Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients

Abstract:  The risks of developing malignant melanoma (MM) include ultraviolet irradiation and genetic factors. To examine the contribution of rare and common variation within known MM genes in sporadic US MM patients, coding regions of known MM susceptibility genes [cyclin-dependent kinase inhibitor 2A ( CDKN2A ), cyclin-dependent kinase 4, melanocortin 1 receptor ( MC1R ) and tyrosinase ( TYR )] were resequenced in 109–135 MM cases. The significance of variants was examined by comparing their frequencies in 390 cancer-free controls. Potential deleterious mutations in CDKN2A were found in two patients and two others had variants of unknown significance. Cases were more likely than controls to harbour the MC1R 'R' variants known or predicted to alter its function ( P  = 0.002), particularly the R160W variant ( P  = 0.0035). The associated TYR R402Q variant (rs1126809*A) was found in 29% of cases, similar to what has been described previously. One MM patient with a family history of MM, who had developed other skin cancers, was homozygous for a novel TYR variant (P406L) of unknown significance. Hence, rare variants in TYR may be important risk factors for skin cancer.     

SNAP-II predicts mortality among infants with congenital diaphragmatic hernia.

OBJECTIVE: Outcomes analysis in congenital diaphragmatic hernia (CDH) requires a validated risk-adjustment tool. The purpose of this study was to use the Canadian Neonatal Network (CNN) database to validate the Score for Neonatal Acute Physiology, Version II (SNAP-II) for prediction of mortality among CDH infants admitted to a neonatal intensive care unit (NICU), and to compare this to the predictive equation recently developed by the Congenital Diaphragmatic Hernia Study Group (CDHSG). STUDY DESIGN: Infants with CDH in the CNN database were identified. Bivariate and multivariable logistic regression models were used to identify risk factors predictive of mortality. Model predictive performance and calibration were assessed using the area under the receiver operator characteristic curve and the technique of Hosmer-Lemeshow, respectively, and compared with the CDHSG predictive equation. RESULTS: There were 88 patients with CDH among 19,507 admissions to CNN hospitals. The mortality rate among CDH patients surviving to NICU admission was 17%, and 12.5% received extracorporeal membrane oxygenation therapy. Gestational age and admission SNAP-II score predicted mortality. Model predictive performance and calibration were optimized with these variables combined. The CDHSG equation was equally predictive of mortality, but was only marginally calibrated. CONCLUSIONS: SNAP-II is highly predictive of mortality among patients with CDH, and can be used to risk-adjust these patients.     

嵌体与全冠治疗牙间食物嵌塞的临床应用比较

目的:比较嵌体与全冠治疗牙间食物嵌塞的临床操作及修复效果.方法:对纳入标准的78例患者随机分组,分别用嵌体和全冠进行修复并进行随访观察,并对两种方法的临床应用效果进行比较.结果:在对牙龈及牙周保护方面,嵌体与全冠有显著性差异;在边缘密合、重塑邻接关系及牙齿敏感方面,二者无显著性差异.结论:嵌体较全冠修复牙间食物嵌塞临床操作简便省时,更有利于保护牙髓及牙周组织健康,美观经济.     

Delta hepatitis virus infection in China

To assess the prevalence, epidemiological features and prognostic implications of hepatitis D (Delta) in Sichuan Province, The People's Republic of China, 649 sera (515 from HBsAg positive patients and 134 from HBsAg negative subjects) were tested by radioimmunoassay (RIA) for antibody to the hepatitis D virus (anti-HD). Forty-seven sera (7.2%) showed some degree of reactivity. Serial dilutions of these sera indicated that prozoning was not responsible for the equivocal results. Thirty-four of the 47 sera were submitted under code to a second laboratory for independent analysis. According to those results anti-HD antibodies were detected in four of these sera. The overall prevalence of anti-HD in the HBsAg positive patients therefore was 0.8% (4/515). On the basis of clinical, biochemical and histological data 427 HBsAg positive sera were further divided into acute Type B hepatitis, chronic Type B hepatitis, healthy carrier state and hepatocellular carcinoma (HCC) subgroups. Two of 65 (3.1%) anti-HD positive sera belonged to the acute Type B hepatitis group; one of 104 (0.9%), the chronic Type B hepatitis group and one of 246 (0.4%), the healthy carrier group. No antibody was detected in sera from 12 HBsAg positive HCC patients. All HBsAg negative patients were negative for anti-HD antibody. The results of this study indicate that despite a high prevalence of hepatitis B virus infection, positive serology for delta virus is uncommon in Sichuan Province, The People's Republic of China.     

