不明原因智力障碍/脑发育迟缓患儿染色体亚端粒重组突变的检测

目的联合应用多重连接依赖的探针扩增法和荧光原位杂交法检测染色体亚端粒重组,进行不明原因智力障碍／脑发育迟缓（mental retardation／developmental delay,MR／DD）的病因学研究。方法人选病例必须满足：①中一重度MR／DD;②无明确围产期异常病史;③无明确生后中毒、缺氧、中枢神经系统感染及头颅外伤等病史;④常规核型分析显示正常;⑤头颅影像及尿有机酸、氨基酸分析未提示典型遗传代谢性疾病或神经变性病;⑥男性患儿FMR1基因检测未提示脆性X综合征。并至少符合以下条件之一：①MR家族史阳性;②反复流产或围产期死亡家族史阳性;③体格发育异常;④面部畸形;⑤非面部畸形或发育异常。联合应用多重连接依赖的探针扩增法过筛和荧光原位杂交技术验证对患儿及父母标本进行染色体亚端粒重组检测。结果人组39例中发现4例阳性病例,重组分别为：①新发der（2）t（2;4）（pter;pter）,文献未见报道;②新发8pter缺失,国外曾有报道,但临床表型不同;③新发15q11．2缺失,属中间重组,结合患儿临床表型,Angelman综合征可能性大;④新发11qter缺失,文献未见报道。结论首次报道2种新重组,其新发出现提示致病性可能性大;染色体亚端粒重组是遗传性MR／DD的重要病因,临床表型差异大,对原因不明的常规染色体检查无异常的MR／DD患者均应进行检测,联合应用多重连接依赖的探针扩增法和荧光原位杂交法是相对经济的确诊手段。     

Resistin induces insulin resistance, but does not affect glucose output in rat-derived hepatocytes

AIM: The aim of the present study was to observe the effects of resistin on insulin sensitivity and glucose output in rat-derived hepatocytes. METHODS: The rat hepatoma cell line H4IIE was cultured and stimulated with resistin; supernant glucose and glycogen content were detected. The insulin receptor substrate (IRS)-1 and IRS-2, protein kinase B/Akt, glycogen synthase kinase-3beta(GSK-3 beta), the suppressor of cytokine signaling 3 (SOCS-3) protein content, as well as the phosphorylation status were assessed by Western blotting. Specific antisense oligodeoxynucleotides directed against SOCS-3 were used to knockdown SOCS-3. RESULTS: Resistin induced insulin resistance, but did not affect glucose output in rat hepatoma cell line H4IIE. Resistin attenuated multiple effects of insulin, including insulin-stimulated glycogen synthesis and phosphorylation of IRS, protein kinase B/Akt, as well as GSK-3beta. Resistin treatment markedly induced the gene and protein expression of SOCS-3, a known inhibitor of insulin signaling. Furthermore, a specific antisense oligodeoxynucleotide directed against SOCS-3 treatment prevented resistin from antagonizing insulin action. CONCLUSION: The major function of resistin on liver is to induce insulin resistance. SOCS-3 induction may contribute to the resistin-mediated inhibition of insulin signaling in H4IIE hepatocytes.     

替吉奥单药治疗老年晚期乳腺癌的临床疗效与安全性

目的 观察替吉奥单药治疗老年晚期乳腺癌的疗效与安全性。方法 回顾性分析老年晚期乳腺癌患者65例,研究组32例(S组)：替吉奥 40～60 mg(＜1.25 m²,40 mg; 1.25～1．5 m²,50 mg;＞1.5 m²,60 mg),于早、晚饭后口服,连服14天,21天重复。对照组33例（X组）：卡培他滨每日2000 mg/m²,分2次,连服14天,21天重复,至少2周期后评价疗效。结果 65例患者均可评价疗效, S组、X组有效率（RR）分别为31.3％(10/32)、27.3％(9/33),疾病控制率（DCR）分别为78.1％（25/32）、69.7％(23/33）,中位疾病进展时间（TTP）分别为7.5、7.0月,中位总生存时间（OS）分别为17.3、15.2月,两组比较差异无统计学意义（P＞0.05）。研究组与对照组常见的不良反应为骨髓抑制、胃肠道反应、口角炎、乏力,多见Ⅰ～Ⅱ度,可耐受,两组差异无统计学意义;对照组手足综合征明显高于研究组,差异有统计学意义（P=0.000）。 结论 替吉奥单药治疗老年乳腺癌疗效肯定,耐受性好于卡培他滨,值得临床进一步研究、推广。     

