Blood Cells ; cytology ; Bone Marrow Cells ; cytology ; China ; Hematologic Tests ; standards ; Humans

Acute Disease ; Adolescent ; Adult ; Child ; Humans ; Leukemia ; diagnosis ; drug therapy ; Neoplasm, Residual ; Remission Induction

Humans ; Leukemia, Large Granular Lymphocytic

China ; Clinical Laboratory Techniques ; Humans ; Myelodysplastic Syndromes ; diagnosis

Child ; Humans ; Myelodysplastic Syndromes ; classification ; diagnosis ; Pediatrics ; World Health Organization

OBJECTIVETo discuss the results and significance of the detection of the CFTR gene mutation in azoospermia patients with congenital unilateral absence of the vas deferens (CUAVD).

METHODSWe collected peripheral blood samples from 6 azoospermia patients with CUAVD for detection of the CFTR gene mutations and single nucleotide polymorphisms. We analyzed the genome sequences of the CFTR gene in comparison with the website of the UCSC Genome Browser on Human Dec. 2013 Assembly.

RESULTSMissense mutation of c. 592G > C in exon 6 was found in 1 of the 6 azoospermia patients with CUAVD and splicing mutation of c. 1210-12T[5] was observed in the noncoding region before exon 10 in 2 of the patients, both with the V470 haplotype in exon 11.

CONCLUSIONMutations of the CFTR gene can be detected in azoospermia patients with CUAVD and the detection of the CFTR gene mutation is necessary for these patients.

Azoospermia ; genetics ; Cystic Fibrosis Transmembrane Conductance Regulator ; genetics ; Exons ; Humans ; Male ; Male Urogenital Diseases ; genetics ; Mutation, Missense ; genetics ; Vas Deferens ; abnormalities

OBJECTIVETo observe the correlation between constitution of yin deficiency syndrome (YDS) and polymorphism of HLA-DQA1/treatment response of Peg-lFNalpha therapy in HBeAg positive chronic hepatitis B (CHB) patients, and to explore constitution of Chinese medicine (CM) in response of interferon therapy.

METHODSTotally 120 HBeAg positive CHB patients who were treated with Peg-IFNalpha were enrolled, and assigned to YDS group (59 cases) and non-YDS group (61 cases) according to classification of CM constitutions. All patients were subcutaneously injected with Peg-IFNalpha-2b (1.0 microg/kg body weight) or Peg-IFNalpha-2a (180 microg), once per week. Effective efficacy was primarily judged when complete response (CR) or partial response (PR) was obtained at month 6. Those with CR or PR completed 1 year therapeutic course. HLA-DQA1 gene types were detected by polymerase chain reaction sequence specific primers (PCR-SSP). The distribution difference of CM constitutions in patients with CR or PR and their inter-group HLA-DQA1 allele frequency were compared.

RESULTSDifferent treatment responses of Peg-IFNalpha were observed in CHB patients of two different CM constitutions. The ratio of CR + PR was 61.0% (36/59) in YDS group, obviously lower than that in NYDS group [78.7% (48/61), P < 0. 05]. Patients with CR had a lower allele frequency of HLA-DQA1 * 0501 than those with no-response [14.8% (8/54) vs. 30.6% (22/72)] with statistical difference (P < 0.05). Patients with CR had a higher allele frequency of HLA-DQA1 * 0601 than those with no-response [18.5% (10/54) vs. 5.6% (4/72)] with statistical difference (P < 0.05). The allele frequency of HLA-DQA1 * 0301 was lower in YDS group than in non-YDS group [2. 5% (3/118) vs. 9.8% (12/122)] with statistical difference (P < 0.05). The allele frequency of HLA-DQA1 * 0501 was higher in YDS group than in non-YDS group [33.9% (40/118) vs. 18.9% (23/122)] with statistical difference (P < 0.05). Yet statistical significance was lost after adjustment (Pc > 0.05 for both).

CONCLUSIONSBoth constitutions of CM and HLA-DQA1 gene polymorphism af- fect HBeAg positive CHB patients' response to Peg-INFalpha. Constitutions of YDS and HLA-DQA1 * 0501 was not favorable to response, their association needed to be further studied.

