Clinical Significance of Low Expression of LncRNA CASC15 in Acute Myeloid Leukemia with NPM1 Mutations / 中国实验血液学杂志

AbstractObjective: To identify the expression and methylation patterns of lncRNA CASC15 in bone marrow (BM) samples of acute myeloid leukemia (AML) patients, and further explore its clinical significance.@*METHODS@#Eighty-two de novo AML patients and 18 healthy donors were included in the study. Meanwhile, seven public datasets from Gene Expression Omnibus (GEO) and The Cancer Genome Atlas (TCGA) were included to confirm the expression and methylation data of CASC15. Receiver operating characteristic (ROC) curve analysis was applied to determine the discriminative capacity of CASC15 expression to identify AML. The patients were divided into CASC15high group and CASC15low group by X-tile method, and the prognostic value of CASC15 was identified by Kaplan-Meier method and univariate and multivariate Cox regression analysis.@*RESULTS@#The expression level of CASC15 was significantly decreased in BM cells of AML patients compared with healthy donors (P<0.001). ROC curve analysis suggested that CASC15 expression might be a potential biomarker to discriminate AML from controls. The expression of CASC15 was high at the early stage of hematopoiesis, and reached a peak at the stage of multipotent progenitors differentiation, then decreased rapidly, and was at a range of low level fluctuations in the subsequent process. Among FAB subtypes, CASC15 expression in M0 was significantly higher than that in M1-M7. Clinically, CASC15low patients were more likely to have NPM1 mutations than CASC15high patients (P=0.048), while CASC15high patients had a significantly higher frequency of IDH1 and RUNX1 mutations (P=0.021 and 0.014, respectively). Moreover, CASC15low group had a shorter overall survival (OS) in patients with NPM1 mutations. Furthermore, multivariate analysis confirmed that CASC15 expression was a significant independent risk factor for OS in NPM1 mutated AML patients. In addition, CASC15 methylation level in BM samples of AML patients was significantly decreased compared with healthy donors. Patients with CASC15 high methylation had poor OS and disease-free survival.@*CONCLUSION@#The expression of CASC15 is decreased in AML, and low CASC15 expression may predict adverse prognosis in AML patients with NPM1 mutations. Moreover, CASC15 methylation level in AML is significantly decreased, and high CASC15 methylation may predict poor prognosis in AML.

Detection of NPM1 Mutation in Acute Myeloid Leukemia by Droplet Digital PCR and Its Clinical Application Value / 中国实验血液学杂志

OBJECTIVE@#To establish the droplet digital PCR (ddPCR) assay for the detection of NPM1 type A mutation in patients with acute myeloid leukemia (AML), and to evaluate its specificity, sensitivity and its value in clinical application.@*METHODS@#NPM1 mutant and wildtype plasmids were used to verify the performance of ddPCR. Both ddPCR and Sanger sequencing were used to detect the bone marrow samples of 87 AML patients, which were confirmed by next generation sequencing (NGS). Moreover, NPM1 mutation burden was dynamically monitored in five patients by ddPCR.@*RESULTS@#The limit of blank (LOB) of ddPCR established for NPM1 mutation detection was 1.1 copies/μl, and the limit of detection (LOD) was 2.43 copies/μl, which had good linearity. Among the 87 newly diagnosed AML patients, ddPCR identified seventeen cases positive for NPM1 mutation (19.5%)， which was consistent with Sanger sequencing. NGS confirmed 12 positive cases, including 8 of type A mutations, 2 of type D mutations, and 2 of rare type mutations. The results of dynamic monitoring of NPM1 mutation burden in 5 patients showed that the NPM1 mutation burden decreased obviously even close to 0, when patients achieve complete remission after chemotherapy. However, the mutation burden was increased again at the time of relapse.@*CONCLUSION@#In this study, we established a ddPCR method for detection of NPM1 mutation with good sensitivity and repeatability, which can be used for screening NPM1 mutation in newly diagnosed AML patients and for minimal residual disease monitoring after remission in positive AML patients to guide treatment.