罕见Brugada样心电图图形一例

1临床资料男,28岁,因间断性发冷、寒战、高热4 d入院.患者4 d前无明显诱因出现发冷、寒战,继之高热,体温达40℃,伴恶心、呕吐,无咳嗽、咳痰,无腹痛、腹泻,无尿痛、尿急、尿频等症状.经服退热和抗疟疾药体温有所下降,因疑疟疾"而来我院.既往体健,无输血史.患者曾经在非洲工作2个月6d前归国,同事中有患疟疾"者.家族无类似病史及猝死者.查体:T 39·3℃,P 88次/min,R 22次/min,BP 110/70 mmHg.神清,全身皮肤未见皮疹及出血点,浅表淋巴结不大.心肺未闻异常.腹平软,肝脾肋下未及.实验室检查:血常规WBC 5·59×109/L,N 86·3%,Eo 2%;RBC 4·8…     

对药代动力学实验的两点改进

通过具体的实验数据，讨论在药代动力学实验中如何加入曲线下面积（AUC）的计算，以帮助学生理解并掌握这一概念；在实验室设置不同剂量组，给药后比较剂量与浓度是否呈等比例关系，以此加深学生对于一级动力学消除及其临床意义的理解。     

腰椎后路非融合固定系统的临床应用

复习腰椎后路非融合固定系统的设计原理、临床应用及治疗效果等相关文献,与传统的脊柱融合术相比,应用非融合系统可获得很好的疗效,并可以减少邻近节段退变的发生率。     

大鼠大脑中动脉闭塞后丘脑钙调磷酸酶含量与活性的研究

目的 揭示大脑中动脉闭塞(MCAO)后丘脑钙调磷酸酶(CaN)的时空变化规律，探讨CaN的作用机制。方法 制备大鼠大脑中动脉永久性闭塞模型，分别测定缺血后不同时间点病灶侧丘脑CaN的活性和含量。结果 缺血后24h始丘脑CaN的含量下降且不恢复；CaN的活性在缺血后2h和4h减弱，6h始恢复至正常水平。可见，CaN的活性与含量分离。结论 大脑中动脉闭塞后丘脑CaN活性独特的时间变化规律显示其参与介导继发性丘脑损伤，可能具有毒性作用。     

蜂毒和风痛宁穴位注射治疗骨关节炎468例

目的　探索骨关节炎新的有效治疗途径。方法　运用纯中药制剂蜂毒注射液和风痛宁注射液穴位注射治疗本病 ,并与局封治疗作对照比较。结果　治疗组总有效率为 92 .5 2 % ,对照组为 77.0 0 % ,两组比较有显著差异 (P<0 .0 5 ) ,且两组副作用、复发时间均有显著差异 (P<0 .0 5 )。结论　蜂毒和风痛宁穴位注射治疗本病疗效优于局封治疗 ,且能减少副作用 ,延长复发时间。     

Visual acuity results in school-aged children and adults: Lea Symbols chart versus Bailey-Lovie chart.

PURPOSE: To compare visual acuity results obtained using the Lea Symbols chart with visual acuity results obtained with the Bailey-Lovie chart in school-aged children and adults using a within-subjects comparison of monocular acuity results. METHODS: Subjects were 62 individuals between 4.5 and 60 years of age, recruited from patients seen in five optometry clinics. Each subject had acuity of the right eye and the left eye tested with the Lea Symbols chart and the Bailey-Lovie chart, with order of testing varied across subjects. Outcome measures were monocular logarithm of the minimum angle of resolution (logMAR) visual acuity and inter-eye acuity difference in logMAR units for each test. RESULTS: Correlation between acuity results obtained with the two charts was high. There was no difference in absolute inter-eye acuity difference measured with the two acuity charts. However, on average, Lea Symbols acuity scores were one logMAR line better than Bailey-Lovie acuity scores, and this difference increased with worse visual acuity. CONCLUSIONS: The Lea Symbols chart provides a measure of inter-eye difference that is similar to that obtained with the Bailey-Lovie chart. However, the monocular acuity results obtained with the Lea Symbols chart differ from those obtained with the Bailey-Lovie chart, and the difference is dependent on the individual's absolute level of visual acuity.