Adult ; Ataxin-1 ; Ataxins ; Female ; Humans ; Mutation ; Nerve Tissue Proteins ; genetics ; Nuclear Proteins ; genetics ; Spinocerebellar Ataxias ; genetics ; Trinucleotide Repeats

Objective To explore the possibility of anal preserving after total mesorectal excision combined with stapling technique in radical resection of low rectal cancers. Methods We retrospectively summarized the data of 93 cases of low rectal cancer treated by radical resection and anal preservation, and made specific assessment of post operative rectal sensation and anal function. Results All of the cases were free of cancer invasion of the distal margin of resected bowel.The rate of local recurrence at 2 years after operation was 5.3 %, and 93.5% of patients had good rectal sensation and anal function. Conclusions Anal preserving operation for low rectal cancers using total mesorectal excision combined with stepling technique can improve the postoperative quality of life, and is safe and feasible.

Purpose: Our study aimed to make a propensity score matching (PSM) analysis on the clinical application of gastricjejunum pouch anastomosis (GJPA) and Billroth-II anastomosis after distal gastrectomy. Methods: We collected clinical data from 249 patients who received distal gastrectomy from January 2016 to July 2020. According to the reconstruction method used, all patients were divided into the Billroth-II group and the GJPA group. Clinical data and operation complications were analyzed. Results: The clinical characteristics of the 2 groups were comparable after PSM. In the Billroth-II group, the incidence rate of delayed gastric emptying was higher than that in the GJPA group. Fewer patients suffered reflux gastritis in the GJPA group. The RGB (residue, gastritis, and bile) scores related to the severity of bile reflux into the remnant stomach, gastritis, and residue were higher in the Billroth-II group. Postoperative nutritional status and Visick classification demonstrated that postoperative subjective feelings in the GJPA group were improved significantly. Conclusion The application of GJPA in reconstruction after distal gastrectomy is safe, economical, and reliable. This reconstruction improved the quality of life of patients. It is worth popularizing widely in clinical settings.

Objective To detect the urinary albumin level and urinary albumin/urine creatinine ratio in patients with acute cerebral infarction and explore their relations with NEW-TOAST typing.Methods One hundred and sixty-eight patients with acute cerebral infarction,admitted to our hospital from March 2011 to March 201,were chosen in our study; and other 45 healthy subjects were used as controls; according to NEW-TOAST typing,the patients were divided into different subgroups.Their clinical data were retrospectively analyzed; the 24 hour urinary albumin level and urinary albumin/urine creatinine ratio were detected and their relation was analyzed between patient group and controls,and between patients of different subtypes; besides,the correlation of neurologic impairment (NIHSS) scores with urinary albumin/urine creatinine ratio was analyzed.Results The 24 hour urinary albumin level and urinary albumin/urine creatinine ratio was positively correlated (r=0.301,P=0.001); according to the NEW-TOAST subtypes,patients with large artery atherosclerosis and small artery occlusion had significantly higher level of 24 hour urinary albumin level and urinary albumin/urine creatinine ratio (P＜0.05).NIHSS scores and urinary albumin/creatinine ratio in patient group were positively correlated (r=0.215,P=0.001).Conclusion Acute cerebral infarction and kidney disease are closely correlated;both 24 hour urinary albumin level and urinary albumin/urine creatinine ratio can be the predictor of acute cerebral infarction and influence the prognosis.

To report a case with hereditary spastic paraplegia type 11(SPG11)in association with typical thin corpus callosum(TCC)and"Ears-of-the-lynx sign"on MRI imaging.The patient was a 13-year-old boy.The main symptoms are walking instability and falling easily.Over the period of one year,the symptoms gradually progressed when accompanied by poor handwriting and a decrease in learning ability.The parents are not related.Brain MRI shows a thin corpus callosum,and high symmetric signals in the anterior horn of the lateral ventricles on T2 and Flair sequence.WES detected two heterozygous mutations in the SPG11 gene,NM_025137:c.2073delT and c.257+5G>A,respectively from the parents.The proband was finally diagnosed with SPG11.Brain MRI found that TCC and"lynx ear sign"are highly sensitive and specific for the diagnosis of SPG11.The patients with spastic paraplegia should be considered the possibility of SPG11.