Identification and preservation of arm lymphatics in axillary lymph node dissection to prevent arm lymphedema: a single center randomized controlled trial / 中华肿瘤杂志

Objective: To evaluate the feasibility of identification and preservation of arm lymphatics (DEPART) in axillary lymph node dissection (ALND) for breast cancer to prevent arm lymphedema. Methods: A randomized controlled study method was used. Two hundred and sixty-five patients who underwent breast cancer surgery at the Department of Thyroid and Breast Surgery, Zhongnan Hospital of Wuhan University from November 2017 to June 2018 were included, and the patients were randomly divided into ALND+ DEPART group (132 patients) and standard ALND group (133 patients) by random number table method. In the ALND+ DEPART group, indocyanine green and methylene blue were injected as tracers before surgery, and the arm sentinel nodes was visualized by staged tracing during intraoperative dissection of axillary lymph nodes. Partial frozen sections were made of arm lymph nodes >1 cm in length and hard and suspicious of metastasis, and arm lymph nodes and lymphatic vessels were selectively preserved. Patients in the standard ALND group underwent standard ALND. Objective and subjective indexes of arm lymphedema were evaluated by 5-point circumference measurement and Norman questionnaire. Results: Among 132 breast cancer patients in the ALND+ DEPART group, 121 (91.7%) completed DEPART. There were no statistically significant differences in age, body mass index, pathological type, dissection number of axillary lymph node, N stage, TNM stage, molecular typing, and regional radiotherapy between the ALND+ DEPART and standard ALND groups (P>0.05). At a median follow-up of 24 months, assessment by the 5-point circumference measurement showed that the incidence rates of lymphedema in the ALND+ DEPART and standard ALND groups were 5.0% (6/121) and 15.8% (21/133), respectively, with statistically significant differences (P=0.005). Assessment by the Norman questionnaire showed that the incidence rates of lymphedema in the ALND+ DEPART and standard ALND groups were 5.8% (7/121) and 21.8% (29/133), respectively, with a statistically significant difference (P<0.001). No local regional recurrence was observed in either group during the follow-up period. Conclusion: For breast cancer patients with positive axillary lymph nodes, the administration of DEPART during ALND can reduce or avoid the occurrence of arm lymphedema without compromising oncology safety.

Correlation analysis between measurement methods of kidney stone burden and operation time or result of flexible ureteroscopic lithotripsy / 中华泌尿外科杂志

Objective:To evaluate the best parameter of predicting the operation time and clearance of flexible ureteroscopic lithotripsy through comparing correlations between three stone burden parameters (diameter, area, volume) and the operation time or clearance retrospectively.Methods:Clinical data and CT images of 70 patients who performed flexible ureteroscopic lithotripsy because of single kidney stone in our center from January 2018 to December 2019 were retrospectively reviewed. There were 46 males and 24 females; their age was (47±12) years old. Stones were located on the left side in 28 cases and right side in 42 cases; 32 cases in the renal pelvis , 29 cases in the lower calyx, 6 cases in the middle calyx and 3 cases in the upper calyx. The free software ITK-SNAP 3.6.0 to segment kidney stones in 3D models with the CT image was used. The stone volume was calculated automatically after the segment. The largest section of the stone on the CT coronal plane was selected to measure the maximum length (D) and width (d) of the stone, the maximum diameter of the stone was D, and the stone area was calculated using the formula 0.25πDd. The patients were divided by the operation clearance into total clearance group and partial clearance group. The correlations between three stone burden parameters (volume, diameter, area) and operation time or clearance of the flexible ureteroscopic lithotripsy were compared. Simple linear regression model was also applied to compare three measurement methods. Then other factors which may affect the operation time was evaluated with the stepwise linear regression model, such as stone component and location.Results:The median operation time was 63(50, 84)min. Of 70 cases, 47 cases were in the stone-free group, with stone volume 633(248, 1 087)mm 3, maximum diameter 15(10, 19)mm, and area 82(49, 186)mm 2. 23 cases were in the non stone-free group, with volume 696(408, 1 418)mm 3, maximum diameter 15(12, 20)mm, area 105(73, 201)mm 2. There was no difference between the two groups in volume, maximum diameter and area of stones (all P>0.05). The stone-free rate of the diameter >2 cm group was 55% (6/11), ≤2 cm group was 70% (41/59). There was no significant difference between the two groups. Correlation between stone volume and operation time is the best. The correlation coefficient of stone volume is 0.58, of stone diameter is 0.33, of stone area is 0.34. Coefficients of determination of the stone volume linear regression is the best, too. R square of stone volume is 0.36, of stone diameter is 0.17, of stone area is 0.22. Forward stepwise regression model shows stone volume is the most important parameter which correlate with operation time. None of stone volume, diameter or area has significant correlation with the clearance of stone. Conclusion:Stone volume is the best predictive parameter of the stone burden because it has the best correlation with the operation time of the flexible ureteroscopic lithotripsy of the single kidney stone.

