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OBJECTIVE@#To detect genetic variant in a sib-pair with Finnish type congenital nephrotic syndrome (CNF).@*METHODS@#Clinical data of the sib-pair was reviewed. Coding regions of the NPHS1 gene was analyzed for the sib-pair and both parents.@*RESULTS@#The sister and brother respectively developed severe proteinuria 1 month and 28 days after birth, in addition with low serum albumin, hypercholesterolemia and severe edema, which were suggestive of CNF. Genetic testing identified that the sib-pair has both carried two heterozygous variants of NPHS1 gene, namely c.2605G>C (p.P869>A) and c.-61G>A, for which their father and mother were heterozygous carriers.@*CONCLUSION@#The c.2605G>C (p.869P>A) and c.-61G>A variants of the NHPS1 gene probably underlay the CNF in both sibs. The c.2605G>C(p.869P>A) was unreported previously.
Sujets)
Adulte , Femelle , Humains , Nouveau-né , Mâle , Protéines membranaires/génétique , Mutation , Syndrome néphrotique/génétique , FratrieRésumé
Objective To evaluate the impact of gonadotropin-releasing hormone agonist(GnRH-a) used before surgery on natural pregnancy rates in patients with ovarian endometriomas. Methods In this retrospective study, 57 patients with ovarian endometriomas who had a consecutive laparoscopic surgery between June, 2010 to September, 2015 in Peking Union Medical College Hospital were included. Those patients were divided into preoperative GnRH-a treatment group(n=31)and non-GnRH-a treatment group (n=26). There were no differences in patients'characteristics between the two groups. All of them had a desire for natural pregnancy postoperatively. GnRH-a was no longer used after surgery. After the surgical procedure, the patients were observed over a period of 12 months, during which the frequency of natural pregnancy was assessed. The two groups were compared in terms of natural pregnancy rates. Results Totally 33 patients had natural pregnancy after surgery. The univariate analysis showed that the pregnancy rates of age, r-AFS stage, infertility, preoperative use of GnRH-a, tumor size, tumor side, deep infiltrating endometriosis and adenomyosis did not have statistically significant differences (all P>0.05). The two classified logistic regression showed that OR for preoperative use of GnRH-a was 0.250(95%CI: 0.064-0.978)with a statistical difference(P=0.046). Conclusion The use of GnRH-a preoperatively may have a negative effect on natural pregnancy rates of patients after surgery with ovarian endometriomas.
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Objective To explore changes of urine transferrin (TFR),micro albumin (mALb),β2 microspheres protein (MG),α1MG and N-acetylβ-D amino group (NAG) in children with kidney injury induced by cytomegalovirus (CMV) infec?tion, and the outcome after treatment. Methods Fifty children with CMV infection were used as case group, and 35 chil?dren of convalescence stage of upper respiratory tract infection were used as control group. The serum levels of creatinine (Scr), blood urea nitrogen (BUN),β2MG, liver function, CMV-IgM, CMV-PCR and brainstem auditory (BAEP), head CT and urine routine test, urine TFR, mALb,β2MG,α2MG and NAG were detected. The sputum CMV-PCR was detected if childrencombined with CMV pneumonia. Ganciclovir (5mg/kg) was given to two groups, 1/12 h i.v. for 14 d. The urine TFR,mALb,β2MG, α2MG and NAG were detected again after treatment. Results There were no significant differences in the urine mALb and TFR between the two groups. The urine levels ofα1MG, NAG andβ2MG were higher in case group than those of control group. The urine levels ofα1MG, NAG andβ2MG were decreased after 2-week treatment in case group. There were no significant differences in urine mALb and TFR before and after treatment. Conclusion The combined detection ofβ2MG,α1MG and NAG can predict CMV kidney damage in children at a early stage.
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Objective To investigate clinical outcome of laparoendoscopic single-site compared with traditional three-port in treatment of ovarian cystectomy.Method From February 2012 to June 2013,54 patients with ovarian cyst were randomized to the single-site group (n =24) or the three-port group (n =30) in Peking Union Medical College Hospital.The outcome of laparoscopic single-site and three-port ovarian cystectomy were evaluated.Operation time,blood loss,surgical complications,postoperative pain score,postoperative analgesic requirements,length of hospital stay,cosmetic satisfaction score,postoperative recovery and total cost were compared between both groups.Results No difference was found in blood loss,length of hospital stay,complications and total cost between the two groups(P > 0.05).Operation time was (31-± 10) minute in three-port group and (40 ± 19) minute in single-site group.Visual analogue pain score was 5.6 ± 1.7 in three-port group and 2.7 ± 1.4 in single-site group,cosmetic satisfaction score was 92.5 ± 2.5 in three-port group and 97.4 ± 1.5 in single-site group.Those clinical parameter reached statistical difference (all P < 0.05).Conclusion Laparoendoscopic single site surgery approach is feasible and safe to treat benign ovarian cyst disease.And it offers decreased pain and offer improved cosmesis.
