CT-guided diagnosis of banded vs membranaceous adhesive small bowel obstruction / 中华普通外科杂志

Objectives:To study the computed tomography features of banded adhesions(BA) and matted adhesions(MA) of adhesive small bowel obstruction(ASBO).Methods:We enrolled 150 patients operated on for ASBO. According to intraoperated findings, ASBO were classified into those caused by BA or MA. A multivariable logistic regression was established to analyze independent risk factors on Computed Tomography features.Results:There were significant differences in closed-loop sign (36.8% vs. 14.3%, P=0.002) mesenteric haziness (43.7% vs. 17.5%, P=0.001), beak sign (48.3% vs. 17.5%, P<0.001), fat notch sign (39.1% vs. 9.5%, P<0.001) and peritoneal fluid (54.0% vs. 34.9%, P=0.015) between the two groups. The presence of beak sign [ OR=6.15, 95% CI (2.55-14.84), P<0.001], fat notch sign [ OR=6.19, 95% CI (2.16-17.82), P=0.001] and mesenteric haziness [ OR=3.34, 95% CI (1.34-8.32), P=0.009] were independent risk factors with BA. Conclusion:Beak sign, fat notch sign and mesenteric haziness were independent risk factors for diagnosing BA.

Molecular cytogenetic study of a case with ring chromosome 15 / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a patient featuring developmental delay.@*METHODS@#The patient and her parents were subjected to G- and C-banded chromosomal karyotyping analysis. The proband was also analyzed by single nucleotide polymorphism microarray (SNP-array). The result was verified by using fluorescence quantitative PCR (qPCR).@*RESULTS@#The proband's karyotype was ascertained as 46,XX, r(15)(p11.2q26.3)[92]/45,XX,-15[9]/46,XX, dic r(15)(p11.2q26.3;p11.2q26.3)[4]. SNP-array revealed that she has carried a de novo deletion at 15q26.3 (98 957 555-102 429 040) spanning approximately 3.4 Mb, which encompassed the IGF1R gene. qPCR has confirmed haploinsufficiency of exons 3, 10 and 20 of the IGF1R gene. Both of her parents had a normal karyotype.@*CONCLUSION@#The abnormal phenotype of the proband may be attributed to the microdeletion at 15q26.3, in particular haploinsuffiency of the IGF1R gene and instability of the ring chromosome. Cytogenetic method combined with SNP-array and qPCR can efficiently delineate chromosomal aberrations and provide accurate information for clinical diagnosis and genetic counseling.

Genetic study of a child with developmental delay and mental retardation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with developmental delay and mental retardation.@*METHODS@#Chromosomal karyotype of the child was analyzed by G-, C- and N-banding techniques. Her genome DNA was analyzed with single nucleotide polymorphisms array (SNP array). The result was validated by fluorescence quantitative polymerase chain reaction (PCR).@*RESULTS@#The karyotype of the child was ascertained as 46,XX,r(22)(p12q13). SNP array has revealed a deletion of approximately 1.4 Mb at 22q13.33 (49 802 963-51 197 766). The deletion has encompassed the SHANK3, a crucial gene for the development of nervous system. Fluorescence quantitative PCR has confirmed the deletion of exons 7, 19 and 22 of the SHANK3 gene.@*CONCLUSION@#The phenotype of the patient may be attributed to the microdeletion at 22q13.33. Cytogenetic methods combined with SNP array and fluorescence quantitative PCR can identify aberrant chromosomes and provide accurate information for the clinical diagnosis and genetic counseling.

Application of high-throughput whole genome sequencing and STR typing for the analysis of chorea villus tissue samples from spontaneous abortion / 中华医学遗传学杂志

OBJECTIVE@#To apply high-throughput whole genome sequencing (WGS) and short tandem repeat (STR) typing to detect aneuploidies, heteroploidies and copy number variations(CNVs) in spontaneous abortic tissues.@*METHODS@#Chorionic villus samples from 145 patients with spontaneous abortion were subjected to detection of aneuploidies, heteroploidies and copy number variations by WGS and STR typing.@*RESULTS@#All testing was successful and the rate of chromosomal abnormalities among the patients was 22.07%. Among these, there were 11 trisomies, 3 monosomies, 2 triploidies, 5 autosomal mosaicisms, 4 sex chromosomal mosaicisms, 7 structural abnormalities (including 1 mosaicism). In 89 cases, there were 130 CNVs of uncertain significance, 47 likely benign CNVs, and 2 loss of one copy of pathogenic AR gene. One sample contained 6 fragment duplications and deletions. Only 24 samples had no abnormal finding.@*CONCLUSION@#The most important reason for spontaneous abortions is embryonic chromosomal abnormality. Combined STR typing and WGS is both comprehensive and fast, and may become a major means for the detection of chorionic villi tissue from spontaneous abortions.

