1186例女性不孕症病因分析

目的探讨女性不孕症病因状况及分布,为其预防与诊疗策略提供参考依据。方法采取回顾性抽样调查列表收集女性不孕症病例1186例临床资料,用χ2检验对其进行统计学分析。结果女性不孕症患者发病多因素病因占48.6%,主要病因构成为:排卵异常、输卵管因素和子宫因素,共占85.5%,子宫因素性不孕比例较既往研究有所上升。结论女性不孕症发病多因素倾向较明显,其主要原因是排卵异常、输卵管因素和子宫因素,子宫因素所致不孕应引起重视。     

213例女性不孕症病因分析

目的探讨女性不孕症的主要病因及分布.方法对213例女性不孕症患者的临床资料进行分析.结果在女性不孕的病因中,输卵管因素占29.1%,其中,继发输卵管阻塞性不孕的发生率41.58%,明显高于原发不孕组,两组比较有显著性差异(P＜0.01);排卵因素占21.13%;子宫因素占19.02%;阴道炎症占12.68%等.结论女性不孕的首要原因是不同程度的输卵管阻塞,其可由生殖道炎症引发,但人工流产、药物流产及盆腔手术创伤也是导致输卵管阻塞的重要原因;排卵障碍居女性不孕病因第2位,由多种因素引发,不容忽视.     

女性不孕症的病因分析与优生咨询

若夫妇同居 2年 (目前国外较多定为 1年 ) ,从未采取任何避孕措施而不孕者诊断为不孕症。不孕症是一种常见症候 ,我国已婚夫妇中约有 10 % 15 %不能生育 ,究其原因约1/ 3的病因在男方 ,2 / 3病因在女方。不孕症虽不属一种严重的疾病 ,但它却关系到家庭和睦和社会安定问题。我国在大力推行计划生育政策的同时 ,积极开展对不孕和不育症的治疗 ,使无子女的夫妇能够获得一个子女 ,从而减轻他(她 )们心理和社会的压力 ,这对维护社会的安定团结具有重要的作用。本文就女性不孕症的病因及其优生咨询作一概述。一、女性不孕症的病因分析女性不孕症…     

CT-VRT重建技术对腰骶部隐性脊柱裂的诊断价值

目的评估CT容积漫游技术（CT-VRT）重建对腰骶部隐性脊柱裂（SBO）的诊断价值。方法回顾性分析212例腰骶部隐性脊柱裂的骨盆X线平片和CT-VRT的影像特征,包括对称性、形态、范围和受累椎体及脊柱节段,并比较两种检查手段对骨质缺如的影像特征的显示情况。结果在显示SBO对称性、形态、范围、受累椎体及脊柱节段和游离骨脊等方面,CT-VRT比X线平片准确（P〈0.05）;对于其他影像特征的显示CT-VRT和X线平片无明显差异（P〉0.05）。结论 X线平片和CT是检查SBO的有效手段,CT-VRT能够直观、立体、更准确的显示SBO形态、范围和受累椎体及脊柱节段,鉴别真、假裂隙样骨质缺如,并进一步确定假裂隙样骨质缺失的本质。     

骶椎椎板发育及骶椎隐性脊柱裂发生率年龄变化规律的多层螺旋CT影像研究

目的探讨基于多层螺旋CT(MSCT)影像的国人骶椎椎板发育情况, 以及骶椎隐性脊椎裂(SBO)发生率随年龄变化的规律。方法横断面调查分析2020年1月—2021年11月广州市妇女儿童医疗中心和广州市干部健康管理中心共1 197例非骶尾椎疾病受检者的下腹部MSCT影像资料, 其中男692例、女505例, 年龄2 d～48岁。1 197例按年龄分为新生儿组(≤1个月, 23例)、婴儿组(>1个月～1岁, 83例)、幼儿组(>1～3岁, 202例)、学龄前组(>3～6岁, 345例)、学龄组(>6～12岁, 457例)、青春期组(>12～18岁, 67例)和成人组(>18～48岁, 20例)7组。患者均行MSCT容积扫描, 采用标准算法对骶尾椎行容积再现(VR)成像。观察指标:(1)1 197例受检者中选择研究后期纳入的636例观察各年龄段受检者S1～S5骶椎椎板、棘突发育情况。(2)在1 197例受检者中对比各年龄段组受检者SBO发生情况及S1～S5不同椎体缺裂发生情况。结果 (1)新生儿期69.6%(16/23)S1～S4椎板骨化中心已分化发育为椎弓根...     

