Prenatal diagnosis and genetic analysis of a fetus with der(X)t(X;Y)(p22.3;q11.2) / 中华医学遗传学杂志

OBJECTIVE@#To explore the pathogenesis and genetic characteristics of a fetus with a der(X)t(X;Y)(p22.3;q11.2) karyotype.@*METHODS@#G-banding karyotyping analysis, BoBs (BACs-on-Beads) assay, and single nucleotide polymorphism array (SNP-array) were used to delineate the structural chromosomal aberration of the fetus. The parents of the fetus were also subjected to karyotyping analysis.@*RESULTS@#The fetus and its mother were both found to have a karyotype of 46,X,add(X)(p22), while the father was normal. BoBs assay indicated that there was a lack of Xp22 but a gain of Yq11 signal. SNP-array confirmed that the fetus and its mother both had a 7.13 Mb deletion at Xp22.33p22.31 (608 021-7 736 547) and gain of a 12.52 Mb fragment at Yq11.221q11.23 (16 271 151-28 788 643).@*CONCLUSION@#The fetus was determined to have a karyotype of 46,X,der(X)t(X;Y)(p22.3;q11.2)mat. The combined use of various methods has facilitated delineation of the fetal chromosomal aberration and prediction of the risk prediction for subsequent pregnancy.

Study of relationship of an androgen receptor CAG repeat polymorphism with postmenopausal osteoporosis / 中华老年医学杂志

Objective To study the relationship between a CAG repeat polymorphism of the androgen receptor (AR) gene and postmenopausal osteoporosis (PMO). Methods Genotypes for the AR polymorphisrn were determined by gene scan and DNA sequence methods in a case-control study,including 78 cases of PMO at femoral neck and 73 cases as controls, and 108 cases of PMO at lumbar spine (L2-4) and 60 cases as controls. Bone mineral density for the proximal femur and L2-4 was measured by NORLAND XR-46 dual-energy X-ray absorptiometry. The relationship between the CAG repeat polymorphism and PMO was investigated. Results Eleven different allelic variants,containing 18, 20, 21, 23, 24, 25, 26, 27, 28, 29, and 30 CAG repeats were detected, 16 genotypes were present in the subjects. There were no significant differences in the genotype and allele distributions of (CAG) n polymorphism between PMO group (SS : 25.6 %, SL : 39.7%, LL : 34.6 % ;S:45.5%,L:54.5%) and control group (SS: 23.3%,SL=45.2% ,LL:31.5%;S:45.9%,L:54.1%) at the femoral neck site (all P＞0.05). The risk of PMO at femoral neck in females with the genotypes of SL (0R:0.798,95%CI:0.335～1.797), the LL (0R:0.998,95%CI:0.425～2.341), and the combined SL and LL (OR:0.880, 95% CI: 0.419～1.852) were not significantly increased in comparison with those of females with the SS genotype (all P＞0.05). There were no significant differences in the genotype and allele distributions of (CAG)n polymorphism between PMO group(SS: 18.5%, SL: 49.1%, LL: 32.4%;S:43.1%, L: 56.9%) and control group (SS: 21.7%, SL:45.0% ,LL:33.3% ;S:44.2% ,L:55.8%) at the L2-4 site (P＞0. 05). The risk of PMO at L2-4 in females with the genotypes of SL (OR:1. 276,95%CI:0. 552～2. 950), the LL (OR:1. 137,95%CI:0.468～2.766), and the combined SL and LL (OR: 1. 217,95% CI: 0. 556 ～2. 663 ) were not significantly increased in comparison with those of females with the SS genotype (all P＞0.05). After adjustments for age, postmenopausal period, menopausal age, and body mass index, the logistic regression analyses revealed the (CAG)n polymorphism was not significantly associated with PMO at the femoral neck and L2-4 site (all P＞0.05). Conclusions The CAG repeat polymorphism in the AR gene may not be associated with PMO at the femoral neck and L2-4 site.

Nursing about percutaneous biliary tract stent implantation to cure malignant obstructive jaundice / 中国实用护理杂志

Objective To study the nursing method about percutaneous biliary tract stent implantation to cure malignant obstructive jaundice.Methods Careful perioperative nursing cares and finished post-hospital direction were applied among 21 patients with malignant obstructive jaundice when by percutaneous biliary tract stent implantation.Results There were 20 patients obtained successful operation,the successful rate was 95%.The postoperative of glutamic pyruvic transaminase were(96.60?89.36) U/L,the total bilirubin was(137.96?103.95) ?mmol/L,the directed bilirubin was((85.67)?62.95) ?mmol/L and the indirected bilirubin was(56.76?37.37) ?mmol/L.All the indexes which have mentioned above were significant lower than those of before operative,P

