Objective:To explore the genetic etiology of fetuses with congenital heart disease (CHD) through whole exome sequencing (WES).Methods:Thirty seven fetuses identified with CHD by prenatal ultrasonography but with negative results by chromosomal microarray analysis (CMA) at Jinhua Maternal and Child Health Care Hospital from January 2020 to June 2022 were selected as the study subjects, for whom WES was carried out.Results:WES and Sanger sequencing had detected 6 pathogenic or likely pathogenic variants, and 6 variants with unknown clinical significance. The variants had involved 15 loci within 11 genes, in addition with one copy number variation.Conclusion:WES can increase the detection rate for genetic abnormalities among fetuses with CHD, which can facilitate the prenatal diagnosis, evaluation of prognosis and genetic counseling for the couples.

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for fetuses with choroid plexus cysts (CPC) detected by prenatal ultrasonography. METHODS: Amniotic fluid chromosomal karyotype was analyzed in 104 fetuses with CPC, and copy number variations (CNVs) among the fetuses were detected by using CMA. RESULTS: Ten fetuses (9.62%) were found to have an abnormal karyotype, and 14 additional CNVs were detected in those with a normal karyotype. The fetuses were divided into isolated CPC group (n = 87) and non-isolated CPC group (n = 17) based on the presence of additional ultrasonographic abnormalities. The detection rates for karyotypic abnormalities of the two groups were 4.6% and 35.3%, respectively, whilst those for the CMA were 4.6% and 47.1%, respectively. The detection rates for karyotypic abnormalities and CMA of the non-isolated CPC group were significantly higher than those of the isolated CPC group (P < 0.05). The detection rate for CMA in the non-isolated group was significantly higher than chromosomal karyotype abnormalities (P < 0.05). Among the 8 fetuses with abnormal CMA, 4 had single umbilical artery, 3 had abnormal cardiac structure, and 2 had enhanced intestinal echo. CONCLUSION CPC is closely associated with chromosomal abnormalities. Chromosome karyotype analysis in combination with CMA can effectively detect fetal chromosomal abnormalities and provide a basis for genetic counseling.
Humans ; Female ; Pregnancy ; DNA Copy Number Variations ; Choroid Plexus/diagnostic imaging* ; Microarray Analysis ; Karyotype ; Chromosome Aberrations ; Amniotic Fluid ; Cysts

OBJECTIVE: To explore the value of non-invasive prenatal testing (NIPT) for the detection of fetal chromosome copy number variations (CNVs). METHODS: Clinical data of 18 661 pregnant women who underwent NIPT were collected. For fetuses suspected for carrying CNVs, amniotic fluid samples were collected for chromosomal karyotyping and/or chromosomal microarray analysis (CMA). RESULTS: Among all samples, NIPT suggested that 58 fetuses carried trisomy 21, 18 carried trisomy 18, 19 carried trisomy 13, 1 carried trisomies 18 and 21. Eighty eight women accepted invasive prenatal diagnosis. The results of CMA in 59 cases were consistent with those of NIPT, which yielded a consistency rate of 67.05%. In addition, 37 cases of fetal CNVs were detected by NIPT, of which 19 (15 microdeletions and 4 microduplications) have accepted invasive prenatal diagnosis. In 14 cases, the results were consistency with those of NIPT, with a consistent rate of 73.68%. CONCLUSION NIPT features high sensitivity and accuracy. Invasive prenatal diagnosis should be considered for CNVs detected by NIPT, and by tracing its parental origin, it can provide guidance for clinical practice.
Chromosomes ; DNA Copy Number Variations ; Female ; Fetus ; Humans ; Pregnancy ; Prenatal Diagnosis ; Trisomy/genetics*

Objective To find out the satisfaction changes among young medical workers and explore the influence of the healthcare reform on such people.Methods A survey was conducted by means of random sampling among 716 medical workers under 45 years old from 6 hospitals,and combined with the survey data in 2009,young medical workers′satisfaction changes and the influencing factors were analyzed.Results Young medical workers′satisfaction is generally low,with declining satisfaction of social respect as well;satisfaction of medical workers in community medical institutions and secondary medical institutions was found declining dramatically.Conclusions Healthcare reform should pay more attention to these young people in terms of their own satisfaction,especially for those working at primary healthcare institutions.

