Finding a way: multiple mothering in a Chinese infant observation

2021 ◽  
Vol 4 (2) ◽  
pp. 194-209
Author(s):  
Vivienne Elton
Keyword(s):  
Infant Development ◽  
Chinese Family ◽  
Research Model ◽  
Independent Research ◽  
Her Family ◽  
Infant Observation

This article describes an observation of a Chinese family by a student observer who employed the technique of infant observation to understand the experience of a Chinese infant and her family, and who was supervised in this endeavour by the author. This process is employed worldwide in the education of psychotherapists and psychoanalysts and is also an independent research model for understanding the intimacies of infant development in a wide variety of circumstances.

scholarly journals Krabbe Disease Associated With Mitochondrial Dysfunction in a Chinese Family

2021 ◽  
Vol 12 ◽  
Author(s):  
Liwen Wu ◽  
Xiangfu Liao ◽  
Sai Yang ◽  
Siyi Gan
Keyword(s):  
Function Analysis ◽  
Mitochondrial Gene ◽  
Gene Mutations ◽  
Careful Consideration ◽  
Krabbe Disease ◽  
Chinese Family ◽  
Polygenic Inheritance ◽  
Her Family ◽  
Gene Functions ◽  
Biallelic Mutations

Background: Krabbe disease is caused by biallelic mutations of GALC gene. NDUFAF1 gene mutations are related to mitochondrial encephalopathy. To date, there has been no report on the co-pathogenesis of these two gene mutations. There were three children in a family who presented with global developmental retardation. MRI showed lesions in the white matter and dentate nucleus of the cerebellum.Methods: Clinical data of the proband and her family members were gathered in a retrospective manner. Karyotype, FISH, whole exome sequencing was performed using genomic DNAs extracted from peripheral blood samples. Enzyme activities of galactosylceramidase (GALC) and mitochondria were determined to verify gene functions.Results: This study reported a pedigree of leukoencephalopathy, in which 3 of the 4 children showed phenotypes of developmental delay, hearing/visual impairment, and peripheral neuropathy. Mutations of NDUFAF1 (c.278A>G; p. His93Arg, c.247G> A; p. Asp83Asn) and GALC (c.599C>A; p.Ser200*) were identified in all three cases. The proband's parents carried these mutations as a heterozygous state. Clinical features, MRI changes, enzyme activity of GALC, and mitochondrial function analysis demonstrated that this pedigree was caused by GALC and NDUFAF1 gene mutations working together.Conclusion: We first report a pedigree of Krabbe disease with biallelic mitochondrial gene NDUFAF1 mutations. For multiple gene mutations found in genetic testing, clinical phenotypes, gene functions, and family history should be comprehensively analyzed. Gene panel examination may miss pathogenic mutations, and prenatal diagnosis of patients with polygenic inheritance needs careful consideration.

scholarly journals Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hui Jiang ◽  
Chunmiao Guo ◽  
Jie Xie ◽  
Jingxin Pan ◽  
Ying Huang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Muscle Atrophy ◽  
Nonsense Mutation ◽  
Bioinformatics Analysis ◽  
Diagnostic Delay ◽  
Chinese Family ◽  
Skeletal Deformity ◽  
Her Family ◽  
Whole Exome ◽  
The Family

Abstract Background Due to large genetic and phenotypic heterogeneity, the conventional workup for Charcot-Marie-Tooth (CMT) diagnosis is often underpowered, leading to diagnostic delay or even lack of diagnosis. In the present study, we explored how bioinformatics analysis on whole-exome sequencing (WES) data can be used to diagnose patients with CMT disease efficiently. Case presentation The proband is a 29-year-old female presented with a severe amyotrophy and distal skeletal deformity that plagued her family for over 20 years since she was 5-year-old. No other aberrant symptoms were detected in her speaking, hearing, vision, and intelligence. Similar symptoms manifested in her younger brother, while her parents and her older brother showed normal. To uncover the genetic causes of this disease, we performed exome sequencing for the proband and her parents. Subsequent bioinformatics analysis on the KGGSeq platform and further Sanger sequencing identified a novel homozygous GDAP1 nonsense mutation (c.218C > G, p.Ser73*) that responsible for the family. This genetic finding then led to a quick diagnosis of CMT type 4A (CMT4A), confirmed by nerve conduction velocity and electromyography examination of the patients. Conclusions The patients with severe muscle atrophy and distal skeletal deformity were caused by a novel homozygous nonsense mutation in GDAP1 (c.218C > G, p.Ser73*), and were diagnosed as CMT4A finally. This study expanded the mutation spectrum of CMT disease and demonstrated how affordable WES could be effectively employed for the clinical diagnosis of unexplained phenotypes.

