3 results on '"Wong, Virginia"'
Search Results
2. Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.
- Author
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Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, Jardim LB, Giunti P, Riess O, Ranum LP, Brice A, Rouleau GA, Coutinho P, Amorim A, and Sequeiros J
- Subjects
- Asia epidemiology, Emigration and Immigration, Europe epidemiology, Founder Effect, Haplotypes, Humans, Japan epidemiology, Polymorphism, Single Nucleotide genetics, Population, Portugal epidemiology, Tandem Repeat Sequences genetics, Machado-Joseph Disease epidemiology, Machado-Joseph Disease genetics, Mutation physiology
- Abstract
Background: Machado-Joseph disease is the most frequent dominant ataxia worldwide. Despite its frequency and presence in many populations, only 2 founder mutations have been suggested to explain its current geographic distribution., Objectives: To trace back in history the main mutational events in Machado-Joseph disease, we aimed to assess ancestral haplotypes and population backgrounds, to date the mutations, and to trace the routes and time of introduction of the founder haplotypes in different populations., Design, Setting, and Participants: We studied 264 families with Machado-Joseph disease from 20 different populations. Six intragenic single-nucleotide polymorphisms were used to determine ancestral mutational events; 4 flanking short tandem repeats were used to construct extended haplotypes and measure accumulation of genetic diversity over time within each lineage., Results: The worldwide-spread lineage, TTACAC, had its highest diversity in the Japanese population, where we identified the ancestral short tandem repeat-based haplotype. Accumulated variability suggested a postneolithic mutation, about 5774 +/- 1116 years old, with more recent introductions in North America, Germany, France, Portugal, and Brazil. As to the second mutational event, in the GTGGCA lineage, only 7 families (of 71 families) did not have Portuguese ancestry, although gene diversity was again smaller in Portuguese families (0.44) than in non-Portuguese families (0.93)., Conclusions: The worldwide-spread mutation may have first occurred in Asia and later been diffused throughout Europe, with a founder effect accounting for its high prevalence in Portugal; the other Machado-Joseph disease lineage is more recent, about 1416 +/- 434 years old, and its dispersion may be explained mainly by recent Portuguese emigration.
- Published
- 2007
- Full Text
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3. Functional Independence Measure for Children: a comparison of Chinese and Japanese children.
- Author
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Wong SS and Wong VC
- Subjects
- Child, Child, Preschool, Female, Hong Kong ethnology, Humans, Infant, Japan ethnology, Male, Reference Values, Activities of Daily Living, Asian People psychology, Child Behavior ethnology, Child Behavior physiology, Cognition physiology, Motor Activity physiology
- Abstract
Objective: The Functional Independence Measure for Children (WeeFIM) is a simple-to-administer scale for assessing functional independence across 3 domains (self-care, mobility, cognition) in children. There are normative data from America and Japan. In 2001 to 2002, the authors created a normative Chinese WeeFIM profile and compared this with the American one. In this study, they aimed to compare their Chinese normative data with the Japanese one., Methods: A random sampling of 445 normal Chinese children from different social classes in Hong Kong was conducted in the community. It was conducted via face-to-face interviews with the mother, and a normative database was created., Results: Similar to the Japanese children, the WeeFIM total score and 3 main domain subscores (self-care, mobility, and cognition) increased progressively with age. In the self-care domain, Chinese children achieved modified independence or level 6 earlier in all items except toileting. For the mobility domain, the item chair transfer was achieved earlier in the Chinese children, whereas toilet transfer, stair, tub transfer, and locomotion were achieved later in Chinese children. As for cognition domain, the item problem solving was achieved earlier but comprehension, social interaction, and memory were achieved later in the Chinese children. The authors' results showed the same pattern of increasing WeeFIM score with increasing chronological age, which is similar to the Japanese children. There are 3 patterns of WeeFIM score achievement in this Chinese cohort. As for the Japanese children, the 3 patterns of WeeFIM score achievement from independent to dependent are 1) rapid change, 2) gradual change, and 3) linear change., Conclusions: WeeFIM is a validated standardized tool for assessing the outcome of rehabilitation programs. It should be widely used to assess rehabilitative achievement in children from different ethnic origins. The authors' previous study and this current study demonstrated that the authors' normative WeeFIM profile showed similar results to the American and Japanese children. However, there are minor differences in the WeeFIM scoring in the 3 main domains, which might be due to cultural differences between ethnic groups. Thus, usage of the WeeFIM with a different age criteria in achieving independence according to local culture should be adopted.
- Published
- 2007
- Full Text
- View/download PDF
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