Ischemic stroke is a catastrophic event in young adults. It may cause death,disability, incapacity and decline in the quality of life. When the neurologists are facing the suspected ischemic stroke in young adults, the greatest challenge of diagnosis is to identify the causes. This article reviews the risk factors, etiological diagnosis as well as its associated disorders and dysfunction in young adults.

Objective To identify the specific genotype and analyze clinical features of spinocerebellar ataxias (SCAs) pedigree in the region of Yunnan Province.Methods Fourteen SCAs pedigrees and 183 blood samples of the family members were collected between January 2011 and July 2014 from Department of Neurology,First Affiliated Hospital of Kunming Medical College.Polymerase chain reaction (PCR) amplification,agarose gel electrophoresis and DNA sequencing technologies were utilized to identify the specific genotype of SCAs pedigree.Presymptomatic tests were carried out and the clinical features and genetic test results of patients were carefully analyzed.Results SCA3 was the most common subtype of SCAs in the Han nationality of Yunnan region.Nine of the 14 families were SCA3,only one family was SCA2.Additionally,there were four SCAs families that remained indeterminate.The patients with di-allele mutations (46/77) of SCA3 gene had early onset,rapid progression and serious clinical symptoms.Hereditary SCA3 and autonomic dominant polycystic kidney disease can happen simultaneously in a family.The proband SCA3 gene' s CAG repeat number is 28/76,and repetitions of the mutation allele are in all range.The PKD1 gene exon 23 is found to be in abnormal sequence.Conclusions SCA3 is the most common subtype of SCAs in the Han population of Yunnan region.There are 15/46 incomplete penetrance nutation and 46/77 di-allele mutations.It is possible that di-allele mutations make the disease worse and accelerate clinical course progression.SCA3 and polycystic kidney disease can uncommonly happen simultaneously in a family,which perhaps suggests there are interactions between the two disease-virulence genes.

Ataxins ; Humans ; Male ; Middle Aged ; Nerve Tissue Proteins ; genetics ; Spinocerebellar Ataxias ; genetics ; Trinucleotide Repeats

Aim To investigate the effects of high glu-cose on cholesterol metabolism in renal tubular cells and the intervention of the anthocyanins. Methods HK-2 cells were grown in the DMEM medium supple-mented with 10% FBS and were divided into 5 groups:normal glucose group, high glucose group, mannitol group, C3G group and Cy group. Effect of anthocya-nins on cell viability was detected with MTT, and cho-lesterol accumulation was detected with Amplex Red Cholesterol Assay kit and Filipin staining. Expression of ABCA1 was detected with RT-qPCR and Western Blot. Results In compared with control groups, HG significantly promoted cholesterol mass inside the cell and decreased the cholesterol concentration in the me-dium after treatment for 24 h or 48 h. The levels of mRNA and protein of ABCA1 were detected with RT-qPCR and Western blot, and both were decreased in the presence of HG. Whereas treatment with C3G and Cy markedly attenuated HG-induced cholesterol mass inside the cell by up-regulating the expression of AB-CA1. Conclusions High glucose can reduce the ex-pressions of the ABCA1, and then decrease cholesterol efflux and increase the cholesterol accumulation in HK-2 cells. Anthocyanins can decrease cholesterol accu-mulation by up-regulating the expression of ABCA1.

Objective To investigate the analgesic effect of perioperatively intravenous Parecoxib for pain management after laparoscopic surgery of colorectal cancer,and whether it can reduce opioid requirements and opioid-related adverse effects.Methods 116 patients ungergoing laparoscopic colorectal resection were randomized to receive either intravenous parecoxib at a dose of 40 mg 15 minutes before induction of anesthesia followed by 40 mg every 12 hous for 72 hours (Parecoxib Group,n =59) or without the use of Parecoxib (control group,n =57).All patients had access to patient controlled analgesia (PCA) with Sufentanil within 48 hours after the operation.Patients were assessed with respect to Visual Analog Scale (VAS) from 0-10,and supplementary opiates were provided when VAS was above 4.Results Compared with control group,Parecoxib group had lower VAS scores at rest,while coughing and mobilization at each time point after the operation (P ＜ 0.05).There was no significant difference in the incidence of adverse reactions between the two groups (P ＞ 0.05).The postoperative hospital stay was less in Parecoxib group (P ＜0.05),and Parecoxib group consumed less opium on post-op day 1 [0 mg(0,7.5) vs.10 mg(7.5,15),Z=2 364,P =0.000],and less total opium consumption in 5 days after surgery [20 mg (10,25) vs.42.5 mg (37.5,45),Z =1 770,P =0.000].Conclusions The use of Parecoxib with PCA Sufentanil in postoperative analgesia resulted in comprehensive enhancement of the analgesic efficacy,reducing the opioid requirement,promoting postoperative recovery and shortening hospital stay.

