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Objective To investigate the clinical characteristics of Charcot-Marie-Tooth disease(CMT),and conduct genetic analysis.Methods The clinical data of 2 families were retrospectively analyzed.Results The proband of family 1 had atrophy of bilateral thigh and calf muscles,serum creatine kinase(CK)was 292 U/L,and EMG examination showed peripheral nerve damage of upper and lower limbs(mainly axonal).Genetic testing revealed that the proband carried a heterozygous mutation of NEFH:NM_02107:c.3057dupG:p.K1020Efs*43.According to American College of Medical Genetics and Genomics(ACMG),the variant of NEFH gene was interpreted as likely pathogenic(PS3_moderate+PM2+PM4+PP1).The proband of family 2 had scoliosis,calf muscle atrophy,flat foot,blood creatine kinase 80 U/L,and EMG examination showed peripheral nerve damage in the upper and lower limbs(mainly axonal).Genetic testing revealed that the proband carried a heterozygous mutation of the MFN2:NM_014874:c.746C>G:p.S249C.This mutation had not been reported and included in the relevant literature,and was likely to be pathogenic according to the ACMG regulation rating(Likely Pathogenic:PM1+PM2+PM5+PP3).Conclusions The clinical manifestations of the two families are muscle weakness with muscle atrophy,normal or mild elevation of creatine kinase,disappearance of tendon reflex,arched foot,and electromyography indicating neurogenic damage.Gene testing reveals that the probands carried heterozygous mutations in the NEFH and MFN2 genes,respectively.
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Objective:To analyze the clinical value of fine needle aspiration biopsy combined with real-time elastography in the diagnosis of thyroid nodules.Methods:From May 2018 to November 2019, 40 patients(58 nodules) with thyroid nodules who underwent fine needle aspiration biopsy and real-time elastography in Heshan People's Hospital were randomly selected, and the results were compared with surgical pathology.Fine needle aspiration biopsy, real-time elastography, and the combined diagnostic value of both were evaluated and the influencing factors were analyzed.Results:Among the 40 cases (58 nodules) of thyroid nodules, 41 nodules (41/58, 70.689%) and 17 nodules (17/58, 29.311%) were benign and malignant.The sensitivity, specificity, positive predictive value, negative predictive value, the area under the ROC curve of fine needle biopsy, real-time elastography outside the joint detection were 88.645%, 86.496%, 88.424%, 85.453% and 0.843, respectively, which were higher than the single index, the differences were statistically significant (χ 2=6.131, 5.164, 5.1427.196, 7.668, all P<0.05). The sensitivity(84.3%, 90.2%), specificity (83.4%, 97.9%) of fine needle biopsy combined with real-time ultrasound elastography in the diagnosis of thyroid nodules without merge calcification or Hashimoto's thyroiditis were significantly higher than those in the diagnosis of merged thyroid nodule calcification or Hashimoto's thyroiditis [sensitivity (80.2%, 84.2%), specificity (75.2%, 96.5%)], the differences were statistically significant (χ 2=3.154, 2.166, all P<0.05). Conclusion:Compared with the individual detection indicators, fine needle aspiration biopsy combined with real-time elastography has higher sensitivity and specificity in the diagnosis of thyroid nodules, and thyroid nodules with/without calcification or Hashimoto's thyroiditis is an important factor affecting diagnosis.
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Objective To investigate the risk factors of urinary tract infection after flexible ureteroscopy combined with holmium laser lithotripsy for kidney calculi with human immunodeficiency virus infection.Methods A total 96 patients from June 2016 to June 2018 were analyzed retrospectively.It included 53 males and 43 females,aged 21 to 57(average 41) years old.All patients were diagnosed with kidney stones by KUB,IVU and CT examination.19 cases of bilateral kidney stones and 37cases in left and 40 cases in right.67 cases of single stones and 29 cases of multiple.There were 34 cases of renal pelvis calculi,19 cases of meddle calyx,17 cases of superior calyx and 26 cases of inferior calyx.Maximum diameter of calculus was 0.8-2.9 cm,average (1.6 ± 0.8) cm,of which 49 cases size were over 2 cm.There is no obvious stenosis of the renal pelvis and ureter.There were 29 cases of CD4 + lymphocyte count ≤400/μl,and 26 cases of preoperative ureteral stents.Urine test and urine bacterial culture were confirmed no urinary tract infection before lithotripsy.46 cases with abnormal white blood cells due to urinary test could not meet the diagnostic criteria for urinary tract infection,and prophylactic antibiotics,51 cases without antibiotics.All 96 cases underwent lithotripsy and record postoperative conditions.Then single factor analysis and multi-factor logistic regression analysis were used to analyze the related factors of urinary tract infection after lithotripsy.Results All 96 cases were successfully completed,no open surgery,no complications.The operation time was 40-130 min (average 57 min),of which 34 cases