Antiviral Agents ; therapeutic use ; Gene Frequency ; HLA-DQ alpha-Chains ; genetics ; Hepatitis B e Antigens ; blood ; Hepatitis B, Chronic ; drug therapy ; genetics ; Humans ; Interferon-alpha ; therapeutic use ; Medicine, Chinese Traditional ; Polyethylene Glycols ; therapeutic use ; Polymorphism, Genetic ; Recombinant Proteins ; therapeutic use ; Remission Induction ; Yin Deficiency ; genetics

Objective To investigate the prevalence of voice disorder and voice fatigue mental state in the pri-mary school teachers in a district of Chengdu.Methods A random sampling survey included 389 teachers from a dis-trict of Chengdu after they filled out the throat symptoms questionnaire,carried out voice fatigue tests,and strobo-scopic laryngoscopy.Results The most common voice of discomfort symptoms was hoarseness,followed by sore throat,dry throat and vocal fatigue.There were 189 teachers,48.5%,with voice disorders as the voice disorder group)and 200 teachers without throat and voice disorders as the control group.The failure rate was significantly higher at 80 dB than 75 dB,and for the study group,the failure rate was higher than that of the control group.The difference was statistically significant in 1,2 and 10 minutes between the two groups(P <0.05).Conclusion Voice fatigue is very common in the primary school teachers and when high volumes are required,the voice fatigue is more serious.To reduce voice fatigue and the incidence of primary school teachers'voice disease,we should strengthen the teacher's voice health care.

Objective To analyze the risk factors that affect severe infection following flexible ureteroscope Holmium laser lithotripsy for upper urinary tract calculus,and to construct the regression model and nomogram for predicting the probability of postoperative SIRS.Methods We retrospectively analyzed the clinical data from 457 cases (male 302 and female 155) of upper urinary calculi treated by flexible ureteroscopy from January 2014 to May 2016,with mean age of 49.9 (ranged 20-76) years.The mean maximum size of stones was (16.5 ± 3.0) mm (ranged 12-22rmm).There were 51 cases (11.2％) with a recent infectious febrile history related to stones.The patients were divided into two groups as patients developing SIRS or not.Univariate and multivariate statistical analyses were performed to determine factors affecting the development of postoperative SIRS,and then a nomogram was built based on regression coefficients.Results The incidence of SIRS after flexible ureteroscopic lithtripsy was 5.9％ (27/457).Multivariable logistic regression analysis identified febrile history related to urinary stones (OR =1.5569,P =0.009),without preoperative placement of ureteral stent (OR =1.4004,P =0.004),small-caliber (F 13-14) ureteral access sheath (OR =1.1120,P =0.016),endoscopic signs of infection (OR =2.0176,P =0.000) and infectious stones (OR =1.0981,P =0.013) as independent risk factors for postoperative SIRS.The concordance index was 0.845 in the nomogram model sample and 0.79 in the validation sample.Conclusions Febrile history related to urinary stones,without preoperative placement of ureteral stent,small-caliber ureteral access sheath,endoscopic signs of infection and infectious stones would be independent risk factors to predict SIRS after flexible ureteroscope holmium laser lithtripsy.A nomogram based on perioperative clinical factors could be used to predict the risk of SIRS.

Objective To evaluate the clinical results of posteromedial supine approach plus anterolateral approach for treatment of posteromedial condylar tibial plateau split fracture combined with lateral compartment depression.Methods A retrospective analysis was done on 48 cases of posteromedial condylar tibial plateau split fracture with lateral compartment depression operated through posteromedial supine plus anterolateral approaches from February 2011 through March 2013.There were 37 men and 11 women,aged 15-67 years (mean,42.5 years).Fracture occurred at the left side in 31 cases and at the right side in 17 cases.Interval between injury and operation ranged from 5 to 16 days (mean,8.7 days).Reconstructive or T-shaped plates were used for posteromedial condylar split tibial plateau fracture.Anatomical or locking compression plates were used for lateral compartment depression,but autogenous ilium bone grafting was performed laterally when bone defect was obvious.Results Average operation time was 2.8 hours (range,2-3.5 hours) and average length of stay was 21 days (range,12-45 days).All cases were followed up for mean 12.8 months (range,5-25 months).All fracture healed from 4 to 8 months (mean,6.7 months).Mean Rasmussen score for radiological results was 16.9 points (range,16-18 points) immediately after operation.Hospital for special surgery (HSS) knee score averaged 86.4 points (range,76-95 points) 8 months after bone healed,indicating the excellent results in 27 cases,good in 16 cases,fair in 4 cases and poor in 1 case with a good to excellent rate of 90％.At the last follow-up,postoperative knee range of motion averaged-5°-135°.All incisions healed primarily without vascular nerve injury and implant loosing or breakage.There was an extension lag in 1 case with knee range of motion of 20°-130° and osteoarthritis in 1 case,but both were improved with non-operation therapy.Conclusion Posteromedia] supine plus anterolateral approaches are suitable for posteromedial condylar tibial plateau split fracture with lateral compartment depression,for the combined approaches gain advantages of easy operation,good reduction,rigid fixation,few soft-tissue complications and satisfactory clinical results.