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Objective To explore the operation skills of laparoendoscopic single site surgery ( LESS) of total hysterectomy , to expand the application of LESS in the field of in gynecologic surgery . Methods A total of 23 cases of total hysterectomy were completed under laparoendoscopic single site surgery in Peking Union Medical College Hospital from January 2012 to August 2013, applying with combination of the traditional laparoscopic and special LESS apparatuses , intelligent electronic coagulation and excision device and the self-fixed absorbable sutures ( V-LOC).The datas of the patients during the operations and the follow-up were recorded and analyzed Results Twenty-three cases LESS-TH are accomplished.The weight of uterus was (230+38) g.The operation time was (73+22) minutes, with the intraoperative blood loss (99 ±53) ml.The postoperative intestinal function recovery time was (13 +4) hours, and postoperative hospitalized time was ( 1.8 ±0.6 ) days, with the postoperative pain visual analogue scale 3.9 ±1.6.There were no complications reported during intraoperative and postoperative time.All of our patients was finished the follow-up from 14 d to 2 months.As usual, vaginal discharge is normal, wound healed well, most of the wounds healing (19/23) hidden in umbillicus, no obvious scar, vaginal stub wound healed well Conclusions ( 1 ) LESS can accomplish total hysterectomy of uterus of gestational age less than 8 weeks safely and effectively .( 2 ) Combination of traditional laparoscopic and special LESS appatatuses , the use of intelligent energy devices and V-LOC to suture vaginal stub could make the total hysterectomy by LESS much easier and safer .
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Objective To investigate strategies of diagnosis and treatment of ureter endometriosis. Methods From 1983 to 2010, the cases registered in Peking Union Medical College Hospital and confirmed as ureter endometriosis by surgery were enrolled in this study. Clinical manifestatios, preoperative examinations, surgical categories and routes, surgical and pathological findings, post-operative medical treatment, relapse and relating factors were collected and studied. Results Totally 46 patieuts with ureter endometriosis underwent one or two surgeries. Forty-eight per cent (22/46) of patients were not be diagnosed with ureter endometriosis pre-operatively, and 46% (21/46) only presented dysmenorrhea or even no symptoms. Ureterolysis (72%, 33/46) and laparotomy (63%, 29/46 ) were the most common surgical category and surgical approach. There were 64% (25/39) of patients had left ureter involved and 80% (37/46) had extrinsic ureter endometriosis. Fifteen per cent (7/46) of patients had relapsed disease with median recurrent time of 24 months (13 -49 months), and they all received second surgeries. Logistic regression analysis showed that only gonadotropin releasing hormone analogue agents were related with recurrence when compared with those patients without medical treatment post-operatively significantly ( OR =23.2, 95% CI:2. 4 -221.7, P =0. 002). Conclusions Ureter endometriosis was related with reproductive tract endometriosis. It has insidious process resulting in difficulty for early diagnosis. It's important to treat pelvic deep infiltrating endometriosis and ovarian endometrioma to prevent ureter from further involvement. Post-operative treatment of pelvic endometriosis is the key point of preventing relapse of ureter endometriosis.
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Objective To investigate the characteristics of the anatomical distribution of posterior deeply infiltrating endometriosis (PDIE) lesions, pain symptoms and effects of laparoscopic surgery.Methods Clinical data of 176 PDIE patients with laparescopically diagnosed and histologically confirmed were analyzed and compared with data of 179 cases with non-PDIE. According to the invasion of rectum or vaginal fomix, 176 PDIE cases were divided into three groups: simple (144 cases), fornix (18 cases) or rectum group (14 cases). Results Compared with the non-PDIE patients, the risk of pain symptoms in PDIE patients were significantly increased, OR for dysmenorrhea, chronic pelvic pain, deep dyspareunia,dyschezia were 6.73 (95% CI, 3.66-12.40), 1.90 (95% CI, 1.17-3.05), 3.09 (95% CI, 1.94-4. 92) and 4.90 (95% CI, 2.07-8.11), respectively (all P < 0.05). The highest incidence of dyschezia was observed in rectum group (50. 0%, P <0.05), while deep dyspareunia in fornix group (72.2%, P < 0.05). The longest operative duration (82±31) minutes and the postoperative hospitalization (7.7±2.1) days were observed in rectum group (P <0.01). The median pain relief time was 56 months in the patients with complete excision of PDIE lesions, which was significantly longer than that in patients with incomplete excision (25 months, P <0.01). Multivariate analysis demonstrated that only incomplete excision of PDIE lesions was the risk factor for shorter pain relief time (P<0.05). Conclusion Conservative laparoscopic surgery may effectively relieve pelvic pain symptoms in patients with PDIE, while incomplete excision of PDIE lesions was the only significant predictor of shorter pain relief time.