were over 60 min.Postoperative retained catheter time was 2 to 11 days (average 3.5 days),of which 27 cases were over 7 days.Urinary tract infection occurred in 18 of all patients,with an incidence of 18.8%.The results of urinary bacterial culture in 18 cases were 13 cases of Escherichia coli infection,3 cases of Proteobacteria infection,and 2 cases of fecal cocci infection.There were 14 cases of calculi size over 2 cm,10 cases of CD4+ lymphocyte count ≤ 400/μ l,11 cases of preoperative ureteral stents,3 cases of prophylactic antibiotics,11 cases of operation time over 60 min,and 10 cases of postoperative retained catheter over 7 days.Single factor analysis found that CD4 + lymphocyte count ≤400/μl,preoperative ureteral stents,larger calculi size,longer operation time,postoperative retained catheter for a long time could increase the risk of urinary tract infection after operation (P < 0.05),Preoperative prophylactic antibiotics could reduce the incidence of postoperative infection (P < 0.05).Multivariate logistic regression analysis suggested that CD4 + lymphocyte count ≤400/μl,preoperative ureteral stents,calculi size over 2 cm,operation time more than 60 min,postoperative retained catheter more than 7 days,and no prophylactic antibiotics before surgery were risk factors for postoperative urinary tract infection(P < 0.05).Conclusions CD4 + lymphocyte count ≤ 400/μl,preoperative ureteral stents,calculi size over 2 cm,operation time more than 60 min,postoperative retained catheter more than 7 d,and no preventive use of antibiotics before surgery are risk factors for urinary tract infection after flexible ureteroscopy combined with holmium laser lithotripsy with human immunodeficiency virus infection.
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Objective@#To investigate the risk factors of urinary tract infection after flexible ureteroscopy combined with holmium laser lithotripsy for kidney calculi with human immunodeficiency virus infection.@*Methods@#A total 96 patients from June 2016 to June 2018 were analyzed retrospectively. It included 53 males and 43 females, aged 21 to 57(average 41) years old. All patients were diagnosed with kidney stones by KUB, IVU and CT examination. 19 cases of bilateral kidney stones and 37cases in left and 40 cases in right. 67 cases of single stones and 29 cases of multiple. There were 34 cases of renal pelvis calculi, 19 cases of meddle calyx, 17 cases of superior calyx and 26 cases of inferior calyx. Maximum diameter of calculus was 0.8-2.9 cm, average(1.6±0.8)cm, of which 49 cases size were over 2 cm. There is no obvious stenosis of the renal pelvis and ureter. There were 29 cases of CD4+ lymphocyte count ≤400/μl, and 26 cases of preoperative ureteral stents. Urine test and urine bacterial culture were confirmed no urinary tract infection before lithotripsy. 46 cases with abnormal white blood cells due to urinary test could not meet the diagnostic criteria for urinary tract infection, and prophylactic antibiotics, 51 cases without antibiotics. All 96 cases underwent lithotripsy and record postoperative conditions. Then single factor analysis and multi-factor logistic regression analysis were used to analyze the related factors of urinary tract infection after lithotripsy.@*Results@#All 96 cases were successfully completed, no open surgery, no complications. The operation time was 40-130 min (average 57 min), of which 34 cases were over 60 min. Postoperative retained catheter time was 2 to 11 days (average 3.5 days), of which 27 cases were over 7 days. Urinary tract infection occurred in 18 of all patients, with an incidence of 18.8%. The results of urinary bacterial culture in 18 cases were 13 cases of Escherichia coli infection, 3 cases of Proteobacteria infection, and 2 cases of fecal cocci infection. There were 14 cases of calculi size over 2 cm, 10 cases of CD4+ lymphocyte count≤400/μl, 11 cases of preoperative ureteral stents, 3 cases of prophylactic antibiotics, 11 cases of operation time over 60 min, and 10 cases of postoperative retained catheter over 7 days. Single factor analysis found that CD4+ lymphocyte count≤400/μl, preoperative ureteral stents, larger calculi size, longer operation time, postoperative retained catheter for a long time could increase the risk of urinary tract infection after operation (P<0.05), Preoperative prophylactic antibiotics could reduce the incidence of postoperative infection (P<0.05). Multivariate logistic regression analysis suggested that CD4+ lymphocyte count ≤400/μl, preoperative ureteral stents, calculi size over 2 cm, operation time more than 60 min, postoperative retained catheter more than 7 days, and no prophylactic antibiotics before surgery were risk factors for postoperative urinary tract infection(P<0.05).@*Conclusions@#CD4+ lymphocyte count ≤400/μl, preoperative ureteral stents, calculi size over 2 cm, operation time more than 60 min, postoperative retained catheter more than 7 d, and no preventive use of antibiotics before surgery are risk factors for urinary tract infection after flexible ureteroscopy combined with holmium laser lithotripsy with human immunodeficiency virus infection.
