Brief Intervention with a Chinese Family

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Jill Savege Scharff ◽  
David E. Scharff
Keyword(s):  
Brief Intervention ◽  
Crisis Intervention ◽  
Chinese Family ◽  
Analytic Family ◽  
Class Culture ◽  
Mainland Chinese ◽  
Basic Technique ◽  
Acute Distress ◽  
The Family ◽  
Family Evaluation

This paper is a case report of a brief intervention with a Chinese family, comprising a series of five hour-long interviews on successive days. The family presented in acute distress because of the suicidality of their fourteen-year-old only daughter. The intervention demonstrates basic technique of analytic family evaluation and intervention, the intersection of an adolescent's development and issues of strain in the parents, the potential usefulness of crisis intervention in ongoing treatment, and the effect of the current mainland Chinese middle class culture on development.

A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities

2021 ◽  
pp. 112067212110083
Author(s):  
Shu-Hua Ni ◽  
Juan-Mei Zhang ◽  
Jun Zhao
Keyword(s):  
Missense Mutation ◽  
High Throughput Sequencing ◽  
Bioinformatics Analysis ◽  
Genetic Defect ◽  
Kinase Domain ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Scale Invariant ◽  
The Family ◽  
Northern Chinese

Purpose: To demonstrate the underlying genetic defect that contribute to inherited cataract in a northern Chinese pedigree. Methods: The study recruited a family pedigree with a diagnosis of bilateral coronary cataract with blue punctate opacities. Fourteen family members and 100 healthy volunteers were enrolled. DNA sample of the proband in this family were analyzed by high-throughput sequencing, which was then demonstrated by Sanger sequencing in the remained people in the family and 100 controls. The functional effect of mutant genes was investigated via bioinformatics analysis, including Polymorphism Phenotyping version2 (PolyPhen-2), Protein Variation Effect Analyzer (PROVEAN v1.1.3) Scale-Invariant Feature Transform (SIFT), and Mutation Taster. Results: In this three-generation family, a novel heterozygous mutation was found in the kinase domain of CRYBA1 gene (c.340C > T, p.R114C), which was only detected in patients in the family with inherited cataract and were not detected in the remained people in the family nor in normal people. The pathogenic effect of the mutation was verified via bioinformatics analysis. Conclusion: Our study presented the molecular experiments to confirm that a novel missense mutation of c.340 C > T located in exon 4 of CRYBA1 gene results in a bilateral coronary cataract with blue punctate opacities, which enriches the mutation spectrum of CRYBA1 gene in inherited cataract and deepens the understanding of the pathogenesis of inherited cataract.

scholarly journals Screening and Brief Intervention for the use of alcohol and other drugs

2018 ◽  
Vol 71 (suppl 5) ◽  
pp. 2258-2263 ◽  
Author(s):  
Ângela Maria Mendes Abreu ◽  
Rafael Tavares Jomar ◽  
Gunnar Glauco de Cunto Taets ◽  
Maria Helena do Nascimento Souza ◽  
Daiane Belisário Fernandes
Keyword(s):  
Brief Intervention ◽  
Family Health ◽  
Cross Sectional Study ◽  
Screening And Brief Intervention ◽  
Cross Sectional ◽  
Health Strategy ◽  
The Family ◽  
Family Health Strategy ◽  
Substance Involvement ◽  
Alcohol And Other Drugs

ABSTRACT Objective: to identify the lifetime use of alcohol and other drugs among users of the Family Health Strategy and apply Brief Intervention to problems related to the use of these substances. Method: a descriptive cross-sectional study where 1,031 users of the Family Health Strategy of the city of Rio de Janeiro answered a form with socio-demographic information and the Alcohol, Smoking and Substance Involvement Screening Test. Statistical analysis with simple frequency distribution was performed. Results: the most commonly used drugs in lifetime were alcohol and tobacco; among the illegal drugs, marijuana, hypnotics and cocaine/crack stood out. Those who received most Brief Intervention were users of tobacco, hypnotics, marijuana, cocaine/crack and alcohol. Conclusion: it is important to detect early problems associated with the use of alcohol and other drugs in Primary Care, since it has the promotion/protection of health and the prevention of diseases as priority health practices.

scholarly journals Study on the Management Pattern of Wenzhou Family Enterprises under Traditional Chinese Thoughts and Ideas

2017 ◽  
Vol 6 (2) ◽  
pp. 46
Author(s):  
Chunxiao Li ◽  
Jiahui Yao
Keyword(s):  
Capital Investment ◽  
Management Mode ◽  
Management Model ◽  
Family Management ◽  
Chinese Family ◽  
Enterprise Development ◽  
Perspective View ◽  
Chinese Thought ◽  
Family Enterprises ◽  
The Family

This paper studies the management model of typical Chinese family from the perspective of Chinese thought history, and defines the ideological and industrial advantages of its special management mode. From the perspective view of human resources, capital investment and product development, how to transform and upgrade the family management mode are discussed so as to adapt to the enterprise development during the Internet era.