Changes of soluble fas and soluble fas ligand in serum and peritoneal fluid of infertile patients with endometriosis / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To evaluate the relationship between levels of soluble Fas (sFas) and soluble Fas ligand (sFasL) in serum and peritoneal fluid of endometriosis-associated infertility.</p><p><b>METHODS</b>The soluble Fas ligand and soluble Fas levels in serum and peritoneal fluid of 20 infertile patients with endometriosis were assessed with enzyme-linked immunosorbent assay, and were compared with 14 infertile patients due to chronic pelvic infectious disease and 16 fertile controls.</p><p><b>RESULTS</b>The sFasL levels were significantly higher in infertile patients with endometriosis (175.09 +/- 80.55 pg/mL in serum and 284.50 +/- 152.38 pg/mL in peritoneal fluid) than those of infertile controls (88.47 +/- 43.55 pg/mL in serum and 17.30 +/- 9.62 pg/mL in peritoneal fluid) and fertile controls (16.13 +/- 11.75 pg/mL in serum and 8.84 +/- 2.31 pg/mL in peritoneal fluid). In contrast, as for the sFas levels, infertile patients with endometriosis (828.60 +/- 429.65 pg/mL in serum and 349.61 +/- 288.89 pg/mL in peritoneal fluid) did not show any significant difference compared with those in infertile patients resulting from pelvic infectious disease (868.75 +/- 570.48 pg/mL in serum and 181.76 +/- 157.78 pg/mL in peritoneal fluid) and fertile control (822.26 +/- 129.12 pg/mL in serum and 318.42 +/- 145.16 pg/mL in peritoneal fluid).</p><p><b>CONCLUSIONS</b>Based upon these results, high level of sFasL in serum and peritoneal fluid and thus apoptosis mediated by it may be implicated in the mechanism involved in endometriosis-related infertility.</p>

Application of metallic stent implantation or percutaneous gastrostomy for high level cervical esophageal strictures:Report of 20 cases / 中国微创外科杂志

Objective To evaluate the feasibility and safety of interventional microinvasive techniques in the management of high level cervical esophageal strictures.Methods Among 20 cases of high level cervical esophageal strictures,13 cases of strictures at the level of C_7~T_3 were given an oral placement of nitinol metal stents woven by single thread under fluoroscopic guidance,while 7 cases of strictures at the level of C_7 and above were given a percutaneous gastrostomy(PG) under endoscopic or fluoroscopic guidance.Results All the operations were successfully accomplished without complications.Out of 13 cases of intraesophageal stent implatation,the improvement of dysphagia was classified as grade 0 in 10 cases and as grade Ⅰ in 3 cases.Esophago-tracheal fistula was completed occluded in 5 cases.Slight downward stent shift was found in 2 cases and no further management was carried out.Follow-up in 11 cases for 1~30 months(mean,18 months) revealed 3 cases of recurrence of esophageal stricture and 8 fatal cases.No stentinduced esophago-tracheal fistula occurred.Of 7 cases of percutaneous gastrostomy,liquid diet was given 2 days after operation.Infection with redness and swelling in the area of fistula wound was noted in 1 case at 1 week postoperatively and the fistula tube was found loosened in 1 case at 5 months postoperatively.No intraabdominal infection,peritonitis,or internal fistula occurred.Follow-up in 7 cases for 1~18 months showed 5 fatal cases.Conclusions Stent implantation should not be contraindicated in patients with high level cervical stricture of esophagus.Radiologically guided percutaneous gastrostomy is safe and feasible,which is preferred as the first choice of treatment.

Trans-arterial chemotherapy and embolization for the treatment of primary hepatic carcinoma complicated with portal vein tumor thrombus / 中国普通外科杂志

Objective To evaluate the effect and safety of trans-arterial chemotherapy embolization (TACE) in the treatment of primary hepatic carcinoma ( PHC ) with portal vein tumor thrombus. Methods There were 83 PHC patients complicated with portal vein tumor thrombus, age ranging from 29 to 76 years. Fifty-three cases underwent TACE ( Group A) , 30 receiving trans-arterial chemotherapy infusion only (TAI, Group B). Results The survival rate in group A at 6,12,24 and 36 months was 97. 8% , 85.2%,45.8% and 4.4%, respectively, significantly higher than that in group B (37. 6% ,5. 3% ,0,0, P

Combination of bronchial artery infusion chemotherapy and radiation therapy for locally advanced non-small cell lung cancer / 中华放射肿瘤学杂志

Objective To compare the efficacy between bronchial artery infusion (BAI) chemotherapy plus radiation therapy and systemic chemotherapy plus radiation for locally advanced non-small cell lung cancer (NSCLC). Methods One hundred and twenty-one patients with stage III NSCLC were randomized into treatment group(58 cases) and control group (63 cases). In the treatment group, all patients were administered with BAI for 2-3 sessions, followed by irradiation 4-7 days after BAI. In the control group, altogether 4-6 cycles of standard systemic chemotherapy were given. Radiation was delivered alternately between the cycles of chemotherapy. Results The short-term, long-term survival, median response duration and median survival time were similar between the two groups, except patients with stage Ⅲb who had a higher distant metastasis rate in the treatment group. The major side effects of chemotherapy and radiotherapy were hematological, gastrointestinal toxicities, pneumonitis, mediastinitis, and esophagitis, respectively. The side effects were milder, better tolerated and did not influence the regimen schedule in the treatment group, as compared with the control group. Seven patients withdrew from the control group, and in 28 patients, the scheduled chemotherapy and radiation was delayed or canceled. Conclusions Bronchial artery infusion plus radiation is more advantageous over systemic chemotherapy plus radiation in less toxicities, better compliance, shorter treatment courses and more cost-effectiveness.