Objective: To study the relationship between dilated cardiomyopathy and nuclear lamina protein (LMNA) gene mutation in Kazak ethnics at Xinjiang area.
Methods: A Kazak familial dilated cardiomyopathy (FDCM) with 31 members was studied. In addition, 160 patients with idiopathic dilated cardiomyopathy (IDCM) with 160 healthy controls were enrolled in our study, and they were divided into 4 groups: IDCM-Kazak, IDCM-Han and Control-Kazak, Control-Han.n=80 in each group. Peripheral blood DNA were extracted, 12 exons with nearby introns of LMNA gene were detected by PCR and the ampliifed products were sequenced and compared with the standard template of CHROMAS and BLAST software to identify mutation sites. LMNA mutation in both Kazak and Han IDCM patients were investigated.
Results: A novel LMNA mutation (insC, CGG→CCG) at exon 7 was identiifed in a FDCM proband, it caused an amino acid substitution as Arg to Pro, and a known LMNA polymorphism loci rs4641 (c.1362C>T His454His) was fund at exon 10. In addition, LMNA polymorphism loci rs4641 genotype distribution (χ2=5.16,P=0.036) and allele frequency (χ2=4.50,P=0.034) were statistically different between IDCM-Kazak group and Control-Kazak group; while such differences were no statistic meaning between IDCM-Han group and Control-Han group. Logistic regression analysis indicated that LMNA polymorphism loci rs4641 was related to IDCM occurrence in Kazak ethnics (P=0.025, OR=0.412, 95% CI 0.189-0.896).
Conclusion: LMNA polymorphism loci rs4641 was related to IDCM in Kazak ethnics at Xinjiang area, which might be susceptible loci for IDCM occurrence.

Objective To summarize our experience in robotic-assisted laparoscopic surgery for adrenal diseases Methods The clinical data of 243 patients with adrenal tumor treated by robotic-assisted laparoscopic surgery from March 2010 to February 2017 were retrospectively reviewed.There were 99 men and 144 women.The mean age was 51.6 years (range, 19-84).Tumors located at left adrenal in 140 cases, right in 97 cases,and both sides in 6 cases.The average diameter was 3.32 cm (range, 0.8-12 cm).However, there were 41 cases whose tumor diameter were greater than 5 cm.Results There were 2 cases of conversion during operation, 1 case converted to open surgery and the other to the traditional laparoscope surgery.The mean operative time was 35 min (range, 20-130 min).Estimated blood loss was 80 ml (range,20-1 200 ml).Blood transfusion was needed in 6 cases.The mean postoperative hospital stay was 5d (range, 3-20 d).The pathological diagnosis included 37 cases of pheochromocytoma, 149 cases of cortical adenoma, 3 cases of cortical carcinoma, 5 cases of metastatic tumor, 9 cases of adrenal myelolipoma, 3 cases of adrenal cyst, 2 cases of bronchogenic cyst, 25 cases of adrenal nodular hyperplasia,2 cases of angiomyolipomas, 1 case of mature teratoma, 1 case of diffuse large B-Cell lymphoma, 1 case of angioma, and 4 cases of neurofibromatosis.Conclusions Robotic-assisted laparoscopic adrenalectomy was safe and effective.Robotic-assisted laparoscopic surgery has the advantages over laparoscopic surgery in treatment of complicated adrenal tumor, such as large adrenal tumors, pheochromocytoma, bilateral adrenal diseases, overweight and obese patients with adrenal diseases.

OBJECTIVEDetect the relationship between TPM1 gene mutations and dilated cardiomyopathy (DCM) of Kazaks and Hans in Xinjiang.

METHODSTPM1 gene was screened from 31 family members in a Kazak family with familiar DCM (FDCM), 100 patients with idiopathic DCM (IDCM, 50 Kazaks and 50 Hans), and in 100 healthy controls (50 Kazaks and 50 Hans). All the samples were the inpatients or outpatients of First Affiliated Hospital of Xinjiang University from 2012 to 2014. PCR was used to amplify 9 exons and nearby introns of the TPM1 gene. The amplified products were sequenced and compared with the standard sequence with CHROMAS software and BLAST software in Pubmed to identify mutation sites. The relationship between TPM1 gene mutations in the Kazak IDCM and healthy volunteers, between Han and Kazak IDCM and healthy volunteers was analyzed. Tropomyosin was qualitatively and quantitatively detected by ELISA in all subjects.

