先天性唇腭裂病400例病因探讨

目的：探讨先天性唇腭裂病的病因,寻找预防办法。方法：对先天性400例唇腭裂手术患者的父母在怀孕前后居住生活、饮食卫生、嗜好、心情精神状态及患病情况做统计分析。结果：400例患者父母怀孕前后居住面积在30m^2以下占75％,饮酒吸烟者人数627人中78．3％,女性饮酒167人占41．07％。患普通感冒730人。怀孕在1月内患感冒283人,心情不愉快精神毋张受到不良刺激362人。结论：通过对400例患者父母怀孕前后生活居住患病嗜好精神等因素情况得出结论与外界环境关系密切,尤其怀孕早期患病饮酒吸烟心情不愉快对该病发生起一定作用,但该病是多种原因综合因素所致的一种先天性疾病,具有一定遗传性,但也有可以预防的一方面,在谊病发生的过程中有一个主要因素起主导作用,有待今后继续研讨。     

2型糖尿病家族史对患者及其同胞患病影响的分析

目的:分析明确的2型糖尿病家族史对患者及其同胞患病的影响方法:收集我院内分泌门诊4年来就诊的具有明确糖尿病家族史的2型糖尿病患者143例,对患者的父母、同胞进行糖尿病患病情况调查,并对调查结果进行统计学分析。结果:(1)在143例糖尿病患者中,来自糖尿病母亲家族史的占55.6%,来自糖尿病父亲家族史的占31.0%,两者有显著差异(P<0.01)(2)具有糖尿病家族史的同胞兄弟姐妹中,二人或多人患病的比例高达52.4%。结论:(1)来自糖尿病母亲的家族史对子代糖尿病患病的影响超过父亲(2)2型糖尿病具有明显的家族聚集性     

慢性非传染性疾病的预防与控制方法

目的探析慢性非传染性疾病的预防及控制方法。方法以我院在2014年1月-2015年12月抽取的500例社区居民,作为研究对象,并建立健康档案,对其均进行慢性非传染性疾病的预防干预,并提出控制方法,并选择另外500例居民没有接受慢性非传染性疾病的预防及控制方法,比较干预前后本组居民的预防结果。结果干预前,吸烟38.0%,饮酒40.4%,不良饮食习惯46.6%,慢性非传染性疾病35.0%;干预后,吸烟8.4%,饮酒8.6%,不良饮食习惯10.2%,慢性非传染性疾病13.4%;干预后本组患者在患病率及危险因素上均优于干预前,差异具有统计学意义(P0.05)。结论医务工作人员应高度重视慢性非传染性疾病的预防及控制工作,进而保证居民的健康、合理的生活,提高生活质量。     

太原市杏花岭区白癜风患者临床流行病学调查及患病影响因素的Logistic回归分析

摘要 目的：调查太原市杏花岭区白癜风患者临床流行病学情况,并分析患病影响因素。方法：于2020年6月至2021年6月采用多阶段分层随机抽样的方法,抽取太原市杏花岭区辖10个街道符合条件的常住居民进行调查,共抽取1440例,实际完成调查研究1428例,应答率为99.17%。采用我院自行设计的问卷调查表收集资料。根据是否患有白癜风将研究对象分为白癜风组（n=31）和无白癜风组（n=1397）。采用单因素和多因素Logistic回归分析太原市杏花岭区白癜风患者患病影响因素。结果：纳入的1428例居民中,共诊断出31例患有白癜风,患病率为2.17%。31例白癜风患者中,男性占比高于女性,占54.84%;年龄21~40岁区间患病率最高,占29.04%;未婚的白癜风患者偏多,占45.17%;文化程度为初高中的白癜风发生率偏高,占41.94%;职业为学生的白癜风发生率偏高,占32.27%。单因素分析显示：太原市杏花岭区白癜风的患病与白癜风家族史、精神因素、暴晒史、饮酒史、吸烟史、经常接触化学物质、饮食规律、蔬果摄入量、饮食合理、皮肤病史有关（P<0.05）。多因素Logistic回归分析显示：饮酒史、白癜风家族史、皮肤病史、经常接触化学物质、暴晒史、精神因素是白癜风发病的潜在独立危险因素,而饮食合理、蔬果摄入量大、饮食规律则是其保护因素（P<0.05）。结论：太原市杏花岭区白癜风发生率较高,饮酒史、白癜风家族史、皮肤病史、经常接触化学物质、暴晒史、精神因素是白癜风发病的潜在独立危险因素,而饮食合理、蔬果摄入量大、饮食规律则是其保护因素。     

