Objective To analyze the fetal chromosomal karyotypes in prenatal diagnosis and the relationship between abnormal karyotypes and the indications of prenatal diagnosis. Methods Fetal chromosomal karyotypes were examined in 247 pregnant women (16 to 28 weeks' gestation) by amniocentesis. Results 14 abnormal chromosomal karyotypes were detected, the abnormal rate was 5.67%. Trisomy was the major abnormality, it was 7out of 14(50%), including 4 trisomy 21(42.86%)?2 trisomy 18(28.57%)?1 trisomy 13(14.28%).Balanced translocation was found in 6 fetuses, the frequency was 42.86%. In 18 pregnant women aged over 35 years,1 (5.56%) with trisomy 21 was detected, and 3 of trisomy 21 were in 229 pregnant women aged under 35 years (1.31%,P=0.235). 3 Trisomy were detected in 15 fetuses with ultrasonographic suspected abnormalities. Conclusions During the second trimester, in the pregnant women who had different indications for prenatal diagnosis, the rate of chromosomal abnormality was 5.67%. Trisomy was the most common abnormal karyotype. As one method of prenatal screening, ultrasound in the second trimester could increase the antenatal detection rate of fetal chromosomal abnormality.

Objective To investigate the effect of methylation of the APC gene on expression and the correlation with clinical data in pancreatic cancer.Methods Sixty postoperative tissue samples with pancreatic cancer were collected in the First Affiliated Hospital of Zhengzhou University from August 2010 to January 2011,20 benign pancreatic disease tissues were collected as control groups.APC promoter methylation and gene expression levels were detected by Methylation Specific PCR (MSP),Real Time PCR (RT-PCR) and Western blot in 60 pancreatic carcinoma,42 metastasis and 20 benign pancreatic disease tissues,then analyze the relation between methylation of the APC gene and the clinical data.Results APC promoter methlation was observed 48.53％,46.67％ and 1.16％ in pancreatic carcinoma,metastasis and benign pancreatic disease tissue,respectively.Methylation of APC in pancreatic carcinoma and metastasis increased significantly compared with control tissues (x2 =12.903,14.402; P ＜ 0.05).There were no statistically significant differences of APC expression in these tissues (P ＞ 0.05).There was a significant correlation between methylation of APC and clinicopathological stage (x2 =6.801,P ＜ 0.05),but no correlation with gender,age,tumor size,histological grade and metastasis (x2 =0.727,1.311,0.372,0.148,0.017 ; P ＞ 0.05).Conclusion The methylation of APC gene is closely related with pancreatic carcinoma inogenesis and the clinicopathological stage,but do not effect the expression of APC in tissues.

Objective To investigate the association between the minisatellite polymorphism in the first exon of PLA2G4C gene and schizophrenia, and to reveal the important role of DNA sequence polymorphism in the pathogenesis of schizophrenia.Methods The minisatellite polymorphisms in the first exon of PLA2G4C gene in 91 patients with schizophrenia (case group)and 81 healthy persons (control group)were detected with PCR-sequencing analysis.The chi-square (χ2 )goodness-of-fit test was used to analyze the distribution of the PLA2G4C minisatellite polymorphism in various groups and to explore the association between the minisatellite polymorphism in the first exon of PLA2G4C gene and schizophrenia. Results There were minisatellite polymorphisms in PLA2G4C gene.Three kinds of polymorphisms 1×27 bp,2×27 bp and 3×27 bp were found by sequencing.The distribution of allelic frequencies at PLA2G4C polymorphism showed no statistical significance between case group and control group (P>0.05 ). No statistically significant difference was found in 3-homozygous haplotypes in PLA2G4C gene between case group and control group (P>0.05).At the same time,there was no statistically significant difference between 3-heterozygous haplotypes in PLA2G4C gene between case group and control group (P>0.05).Conclusion The minisatellite polymorphisms in the first exon of PLA2G4C gene are found,but the minisatellite polymorphism in the first exon of PLA2G4C gene may be not associated with the occurrence of schizophrenia.