Effect of acupuncture combined with rehabilitation training on cognitive function and amino acid metabolism in children with cerebral palsy / 中国针灸

OBJECTIVE@#To observe the effect of acupuncture combined with rehabilitation training on cognitive function and amino acid metabolism in children with cerebral palsy.@*METHODS@#Twenty children with cerebral palsy (cerebral palsy group) were randomly divided into an acupuncture and rehabilitation group (11 cases) and a rehabilitation group (9 cases), and 10 healthy children were included as the normal group. The rehabilitation group was treated with rehabilitation training, 30 min each time; on the basis of rehabilitation training, the acupuncture and rehabilitation group was treated with acupuncture at Sishenzhen, Zhisanzhen, Naosanzhen, Niesanzhen, Dazhui (GV 14), Shenzhu (GV 12), Mingmen (GV 4), etc. The Sishenzhen (left and right points) and the ipsilateral Niesanzhen were respectively connected with a group of electrodes, intermittent wave, frequency of 2 Hz for 30 min. Both groups were treated once every other day, three times a week, totaling for 3 months. The Gesell developmental diagnostic scale (GESELL) was used to evaluate the developmental quotient (DQ) scores before and after treatment, and the blood samples of children with cerebral palsy before and after treatment and normal children were collected for amino acid metabolomics.@*RESULTS@#Compared before treatment, the DQ scores of adaptation, fine motor and social in the acupuncture and rehabilitation group was increased after treatment (@*CONCLUSION@#Acupuncture combined with rehabilitation training could improve cognitive function in children with cerebral palsy, and the effect may be related to the down-regulation of L-histidine and L-citrulline metabolism.

Determination of polyaminopropyl biguanide in cosmetics by high performance liquid chromatography / 上海预防医学

Objective:To establish a high performance liquid chromatographic（HPLC） quantitative method for the determination of polyaminopropyl biguanide（PAPB） in cosmetics. Methods:Different forms of cosmetic samples were prepared by ultrasonic extraction and followed by high speed centrifugation of the extraction solution. The supernatant was degreased by hexane， and then was filtered by 0.22 μm millipore filter. The continued filtrate was taken for analysis. An Agilent reversed phase column， Zorbax SB-C18（5 μm，4.6 mm×250 mm）was used with 0.02 mol/L ammonium acetate buffer （pH=4.8） ： methanol （60∶40） as the mobile phase under the condition of isocratic elution. Diode array detection method was used for PAPB determination. Qualitative and quantitative determination of PAPB was conducted in 51 batches of commercially available cosmetics. Results:The relative standard deviations （RSD） were in the range of 1.2 %-4.4 %（n=6）； the recoveries were in the range of 97.5 %-106.5 %.The method showed a good linearity within the concentration range of 5-1 000 μg/mL with correlation coefficient of 0.999 62； The detection limit was 15 mg/kg. In 51 batches of commercially available cosmetics. One batch of makeup remover showed positive resullt， which was consistent with the UV spectrum of the standard. Conclusion:We have established a HPLC method for accurate quantification of PAPB. It can be used for analyzing the cosmetics products.