200例先天性尿道下裂患儿的临床特征及其危险因素分析

目的:研究200例先天性尿道下裂患儿的临床特征及其危险因素。方法:选择2016年1月~2019年12月我院收治的先天性尿道下裂患儿200例进行研究,记作观察组,另取同期于我院接受体检的健康儿童200例作为对照组,分析观察组患儿的临床分型情况,比较两组儿童父母的一般情况、儿童出生情况,并采用多因素Logistic回归分析先天性尿道下裂的影响因素。结果:200例先天性尿道下裂患儿临床分型按照占比从高到低的顺序依次为阴茎体型46.50%(93/200)、阴茎阴囊型28.00%(56/200)、冠状沟型17.00%(34/200)、阴囊型4.50%(9/200)、阴茎头型3.00%(6/200)、会阴型1.00%(2/200)。观察组父亲生活性接触化学物、母亲流产史、母亲孕期饮食缺乏肉类、母亲孕期饮食缺乏鱼类、母亲孕期应用保胎药、母亲孕期吸烟或被动吸烟人数占比均高于对照组(均P<0.05)。观察组早产、低出生体重人数占比高于对照组(均P<0.05)。经多因素Logistic回归分析显示,父亲生活性接触化学物、母亲流产史、母亲孕期饮食缺乏肉类、母亲孕期饮食缺乏鱼类、母亲孕期应用保胎药、母亲孕期吸烟或被动吸烟、早产、低出生体重均是先天性尿道下裂的危险因素(均P<0.05)。结论:先天性尿道下裂患儿临床分型以阴茎体型为主,双亲不良生活习惯、化学物接触史以及早产、低出生体重均是先天性尿道下裂的危险因素,值得临床重点关注。     

40～60岁饮酒史男性慢性萎缩性胃炎患病率和幽门螺杆菌感染率及肠道菌群分析

目的 分析40～60岁饮酒史男性慢性萎缩性胃炎（CAG）患病率、幽门螺杆菌（H. pylori）感染率及肠道菌群，为该类患者的治疗提供参考。方法 采取整群抽样方法选取2020年2月至2022年2月于我院行胃镜检查的1 500例体检者，统计CAG患病率，根据CAG患病情况分为CAG组（n=428）和无CAG组（n=1 072），分析两组对象临床资料（性别、年龄、饮酒史等），观察其中40～60岁饮酒史男性患者CAG患病率、 H. pylori感染情况及肠道菌群，并通过多因素Logistic回归分析CAG的相关影响因素。结果CAG组患者性别、年龄、饮酒史、 H. pylori感染情况与无CAG组对比差异均有统计学意义（均P<0.05）。多因素Logistic回归分析显示，年龄40～60岁、男性、有饮酒史及H. pylori阳性均为影响CAG患病的独立危险因素（均P<0.05）。40～60岁饮酒史男性CAG患病率为68.68%(296/431)，其中伴有肠上皮化生者103例（34.80%），伴有活动性炎症者83例（28.04%），伴有不典型增生者45例（15.20%）,H. pyl...     