Objective To investigate the immunological function variation of peripheral dendritic cell(DC)from bladder cancer patients after blocking PD-L1 pathway.Methods DC from normal control and patient with bladder cancer were cultured with rhGM-CSF,rhIL-4 in vitro and treated with PD-L1 monoclonal antibody.The expression of CD1a,HLA and CD83 were examined by flow cell meter.The effect of DC induced lymphatic cellular proliferation and its capability of secreting IL-10,IL-12 were determined by MTT and ELISA.Results Blocking PD-LI pathway did not infuluence the maturation of DC.But the DCs from bladder cancer patient signifcantly boosted the lymphatic cellular proliferating(4.00 ± 1.28 versus 1.49 ±0.45)and IL-12 secretion capability(108.30 ± 21.89 versus 37.17 ± 14.89 ng/L),and yet it also decreased the secretion of IL-10(108.90 ± 21.77 versus 14.99 ± 54.99 ng/L)after blocking PD-L1 pathway (P ＜ 0.05).Conclusion Blocking PD-LI pathway on the DC from bladder cancer patient may improve its anticancer immunological function.

Objective To evaluate the feasibility and efficacy of laparoscopic single-port transumbilical renal pedicle lymphatic disconnection (TRPLD) for treatment of chyluria. Methods Nine cases of chyluria underwent laparoscopic single-port TRPLD. In all cases a 2-3 cm single inverted Ushaped supraumbilical incision was made, two 5-mm and one 12-mm trocars were inserted, and a medical rubber glove was sutured surrounding the three trocars and incision was made for gas proofing.Conventional straight and flexible instruments were used for dissection. Results All laparoscopic operations were successfully completed without conversion to open surgery. The mean operative time was 135 (96-178) minutes, and the mean estimated blood loss was 126 (50-250) ml. Chyluria disappeared in all patients after operation and did not reoccur during the follow-up (1 - 6 months).Conclusions Laparoscopic single-port transumbilical TRPLD represents a feasible and novel mini-invasive option for patients with chyluria.

BACKGROUND: Urological complication is one of common surgical complications following transplantation and severely threatens renal function, even patient's lives. Urological complications following renal transplantation mainly contain urinary fistula,ureteral obstruction and ureter backflow.OBJECTIVE: To retrospectively analyze the incidence and management of urological complications following kidney transplantation.METHODS: A total of 1 223 patient times following kidney transplants were selected at the Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University of Chinese PLA from December 1993 to April 2007.According to ureter of donor kidney and the urinary tract of recipients, ureteroneocystostomy was used for urinary tract reconstitution in 948 patient times, and end-to-end ureteroureterostomy in 275 patient times. Urological complications such as urinary fistula, ureteral obstruction and vesicoureteral reflux (VUR) were treated by the different methods on the basis of the different causes, mainly by surgical procedures. Reason of urological complications, surgical management of urologicalcomplications and its clinical outcome, the 3-year survival rate of grafted kidney were measured.RESULTS AND CONCLUSION: In a total of 1 223 patients, urological complications were encountered in 92 cases (7.5%), including 43 cases of urinary fistula (3.5%), 35 ureteral obstruction (2.9%), 14 VUR (1.1%). 35 cases of urinary fistula, 29 ureteral obstruction, 6 VUR were cured by surgical procedures including ureteroureterostomy in 35 patients (50%), revision of ureteroneocystostomy in 18 (25.7%), endourology in 11 (15.7%) and other operation in 6 (9.6%). All recipients with urological complications regained normal graft function except one undoing transplanted nephrectomy due to the pelvis and urteral necrosis. There was no grafted kidney and recipient loss secondary to these complications in the present series. The 3-year survival rate of graft with urological complications and without urological complications did not show significant difference (P > 0.05). These indicated that most of urological complications following kidney transplantation request surgical management, and ureteroureterostomy are frequently used. The long-term graft survival is not affected by a correctly treated urological complication.