Objective To explore the serum levels of VILIP-1 and Cav-1 in cases with severe craniocerebral injury undergoing decompression and their effects on the prognosis.Methods 108 patients with severe craniocerebral injury who were treated in our hospital from July 2019 to July 2022 were selected as the study group,and 120 healthy people who came to our hospital for physical examination were selected as the health group.All cases were followed up for 6 months,and were divided into good prognosis group(GOS=4-5 points,n=82)and poor prognosis group(GOS=1-3 points,n=26)according to GOS.The levels of serum VILIP-1 and Cav-1 were detected by ELISA.The diagnostic value of serum VILIP-1 and Cav-1 on the prognosis of patients was evaluated by the ROC curve.Multivariate logistic regression analysis was used to explore the prognostic factors of patients.Results The levels of serum VILIP-1 and Cav-1 in study group were higher than those in healthy group(P＜0.05).The levels of serum VILIP-1 and Cav-1 in case with poor prognosis were higher than those in cases with good prognosis(P＜0.05).The AUC(95％CI)of serum VILIP-1 and Cav-1 to predict the prognosis of patients was 0.848(0.797～0.899)and 0.817(0.766～0.868).The AUC(95％CI)of the combined detection was 0.905(0.854～0.956).The time from injury to admission,admission GCS score,history of diabetes,admission pupillary reaction,preoperative brain midline displacement and postoperative complications in good prognosis group were different from those in poor prognosis group(P＜0.05).Preoperative midline displacement≥5 mm(OR=2.467,95％CI:1.619～3.760),postoperative complications≥ 2(OR=2.321,95％CI:1.544～3.489),VILIP-1≥10.37 ng/ml(OR=3.367,95％CI:2.087～5.432),and Cav-1≥32.28 μg/L(OR=2.770,95％CI:1.786～4.298)were risk factors for prognosis in patients(P＜0.05).Conclusion Serum VILIP-1 and Cav-1 can be used as biological indicators to predict the prognosis of patients with severe brain injury after decompression,and the increase of serum VILIP-1 and Cav-1 levels are risk factors for prognosis.

OBJECTIVETo investigate clinical features and genetic mutations of a family affected with spinocerebellar ataxia 3 and polycystic kidney disease.

METHODSPolymerase chain reaction and DNA sequencing were employed to analyze exon 10 of the SCA3 gene, in addition with all exons and flanking sequences of PKD1 and PKD2 genes. The clinical features were also carefully analyzed.

RESULTSThe numbers of CAG repeat in the proband's SCA3 gene were 28/76, with the number of repeats in the mutant allele being in the full range. The sequence of exon 23 of the PKD1 gene was also found to be abnormal. Clinical symptoms of the proband were very serious, which were characterized by obvious ataxia, pyramidal signs, Meige syndrome, depression and high blood pressure.

CONCLUSIONHereditary spinocerebellar ataxia 3 and autonomic dominant polycystic kidney disease may co-occur, and genetic testing is the primary means of diagnosis.

Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Polycystic Kidney Diseases ; genetics ; Polymerase Chain Reaction ; Sequence Analysis, DNA ; Spinocerebellar Ataxias ; genetics

A corresponding calibration method was proposed for the key performance parameters of the endoscopic liquid expansion pump,such as the pressure indication error,the flow rate indication error and the flow rate repeatability.4 different brands of endoscopic liquid expansion pumps in clinical use in the hospital were selected for calibration,and the feasibility of the calibration method was evaluated.In the pressure and flow range of the endoscope liquid expansion pump,3 calibration points of high,medium and low were selected,and each flow point was calibrated 3 times.The calibration results showed that the maximum error of pressure indication was 4.3%,the maximum error of flow indication was 9.3%,and the maximum repeatability of flow indication value was 0.8%,all of which met the technical requirements for the maximum allowable error of"Medical Endoscopes.Endoscope Functional Supply Units.Irrigation Pump"(YY/T 0864-2011)and"Calibration Specification for Syringe Pumps and Infusion Pumps"(JJF 1259-2018).The calibration method for endoscopic liquid expansion pump can improve the metrological traceability system of this type of equipment,ensure the accuracy and reliability of equipment values,improve product quality,and ensure medical safety.