食管癌三维适形放疗前后肺功能、生活质量的变化及放射性肺炎的影响因素分析

目的:探讨食管癌三维适形放疗前后肺功能、生活质量的变化及放射性肺炎的影响因素。方法:收集2017年11月~2019年11月在我院进行三维适形放疗的食管癌患者102例,对患者放疗前后的肺功能进行检测对比,并采用生活质量评价简表(QLQ-C30)对患者放疗前后的生活质量进行评估对比。统计患者放疗后放射性肺炎的发生率,根据患者放疗后是否发生放射性肺炎将患者分为放射性肺炎组和非放射性肺炎组,对两组患者的临床资料进行对比分析,采用单因素和多因素Logistic回归分析影响食管癌三维适形放疗后放射性肺炎发生的影响因素。结果:放疗前后患者肺活量(VC)占预计值的百分比、用力肺活量(FVC)占预计值的百分比、第一秒用力呼气容积(FEV1)占预计值的百分比、最大通气量(MVV)占预计值的百分比对比无统计学差异(P>0.05),放疗后患者一氧化碳弥散量(DLCO)占预计值的百分比低于放疗前(P<0.05)。放疗后患者的QLQ-C30各项评分均低于放疗前(P<0.05)。102例患者中放疗后出现放射性肺炎33例,发生率为32.35%。经单因素分析显示,两组患者在性别、体质量指数(BMI)、吸烟史、饮酒史、肿瘤大小、病理类型、肿瘤位置、合并化疗方面比较差异无统计学意义(P>0.05),而在年龄、合并肺基础疾病、全肺接受20Gy的体积(V20)、全肺照射平均剂量(MLD)方面比较差异有统计学意义(P<0.05)。经多因素Logistic回归分析显示,年龄≥60岁、合并肺基础疾病、V20≥30%、MLD≥1200cGy是食管癌三维适形放疗后出现放射性肺炎的危险因素(OR=1.309、1.193、1.416、1.309,P<0.05)。结论:食管癌三维适形放疗会对患者的肺部弥散功能、生活质量产生负面影响。部分患者放疗后会出现放射性肺炎,其主要受年龄、肺基础疾病、V20、MLD的影响。     

2015-2016年宿州市肾结石患病现况调查及危险因素分析

摘要 目的：分析2015-2016年安徽省宿州市肾结石患病情况,并分析该地区肾结石患病的危险因素,为肾结石的防治提供依据。方法：选择2015年1月~2016年12月间于我院就诊的肾结石患者110例作为研究组,选择同期本院体检的健康志愿者110例作为对照组。调查两组基本信息、临床资料、饮食习惯等,并应用单因素和多因素Logistic回归分析分析肾结石患病的危险因素。结果：108名肾结石患者年龄18~75岁,45~55岁所占比例最高,占34.04%,其次是35~44岁,占25.53%,55~64岁,占17.02%。单因素分析显示,宿州市肾结石患者发病与吸烟指数、饮酒指数、饮食习惯、每日饮水量、直系亲属肾结石史、尿路感染史、BMI有关（P<0.05）,与文化程度、月收入无关（P>0.05）。多因素Logistic回归分析结果显示饮酒指数≥200、喜食肉蛋、喜食海鲜、每日饮水量<1000 mL、直系亲属有肾结石史、有尿路感染史、体质量指数(BMI)>24 kg/m²是宿州市肾结石患者发病的危险因素（P<0.05）。结论：宿州市肾结石患者发病年龄多集中于45~55岁,且该地区发病的危险因素包括饮酒指数≥200、喜食肉蛋、喜食海鲜、每日饮水量<1000 mL、直系亲属有肾结石史、有尿路感染史、BMI>24 kg/m²,可作为防治肾结石的参考依据。     

泸州市太伏镇糖尿病的流行病学调查及分析

目的:通过对泸州市太伏镇糖尿病的流行病学调查,了解该病发病情况,以期对该病的防治提供理论依据。方法:用随机抽样的方法对泸州市太伏镇500名居民进行面对面问卷调查,并对其结果进行分析。结果:500名被调查者中有12人患糖尿病,其患病率为2.4%,其中1型糖尿病3人,2型糖尿病3人,其他特殊类型糖尿病1人,不知道什么类型5人;患病的12人中须打胰岛素治疗的有2人,须吃降糖药的有5人;其中9人出现不同程度的并发症。结论:泸州市太伏镇糖尿病的发病率较高,需引起当地政府和卫生部门的重视,积极预防和治疗以减少并发症,提高患者的生活质量。     

