Phylogenetic groups and virulence factors of Escherichia coli strains causing pyelonephritis in children with and without urinary tract abnormalities

Escherichia coli isolates causing acute pyelonephritis in 93 children (25% with urinary tract abnormalities) were tested for nine virulence factors (papC, papGII, papGIII, sfa/foc, hlyC, cnf1, iucC, fyuA and iroN) and their phylogenetic groups were determined. Isolates lacking papGII were more frequent among patients with urinary tract abnormalities (58% vs. 10%, p 0.0003), as were non-virulent phylogenetic group A isolates (25% vs. 5%, p 0.043). Pyelonephritis caused by less virulent E. coli strains was more frequent among patients with significant urinary tract abnormalities. Further studies are required to determine whether screening for E. coli virulence factors may help to identify children warranting anatomical investigations.     

胎儿结构畸形、微小畸形与染色体异常的相关性研究

目的通过对不同类型和数量的胎儿结构畸形、微小畸形与染色体异常的关系性研究,从而对具有上述病变的胎儿的遗传咨询和染色体产前诊断做一个更好的指引。方法收集2004年1月至2005年12月因发现胎儿结构畸形和微小畸形于孕中晚期进行脐带穿刺术及染色体检查病例120例。统计不同的结构畸形、微小畸形的染色体异常核型的检出率、检出类型。并对所有病例进行术后或出生后随访。结果脐带穿刺术和脐血染色体培养成功率为100%,检出异常核型13例(10.8%)。其中18三体异常核型6例,21三体2例,13三体1例,45,XO(Turner综合征)1例,衍生染色体2例,嵌合体1例。多发畸形染色体异常发生率为40%(8/20);单发畸形染色体异常发生率为7.3%(3/41);单独存在的胎儿超声软指标染色体异常发生率为2.1%(1/47);多个超声软指标染色体异常发生率为8.3%(1/12)。结论胎儿结构畸形与非整倍体染色体病关系密切,而单独存在的超声软指标发生染色体异常的机率较低,但当出现2个以上软指标时发生染色体异常的几率将增加。我们应根据结构异常的种类和数量,给予孕妇不同的产前咨询意见和提供必要的侵入性检查。     

Asymptomatic brucellosis infection in humans: implications for diagnosis and prevention

Human brucellosis is mainly caused by contact with Brucella-infected animals and their secretions and carcasses. Individuals who are continuously in contact with animals are considered to be at a high risk but only some show symptoms and are diagnosed as cases of brucellosis. Here, we showed that asymptomatic brucellosis infections occur among humans. Asymptomatic infections mainly result from less frequent contact with Brucella and/or contact with low-virulence Brucella. In our study, patients with asymptomatic infection had low antibody titres and different contact patterns. Awareness of asymptomatic infection is important for early diagnosis of brucellosis and prevention of chronic infection.     

恶性髓系血液病-7/7q-异常的分子细胞遗传学分析

目的 分析染色体-7／7q-在骨髓增生异常综合征(myelodysplastic syndrome，MDS)和急性髓细胞白血病(acute myeloblastic leukemia，AMI，)中的发生频率；探讨荧光原位杂交技术(fluorescence in situ hybridization，FISH)在检测和鉴定-7／7q-异常中的价值。方法 回顾性分析所有接受细胞遗传学分析(conventional cytogenetic analysis，CCA)的MDS／AML患者的核型特征，其中70份进行FISH分析。应用双色荧光直接标记的7号着丝粒探针(CEP7，光谱绿)和7q31基因序列探针(D7S486，光谱桔红)，15份正常样本作为对照。结果 -7／7q-在AML和MDS中出现频率分别为4．5l％(31／687例)和5．7l％(28／490例)，分别占异常核型病例的5．68％和l0．29％。7q-常见的缺失区域为7q21—22(10例)和7q31—35(10例)。FISH证实伴有克隆性-7／7q-异常，但在随机性-7／7q-异常或正常核型中未检出-7／7q-异常。在核型分析出现7q-异常的病例中，FISH检出7／11例可同时伴有-7克隆的出现，而且7q-异常的细胞数显著高于-7异常细胞数(42．5％vs8．4％，P=0．025)。1例核型为del(7)(q22)患者FISH证实为染色体易位；1例7q 患者FISH显示dup(7q)；1例复杂异常核型，FISH确定其累及7q。结论 FISH是鉴定或确定7q结构异常的强有力工具，能精确地评价-7／7q-。7q-异常通常与-7异常在同一个样本中共存，且7q-细胞数显著增高，推测-7克隆衍生于7q-的丢失。     