1116例女性不孕症病因分析

目的探讨女性不孕：症的主要病因。方法对116例女性不孕症患者的临床资料进行分析。结果（1）炎症性因素占46．55％，是不孕的第一位原因。（2）因排卵障碍引起的（主要是多囊卵巢综合症和高泌乳索血症）占35．34％，是不孕的第二位原因。（3）其它原因引起的（如生殖器畸形、子宫发育不良、子宫内膜异位症、免疫性不孕和遗传等因素）占18．11％。结论炎症性因索是女性不孕的首要原因。不孕症的治疗必须根据不同的病因，有计划地制订针对性的治疗方案，同时对患者情感的支持以及心理的及时疏导也是必不可少的。     

泌乳素与女性不孕症的关系

女性不孕症的症因十分复杂,如何鉴别是治疗和估计预后的关键.测定血清中的泌乳素(PRL)水平,不仅能判断疾病的性质,还可能对病情的轻重、疗效观察及转归预测做出客观评价.本文对不孕症妇女血清PRL水平进行了测定,并对两者的关系进行了探讨.     

116例女性不孕症病因分析

目的 探讨女性不孕症的主要病因.方法 对116例女性不孕症患者的临床资料进行分析.结果 (1)炎症性因素占46.55%,是不孕的第一位原因.(2)因排卵障碍引起的(主要是多囊卵巢综合症和高泌乳素血症)占35.34%,是不孕的第二位原因.(3)其它原因引起的(如生殖器畸形、子宫发育不良、子宫内膜异位症、免疫性不孕和遗传等因素)占18.11%.结论 炎症性因素是女性不孕的首要原因.不孕症的治疗必须根据不同的病因,有计划地制订针对性的治疗方案,同时对患者情感的支持以及心理的及时疏导也是必不可少的.     

女性不孕症患者清性激素水平的变化

不孕症是妇科常见病之一 ,近年来有升高的趋势。其致病因素较多 ,有生殖器官因素、免疫因素、输卵管因素、内分泌失调等因素 ,其中以内分泌失调性不孕占的比例最高 ［１］。由于内分泌失调 ,可引起月经紊乱或者闭经。我们应用放射免疫分析法检测３５例月经正常、１０２例月经紊乱的不孕患者的血清ＬＨ、ＦＳＨ、Ｅ２、Ｔ、ＰＲＬ的水平 ,与同个年龄组的健康育龄女性的水平进行比较 ,为临床医师判明不孕症的原因、诊断和治疗 ,提供可靠的指标。材料和方法一、对象 :（一）正常对照组 :在本院体检的健康女性６８例 ,年龄２０～３９岁。（二）…     

西安地区女性生殖道NUC感染与不孕症的相关性研究

目的 为了解女性生殖道淋菌(NG)、解脲支原体(UU)、沙眼衣原体(CT)(以下简称Nuc)感染与原发不孕，继发不孕症相关性。方法 应用多重PCR方法同步检测120例原发不孕、20例继发不孕和100例正常生育并均有生殖道感染的妇女宫颈分泌物中特异性NUC-DNA。结果 原发不孕症组NUC-DNA阳性率分别为NG-DNA：24.17％，UU-DNA;51．67％，CT-DNA：7．5％，NUC总阳性率：63.33％，其中NG、UU、Nuc总阳性率与对照组比较均有高度显著性差异(P＜0．005)。继发不孕组NUC阳性率分别为NG-DNA：20％，UU—DNA：50％，CT—DNA：10％，NUC总阳性率：50％，其中UU阳性率与对照组比较有显著性差异(P＜0.025)。我们的检测结果提示女性生殖道NUC感染中NG和UU是不孕症的原因之一。     