高危儿随访情况分析及其父母生命质量调查研究

目的:了解高危儿随访情况并对其父母生命质量进行调查。方法:选取2017年5月~2019年5月于西安交通大学医学院附属三二〇一医院儿童保健科就诊的400例高危儿作为研究对象,分析400例高危儿的高危因素,统计随访次数,分析随访次数1~2次的高危儿的失访原因,同时采用SF-36量表评估高危儿父母与正常儿父母的生命质量。结果:按照占比从高到低的顺序,400例高危儿的高危因素分别为早产、低出生体重、高胆红素血症、窒息和(或)缺氧缺血性脑病、颅内出血、母亲高危因素、吸入性肺炎及其他,占比分别为74.00%、18.50%、13.25%、6.75%、2.75%、2.50%、1.25%、2.00%。400例高危儿中随访次数1~2次183例,占比45.75%,3~5次57例,占比14.25%,≥6次人数160例,占比40.00%。183例随访次数1~2次高危儿失访原因主要是有问题再来医院、孩子正常、不了解随访重要性、自己有育儿经验、孩子小,不方便等。高危儿父母生理机能、生理职能、躯体疼痛、一般健康状况、精力、社会功能、情感职能、精神健康评分均低于正常儿父母(均P<0.05)。结论:高危儿的随访失访率相对较高,其主要原因可能与父母的主观意识有关,此外,高危儿父母生命质量降低,临床工作中可通过加强高危儿系统管理以及对高危儿父母的宣教力度,从而降低失访率,提高高危儿父母的生命质量。     

Congenital Cataract: Prevalence and Surgery Age at Zhongshan Ophthalmic Center (ZOC)

Congenital cataract (CC) is the primary cause of treatable childhood blindness. Population-based assessments of prevalence and surgery age of CC, which are critical for improving management strategies, have been unavailable in China until now. We conducted a hospital-based, cross-sectional study of the hospital charts of CC patients younger than 18 years old from January 2005 to December 2010 at Zhongshan Ophthalmic Center (ZOC) in Guangzhou, China. Residence, gender, age at surgery, hospitalization time, and the presence of other ocular abnormalities were extracted and statistically analyzed in different subgroups. The search identified 1314 patients diagnosed with CC from a total of 136154 hospitalizations, which accounted for 2.39% of all the cataract in-patients and 1.06% of the total in-patients over the six-year study period. Of the identified CC patients, 9.2% had ≥2 hospitalizations due to the necessity of additional surgeries, with a total ratio of boys to girls of 1.75∶1. Based on a subgroup analysis according to age, patients 2–6 years old constituted the highest proportion (29.22%) of all hospitalized CC patients, and those 13–18 years old constituted the lowest proportion (13.47%) of the total number. The average age at surgery was 27.62±23.36 months, but CC patients ≤6 years old (especially ≤6 months old) became increasingly prevalent throughout the 6-year study period. A total of 276 cases (20.93%) of CC were associated with one or more other ocular abnormalities, the highest incidence rates were observed for exotropia (6.24%), nystagmus (6.16%), and refractive error (3.65%). In conclusion, CC patients accounted for 2.39% of all cataract in-patients in a review of 6 years of hospitalization charts from ZOC. The age at the time of surgery decreased over the 6-year study period, which probably reflects the continuing improvement of public awareness of children’s eye care in China.     

The prognostic value of CD3+ tumor-infiltrating lymphocytes for stage II colon cancer according to use of adjuvant chemotherapy: A large single-institution cohort study

BackgroundHigh tumor infiltrating lymphocytes (TILs) density was previously shown to be associated with favorable prognosis for patients with colon cancer (CC). However, the impact of TILs on overall survival (OS) of stage II CC patients who received adjuvant chemotherapy (ADJ) or not (no-ADJ) is unknown. We assessed the prognostic value of CD3+ TILs in stage II CC patients according to whether they had ADJ or not.MethodsPatients treated with curative surgery for stage II CC (2002–2013) were selected from the Santa Maria alle Scotte Hospital registry. TILs at the invasive front, center of tumor, and stroma were determined by immunohistochemistry and manually quantified as the rate of TILs/total tissue areas. High TILs (H-TILs) was defined as >20%. Patients were categorized as high or low TILs (L-TILs) and ADJ or no-ADJ.ResultsOf the 678 patients included, 137 (20%) received ADJ and 541 (80%) did not. The distribution of the 4 groups were: 16% (L-TIL/ADJ), 64% (L-TIL/no-ADJ), 5% (H-TIL/ADJ), 15% (H-TIL/no-ADJ). Compared to H-TILs/no-ADJ, ADJ patients showed a significantly increased OS (P<.01) regardless of the TILs rate whereas L-TILs/no-ADJ had significantly decreased OS and higher risk of death (HR=1.41; 95% CI, 1.06–1.88; P<.0001). On multivariable analysis, the unfavorable prognostic value of L-TILs (vs. H-TILs) for no-ADJ patients was confirmed (HR=1.36; 95% CI 1.02, 1.82; P=.0373).ConclusionLow CD3+ TILs rate was associated with shorter OS in those with stage II colon cancer who did not receive adjuvant therapy. Low CD3+ TILs could be considered an additional risk factor for still ADJ-untreated stage II CC patients, which could facilitate clinical decision making.     