Application value of intraoperative neuromonitoring plus "classification of EBSLN" to protect the external branch of the superior laryngeal nerve / 中华耳鼻咽喉头颈外科杂志

Objective: To investigate the application efficacy of the "classification of external branch of superior laryngeal nerve (EBSLN)" combined with intraoperative neuromonitoring (IONM) in the dissection of EBSLN for protecting the nerve from injuery, compared with ligation of branches of the superior thyroid vessels without attempts to visually identify the nerve. Methods: A prospective randomized controled study was performed in our center. Patients subjected to thyroidectomy from January 2017 to June 2019 were randomly divided into 2 groups, patients in experimental group underwent thyroidectomy and "classification of EBSLN" with IONM to dissect EBSLN, and patients in control group received synchronous surgery without attempts to visually identify the nerve. The anatomical subtypes of EBSLN in experimental group were recorded. The voice handicap index 10 (VHI-10) score was evaluated and the movement of bilateral vocal cords was examined by laryngoscope before surgery, 1 month, 3 months, and 6 months after surgery, respectively. SPSS 26.0 statistical software was used for statistical analysis. Results: Among the 1 377 EBSLN from 827 patients (317 males and 510 females, aged 24-58 years old), 691 EBSLNs in experimental group and 686 EBSLNs in control group. Totally 98.3% of EBSLNs in experimental group were identified by IONM including 16.4% (113/691) for type Ⅰ, 21.3% (147/691) for type Ⅱa, 31.4% (217/691) for type Ⅱb, 10.4% (72/691) for type Ⅲa, 3.9% (27/691) for type Ⅲb, 16.6% (115/691) for type Ⅲc. There was no statistical significance difference in baseline data between 2 groups (all P>0.05). All patients were followed up for more than 6 months. The postoperative nerve injury rate of experimental group was significantly lower than that of control group (1.2% vs. 7.5%, χ²=12.659, P<0.001), and the VHI-10 scores and laryngoscope results of experimental group were better than those of control group in three follow-up visits (P<0.001). With postoperative laryngoscope examination, 3 patients in the experimental group and 23 patients in the control group showed vocal cord relaxation, bilateral oblique asymmetry and other phenomena, which were considered as the results of permanent injury. Other patients with symptoms were relieved to varying degrees during the follow-up, and their symptoms were considered as the results of temporary injury. Conclusion: IONM combined with "classification of EBSLN" can reduce significantly the risk of EBSLN injury in thyroidectomy, which is better than direct ligation of branches without attempts to visually identify the nerve.

Parathyroid hormone assay with eluent of aspirated tissues in parathyroidectomy / 中华耳鼻咽喉头颈外科杂志

Objective: To explore the values of intraoperative fine-needle aspiration (IFNA) and parathyroid hormone (PTH) detection in the eluate of aspirated tissue during parathyroidectomy. Methods: Fifty-four patients with secondary hyperparathyroidism (SHPT) including 24 males and 30 females, aged 20-83 years, admitted to Zhongnan Hospital of Wuhan University from January 2019 to October 2019, were included. All patients received subtotal parathyroidectomy with autologous transplantation, during surgery, IFNA and PTH detection in the eluate of aspirated tissue were performed, and also routine postoperative pathological examination was performed. The results of PTH detection in the eluate of aspirated tissue and postoperative pathological examinations were compared and analyzed by SPSS and R software for evaluating of the sensitivity, specificity, positive predictive value, negative predictive value, misdiagnosis rate, missed diagnosis and accuracy. Results: Surgery was completed successfully in all patients. After surgery, the symptoms were improved in the patients except two who were asymptomatic. None had any serious postoperative complications such as hypocalcaemia or hoarseness. A total of 231 aspirated tissue samples were tested, of which 216 were identified as parathyroid and 15 non-parathyroid based on intraoperative PTH detection in tissue eluate; while 217 were confirmed as parathyroid tissues and 14 non-parathyroid tissues with postoperative pathological examinations. The specificity and sensitivity of intraoperative IFNA and PTH detection in tissue eluate for identifying parathyroid tissues were 99.5% and 100.0%, respectively. Conclusion: The IFNA and PTH detection in tissue eluate is a rapid, simple, and accurate procedure, which helps the surgeon to identify parathyroid tissue and to ensure the endocrine activity of preserved or autografted parathyroid tissue during parathyroidectomy.