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Objective To investigate the characteristics and trends of surgical management on endometriosis in Peking Union Medical College Hospital From 1983 to 2009. Methods The medical documents of patients with endometriosis diagnosed by surgical pathology were studied retrospectively in Peking Union Medical College Hospital (PUMCH). The ratio of different surgical approaches (laparoscopic and laparotomic surgery) and surgical categories (conservative, semi-radical or radical surgery) were compared in all the cases with endometriosis to investigated alterations trends of approaches and methods of surgery. Results Totally integrated records of 13 972 patients underwent surgeries on endometriosis were reviewed and consisted of 24. 974% (13 972/55 945) of all gynecologic surgeries. 59. 490% of cases (8312/13 972) were treated by laparoscopic approach, which were significantly higher than the rate of 37.700%(15 824/41 973) of laparoscopic approaches in the other gynecologic diseases (P<0.01). The proportion of laparoscopic surgeries in all endometriosis surgery was 67.31% (947/1407) between 2005 and 2009, which were significantly higher than 55. 98% (510/911) of laparoscopic surgeries between 2000 and 2004 (P<0.01). Conservative surgery (i.e.,with uterus and ovaries intact) consisted of 64. 014%(8663/13 533) of endometriosis surgeries. The proportion of conservative surgeries was 66. 24% (4176/6304) between 2005 and 2009. The proportion of laparoscopic approaches consisted of 81.10% (7026/8663) of conservative surgeries and 26. 30% (1281/4870) of semi-radical or radical surgeries (P<0.01).The average number of annual surgeries, the average number of annual laparoscopic surgeries and its proportion in endometriosis, and the average number of annual conservative surgeries and its proportion in pelvic endometriosis between 2005 -2009 were all increased significantly than those at range of 1983 to 1999 and 2000 to 2004. The rate of severe complication 0. 351% (49/13 972) was observed in all endometriosis surgeries. Conclusion Surgery was the major treatment of endometriosis in PUMCH, laparoscopic surgery was the major approach and conservative surgery was the major surgery type.
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Objective To identify the differentially expressed genes in cardinal ligament between patients with pelvic organ prolapse ( POP) and postmenopausal women without POP by Human Genome Expression Chip and explore the potential molecular mechanism involved in POP.Methods From January to May,2007,cardinal ligament samples were obtained from 3 postmenopausal patients with POP-Q stage Ⅲ and 3 postmenopausal patients underwent hysterectomy due to other benign gynecologic diseases without POP in Peking Union Medical College Hospital.HE and Masson's trichrome staining was used to verify tissue origin and inspect histological changes.Those differentially expressed genes in cardinal ligaments were identified by Human Genome Chip and further interrogated with Gene Ontology (GO) and Pathway Analysis.Those remarkable expressed genes were confirmed by qRT-PCR.Results Alterations of ligament architecture in POP patients included disarrangement and collapse of smooth muscle bundles and collagen fibers.A total of 179 differentially expressed genes were screened between POP and non-POP cardinal ligament tissue,including 20 functional unknown genes.A total of 107 genes were upregulated in POP group,while 72 genes downregulated.Those differentially genes were revealed associated with multiple functional proteins and metabolic pathways by biological analysis.Among these,Wnt signaling pathway exhibited the most remarkable changes.Real-time quantitative PCR showed the genes of COL1Al,DKK1,SFRP1,FZD5,WNT16b in POP group (2.98 ±1.40,3.03 ±0.48,8.13 ±4.42,5.19 ±3.50,12.40± 3.88) were upregulated significantly compared with non-POP group (1.09 ±0.08,1/20 ±0.18,0.41 ± 0.51,0.87 ±0.24,1.40 ±0.47; P < 0.05 ).Conclusions The pathophysiology of POP is complex and associated with multiple functional proteins and metabolic pathways.Among these,the antagonist DKK1,SFRP1 in Wnt signaling pathway may contribute to a neurodegenerative role in POP development.
