of 22.02 g/adult while the crude oil with a LD50 value of 67.46 g/adult.Conclusion: The essential oil from Chinese C. ambrosioides and its three main active ingredients may be explored as natural potential insecticides in the control of cockroaches.

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

    Science.gov (United States)

    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.

  17. Molecular Characterization, Evolution, and Expression Profiling of the Dirigent (DIR Family Genes in Chinese White Pear (Pyrus bretschneideri

    Directory of Open Access Journals (Sweden)

    Xi Cheng

    2018-04-01

    Full Text Available Stone cells content and size are the key factors determining the internal quality of the pear fruit. Synthesis of lignin and thickening of secondary cell wall are the keys to the development of stone cells. The polymerization of monolignols and secondary cell wall formation requires the participation of dirigent proteins (DIRs. In recent years, DIR family have been studied in higher plants, but lack of comprehensive study in the pear DIR (PbDIR family. This study focuses on the identification and analysis of PbDIR family for the first time. We identified 35 PbDIRs from the pear genome, 89% of which are intronless genes. Phylogenetic tree and chromosome localization analysis showed that 35 PbDIRs were divided into four subfamilies (DIR-a, -b/d, -e, and -g and irregularly distributed among 10 chromosomes. In addition, we identified 29, 26, and 14 DIRs from the other three Rosids (peach, Mei, and grape, respectively. Interspecies microsynteny analysis revealed the collinear gene pairs between pear and peach are the most. Temporal expression analysis showed that the expression changes of seven PbDIRs (DIR-a subfamily: PbDIR4 and PbDIR5; DIR-b/d subfamily: PbDIR11; DIR-g subfamily: PbDIR19; DIR-e subfamily: PbDIR23, 25 and 26 in fruits were consistent with the changes of fruit lignin and stone cells contents. In addition, the subfamily of PbDIRs in fruits showed significant responses after treatment with ABA, SA, and MeJA. According to the protein tertiary structure, key amino acid residues and expression patterns analysis found that PbDIR4 might be involved in the metabolism of lignin and related to stone cells contents in pear fruits. In this study, we systematically analyzed the structure, evolution, function and expression of PbDIR family, which not only confirmed the characteristics of PbDIR family, but also laid the foundation for revealing the role of DIR in pear stone cell development and lignin polymerization.

  18. A novel heterozygous germline deletion in MSH2 gene in a five generation Chinese family with Lynch syndrome

    OpenAIRE

    Wu, Bin; Ji, Wuyang; Liang, Shengran; Ling, Chao; You, Yan; Xu, Lai; Zhong, Min-Er; Xiao, Yi; Qiu, Hui-Zhong; Lu, Jun-Yang; Banerjee, Santasree

    2017-01-01

    Lynch syndrome (LS) is one of the most common familial forms of colorectal cancer predisposing syndrome with an autosomal dominant mode of inheritance. LS is caused by the germline mutations in DNA mismatch repair (MMR) genes including MSH2, MLH1, MSH6 and PMS2. Clinically, LS is characterized by high incidence of early-onset colorectal cancer as well as endometrial, small intestinal and urinary tract cancers, usually occur in the third to fourth decade of the life. Here we describe a five ge...

  19. Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

    OpenAIRE

    Huang, Xiaoyan; Tian, Mao; Li, Jiankang; Cui, Ling; Li, Min; Zhang, Jianguo

    2017-01-01

    Purpose: Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND. Methods: To identify the causative gene, next-generation sequencing bas...

  20. Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family

    Science.gov (United States)

    Wang, Xiran; Pei, Yu; Dou, Jingtao; Lu, Juming; Li, Jian; Lv, Zhaohui

    2015-01-01

    Osteogenesis imperfecta (OI) is a family of genetic disorders associated with bone loss and fragility. Mutations associated with OI have been found in genes encoding the type I collagen chains. People with OI type I often produce insufficient α1-chain type I collagen because of frameshift, nonsense, or splice site mutations in COL1A1 or COL1A2. This report is of a Chinese daughter and mother who had both experienced two bone fractures. Because skeletal fragility is predominantly inherited, we focused on identifying mutations in COL1A1 and COL1A2 genes. A novel mutation in COL1A1, c.700delG, was detected by genomic DNA sequencing in the mother and daughter, but not in their relatives. The identification of this mutation led to the conclusion that they were affected by mild OI type I. Open reading frame analysis indicated that this frameshift mutation would truncate α1-chain type I collagen at residue p263 (p.E234KfsX264), while the wild-type protein would contain 1,464 residues. The clinical data were consistent with the patients’ diagnosis of mild OI type I caused by haploinsufficiency of α1-chain type I collagen. Combined with previous reports, identification of the novel mutation COL1A1-c.700delG in these patients suggests that additional genetic and environmental factors may influence the severity of OI. PMID:25983617

  1. 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...

  2. Social class, social mobility and alcohol-related disorders in Swedish men and women: A study of four generations.

    Science.gov (United States)

    Sidorchuk, Anna; Goodman, Anna; Koupil, Ilona

    2018-01-01

    To investigate whether and how social class and social mobility in grandparents and parents predict alcohol-related disorders (ARDs) in males and females aged 12+ years, and whether intergenerational social prediction of ARDs varies across time periods. The study sample included four successive generations (G) of Swedish families from the Uppsala Birth Cohort Multigenerational Study: G0 born 1851-1912; G1 born 1915-1929; G2 born 1940-1964 and G3 born 1965-1989. Two study populations were created, each consisting of grandparents, parents and offspring: population I 'G0-G1-G2' (offspring n = 18 430) and population II 'G1-G2-G3' (offspring n = 26 469). Registers and archives provided data on ancestors' socio-demographic factors and ARD history, together with offspring ARD development between 1964-2008. Cox regression models examined the hazard of offspring ARD development according to grandparental social class and grandparental-to-parental social trajectories, controlling for offspring birth year, grandmother's and mother's marital status and parental ARDs. Disadvantaged grandparental social class predicted increased ARD risk in offspring in population I, although the effect attenuated and became non-significant in males after adjusting for parental characteristics (adjusted hazard ratio (HR) = 1.80 (95%CI; 1.07, 3.03) in females, HR = 1.32 (95%CI; 0.93, 1.89) in males). In population II, no increase in ARD risk by grandparental social was evident. In both populations, males were at the highest ARD risk if both parents and grandparents belonged to disadvantaged social class (population I: HR = 1.82 (95%CI; 1.22-2.72); population II: HR = 1.68 (95%CI; 1.02-2.76)). Intergenerational social patterning of ARDs appears to be time-contextual and gender-specific. The role of grandparental social class in developing ARDs in grandchildren seems to decline over time, while persistent grandparental-to-parental social disadvantage remains associated with higher ARD risk in males

  3. 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。

  4. Distribution of Chinese names

    Science.gov (United States)

    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.

  5. Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.

    Science.gov (United States)

    Huang, Xiangjun; Yuan, Lamei; Xu, Hongbo; Zheng, Wen; Cao, Yanna; Yi, Junhui; Guo, Yi; Yang, Zhijian; Li, Yu; Deng, Hao

    2018-02-05

    Retinitis pigmentosa (RP) is a group of hereditary, degenerative retinal disorders characterized by progressive retinal dysfunction, outer retina cell loss, and retinal tissue atrophy. It eventually leads to tunnel vision and legal, or total blindness. Here we aimed to reveal the causal gene and mutation contributing to the development of autosomal recessive RP (arRP) in a consanguineous family. A novel homozygous mutation, c.4845delT (p.K1616Rfs*46), in the ATP-binding cassette subfamily A member 4gene ( ABCA4 ) was identified. It may reduce ABCA4 protein activity, leading to progressive degeneration of both rod and cone photoreceptors. The study extends the arRP genotypic spectrum and confirms a genotype-phenotype relationship. This study may also disclose some new clues for RP genetic causes and pathogenesis, as well as clinical and genetic diagnosis. The research findings may contribute to improvement in clinical care, therapy, genetic screening, and counseling. ©2018 The Author(s).

  6. Sibling-based association study of the PPARgamma2 Pro12Ala polymorphism and metabolic variables in Chinese and Japanese hypertension families: a SAPPHIRe study. Stanford Asian-Pacific Program in Hypertension and Insulin Resistance.

    Science.gov (United States)

    Chuang, L M; Hsiung, C A; Chen, Y D; Ho, L T; Sheu, W H; Pei, D; Nakatsuka, C H; Cox, D; Pratt, R E; Lei, H H; Tai, T Y

    2001-11-01

    The peroxisome proliferator activated receptor (PPAR) gamma2 is a transcription factor that has been shown to be involved in adipocyte differentiation, adipogenesis, and insulin sensitivity. To address the role of PPARgamma2 in glucose homeostasis and insulin sensitivity, among many other objectives, we conducted a sibling-controlled association study in a multicenter program - the Stanford Asian-Pacific Program in Hypertension and Insulin Resistance (SAPPHIRe). Approximately 2525 subjects in 734 Chinese and Japanese families have been recruited from six field centers for SAPPHIRe. In total, 1702 subjects including parents and siblings from 449 families have been genotyped for PPARgamma2, of which 328 families were Chinese and 121 Japanese. Only 88 subjects of the 1525 siblings screened for the P12A polymorphism were found to be carriers of the A variant, the most common variant of the PPARgamma2 gene. A variant frequencies of the siblings were 4.27% in Chinese and 2.72% in Japanese. A sibling-controlled association study was performed through genetically discordant sibships (i.e., P/P genotype vs. P/A + A/A genotypes). Specifically, we examined whether there were differences in metabolic variables between the discordant siblings within families. In total, 88 subjects carrying either 1 or 2 A alleles had at least one sibling who was discordant for the P12A polymorphism, yielding a total of 180 individuals from 47 families for analyses, among which 92 siblings were homozygous for wild-type P allele. Siblings with the A variant tended to have lower levels of fasting plasma glucose (OG-10), and lower glucose levels at 60 min following oral glucose loading after adjusting for age, gender, and body mass index. Using a mixed model treating family as a random effect, we found that P12A polymorphism of the PPARgamma2 gene contributes significantly to the variance in fasting plasma glucose, glucose level at 60 min, and insulin-resistance homeostasis model assessment. Our

  7. Authentication of Polygonati Odorati Rhizoma and other two Chinese Materia Medica of the Liliaceae family by pharmacognosy technique with GC-MS analysis.

