Analysis of SLC25A13 gene mutations and prenatal diagnosis for 20 families affected with citrin deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect mutations of SLC25A13 gene in 20 families affected with citrin deficiency and provide prenatal diagnosis for them.</p><p><b>METHODS</b>The 20 probands and their parents were subjected to high-frequency mutation screening combined with Sanger sequencing. After confirming the genotype of each pedigree, genetic counseling and prenatal diagnosis were performed for their subsequent pregnancies.</p><p><b>RESULTS</b>Biallelic pathogenic mutations of the SLC25A13 gene were identified in all probands. These included three deletions (c.851del4, c.1092_1095delT, and c.495delA), two splice-site mutations (IVS6+5G to A and IVS11+1G to A), two nonsense mutations (c.775C to T (p.Q259X) and c.72T to A (p.Y24X)), one duplication mutation (c.1638_1660dup), one insertion (IVSl6ins3kb), and one missense mutation (c.1775A to C (p.Q592P)). Among 24 fetuses undergoing prenatal diagnosis, 8 had normal genotypes, 11 were mutation carriers, while 5 harbored biallelic mutations. Those with wild type alleles or heterozygous SLC25A13 mutations were delivered. Two fetuses harboring homozygous c.851del4 mutations were also delivered. Three fetuses harboring biallelic mutations were terminated.</p><p><b>CONCLUSION</b>Analysis of SLC25A13 gene mutations in families affected by citrin deficiency can provide evidence for molecular diagnosis and facilitate genetic counseling and prenatal diagnosis for the subsequent pregnancy, which can effectively reduce the risk of birth of further affected children.</p>

Advances in cerebral microbleeds / 国际脑血管病杂志

Cerebral microbleeds are new biomarkers of the cerebral small vascular disease.With the development of neuroimaging techniques,the related research of cerebral microbleeds has been paid more and more attention.The research of the correlation between cerebral microbleeds and cognitive impairment and stroke,imaging features,pathological changes,and clinical outcomes can provide an important basis for clinical treatment decisions.

Effect of Wuji Solution on Excreting Interleukin-8 of SGC-7901 Cells Infected with Helicobacter Pylori in Vitro / 中国中医药信息杂志

Objective To explore the effect of Wuji Solution (He Ji Ju Fang) on excreting IL-8 of SGC-7901 cells infected with Helicobacter pylori (H?pylori) in vitro. Methods H?pylori was inoculated to SGC-7901 cells. ELISA was applied to examine the production of interleukin-8 (IL-8) of cells infected with H?pylori. Results The production of IL-8 of infected cells was lower than that of control group (P

Relationship between the level of serum homocysteinaemia and carotid artery atherosclerosis and its change after intervention therapy / 临床神经病学杂志

Objective To explore the relationship between the level of serum homocysteinaemia(Hcy) and the carotid artery atherosclerosis(CAA),and its change after intervention therapy with folate acid and VitaminB12 (VitB12). Methods The levels of serum Hcy,folate acid and VitB12 were measured in 169 patients with cerebral infarction(CI group) and 110 normal controls(NC group). The condition of carotid arteries was checked by color dopper flow image in CI group. The relationship between the level of serum Hcy and folate acid,VitB12 and CAA condition were analysed. The change of serum Hcy level was observed after intervention treatment of folate acid and VitB12 for 4 weeks in CI patients with hyperhomocysteinaemia.Results Compared with the NC group,the level of serum Hcy was significant higher in CI group(P

NOTCH3 gene diagnosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / 临床神经病学杂志

Objective To analyse the mutation types of the NOTCH3 gene with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL). Methods Including 4 probands of CADASIL,10 cases of CADASIL and 4 normal members from 3 CADASIL families and 100 healthy controls were recruited. Genomic DNA was extracted from white blood cell. The amplicons were analyzed by the denaturing high-performance liquid chromatography (DHPLC) technique. The positive samples which identified by the DHPLC were sequenced to determine the specific mutation or polymorphism, respectively. Results Three heterozygous missense mutations including Cys90Arg, Arg141Cys, Cys134Tyr located in the exon3 and exon4 were found in the 4 probands and 10 cases of CADASIL among the 3 families. 15 polymorphisms were also found. 2 members individual from family 1 and 2 were found to carry the same pathological mutations as in their proband but without clinical symptoms. They were identified as preclinical patients. Conclusions Mutation detection of NOTCH3 is the molecular genetic mechanical for CADASIL. The exon3 and exon4 are possible hot mutation spots in Chinese patients. The mutation of Cys134Tyr in exon4 is a novel mutation which has not been reported previously in China.

The observation of sex hormone and blood clotting parameters in patients with acute cerebral infarction / 临床神经病学杂志

Objective To investigate the level of sex hormone in serum and blood clotting parameters in patients with acute cerebral infarction(ACI).Methods The level of estradiol(E 2),testosterone(Te),E 2/Te,antithrombin Ⅲ(AT Ⅲ) and fibrinogen(FIB) in the serum of 116 old patients with ACI and 78 healthy subjects were measured by ELISA, Enzyme colorimetric method.Results The concentration of E 2? E 2/Te?FIB in the male patients with ACI were higher than that of control group ( P 0.05). The concentration of FBI was higher than that of control group( P