78例男性不育患者性染色体异常的细胞遗传学分析与遗传咨询

目的探讨男性不育与性染色体异常的关系,倡导心理治疗模式下的遗传咨询策略的应用。方法常规外周血淋巴细胞培养方法制备染色体标本,G显带技术进行细胞遗传学分析,必要时行c显带辅助检查。结果筛选出的78例男性不育性染色体变异中共包括8种异常核型,其中数目异常35例（44．87％）,结构异常43例（55．13％）,主要表现为少精或无精子症。结论性染色体异常是导致男性不育的主要因素之一;对此类患者进行心理治疗模式下的遗传咨询,解决心理困惑,提供遗传与优生咨询策略。     

侵袭性纤维瘤病的影像分析及组织病理学分析

目的 分析侵袭性纤维瘤病的影像特点,以及组织病理学特征。方法 回顾性分析2013年1月～2018年3月湖北省荆门市第一人民医院经术后病理证实的 15例AF患者的 CT 和 MRI表现,及MR与组织病理对照分析。结果 15 例患者全部行 CT 平扫,8例行CT增强;9例行 MRI平扫,6例行MRI增强。CT 平扫示13 例呈不均匀等、低密度,2 例呈较均匀稍低密度;12例边界不清,3例边界清楚;CT 增强8例均呈渐进性不均匀明显强化。MRI平扫提示T1WI、T2WI、压脂、DWI等序列肿瘤均为不均匀信号,夹杂不规则低信号,肿块边缘呈爪形浸润或边缘不清。MRI增强 6例均呈不均匀明显强化。结论 CT和MRI 都能从不同方面为AF的诊断提供信息,MRI能更好地显示肿瘤的形态、范围及边缘,且可推断肿瘤的大致成分,对AF的诊断更有帮助。     

无症状性脑梗死患者智能障碍及相关因素研究

目的：探讨无症状性脑梗死（ACI）患者的智能障碍及相关因素。方法：用韦氏智力量表对经CT或MRI证实的56例ACI患者进行神经心理学检查,并与症状性脑梗死（SCI）组及正常对照组比较。对ACI病例中智能障碍组与非智能障碍组的梗死灶数量和部位、既往史及受教育程度进行对比分析。结果：36例ACI患者智力低于正常,其中13例出现智能障碍;ACI组分测验值与SCI比较无差异,但明显低于正常对照组;右侧梗死组中PIQ明显低于VIQ（P＜0．05）;智能障碍组受教育程度低、糖尿病史、多发性梗死、双侧梗死、颞叶梗死、侧脑室旁及丘脑梗死者与非智能障碍组相比有显著差异（P＜0．01－0．05）;智能障碍与文化程度呈负相关,与高血压病程呈正相关。结论：多发性梗死、双侧梗死、皮质及皮质下梗死与智能障碍发生密切相关,尤其是颞叶、侧脑室旁及丘脑梗死更易出现智能障碍;文化水平低、高血压、糖尿病是ACI智能障碍的危险因素。     

Histopathological diagnosis of hypercurved seminiferous tubules

A simple method for the recognition of hypercurvature of the seminiferous tubules in otherwise normal biopsies from infertile males consists of the recognition of characteristic 'figure 8' profiles of sectioned seminiferous tubules. Nineteen cases of morphometrically verified hypercurvature and 24 controls were tested in order to determine the validity of the method, which showed virtually no overlap in the two groups when at least four x 100 fields were assessed for 'figure 8' and grazing profiles. A recommended diagnostic approach, with cautions concerning pitfalls, is presented, and incidence, pathogenesis, and potential treatment are briefly discussed.     