    Science.gov (United States)

    Liu, Yingjiao; Liu, Canhuang; Yu, Yafei; Xu, Bei; Gong, Limin; Zeng, Xiaoyan; Xiao, Lan; Cheng, Qilai; Liu, Tasi

    2015-02-01

    Yuzhu (Polygonati Odorati Rhizoma), Kangdingyuzhu (Polygonati Prattii Rhizoma), and zhugenqiyuzhu (Disporopsis Fuscopictae Rhizoma) are of the same family, but of different genera. They have all often used in Chinese Materia Medica (CMM) as Polygonati Odorati Rhizoma in China market. Three species of CMM are confused. For better application, we need to identify these plants accurately. This study use pharmacognosy technique and GC-MS analysis, three species of CMM were authenticated. In macroscopic characteristics, the fruit of Polygonati Odorati Rhizoma is blue-black, while the other two are maroon and dark purple orderly. Nodes of Polygonati Odorati Rhizoma are upward and light uplift, about 1 cm spacing, while the other are not. As for microscopic characteristics, the cortex of Polygonati Odorati Rhizoma only occupies about 1/5 of the radius of the transverse section with inconspicuous endodermis, which is much smaller than others. The type of vascular bundles of Polygonati Odorati Rhizoma is closed collateral, but the other is amphivasal. Raphides of calcium oxalate are scattered, but Raphides of the other two are like brooms and neat rows. GC-MS analysis of essential oil could provide different characteristics to distinguish three species. Twenty-three compounds were identified from essential oil of Polygonati Odorati Rhizoma and the main components were n-hexadecanoic acid (49.45%), while n-hexadecanoic acid of the other two are 23.92% and 9.45%. The content of n-hexadecanoic is strongly different. This research was aimed to establish a method by pharmacognosy and GC-MS analysis to identify three CMM and for providing scientifical data to ensure accuracy of origin of three species. © 2014 Wiley Periodicals, Inc.

  8. [Common household traditional Chinese medicines].

    Science.gov (United States)

    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.

  9. Associations Between Parenting Styles and Perceived Child Effortful Control Within Chinese Families in the United States, the United Kingdom, and Taiwan

    OpenAIRE

    Huang, CY; Cheah, CSL; Lamb, Michael Ernest; Zhou, N

    2017-01-01

    The current study examined the associations between parentally perceived child effortful\\ud control (EC) and the parenting styles of 122 Chinese mothers (36 first-generation Chinese\\ud immigrants in the United Kingdom, 40 first-generation Chinese immigrants in the United States,\\ud and 46 Taiwanese mothers) of 5- to 7-year-old (M age = 5.82 years, SD = .805; 68 boys and 54\\ud girls) children. The findings showed significant cultural group differences in mothers’ reported\\ud authoritarian pare...

  10. Effects of tritiated water ingestion on mice: II. Damage at cellular vis-a-vis subcellular level monitored up to four generations

    International Nuclear Information System (INIS)

    Srivastava, P.N.; Sharan, R.N.; Pozzi, L.

    1983-01-01

    Damage at cellular level is measured using colony forming units in spleen (CFU-S) technique while that at subcellular level by DNA unwinding technique. The damage is monitored up to four generations in Swiss albino mice. The results show drastically reduced colony forming ability in mice bone marrow cells (BMC). On plotting survival fractions (percent of control) for BMC against generations of mice, the plateau is found around 50% survival. The role of DNA in colony forming ability of BMC is tested. The results indicate that, at least, initial impairment of colony ability is not DNA dependent but related to some other factor(s)

  11. Associations Between Parenting Styles and Perceived Child Effortful Control Within Chinese Families in the United States, the United Kingdom, and Taiwan

    Science.gov (United States)

    Huang, Ching-Yu; Cheah, Charissa S. L.; Lamb, Michael E.; Zhou, Nan

    2017-01-01

    The current study examined the associations between parentally perceived child effortful control (EC) and the parenting styles of 122 Chinese mothers (36 first-generation Chinese immigrants in the United Kingdom, 40 first-generation Chinese immigrants in the United States, and 46 Taiwanese mothers) of 5- to 7-year-old (M age = 5.82 years, SD = .805; 68 boys and 54 girls) children. The findings showed significant cultural group differences in mothers’ reported authoritarian parenting style. Significant associations also emerged between mothers’ reports of their children’s EC and some parenting dimensions, although there were no cultural group differences in perceived child EC. Different patterns of associations between perceived child EC and parenting styles in these three groups also demonstrated heterogeneity within the Chinese population, and highlighted the need to consider differences between original and receiving societies when seeking to understand parenting and child development in different immigrant groups. PMID:29276309

  12. Associations Between Parenting Styles and Perceived Child Effortful Control Within Chinese Families in the United States, the United Kingdom, and Taiwan.

    Science.gov (United States)

    Huang, Ching-Yu; Cheah, Charissa S L; Lamb, Michael E; Zhou, Nan

    2017-07-01

    The current study examined the associations between parentally perceived child effortful control (EC) and the parenting styles of 122 Chinese mothers (36 first-generation Chinese immigrants in the United Kingdom, 40 first-generation Chinese immigrants in the United States, and 46 Taiwanese mothers) of 5- to 7-year-old ( M age = 5.82 years, SD = .805; 68 boys and 54 girls) children. The findings showed significant cultural group differences in mothers' reported authoritarian parenting style. Significant associations also emerged between mothers' reports of their children's EC and some parenting dimensions, although there were no cultural group differences in perceived child EC. Different patterns of associations between perceived child EC and parenting styles in these three groups also demonstrated heterogeneity within the Chinese population, and highlighted the need to consider differences between original and receiving societies when seeking to understand parenting and child development in different immigrant groups.

  13. Four generations and Higgs physics

    Energy Technology Data Exchange (ETDEWEB)

    Kribs, Graham D. [Department of Physics and Institute of Theoretical Science, University of Oregon, Eugene (United States); Plehn, Tilman [SUPA, School of Physics, University of Edinburgh (United Kingdom); Spannowsky, Michael [Institut fuer Theoretische Physik, Universitaet Karlsruhe (Germany); Tait, Tim M.P. [HEP Division, Argonne National Laboratory (United States)

    2008-07-01

    A fourth generation has been considered and forgotten or discarded several times, wrongly leaving the impression that it is either ruled out or disfavored by experimental data. We revisit a fourth generation of chiral matter in the light of present electroweak precision data and deduce effects on Higgs phenomenology. We find a chiral fourth generation to be a viable model which can yield interesting signatures at the LHC, e.g. production rates are enhanced, weak-boson-fusion channels are suppressed, angular distributions are modified and Higgs pairs can be observed.

  14. The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss

    International Nuclear Information System (INIS)

    Wei Qiping; Zhou Xiangtian; Yang Li; Sun Yanhong; Zhou Jian; Li Guang; Jiang, Robert; Lu Fan; Qu Jia; Guan Minxin

    2007-01-01

    We report here the clinical, genetic and molecular characterization of one three-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON) and hearing loss. Four of 14 matrilineal relatives exhibited the moderate central vision loss at the average age of 12.5 years. Of these, one subject exhibited both LHON and mild hearing impairment. Sequence analysis of the complete mitochondrial genomes in the pedigree showed the presence of homoplasmic LHON-associated ND6 T14484C mutation, deafness-associated 12S rRNA A1555 mutation and 47 other variants belonging to Eastern Asian haplogroup H2. None of other mitochondrial variants was evolutionarily conserved and functional significance. Therefore, the coexistence of the A1555G mutation and T14484C mutations in this Chinese family indicate that the A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutation. However, the incomplete penetrance of vision and hearing loss suggests the involvement of nuclear modifier genes and environmental factors in the phenotypic expression of these mtDNA mutations

  15. A Person-Centered Approach to Studying the Linkages among Parent-Child Differences in Cultural Orientation, Supportive Parenting, and Adolescent Depressive Symptoms in Chinese American Families

    Science.gov (United States)

    Weaver, Scott R.; Kim, Su Yeong

    2008-01-01

    This longitudinal study examined whether supportive parenting mediates relations between parent-child differences in cultural orientation (generational dissonance) and depressive symptoms with a sample of 451 first and second generation Chinese American parents and adolescents (12-15 years old at time 1). Using a person-centered approach,…

  16. On classification of finite groups with four generators, three of which having orders p,p,q (p

    International Nuclear Information System (INIS)

    Yacoub, K.R.