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Objective To discuss the efficacy of the flexible ureteroscopy combined with Holmium laser lithotripsy for kidney calculi with HIV positive patients.Methods From May 2015 to May 2016,47 cases of patients with renal calculi were treated by the flexible ureteroscopy combined with Holmium laser lithotripsy in our hospital.There were 29 cases male,18 cases female,aged from 22 to 56 years old,average 39 years.There were 38 cases with single stone,9 cases with multiple stones.There were 9 cases with stones on both sides.Flexible ureteroscopy channel sheath was used in surgery.Stones were fragmented by Holmium laser.During one-month follow-up after surgery,stone removal and stone free rate were recorded.Residual stones were re-treated with a secondary lithotripsy or ESWL.Results The flexible ureteroscopy channel sheath was indwelled successfully in all the cases.All stones were detected.The average operation time was 63min (range,42-141min) and the median postoperative stay was 4.5days (range,2-16 d).Among the 47 patients,41 patients underwent first-stage lithotripsy,6 patients underwent second-stage ESWL after lithotripsy,and 1 patient underwent third-stage lithotripsy.The one-month stone free rate was 87.2% (41/47).The total stone free rate was 97.9% (46/47) after second-stage lithotripsy.Postoperative fever occurred in 4 cases after lithotripsy.No blood transfusion,systemic infection,ureteral perforation,or ureteral avulsion occurred.The total complication rate was 8.5% (4/47).The mean number of CD4 +T lymphocytes before lithotripsy was 402/μl,and was 410/μl 3 days after lithotripsy.There was no Statistical differences between them.Conclusions Flexible ureteroscopy combined Holmium laserlithotripsy could be a safe and effective treatment for kidney calculi patients with HIV/AIDS positive.
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Objective To investigate the high-risk factors leading to a poor prognosis of small renal cell carcinoma, and provide theoretical basis for the individualized treatment regimen. Methods This retrospective study analyzed the clini?cal and histological data of 18 patients with small renal cell carcinoma treated in the Department of Urology of the Second Hospital of Tianjin Medical University from January 2004 to July 2015. All the patients underwent ultrasound, plain and en?hanced CT examinations, also, received the surgeries. The tumor diameters, pathological types, pathological stages, Fuhrman grading of tumors and the prognosis of patients were analyzed. Results Preoperative CT examination revealed that 18 pa?tients with the average tumor diameter of (3.1 ± 0.6) cm (ranged 2.0 to 4.0 cm). Five patients were diagnosed as T1aN0M0, 4 patients with T1aN0M1 (3 cases with lung metastasis, 1 case with brain metastasis), 3 patients with T1aN1M0 (CT examina?tion showed a lymph node metastasis), 6 patients with T3aN0M0 (renal vein invasion or renal vein tumor thrombus). Patholog?ical examination after surgery showed that 12 patients were Fuhrman gradeⅡ, 5 were gradeⅢand 1 was gradeⅣ;15 cases were clear cell carcinomas, 1 case was papillary carcinoma, 1 was hybrid cellular tumor (malignant rhabdoid tumor with sar?comatoid differentiation) and the last case was sarcomatoid carcinoma renal cell carcinoma (Fuhrman grade V). 4 patients (T3a, Fuhrman grade Ⅱ) underwent retroperitoneal laparoscopic partial nephrectomy and the remaining underwent laparo?scopic radical nephrectomy. The median follow-up time was 22.5 months (ranged 6 to 48 months). Four cases died (2 cases with tumor diameters of 3.8 cm and 4.0 cm at preliminary diagnosis,2 cases with sarcomatoid renal carcinoma and 1 with brain metastasis), 1 case was lost. Other patients were found no tumor recurrence and metastasis. Conclusion The small re?nal cell tumor with diameter≥3.0 cm, FuhrmanⅢ/Ⅳgrade,sarcomatoid cancer or metastasis should be considered as high-risk factors of small renal cell carcinoma. The high-risk small renal cell carcinoma is heterogeneous in its biological behav?ior, which is expressed as aggressive growth and early invasion of renal tissue and even metastasis. The individualized treat? ment should be made based on preoperative imaging findings and postoperative pathology.
