Novel chloride channel mutations leading to mild myotonia among Chinese

We describe two Chinese families with a mild form of the myotonia congenita due to novel chloride channel (ClCN1) mutations. In one case, heterozygous I553F and H555N mutations were found. The patient shared the I553F mutation with his healthy father, and his mother had a history of mild myotonia when she was younger. In another family, autosomal dominant myotonia congenita was due to a L844F change. The physiological effects of the mutations were examined by using the two-electrode voltage-clamp technique after expression of the channels in Xenopus oocytes. All mutations drastically shifted the voltage required for half-maximal activation, more under conditions mimicking the homozygous situation, than under conditions mimicking the heterozygous situation. The larger effect was seen in the compound heterozygous situation combining the I553F and the H555N mutations. Our data suggest that myotonia congenita caused by CLCN1 mutations in Chinese have similar variable features to those found in the West.

Diffusion tensor imaging of two unrelated Chinese men with hereditary spastic paraplegia associated with thin corpus callosum

Hereditary spastic paraplegia (HSP) associated with thin corpus callosum is a rare autosomal recessive neurodegenerative disorder characterized by an abnormally thin corpus callosum, normal motor development, slowly progressive spastic paraparesis and cognitive deterioration. To investigate and localize abnormalities in the brains of two Chinese patients with HSP-TCC, with mutations in the spatacsin gene. Diffusion tensor imaging (DTI) was used to determine the mean diffusion (MD) and fractional anisotropy (FA) in the brains of the patients in comparison to 20 healthy subjects. Voxel-based analysis (VBA) of both the diffusion and anisotropy values were performed using statistical parametric mapping (SPM). Significant changes with MD increase and FA reduction were found in the already known lesions including the corpus callosum, cerebellum and thalamus. In addition, changes were also found in regions that appear to be normal in conventional MRI, such as the brain stem, internal capsule, cingulum and subcortical white matter including superior longitudinal fascicle and inferior longitudinal fascicle. Neither increase in FA nor reduction in MD was detected in the brain. Our study provides clear in vivo MR imaging evidence of a more widespread brain involvement of HSP-TCC. MD is more sensitive than FA in detecting lesions in thalamus and subcortical white matter, suggesting that MD may be a better marker of the disease progression.

A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome

In a Chinese myoclonus-dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the epsilon-sarcoglycan (SGCE) gene, leading to a frameshift with a down stream stop codon. Low SGCE mRNA levels were detected in the mutation carriers by real-time PCR, suggesting that the nonsense mutation might interfere with the stability of SGCE mRNA. This is the first report on Chinese with a SGCE mutation leading to MDS. Our data support the fact that same mutation of SGCE gene can lead to a varied phenotype, even in the same family.

Thematic and Situational Features of Chinese BBS Texts

This study adopts the framework of Systemic Functional Grammar (SFG; Halliday, 1994/2000; Halliday & Matthiessen, 2004) to investigate thematic features in messages sent to an electronic bulletin board system (BBS) in mainland China. As a concept derived from the Prague School, theme in SFG has been identified as “the point of departure of the message; it is that which locates and orients the clause within its context” (Halliday & Matthiessen, 2004, p. 64). Thematic features in the Chinese data are found to relate to the situational features of the BBS, the analysis of which is based on the frameworks of Biber (1988) and Herring (2007). The relevant situational features are further generalized into the three components of context: field, tenor, and mode (Halliday & Hasan, 1985) in order to examine the relation between thematic features and situational features. The study’s findings show that thematic features are more closely related to the field (nature of the activity) than to the mode, contrary to Halliday’s (1978/2001) claim that theme, as a realization of the textual meaning, is determined by the mode (medium). In concluding, this discrepancy is explored.

Chinese Internet language: A sociolinguistic analysis of adaptations of the Chinese writing system

This paper examines the adaptations of the writing system in Internet language in mainland China from a sociolinguistic perspective. A comparison is also made of the adaptations in mainland China with those that Su (2003) found in Taiwan. In Computer-Mediated Communication (CMC), writing systems are often adapted to compensate for their inherent inadequacies (such as difficulty in input). Su (2003) investigates the creative uses of the writing system on the electronic bulletin boards (BBS) of two college student organizations in Taipei, Taiwan, and identifies four popular and creative uses of the Chinese writing system: stylized English, stylized Taiwanese-accented Mandarin, stylized Taiwanese, and the recycling of a transliteration alphabet used in elementary education. According to Coupland (2001; cited in Su 2003), stylization is “the knowing deployment of culturally familiar styles and identities that are marked as deviating from those predictably associated with the current speaking context”. Within this framework and drawing on the data in previous publications on Internet language and online sources, this study identifies five types of adaptations in mainland China’s Internet language: stylized Mandarin (e.g., 漂漂 piāopiāo for 漂亮 ‘beautiful’), stylized dialect-accented Mandarin (e.g., 灰常 huīcháng for 非常 ‘very much’), stylized English (e.g., 伊妹儿 yīmèier for ‘email’), stylized initials (e.g., bt 变态 biàntài for ‘abnormal’; pk, short form for ‘player kill’), and stylized numbers (e.g., 9494 jiùshi jiùshi 就是就是 ‘that is it’). The Internet community is composed of highly mobile individuals and thus forms a weak-tie social network. According to Milroy and Milroy (1992), a social network with weak ties is often where language innovation takes place. Adaptations of the Chinese writing system in Internet language provide interesting evidence for the innovations within a weak-tie social network. Our comparison of adaptations in mainland China and Taiwan shows that, in maximizing the effectiveness and functionality of their communication, participants of Internet communication are confronted with different language resources and situations, including differences in Romanization systems, English proficiency level, and attitudes towards English usage. As argued by Milroy and Milroy (1992), a weak-tie social network model can bridge the social class and social network. In the Internet community, the degree of diversity of the stylized linguistic varieties indexes the virtual and/or social status of its participants: the more diversified one’s Internet language is, the higher is his/her virtual and/or social status.

Clinical and histological characterization of hair coat and glandular tissue of Chinese crested dogs.

BACKGROUND Two varieties exist in the Chinese crested dog breed, namely hairless Chinese crested dogs presenting with hypotrichosis and dentition abnormalities, and the coated powderpuffs. Hairless Chinese crested dogs are obligate heterozygotes for a FOXI3 mutation, and this phenotype is classified as a form of canine ectodermal dysplasia. OBJECTIVES We provide a detailed histological description of hair follicles and their density for the three subphenotypes (true hairless, semi-coated and powderpuffs) of Chinese crested dogs. Apocrine and exocrine glands of the skin and other tissues were compared with findings reported from dogs with X-linked ectodermal dysplasia. ANIMALS Skin biopsies were collected from 22 Chinese crested dogs. Additionally, the glands of the skin and other tissues were examined from another two dogs available for postmortem examination. METHODS Skin biopsies and tissues were processed, stained and evaluated in a blinded fashion. RESULTS Hair follicular anomalies decreased with increasing number of hairs in the different phenotypes. The FOXI3 mutants had only simple primary hair follicles, whereas the nonmutant powderpuffs had compound follicles identical to other dog breeds. All Chinese crested dogs had an anagen-dominated hair cycle. Furthermore, apocrine glands in the skin and respiratory mucous glands of the mutant Chinese crested dogs were present and normal. CONCLUSIONS AND CLINICAL IMPORTANCE We have identified striking histopathological differences between the three subphenotypes of Chinese crested dogs. We clearly demonstrated distinct differences between the canine ectodermal dysplasia in Chinese crested dogs and dogs with X-linked ectodermal dysplasia.