石家庄地区799例孕妇产前诊断羊水细胞染色体结果分析

目的分析产前诊断羊水染色体核型,总结胎儿异常核型出现的类型、发生率及相关影响因素,为产前诊断提供依据。方法对产前筛查高危孕妇知情同意下进行羊水穿刺、细胞培养及染色体制备、G显带核型分析。结果799例羊水标本中共发现异常染色体77例,发生率为9．64％。其中21-三体4例,46,Xn,inv（9）4例,46,Xn,inv（1）（p12q12）,46,Xn,iny（2）（p11q33）,46,Xn,t（7;15）（q31q25）,46,Xn,t（11;12）（q25;ql3）,46,Xn,add（15）,47,XYY,47,XXY,46,xn[65]／47,Xn,＋5[3],46,xn[43]／47,Xn,＋17[4],46,Xn[95]／46,Xn,psudic（22;22）（q13;ql3）[5]各1例,染色体多态63例。结论羊水染色体核型分析是产前筛查高危确诊实验,能提高染色体病的检出率,对产前诊断有重要的指导意义。     

无创DNA产前检测在诊断胎儿染色体非整倍体疾病中的应用

目的探讨新一代测序技术的无创DNA产前检测在诊断胎儿染色体非整倍体疾病中的应用价值。方法 2012年8月1日至2013年12月31日在辽宁省大连市妇幼保健院接受孕妇外周血中游离胎儿DNA检测者2548例,均为单胎,妊娠12周-26周,按照孕妇年龄、血清学筛查结果及超声检测结果分为唐氏综合征筛查（唐筛）高危组、高龄组（孕产期年龄超过35周岁）、B超检测异常组和其他原因组,共计4组,由北京贝瑞和康生物技术有限公司和湖南家辉遗传专科医院合作开展的＂大规模基于新一代测序技术的新型无创DNA产前检测＂对孕妇外周血中游离胎儿DNA进行序列分析,对检测结果阳性者进行羊水穿刺或脐血穿刺及胎儿染色体核型分析;对检测结果阴性者行电话随访其胎儿出生后情况。结果 ①4组孕妇共计2548例均成功完成游离胎儿DNA检测,检测结果为阳性者共39例,包括21三体18例、18三体7例、13三体2例、性染色体异常12例。其中唐筛高危组检出21三体5例、18三体1例、13三体0例、性染色体异常3例;高龄组检出21三体3例、18三体3例、13三体0例、性染色体异常5例;B超检测异常组检出21三体9例、18三体2例、13三体0例、性染色体异常2例;其他原因组检出21三体1例、18三体1例、13三体2例、性染色体异常2例;②孕妇游离胎儿DNA检测结果异常的39例孕妇中,32例进行了羊水穿刺或脐血穿刺及染色体核型分析。18例21三体检测阳性者中,13例进行了羊水穿刺或脐血穿刺,其中12例结果与无创DNA吻合,1例不吻合,5例拒绝羊水穿刺或脐血穿刺而直接引产,经随访胎儿均有异常。结果检出率100%,准确率92.3%。7例18三体检测阳性者中,有6例进行了羊水穿刺或脐血穿刺,其中5例结果与无创DNA吻合,1例不吻合,1例拒绝羊水穿刺或脐血穿刺而直接引产,经随访胎儿存在多处异常。结果检出率100%,准确率83.3%。2例13三体检?     

新疆地区4000例遗传咨询患者细胞遗传学分析

目的统计遗传咨询患者染色体异常的类型和发生概率,研究细胞遗传学检查在临床诊断中的应用价值。方法采用常规外周血淋巴细胞培养及染色体制备,G显带,镜下核型分析。结果4000例遗传咨询患者中共检出染色体异常核型540例,检出率为13.50％。其中唐氏综合征92例,占总数的2.30％;特纳综合征22例,占总数的0.55％;平衡易位38例,占总数的0.95％;罗氏易位12例,占总数的0.30％;染色体倒位76例,占总数的1.90％;常染色体多态性变异216例,占总数的5.40％;Y染色体多态性变异70例,占总数的1.75％;另见染色体部分缺失6例,标记染色体3例,衍生染色体2例。结论染色体核型分析结果是临床诊断及优生优育的重要参考依据;进行遗传咨询、产前筛查和产前诊断可有效降低出生缺陷。     

预切开窗后插管失败再次胆管插管的体会

目的探讨对经内镜逆行胰胆管造影术（ERCP）预切开或开窗方法后胆管插管失败者,行第2次ERCP操作的价值。方法167例患者术前拟诊胆总管结石和／或良性乳头狭窄109例,胆胰占位性病变58例。第一次ERCP标准胆管插管均在20min以上,不能成功后作预切开或开窗术,再反复试插后仍未能成功;3～5d后,再次行ERCP;第2次ERCP大多数患者按胆胰管合流水平位、前位和后位顺序插管。结果133例（79．6％）经第2次ERCP获得成功,其中水平位插管成功85例,前位插管成功36例,后位插管成功12例。插管成功后顺利完成了内镜的相应治疗。1例发生乳头穿孔伴后腹膜感染,1例并发重症胰腺炎形成胰周脓肿,均经腹腔穿刺引流方法治愈。结论经过更缜密的准备,掌控好胆管插管技巧,再次ERCP仍有较高的成功率。     