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<p><b>OBJECTIVE</b>To compare the clinical effectiveness and safety of alpha-blocker alone and combined tamsulosin with an anticholinergic drug for bladder outlet obstruction (BOO) with overactive bladder (OAB).</p><p><b>METHODS</b>Literature search was performed using PubMed, EMBASE, Ovid, Wanfang, and CNKI from inception to October 2013 for comparative studies assessing alpha-blocker alone and combined alpha-blocker with an anticholinergic drug for BOO+OAB. Data were extracted and evaluated by two reviewers independently according to the Cochrane Handbook for systematic reviews. Meta-analyses were conducted using RevMan 5.2.</p><p><b>RESULTS</b>A total of 7 studies involving 3 458 patients were included for the analysis. The values of total IPSS and storage IPSS reduced significantly after treatment in combination group (RR = -0.23, 95%CI: -0.44--0.02, P = 0.03; RR = -0.69, 95%CI: -0.88--0.51, P < 0.01). There were no significant differences between the two groups in voiding IPSS and Qmax (P = 0.86 and 0.89). The incidences of dry mouth (OR = 2.53), constipation (OR = 3.74), dizziness (OR = 0.73), and urinary retention (OR = 0.26) were higher in combination group than in alpha-blocker alone group (P < 0.05). But most adverse events were mild in degree.</p><p><b>CONCLUSION</b>Alpha-blocker combined with an anticholinergic drug in the treatment of BOO+OAB was better than that of alpha-blocker alone, and was safe and well tolerated.</p>
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Humans , Adrenergic alpha-Antagonists , Therapeutic Uses , Cholinergic Antagonists , Therapeutic Uses , Drug Therapy, Combination , Sulfonamides , Therapeutic Uses , Treatment Outcome , Urinary Bladder Neck Obstruction , Drug Therapy , Urinary Bladder, Overactive , Drug TherapyABSTRACT
Objective To evaluate the diagnostic value of myocardial enzymes on the cardiac muscle injury for the children with acute mycoplasma pneumonia(MP).Method The levels of phosphocreatine kinase-MB(CK-MB),lactate dehydrogenase(LDH),aspartate aminotransferase(AST)in 48children with MP(MP group)were measured,48 normal children served as control group.Results The levels of AST,LDH,CK-MB were(37.18±6.15),(294.10±46.20),(84.50±13.70)U/L in acute stage in MP group,they were higher than those in control group[(25.14±10.50),(140.50±76.21),(19.50±4.10)U/L](P<0.01).All the values above was descended in recovery phase in MP group,but the values of CK-MB[(27.80±8.40)U/L]and LDH[(189.50±69.73)U/L]were still higher than those in control group(P<0.01 or<0.05).Conclusions Children with MP may combine myocardial injuries and CK-MB isa parameter to diagnose the damage.Protection therapy for cardiac muscle should be performed on the children with MP.
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Objective To assess the safety and efficacy of percutaneous nephrolithotripsy withpneumatic and ultrasonic power in pediatric renal calculi. Methods The clinical data of 44 patientstreated with combination of pneumatic and ultrasonic power during pereutaneous nephrolithotripsywere retrospectively analyzed. The 44 patients had 49 renal calculi. The patients were all under 14years old. The average age was 11 years (range 7-14 years). There were 39 unilateral and 5 bilateralcalculi. Among the 44 patients,metabolic disturbance occurred in 19 cases (43.2%),anatomical dys function occurred in 15 cases (34.1%),urinary tract infection occurred in 14 cases (31.8%). Ante grade percutaneous access was established under ultrasound guidance,a combination of pneumatic andultrasonic lithotripsy were used. The effect was evaluated by postoperative KUB and ultrasonic. Re suits The access was successfully established in all patients. Complete stone clearance was achievedin 36 kidneys in phase Ⅰ,stones from 9 kidneys were completely removed with second lithotripsy.Leftover stone in 2 kidneys were treated by ESWL. Open surgery was performed in 2 kidneys due toexcessive bleeding. The operative time ranged from 52 132 min,average time was 79 min. Two pa tients needed blood transfusion. No severe complications occurred in all patients. Thirty seven pa tients were followed up for 3 18 months. The renal function was not worsened and hydronephrosiswas not aggravated in these patients. Conclusion The percutaneous nephrolithotripsy with pneumatic and ultrasonic power is a safe,effective treatment for pediatric renal calculi.
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Objective To investigate the protective effect of Fas ligand (FasL) gene transfer to renal allografts in rats. Methods FasL recombinant adenovirus vector was contruccted and transduced into rat renal allografts by renal artery perfusion. RT-PCR and immunohistochemistry were use d to detect the expression of exogenous FasL gene. Electronic microscopy was use d to observe the changes in the ultra-structure. At the same time, mean surviva l of animals and the level of serum creatinine were observed. Results FasL mRNA and protein were positively expressed in FasL gene transduced renal al lografts. FasL protein mainly distributed in renal small artery, glomerular and proximal tubues. FasL transduced allografts had less renal graft rejection and c hange in the ultra-structure, and prolonged allograft survival and lower serum creatinine as compared to control animals (P