Chinese medical journal
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Chinese medical journal · Jul 2015
New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients.
Facioscapulohumeral muscular dystrophy (FSHD), a common autosomal dominant muscular disorder, is caused by contraction of the D4Z4 repeats on 4q35. The complicated genotype-phenotype correlation among different ethnic population remains a controversial subject. We aimed to refine this correlation in order to provide new information for genetic counseling. ⋯ Although the number of D4Z4 repeats is known as one of the critical influences on genotype-phenotype correlation, a majority of phenotypic spectrum was still incompatible with their heterozygous contraction of the D4Z4 repeat, especial in female cases. Our results suggest that there are multi-factors synergistically modulating the phenotypic expression.
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Chinese medical journal · Jul 2015
Variants of Interferon Regulatory Factor 5 are Associated with Neither Neuromyelitis Optica Nor Multiple Sclerosis in the Southeastern Han Chinese Population.
Neuromyelitis optica (NMO) and multiple sclerosis (MS) are demyelinating disorders of the central nervous system. Interferon regulatory factor 5 (IRF5) is a common susceptibility gene to different autoimmune disorders. However, the association of IRF5 variants with NMO and MS patients has not been well studied. Therefore, we aimed to evaluate whether IRF5 variants were associated with NMO and MS in the Southeastern Han Chinese population. ⋯ Our preliminary study indicates that genetic variants in IRF5 may affect neither NMO nor MS in the Southeastern Han Chinese population. Further studies with a large sample size and diverse ancestry populations are needed to clarify this issue.
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The objective was to review the major differences of Huntington disease (HD) in Asian population from those in the Caucasian population. ⋯ The lower epidemiology in Asians can be partly explained by the less cytosine-adenine-guanine repeats, different haplotypes, and CCG polymorphisms. For the physicians, atypical clinical profiles such as the initial symptom of ataxia, movement abnormalities of Parkinsonism, dystonia, or tics need to be paid more attention to and suggest gene testing if necessary. Moreover, some pathogenesis studies may help progress some new advanced treatments. The clinicians in Asian especially in China should promote the usage of genetic testing and put more effects in rehabilitation, palliative care, and offer comfort of patients and their families. The unified HD rating scale also needs to be popularized in Asia to assist in evaluating the progression of HD.
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Chinese medical journal · Jul 2015
Mitochondrial DNA Haplogroups and the Risk of Sporadic Parkinson's Disease in Han Chinese.
Mitochondrial dysfunction is linked to the pathogenesis of Parkinson's disease (PD). However, the precise role of mitochondrial DNA (mtDNA) variations is obscure. On the other hand, mtDNA haplogroups have been inconsistently reported to modify the risk of PD among different population. Here, we try to explore the relationship between mtDNA haplogroups and sporadic PD in a Han Chinese population. ⋯ Our study indicates that haplogroup B might confer a lower risk for EOPD and people younger than 50 years in Han Chinese, while haplogroup D probably lead a higher risk of PD in people younger than 50 years of age. In brief, particular Asian mtDNA haplogroups likely play a role in the pathogenesis of PD among Han Chinese.
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Chinese medical journal · Jul 2015
Nutrient Intakes of Pregnant Women and their Associated Factors in Eight Cities of China: A Cross-sectional Study.
During the last 3 decades, China has dramatic changes of the dietary pattern among its citizens, particularly in urban cities. This study aimed to determine the nutrient intake status and factors associated with nutrient intakes of urban Chinese pregnant women now-a-day. ⋯ Current prenatal dietary choices of urban pregnant women in China are imbalanced in the nutrient intake when compared with national DRIs 2013, particularly in intakes of energy derived from fat and micronutrients. Appropriate dietary advice to pregnant women should promote a balanced diet with emphasis on avoidance of foods of high fat content and incorporation of foods that are good sources of the key micronutrients that are usually lacking in a regular pregnancy diet. Further research is needed to understand the eating habits and food patterns that contribute to this imbalanced diet in order to be able to effectively improve prenatal women's nutrient intake status.