Application of high-throughput whole genome sequencing and STR typing for the analysis of chorea villus tissue samples from spontaneous abortion / 中华医学遗传学杂志

Objective@#To apply high-throughput whole genome sequencing (WGS) and short tandem repeat (STR) typing to detect aneuploidies, heteroploidies and copy number variations(CNVs) in spontaneous abortic tissues.@*Methods@#Chorionic villus samples from 145 patients with spontaneous abortion were subjected to detection of aneuploidies, heteroploidies and copy number variations by WGS and STR typing.@*Results@#All testing was successful and the rate of chromosomal abnormalities among the patients was 22.07%. Among these, there were 11 trisomies, 3 monosomies, 2 triploidies, 5 autosomal mosaicisms, 4 sex chromosomal mosaicisms, 7 structural abnormalities (including 1 mosaicism). In 89 cases, there were 130 CNVs of uncertain significance, 47 likely benign CNVs, and 2 loss of one copy of pathogenic AR gene. One sample contained 6 fragment duplications and deletions. Only 24 samples had no abnormal finding.@*Conclusion@#The most important reason for spontaneous abortions is embryonic chromosomal abnormality. Combined STR typing and WGS is both comprehensive and fast, and may become a major means for the detection of chorionic villi tissue from spontaneous abortions.

Diagnosis of a case with partial 9p trisomy by next generation sequencing / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic cause for a child featuring growth and mental retardation.@*METHODS@#Following conventional karyotyping analysis of the trio family, next generation sequencing (NGS) was carried out to explore the origin of the supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) was used to confirm the result.@*RESULTS@#The karyotypes of both parents were normal, while the proband was found to be 47,XX,+mar. NGS showed that the supernumerary marker has originated from chromosome 9p13.1p24.3 with a size of 39.77 Mb. FISH has confirmed the above finding.@*CONCLUSION@#The 9p13.1-p24.3 trisomy probably underlies the abnormal phenotypes of the child. Cytogenetic analysis combined with NGS and FISH can provide accurate diagnosis for such disorders.

Application of next generation sequencing for the analysis of patients with spontaneous abortion / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the value of next generation sequencing (NGS) for the analysis of spontaneous abortion samples.</p><p><b>METHODS</b>The NGS analysis was carried out on 85 chorionic villi samples (taken between 42 days to 12 weeks of gestation) for which conventional cell culture has failed or chromosomal karyotyping has yielded normal or uncertain result.</p><p><b>RESULTS</b>Among 68 samples with a normal karyotype, the NGS analysis has identified 2 copy number variations (CNVs) and 2 chimeras. For 16 cases with failed cell culture, the NGS has identified 4 chromosomal abnormalities including 1 copy number variation and 3 numerical chromosomal aberrations. For 1 remaining case with uncertain karyotyping result, the NGS analysis has verified it as 46,XX,del(4) (p15.1p16.3).seq[GRCh37/hg19] (57 549 - 32 371 364)×1.</p><p><b>CONCLUSION</b>The NGS analysis is capable of identifying novel CNVs in samples for which conventional cell culture may fail or karyotyping analysis may yield a normal result.</p>

Obstetrical complications of thyroid peroxidase antibody positive during pregnancy and effects of intervention:a meta-analysis / 中华妇产科杂志

Objective To explore the correlation between thyroid peroxidase antibody (TPOAb) and outcomes during pregnancy and the effects of treatment on outcomes. Methods PubMed, Cochrane Library, Science Direct, Embase, Chinese Biomedicine, and Wanfangdata had been searched. Case-control and cohort studies about TPOAb and pregnancy outcomes were searched according to the inclusion and exclusion criteria. Fifty studies were finally recruited (all of cohort-studies, 10 for English and 5 for Chinese). Review Manager 5.3 were used to test the heterogeneity of the results among the different studies and amalgamate the effect size using fixed or random effect models. Results Meta-analysis showed TPOAb (+)with normal thyroid function increase the risks of miscarriage,and premature delivery, OR calculated were 2.02(95%CI:1.13-3.62, P=0.001)and 1.39(95%CI:1.11-1.76, P=0.005), while showed no relative risk to hypertensive disease,placental abruption in pregnancy and fetal growth restriction, OR calculated were 1.29(95%CI:1.00-1.67, P=0.080),0.42(95%CI:0.12-1.43, P=0.210)and 1.61(95%CI:0.23-11.12, P=0.100). TPOAb(+)with normal thyroid function increase miscarriage in in vitro fertilization and embryo transfer (IVF-ET), OR calculated were 2.14(95%CI:1.43-3.21, P=0.000). Levothyroxine (LT4) for patients of TPOAb(+)with normal thyroid dysfunction decrease adverse obstetric outcomes, OR calculated were 0.43(95%CI:0.22-0.85, P=0.020). Conclusions TPOAb(+)with normal thyroid function increase the risks of miscarriage,and premature delivery. TPOAb(+) with normal thyroid function increase miscarriage in IVF-ET. LT4 for patients of TPOAb(+)with normal thyroid dysfunction decrease adverse obstetric outcomes.