scholarly journals Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Shiyu Zhang ◽  
Jiaxing Song ◽  
Yuyan Yang ◽  
Huilei Miao ◽  
Lu Yang ◽  
...  
Keyword(s):  
Mutation Screening ◽  
Missense Variant ◽  
Skin Lesions ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Therapeutic Effects ◽  
Type I ◽  
Her Family ◽  
Compound Heterozygous Variants ◽  
Type I Interferonopathies

Abstract Background Type I interferonopathies are a group of rare autoimmune diseases characterised by excessive activation of type I interferon that leads to disturbances in immune function. Three prime repair exonuclease 1 (TREX1) is an important exonuclease and plays an important role in DNA damage repair. TREX1 mutations are associated with many type I interferonopathies. Studies have been published on the effectiveness of tofacitinib in the treatment of type I interferonopathies. The aim of this study is to identify the pathogenic variation in a Chinese family with type I interferonopathies and to observe the therapeutic effects of tofacitinib. Methods A Chinese family with two members with type I interferonopathies was investigated. Whole exome sequencing and Sanger sequencing were applied for mutation screening using peripheral blood DNA of the patient and her family members. Sequencing results were analysed using bioinformatics software tools including VarCards and PolyPhen-2. Close clinical follow-up and observation were used to record changes in the disease before and after treatment with tofacitinib. Results Compound heterozygous variants of TREX1 were observed in the patient’s genome. One was a missense variant (NM_016381; c.C227T; p.Ala76Val) from the patient’s father, and the other was a frameshift variant (NM_016381; c.458dupA; p.Gln153Glnfs*3) from the patient’s mother. One of the proband’s elder brothers with similar skin lesions also carried these two variants. This brother of the proband had more serious cutaneous involvement with the comorbidity of cerebral palsy. These TREX1 variants have not been reported in previous studies and are predicted to be highly pathogenic. The proband was given tofacitinib that led to a marked improvement. Conclusions We identified two novel complex heterozygous variants in the TREX1 gene, which may underlie the molecular pathogenesis of the type I interferonopathies observed in members of this family. Tofacitinib could be an alternative treatment for this disease.

Conceptualization and theorization of terminology translation in humanities and social sciences

Terminology ◽  
2018 ◽  
Vol 24 (2) ◽  
pp. 262-288 ◽  
Author(s):  
Xiangqing Wei
Keyword(s):  
Social Sciences ◽  
Research Field ◽  
Research Model ◽  
Independent Research ◽  
Initial Attempt ◽  
Holistic View ◽  
Humanities And Social Sciences ◽  
Cultural Functions

Abstract In recent decades, the scope of terminology research has been extended. The peculiarities and complexities of terminology are further ascertained by the exploration into the practice of terminology translation in the field of humanities and social sciences. The cultural functions that terminology in this research field (H&SS terms) fulfill and the intrinsic difficulties involved in translating them are worth further investigation. This paper based on some reflections of the development of the NUTermBank discusses the legitimacy of terminology translation as independent research and makes an initial attempt to theorize about how the research can be actually carried out. A holistic view of terminology translation is taken and a 3-M research model is proposed in this paper.

AAC Collaboration Using the Self-Anchored Rating Scales (SARS): An Aphasia Case Study

2012 ◽  
Vol 21 (4) ◽  
pp. 136-143
Author(s):  
Lynn E. Fox
Keyword(s):  
Augmentative And Alternative Communication ◽  
Rating Scales ◽  
Rating Scale ◽  
Therapeutic Process ◽  
Family Counseling ◽  
The Self ◽  
Alternative Communication ◽  
Her Family ◽  
Solution Focused

Abstract The self-anchored rating scale (SARS) is a technique that augments collaboration between Augmentative and Alternative Communication (AAC) interventionists, their clients, and their clients' support networks. SARS is a technique used in Solution-Focused Brief Therapy, a branch of systemic family counseling. It has been applied to treating speech and language disorders across the life span, and recent case studies show it has promise for promoting adoption and long-term use of high and low tech AAC. I will describe 2 key principles of solution-focused therapy and present 7 steps in the SARS process that illustrate how clinicians can use the SARS to involve a person with aphasia and his or her family in all aspects of the therapeutic process. I will use a case study to illustrate the SARS process and present outcomes for one individual living with aphasia.