RESULTSA novel variant (c.524 G > T) was identified in two FDCM patients at exon 3, this mutation caused an amino acid substitution, Gln111His. The FDCM, IDCM from Kazak and Han, healthy volunteers from Kazak and Han were founded a rs1071646 (c.644C > A, Ala151Ala). There was a significant difference in the genotype distribution (χ(2) = 13.36, P = 0.001) and allele frequency (χ(2) = 10.25, P = 0.001) between Kazaks with IDCM and Kazak controls of rs1071646, while these parameters were similar between Han IDCM patients and Han controls (all P > 0.05). The tropomyosin content of Kazak and Han IDCM patients were significantly lower than Kazak and Han controls ((1 764.2 ± 350.9) ng/L vs. (2 369.7 ± 345.9) ng/L, P = 0.001).

CONCLUSIONTPM1 gene of rs1071646 polymorphism is a possible independent risk factor for IDCM in Kazaks but not Han Chinese.

Cardiomyopathy, Dilated ; genetics ; Exons ; Gene Frequency ; Genotype ; Humans ; Mutation ; Polymorphism, Genetic ; Pyridines ; Risk Factors ; Tropomyosin

Objective To explore the clinical feasibility of robot-assisted laparoscopic radical cystectomy (RARC) with total intracorporeal othotopic ileal neobladder (TIOIN).Methods A consecutive series of 4 patients (2 male,2 female),who underwent RARC with TIOIN by a single surgeon,were included in the retrospective study,between March 2017 and June 2017.Their age ranged from 59 to 71 years,which the mean age was (65.7 ± 4.9) years.Preoperative urinary CT scan,cystoscopic examination and transurethral resection of bladder tumor were performed for diagnosis.Among these,2 patients underwent side-to-side bowel anastomosis using a linear stapler,while hand-sewn anastomosis was performed in the other 2 patients.The detubularized bowel segment was arranged in a U shape,and then the two medial borders were closed to create the posterior wall of the neobladder,which completed a partial U shape and anastomosed with the end of urethra.After placing the single J stents into the ureter,the uretero-neobladder was anastomosed.To close the urine reservoir,each border of the U-shaped segment was folded again and sutured to form a sealed pouch.Results All operations were performed successfully.The average operation time for RARC was 93.2 min (ranging 79-117 min).The average operation time for urinary diversion was 214.2 min (ranging 163-251 min).The mean estimated blood loss was 304.5 ml (ranging 200-400 ml).The mean hospital stay was 20.5 d (ranging 13-32 day).The number of dissected lymph node ranged from 11 to 16 (mean 3.7 ± 2.6).All the surgical margins were negative.The time for postoperative out-of-bed activity and bowel function recovery was 2-3 days and 3-4 days,respectively.The single-J stents were removed 1 months after operation,generally.No urine leakage was noticed after removing the drainage tube and catheter.The lymph leakage was observed in one case,which was resolved 15 days post-operatively after given nutrient therapy.The performance of urinary continence was satisfactory,except one patient complained about the nocturnal incontinence.After the regular pelvic exercise,the symptom improved two months after the operation.Hydronephrosis and intestinal leakage were not observed.Conclusions Our initial experience showed that RARC with TIOIN is feasible and alterative for experienced surgeon.