胰酶水解干酪素的动力学行为

研究了胰酶水解干酪素制备蛋白胨过程中胰酶在不同温度下的失活行为,以及底物浓度对反应速率和平衡的影响,ｐＨ对反应浓度和平衡的影响。胰酶在４０℃下４ｈ基本不丧失水解大分子的活力;在５０℃,ｍｉｎ、５５℃,１００ｍｉｎ、６０℃,９０ｍｉｎ完全丧失对大分子的水解活性。胰酶短时间在高温下丧失的活性,当其返回到４０℃时可部分恢复。底物和产物对反应有抑制作用。底物初始浓度高,最终平衡转化率低。当ｐＨ８时的反应速     

志愿者预防艾滋病同伴教育活动在大学生中的干预效果

目的 对志愿者在大学生中预防艾滋病活动进行干预效果评价.方法 以河北大学2014、2015级预防医学与卫生事业管理系学生为干预组,以河北大学2014、2015级临床医学院学生为对照组.在干预组中通过培训志愿者,采用同伴教育的方式进行干预.并通过干预组和对照组干预前后的比较,对干预效果进行评价.结果 干预组在接受同伴教育前后,艾滋病一般知识知晓率分别为2953%和4137%,艾滋病非传播途径知晓率分别为4352%和5612%,艾滋病预防知识知晓率分别为4663%和6547%,以及艾滋病正确态度持有率分别为3731%和4712%,均有所提高.安全套使用率不足60%,且在干预前后无显著变化.结论 在大学生中依托志愿者开展同伴教育的方法收到了较好的干预效果,但艾滋病相关行为的改善并不理想,还需在今后预防艾滋病的工作中继续探索与重点干预.     

神经内镜手术对幕上高血压性脑出血患者的疗效分析：一项单中心、回顾性、对照研究

目的：探讨神经内镜手术治疗幕上高血压性脑出血的效果。方法 ：回顾性选取2022年1月至2022 年12月我中心收治的42例幕上高血压性脑出血手术患者,以治疗方式分为神经内镜组和开颅手术组。神经内镜组患者采用神经内镜手术治疗,共22例;开颅手术组患者采用传统开颅手术,共20例。对比两组患者术后残余血肿量、术后3月mRS评分、死亡率及并发症率。结果：神经内镜组的术后残余血肿量小于15ml的患者比率77.3%（17/22）高于开颅手术组35.0%（7/20）,差异有统计学意义（P=0.022）;神经内镜组和开颅手术组的患者中,术后3个月预后良好的患者分别为14例（63.6%）和4例（20.0%）,差异有统计学意义（P<0.001）;开颅手术组中,1名（5.0%）患者发生了术后再出血,而神经内镜组中,1名（4.5%）患者发生了术后再出血,差异有统计学意义（P=0.001）;两组手术患者的肺部感染发生率均为100%,差异无统计学意义（P=1.000）;神经内镜组的术后死亡率13.6%（3/22）也低于开颅手术组30.0%（6/20）,差异有统计学意义（P<0.001）。结论：神经内镜手术治疗可提高幕上高血压性脑出血患者的血肿清除率,降低并发症发生率及死亡率,改善患者预后。     

基于JAK2-STAT3信号通路探讨硫酸羟氯喹治疗佐剂性类风湿性关节炎大鼠的作用机制

目的 观察硫酸羟氯喹对胶原诱导性关节炎大鼠(CIA)的治疗作用及其可能的作用机制.方法 24只SPF级SD大鼠,随机分为对照组、模型组及硫酸羟氯喹组,每组8只.给药前(0 d)和给药10、20及30 d后进行关节炎指数评分;HE染色观察各组大鼠膝关节滑膜病理损伤;ELISA检测大鼠血清中IL-1β、TNF-α及IL-6...     