Degree of genetic homozygosity and distribution of AB0 blood types among patients with spina bifida occulta and spina bifida aperta

Introduction

Assuming that spina bifida (SB) is a genetically controlled disease, the aim of our study was to evaluate the degree of genetic homozygosity and the distribution of AB0 blood types among patients with SB occulta and SB aperta by the homozygously recessive characteristics (HRC) test.

Material and methods

Our study included an analysis of the presence, distribution and individual combination of 15 selected genetically controlled morpho-physiological traits in a sample of 100 patients with SB (SB occulta N = 50 and SB aperta N = 50) and a control group of individuals (N = 100).

Results

We found a statistically significant difference between the mean values for genetic homozygosity (SB 4.5 ±0.3; control 3.0 ±0.2, p < 0.001) and also differences in the presence of certain individual combinations of such traits. In 12 (80.0%) of the 15 observed characteristics, recessive homozygosity was expressed to a greater degree among the group of SB patients, while for 9 (60.0%) of the traits this level of difference was statistically significant (Σ_χ ² = 266.3, p < 0.001). There was no difference in average homozygosity of such genetic markers between groups of SB occulta and SB aperta patients, but the type of individual variation in the two studied groups significantly differed. In the group of patients with SB the frequency of 0 blood group was significantly increased while B blood group was significantly decreased.

Conclusions

Our results clearly show that there is a populational genetic difference in the degree of genetic homozygosity and variability between the group of patients with SB and individuals without clinical manifestations, indicating a possible genetic component in the aetiopathogenesis of spina bifida.     

Radiographic method to assess the prevalence of sacral spina bifida occulta

Spina bifida occulta of the sacrum is the most common type of spinal deformity. Many authors have published data on the frequency of spina bifida occulta, with varying results. Some possible reasons for this variability could include the differing methods used to gather data and differing ways of classifying the condition. This study attempts to develop an X-ray method to study sacral spina bifida occulta in a standardized fashion, using an angulated antero-posterior technique. This technique is then used to estimate the frequency of sacral spina bifida occulta in an Australian sample. The sacra of 53 cadavers were X-rayed and the level of closure of the sacral spinal canal recorded. The X-ray technique was validated by open dissection of six of the cadavers studied and was shown to be accurate to half a sacral segment. No sacra with a completely open sacral canal were found, two sacra (4%) were open from S2 down to S5 and ten sacra (19%) were open from S3 down to S5. The most common condition (43%) recorded was where S4 and S5 only were open. Eighteen cadavers (34%) showed only S5 open, and interestingly, no sacra were recorded as having the dorsal sacral arch completely closed. A study of a larger sample will follow using the validated X-ray technique.     

Urinary bladder adenocarcinoma arising in a spina bifida patient

Urinary bladder adenocarcinomas are rare malignancies accounting for approximately 2.5% of all urothelial neoplasms. Intestinal metaplasia of the urothelium indicates the presence of intestinal-type goblet cells and was generally observed to coexist with or to precede the diagnosis of bladder adenocarcinomas. Controversy continues of whether intestinal metaplasia is an acquired precancerous lesion, secondary to different insults to the urothelium, or a concomitant lesion in glandular carcinogenesis. Patients with neurogenic bladders are particularly at risk for developing bladder cancer, mostly squamous cell carcinoma and rarely adenocarcinoma. In these patients, chronic irritation of the urothelium as well as long-term indwelling urinary catheters were the most significant risk factors. Spina bifida is a congenital developmental abnormality that may result in neurogenic bladder. There is only one previously reported case of urothelial carcinoma with associated squamous metaplasia of the bladder occurring in a spina bifida patient. We report the first case of bladder adenocarcinoma associated with intestinal metaplasia occurring in a spina bifida occulta patient. The patient had a complicated clinical course and suffered recurrent urinary tract infections, renal calculi, and urinary incontinence and was managed with intermittent as well as indwelling catheterization.     

Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida

We report a 7-year-old girl with spina bifida carrying a complex chromosome abnormality resulting in duplication 16q12.1-q22.1. An abnormal karyotype was identified involving the long arm of chromosome 11 and fluorescent in situ hybridization (FISH) to metaphase chromosomes revealed an insertion of part of chromosome 16 on chromosome 11. A detailed mapping of the chromosome abnormality using whole genome array based comparative genomic hybridization (CGH) of the patient DNA revealed a duplication 16q12.1-q22.1 corresponding to gain of 19.8Mb of DNA without any detectable loss of genetic material on chromosome 11. The karyotype is defined as 46,XX,der(11)ins(11;16)(q13;q12.1q22.1). We present here the clinical findings and a fine mapping of the associated structural chromosome abnormalities. We suggest that a gene dosage imbalance of 16q12.1-q22.1 is associated with spina bifida in the patient.     

The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida

The methionine synthase reductase (MTRR) enzyme restores methionine synthase (MTR) enzyme activity and therefore plays an essential role in homocysteine remethylation. In some studies, the 66A>G polymorphism in the MTRR gene was associated with increased neural tube defect (NTD) risk. Using a case-control design, we studied the association between the MTRR 66A>G polymorphism and spina bifida risk in 121 mothers, 109 spina bifida patients, 292 control women, and 234 pediatric controls. Possible interactions between the MTRR 66A>G variant and the MTR 2756A>G polymorphism, the MTHFR 677C>T variant, plasma vitamin B12, and plasma methylmalonic acid (MMA) levels were examined in the 121 mothers and 292 control women. Meta-analyses were conducted to set the results of the case-control study in the context of eligible literature on the relation between the MTRR 66A>G variant and NTD risk. Finally, a transmission disequilibrium test was performed for 82 complete mother–father–child triads to test for preferential transmission of the MTRR risk allele. In our case-control study, the MTRR 66A>G polymorphism had no influence on spina bifida risk in children [odds ratio (OR) 0.6, 95% confidence interval (CI) 0.4–1.1]. The MTRR 66GG genotype increased maternal spina bifida risk by 2.1-fold (OR 2.1, 95% CI 1.3–3.3). This risk became more pronounced in combination with the MTHFR 677TT genotype (OR 4.0, 95% CI 1.3–12.5). Moreover, we demonstrate a possible interaction between the MTRR 66GG genotype and high plasma MMA levels (OR 5.5, 95% CI 2.2–13.5). The meta-analyses demonstrated that the maternal MTRR 66GG genotype was associated with an overall 55% (95% CI 1.04–2.30) increase in NTD risk and that the MTRR 66GG genotype did not increase NTD risk in children (OR 0.96, 95% CI 0.46–2.01). These data show that the MTRR 66GG genotype is a maternal risk factor for spina bifida especially when intracellular vitamin B12 status is low.     

The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk

The 894G>T single nucleotide polymorphism (SNP) in the endothelial NOS (NOS3) gene, has recently been associated with embryonic spina bifida risk. In this study, a possible association between the NOS3 894G>T SNP and spina bifida risk in both mothers and children in a Dutch population was examined using both a case-control design and a transmission disequilibrium test (TDT). Possible interactions between the NOS3 894G>T SNP and the MTHFR 677C>T SNP, elevated plasma homocysteine, and decreased plasma folate concentrations were also studied. The NOS3 894TT genotype did not increase spina bifida risk in mothers or children (OR 1.50, 95%CI 0.71–3.19 and OR 1.78, 95%CI 0.75–4.25, respectively). The TDT demonstrated no preferential transmission of the NOS3 894T allele (Χ ² = 0.06, P = 0.81). In combination with the MTHFR 677TT genotype or elevated plasma homocysteine concentrations, the NOS3 894GT/TT genotype increased maternal spina bifida risk (OR 4.52, 95%CI 1.55–13.22 and OR 3.38, 95%CI 1.46–7.84, respectively). In our study population, the NOS3 894GT/TT genotype might be a risk factor for having a spina bifida affected child in mothers who already have an impaired homocysteine metabolism.     