Quantitative assessment of occupational health risks in workers exposed to low-level dichloromethane / 中国职业医学

OBJECTIVE: To quantitatively evaluate the non-carcinogenic and carcinogenic risks of low-level dichloromethane(DCM) exposure. METHODS: A typical sampling method was used to select workers from an engine factory and an automobile parts factory as the research subjects. After hazard identification and hazard characteristic assessment, the occupational health risks of DCM in the workplace were quantitatively assessed by non-carcinogenic risk assessment and carcinogenic risk assessment. RESULTS: The highest exposure concentration of short-term of DCM was 43.6 mg/m~3 in the air of eight DCM job posts in these two enterprises, which was lower than the operational level of 300.0 mg/m~3(half of the occupational exposure limit in China). Under this premise, the non-carcinogenic risk assessment results showed that the non-carcinogenic risk caused by inhalation of DCM was unacceptable in workers of these eight job posts. The results of carcinogenic risk assessment showed that the carcinogenic risk caused by inhalation of DCM was acceptable for all the workers in these eight job posts. CONCLUSION: Low-level DCM exposure can cause unacceptable occupational health risks to workers. Quantitative risk assessment can be applied to assess exposure to low-level chemicals.

Genetic analysis of Gitelman syndrome in a patient with recurrent spontaneous abortion / 中华内分泌代谢杂志

Sanger sequencing was applied to analyze the SLC12A3 gene of a patient with suspected Gitelman syndrome(GS) and recurrent spontaneous abortions, as well as for her parents. The results showed that a compound heterozygous mutation(c.1077C>G, c.2890C>T) was found in the proband, which led to the change of amino acid sequence(p.N359K, p.R964W). Among the family members, her mother was a single heterozygotes mutation carrier of c. 1077C>G(p.N359K) and her father had c. 2890C>T(p.R964W) heterozygotes.These results suggest that the GS may cause adverse pregnancy outcomes due to imbalance of internal environment, complex hormonal changes, and electrolyte abnormalities. The pregnancy management should be strengthened.

A study of the home care model based on the Omaha system for elderly maintenance hemodialysis patients / 中华老年医学杂志

Objective:To analyze the application effect of the home care model based on the Omaha system for elderly maintenance hemodialysis patients.Methods:A total of 73 elderly patients undergoing maintenance hemodialysis in the First People's Hospital of Longquanyi District, Chengdu city from December 2018 to December 2019 were enrolled.According to the randomization and double-blind principle, they were divided into the control group receiving the clinical routine care mode(n=32)and the intervention group undergoing the home care mode based on Omaha system(n=41). The Quality of Life Score, care satisfaction and awareness rate of health knowledge of patients were compared between the two groups before and after the care intervention.Results:Compared with before intervention, the quality of life scores was increased after caring in both two groups.And the scores in all dimensions were better in the intervention group than in the control group( t=3.173, 3.833, 3.514 and 4.593, P=0.001, 0.000, 0.000 and 0.000). The awareness rates of nutrition knowledge, water-intaking knowledge, iron supplementation knowledge, potassium and phosphorus limitation and dialysis mode were better in the intervention group than in the control group( χ2=7.592, 5.423, 8.494, 6.161 and 6.962, P=0.011, 0.011, 0.000, 0.010 and 0.011). The total satisfaction rate was 97.6%(40/41)in the intervention group, which was superior to that in the control group(75.0% or 24/32)( χ2 =8.460, P=0.000). Conclusions:The extended home care model based on the Omaha system can effectively improve patients' awareness of health knowledge, improve patients' quality of life and improve the satisfaction with care in elderly maintenance hemodialysis patients with a low education level, and it is worthy of clinical promotion.