宫颈癌中医分期辨治研究进展

运用中医学理论,结合现代医学,从中医分期辨证的角度出发,对宫颈癌前病变期、围手术期、放化疗期3个阶段进行概述.根据宫颈癌形成、发展的不同时期,治疗上第一阶段应侧重祛邪为主,佐以补虚;第二阶段应补虚与祛邪并重,同时注重术后并发症的预防与治疗;第三阶段着重扶助正气,兼顾他症.倡导中医药使用不同的治法进行分期论治,提高人们对...     

Prevalence and related factors of hyperuricaemia in Chinese children and adolescents: a pooled analysis of 11 population-based studies

Background and aimsHyperuricaemia can lead to gout and is associated with an increased risk of cardiometabolic disease. We aimed to investigate the prevalence of hyperuricaemia and its related factors in Chinese children and adolescents.MethodsWe pooled data from 11 population-based studies comprising 54,580 participants aged 3–19 years. The sex- and age-standardized prevalence of hyperuricaemia was estimated overall and by sex, age, weight status, geographic region and survey year.ResultsSerum uric acid (SUA) increased gradually from 3 to 11 years with no significant sex difference, and then increased dramatically during 11–15 years. The estimated overall prevalence of hyperuricaemia was 23.3% (26.6% in boys and 19.8% in girls, p < .001). The prevalence increased with growing age (3.7, 9.8, 15.8, 35.5 and 31.7% among children aged 3–5, 6–8, 9–11, 12–15 and 16–19 years, respectively, p for trend < .001) and with increasing weight status (18.2, 37.6, 50.6 and 64.5% among children with non-overweight, overweight, obesity and extreme obesity, respectively, p for trend < .001). The prevalence was higher in North than in South (24.2 vs. 19.7%, p < .001), and increased markedly from 16.7% during 2009–2015 to 24.8% during 2016–2019. In multivariable regression analyses, sex, age, obesity, region and survey year were independently associated with odds of hyperuricaemia.ConclusionsThe prevalence of hyperuricaemia in Chinese children and adolescents is unexpectedly high. The findings suggest an urgent need to implement effective interventions to reduce risk of hyperuricaemia in Chinese youths.

KEY MESSAGES

• Question: What is the prevalence of hyperuricaemia in Chinese children and adolescents?
• Findings: In this large pooled cross-sectional study comprising >50,000 children and adolescents aged 3–19 years, we found that the prevalence of hyperuricaemia was high in overall population and subgroups of sex, age, obesity, region and survey year.
• Meaning: Our findings indicate that hyperuricaemia is an important health problem in Chinese children and adolescents, and effective intervention strategies are needed to reduce its burden.

     

Insight into the Epidemiology and Evolutionary History of Novel Goose Astrovirus-Associated Gout in Goslings in Southern China

A novel gout disease, characterized by visceral urate deposition with high-mortality, with outbreaks in goslings in China since 2016 was caused by a novel goose astrovirus (GoAstV) and resulted in serious economic loss. However, the epidemiology and variation of the GoAstV in goslings in southern China and its evolutionary history as well as the classification of the GoAstV are unclear. In the present study, systematic molecular epidemiology, and phylogenetic analyses of the GoAstV were conducted to address these issues. Our results showed that the GoAstV is widespread in goslings in southern China, and the genomes of six GoAstV strains were obtained. Two amino acid mutations (Y36H and E456D) were identified in capsid proteins in this study, which is the dominant antigen for the GoAstV. In addition, the GoAstV could be divided into two distinct clades, GoAstV-1 and GoAstV-2, and GoAstV-2 is responsible for gout outbreaks in goslings and could be classified into Avastrovirus 3 (AAstV-3), while GoAstV-1 belongs to Avastrovirus 1 (AAstV-1). Moreover, the emergence of GoAstV-2 in geese was estimated to have occurred in January 2010, approximately 12 years ago, while GoAstV-1 emerged earlier than GoAstV-2 and was estimated to have emerged in April 1985 based on Bayesian analysis. The mean evolutionary rate for the GoAstV was also calculated to be approximately 1.42 × 10⁻³ nucleotide substitutions per site per year. In conclusion, this study provides insight into the epidemiology of the GoAstV in goslings in southern China and is helpful for understanding the origin and evolutionary history as well as the classification of the GoAstV in geese.