    1984-03-01

    Finite groups with two independent generators attracted the attention of authors for several years. The author, having started on such groups in his PhD Thesis in 1953, discussed later on the existence and the structure of finite groups with three generators, one being of arbitrary order and the other two having given orders [Pub. Math. Debrecen, 11, 32-38(1964), 13, 9-16(1966)] and others. Recently, the author started the problem of finite groups with four generators a,b,c and d when b,c and d have the same odd prime order p. It is the object of the present paper to deal with a similar problem when the given orders are p, p and q with p q together with the particular case when m is an element of set containing p,q will be kept to a further discussion. The present paper consists actually of two main parts, the first deals with the case p does not divide q-1 while the second deals with the case p divides q-1. (author)

  17. 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…

  18. 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...

  19. Keeping up Appearances before the "Other"? Interculturality and Occidentalism in the Educational TV-Program "Happy Chinese"

    Science.gov (United States)

    Dervin, Fred; Gao, Minghui

    2012-01-01

    "Happy Chinese" or kuaile hanyu is an educational melodrama produced by the Chinese TV channel CCTV in 2009. Aiming to improve foreign learners' Chinese language skills, the plot revolves around Susan, an American, staying with her former Chinese classmate's family. "Happy Chinese" proposes both language and cultural learning.…

  20. Prevalence of overweight in Hong Kong Chinese children: Its associations with family, early-life development and behaviors-related factors

    Directory of Open Access Journals (Sweden)

    Jing Jing Wang

    2017-12-01

    Conclusion: The present study revealed a high prevalence of overweight in Hong Kong pediatric population and demonstrated the family resemblance in weight status. Further interventions and promotions should involve parents and consider the family as a unit to tackle childhood overweight.

  1. The effect of psychological capital between work-family conflict and job burnout in Chinese university teachers: Testing for mediation and moderation.

    Science.gov (United States)

    Pu, Jun; Hou, Hanpo; Ma, Ruiyang; Sang, Jinyan

    2017-12-01

    In this study, we investigated the relationship between work-family conflict and job burnout as well as the potential mediation/moderation effects of psychological capital. Participants were 357 university teachers who completed a questionnaire packet containing a work-family conflict scale, psychological capital questionnaire, and Maslach Burnout Inventory-General survey. According to the results, work-family conflict and psychological capital were both significantly correlated with job burnout. In addition, psychological capital cannot mediate-but can moderate-the relationship between work-family conflict and job burnout. Taken together, our findings shed light on the psychological capital underlying the association of work-family conflict and job burnout.

  2. Parental Emotion Socialization and Child Psychological Adjustment among Chinese Urban Families: Mediation through Child Emotion Regulation and Moderation through Dyadic Collaboration

    Directory of Open Access Journals (Sweden)

    Zhuyun Jin

    2017-12-01

    Full Text Available The theoretical model of emotion regulation and many empirical findings have suggested that children’s emotion regulation may mediate the association between parents’ emotion socialization and children’s psychological adjustment. However, limited research has been conducted on moderators of these relations, despite the argument that the associations between parenting practices and children’s psychological adjustment are probabilistic rather than deterministic. This study examined the mediating role of children’s emotion regulation in linking parents’ emotion socialization and children’s psychological adjustment, and whether dyadic collaboration could moderate the proposed mediation model in a sample of Chinese parents and their children in their middle childhood. Participants were 150 Chinese children (87 boys and 63 girls, Mage = 8.54, SD = 1.67 and their parents (Mage = 39.22, SD = 4.07. Parent–child dyadic collaboration was videotaped and coded from an interaction task. Parents reported on their emotion socialization, children’s emotion regulation and psychopathological symptoms. Results indicated that child emotion regulation mediated the links between parental emotion socialization and child’s psychopathological symptoms. Evidence of moderated mediation was also found: supportive emotion socialization and child emotion regulation were positively correlated only at high and medium levels of dyadic collaboration, with child’s psychopathological symptoms as the dependent variables. Our findings suggested that higher-level parent–child collaboration might further potentiate the protective effect of parental supportive emotion socialization practices against child psychopathological symptoms.

  3. Parental Emotion Socialization and Child Psychological Adjustment among Chinese Urban Families: Mediation through Child Emotion Regulation and Moderation through Dyadic Collaboration

    Science.gov (United States)

    Jin, Zhuyun; Zhang, Xutong; Han, Zhuo Rachel

    2017-01-01

    The theoretical model of emotion regulation and many empirical findings have suggested that children’s emotion regulation may mediate the association between parents’ emotion socialization and children’s psychological adjustment. However, limited research has been conducted on moderators of these relations, despite the argument that the associations between parenting practices and children’s psychological adjustment are probabilistic rather than deterministic. This study examined the mediating role of children’s emotion regulation in linking parents’ emotion socialization and children’s psychological adjustment, and whether dyadic collaboration could moderate the proposed mediation model in a sample of Chinese parents and their children in their middle childhood. Participants were 150 Chinese children (87 boys and 63 girls, Mage = 8.54, SD = 1.67) and their parents (Mage = 39.22, SD = 4.07). Parent–child dyadic collaboration was videotaped and coded from an interaction task. Parents reported on their emotion socialization, children’s emotion regulation and psychopathological symptoms. Results indicated that child emotion regulation mediated the links between parental emotion socialization and child’s psychopathological symptoms. Evidence of moderated mediation was also found: supportive emotion socialization and child emotion regulation were positively correlated only at high and medium levels of dyadic collaboration, with child’s psychopathological symptoms as the dependent variables. Our findings suggested that higher-level parent–child collaboration might further potentiate the protective effect of parental supportive emotion socialization practices against child psychopathological symptoms. PMID:29326629

  4. Kan Na! Authentic Chinese Reading. Lessons for Intermediate to Advanced Self-Study. [CD-ROM].

    Science.gov (United States)

    Fleming, Stephen; Hiple, David; Ning, Cynthia

    This compact disc offers several lessons in Chinese, including a photo feature from a Chinese newspaper, the service directory from a Chinese hotel room, a pamphlet for travelers from Taiwan, a family letter, an introduction to Chinese cuisine, an article about a hijacking, a letter of agreement between institutions, an odyssey of a teenaged boy,…

  5. Chinese Parents and English Education.

    Science.gov (United States)

    Ghuman, P.; Wong, R.

    1989-01-01

    Interviews of 34 Chinese families in Manchester, England, ascertained their views on their children's schooling. These parents have little knowledge of English and the school system. They value education highly, would like more homework and discipline, and would like the schools' help in preserving their language and culture. (SK)

  6. 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.

    Science.gov (United States)

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

    2015-01-01

    To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2). 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 mutations were validated in his pedigree and 100 normal controls using polymerase chain reaction (PCR) and Sanger sequencing. The patient in the family occurred hearing loss (HL) and retinitis pigmentosa (RP) without vestibular dysfunction, which were consistent with standards of classification for USH2. He carried the compound heterozygous mutations, c.721 C>T and c.1969 C>T, in the MYO7A gene and the unaffected members carried only one of the two mutations. The mutations were not present in the 100 normal controls. We suggested that the compound heterozygous mutations of the MYO7A could lead to USH2, which had revealed distinguished clinical phenotypes associated with MYO7A and expanded the spectrum of clinical phenotypes of the MYO7A mutations.

  7. 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

    Directory of Open Access Journals (Sweden)

    Wei Zhai

    2015-08-01

    Full Text Available 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 mutations were validated in his pedigree and 100 normal controls using polymerase chain reaction (PCR and Sanger sequencing.RESULTS:The patient in the family occurred hearing loss (HL and retinitis pigmentosa (RP without vestibular dysfunction, which were consistent with standards of classification for USH2. He carried the compound heterozygous mutations, c.721 C>T and c.1969 C>T, in the MYO7A gene and the unaffected members carried only one of the two mutations. The mutations were not present in the 100 normal controls.CONCLUSION:We suggested that the compound heterozygous mutations of the MYO7A could lead to USH2, which had revealed distinguished clinical phenotypes associated with MYO7A and expanded the spectrum of clinical phenotypes of the MYO7A mutations.

  8. Families and family therapy in Hong Kong.

    Science.gov (United States)

    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.

  9. Generational Differences in Work-Family Conflict and Synergy

    OpenAIRE

    Beutell, Nicholas

    2013-01-01

    This paper examines differences in work-family conflict and synergy among the four generational groups represented in the contemporary workforce: Generation Y Generation X, Baby Boomers, and Matures using data from the 2008 National Study of the Changing Workforce (n = 3,502). Significant generational differences were found for work-family conflict (work interfering with family and family interfering with work) but not for work-family synergy. Mental health and job pressure were the best pred...

  10. Direct and Interaction Effects of Co-Existing Familial Risk Factors and Protective Factors Associated with Internet Addiction among Chinese Students in Hong Kong

    Science.gov (United States)

    Wu, Anise M. S.; Lau, Joseph T. F.; Cheng, Kit-man; Law, Rita W.; Tse, Vincent W. S.; Lau, Mason M. C.