BACKGROUND: Urinary kidney injury molecule-1 (KIM-1) has been proved to be a novel kidney-specific injury molecule as a marker for the diagnosis of acute renal ischemia injury, and KIM-1 participated in the progress of renal injury repair. However, no one reported the significance of its dynamic expression during the functional rehabilitation of renal graft.OBJECTIVE: To investigate the relations between urinary KIM-1 level and the early renal graft function in order to provide rational approaches for evaluating or predicting early renal graft function.METHODS: The 46 patients were divided into 3 groups, including 22 cases of immediate graft function (IGF), 14 cases of slow graft function (SGF) and 10 cases of delayed graft function (DGF). The 24-hour urine specimen was collected every day for 2 weeks since the operation. The urinary KIM-1 content was detected by enzyme linked immunosorbent assay (ELISA), and at the same time the urinary and serum creatinine levels were detected. The diversity of urinary KIM-1 level was observed during the recovery of the graft function, and the clinical significance was evaluated by analyzing the correlation of urinary KIM-1 level and serum creatinine.RESULTS AND CONCLUSION: At the first 2 days after kidney transplantation, the urinary KIM-1 levels were high and no significant difference was observed between the three groups (P < 0.05). Two days later, the urinary KIM-1 level descended quickly along with the descent of the serum creatinine in IGF and SGF groups; the urinary KIM-1 maintained high levels until the serum creatinine reached normally. In DGF group, the urinary KIM-1 decreased quickly to a low level after 2 days from operation, but it increased promptly 1 to 2 days before the recovery of graft function and kept a high level until the serum creatinine reached normally. This suggested that consecutive detection of urinary KIM-1 is useful for monitoring the early graft function after kidney transplantation, and high urinary KIM-1 may suggest the recovery of graft function.

BACKGROUND: The urinary fistula rates following kidney transplantation are varying in each center, which lack of unified classification criteria and treatment standard. OBJECTIVE: To explore optimal treatments for urinary fistula following kidney transplantation by retrospective analyzing the characteristics, etiological factors and therapeutic efficacy of urinary fistula. METHODS: Totally 68 patients with urinary fistula were collected, including 42 males and 26 females, aged 21-57 years. The urinary fistula occurred at days 1-17 after operation. According to the location of urinary fistula, patients were divided into stomas fistula and ureter fistula groups. The location of fistula was determined by cystography, magnetic resonance hydrography (MRH) or operation research. In both groups, conservative treatment was first adopted, namely, placing a negative pressure drainage tube draining the wounds and placing a double-J catheter or a urinary canal in, however, if invalid, a surgical repair was performed. There were 45 patients underwent surgery. The location, onset period, therapeutic efficacies of urinary fistula was analyzed. RESULTS AND CONCLUSION: Among the 68 cases of fistula, 20(29.4%) were stomas fistula and 48 (70.6%) were ureter fistula. The onset period was (5.1±2.5) and (8.8±5.5) days after transplantation, respectively (P < 0.05). Fifteen of 20 stomas fistula (75.0%) were cured successfully by conservative treatment. Whereas, for the remaining 5 cases (25.0%), we attempted open surgery, among which 4 were cured, free of recurrence, and 1 case underwent nephrectomy because of acute rejection. For the 48 cases of ureter fisula, only 8 (16.7%) were cured by conservative treatment, but the other 40 (83.3%) must accept further open surgery, among which 35 were cured (including 6 cases of recurrent fistula). Three cases underwent nephrectomy failure of repair owing to acute rejection, besides 2 died of pulmonary infection. The achievement ratio of conservative treatment in lower fistulae was significantly higher than that of upper fistulae (P < 0.01). It is necessary to determine the location of urinary fistula following kidney transplantation. Compared to ureter fistula, stomas fistula occurred earlier with great leaked volume. Conservative treatment can first selected for stomas fistula, only if it is invalid can we resort to open surgery. However, for. ureter fistula, it is wise to adopt open surgery as soon as possible.