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markers of endometriosis. Its clinical value deserves further investigation.
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Objective To set up the proteomic protein profiling of adenomyotic tissue and normal uterine muscle and identify the abnormally expressed proteins in adenomyotic tissue. Methods Samples of adenomyotic tissue (adenomyosis group) and age-matched healthy uterine muscle (control group) were collected from totally 10 patients undergoing transabdominal hysterectomy for adenomyosis and cervical diseases at Peking Union Medical College Hospital from January 2007 to October 2007. The proteomics profiling of adenomyotic tissue and normal uterine tissue were established using two dimensional gel electrophoresis (2-DE) and gel staining method. The differently expressed protein spots were detected by gel comparison using image analysis software and identified using matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS). Results In Coomassie blue stained gels there were on average (512 ± 36) spots and compared with the reference gel the matching rate was 83.7%. In silver stained gels there were (762 +54) spots and compared with the reference gel the matching rate was 81.1%.Compared with normal uterine muscle, there were 15 protein spots disregulated in adenomyotic tissue.Among them 10 protein spots were successfully identified by mass spectrometry. The functions of these disregulated proteins included cell skeleton, oxidation, apoptosis and immune reaction. Conclusions Comparative proteomics analysis is a useful approach for the study of adenomyosis. Compared with normal uterine muscle there are abnormalities in cell skeleton, oxidation, apoptosis and immune reaction. These life processes may participate in pathophysiology of adenomyosis.
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Objective To establish the nude mouse model for in vivo research on endometriosis.So to study the mechanism and effect of anti-vascular endothelial growth factor(VEGF) antibody treatment on the growth of established endometriotic-like lesions in the nude mouse model.Methods Human endometrium is implanted into nude mice and used to test the effect of anti-VEGF antibody.The models were seperated into control groups and experimental groups(using anti-VEGF antibody).The TUNEL,PCNA and MVD were used to evaluate the effects of apoptosis,proliferation and angiogenesis.Results The explants in the control groups develop a rich blood supply that enables them to survive and grow than those in the experimental groups.The apoptosis in experimental groups was significantly higher than those of the control groups.The proliferation didn't show difference in these groups.The MVD in the control groups(human non-endometriosis 12.80?4.60,endometriosis 13.15?5.66;mouse non-endometriosis 29.7?19.6,endometriosis 34.6?16.3) were higher than those in the experimental groups(human non-endometriosis 7.17?2.25;endometriosis 7.32?1.30;mouse non-endometriosis 11.2?6.2;endometriosis 15.6?6.8).Conclusion Anti-VEGF antibody effectively interfered with the maintenance and growth of endometriotic-like lesions by disrupting the vascular supply.The anti-VEGF antibody may be provided a novel therapeutic approach for the treatment of endometriosis.
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0. 05) . The muscular fiber density of levator ani muscles in SUI and POP groups was decreased, fibers were arranged in disorder and separated by large quantities of dense connective tissues with infiltrating inflammatory cells. The muscle fiber fascicles showed obvious grouped denervative atrophy, fiber type grouping and angular in shape. And also there was myopathic degeneration such as centrally located nuclei, peripheral phagocytosis and vacuolated necrosis. Conclusions There are both neurogenic and myopathic alterations in levator ani muscle's structure in patients with SUI and POP. The presence of both acute and chronic abnormalities indicates that the weakness of pelvic floor is a consequence of prolonged denervation.
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Objective To determine the correlative factors with recurrence of endometriosis after conservative surgery Methods A cohort study was performed on 285 patients who had a minimum of 36 months of follow up after conservative surgery for endometriosis All patients underwent clinical interview, physical examination and ultrasonography The factors measured included: age at surgery, age at onset of disease, gravidity, parity, tenderness nodule at cul de sac (yes/no), uterus mobility (movable/fixed), serum CA 125 level, type of operation (laparoscopy/laparotomy), history of operation for endometriosis (yes/no), side of endometrioma (left/right/bilateral), intraoperative revised classification American Fertility Society (r AFS) scores, post operative r AFS scores, highest post operative temperature, post operative adjuvant therapy, post operative gravidity and parity The recurrent rate and its predictive factors were evaluated and the univariate, multivariate COX regression and Kaplan Meier analyses were performed to determine the predictive factors for recurrence of endometriosis Results The related factors and their odds ratio( OR ) by univariate analysis were as follows: history of endometriosis surgery, 13 630( P