37例世界首报染色体异常核型及临床分析

目的探讨世界首报染色体异常与疾病的关系。方法自1984年1月～2011年3月,对4511例有不良孕产史、不孕症、习惯性流产、生育畸形、死胎、死产、智力低下、表型异常、有遗传病家族史等前来就诊和咨询者进行细胞遗传学检查。取受检者肝素抗凝外周血,无菌条件下进行淋巴细胞72h培养,常规G显带,计数30个分裂相,分析核型3个,异常者加倍分析。必要时行C和R显带分析。结果检出异常染色体533例,异常检出率为11.82%。经中国医学遗传中心鉴定,世界首报染色体异常核型37例,占染色体异常的6.94%。结论世界首报染色体异常核型的检出,可降低人群发病率,并为疾病基因筛选、定位提供重要线索。     

The most relevant chromosomal abnormalities in the north of Rio Grande do Sul,Brazil: 26 years of cytogenetic analysis

From 1992 to 2018, cytogenetic analyses were successfully performed to explore the chromosomal abnormalities of 729 patients, who utilised a pioneering counselling service in the city of Passo Fundo in the northern part of the Brazilian state of Rio Grande do Sul. This city is characterised by a large conglomerate of private and public hospitals. A classical cytogenetic analysis and G-banding were performed using the patient samples. Although normal karyotypes were observed for 562 of the cases, 167 individuals evidenced chromosomal alterations. Among those, 110 exhibited numerical alterations (65.86%), 41 demonstrated structural modifications (24.55%) and 16 showed both numerical and structural chromosomal changes (9.58%). This study describes the diversity of the chromosomal alterations in this region, which have not been previously examined. After 26?years of study, the findings are discussed herein in a self-critical form.     

妊娠孕妇产前超声检查胎儿心脏异常表现与染色体异常的相关性

目的探究妊娠孕妇产前超声检查胎儿心脏异常表现与染色体异常的相关性。方法回顾性分析我院2016年2月-2018年2月产前检查的500例胎儿心脏超声检查及染色体核型分析结果,分析心脏异常与染色体核型分析结果的相关性。结果本研究中共有26例发生胎儿心脏异常,37例存在染色体异常,26例胎儿心脏异常中共有19例发生染色体异常,发生率为73.08%。26例发生心脏异常的胎儿主要为室间隔缺损、卵圆孔未闭、三尖瓣轻度反流、左室功能异常,其中室间隔缺损发生率最高,其染色体异常率占总异常率的18.92%,三尖瓣轻度反流最低,占5.41%。将上述数据代入Spearman检验后发现,胎儿心脏异常表现与染色体异常成正相关(P<0.05)。结论妊娠孕妇产前超声检查胎儿心脏异常表现与染色体异常存在正相关,当胎儿出现心脏结构畸形时,胎儿染色体异常发生率较高,临床在超声检查应尤为注意。     

36例X染色体异常的遗传学分析

目的通过对36例女性性发育异常患者的核型分析,进一步探讨X染色体异常的遗传学效应。方法采用外周血淋巴细胞培养制片、染色体G显带技术进行核型分析。结果36例性发育异常患者中X染色体数目异常26例,结构异常10例。结论女性X染色体异常可导致性腺发育不全,身材矮小,原发闭经,月经紊乱等,两条完整的X染色体对女性性腺及体征的发育是十分重要的。     

无症状性脑梗死患者认知功能障碍与抑郁和梗死部位的关系

目的 :探讨无症状性脑梗死 (ACI)患者的认知功能障碍与抑郁和梗死部位、数量的关系。方法 :选择 5 6例ACI患者作为研究对象 ,用修订韦氏成人智力量表和记忆量表、汉密顿抑郁量表等方法检测。结果 :1.双侧梗死组VIQ、FIQ及MQ显著低于右侧梗死组 (P <0 .0 5～ 0 .1) ,左侧梗死组VIQ、FIQ显著低于右侧梗死组 ;2 .皮质合并皮质下梗死组、皮质梗死组MQ显著低于皮质下梗死组 (P <0 .0 1) ;3.多灶梗死组VIQ、PIQ、FIQ及MQ分均显著低于单灶梗死组 (P <0 .0 5～ 0 .0 1) ;4 .抑郁组各智商及MQ显著低于正常组 (P <0 .0 1) ,非抑郁组VIQ显著低于正常组 (P<0 .0 5 )。抑郁组MQ显著低于非抑郁组 (P <0 .0 1) ,抑郁组和非抑郁组各智商比较未见显著差异。结论 :双侧梗死、皮质合并皮质下梗死、多发性梗死及抑郁的患者更易产生认知功能障碍。     