Assessment 360°: A Panoramic Framework for Assessing English Language Learners

2010 ◽  
Vol 17 (2) ◽  
pp. 37-56 ◽  
Author(s):  
Nancy Lewis ◽  
Nancy Castilleja ◽  
Barbara J. Moore ◽  
Barbara Rodriguez
Keyword(s):  
English Language Learners ◽  
Language Learners ◽  
English Language ◽  
Linguistically Diverse ◽  
Assessment Process ◽  
Assessment Practices ◽  
Her Family ◽  
Diverse Student ◽  
Many Sources

This issue describes the Assessment 360° process, which takes a panoramic approach to the language assessment process with school-age English Language Learners (ELLs). The Assessment 360° process guides clinicians to obtain information from many sources when gathering information about the child and his or her family. To illustrate the process, a bilingual fourth grade student whose native language (L1) is Spanish and who has been referred for a comprehensive language evaluation is presented. This case study features the assessment issues typically encountered by speech-language pathologists and introduces assessment through a panoramic lens. Recommendations specific to the case study are presented along with clinical implications for assessment practices with culturally and linguistically diverse student populations.

420 A novel SCN5A mutation (R878C) associated with sick sinus syndrome in one Chinese family

2006 ◽  
Vol 5 (1) ◽  
pp. 98-98
Author(s):  
Y ZHANG ◽  
A MA ◽  
H WAN ◽  
C HUANG ◽  
X ZHOU ◽  
...  
Keyword(s):  
Sick Sinus Syndrome ◽  
Chinese Family ◽  
Scn5a Mutation

The Structure of Wiggins' Interpersonal Circumplex: Cross-Cultural Studies

1999 ◽  
Vol 15 (3) ◽  
pp. 196-205 ◽  
Author(s):  
Rosario Martínez-Arias ◽  
Fernando Silva ◽  
Ma Teresa Díaz-Hidalgo ◽  
Generós Ortet ◽  
Micaela Moro
Keyword(s):  
Cultural Studies ◽  
Cross Cultural ◽  
The Other ◽  
Spanish Version ◽  
Interpersonal Circumplex ◽  
Research Groups ◽  
Independent Research ◽  
Research Results ◽  
Cross Cultural Studies

Summary: This paper presents the results obtained in Spain with The Interpersonal Adjective Scales of J.S. Wiggins (1995) concerning the variables' structure. There are two Spanish versions of IAS, developed by two independent research groups who were not aware of each other's work. One of these versions was published as an assessment test in 1996. Results from the other group have remained unpublished to date. The set of results presented here compares three sources of data: the original American manual (from Wiggins and collaborators), the Spanish manual (already published), and the new IAS (our own research). Results can be considered satisfactory since, broadly speaking, the inner structure of the original instrument is well replicated in the Spanish version.

Facet Theory

1998 ◽  
Vol 3 (1) ◽  
pp. 13-36 ◽  
Author(s):  
Ruth Guttman ◽  
Charles W. Greenbaum
Keyword(s):  
Data Analysis ◽  
Animal Behavior ◽  
Infant Development ◽  
Facet Theory ◽  
Structural Relationships ◽  
Future Challenges ◽  
Spatial Configurations ◽  
Multidimensional Methods ◽  
Definition Of ◽  
Scalogram Analysis

This article gives an overview of Facet Theory, a systematic approach to facilitating theory construction, research design, and data analysis for complex studies, that is particularly appropriate to the behavioral and social sciences. Facet Theory is based on (1) a definitional framework for a universe of observations in the area of study; (2) empirical structures of observations within this framework; (3) a search for correspondence between the definitional system and aspects of the empirical structure for the observations. The development of Facet Theory and Facet Design is reviewed from early scale analysis and the Guttman Scale, leading to the concepts of “mapping sentence,” “universe of content,” “common range,” “content facets,” and nonmetric multidimensional methods of data analysis. In Facet Theory, the definition of the behavioral domain provides a rationale for hypothesizing structural relationships among variables employed in a study. Examples are presented from various areas of research (intelligence, infant development, animal behavior, etc.) to illustrate the methods and results of structural analysis with Smallest Space Analysis (SSA), Multidimensional Scalogram Analysis (MSA), and Partial Order Scalogram Analysis (POSA). The “radex” and “cylindrex” of intelligence tests are shown to be outstanding examples of predicted spatial configurations that have demonstrated the ubiquitous emergence of the same empirical structures in different studies. Further examples are given from studies of spatial abilities, infant development, animal behavior, and others. The use of Facet Theory, with careful construction of theory and design, is shown to provide new insights into existing data; it allows for the diagnosis and discrimination of behavioral traits and makes the generalizability and replication of findings possible, which in turn makes possible the discovery of lawfulness. Achievements, issues, and future challenges of Facet Theory are discussed.

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