    2018-01-01

    Internet addiction (IA) is prevalent among adolescents and imposes a serious public health threat. Familial risk and protective factors may co-exist and interact with each other to determine IA. We conducted a cross-sectional survey among 9,618 Secondary 1 to 4 students in Hong Kong, China. About 16% of the surveyed students were classified as…

  11. Factors contributing to the psychological well-being for Hong Kong Chinese children from low-income families: a qualitative study.

    Science.gov (United States)

    Ho, Ka Yan; Li, William H C; Chung, Joyce Oi Kwan; Lam, Katherine Ka Wai; Chan, Sophia S C; Xia, Wei

    2016-01-01

    Despite compelling evidence demonstrating the negative impact of poverty and income disparity on children's psychological well-being, there has been a lack of qualitative information which addresses its contributing factors. This study aimed to shed light on this area by comparing the experiences toward daily life between children living in low- and high-income families. A qualitative study using a phenomenological approach was conducted from May 2012 to January 2013. A random sample of 42 children aged 10-13, with 25 from low- and 17 from high-income families were asked to voluntarily response to a demographic sheet and undergo individual semi-structured interviews which lasted about 25-30 min. Content analysis was used to analyze the data. Approval for the study was obtained from the Institutional Review Board of the University of Hong Kong/Hospital Authority Hong Kong West Cluster (reference UW 12-237). The findings of this study revealed that the living environment, physical health, social life and ability to function at school of children from low-income families are severely impaired. It fills a gap in the literature by showing how poverty and income disparity affect the daily lives of children from low-income families on different levels. Also, adopting a sedentary lifestyle and unhealthy eating habits are possible factors mediating the effects of poverty and income disparity on the psychological well-being of children from low-income families. It is vital for healthcare professionals going beyond their normal roles to give advice on healthy lifestyles and behaviors by building multidisciplinary partnerships with schools and the community. Additionally, healthcare professionals should also target on these two possible factors to develop and implement appropriate interventions for promoting the psychological well-being among children living in poverty. Trial registration NCT02877719. 19 August 2016 retrospectively registered.

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

    Directory of Open Access Journals (Sweden)

    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.

  13. Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis.

    Science.gov (United States)

    Lun, Yu; Sun, Xiaofang; Wang, Ping; Chi, Jingwei; Hou, Xu; Wang, Yangang

    2017-07-18

    Lipoprotein lipase (LPL) is widely expressed in skeletal muscles, cardiac muscles as well as adipose tissue and involved in the catabolism of triglyceride. Herein we have systematically characterized two novel loss-of-function mutations in LPL from a Chinese family in which afflicted members were manifested by severe hypertriglyceridemia and recurrent pancreatitis. DNA sequencing revealed that the proband was a heterozygote carrying a novel c.T928C (p.C310R) mutation in exon 6 of the LPL gene. Another member of the family was detected to be a compound heterozygote who along with the c.T928C mutation also carried a novel missense mutation c.A1187T (p.E396V) in exon 8 of the LPL gene. Furthermore, COS-1 cells were transfected with lentiviruses containing the mutant LPL genes. While C310R markedly reduced the overall LPL protein level, COS-1 cells carrying E396V or double mutations contained similar overall LPL protein levels to the wild-type. The specific activity of the LPL mutants remained at comparable magnitude to the wild-type. However, few LPL were detected in the culture medium for the mutants, suggesting that both mutations caused aberrant triglyceride catabolism. More specifically, E396V and double mutations dampened the transport of LPL to the cell surface, while for the C310R mutation, reducing LPL protein level might be involved. By characterizing these two novel LPL mutations, this study has expanded our understanding on the pathogenesis of familial hypertriglyceridemia (FHTG).

  14. rs2043211 polymorphism in CARD8 is not associated with Tourette syndrome in a family-based association study in the Chinese Han population.

    Science.gov (United States)

    Yi, Mingji; Shao, Xiaohui; Ma, Jianhua; Tian, Bo; Zhang, Ying; Liu, Shiguo

    2015-01-01

    Previous studies showed that postinfectious autoimmunity and immune deficiency played an important role in the pathogenesis of Tourette syndrome. CARD8 can suppress activity of NF-ΚB activated by inflammatory mediators. To study the association between the rs2043211 polymorphism in CARD8 and susceptibility to Tourette syndrome in Chinese Han population. We recruited 279 patients diagnosed with Tourette syndrome and their parents for the study. Genotyping for CARD8 rs2043211 single-nucleotide polymorphism was performed using predesigned TaqMan single-nucleotide polymorphism genotyping assay. The genetic contribution of this single-nucleotide polymorphism was evaluated using transmission disequilibrium test and haplotype relative risk and the haplotype-based haplotype relative risk. The results of the allelic and genotypic distribution of rs2043211 polymorphism in CARD8 showed that both the Tourette syndrome patients group and the parents group are in Hardy-Weinberg equilibrium. No significant differences were observed in the mutant allele transmission (transmission disequilibrium test = 1.107, df = 1, p = 0.322). Results of haplotype relative risk analysis showed that no statistical significant difference was found in the genotypic frequency (AA/AT/TT) of Tourette syndrome patients passed from parents (haplotype relative risk = 1.152, χ(2 )= 0.494, p = 0.482, 95% CI = 0.777-1.708). Similarly, the analysis of haplotype-based haplotype relative risk was also not to support a statistically significant association in allelic frequency (A/T) of Tourette syndrome patients passed from parents (haplotype-based haplotype relative risk = 1.130, χ(2 )= 1.037, p = 0.308, 95% CI = 0.893-1.429). Our results suggest CARD8 might not play a role in the pathogenesis of Tourette syndrome in Chinese Han population. However, the results still need to be tested in a larger sample and different populations. © The Author(s) 2015 Reprints and

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

    Science.gov (United States)

    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…

  16. Family Values in American Drama.

    Science.gov (United States)

    Brown, Joanne

    When an educator was invited by a Chinese university to teach a seminar in American drama, she used "family drama" as the organizing theme of her course because she was (and is) convinced that from Eugene O'Neill on, American playwrights have been obsessed with family disintegration and the failure of family harmony. This paper is an…

  17. Systematic analysis and comparison of the PHD-Finger gene family in Chinese pear (Pyrus bretschneideri) and its role in fruit development.

    Science.gov (United States)

    Cao, Yunpeng; Han, Yahui; Meng, Dandan; Abdullah, Muhammad; Li, Dahui; Jin, Qing; Lin, Yi; Cai, Yongping

    2018-04-20

    PHD-finger proteins, which belongs to the type of zinc finger family, and that play an important role in the regulation of both transcription and the chromatin state in eukaryotes. Currently, PHD-finger proteins have been well studied in animals, while few studies have been carried out on their function in plants. In the present study, 129 non-redundant PHD-finger genes were identified from 5 Rosaceae species (pear, apple, strawberry, mei, and peach); among them, 31 genes were identified in pear. Subsequently, we carried out a bioinformatics analysis of the PHD-finger genes. Thirty-one PbPHD genes were divided into 7 subfamilies based on the phylogenetic analysis, which are consistent with the intron-exon and conserved motif analyses. In addition, we identified five segmental duplication events, implying that the segmental duplications might be a crucial role in the expansion of the PHD-finger gene family in pear. The microsynteny analysis of five Rosaceae species showed that there were independent duplication events in addition to the genome-wide duplication of the pear genome. Subsequently, ten expressed PHD-finger genes of pear fruit were identified using qRT-PCR, and one of these genes, PbPHD10, was identified as an important candidate gene for the regulation of lignin synthesis. Our research provides useful information for the further analysis of the function of PHD-finger gene family in pear.

  18. Characterization of the lipoxygenase (LOX) gene family in the Chinese white pear (Pyrus bretschneideri) and comparison with other members of the Rosaceae.

    Science.gov (United States)

    Li, Meng; Li, Leiting; Dunwell, Jim M; Qiao, Xin; Liu, Xing; Zhang, Shaoling

    2014-06-07

    Lipoxygenases (LOXs), a type of non-haem iron-containing dioxygenase, are ubiquitous enzymes in plants and participate in the formation of fruit aroma which is a very important aspect of fruit quality. Amongst the various aroma volatiles, saturated and unsaturated alcohols and aldehydes provide the characteristic aroma of the fruit. These compounds are formed from unsaturated fatty acids through oxidation, pyrolysis and reduction steps. This biosynthetic pathway involves at least four enzymes, including LOX, the enzyme responsible for lipid oxidation. Although some studies have been conducted on the LOX gene family in several species including Arabidopsis, soybean, cucumber and apple, there is no information from pear; and the evolutionary history of this gene family in the Rosaceae is still not resolved. In this study we identified 107 LOX homologous genes from five Rosaceous species (Pyrus bretschneideri, Malus × domestica, Fragaria vesca, Prunus mume and Prunus persica); 23 of these sequences were from pear. By using structure analysis, phylogenic analysis and collinearity analysis, we identified variation in gene structure and revealed the phylogenetic evolutionary relationship of this gene family. Expression of certain pear LOX genes during fruit development was verified by analysis of transcriptome data. 23 LOX genes were identified in pear and these genes were found to have undergone a duplication 30-45 MYA; most of these 23 genes are functional. Specific gene duplication was found on chromosome4 in the pear genome. Useful information was provided for future research on the evolutionary history and transgenic research on LOX genes.

