Analysis of two Chinese Han families with Duchenne/Becker muscular dystrophy / 上海交通大学学报（医学版）

Objective: To deepen the understanding of Duchenne/Becker muscular dystrophy by investigating dystrophin (DMD) gene variants in 2 Chinese Han families with this disease. Methods: Retrospective analysis of the clinical characteristics of the probands in two families with Duchnne/ Becker muscular dystrophy and the results of multiplex ligation-dependent probe amplification (MLPA) for the probands and their relatives was performed. Results: Three probands were identified by significantly-elevated creatine kinase levels. Two probands in family one are fraternal twin brothers with the same deletions of exons 8-9, while their mother has no abnormality at this site. The proband in family two is the little brother in a pair of fraternal twins with duplication of exons 48-51, and his mother has heterozygous duplication of exons 48-51. Conclusion: ① The presence of the same DMD gene mutation in the fraternal twins suggests that the mother may be a gonad chimera with this mutation if her gene detection of peripheral blood is normal. The mother must undergo prenatal gene diagnosis to reduce the risk of Duchenne/Becker muscular dystrophy in her offsprings. ② The exons 48-51 duplication of DMD gene is pathogenic mutation.

Cold temperature and risk of stroke / 国际脑血管病杂志

Many studies indicated that meteorological factors are associated with stroke risk,especially cold temperature.This article reviews the effect of cold temperature on the occurrence of stroke.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy / 国际脑血管病杂志

Cerebral small vessel disease is a group of heterogeneous diseases with stroke and cognitive impairment as the main clinical features.It can be divided into sporadic type and hereditary type.Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) belongs to hereditary cerebral small vessel disease.It has been reported in China,Japan,Spain,Greece,and other countries.The diagnosis mainly depends on characteristic clinical symptoms,imaging features,and genetic testing.CARASIL manifests as diffuse white matter abnormal signal and subcortical multiple infarcts on MRI,and it caused by HTRA1 gene mutation.

Medullary infarction / 国际脑血管病杂志

Medulla oblongata is precise in structure and the blood supply is complicated. After its infarction, it is easy to be misdiagnosed or missed because of its various clinical manifestations and lack of specificity. This article reviews the pathogenesis, clinical manifestations, and prognosis of medullary infarction in different sites.

Investigation of social support for inpatients with occupational diseases / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To investigate and analyze the social support for inpatients with occupational diseases and to provide reference and basis for relevant medical and nursing interventions.</p><p><b>METHODS</b>The social support rating scale (SSRS) was used to investigate the social support for 95 inpatients with occupational diseases.</p><p><b>RESULTS</b>The total SSRS score of these patients was significantly lower than the national norm (32.5±9.31 vs 34.56±3.73, P < 0.05). The social support was mainly from the family, but medical staff and spiritual support were the main source and type of social support that are expected.</p><p><b>CONCLUSION</b>Patients with occupational diseases have gained little social support, in both economic and spiritual aspects. In clinical practice, the patient's demand for knowledge of diseases and spiritual needs should be satisfied, and appropriate social support should be provided.</p>

Analysis of the CD4+ CD25high regulatory T cells in peripheral blood of chronic hepatitis B virus in fected patients / 中华微生物学和免疫学杂志

Objective To analyze of CD4+ CD25high regulatory T cells(Treg)in peripheral blood of chronic HBV patients and its correlation with multiple clinical indicators.Methods Thirty-five hepatitis B virus(HBV)infected patients in this study were divided into four different clinical types:HBsAb+group(n=5),inactive hepatitis group(n=8),chronic hepatitis group(n=12),and immune tolerance group(n=10).The number of CD4+CD25high Treg and related T cells subgroup in CD3/CD4/CD8 was thoroughly examined by flow cytometry in peripheral blood of HBV infected patients and the healthy contrast group(n=12).Serum HBV markers were determined by commercial ELISA kits.Serum HBV DNA was quantified by commercial real-time PCR kit.Statistical differences were studied to investigate the correlations between CD4+CD25high Treg and different clinical types of HBV infection and clinical indicators.Results The absolute counts of CD25high Treg and its frequency in CD4+ T cells were similar between HBV infected patients [(12.35±6.48)/μ,(1.82±0.87)%]and health controls[(8.91±3.11)/μl,(1.35±0.39)%],P＞0.05.The frequency of CD25high Treg in CD4+ T cells from the immune tolerance group was significantly higher than that of the HBsAb+ group,chronic hepatitis group,and the healthy contrast group(P＜0.05).The absolute counts of CD25high Treg from the immune tolerance group were significantly higher than the healthy control group(P＜0.05),and the frequency of CD25high Treg in CD4+ T cells is negatively correlated to the ALT level(r=-0.418,P=0.038),positively correlated to CD4/CD8 ratio(r=0.344,P=0.021),no correlation to the HBV DNA level(r=0.118,P＞0.05).The absolute counts of CD25high Treg were positively correlated to CD4/CD8 ratio(r=0.360,P=0.015),no correlation to ALT level and HBV DNA level(r=-0.211,r=0.060,P＞0.05).Conclusion CD4+ CD25high Treg may play a role in immunopathogenesis of chronic HBV infection.