Research on Management Model of Chinese Family-Holding Business under Market Economy

2011 ◽  
Vol 403-408 ◽  
pp. 313-317
Author(s):  
Li Zhang
Keyword(s):  
Market Economy ◽  
Family Business ◽  
Development Stage ◽  
Management Model ◽  
Current Status ◽  
Family Management ◽  
Chinese Family ◽  
Enterprise System ◽  
Modern Enterprise ◽  
The Family

In China, the family business usually implement paternalistic management model at the startup. When the enterprise scale enlarged, along with the change of the outside environment, the risk and uncertainty of the enterprise management will be increased and the distortions of family management model will become increasingly clear. Therefore, it is an irresistible trend to carry out reforms on the family business governance model. This paper analyzed the current status of Chinese family management model, pointed out the opportunity under the market economy for family business accelerating its development, and summarized the four models of Chinese family business governance. Currently, under the market economy, the biggest problem faced by Chinese family business is not how to transform into modern enterprise, but how to realize their sustainable development. To build a modern enterprise system is just an important destination for family business development, but can’t be the only choose at the present stage. A precisely suitable enterprise system is established according to the time, place, different industry, scale, development stage and background, while there is no standard model of universal application.

scholarly journals Language Choice Used by Chinese Family in Langsa

2018 ◽  
Vol 2 (2) ◽  
pp. 166
Author(s):  
Yusmawati Yusmawati ◽  
Cut Intan Lestari ◽  
Nurul Hidayah
Keyword(s):  
Urban Areas ◽  
Qualitative Method ◽  
Language Choice ◽  
Social Condition ◽  
Chinese Family ◽  
Cultural Tradition ◽  
Chinese Families ◽  
Language Selection ◽  
The Family ◽  
The Town

The research aims at identifying the language choice used by Chinese family in Langsa, the phenomenon that has long been seen in Chinese families: having tendency to choose Indonesian as the second language in their families even though they live in the Aceh region. This phenomenon is not only seen in the town but also in urban areas. The emergence of language selection is caused by the occurrence of language, social condition, and cultural tradition. The interesting thing to look at and study in connection with this phenomenon is that members in the family are from the Chinese ethnic group and speakers of native Chinese but the language used to communicate with the community in the chosen environment is Indonesian. The focus of this research is to analyze language selection Indonesia in a Chinese family in Langsa. The research is executed by means of descriptive qualitative method supported by the technique of interview to get deep information about the language choice.

A novel variant in PAX6 as the cause of aniridia in a Chinese family

2020 ◽  
Author(s):  
Xin Jin ◽  
Wei Liu ◽  
HouBin Huang
Keyword(s):  
Nonsense Mutation ◽  
Novel Mutation ◽  
Causative Mutation ◽  
Chinese Family ◽  
The Novel ◽  
Targeted Next Generation Sequencing ◽  
Iris Defect ◽  
The Family ◽  
Novel Variant ◽  
Pax6 Mutation

Abstract Background: Aniridia is a kind of congenital human panocular anomaly, which is related to PAX6 commonly. Methods: A Chinese Aniridia pedigree underwent ophthalmic examinations, including visual acuity, slit lamp and fundoscopy examination. The targeted next-generation sequencing of Aniridia genes was used to identify the causative mutation. Results: A novel heterozygous PAX6 nonsense mutation c.619A>T (p.K207*) was identified in the Chinese autosomal dominant family with aniridia. Phenotypes related to the novel mutation include nystagmus, iris defect, cataract and absence of macular fovea. Conclusion: The novel nonsense mutation in PAX6 was responsible for aniridia phenotype in the family. which expands the spectrum of the PAX6 mutation and its associated phenotype.

scholarly journals Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Sha Zhao ◽  
Zhenqing Luo ◽  
Zhenghui Xiao ◽  
Liping Li ◽  
Rui Zhao ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Case Presentation ◽  
Cohen Syndrome ◽  
The Family ◽  
Sporadic Cases

Abstract Background Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. Case presentation A Chinese family with two offspring–patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly. Conclusions This study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS.

A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2

Cephalalgia ◽  
2019 ◽  
Vol 39 (11) ◽  
pp. 1382-1395
Author(s):  
Wenjing Tang ◽  
Meichen Zhang ◽  
Enchao Qiu ◽  
Shanshan Kong ◽  
Yingji Li ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Pathogenic Mutation ◽  
Familial Hemiplegic Migraine ◽  
Chinese Family ◽  
Hemiplegic Migraine ◽  
Pathogenic Potential ◽  
The Family

Background ATP1A2 has been identified as the genetic cause of familial hemiplegic migraine type 2. Over 80 ATP1A2 mutations have been reported, but no data from Chinese family studies has been included. Here, we report the first familial hemiplegic migraine type 2 Chinese family with a novel missense mutation. Methods Clinical manifestations in the family were recorded. Blood samples from patients and the unaffected members were collected for whole-exome sequencing to identify the pathogenic mutation. Seven online softwares (SIFT, PolyPhen-2, PROVEAN, PANTHER, MutationTaster2, MutationAssessor and PMut) were used for predicting the pathogenic potential of the mutation. PredictProtein, Jpred 4 and PyMOL were used to analyze structural changes of the protein. The mutation function was further tested by Methylthiazolyldiphenyl-tetrazolium bromide (MTT) assay. Results All patients in the family had typical hemiplegic migraine attacks. Co-segregation of the mutation with the migraine phenotype in four generations, with 10 patients, was completed. The identified novel mutation, G762S in ATP1A2, exhibited the disease-causing feature by all the predictive softwares. The mutation impaired the local structure of the protein and decreased cell viability. Conclusion G762S in ATP1A2 is a novel pathogenic mutation identified in a Chinese family with familial hemiplegic migraine, which causes loss of function by changing the protein structure of the Na+/K+-ATPase α2 subunit.

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