G3BP 在结肠癌中表达的临床病理学研究

目的:探讨G3BP(Ras-GTPase-activiting protein SH3 domain binding protein)在结肠癌组织中的表达及其临床病理意义.方法:用免疫组织化学技术检测50例结肠癌组织中G3BP的表达,并分析其与患者临床病理指标的关系及其对预后的影响.结果:G3BP在结肠癌中阳性表达率为72％(36/50),G3BP的阳性表达率与肿瘤分化程度、淋巴结转移、病变浸润层次及TNM分期有关.而与年龄、性别、肿瘤大小无关(P＞0.05).G3BP高表达组患者的生存时间明显短于低表达组.结论:G3BP表达与结肠癌的侵袭和转移相关,可能是结肠癌的预后差的指标.     

Livestock-Associated Methicillin-Resistant Staphylococcus aureus (MRSA) as Causes of Human Infection and Colonization in Germany

Pigs, cattle and poultry are colonized with MRSA and the zoonotic transmission of such MRSA to humans via direct animal contact, environmental contaminations or meat are a matter of concern. Livestock-associated (LA) MRSA are mostly belonging to clonal complex (CC) 398 as defined by multilocus sequence typing. However, MRSA of other clonal lineages including CC5, CC9 and CC97 have also been detected in livestock animals in Germany. Within the framework of a Dutch-German network project (EUREGIO), 14,036 MRSA isolated from clinical and screening specimens (January 2008 - June 2012) derived from human patients in hospitals as well as general or specialized practices in a German region characterized by a high density of livestock production, were subjected to S. aureus protein A (spa) sequence typing. The prevalence of putative LA-MRSA among the human MRSA isolates was determined by analyzing the detection of livestock-indicator (LI) spa types which had already been reported in German livestock. Overall, 578 spa types were detected among the MRSA isolates. LI spa types t011, t034, t108, t1451, t2011, t571, t1456, t1250, t1255, t1580, t2970, t2346, t1344, t2576, t2330 and t2510 (all of which are indicative for LA-MRSA CC398) accounted for 18.6% of all human isolates. The LI spa types t1430 (CC9), t3992 (CC97), t002 (CC5) and t007 (CC30) were found in 0.14%, 0.01%, 1.01% and 0.04% of all human MRSA isolates, respectively. LI spa types associated with CC398 represented 23% of all MRSA from screening samples and a varying proportion among isolates from clinical specimens ranging between 0% in cerebrospinal fluid, 8% in blood cultures and 14% in deep respiratory fluids. Our findings indicate that LA-MRSA are a major cause for human infection and stress the need for close surveillance. Although LA-MRSA CC398 predominates, the occurrence of putative LA-MRSA from other clonal lineages should be monitored.     

Genetic Influence in Developmental Dysplasia of the Hip in Saudi Arabian Children Due to <Emphasis Type="Italic">GDF5</Emphasis> Polymorphism

Developmental dysplasia of the hip (DDH) is quite common among Saudi Arabian babies. With an objective to assess the presence of SNP rs143383 and the alleles in the GDF5 gene among patients with DDH, parents, and unaffected siblings, we undertook this case-controlled study. We collected and analyzed for a functional single nucleotide polymorphism (SNP) in the 5′-untranslated region of the GDF5 gene (rs143383), 473 blood samples, (100 patients, 200 parents, 73 siblings and 100 healthy controls. We determined the association between the patients’ genotype and their fathers’, mothers’ and siblings’ genotype through Chi-square analysis. The majority of those screened possessed the TC genotype, and 61.8% of patients and their fathers had the TT genotype. There was no association between patients’ and fathers’ genotype, P value?<?0.332, 95% CI (0.328–0.346), and between patients’ and mothers’, P?<?0.006, 95% CI (0.004–0.007). When considering DDH patients’ and the control group’s genotypes, the odds ratios of TT versus other combined (0.641?>?1) and CC versus other combined (0.474?<?1) revealed that the TT genotype has higher risk of developing DDH compared with the CC genotype. The 95 percent confidence interval of TT versus other combined and CC versus other combined is 0.932–2.891 and 0.208–1.078, respectively. For patients’ and fathers’ genotypes, the odds ratios of TT versus other combined (1.275?>?1) and CC versus other combined (0.815?<?1) indicate that the TT genotype has higher risk of exhibiting DDH compared to the CC genotype. For patients’ and siblings’ genotypes, the odds ratios of TT versus other combined (1.669) and CC versus other combined (1.048) specify that the TT genotype possesses higher risk of developing DDH compared with the CC genotype. Our study shows that there exists a relationship between GDF5 (SNP rs143383) and DDH in our population. Second, we found for the first time that the genotype TT and the T allele were overly expressed in the patients and the fathers. More studies on the confirmation of this genetic marker for DDH are called for.     

