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Objective:To study the clinical phenotype and molecular genetic characteristics of a Chinese Han family with X-linked retinoschisis (XLRS), and to determine the associated gene variations.Methods:A pedigree investigation was performed.The clinical characteristics and pedigree analysis of a Han Chinese family line with XLRS was conducted in August 2021 at the Xiamen Eye Center Affiliated to Xiamen University.All patients and the carriers underwent comprehensive medical history collection and routine ophthalmological examinations, including visual acuity, non-contact tonometer, slit lamp microscope, direct ophthalmoscope, and optical coherence tomography.The proband and some patients underwent medical optometry, fundus photography or wide-angle fundus photography, and electroretinogram examination.Peripheral venous blood samples were collected from the family members, and whole exome sequencing (WES) analysis was performed on the proband samples.For variants screened by WES, the expanded verification in other patients and normal persons in the family was carried out by Sanger sequencing.Multiple bioinformatic tools were used to analyze the pathogenicity of variants.This study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.XMYKZX-KY-2021-012). Written informed consent forms were obtained from each subject or guardian of minors.CADD, FATHMM and other bioinformatics tools were used to analyze the pathogenicity of the variation sites.Results:The Han XLRS pedigree consisted of 8 individuals in 3 generations.Out of the 3 cases diagnosed with XLRS based on clinical evaluation, all were male.The mother of the proband was a carrier of related genes.There were 5 persons with normal phenotypes.There was no history of consanguineous marriages within the family, and the disease was shown to be intergenerational, which is consistent with the recessive inheritance of the X chromosome.None of the patients had a history of systemic disease or any other abnormal manifestations.The prevailing feature of ophthalmopathy was poor binocular vision since childhood.The proband and his younger brother had spoke split in the macula, and their grandfather showed atrophy of retinal nerve fibers.Genetic analysis revealed a hemizygous variation c. 214G>C: p.Glu72Gln in the RS1 gene in all the patients in this family.The proband's mother was heterozygous at this site, and all other phenotypically normal family members exhibited wild type at this site.This variant was predicted to be a deleterious variation and likely to cause disease based on bioinformatics analysis. Conclusions:The proband and patients in this Han Chinese family have the known c. 214G>C: p.Glu72Gln hemizygous variation of the RS1 gene and exhibit mild XLRS, which was consistent with the recessive inheritance of X chromosome.
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Objective To synthetically evaluate the risk factors of recurrent cerebral infarction in Chinese population.Methods The research literature on the risk factors of recurrent cerebral infarction from the domestic December 2011 published was collected through computers literature retrieval (China Academic Journal,VIP Chinese Science and Technology Academic Journal,Wanfang Database) and literature review.Meta-analysis method was used to synthetically and quantitatively analyze the risk factors of recurrent cerebral infarction reported in China.All of the data were analyzed by STATA 11.0 software.Results The total research literature was 216 studies,and 12 studies were enrolled in this study according to the inclusion and exclusion criteria.All case-control study.There were 1599 cases in case group,2566 cases in control group cumulatively.Meta analysis showed that the summary statistics of sex,hypertension,diabetes,hyperlipemia,smoking,age were 1.58 (1.04-2.39),2.66 (2.02-3.51),2.23 (1.70-2.93),2.22(1.48-3.32),1.94 (1.64-2.29),1.58 (0.55-2.60),respectively.There were significances in statistics (Z =2.16,6.95,5.82,3.87,7.68,3.02,respectively,P ＜ 0.05).Conclusion Hypertension,diabetes,hyperlipemia,smoking,male and age are all the risk factors of recurrent cerebral infarction.
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Objection To study the effect of letrozole on EM rat models and influence on the reproductive system. Methods Surgically transplanted autologous uterine tissues to ectopic site beside the uterines in rats were used as animal models to study endometriosis. 20 EM model rats were random divided into letrozole-treated group and saline solution-treated control group. The change of ectopic lesion volume in each group was compared before and after treatment. Apoptotic cells were assessed by the terminal deoxynucleotidyl transferase-mediated deoxy-UTP nick-end labeling (TUNEL) assay, and the uterian horn and ovary were weighted and observed by optical microscopy to study the change of morphology. Results The volumes of the endometriotic tissues of letrozole group reduced more than that in control group[ ( 28. 75 ± 2.28 )mm3 vs ( 108.39 ±9. 98)mm3, P <0.01 ]. The apoptotic rate in letrozole group [ (5.52 ±2. 81 )% ]was higher than control group[ (2.11 ± 1.70)%, P <0. 01 ]. The ovarian weights in letrozole-treated group increased significantly[ (25.25 ± 9. 89) mg/100g vs ( 13. 10 ± 2. 70 ) mg/100g, P < 0. 01 ], arid the ovaries showed polycyst. The uterian weights in letrozole-treated group[ (41.46 ± 15.81 ) mg/100g vs (94. 81 ±18.00) mg/100g, P <0. 05 ] significantly decreased, and the endometriums presented atrophy. Conclusion Letrozole treated EM by means of increasing the apoptosis of the ectopic tissues. Letrozole would give ovarian over stimulating and the uterian weighting decreased as well as endometriums atrophy.