Antibacterial activity and mechanism of moxifloxacin nanoparticles against drug-resistant Pseudomonas aeruginosa / 药学学报

We prepared moxifloxacin (MXF) loaded nanoparticles by nano-precipitation/self-assembly method, then compared the antibacterial activity of MXF and MXF loaded nanoparticles, and investigated the antibacterial mechanism of MXF loaded nanoparticles against Pseudomonas aeruginosa in vitro. The physicochemical properties such as particle size and zeta potential were investigated by laser particle size analyzer. The in vitro release characteristics were investigated by high performance liquid chromatography (HPLC). The effect of nanoparticles on HBE cells viability was investigated by CCK-8 assay. In addition, the in vitro antibacterial activity was investigated by minimum inhibitory concentration (MIC) assay, biofilm formation assays and transmission electron microscope (TEM) observation, then the antibacterial mechanism was initially explored. The particle size measurement showed that the nanoparticles had a size of 332.5 ± 2.7 nm, a polymer dispersion index (PDI) of 0.125 ± 0.053, a zeta potential of -24.3 ± 1.7 mV, and a uniform particle size distribution, drug loading content was (6.02 ± 1.27) %, encapsulation efficiency was (16.69 ± 1.17) %. The TEM results show that the nanoparticles have a spheroidal structure, and the particle size and distribution are consistent with the particle size measurement results. The nanoparticles can be effectively and rapidly released in phosphate buffer saline (PBS), releasing about 70% in 24 h, and releasing 87% in 72 h, and almost completely releasing the MXF at 120 h. At the same time, compared with moxifloxacin free drug, its MIC value is 8 μg·mL-1, which is 1/2 of MXF solution, and can significantly inhibit the formation of bacterial biofilms. It has well antibacterial activity in vitro and can be targeted to the surface of bacteria to exert its efficacy and improve the antibacterial effect. The moxifloxacin nanoparticles prepared in this study has a uniform particle size distribution, well drug release performance and antibacterial effect, and provides new ideas and strategies for the treatment of bacterial lung infection and the development of new antibacterial nanoformulations.

Analysis of CYP17A1 gene variants in 5 patients with 17-hydroxylase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To identify pathogenic variants in 5 sporadic patients and two Chinese pedigrees affected with 17-hydroxylase deficiency (17-OHD).@*METHODS@#Peripheral blood samples were collected with informed consent. Variants of CYP17A1 gene were screened by PCR and Sanger sequencing. Suspected mutations were validated in other members of the pedigrees.@*RESULTS@#Gene sequencing has identified a homozygous c.985_987delTACinsAA (Y329Kfs) mutation in exon 6 of the CYP17A1 gene in 4 patients and the sister of case 3. Case 1 was found to harbor compound heterozygous mutations c.1459_1467del9 (p.D487_F489del) and c.1244-3C>A. The parents and brother of cases 2 and 5 were heterozygous carriers of a c.985_987delTACinsAA(Y329Kfs) mutation.@*CONCLUSION@#Mutations of the CYP17A1 gene probably underlie the pathogenesis of 17-OHD, for which c.985_987delTACinsAA(Y329Kfs) is the most common. The c.1244-3C>A is a novel mutation. Above results have facilitated genetic counseling for the affected families.

Professor 's academic thoughts and acupoint selection experience for hot flashes / 中国针灸

Professor is a well-known national veteran doctor with over 70 years of clinical experience. He has unique academic thoughts and clinical experience for common diseases and some difficult and complicated diseases. This paper mainly introduces professor 's syndrome-differentiation thought and experience of acupoint selection for hot flashes. It is emphasized that common hot flashes, such as hot flashes and night sweats, are different between and . While regulating and , more attention should be paid to - harmony, which is not only suitable for women's perimenopausal syndrome, but also for a series of clinical diseases caused by refractory drugs such as endocrine therapy after breast cancer surgery. At the same time of acupoint selection based on syndrome differentiation, a more rational prescriptions should be made according to the duration of the disease and the experience acupoints to improve the clinical efficacy.