  19. Chinese Geography through Chinese Cuisine

    Science.gov (United States)

    Lipman, Jonathan

    2010-01-01

    China has the world's largest population, now over 1.3 billion, but its land area (much of it high mountains or desert) is about the same as that of the United States, which has less than one-fourth as many people. So Chinese farmers have learned to use every inch of their fertile land intensively. Pressure on the land has required extremely…

  20. Chinese culture and fertility decline.

    Science.gov (United States)

    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

  1. Development and validation of attitudes towards Recovery Questionnaire across Chinese people in recovery, their family carers, and service providers in Hong Kong.

    Science.gov (United States)

    Mak, Winnie W S; Chan, Randolph C H; Yau, Sania S W

    2018-05-29

    Considering the lack of existing measures on attitudes toward personal recovery and the need to acknowledge the cultural milieu in recovery attitude assessment, the present study developed and validated the Attitudes towards Recovery Questionnaire (ARQ) in a sample of people in recovery of mental illness, family carers, and mental health service providers in Hong Kong. The ARQ was developed based on existing literature and measures of recovery, and focus group discussions with various stakeholders. Findings of the multi-sample confirmatory factor analyses supported a five-factor structure: (1) resilience as a person in recovery, (2) self-appreciation and development, (3) self-direction, (4) family involvement, and (5) social ties and integration. The ARQ was positively correlated with recovery outcomes, empowerment, recovery knowledge, and recovery orientation of mental health services. As a tool for examining recovery attitudes, the ARQ informs us of the mindset across stakeholders and areas that need enhancement to facilitate the recovery process. Copyright © 2018. Published by Elsevier B.V.

  2. Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment.

    Science.gov (United States)

    Qu, Ronggui; Sang, Qing; Xu, Yao; Feng, Ruizhi; Jin, Li; He, Lin; Wang, Lei

    2016-05-01

    Hearing loss is a common sensory impairment. Several genetic loci or genes responsible for non-syndrome hearing loss have been identified, including the well-known deafness genes GJB2, MT-RNR1 and SLC26A4. MYO3A belongs to the myosin superfamily. Previously only three mutations in this gene have been found in an Isreali family with DFNB30, in which patients demonstrated progressive hearing loss. In this study, we characterized a consanguineous Kazakh family with congenital hearing loss. By targeted sequence capture and next-generation sequencing, we identified a homozygous mutation and did bioinformatics analysis to this mutation. A homozygous mutation, MYO3A:c.1841C>T (p.S614F), was identified to be responsible for the disease. Ser614 is located in the motor domain of MYO3A that is highly conserved among different species. Molecular modeling predicts that the conserved Ser614 may play an important role in maintaining the stability of β-sheet and the interaction between neighboring β-strand. This is the second report on MYO3A mutations in deafness and the first report in China. The finding help facilitate establishing a better relationship between MYO3A mutation and hearing phenotypes. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  3. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  4. Rezension von: Nancy E. Riley: Gender, Work, and Family in a Chinese Economic Zone. Laboring in Paradise. Wiesbaden: Springer VS 2013.

    Directory of Open Access Journals (Sweden)

    Yvonne Berger

    2015-03-01

    Full Text Available Das Buch eignet sich vor allem für Wissenschaftler/-innen, die sich mit den Lebenswirklichkeiten von Arbeitsmigrantinnen in China aus geschlechtertheoretischer Sicht beschäftigen. Nancy E. Riley interessiert sich ethnographisch für den Zusammenhang von Geschlecht, Arbeit und Familie. Konkret geht die Autorin dabei der Frage nach, inwiefern die in der Dalian Economic Zone (DEZ arbeitenden Frauen Erwerbsarbeit als eine Ressource der sozialen Mobilität und der Verhandlung innerfamilialer Machtpositionen nutzbar machen können. Mit Fokus auf dieser (Sonder-Wirtschaftszone und den familialen Lebenswirklichkeiten der Frauen erschließen sich spannende Einsichten in das wirtschaftlich aufstrebende China und den damit einhergehenden sozialen Wandel von Geschlechterverhältnissen.

  5. Defining Tiger Parenting in Chinese Americans.

    Science.gov (United States)

    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.

  6. Asymmetry Effects of shocks in Chinese Stock Markets Volatility

    DEFF Research Database (Denmark)

    Hou, Ai Jun

    2013-01-01

    The unique characteristics of the Chinese stock markets make it difficult to assume a particular distribution for innovations in returns and the specification form of the volatility process when modelling return volatility with the parametric GARCH family models. This paper therefore applies...... a generalized additive nonparametric smoothing technique to examine the volatility of the Chinese stock markets. The empirical results indicate that an asymmetric effect of negative news exists in the Chinese stock markets. Furthermore, compared with other parametric models, the generalized additive...

  7. Chinese letterkunde. Een inleiding

    NARCIS (Netherlands)

    Idema, Wilt; Haft, Lloyd

    2005-01-01

    De Chinese cultuur mag zich verheugen in een groeiende belangstelling. Chinese films bereiken in Nederland een steeds omvangrijker publiek en ook de moderne Chinese literatuur, die sinds de jaren tachtig een grote bloei doormaakt, wordt door veel liefhebbers op de voet gevolgd. Chinese Letterkunde

  8. Medieval Chinese syntax

    OpenAIRE

    Anderl, Christoph

    2017-01-01

    “Medieval Chinese Syntax” aims to provide a sketch of the development of function words and syntactic structures during the Chinese Medieval period, including Early Medieval Chinese (ca. 0-700 A.D.) and Late Medieval Chinese (ca. 700-1100).

  9. Chinese-American Student Life-Styles: A Comparative Study.

    Science.gov (United States)

    Kuo, Shih-Yu; Spees, Emil R.

    1983-01-01

    Compared characteristics and life styles of American college students (N=190) and Chinese students (N=197) in Taiwan. Survey results showed Chinese students were more likely to rate personal knowledge as a goal and be influenced by family. American students were more oriented toward financial security and influenced by peers. (Author/JAC)

  10. Management of Chinese restaurant

    OpenAIRE

    Cui , Longbo

    2009-01-01

    With Chinese economy developing rapidly, the Chinese restaurant is under the spotlight, but the management of Chinese restaurant is weak at the moment, especially on the service management, which is an important part of service management in the Chinese restaurant. On the other hand, the managers of Chinese restaurant should pay more attention on the service management for instance brand, service innovation. Service management is core and essential concept for every service company recently, ...

  11. Cultural values and immigrant entrepreneurship: the Chinese in Singapore.

    Science.gov (United States)

    Chan, K B; Chiang, S N

    1994-01-01

    "It is the intent of this paper to examine the interrelationships between early socialisation into core Chinese cultural values, international migration and Chinese immigrant entrepreneurship.... It is through a developmental socialisation process by which [cultural] values are articulated in family and kin network dynamics that social organisations begin to develop and define what is popularly understood as the 'Chinese way of doing business'. We argue that among the overseas Chinese, this way of doing business must be viewed historically and developmentally, as it is intimately intertwined with transmigration experiences and their consequences in shaping values necessary for the emergence and development of entrepreneurship." (SUMMARY IN FRE AND SPA) excerpt

  12. Assessment of productivity at four generating plants

    International Nuclear Information System (INIS)

    Saarlas, M.; Nelson, M.

    1976-01-01

    The 1975 FEA study of power plant reliability was undertaken as a first step in improving the productivity of large (larger than 400 MW) generating units by attempting to trace outages to their root causes so that meaningful corrective action can be taken at the root of the problem. Trident Engineering Associates studied the operation, maintenance, management, and manning of two fossil-fueled and two nuclear-fueled units, one each of above average and one below average reliability (high availability and low forced outage rate). It was expected that the differences between a highly reliable unit and a less reliable unit would lead to recommendations which would be useful for improving productivity of units throughout the country. The findings are of two basic types: (1) general concepts covering problem areas, fundamental reasons and immediate symptoms behind the problems, methods used to eliminate or alleviate the problems, and proposed solutions; (2) details which provide statistics that establish the relative lost productivity by fundamental causes. Eight root causes (fundamental reasons for failures or outages) were established into which most failures and outages could be assigned. Twenty nine cause factors (causes of failure) were established which assisted in assigning the failures and outages to a root cause

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

    Science.gov (United States)

    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…

  14. Defining Tiger Parenting in Chinese Americans

    OpenAIRE

    Kim, Su Yeong

    2013-01-01

    “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 be...

  15. Sexual Abuse Trauma Among Chinese Survivors.

    Science.gov (United States)

    Luo, Tsun-yin Echo

    1998-01-01

    This study conducted interviews with 19 survivors of sexual abuse and three social workers in Taiwan. It found sexual stigmatization and feelings of disempowerment and betrayal as the most pervasive trauma complex among the abuse survivors. Effects of cultural attitudes toward sexual victimization of women and Chinese patriarchal familialism are…

  16. 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

  17. MANDARIN CHINESE DICTIONARY.

    Science.gov (United States)

    WANG, FRED FANGYU

    IN RESPONSE TO THE NEEDS OF THE GROWING NUMBER OF AMERICAN HIGH SCHOOL AND COLLEGE STUDENTS LEARNING CHINESE, SETON HALL UNIVERSITY UNDERTOOK A CONTRACT WITH THE U.S. OFFICE OF EDUCATION TO COMPILE A BILINGUAL POCKET-SIZE DICTIONARY FOR BEGINNING STUDENTS OF SPOKEN MANDARIN CHINESE. THE PRESENT WORK IS THE CHINESE TO ENGLISH SECTION IN PRELIMINARY…

  18. TRADITIONAL CHINESE HERBAL MEDICINE

    NARCIS (Netherlands)

    ZHU, YP; WOERDENBAG, HJ

    1995-01-01

    Herbal medicine, acupuncture and moxibustion, and massage and the three major constituent parts of traditional Chinese medicine. Although acupuncture is well known in many Western countries, Chinese herbal medicine, the mos important part of traditional Chinese medicine, is less well known in the

  19. Chinese restaurant syndrome

    OpenAIRE

    Balachandran C; Srinivas C; Shenoy S

    1991-01-01

    A 24-year-old Chinese student with history of recurrent attacks of flushing with burning and dryness of face of 4 years duration showed exacerbation of the symptoms after oral provocation with 1 mg of Chinese salt. Patient was treated with 50 mg pyridoxine daily and restriction of the Chinese salt in diet with moderate improvement.