10-Year Overview of the Hospital-Based Prevalence and Treatment of Congenital Cataracts: The CCPMOH Experience

A review of 6 years of hospitalization charts from Zhongshan Ophthalmic Center (ZOC) revealed that congenital cataracts (CC) accounted for 2.39% of all cataract in-patient cases and that the age at surgery was decreasing before the establishment of the Childhood Cataract Program of the Chinese Ministry of Health (CCPMOH) in December 2010. We aimed to investigate data from the 4 years (January 2011 to December 2014) following the establishment of the CCPMOH, compared, and combined with data from the previous study period (January 2005 to December 2010) to generate a 10-year overview of the hospital-based prevalence and treatment of CC. In the 4-year period after CCPMOH establishment, the prevalence of CC was 2.01% in all hospitalizations, and was 2.78% in all cataract in-patients. Most of the eligible CC in-patients (71%) lived in south China. The ratio of boys to girls was 1.42:1. Nearly 2/3 of the patients underwent cataract extraction with primary intraocular lens (IOL) implantation at a mean age of 78.40±51.45 months, and cataract extraction surgeries without IOL implantation were performed in the remaining 1/3 of patients at a mean age of 10.03±15.92 months. After CCPMOH establishment, an increased incidence of CC was revealed, and the CC in-patients were younger than the patients in the previous period. The 10-year overview (2421 CC in-patients from 206630 hospitalizations) revealed upward trends in both the number and the prevalence of CC and a further reduction in age at surgery. In conclusion, the data from 4-year period after CCPMOH establishment and the 10-year overview showed upward trends in the hospital-based prevalence of CC cases and a further reduction in age at surgery, likely reflecting the effects of the CCPMOH establishment and providing useful information for further CC studies and a valuable foundation for the prevention and treatment of this cause of childhood blindness.     

Cystitis cystica and recurrent urinary tract infections in children

The pathogenesis of recurrent urinary tract infections (UTIs) in preschool children with anatomically correct urinary tract (UT) is rather obscure. In girls, the bladder wall changes of cystitis cystica (CC) may be per se responsible for UTIs recurrence. During the 20-year period, 127 preschool children (125 girls; median age: 6.1 years) with CC, in whom UT anomalies were excluded, were diagnosed. The mean duration of UTIs symptoms prior to diagnosis was 3.31 +/- 2.51 years. Cystoscopical findings were labelled as mild, moderate and severe in 22.8%, 39.4% and 37.8% of patients, respectively. Following the confirmation of CC, long-term chemoprophylaxis with sulfamethoxazole-trimethoprim/nitrofurantoin was administered. A one year UTI-free period after chemoprophylaxis discontinuation was defined as therapeutic success. With 2.5 years median duration of regular chemoprophylaxis this goal was achieved in 58 children mainly with mild/ moderate CC. Thirty children from "improved/unchanged" group taking regular prophylaxis had significant reduction of UTIs ("improved"). Only 12 children belonging to the same group taking regular prophylaxis and all children with irregular prophylaxis had approximately the same number of UTIs as before treatment ("unchanged"). The "improved/unchanged" outcomes were predominantly found in children with severe form of CC. Although urodynamic disturbances detected in more than 50% of patients in whom urodynamics was performed were not found influential on the disease outcome, they could be responsible for its development. The results of our study suggest that regular and long-lasting chemoprophylaxis remains a basis for successful treatment for majority of patients with CC, even those with severe forms. If not treated properly with chemoprophylactic agents and without fair compliance in taking drugs, the disease is prone to recurrent UTIs.     