Effect of nitrogen,phosphorus and potassium formula fertilizer on growth and chemical composition content of Inula japonica / 中国中药杂志

Inula japonica was used as the research object, "3414" fertilization experiment were conducted to study the effects of nitrogen,phosphorus and potassium formula fertilizer on the growth and chemical composition content of I. japonica. The characteristics of fertilizer requirement were preliminarily revealed and the study provided fertilization guidance for artificial cultivation of I. japonica. The results showed that different nitrogen,phosphorus and potassium formula fertilizers had significant effects on plant morphology,physiological and biochemical indexes,dry matter accumulation and chemical composition content. The growth indexes and chemical components of I. japonica showed an upward trend with the increase of fertilization amount,especially the nitrogen fertilizer was the most significant. The indicators were analyzed by membership function. After comprehensive evaluation,the optimal nitrogen,phosphorus and potassium formula fertilization level was N3 P2 K2,namely high level nitrogen fertilizer,medium level phosphorus fertilizer and potassium fertilizer. I. japonica is a high fertilizer demand plant,and the rational fertilization scheme is " applying nitrogen fertilizer again and applying phosphorus and potassium fertilizer properly".

Analysis of CYP17A1 gene variants in 5 patients with 17-hydroxylase deficiency / 中华医学遗传学杂志

Objective@#To identify pathogenic variants in 5 sporadic patients and two Chinese pedigrees affected with 17-hydroxylase deficiency (17-OHD).@*Methods@#Peripheral blood samples were collected with informed consent. Variants of CYP17A1 gene were screened by PCR and Sanger sequencing. Suspected mutations were validated in other members of the pedigrees.@*Results@#Gene sequencing has identified a homozygous c. 985_987delTACinsAA (Y329Kfs) mutation in exon 6 of the CYP17A1 gene in 4 patients and the sister of case 3. Case 1 was found to harbor compound heterozygous mutations c. 1459_1467del9 (p.D487_F489del) and c. 1244-3C>A. The parents and brother of cases 2 and 5 were heterozygous carriers of a c. 985_987delTACinsAA(Y329Kfs) mutation.@*Conclusion@#Mutations of the CYP17A1 gene probably underlie the pathogenesis of 17-OHD, for which c. 985_987delTACinsAA(Y329Kfs) is the most common. The c. 1244-3C>A is a novel mutation. Above results have facilitated genetic counseling for the affected families.

Analysis of clinical phenotypes and CYP21A2 gene variants in 18 patients with 21-hydroxylase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore the genotype-phenotype correlation among 18 patients with 21-hydroxylase deficiency (21-OHD).@*METHODS@#PCR-Sanger sequencing was used to analyze the 10 exons and flanking regions of the CYP21A2 gene among the 18 patients and 20 healthy controls.@*RESULTS@#Seventeen patients had variants of the CYP21A2 gene. Eight patients (44.4%, 8/18) carried homozygous variants including p.Ile 173Asn (62.5%, 5/8), p.Pro31Leu (25.0%, 2/8), and IVS2-13A/C>G (12.5%, 1/8), respectively. Six patients (33.3%, 6/18) carried compound heterozygous variant, among which IVS2-13 A>G+p.Ile 173Asn were most common (50.0%). 94.4% (34/36) of the variant were pathogenic, with the most common variants being p.Ile173Asn (41.7%), IVS2-13A/C>G (19.4%), and p.Ile173Asn (7.5%). No variant was identified among the 20 healthy controls.@*CONCLUSION@#The majority of 21-OHD patients carried CYP21A2 gene variants in homozygous or compound heterozygous forms, among which the p.Ile173Asn was the most common one. There is a strong correlation between the genotypes and clinical phenotypes.