Objective:To analyze the incidence and characteristics of neonatal abnormal hemoglobinopathy in Wuhan and its surrounding areas.Methods:Dry blood spot samples of newborns (born from January 2020 to June 2021) sent to Hubei Neonatal Disease Screening Center were tested by hemoglobin capillary electrophoresis, and the newborns with abnormal hemoglobin bands were further tested for gene and statistically analyzed.Results:A total of 51 348 samples of neonatal dry blood spots were collected. According to electrophoresis analysis, abnormal bands were detected in 127 cases, and 78 cases were recalled for genetic test, the recall rate was 61.42%. Among them, 42 cases were diagnosed as abnormal hemoglobinopathy. Calculated according to the recall ratio, the detection rate of abnormal hemoglobinopathy was 0.13%. There were 11 cases of α-globin chain structural variation, most often were 3 cases of Hb Queens (27.27%) and 2 cases of Hb I (18.18%); moreover, there were 31 cases of β-globin chain structural variation, among which 11 cases of Hb J-Bangkok (35.48%), 8 cases of Hb E (25.81%) and 7 cases of Hb New York (22.58%) appeared more frequently. Among the 13 kinds of abnormal hemoglobins found, Hb I was located in N13/N(Bart) zone; Hb J-Bangkok and Hb J-Meerut were located in N12 zone; Hb New York and Hb Shenyang were located in N11 zone; Hb G-Coushatta, Hb G-Taipei and Hb Port Phillip were located in N5/N(D/G/K) zone; Hb Queens, Hb G-Honolulu and Hb Ottawa were located in N4/N(S) zone; Hb Montgomery and Hb E were located in N3/N (E) zone.Conclusion:The incidence of neonatal abnormal hemoglobinopathy in Wuhan and its surrounding areas is low, and main type of abnormal hemoglobin is β-globin chain structural variation.

OBJECTIVETo investigate the effects of p57(kip2) and cyclinE proteins on the genesis and progression of human pancreatic cancer.

METHODSThe expression of p57(kip2) and cyclinE proteins in tumor tissues and adjacent tissues of pancreatic cancer in 32 patients was detected by SP immunohistochemical technique.

RESULTSThe p57(kip2) protein positive-expression rate in tumor tissues of pancreatic cancer was 46.9%, which was lower than that in adjacent pancreatic tissue (P < 0.05). The p57(kip2) protein positive-expression correlated significantly with tumor cell differentiation (P < 0.05) and did not correlate significantly with lymph node metastasis (P > 0.05). The cyclinE positive-expression rate in tumor tissues was 68.8%, which was higher than that in adjacent pancreatic tissues (P < 0.05). The cyclinE positive-expression also correlated significantly with tumor cell differentiation and lymph node metastasis (P < 0.05). The cyclinE protein positive-expression rate in the tumor tissues of the p57(kip2) protein positive-expression group was lower than that in the p57(kip2) protein negative-expression group, and there were no significant correlation between the two groups (r = -0.112, P > 0.05).

CONCLUSIONDecreased expression of the p57(kip2) protein and/or over-expression of the cyclinE protein may play an important role in the genesis and progression of human pancreatic cancer.

Adult ; Aged ; Cyclin E ; analysis ; Cyclin-Dependent Kinase Inhibitor p57 ; Female ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Nuclear Proteins ; analysis ; Pancreatic Neoplasms ; chemistry ; pathology

Objective To evaluate the feasibility of utilizing dose-volume histogram (DVH) prediction models of organs at risk (OARs) to deliver automatic treatment planning of prostate cancer.Methods The training set included 30 cases randomly selected from a database of 42 cases of prostate cancer receiving treatment planning.The bladder and rectum were divided into sub-volumes (Ai) of 3 mm in layer thickness according to the spatial distance from the boundary of planning target volume (PTV).A skewed normal Gaussian function was adopted to fit the differential DVH of Ai,and a precise mathematical model was built after optimization.Using the embedded C++ subroutine of Pinnacle scripa,ahe volume of each Ai of the remaining validation set for 12 patients was obtained to predict the DVH parameters of these OARa,ahich were used as the objective functions to create personalized Pinnacle script.Finalla,automatic plans were generated using the script.The dosimetric differences among the original clinical plannina,aredicted value and the automatic treatment planning were statistically compared with paired t-test.Results DVH residual analysis demonstrated that predictive volume fraction of the bladder and rectum above 6 000 cGy were lower than those of the original clinical planning.The automatic treatment planning significantly reduced the V70,V60,V50 of the bladder and the V70 and V60 of the rectum than the original clinical planning (all P＜0.05),the coverage and conformal index (CI) of PTV remained unchangea,and the homogeneity index (HI) was slightly decreased with no statistical significance (P＞ 0.05).Conclusion The automatic treatment planning of the prostate cancer based on the DVH prediction models can reduce the irradiation dose of OARs and improve the treatment planning efficiency.