  20. Chinese restaurant syndrome

    Directory of Open Access Journals (Sweden)

    Balachandran C

    1991-01-01

    Full Text Available A 24-year-old Chinese student with history of recurrent attacks of flushing with burning and dryness of face of 4 years duration showed exacerbation of the symptoms after oral provocation with 1 mg of Chinese salt. Patient was treated with 50 mg pyridoxine daily and restriction of the Chinese salt in diet with moderate improvement.

  1. Formality of the Chinese collective leadership.

    Science.gov (United States)

    Li, Haiying; Graesser, Arthur C

    2016-09-01

    We investigated the linguistic patterns in the discourse of four generations of the collective leadership of the Communist Party of China (CPC) from 1921 to 2012. The texts of Mao Zedong, Deng Xiaoping, Jiang Zemin, and Hu Jintao were analyzed using computational linguistic techniques (a Chinese formality score) to explore the persuasive linguistic features of the leaders in the contexts of power phase, the nation's education level, power duration, and age. The study was guided by the elaboration likelihood model of persuasion, which includes a central route (represented by formal discourse) versus a peripheral route (represented by informal discourse) to persuasion. The results revealed that these leaders adopted the formal, central route more when they were in power than before they came into power. The nation's education level was a significant factor in the leaders' adoption of the persuasion strategy. The leaders' formality also decreased with their increasing age and in-power times. However, the predictability of these factors for formality had subtle differences among the different types of leaders. These results enhance our understanding of the Chinese collective leadership and the role of formality in politically persuasive messages.

  2. Family firm research – A review

    Directory of Open Access Journals (Sweden)

    Qiang Cheng

    2014-09-01

    Part I of the article discusses the fundaments of family firms: the prevalence of and the agency conflicts within family firms. Part II summarizes the findings of recent U.S. family firm studies. It reviews the evidence on the family firm premium (how, which, and when family firms are associated with a valuation premium, the manifestation of the agency conflict between majority and minority shareholders in family firms, earnings quality and corporate disclosure, and the determinants of family ownership and control. Part III discusses the prevalence and characteristics of Chinese family firms and reviews the findings of related studies. The article concludes with some suggestions for future research.

  3. CHANGES IN THE STRUCTURE AND ROLES OF SPANISH-AMERICAN FAMILIES OF NORTHERN NEW MEXICO.

    Science.gov (United States)

    KNOWLTON, CLARK S.

    DATA FOR THIS PAPER WERE OBTAINED FROM EXAMINATION OF AVAILABLE LITERATURE AND FROM FIELD WORK IN SAN MIGUEL AND MORA COUNTIES OF NORTHERN NEW MEXICO. THE EXTENDED PATRIARCHAL FAMILY WAS THE PRIMARY SOCIAL SYSTEM AMONG THE SPANISH AMERICANS, OFTEN CONSISTING OF MEMBERS OF THREE OR FOUR GENERATIONS HEADED BY THE GRANDFATHER. THIS FAMILY COOPERATED…

  4. Comparing Chinese and European American mental health decision making.

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  6. 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...

  7. Cross-cultural comparison of successful aging definitions between Chinese and Hmong elders in the United States

    OpenAIRE

    Nguyen, Annie L.; Seal, David W.

    2014-01-01

    The purpose of the study was to elicit the definitions of successful aging according to Chinese and Hmong elders living in Milwaukee, WI. In-depth semi-structured interviews were conducted with 44 elders (Hmong n=21 and Chinese n=23). Findings show some similarities in the Chinese and Hmong elders’ definitions though specific cultural differences exist. Chinese elders emphasized physical health and mobility, mental health, positive attitudes, shedding responsibilities, positive family relatio...

  8. Melting Pots: Family Stories & Recipes.

    Science.gov (United States)

    Weber, Judith Eichler

    Discussing the different ways people (including Chinese, Greek, African-American, English, and Cuban) celebrate with food, this book presents a brief account of various celebrations followed by a short story involving each celebration. Celebrations discussed in the book are family parties, birthday parties, school parties, surprise parties, and…

  9. Chinese Foods; Teacher's Handbook.

    Science.gov (United States)

    Huang, Joe, Ed.

    Different styles of Chinese cooking, traditional food items, cooking utensils, serving techniques, and the nutritional value of Chinese cooking are described in this teaching guide. Lesson plans for the preparation of simple dishes are presented. Recipes, a shopping guide to San Francisco's Chinatown, a guide to sources of supplies, and a…

  10. Identification of HNF4A Mutation p.T130I and HNF1A Mutations p.I27L and p.S487N in a Han Chinese Family with Early-Onset Maternally Inherited Type 2 Diabetes

    Directory of Open Access Journals (Sweden)

    Ying Yang

    2016-01-01

    Full Text Available Maturity-onset diabetes of the young (MODY is characterized by the onset of diabetes before the age of 25 years, positive family history, high genetic predisposition, monogenic mutations, and an autosomal dominant mode of inheritance. Here, we aimed to investigate the mutations and to characterize the phenotypes of a Han Chinese family with early-onset maternally inherited type 2 diabetes. Detailed clinical assessments and genetic screening for mutations in the HNF4α, GCK, HNF-1α, IPF-1, HNF1β, and NEUROD1 genes were carried out in this family. One HNF4A mutation (p.T130I and two HNF1A polymorphisms (p.I27L and p.S487N were identified. Mutation p.T130I was associated with both early-onset and late-onset diabetes and caused downregulated HNF4A expression, whereas HNF1A polymorphisms p.I27L and p.S487N were associated with the age of diagnosis of diabetes. We demonstrated that mutation p.T130I in HNF4A was pathogenic as were the predicted polymorphisms p.I27L and p.S487N in HNF1A by genetic and functional analysis. Our results show that mutations in HNF4A and HNF1A genes might account for this early-onset inherited type 2 diabetes.

  11. Chinese Companies in Switzerland

    Directory of Open Access Journals (Sweden)

    Esther Kessler

    2014-10-01

    Full Text Available In recent years, some of China’s leading firms have made headlines with their European expansion, by either opening new facilities or by acquiring or merging with significant enterprises in Europe. The goal of this paper is to contribute to the existing literature by examining Chinese enterprises expanding into Switzerland. The study also allows some conclusions for Chinese companies entering Central and Eastern Europe. We analyze via interviews the motivations of Chinese companies to expand into Switzerland as well as their behavior and the impediments in their internationalization process. Our findings show that Chinese companies fail to take advantage of certain benefits of western economies (such as open information and stable rule of law. To move forward efficiently, they should develop competence in dealing systematically with readily available market information, building professional networks that recognize a separation between business life and personal life, and managing their Chinese and foreign employees in the foreign cultural environment.

  12. Translation: an example from ancient Chinese to modern Chinese

    NARCIS (Netherlands)

    Liu, X; Hoede, C.

    2002-01-01

    In this paper, we gave an idea of translation by means of knowledge graph theory from ancient Chinese to modern Chinese, by using an example story. Actually, we give the details of the method of translation from ancient Chinese to modern Chinese step by step as carried out by hand. From the example,

  13. A Cross-Cultural Study of Family and Peer Correlates of Adolescent Misconduct.

    Science.gov (United States)

    Chen, Chuansheng; Greenberger, Ellen; Lester, Julia; Dong, Qi; Guo, Miaw-Sheue

    1998-01-01

    Groups of early adolescents (European Americans, Chinese Americans, Chinese from Taiwan, Chinese from Beijing) completed questionnaires about their involvement in misconduct and about family and peer characteristics. Mothers completed questionnaire about their relationships with their adolescents. Groups reported significantly different mean…

  14. Chinese nuclear insurance and Chinese nuclear insurance pool

    International Nuclear Information System (INIS)

    Gong Zhiqi

    2000-01-01

    Chinese Nuclear Insurance Started with Daya Bay Nuclear Power Station, PICC issued the insurance policy. Nuclear insurance cooperation between Chinese and international pool's organizations was set up in 1989. In 1996, the Chinese Nuclear Insurance Pool was prepared. The Chinese Nuclear Insurance Pool was approved by The Chinese Insurance Regulatory Committee in May of 1999. The principal aim is to centralize maximum the insurance capacity for nuclear insurance from local individual insurers and to strengthen the reinsurance relations with international insurance pools so as to provide the high quality insurance service for Chinese nuclear industry. The Member Company of Chinese Nuclear Pool and its roles are introduced in this article

  15. When Voicelessness Meets Speechlessness – Struggling for Equity in Chinese-Ghanaian Employment Relations

    OpenAIRE

    Karsten Giese; Alena Thiel

    2012-01-01

    In this article Chinese-Ghanaian employment relations are analyzed using the concepts of foreignness, the psychological contract, equity, and cross-cultural communication. Based on a qualitative study conducted in Accra, Ghana, we discuss the labor market in general and introduce the conditions under which Chinese sojourners operate their family trade businesses in the city. After discussing the phenomenon of Ghanaian employment within Chinese trade companies from a theoretical perspective, w...