Objective To evaluate effects and safety of gonadotrophin-releasing hormone agonist (GnRH-a) combined with transdermal estradiol and medroxyprogesterone acetate in the treatment of endometriosis. Methods From January I st, 2007 to July 31 st, 2007, 28 endometriosis patients underwent laparnscopic or transabdominal surgery in Obstetrics and Gynecology Hospital affiliated to Fudan University were randomly divided into group A and group B. 14 patients in group A received 3.6 mg goserelin once every 4 weeks, 12 weeks in all 14 patients in group B received goserelin and added 1/2 piece of half-hydrate estradiol every week and 6 mg oral medroxyprogesterone acetate per day, 12 weeks in all. Serum estradiol (E2 ), follicle stimulating hormone(FSH), bone gla protein levels, visual analogue scale (VAS) of pain, bone mineral density of lumbar spine, vaginal exfoliate cell spurs and the form of Kupperman were compared in patients before and after treatment. Results (1 ) After treatment, the level of FSH and E2levels were (5.0 ± 2. 6 ) U/L and (29 ± 17 ) pmol/L in group A and (3.0 ± 1.5 ) U/L, and (87 ± 53 ) pmol/L in group B, which were significantly lower than those before treatment [FSH (17. 0 ± 12. 2) U/L, and E2 (184 ± 194) pmol/L in group A and FSH :(15.3±13.6)U/L and E2: (281±242) pmol/L in group B, P ＜ 0. 01]. On the seventh day after three-month GnRH-a treatment, it was observed that the level of E2 was higher and FSH was lower in group B than the level of E2 and FSH of group A (P ＜ 0. 01 ). (2 ) After treatment, the basal vaginal exfoliate cell proportion in group A [(66. 2 ± 29. 0) %] was significantly lower than that in group B [(11.8 ± 28. 0) %, P ＜ 0. 01] ; while patients in group A owned a lower proportion of the middle [(29. 1 ± 23.1 ) %], superficial layers [(4. 0 ± 5.5 ) %] and esinophilic cells [(2. 3 ± 2. 6)%]than patients group B [middle layer: (73. 0 ± 25.2)% ; superficial layer: (15. 2 ± 10. 9)% ; esinophilic cells: (10. 8 ± 7.9 ) % ; P ＜ 0. 01]. (3) Before the treatment, patients' VAS scores of total, pelvic pain, dysmenorrheal and dyspareunia were 7.43±3. 20,2. 35 ± 1.82, 4. 93 ± 1.98 and 0. 14±0. 53 in group A and were 7.71±2. 02, 2. 57 ± 1.60, 4. 86 ± 1.56 and 0. 29 ± 1.07 in group B; after treatment, the scores above were changed to 0. 14±0. 36,0. 07±0. 27,0. 07±0. 27and 0 in group A and 0. 36±0. 50, 0. 29±0. 47, 0. 07±0. 27 and 0 in group B, which were all significantly lower than those before treatment separately (P ＜0. 01 ). When menstruation recovered, the scores were 0. 21±0. 43, 0. 07±0. 27, 0. 14 ± 0. 36, and 0 in group A and 0. 50±0. 65, 0. 29±0. 47, 0. 21±0. 43 and 0 in group B, which were also significantly lower than those before treatment (P ＜ 0.01 ), however, no statistical difference was found between groups at any time spot(P ＞ 0. 05). (4) In group A, the bone density after treatment [(0. 96 ± 0. 06 ) g/cm2] was lower than that before treatment [(0. 99 ± 0. 06 ) g/cm2, P ＜ 0.01 )]. In group B, the index was (0. 98 ± 0. 09) g/cm2, which was lower than that before treatment [(0. 99 ± 0. 10 ) g/cm2, P = 0. 201]. No statistical difference was found between groups(P ＞ 0. 05 ). The bone loss rate were (- 2. 77 ± 1.97 ) % in group A and (- 0. 93 ± 2. 86 ) % in group B (P = 0. 058 ). Before treatment, the bone gla protein was (13±3) μg/L in group A and (13±6) μg/L in group B. After treatment, the bone gla protein levels was (17±6)μg/L in group A, which was higher than that before treatment (P ＜ 0. 01 ), the level was (16±6)μg/L in group B, which was higher than that before treatment, however showed no statistical difference(P =0. 053). No difference was found in bone gla protein before and after treatment between two groups (P＞0. 05). (5) The form of Kupperman after treatment were 15±7 in group A and 11±6 in group B, which did not show significant difference (P ＞ 0. 05 ). The incidence of flash and sweat were 93% (13/14)in group A, which was significantly higher than that 57% (8/14) in group B(P ＜0.01 ). Conclusion The add-back therapy that consists of an estradiol patch and oral medroxyprogesterone acetate is effective and safe treatment for endometriosis.