Objective To review the clinical characteristics of prostate mucinous adenocarcinoma cases and update literatures,and recommend the corresponding clinical treatment strategy.Methods From October 2010 to March 2018,36 cases of prostate mucinous adenocarcinoma were involved from 5 urinary centers in China,including 9 cases from Shanghai Changhai Hospital,4 cases from Wuhan Tongji Hospital,13 cases from Shanghai Renji Hospitals,8 cases from the First Affiliated Hospital of Nanjing Medical University,and 2 cases from Sichuan West China Hospitals.The patients' age were (66.8 ±7.2) years (53-83 years) and the median PSA was 22.89 ng/ ml (2.67-1786 ng/ ml).Prostate biopsy confirmed Gleason score 3 + 3 points in 6 cases,3 + 4 points in 9 cases,4 + 3 points in 5 cases,8 points in 11 cases,and 9 to 10 points in 5 cases.According to D'Amico risk stratification,2 patients were in the low-risk group,9 in the intermediate-risk group,and 25 in the high-risk group.Eight cases underwent radical retroperitoneal prostatectomy,13 cases underwent laparoscopic radical prostatectomy,and 12 cases underwent robotic laparoscopic radical prostatectomy.Twenty-three cases underwent pelvic lymphadenectomy,including 12 cases of bilateral obturator lymph node dissection,and 11 cases of bilateral obturator + intraorbital + para-vascular para-aortic lymphadenectomy.Results All 36 operations were completed successfully.Twenty-three cases underwent pelvic lymphadenectomy,including 12 of bilateral obturator lymph node dissection,and 11 of bilateral obturator,intraorbital,and para-aortic lymphadenectomy.Pathological examination showed 9 cases of prostate mucinous adenocarcinoma,26 cases of mucinous adenocarcinoma with acinar adenocarcinoma,and 1 case of mucinous adenocarcinoma with neuroendocrine and immunohistochemical positive of MUC2 (+).Among 33 cases undergoing radical surgery,the pathological stage of ≤T2b in 12 cases (36.3％),T2c in 7 cases (21.2％),T3a in 7 cases (21.2％),T3b in 6 cases (18.2％),and T4 in 1 case (3.0％).Four cases had positive pelvic lymph nodes and 9 cases had positive margin.The median follow-up period was 26 months (6-48 months).The biochemical recurrence occurred in 6 patients one year after surgery,including 3 cases in the intermediaterisk group and 3 cases in the high-risk group.Six cases with postoperative biochemical recurrence and 19 cases with PSA ＞ 0.2 ng/ml after radical or palliative resection underwent adjuvant androgen deprivation therapy(ADT),no postoperative adjuvant radiotherapy or chemotherapy was administered,and 4 cases progressed to castration-resistant prostate cancer.Four cases with CRPC were in the high-risk group and had underwent radical surgery,and the median period progressed to CRPC was 26 months(3-37months)with 2 cases of death.However,there was no significant difference in the rate of biochemical recurrence and the incidence of CRPC in the low-risk group,the intermediate-risk group and the high-risk group.In addition,2 cases had metastases,with pelvic MRI presenting pelvic multiple nodular mass in one case which was consistent with recurrence and metastasis at the 5th month after radical surgery,and pathological examination presenting the mucinous adenocarcinoma being neurosecretory in another case and mestastasis being detected on glans at the 3rd months after radical surgery.The recovery rate of urinary continience at 6 and 12 months after radical surgery was 86.2％ (31/36) and 89.7％ (32/36) respectively.Conclusions Prostate mucinous adenocarcinoma is a variant of acinar adenocarcinoma.This study clarifies prostate mucinous adenocarcinoma of Chinese patients with high Gleason scores,advanced pathological stage,variant in prognosis,and prone to recurrence and metastasis.For treatment strategy,the low-risk and intermediate-risk mucinous adenocarcinoma is recommended undergoing radical surgery,and the prognosis maybe good.High-risk mucinous adenocarcinoma could treated with radical surgery or palliative surgery with adjuvant ADT,and most high-risk patients can benefite,with a small number of poor prognosis.

Objective:To assess the safety and feasibility of complete lateral position endoscopic combined intra-renal surgery (ECIRS) in treatment of staghorn kidney calculi.Methods:The clinical data of 105 patients with staghorn kidney calculi from March 2016 to July 2022 in the First Hospital of Shanxi Medical University were retrospectively analyzed. Among them, 55 patients were treated with lateral position percutaneous nephrolithotomy (PCNL) (PCNL group), and 50 patients were treated with complete lateral position ECIRS (ECIRS group). The operative time, removal time of double J-tube, postoperative hospital stay, postoperative hemoglobin decrease value, operative complications (using Clavien-Dindo grading criteria), additional postoperative intervention and calculi free rate were compared between two groups.Results:Both groups of patients were successfully operated. The operative time, postoperative hemoglobin decrease value and rate of additional postoperative intervention in ECIRS group were significantly lower than those in PCNL group: (98.3 ± 19.1) min vs. (103.4 ± 16.5) min, (9.34 ± 3.04) g/L vs. (12.55 ± 4.75) g/L and 8.00% (4/50) vs. 21.82% (12/55), the calculi free rate was significantly higher than that in PCNL group: 90.00% (45/50) vs. 74.55% (41/55), and there were no statistical differences ( P<0.05 or <0.01); there were no statistical differences in the removal time of double J-tube, postoperative hospital stay, incidence of Clavien-Dindo≥ grade Ⅱ operative complications between two groups ( P>0.05). Conclusion:The complete lateral position ECIRS is a safe and effective treatment for staghorn kidney calculi, and is a good complement to the ECIRS technique because of its high stone free rate in phase Ⅰ, low complication incidence and easy dissemination.

Objective To retrospectively analyse the outcomes following primary Sutureless technique used in our hospi-tal for neonates with total anomalous pulmonary venous connection(TAPVC)and sum up surgical operative experiences. Meth-ods Date were collected retrospectively in 42 neonates who underwent primary Sutureless technique for TAPVC between Janu-ary 2008 and December 2015. Cardiopulmonary bypass time,aortic clamped time,velocity of pulmonary veins and other relat-ed data were recorded during and after operation. Results There were 31 males and 11 females with median age of 8. 0 days old,of whom 25 were supracardiac TAPVC(59. 5％)and 17 were infracardiac TAPVC(40. 5％). After operation, 1 neonate died and none suffered from pulmonary vein obstruction(PVO). In follow-up period,there was 1 neonates suffered from PVO. Six neonates came back to hospital again because of septicemia,poor wound healing,bronchopneumonia and incomplete intesti-nal obstruction. Conclusion Sutureless technique is a wise surgical strategy for neonates with TAPVC for better outcomes and decreasing postoperative mortality rate and recurrence rate of PVO.