Objective:To study the genetic variation and distribution characteristics of thalassemia in people of childbearing age in Hubei Province, and to provide clinical basis for the local government decision-making departments to formulate and promote appropriate policies for prevention and control of thalassemia.Methods:Venous blood samples were collected from 44 849 people of childbearing age in hospitals in Hubei Province from May 13, 2019 to August 17, 2021. PCR-flow fluorescence hybridization and PCR+diversion hybridization were used to screen thalassemia genes. Spouses of those who tested positive were also tested for thalassemia genes. When both spouses carried the same type of thalassemia gene, the amniotic fluid of pregnant women was extracted for prenatal diagnosis and followed up.Results:Among the 44 849 people of childbearing age, 2 286 cases were diagnosed as thalassemia gene carriers through genetic testing, and the total detection rate was 5.10% (2 286/44 849). Among them, 1 488 cases were diagnosed as α-thalassemia, and the detection rate was 3.32% (1 488/44 849); 767 cases were diagnosed as β-thalassemia, and the detection rate was 1.71% (767/44 849); 31 cases were diagnosed as α-thalassemia combined with β-thalassemia, and the detection rate was 0.07% (31/44 849). The top three genotypes of α-thalassemia were -α 3.7/αα, -- SEA/αα, and -α 4.2/αα, accounting for 58.06% (864/1 488), 26.14% (389/1 488), and8.74% (130/1 488), respectively. The top three genotypes of β-thalassemia were β IVS-Ⅱ-654/β N, β CD41-42/β N, and β CD17/β N, accounting for 41.72% (320/767), 21.25% (163/767), and 16.04% (123/767), respectively. The main genotypes of α-thalassemia combined with β-thalassemia were -α 3.7/αα complex β IVS-Ⅱ-654/β N and -α 3.7/αα complex β CD41-42/β N, accounting for 29.03% (9/31) and 16.13% (5/31), respectively. A total of 59 people of childbearing age were conducted prenatal diagnosis, among fetus, there were 4 cases of severe thalassemia (2 cases of severe α-thalassemia, 2 cases of severe β-thalassemia), 5 cases of intermediate α-thalassemia, 5 cases of intermediate or severe β-thalassemia, 19 cases of mild thalassemia (8 cases of mild α-thalassemia, 11 cases of mild β-thalassemia), 13 cases of stationary α-thalassemia, and 1 case of stationary α-thalassemia combined with mild β-thalassemia, there were 12 cases without α-thalassemia or β-thalassemia genes. After follow-up, 4 cases of severe thalassemia, 2 cases of intermediate α-thalassemia, and 5 cases of intermediate or severe β-thalassemia were terminated pregnancy by the joint decision of both parents. Conclusions:In Hubei Province, the detection rate of thalassemia is high, and α-thalassemia is the main mutation type. The combination of thalassemia gene screening and prenatal diagnosis is of great significance in reducing the birth rate of children with thalassemia.