Distribution of affected muscles and degree of neurogenic lesion in patients with spina bifida

Introduction

Patients with spina bifida in the lumbosacral region usually have various degrees of motor and sensory dysfunctions of the lower extremities and anal sphincter. The aim of our study was to evaluate the distribution and differences in frequencies of affected muscles, number of affected muscles and degree of neurogenic lesion between patients with spina bifida occulta (SBO) and spina bifida aperta (SBA).

Material and methods

In 100 patients with SB, 6 muscles in the lower limbs were separately analysed. Due to the number of affected muscles, we evaluated 5 groups of patients: with 1 affected muscle, 2 affected muscles, 3 affected muscles, 4 affected muscles and 5 affected muscles. Three degrees of neurogenic lesions were assessed: mild, moderate and severe.

Results

The tibialis anterior muscle was most frequently affected in SB patients. The outer anal sphincter was frequently affected in the group of SBA patients. Single muscle affection is frequent in the group of patients with SBO, while in the group of patients with SBA, 4 muscles were significantly frequently affected. The great majority of patients (45.46%) with affected outer anal sphincter (OAS) in the group of SBO were without affection of other muscles, while for the SBA group it was for every third patient. Mild neurogenic lesion was significantly frequent in SBO patients, while severe form was significantly frequent in SBA patients.

Conclusions

Patients with SBO usually present with mild to moderate clinical presentation, while multiple root involvement and severe degree of neurogenic lesion is associated more frequently with SBA.     

Decreased methylene tetrahydrofolate reductase activity due to the 677C→T mutation in families with spina bifida offspring

 Periconceptional folate intake reduces both the occurrence and recurrence risk of neural tube defects. Plasma homocysteine levels can be elevated in mothers of a child with a neural tube defect, suggesting a dysfunctional folate metabolism. Very recently we showed that a common 677C→T mutation in the 5,10-methylene tetrahydrofolate reductase gene, causing thermolability of the enzyme, is a risk factor for spina bifida offspring. Restriction enzyme analysis of the genomic 5,10-methylene tetrahydrofolate reductase polymerase chain reaction fragment revealed a significantly higher prevalence of a +/+ genotype among spina bifida patients and their mothers. The risk for spina bifida offspring is the strongest if both the mother and her child have the mutation in the homozygous state. Enzymatic analysis showed that homozygosity for the 677C→T mutation causes a decreased 5,10-methylene tetrahydrofolate reductase activity, resulting in elevated plasma homocysteine and red blood cell folate levels and lowered plasma folate and cysteine values. This extended study demonstrates that a nucleotide substitution in the coding region of 5,10-methylene tetrahydrofolate reductase, resulting in reduced activity and an impaired homocysteine and folate metabolism, is a genetic risk factor for spina bifida. Received: 24 May 1996 / Accepted: 14 August 1996     

Physical status and psychosocial adjustment in children with spina bifida

Investigated the relationship between the physical status and psychosocial adjustment of chronically physically handicapped children. The status of 61 children with spina bifida regarding six specific disease or disability parameters was determined from medical charts. Their mothers completed the Child Behavior Checklist as a measure of the children's psychosocial adjustment. Children with spina bifida were reported to display on the average significantly more behavior and social competence problems than expected for children in general. However, children with differing degrees of physical problems and disability did not differ significantly in their psychosocial adjustment. The general lack of relationship between physical status and adjustment as it relates to a conceptual model guiding this research is discussed.