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion size and phenotype and the mode of inheritance in 183 conotruncal anomaly face syndrome (CAFS) patients. Hemizygosity for a region of 22q11.2 was found in 180 (98%) of the patients with CAFS by fluorescence in situ hybridization (FISH) using the N25(D22S75) DiGeorge critical region (DGCR) probe. No hemizygosity was found in three (2%) of the patients with CAFS by FISH using nine DiGeorge critical region probes and a SD10P1 probe (DGA II locus). None of these three patients had mental retardation and just one had nasal intonation, which was observed in almost all of the 180 CAFS patients who carried deletions (mental retardation, 92%; nasal voice, 88%). Nineteen of 143 families (13%) had familial CAFS and 16 affected parents (84%) were mothers. Although only two of the affected parents had cardiovascular anomalies, the deletion size in the 16 affected parents and their affected family members, who were studied by FISH analysis, was the same. It indicates that extragenic factors may play a role in the genesis of phenotypic variability, especially in patients with cardiovascular anomalies. No familial cases were found among CAFS patients with absent thymus/DiGeorge anomaly (DGA). Also, in all 18 CAFS patients with completely absent thymus/DGA and all 6 CAFS patients with schizophrenia, it was revealed that the deletion was longer distally. A study of the origin of the deletion using microsatellite analyses in 48 de novo patients showed that in 65% of CAFS patients it was maternal, while in 64% of DGA patients it was paternal. The findings of this study indicated that CAF was almost always associated with the deletion of 22q11.2. As well as the major features of the syndrome, other notable extracardiac anomalies were found to be susceptibility to infection, schizophrenia, atrophy or dysmorphism of the brain, thrombocytopenia, short stature, facial palsy, anal atresia, and mild limb abnormalities. Received: 5 January 1998 / Accepted: 7 March 1998     

高危型HPV筛查与TCT 联合检查在宫颈癌筛查中的临床应用

目的:探究液基薄层细胞学检测(TCT)与高危人乳头瘤病毒(HR-HPV)筛查联合检查在宫颈癌(CC)筛查中的临床价值。方法:选择2013年4月~2015年4月期间我院就诊疑似CC患者318例为研究对象;研究对象均进行HR-HPV筛查、TCT检查及阴道镜下病理活检,评价三种筛查结果的临床应用价值。结果:318例可疑CC患者中,病理学诊断炎症患者162例(50.94%),宫颈上皮内瘤样变(CIN)患者151例(47.48%),鳞癌(SCC)患者5例(1.57%);HR-HPV、TCT及HPV+TCT联合对诊断结果与病理诊断的符合率分别为78.30%、85.22%和99.37%;HR-HPV与TCT单独检测的符合率随患者病情进展呈现升高趋势(P0.05);TCT、HR-HPV检测单独进行诊断的敏感度、特异度均低于联合诊断(P0.05);HR-HPV与TCT联合检测诊断CC的敏感度为98.71%、特异度100%。结论:TCT检查HR-HPV筛查联合检查CC的敏感性、特异性及准确性高,为CC筛查的有效方式,值得在临床应用推广。     

UHRF1在结肠癌中的表达及其与细胞增殖的关系

目的:探讨UHRF1(Ubiquitin-like with plant homeodomain and ring覱nger domains 1)在结肠癌组织中的表达,及其与结肠癌细胞增殖的关系。方法:采用免疫组织化学方法检测62例结肠癌组织和癌旁正常对照组织的UHRF1表达,统计分析其表达和临床病理资料和预后关系。采用si RNA抑制UHRF1表达,分析其与细胞增殖的关系。结果:结肠癌组织中UHRF1高表达,癌旁正常组织低表达。62例结肠癌组织中33例UHRF1阳性,阳性率为53.2%。UHRF1表达与淋巴结转移、远处器官转移和Dukes'分期相关(P0.05)。高表达UHRF1结肠患者的生存时间明显较低表达者短(P0.05)。单因素分析显示淋巴结转移、远处器官转移、UHRF1和Dukes'分期与患者累积生存率相关(P0.05)。多因素分析显示UHRF1可作为结肠癌患者预后的独立危险因子(P0.05)。采用si RNA转染HCT116后,UHRF1表达显著降低,细胞增殖被抑制。结论:UHRF1参与结肠癌细胞增殖,与结肠癌患者预后密切相关。