光谱核型分析技术在染色体异常诊断中的应用

目的建立稳定的光谱核型分析技术,并评价其在染色体异常诊断中的应用价值。方法应用光谱核型分析技术对16例外周血和1例羊水细胞染色体样本进行诊断,并与G-显带诊断结果进行比较。结果所建立的光谱核型分析技术不但成功地对全部15例G-显带诊断结果为正常或平衡易位的样本进行了正确诊断,而且对G-显带无法识别的1例外周血样本的衍生染色体片段和1例羊水样本的标记染色体亦明确了来源。结论光谱核型分析技术对染色体异常的诊断具有很高的敏感性和特异性,并且在明确传统核型分析技术不能分析的标记染色体或衍生染色体片段的来源方面具有重要应用价值。     

Infertility observed in female rats treated with N-acetyl-L-cysteine: Histopathological examination of ovarian follicles and recovery of fertility

ABSTRACT  We previously reported infertility in female rats that received N-acetyl-L-cysteine (NAC) intravenously at a dosage of 1000 mg/kg/day. Unfertilized oocytes and gestation day 1 and 2 embryos were assessed morphologically, and the results suggested that absence or thinning of the zona pellucida (ZP) is related to infertility. However, the morphological characteristics of oocytes before ovulation and recovery from the effects of NAC were not clarified. In the present study, the ovarian follicles were histopathologi-cally examined and the recovery of reproductive function was evaluated to investigate the effects of NAC. Female Sprague-Dawley rats at 10 weeks of age received NAC intravenously at 1000 mg/kg/day for more than 1week. Thinning of the ZP was observed in the ovarian follicles in all stages of growth by light microscopy. Outflow of the components of the ZP between the corona radiata and disarrangement of the corona radiata were more pronounced in growing follicles than in large secondary follicles. Similar findings were observed by electron microscopy, and the effects of NAC were limited to the ZP. Infertility and thinning of the ZP were observed in the no-recovery NAC group, but not in the recovery NAC group, in which animals recovered within four estrous cycles after NAC administration. It has been reported that the ZP is expressed by oocytes or by both oocytes and granulosa cells, but no changes were noted in these cells. The present findings suggest that NAC affects the ZP directly and that reproductive function may recover from the effects of NAC.     

Asymptomatic Clostridium difficile carriage rate post-fecal microbiota transplant is low: a prospective clinical and stool assessment

ObjectivesWe aimed to assess the asymptomatic Clostridium difficile carriage rates following fecal microbiota transplantation (FMT).MethodsAll patients who underwent FMT for recurrent Clostridium difficile infection (CDI) via colonoscopy or sigmoidoscopy between June 2013 and April 2015 and had a minimum of 8-week follow-up post FMT at two tertiary care referral centres were included in the study. Patients were prospectively followed both clinically and with stool assessments for 8 weeks post FMT. Assessments occurred at 1 week and 4 weeks post FMT to assess for failure. Failure was defined as presence of diarrhoeal symptoms and a positive CDI stool test by polymerase chain reaction for toxin gene (PCR) at any time point during the 8-week follow-up period. CDI stool testing using PCR was performed at weeks 1 and 4 post FMT in asymptomatic patients as well.Results167 patients were included. Twenty-eight patients (16.7% (28/167)) were FMT failures throughout the 8-week period. At week 1, seven patients had already failed the FMT. Of the remaining 160 patients, 144 were asymptomatic, and among these, 141 were negative for C. difficile toxin gene by PCR. This resulted in an asymptomatic carriage rate of 2.1% (3/144). At week 4, 143 patients had not yet failed FMT. Of these patients 129 patients were asymptomatic and among those, 125 were negative by PCR, resulting in an asymptomatic carriage rate of 3% (3/129).ConclusionsAsymptomatic carriage after FMT is rare. This suggests that testing for cure after FMT in asymptomatic patients is not necessary.     

Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses

Current knowledge about the incidence of chromosomal abnormalities in the general population comes from studies in newborns carried out in the 70s, before the era of widespread prenatal diagnosis. In the following years, data on frequency of chromosomal abnormalities in the second trimester of pregnancy have been used in conjunction with the data on the natural history of chromosomally abnormal fetuses to infer maternal age-specific rates of cytogenetic abnormalities in live-born infants. Starting from the data gathered in 1995–1996 from all Italian cytogenetic laboratories (with 92% compliance to the study), we have compared the frequency of chromosomal abnormalities at amniocentesis in cases with maternal age of ≥35 years (51 758 individuals) and cases with maternal age of <35 years (37 207 cases). The comparison confirmed the age-dependency of aneuploidies, whereas none of the structural abnormalities showed age-related differences. Furthermore, among the mosaic aneuploidies, trisomy 21 and 45,X/46,XX were found with a significantly higher incidence in older women. Chromosomal abnormalities that showed no significant difference between the two groups were summed for the overall national cohort, providing a general estimate of the incidence in the second trimester of pregnancy. The data provide critical background information for prenatal genetic counseling and for the planning of health care policy.     

高尿酸血症与中青年无症状性脑梗死的相关性分析

目的 探讨血清尿酸与中青年无症状性脑梗死的关系。方法 收集我院中青年患者300例,根据临床神经功能缺损症状及颅脑MRI或CT结果,分为无症状脑梗死组、有症状脑梗死组和对照组,每组100例。测定三组患者的血清尿酸、血脂、血糖水平。将高尿酸脑梗死患者分为口服苯溴马隆控制血尿酸组（控制组）和非控制尿酸组（非控制组）。控制组口服药物苯溴马隆片治疗,非控制组不接受药物治疗,两组每3个月进行随访。对高尿酸水平与中青年脑梗死进行Logistic多因素回归分析。结果 无症状脑梗死组、有症状脑梗死组和对照组高尿酸患者分别为41例、57例和18例,差异有统计学意义（P＜0.05）。无症状性脑梗死组41例尿酸升高,进展为有症状脑梗死17例,59例尿酸正常,进展为有症状脑梗死7例,差异有统计学意义（P＜0.05）。98例高尿酸脑梗死患者中,控制组50例进展为有症状性脑梗死或复发有7例,非控制组48例进展为有症状性脑梗死或复发有17例,差异有统计学意义（P＜0.05）。高尿酸水平与中青年脑梗死的发生及进展有相关性（OR=1.31,95%CI=1.003~1.918,P＜0.01）。结论 高尿酸水平与中青年脑梗死呈正相关,控制高尿酸可有效预防和降低中青年无症状脑梗死进展为急性脑梗死。     

Microarray analysis of differentially expressed genes in vaginal tissues from women with stress urinary incontinence compared with asymptomatic women

BACKGROUND: The pathophysiology of pelvic floor dysfunction resulting in stress urinary incontinence (SUI) in women is complex. Evidence suggests that there is also a genetic predisposition towards SUI. We sought to identify differentially expressed genes involved in extracellular matrix (ECM) metabolism in vaginal tissues from women with SUI in the secretory phase of menses compared with asymptomatic women. METHODS: Tissue samples were taken from the periurethral vaginal wall of five pairs of premenopausal, age-matched SUI and continent women and subjected to microarray analysis using the GeneChip Human Genome U133 oligonucleotide chip set. RESULTS: Extensive statistical analyses generated a list of 79 differentially expressed genes. Elafin, keratin 16, collagen type XVII and plakophilin 1 were consistently identified as up-regulated ECM genes. Elafin, a serine protease inhibitor involved in the elastin degradation pathway and wound healing, was expressed in pelvic fibroblasts and confirmed by Western blot, quantitative competitive PCR and immunofluorescence cell staining. CONCLUSIONS: Genes involved in elastin metabolism were differentially expressed in vaginal tissue from women with SUI, suggesting that elastin remodelling may be important in the molecular aetiology of SUI.