Objective To investigate the status of radiological protection in Baoji City. Methods Using the questionnaire survey method, the survey forms were sent to the radiology clinics and other relevant units in the counties and districts of the city to investigate the basic situation of radiology and treatment of medical and health institutions, basic information of radiology and treatment equipment, personal information of radiation workers, and health monitoring of radiation workers. Results There is 1.13 X-ray diagnostic equipment per 10, 000 people, 0.015 radiotherapy equipment per 10, 000 people in Baoji City, and One million people own 11.4 CTs. There are 1, 102 radiation workers in Baoji City, and 2.92 per 10, 000 people. The occupational health check rate of medical radiation personnel was 87.7% within 2 years, the personal dose monitoring rate was 90.4%, the radiation worker training rate was 73.6% within 2 years, about the holding rate of "Radiation Staff Certificate" in Baoji City was 73.0%, and the occupational health file rate was 89.2%. The evaluation indexes of various health monitoring were lower, especially in township hospitals (35.7%～50.8%). Conclusion On the whole, the number of radiological diagnosis and treatment equipment is small, and Class A large equipment is almost blank. The city is stronger than the county in health monitoring. The status of health monitoring is very different from urban to rural areas.

Objective    To investigate the effect of postoperative use of levosimendan on patients with valve replacement. Method    Patients with valvular diseases who underwent valve replacement were prospectively enrolled during Jan 2014 to May 2018 in Qingdao Municipal Hospital, randomized to a levosimendan-treated group (n=93) and a control group (n=92) preoperatively. Patients in both groups underwent the same routine treatment preoperatively and postoperatively. In addition, patients in the levosimendan-treated group underwent levosimendan intravenous infusion 24 hours after entering ICU postoperatively. The clinical effect of the two groups was compared. Results    Compared to the control group, the cardiac output(CO, 5.2±1.0 L/min vs. 4.4±1.1 L/min on the seventh day after surgery) and left ventricular ejection fraction (LVEF, 55.7%±2.5% vs. 50.5%±2.2% on the seventh day after surgery) of levosimendan-treated group were increased significantly at different time points(1 day, 3 days and 7 days after surgery)(P<0.05), and the brain natriuetic peptid (BNP) level (312.5±34.6 pg/ml vs. 455.4±45.2 pg/ml on the seventh day after surgery) was less than that of the control group (P<0.05). The dosage (11.5±1.8 mg/kg vs. 20.4±2.1 mg/kg) and administration time of vasoactive agents in the levosimendan-treated group were significantly lower or shorter than those in the control group (70.4±11.2 h vs. 110.5±12.1 h, P<0.05). The ICU stay length, and the total incidence of adverse events were less than those of the control group (P<0.05). Conclusion    Postoperative use of levosimendan immediately after surgery can significantly improve the   cardiac function status of patients who underwent valve replacement, reduce the dosage of vasoactive agents, shorten the time of ICU hospitalization, reduce the incidence of adverse events and enhance the patient’s recovery after valve replacement.

Objective    To explore the relationship between obstructive sleep apnea-hypopnea syndrome (OSAHS) and aortic dissection (AD). Methods    Fifty three patients with AD diagnosed by CTA in our hospital from January 2016 to January 2018 were selected. All the patients with AD were scored by the STOP-BANG questionnaire. The patients who scored more than or equal to 3 received polysomnography (PSG) after surgical or conservative treatment, and according to whether the sleep apnea-hypopnea index was higher than or equal to 5. Fifty-three patients were divided into an OSAHS group and a non OSAHS group. Results    There were 18 patients with 17 males and 1 female at average age of 43.3±8.4 years in the OSAHS group, and 35 patients with 23 males and 12 females at average age of 56.6±12.9 years in the non OSAHS group. There was no statistical difference between the two groups in the Stanford classification of aortic dissection, the time of onset, personal history, the history of diabetes, coronary heart disease and hyperlipidemia, or post-treatment systolic/diastolic blood pressure before sleep (P>0.05). The age of patients in the OSAHS group was significantly less than that in the non OSAHS group (P<0.01), the proportion of men/women (P=0.021), weight (P<0.01), height (P=0.028), body mass index (P<0.01), and post-treatment systolic/diastolic blood pressure after waking up (P=0.028,P=0.044) in the OSAHS group were significantly higher than those in the non OSAHS group. In the OSAHS group, the proportion of previous hypertension was significantly higher than that in the non OSAHS group (P=0.042).   Conclusion    AD patients combined with OSAHS are mostly male patients. The number of young and high-fat people is significantly more than that in the non OSAHS group. OSAHS may be one of the risk factors for young, high-fat men with AD.