Objective: To study the dosage regimen of oral M-receptor blocker following transurethral resection of the prostate (TURP) for severe benign prostate hyperplasia (BPH) with predominant urine storage period symptoms (USPSs) and its clinical effect. METHODS: Severe BPH patients with predominant USPSs received oral tolterodine (2 mg q12d or 4 mg qd) 6 hours after TURP for 4 weeks. The medication continued for another 2 weeks in case of recurrence of USPSs or until the 12th week in case of repeated recurrence. Before and at 1, 4, 8 and 12 weeks after TURP, we analyzed the International Prostate Symptoms Score (IPSS), quality of life (QoL) score, maximum urinary flow rate (Qmax), and postvoid residual volume (PVR) of the patients. RESULTS: Complete clinical data were collected from 106 cases, of which 33 achieved successful drug withdrawal with no aggravation of USPSs at 4 weeks after TURP, 51 at 6－8 weeks, 13 at 10－12 weeks, and 9 needed medication after 12 weeks. Before and at 1, 4, 8 and 12 weeks after TURP, the total IPSSs were 25.33 ± 3.45, 19.33 ± 3.62, 11.56 ± 2.45, 8.38 ± 2.0 and 7.74 ± 1.87, those in the urine storage period were 11.97 ± 1.53, 10.76 ± 1.82, 6.16 ± 1.22, 4.08 ± 1.19 and 3.91 ± 1.15, those at urine voiding were 9.80 ± 1.60, 5.59 ± 1.45, 3.40 ± 0.92, 2.85 ± 0.71, and 2.61 ± 0.67, and the QoL scores were 4.70 ± 0.78, 3.92 ± 0.75, 2.55 ± 0.74, 1.83 ± 0.72 and 1.66 ± 0.75, respectively, with statistically significant differences between the baseline and the scores at 1 and 4 weeks (P <0.01) but not at 8 or 12 weeks (P >0.05). Qmax and PVR were improved progressively and significantly at 1 and 4 weeks (P <0.01) but not at 8 or 12 weeks (P >0.05). CONCLUSIONS Four to eight weeks of oral administration of M-receptor blocker may be an effective dosage regimen for severe BPH with predominant USPSs after TURP.
Administration, Oral ; Clinical Protocols ; Drug Administration Schedule ; Humans ; Male ; Muscarinic Antagonists ; administration & dosage ; Postoperative Care ; Prostatic Hyperplasia ; drug therapy ; surgery ; Quality of Life ; Recurrence ; Tolterodine Tartrate ; administration & dosage ; Transurethral Resection of Prostate ; Treatment Outcome ; Urination ; Urological Agents ; administration & dosage

Objective To compare the cumulative analgesic effects of electroacupuncture at Sanyinjiao (SP6), Xuanzhong (GB39) and non-acupoint in treating primary dysmenorrhea. Method By adopting a multi-centered randomized controlled study method, 501 patients recruited from Dongzhimen Hospital of Beijing University of Chinese Medicine, China-Japan Friendship Hospital, Beijing Hospital of Traditional Chinese Medicine of Capital Medical University, First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Huguosi Hospital of Chinese Medicine of Beijing University of Chinese Medicine and the Outpatient of Shandong University of Traditional Chinese Medicine were randomized into a Sanyinjiao group, a Xuanzhong group, and a non-acupoint group, 167 subjects in each group. The electroacupuncture intervention was applied when dysmenorrhea flared up and the Visual Analogue Scale (VAS) ≥40 mm, with frequency at 2/100 Hz and intensity during patient’s endurance, 30 min each time, once a day, and for successive 3 d. Before the first treatment, 30 min after the first treatment, and respectively prior to the second and third treatment, VAS was used to measure the pain intensity. Meanwhile, the Retrospective Symptom Scale (RSS-COX 2) was investigated before the first treatment, right after the removal of needles for the first treatment, before the second and third treatment. Result The decrease of VAS in Sanyinjiao group was more significant than that in Xuanzhong group and non-acupoint group (MD=﹣2.92 mm, P=0.028; MD=﹣3.47 mm, P=0.009), while there was no significant difference between Xuanzhong group and non-acupoint group (MD=﹣0.56 mm, P=0.674); there were no significant differences in comparing the RSS-COX2 total score among the three groups (P=0.086). Conclusion Sanyinjiao (SP6) can produce a more significant cumulative analgesic effect for primary dysmenorrhea patient than Xuanzhong and non-acupoint, and the effects of Xuanzhong and non-acupoit are equivalent.