Composite prevention strategy for shoulder dystocia: meta-analysis / 中华妇产科杂志

Objective To investigate the composite prevention strategy for shoulder dystocia.Methods The published articles of randomized controlled trial (RCT)of comparison about the prevention of shoulder dystocia were searched in PubMed,EMBASE,EBSCO databases and Cochrane Library,and these studies were screened under inclusion and exclusion criteria.The quality of included studies were evaluated.And the Meta-analysis using statistic software RevMan 5.1 was completed.Results Totally 16 articles,all English published with no one Chinese article being searched out,were included in this analysis,published from 1993 to 2009.(1)To the gestational diabetes mellitus (GDM)patients,reviewed from 2 articles,it was found that the incidence of shoulder dystocia was reduced significantly by prenatal intervention versus usual care (OR=0.40,95％ CI:0.21-0.75,P=0.004).(2)To the GDM patients with intensive prenatal intervention,reviewed form 5 articles,it was found that the incidence of shoulder dystocia was reduced significantly by intensive intervention (diet control combined with insulin if necessary)versus less intensive intervention (only diet control),OR=0.29 (95 ％ CI:0.11-0.73,P=0.009).(3) To the non-GDM patients with suspected macrosomia,reviewed from 4 articles,it was found that the incidence of shoulder dystocia was not reduced by early artificial induction of parturition (OR=0.85,95 ％ CI:0.41-1.75,P=0.660).(4)To the GDM patients,reviewed form 2 articles,it was found that the incidence of shoulder dystocia was reduced marginal significantly by artificial induction of parturition in 38-39 gestational weeks compared with all spontaneous parturition patients (OR=0.18,95 ％ CI:0.03-0.97,P=0.050) and significantly reduced when compared with those spontaneous parturition patients after 40 gestational weeks (OR=0.13,95 ％ CI:0.02-0.75,P=0.020).(5)To the GDM patients with suspected macrosomia,reviewed from only one article,it was found that the incidence of shoulder dystoeia was reduced marginal significantly by early artificial induction of parturition (OR=0.34,95 ％ CI:0.12-0.99,P=0.050).(6)Reviewed from 2 articles,it was found that the incidence of shoulder dystocia was not significantly reduced by the intrapartum prophylactic maneuvers (OR=0.44,95％ CI:0.16-1.18,P=0.100).Conclusion Some varieties of intervention for the high risk patients could reduced the occurrence of shoulder dystocia.

Clinical or subclinical hypothyroidism and thyroid autoantibody before 20 weeks pregnancy and risk of preterm birth: a systematic review / 中华妇产科杂志

Objective To evaluate the relationship between clinical or subclinical hypothyroidism and positive thyroid autoantibody before 20 weeks pregnancy and risk of preterm birth.Methods Literature search was done in PubMed,EMBASE,Wanfang Medical Database,China Academic Journal Network Publishing Database and China Biology Medicine disc databases from January 1st,1980 to December 31th,2013.The following search terms were used:hypothyroidism,subclinical hypothyroidism,hypothyroxinnism,thyroid antibody,preterm labor,preterm birth,etc.(1) Criteria for inclusion:cohort studies and clinical studies were included; only articles that described at least l0 patients were eligible;the exposure was clinical or subclinical hypothyroidism and positive thyroid autoantihody,and outcome was preterm birth.(2) The excluded subjects were articles that described less than 10 patients; controls were pregnant women without eurothyrodisim.Meta-analysis was performed by RevMan 5.The relationship between clinical or subclinical hypothyroidism and positive thyroid autoantibody and risk of preterm birth was evaluated by OR or RR.Results (1) Twenty cohort studies were enrolled.A total of 39 596 cases of preterm birth occurred among 498 418 pregnant women.The controls in these studies were pregnant women with eurothyrodisim.(2) Clinical hypothyroidism in pregnancy:eight studies were included,reported data on 478 418 pregnant women (5 473 women with clinical hypothyroidism and 472 945 euthyroid pregnant women).The risk of preterm birth in pregnant women with clinical hypothyroidism was higher than those eurothyroid pregnant women in control group (OR=1.25,95％ CI:1.15-1.36,P＜0.01).(3) Subclinical hypothyroidism in pregnancy:ten studies were included,reported data on 277 531 pregnant women (5 257 women with subclinical hypothyroidism and 272 274 euthyroid pregnant women).The risk of preterm birth in pregnant women with subclinical hypothyroidism was higher than those in control group by random effects analysis (OR=1.25,95％ CI:1.14-1.36,P＜0.01).(4) Thyroid autoantibodys positive in pregnancy:eleven studies were included,reported data on 28 781 pregnant women (3 036 women with thyroid autoanti body positive and 25 745 euthyroid pregnant women).The risk of preterm birth in pregnant women with positive thyroid autoantibody was higher than those negative thyroid autoantibody in control group (OR=1.47,95％ CI:1.27-1.70,P＜0.01).The funnel plots presented symmetrical graphics,indicating that there was no publication bias.Conclusion Clinical or subclinical hypothyroidism and positive thyroid autoantibody in pregnant women is risk factors of preterm birth.