  16. Cross, culture, confusion: conflict and community in a Chinese church in Canada

    OpenAIRE

    Tan, Weichong Joshua

    2010-01-01

    Through oral history, this project studies a church congregation consisting of families from Hong Kong who came to Canada after the 1970s, professing Chinese ethnicity, while laying claims also to Canadian and Christian identities. As congregants made lives and raised children in both Chinese and Canadian cultures, they changed the way they imagined themselves as a community. Their divergent Chinese, Christian, and Canadian self-identifications affected their varied understandings and experie...

  17. The Danger of Chinese Exceptionalism

    DEFF Research Database (Denmark)

    Li, Xin

    2016-01-01

    In the movement of Chinese indigenous management research, a sort of ‘Chinese exceptionalism’ (as critiqued by Peng, 2005: 133) seems to have been emerging, namely, some Chinese scholars see Chinese culture, philosophy, and way of thinking are unique and cannot be accounted for by some...

  18. Generational Differences in Work-Family Conflict and Synergy

    Directory of Open Access Journals (Sweden)

    Nicholas J. Beutell

    2013-06-01

    Full Text Available This paper examines differences in work-family conflict and synergy among the four generational groups represented in the contemporary workforce: Generation Y Generation X, Baby Boomers, and Matures using data from the 2008 National Study of the Changing Workforce (n = 3,502. Significant generational differences were found for work-family conflict (work interfering with family and family interfering with work but not for work-family synergy. Mental health and job pressure were the best predictors of work interfering with family conflict for each generational group. Work-family synergy presented a more complex picture. Work-family conflict and synergy were significantly related to job, marital, and life satisfaction. Implications and directions for future research are discussed.

  19. Generational differences in work-family conflict and synergy.

    Science.gov (United States)

    Beutell, Nicholas J

    2013-06-19

    This paper examines differences in work-family conflict and synergy among the four generational groups represented in the contemporary workforce: Generation Y Generation X, Baby Boomers, and Matures using data from the 2008 National Study of the Changing Workforce (n = 3,502). Significant generational differences were found for work-family conflict (work interfering with family and family interfering with work) but not for work-family synergy. Mental health and job pressure were the best predictors of work interfering with family conflict for each generational group. Work-family synergy presented a more complex picture. Work-family conflict and synergy were significantly related to job, marital, and life satisfaction. Implications and directions for future research are discussed.

  20. Generational Differences in Work-Family Conflict and Synergy

    Science.gov (United States)

    Beutell, Nicholas J.

    2013-01-01

    This paper examines differences in work-family conflict and synergy among the four generational groups represented in the contemporary workforce: Generation Y Generation X, Baby Boomers, and Matures using data from the 2008 National Study of the Changing Workforce (n = 3,502). Significant generational differences were found for work-family conflict (work interfering with family and family interfering with work) but not for work-family synergy. Mental health and job pressure were the best predictors of work interfering with family conflict for each generational group. Work-family synergy presented a more complex picture. Work-family conflict and synergy were significantly related to job, marital, and life satisfaction. Implications and directions for future research are discussed. PMID:23783221

  1. Mental illness disclosure in Chinese immigrant communities.

    Science.gov (United States)

    Chen, Fang-Pei; Lai, Grace Ying-Chi; Yang, Lawrence

    2013-07-01

    Support from social networks is imperative to mental health recovery of persons with mental illness. However, disclosing mental illness may damage a person's participation in networks due to mental illness stigma, especially in Chinese immigrant communities where social networks (the guanxi network) have specific social-cultural significance. This study focused on mental illness disclosure in Chinese immigrant communities in New York City. Fifty-three Chinese psychiatric patients were recruited consecutively from 2 Chinese bilingual psychiatric inpatient units from 2006 to 2010. Two bilingual psychologists interviewed each participant once in a semistructured interview, including 6 questions on mental illness disclosure. Conventional content analysis was applied to conceptualize the phenomenon. Results showed that participants voluntarily disclosed to a circle of people composed primarily of family and relatives. The decisions and strategies to disclose depended on participants' consideration of 3 critical elements of social relationships. Ganqing, affection associated with relationship building, ultimately determined who had the privilege to know. Renqing, the moral code of reciprocal kindness, further influenced disclosure decisions and what participants anticipated as responses to disclosure. Lastly, concerns over preserving face (lian), a construct representing personal and familial dignity, oftentimes prohibited disclosure. Additionally, in this tight-knit network, involuntary disclosure could happen without participants' permission or knowledge. Participants commonly suffered from stigma after disclosure. However, half of our participants reported situations in which they experienced little discriminatory treatment, and some experienced support and care as a result of cultural dynamics. Recommendations for culturally sensitive practice to facilitate mental illness disclosure among Chinese immigrants were discussed. PsycINFO Database Record (c) 2013 APA, all

  2. Predictors of media multitasking in Chinese adolescents.

    Science.gov (United States)

    Yang, Xiaohui; Zhu, Liqi

    2016-12-01

    We examined predictors of media multitasking in Chinese adolescents from 3 contexts: characteristics of the media user, types of media use and family media contexts. Three hundred and twenty adolescents, 11-18 years of age, completed questionnaires to measure media use, impulsivity, sensation seeking, time management disposition and family media environment. The results showed that media multitasking was positively correlated with age and total media use time. Participants with high levels of impulsivity and sensation seeking reported more multitasking behaviour. Multitasking was negatively correlated with time management. Children from media-oriented families often engage in more multitasking. What's more, social networking sites use and music use can mediate the effect of individual and family factors on media multitasking. © 2015 International Union of Psychological Science.

  3. Application of Toxic Chinese Medicine in Chinese Pharmacopoeia

    Science.gov (United States)

    Zhao, Hui; Feng, Yu; Mao, Mingsan

    2018-01-01

    Objective: Explore the application characteristics of proprietary Chinese medicine prescriptions containing toxic herbs in pharmacopoeia. Methods: In this paper, according to the clinical application of pharmacopoeia proprietary Chinese medicine is divided into table agent, Qushu agent, diarrhea agent, heat agent, Wen Li agent, cough and asthma agents, resuscitation agent, Gutian agent, Fuzheng agent, Anshen agent, hemostatic agent, The traditional Chinese medicine prescription and the clinical application of the Chinese herbal medicine containing the toxic Chinese medicine were analyzed and sorted out., Summed up the compatibility of toxic herbs and application characteristics. Results: Toxic Chinese herbal medicine in the cure of traditional Chinese medicine to play a long-standing role, through the overall thinking, dialectical thinking, and thinking of toxic Chinese medicine in the analysis of Chinese medicine that [2], toxic Chinese medicine in the application of proprietary Chinese medicine can not lack. Conclusion: Pharmacopoeia included proprietary Chinese medicine not only in the clinical treatment of good, but also the application of its toxic traditional Chinese medicine and its understanding of the enrichment of the toxic characteristics of traditional Chinese medicine and treatment-related disease pathology between the points of contact for patients with clinical applications Based on and theoretical guidance of Chinese medicine [3].

  4. Performing "Chinese-ness" in Singkawang

    NARCIS (Netherlands)

    Ong, C.E.; Ormond, M.E.; Sulianti, Dian

    2017-01-01

    Through an examination of two festivals – Qing Ming and Cap Go Meh – in the town of Singkawang in Indonesian Borneo (Kalimantan), we show how Singkawang-bound Chinese Indonesian tourists and their Singkawang-based relatives produce a diasporic heritage network through ‘moorings’ generated by both

  5. Negotiating biomedical and traditional Chinese medicine treatments among elderly Chinese Singaporean women.

    Science.gov (United States)

    Chang, Leanne; Basnyat, Iccha

    2015-02-01

    In this article we examine how elderly Chinese Singaporean women navigated between biomedicine and traditional Chinese medicine in their practices of maintaining well-being. We interviewed 36 elderly women to understand their negotiation of medical choices in the interplay of structure, culture, and personal agency. Our findings show that participants made situational decisions under structural and cultural influences, such as family members' changing expectations and interpretations of medical practices, institutional preferences for biomedicine, and the patients' negotiating position between biomedicine and traditional Chinese medicine. Participants demonstrated their capacity to enact agency through their examination of the effects and side effects of each medical system and through their integrative use of different medical treatments, depending on the purpose. Through our findings, we unveil contextual meanings of health among elderly women and the unique coexistence of traditional and modern medical practices within the context of Singapore. © The Author(s) 2014.

  6. Cultural Predictors of the Parenting Cognitions of Immigrant Chinese Mothers and Fathers in Canada

    Science.gov (United States)

    Costigan, Catherine; Su, Tina F.