OBJECTIVETo assess the association of CYP2C19 gene polymorphisms with the incidence of ischemic stroke among patients receiving clopidogrel therapy following coronary stenting for coronary artery disease.

METHODSClinical data of patients receiving clopidogrel therapy after coronary stenting were retrospectively studied. For a case-control study, 137 patients with acute cerebral infarction and 122 non-stroke patients were selected. Based on the variants of the CYP2C19 gene detected by a DNA microarray assay, the patients were further divided into the wild-type group(CYP2C19*1/*1) and mutant group(defined by the presence of at least one loss-of-function allele, including CYP2C19*1/*2, CYP2C19*1/*3, CYP2C19*2/*2, CYP2C19*2/*3 and CYP2C19*3/*3). The incidences of ischemic stroke in the two groups were compared through a chi-square analysis. The influence of CYP2C19 gene polymorphisms and clopidogrel therapy on the incidence of ischemic stroke was analyzed through multivariable logistic regression.

RESULTSA total of 259 patients were enrolled. The case and control groups showed no difference in terms of gender and age. There were 123 cases (47.5%) in the CYP2C19 wild-type group and 136 cases (52.5%) in the mutant group. The incidence of ischemic stroke of mutant group was significantly higher than that of wild-type group (59.9% vs. 44.3%, X2=6.398, P=0.042). Multivariate analysis revealed that loss-of-function polymorphisms of the CYP2C19 gene carried a 1.13 times greater risk for ischemic stroke compared to wild-type genotype (OR=2.13, 95%CI: 1.23-3.71).

CONCLUSIONThe efficacy of clopidogrel for the prevention of ischemic stroke in post-coronary stent patients may be reduced by the insufficiency of the CYP2C19 gene. The dosage of clopidogrel therapy should be adjusted based on its polymorphisms.

Brain Ischemia ; prevention & control ; Cytochrome P-450 CYP2C19 ; genetics ; Genotype ; Humans ; Percutaneous Coronary Intervention ; adverse effects ; Platelet Aggregation Inhibitors ; therapeutic use ; Polymorphism, Genetic ; Stents ; adverse effects ; Stroke ; prevention & control ; Ticlopidine ; analogs & derivatives ; therapeutic use

Objective To study the effect of age-related white matter changes (ARWMC) on first symptomatic ischemic stroke events in the oldsters. Methods For the prospective study, a total of 368 eligible oldsters were enrolled in the study from January 2010 to August 2012. The degrees of ARWMC were assessed by ARWMC scale;according to the scores, they were divided into non ARWMC group, mild-moderate ARWMC group and severe ARWMC group. The patients were followed up once every 3 months. The clinical endpoint events and time (first symptomatic ischemic stroke, myocardial infarction and all-cause death) were recorded. Analyses of variance and Chi-square test were used to compare the differences of clinical data among the 3 groups. COX regression was used to assess the risk differences of first symptomatic ischemic stroke in the oldsters of three groups. Results After an average of follow-up for 48.7 months, 50 participants (13.6％) had first symptomatic ischemic stroke;25 (25.8％) were categorized as the severe ARWMC group, 22 (10.9％) were as the mild-medium group, and 3 (4.4％) were as the non ARWMC group. Among the three groups, the differences in age, history of hypertension, systolic blood pressure, incidence of clinical endpoint events and first symptomatic ischemic stroke, and follow-up time of endpoint events were statistically significant (P<0.05); patients from the severe ARWMC group were the oldest, and had the longest history of hypertension, the highest systolic blood pressure, the highest incidence of clinical end events and first symptomatic ischemic stroke, and the shortest follow-up period for clinical end events. COX regression analysis showed that the risk of first symptomatic ischemic stroke in the severe ARWMC group was about 8 times higher than that in the non ARWMC group (hazard ratio=9.012, 95％CI: 2.310-35.154, P=0.002). Conclusion In oldsters, severe ARWMC often accompany hypertension history and poor blood pressure controll, and it is an independent and serious risk factor for long-term first symptomatic ischemic stroke.