Effect of the serum testosterone/estradiol ratio alteration on sperm defect and fertility / 中华泌尿外科杂志

Objective To study the effect of the serum testosterone/estradiol ratio (T/E2) alteration on sperm defect and fertility. Methods The testosterone, estradiol, FSH, LH, PRL,sperm parameters and sperm morphology of 90 men were analyzed and the T/E2 and multiple anomalies index (MAI) were calculated. The patients were divided into 3 groups; T/E2≤10 (Ⅰ), T/E2＞10 (Ⅱ), and T/E2＞20 (Ⅲ). Results The sperm concentration and motility among the 3 groups were not significantly different (P＞0. 05). The percentages of the sperm whose head, neck and tail were abnormal declined gradually with the increase of the T/E2 in serum. The percentage of sperm head defeet of group Ⅰ was significantly higher than that of group Ⅲ (t=2. 482, P=0. 016) and that of sperm neck defect of groups Ⅰ and Ⅱ were significantly higher than that of group Ⅲ (t=4.113, 2. 050, P=0.000, 0. 046, respectively). The percentage of sperm tail defect among 3 groups was significantly different (t=2. 722, 3. 996, 3. 110, P=0. 008, 0. 000, 0. 003, respectively). The SDI of group Ⅱ was significantly higher than that of group Ⅰ (t= -2. 293, P= 0. 025). But the TZI increased gradually with the increase of the serum T/E2 and the TZI of groups Ⅱ and Ⅲ were significantly higher than that of group Ⅰ (t=2. 285, 2. 727, P=0. 025, 0. 009, respectively). The percentage of the men in group Ⅰ whose partners became pregnant was 29. 5% and those of groups Ⅱ and Ⅲ were 50% and 42.9%, respectively. Although the percentage among three groups was not different statistically (x2 = 3. 285, 0. 854, 0. 199, P= 0. 070, 0. 355, 0. 655, respectively), the relative risks of groups Ⅱ and Ⅲ were 2.4 and 1.8 times of that of group Ⅰ. There were 25, 15, 7 cases of idiopathic infertility among the 3 groups, respectively. The relative risk of I group was 1.5 and 1.3 times of that of Ⅱ and Ⅲ groups. The correlation analysis showed that the T/E2 in serum had significantly negative correlation with the percent of the sperm head or neck or tail defects (r= -0. 209, -0. 316 and -0. 335,respectively and P= 0. 048, 0. 002 and 0. 001, respectively). Conclusions The decrease of T/E2 in serum was correlative with the decrease of fertility probability, but it did not alter the sperm density and the sperm motility. It showed that the level of the T/E2 in serum was important for spermatogenesis and sperm fertilizing capability.

Changes of semen quality in uremia patients / 中华男科学杂志

<p><b>OBJECTIVE</b>To evaluate the changes of the semen quality in uremia patients before renal transplantation.</p><p><b>METHODS</b>The semen of 24 patients with uremia and 12 normal volunteers was analyzed.</p><p><b>RESULTS</b>The semen volume, sperm motility, survival rate, density and morphological normality percentage were (2.5 +/- 0.4) ml, (13.4 +/- 3.9)%, (25.4 +/- 5.6)%, (20.6 +/- 4.5) x 10(6)/ml and (16.8 +/- 2.1)%, respectively, significantly lower than those of the normal group (P < 0.01).</p><p><b>CONCLUSION</b>Semen qualities were lowered significantly and spermatogenesis severely affected in patients with uremia.</p>