    2008-01-01

    This study explored the predictors of parenting cognitions among 94 married immigrant Chinese couples with early-adolescent children in Canada. Mothers and fathers separately completed questionnaires assessing their culturally based parenting cognitions (interdependent childrearing goals, family obligation expectations and Chinese parent role…

  7. The Effect of Four Different Approaches to Parent-Child Reading on Young Chinese Children's Reading

    Science.gov (United States)

    Yang, Feng

    2016-01-01

    Forty families with four- to five-year-old Chinese children were chosen as experiment participants and equally divided into four groups for an eight-week parent-child reading experiment in different reading modes. (1) Groups A, B, and C read one of three kinds of Chinese-English audio bilingual picture books respectively: touch reading books,…

  8. Corporal Punishment and Physical Maltreatment against Children: A Community Study on Chinese Parents in Hong Kong

    Science.gov (United States)

    Tang, Catherine So-kum

    2006-01-01

    Objective: This study aimed to examine rates and associated factors of parent-to-child corporal punishment and physical maltreatment in Hong Kong Chinese families. Method: Cross-sectional and randomized household interviews were conducted with 1,662 Chinese parents to collect information on demographic characteristics of parents and children,…

  9. Family Therapy

    Science.gov (United States)

    Family therapy Overview Family therapy is a type of psychological counseling (psychotherapy) that can help family members improve communication and resolve conflicts. Family therapy is usually provided by a psychologist, ...

  10. Dissolved families

    DEFF Research Database (Denmark)

    Christoffersen, Mogens

    The situation in the family preceding a family separation is studied here, to identify risk factors for family dissolution. Information registers covering prospective statistics about health aspects, demographic variables, family violence, self-destructive behaviour, unemployment, and the spousal...

  11. 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.

  12. Completion of the chloroplast genomes of five Chinese Juglans and their contribution to chloroplast phylogeny

    Science.gov (United States)

    Yiheng Hu; Keith E. Woeste; Peng Zhao

    2017-01-01

    Juglans L. (walnuts and butternuts) is an economically and ecologically important genus in the family Juglandaceae. All Juglans are important nut and timbertrees. Juglans regia (Common walnut), J. sigillata (Iron walnut), J. cathayensis (Chinese walnut), J...

  13. Traditional Chinese Biotechnology

    Science.gov (United States)

    Xu, Yan; Wang, Dong; Fan, Wen Lai; Mu, Xiao Qing; Chen, Jian

    The earliest industrial biotechnology originated in ancient China and developed into a vibrant industry in traditional Chinese liquor, rice wine, soy sauce, and vinegar. It is now a significant component of the Chinese economy valued annually at about 150 billion RMB. Although the production methods had existed and remained basically unchanged for centuries, modern developments in biotechnology and related fields in the last decades have greatly impacted on these industries and led to numerous technological innovations. In this chapter, the main biochemical processes and related technological innovations in traditional Chinese biotechnology are illustrated with recent advances in functional microbiology, microbial ecology, solid-state fermentation, enzymology, chemistry of impact flavor compounds, and improvements made to relevant traditional industrial facilities. Recent biotechnological advances in making Chinese liquor, rice wine, soy sauce, and vinegar are reviewed.

  14. Chinese implicit leadership theory.

    Science.gov (United States)

    Ling, W; Chia, R C; Fang, L

    2000-12-01

    In a 1st attempt to identify an implicit theory of leadership among Chinese people, the authors developed the Chinese Implicit Leadership Scale (CILS) in Study 1. In Study 2, they administered the CILS to 622 Chinese participants from 5 occupation groups, to explore differences in perceptions of leadership. Factor analysis yielded 4 factors of leadership: Personal Morality, Goal Efficiency, Interpersonal Competence, and Versatility. Social groups differing in age, gender, education level, and occupation rated these factors. Results showed no significant gender differences, and the underlying cause for social group differences was education level. All groups gave the highest ratings to Interpersonal Competence, reflecting the enormous importance of this factor, which is consistent with Chinese collectivist values.

  15. Danish-accented Chinese

    DEFF Research Database (Denmark)

    Wang, Lei; Sloos, Marjoleine 莱娜; Zhang, Chun

    In search for a linguistic basis for the education of Chinese as a foreign language CFL in Denmark, we set up a new line of investigation into CFL. This research focuses on the phonetics and phonology of Mandarin Chinese as compared to Danish. Considering the sound systems of both languages, we......-ba /pha pa/ ta-da /tha ta/ ka-ga / kha-ka/ For L2 acquisition it is held that same and new phonemes are (relatively) easy acquired, whereas similar but not identical sounds are difficult to learn. New sounds are initially mapped onto the L1 phoneme inventory (Kuhl 1991). For Danish, this would predict...... instruction, which pitch contours do the Danish learners of Chinese use on neutral tones and to what extent does their production match that of native speakers? Future research may include Norwegian and Swedish-accented Chinese and a comparison between the different Germanic accents of CFL. Reference Kuhl, P...

  16. Conflict and Reconciliation between Two Generations of Chinese Ameri⁃cans over Identity in The Joy Luck Club%Conflict and Reconciliation between Two Generations of Chinese Ameri?cans over Identity in The Joy Luck Club

    Institute of Scientific and Technical Information of China (English)

    张佳胜

    2018-01-01

    Chinese American literature is generated by the history of Chinese American immigrants. In Chinese American litera?ture, issues over identity have been repeatedly mentioned as an eternal theme.Amy Tan, as a representative of a dual cultural iden?tity of the Chinese American writers, published her saga novel The Joy Luck Club as a maiden work in 1989. The novel describes the emotional stories between the four Chinese women with different characters and different fates that abandoned the national calamity and family hatred and moved to the United States and their daughters who were born and grew up in the United States.

  17. The Chinese nuclear program

    International Nuclear Information System (INIS)

    Prenez, J.C.; Bettoun, G.

    2009-01-01

    This series of slides presents the organization of the Chinese nuclear industry and its perspectives for the 2 next decades. The presentation is divided into 5 parts. Part one: the energy sector in China. Due to the economic development of the country this sector is flourishing and reaches an average growth rate of 9% per year. More than fifty per cent of the power plants being built in the world, are located in China. The electricity production stems by far from fossil energies (>80%) but this part is expected to decrease to reach 70% in 2020. Part 2: the Chinese nuclear program. This program is dual: the massive deployment of chinese improved reactors of second generation (the construction of 6 CPR1000 reactors will be launched each year) and the import and assimilation of reactors of the third generation: 4 AP1000 and 2 EPR are being built. Part 3: the organization of the Chinese nuclear sector. The main actors are CNNC (China National Nuclear Corporation), CGNPC (China Guangdong Nuclear Power Corporation), CPI (China Power Investment Corporation), SNPTC (State Nuclear Power Technology Corporation). The main 5 Chinese suppliers are also presented. Part 4: The role of EDF. Today's EDF role is multiple: to be active in the Chinese nuclear program, to go beyond technical assistance to reach partnership, to invest in Chinese power plants, to promote cooperation between French and Chinese actors of the nuclear industry. A lot of joint ventures have been created. Part 5: the Taishan project. Taishan is a coastal site near Macao in the Guangdong province in which 2 EPR are being built, the first concrete was cast in october 2009, 52 months of construction are scheduled and the first unit will be commissioned in end 2013 while the second commissioning is planned for end 2014. (A.C.)

  18. Chinese students' great expectations

    DEFF Research Database (Denmark)

    Thøgersen, Stig

    2013-01-01

    The article focuses on Chinese students' hopes and expectations before leaving to study abroad. The national political environment for their decision to go abroad is shaped by an official narrative of China's transition to a more creative and innovative economy. Students draw on this narrative to...... system, they think of themselves as having a role in the transformation of Chinese attitudes to education and parent-child relations....

  19. Chinese Typography Transfer

    OpenAIRE

    Chang, Jie; Gu, Yujun

    2017-01-01

    In this paper, we propose a new network architecture for Chinese typography transformation based on deep learning. The architecture consists of two sub-networks: (1)a fully convolutional network(FCN) aiming at transferring specified typography style to another in condition of preserving structure information; (2)an adversarial network aiming at generating more realistic strokes in some details. Unlike models proposed before 2012 relying on the complex segmentation of Chinese components or str...

  20. Ethnic Chinese Remigration from Southeast Asian Countries since 1960s: A Case Study of Malaysian Chinese Outflows

    Directory of Open Access Journals (Sweden)

    Kang Xiaoli

    2015-08-01

    Full Text Available Total outflows of Chinese from Southeast Asian countries since the Second World War reached around 3 million. They headed to the developed countries such as the United States, Canada, United Kingdom, Australia, France and Singapore. As for the case of Malaysia, large number of Malaysian Chinese remigrated to Singapore, United Kingdom, United States, Canada and Australia for new residence since the end of the Second World War. They left Malaysia because of political discrimination, economic restrictions, and unequal educational and cultural treatment. According to Malaysia census data and natural population growth rate, this paper made estimation that by 201 0 a total of 1.13 million ethnic Chinese had migrated out of Malaysia. After deducting the number of ethnic Chinese moving to Malaysia, the Malaysian Chinese migrating abroad reached 1.05 million. Malaysian Chinese left Malaysia in the manner of permanent residents and short-term migrants. Permanent residents include those in the skill stream, family stream and those with special eligibility. Short-term migrants refer to visiting scholars, foreign students, guest labor, business expatriates and expatriate professionals. As a matter of fact, there has been a serious brain drain through Chinese remigration from Malaysia.