Thulium laser vaporization versus transurethral resection of the prostate and risk factors for postoperative urethral stricture / 中华男科学杂志

Objective@#To compare thulium laser vaporization of the prostate (TLVP) and transurethral resection of the prostate (TURP) in the treatment of benign prostate hyperplasia (BPH) analyze the risk factors for postoperative urethral stricture.@*METHODS@#From June 2015 to June 2016, 210 BPH patients in our hospital underwent TURP (n = 126) or TLVP (n = 84). We followed up the patients for 6 months, compared the effects of the two surgical strategies and analyzed the risk factors for postoperative urethral stricture by multivariate logistic regression analysis.@*RESULTS@#Compared with TURP, TLVP achieved significantly shorter time of operation (［78.6 ± 27.5］ vs ［53.2 ± 21.6］ min, P <0.01), postoperative bladder irrigation (［31.5 ± 2.9］ vs ［26.1 ± 3.7］ h, P <0.01), urethral catheterization (［5.3 ± 1.7］ vs ［3.7 ± 1.5］ d, P <0.01) and postoperative hospitalization (［7.9 ± 2.1］ vs ［5.5 ± 1.4］ d, P <0.01) as well as lower urinary leukocyte count at 6 months after surgery (［32.1 ± 12.6］ vs ［24.9 ± 11.7］ /μl, P <0.01) and incidence rate of postoperative complications (11.9% ［15/126］ vs 3.6% ［3/84］, P <0.05), particularly that of urethral stricture (7.9% ［10/126］ vs 1.2% ［1/84］, P <0.05). Logistic regression analysis showed that the preoperative urinary leukocyte count, postoperative urethral catheterization time, and surgical method were independent risk factors for postoperative urethral stricture.@*CONCLUSIONS@#TLVP, in comparison with TURP, has the advantages of definite effect, fast recovery, high safety and low incidence of postoperative urethral stricture. The main risk factors for postoperative urethral stricture include preoperative urinary tract infection, postoperative urethral catheterization time and surgical method.

The correlation study of profession practice environment and job burnout in head nurses / 中国实用护理杂志

Objective To explore the status quo and the correlation of professional practice environment and job burnout in head nurses. Methods Totally 646 head nurses from city state hospitals of Hunan Province was selected by cluster sampling method. Participants were investigated by using the Chinese Version of Profession Practice Environment Scale for Head Nurses and Maslach Burnout Inventory. Results The professional environment score was 215.95±22.81, which was in the moderate level. The score of emotional exhaustion (EE) in head nurses was 24.56 ± 10.64, depersonalization (DP) was 8.92 ± 4.17 and personal accomplishment (PA) was 35.55±13.08, all stating moderate burnout. Meanwhile, the scores of EE and DP were negatively correlated with professional practice environment (r=-0.350--0.161, P≤0.01), while the PA was positively correlated with professional practice environment (r=0.078- 0.271, P≤0.01). Conclusions Professional practice environment in head nurses is correlated with job burnout. Hospital leaders should pay more attention to head nurses′professional practice environment to decrease job burnout in head nurses.

Influencing factors of osteoporosis and fractures in patients with type 2 diabetes mellitus / 中华老年医学杂志

Type 2 diabetes mellitus is a kind of chronic metabolic disease,accompanied by multiple organ damages and involving the skeletal system as well.Osteoporosis is the most likely bone lesions suffered by patients with type 2 diabetes.The study found that,type 2 diabetic patients,compared with the normal people,will suffer from fracture at high risk,due to the decreased of bone quality and the increased risk of falling.The decrease of bone quality are the result of the deterioration of bone architecture and the loss of bone mass.The abnormal gait as well as the impairment of cognitive and the muscle weakness of type 2 diabetes,especially for elderly patients,will reduce their balance ability and increase their risk of falling,lead to an increased prevalence of fractures.