Objective:To investigate the safety and feasibility of the CHESS endoscpic ruler (CHESS ruler), and the consistency between the measured values and the interpretation values by endoscopic physician experience.Methods:From January 2021 to January 2022, a total of 105 liver cirrhosis patients with portal hypertension were prospectively enrolled from General Hospital, Xixia Branch Hospital, Ningnan Hospital of People′s Hospital of Ningxia Hui Autonomous Region (29 cases), and the First People′s Hospital of Yinchuan (25 cases), General Hospital of Ningxia Medical University (18 cases), Wuzhong People′s Hospital (10 cases), the Fifth People′s Hospital of Ningxia Hui Autonomous Region (10 cases), Shizuishan Second People′s Hospital (6 cases), Yinchuan Second People′s Hospital (5 cases), and Zhongwei People′s Hospital (2 cases) 8 hospitals. The clinical characteristics of all the patients, including gender, age, nationality, etiolog of liver cirrhosis, and Child-Pugh classification of liver function were recorded. A big gastroesophageal varices was defined as diameter of varices ≥5 mm. Endoscopist (associated chief physician) performed gastroscopy according to the routine gastroscopy procedures, and the diameter of the biggest esophageal varices was measured by experience and images were collected, and then objective measurement was with the CHESS ruler and images were collected. The diameter of esophageal varices of 10 randomly selected patients (random number table method) was determined by 6 endoscopists (attending physician or associated chief physician) with experience or measured by CHESS ruler. Kappa test was used to test the consistency in the diameter of esophageal varices between measured values by CHESS ruler and the interpretation values by endoscopic physician experience.Results:Among 105 liver cirrhosis patients with portal hypertension, male 65 cases and female 40 cases, aged (54.8±12.2) years old, Han nationality 82 cases, Hui nationality 21 cases and Mongolian nationality 2 cases. The etiology of liver cirrhosis included chronic hepatitis B (79 cases), alcoholic liver disease (7 cases), autoimmune hepatitis (7 cases), chronic hepatitis C (2 cases), and other etiology (10 cases). Liver function of 32 cases was Child-Pugh A, Child-Pugh B 57 cases, and Child-Pugh C 16 cases. All 105 liver cirrhosis patients with cirrhotic portal hypertension were successfully measured the diameter of gastroesophageal varices by CHESS ruler, and the success rate of application of CHESS ruler was 100.0% (105/105). The procedure time from the CHESS ruler into the body to the exit of the body after measurement was (3.50±2.55) min. No complications happened in all the patients during measurement. Among 105 liver cirrhosis patients with cirrhotic portal hypertension, 96 cases (91.4%) were recognized as big gastroesophageal varices by the endoscopists. Totally 93 cases (88.6%) were considered as big gastroesophageal varices by CHESS ruler. Eight cases were recognized as big gastroesophageal varices by the endoscopist, however not by the CHESS ruler; 5 cases were recognized as big gastroesophageal varices by the CHESS ruler, but not by the endoscopists; 4 cases were not recognized as big gastroesophageal varices both by the endoscopists and CHESS ruler; 88 cases were recognized as big gastroesophageal varices both by the endoscopists and CHESS ruler. The missed diagnostic rate of big gastroesophageal varices by the endoscopists experience was 5.4% (5/93), and the Kappa value of consistency coefficient between the measurement by the CHESS ruler and the interpretation by endoscopists experience was 0.31 (95% confidence interval 0.03 to 0.60). The overall Kappa value of consistency coefficient by 6 endoscopists measured by CHESS ruler in big gastroesophageal varices diagnosis was 0.77 (95% confidence interval 0.61 to 0.93).Conclusion:As an objective measurement tool, CHESS ruler can make up for the deficiency of subjective judgment by endoscopists, accurately measure the diameter of gastroesophageal varices, and is highly feasible and safe.

【Objective】 To confirm whether the preoperative fibrinogen to pre-albumin ratio (FPR) is a prognostic factor for patients with gastric adenocarcinoma and to analyze the relationship between FPR and clinicopathological characteristics of gastric adenocarcinoma patients. 【Methods】 We retrospectively reviewed the clinical data of 404 patients with gastric cancer who received radical gastrectomy in the Department of General Surgery, The First Affiliated Hospital of Xi’an Jiaotong University, from January 2012 to December 2016. We analyzed the preoperative FPR’s effects on the prognosis of patients with gastric cancer and the relationship between FPR and the clinicopathological variables. 【Results】 The optimal cut-off point of FPR obtained by ROC curve analysis was 15.0, and gastric cancer patients were divided into low FPR group (<15.0) and high FPR group (≥15.0). The univariate Cox regression analysis showed that age, preoperative anemia, tumor size, histological grade, TNM stage, and preoperative FPR were risk factors for the prognosis of gastric cancer (P<0.05). The multivariate Cox regression analysis showed that TNM stage and preoperative FPR were independent prognostic factors for gastric cancer (P<0.05). The subgroup analysis results indicated that the prognosis of patients in the low FPR group was better than that in the high FPR group of patients with stage Ⅰ-Ⅱ and stage Ⅲ gastric cancer (P<0.05). Further analysis showed that compared with those in the high FPR group, patients in the low FPR group had an older age, a larger proportion of males, a lower rate of anemia before surgery, smaller tumor diameter, and earlier TNM staging (P<0.05). 【Conclusion】 The preoperative FPR is an independent prognostic factor for gastric cancer. This study provides a clinical basis for its application in predicting the long-term prognosis of patients with gastric cancer.