经尿道精囊输精管插管术临床应用30例报告

目的：探讨经尿道精囊输精管插管术在诊断精道通。情况和治疗精道疾病中的应用价值。方法回顾性分析采用输尿管镜经射精管精囊逆行插管,并留置输尿管导管造影行药物冲洗引流等方法诊断精道梗阻及治疗精道疾病患者30例的临床资料。结果所有患者留管造影都可见精道明显显影,且均有不同程度的症状改善。随访3个月,复发3例。结论经尿道精囊输精管插管术对精道梗阻的诊断及精道疾病的治疗有较好的效果,输尿管镜下精囊输精管置管术效果显著,并发症少,临床应用价值较高。     

A new genetic abnormality leading to TP53 gene deletion in chronic lymphocytic leukaemia

The analysis of chromosomal abnormalities provides significant prognostic information in patients with chronic lymphocytic leukaemia (CLL), a disease with a highly heterogeneous clinical course. Chromosomal abnormalities commonly found are trisomy 12, del(13)(q14), del(11)(q22-23), del(17)(p13) and del(6)(q21). Translocations are present in some patients and affect regions recurrently involved in CLL. This report describes the clinical and pathological characteristics of four CLL patients showing a new recurrent chromosomal abnormality dic(8;17)(p11;p11), that implied loss of the TP53 gene in all cases. In addition, TP53 gene was mutated in three out of four patients. Mechanically, Low Copy Repeats (LCR) in 17p12 and 8p11 may explain the origin of the translocation by non-allelic homologous recombination (NAHR). Isolated dic(8;17)(p11;p11) in patients with mutated IGHV genes status may not have the same prognostic impact as other mutations or deletions affecting the TP53 gene. Larger series are needed to better evaluate the clinical impact of this chromosomal aberration during the course of the disease.     

Reduced Coronary Flow Reserve and Early Diastolic Filling Abnormalities in Patients with Nephrotic Syndrome

Background. Increased cardiovascular disease risk is very well known in nephrotic syndrome. Coronary flow reserve measurement by trans-thoracic echocardiography reflects coronary microvascular and endothelial function. However, diastolic filling abnormalities by echocardiography may indicate diastolic dysfunction. Our aim was to evaluate endothelial and diastolic functions by trans-thoracic echocardiography in nephrotic syndrome. Methods. Eighteen patients with nephrotic syndrome (five females, 34 ± 17 years) and 30 controls (10 females, 35 ± 10 years) were evaluated in this cross-sectional observational study. Age, weight, lipid profile, glucose, blood urea nitrogen, creatinine, serum albumin, total protein, C-reactive protein, erythrocyte sedimentation rate, blood pressures, 24-hour urine volume, and protein were recorded. Glomerular filtration rate was estimated by Cockcroft-Gault Formula. Doppler flow and other echocardiographic parameters were measured by Vivid 7 echocardiography. Results. Coronary flow reserve was significantly lower in patients than controls (p < 0.001) and was negatively correlated with proteinuria (p < 0. 001), creatinine levels (p?=?0.03), total cholesterol (p?=?0.02), C-reactive protein (p?=?0.02), and erythrocyte sedimentation rate (p?=?0.005). E/A ratio was significantly lower in patients than in controls (p?=?0.005). DT was significantly higher in patients than in controls (p?=?0.01) and isovolumic relaxation time was similar in both groups. Conclusion. Coronary flow reserve and left ventricular diastolic filling are significantly impaired in nephrotic syndrome. Proteinuria, serum creatinine, total cholesterol and inflammation may have all contributory effects on endothelial dysfunction. Early evaluation of patients with nephrotic syndrome should include coronary flow and diastolic function by echocardiography.     

Partial Cervical Agenesis and Complete Vaginal Atresia

BackgroundThe objective of this study was to report 2 cases of the combined congenital anomalies of complete vaginal atresia and partial cervical agenesis, and highlight the limitations of magnetic resonance imaging for definitive initial diagnosis, and consequently the importance of early definitive management, to avoid life-threatening sepsis. Herein we provide a retrospective case audit of two patients with congenital abnormalities between 2005 and 2013 who were treated in a quaternary statewide pediatric and adolescent gynecology center.CasesTwo patients with the combined congenital anomalies of complete vaginal agenesis and partial cervical agenesis highlight the difficulties encountered with the limitations of magnetic resonance imaging in accuracy of diagnosis, as well as development of life-threatening sepsis that requires hysterectomy. Both patients were initially imaged as having distended endometrial cavities and cervical canals with what was thought to be an obstructive upper vaginal septum and absent lower vagina. Both required initial neovagina creation, however the cervices were never clinically or surgically visualized.Summary and ConclusionPartial cervical agenesis is a relatively rare form of Müllerian abnormality which, if not diagnosed and definitively treated early, can have significant morbidity and mortality. Although magnetic resonance imaging is the diagnostic imaging gold standard for Müllerian abnormalities, it is important to recognize the limitations of this modality, the potential sequelae of these limitations, and to appreciate the importance of early accurate diagnosis and treatment of this condition. Importantly, if the imaging diagnosis does not completely correlate with the clinical and surgical findings, then a high suspicion of complete or partial cervical agenesis is prudent, because the consequences of nondefinitive early treatment can be life-threatening and potentially fatal.