Clinical and genetic analysis of a child with early-onset severe obesity / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotype and genetic etiology of a child with early-onset severe obesity.@*METHODS@#A child who presented at the Department of Endocrinology, Hangzhou Children's Hospital on August 5, 2020 was selected as the study subject. Clinical data of the child were reviewed. Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing (WES) was carried out on the child. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#This child was a 2-year-and-9-month girl featuring severe obesity with hyperpigmentation on the neck and armpit skin. WES revealed that she has harbored compound heterozygous variants of the MC4R gene, namely c.831T>A (p.Cys277*) and c.184A>G (p.Asn62Asp). Sanger sequencing confirmed that they were respectively inherited from her father and mother. The c.831T>A (p.Cys277*) has been recorded by the ClinVar database. Its carrier frequency among normal East Asians was 0.000 4 according to the 1000 Genomes, ExAC, and gnomAD databases. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was rated as pathogenic. The c.184A>G (p.Asn62Asp) has not been recorded in the ClinVar, 1000 Genomes, ExAC and gnomAD databases. Prediction using IFT and PolyPhen-2 online software suggested it to be deleterious. Based on the guidelines from the ACMG, it was determined as likely pathogenic.@*CONCLUSION@#The c.831T>A (p.Cys277*) and c.184A>G (p.Asn62Asp) compound heterozygous variants of the MC4R gene probably underlay the early-onset severe obesity in this child. Above finding has further expanded the spectrum of MC4R gene variants and provided a reference for the diagnosis and genetic counseling for this family.

Dexmedetomidine reduces dextran sulfate sodium (DSS)-induced NCM460 cell inflammation and barrier damage by inhibiting RhoA/ROCK signaling pathway

Objective This study investigated the role of dexmedetomidine (DEX) in dextran sulfate sodium (DSS)-induced NCM460 cells.Material and Methods The viability and apoptosis of NCM460 cells treated with DEX with or without DSS were detected by CCK-8 and terminal deoxynucleotidyl transferase (TdT) dUTP nick-end labeling (TUNEL) assay. The level of inflammatory factors and expression of inflammation-related proteins, tight junction proteins and Ras homolog gene family, member A/Rho-associated coiled-coil containing protein kinase (RhoA/ROCK) signaling-related proteins in NCM460 cells treated with DEX and/or U46619 (RhoA/ROCK agonist) and/or DSS were detected by the respective enzyme-linked immunosorbent assay (ELISA) kits and Western blot analysis. The permeability of NCM460 monolayers was examined with transepithelial electrical resistance (TEER) assay.Results DEX had no effect on NCM460 cell viability. However, DEX improved the viability and barrier damage and suppressed the apoptosis and inflammation of DSS-induced NCM460 cells. Correspondingly, the expression of inflammation-related proteins was reduced and the expression of tight junction proteins was increased in DSS-induced NCM460 cells after treatment with DEX. In addition, RhoA/ROCK signaling was activated in NCM460 cells induced by DSS, which was suppressed by DEX. The protective effects of DEX on DSS-indued NCM460 cells were reversed by U46619 (AU)

Analysis on condom use negotiation with sex partners and condom use in female sex workers / 中华流行病学杂志

Objective@#To know condom use negotiation with clients and regular sex partners and condom use in female sex workers (FSWs), and provide reference for the development of comprehensive HIV/AIDS intervention for FSWs.@*Methods@#The cross sectional survey was conducted in Jianshui county and Mengzi county in Honghe Hani and Yi autonomous prefecture. A total of 476 FSWs aged 16 years and above were recruited from entertainment venues, and the information about their demographic characteristics, condom use negotiation and condom use were collected by using questionnaires. Logistic regression model was used to analyze related factors of condom use after negotiation between FSWs and clients unwilling use condom.@*Results@#A total of 852 FSWs who aged (24.29±8.44) years old participated in the survey. In past month, 499 FSWs had negotiation for condom use with unwilling clients (58.6%, 499/852), after negotiation, 441 FSWs (88.4%, 441/499) had consistent condom use in each sex with the clients. In the past one month, 99 FSWs had negotiation for unwilling use condom with regular sex partners (14.4%, 99/687), after negotiation, 54 FSWs (54.5%, 54/99) had consistent condom use in each sex with regular sex partners. Among the FSWs, 266 (53.3%, 266/499) reported that they could say "It is a mandatory requirement" to persuade clients who were unwilling to use condom. 97(19.4%, 97/499) reported that they could say "There is risk for infection" to persuade clients who were unwilling to use condoms. 115 (23.1%,115/499) reported that they could say "It is a mandatory requirement" and "there is risk for infection" to persuade their unwilling clients to use condoms. 21 (4.2%, 21/499) reported that they used other strategies. 22 (4.4%, 22/499) felt that it was difficult to persuade clients to use condoms. Multivariate logistic regression analysis showed that compared with FSWs who felt difficult in persuading clients to use condoms, FSWs who felt moderate difficulty were more likely to have consistent condom use after negotiation (OR=4.00, 95%CI: 1.55-10.32) and FSWs who felt easy in persuading clients to use condoms were also more likely to have consistent condom use (OR=30.17, 95%CI: 3.22-282.44). Compared with FSWs used other strategies to persuade their clients to use condoms, FSWs who said it was a mandatory requirement were more likely to have consistent condom use after negotiation (OR=4.44, 95%CI: 1.41-14.01) and FSWs who said it was a mandatory requirement and there was risk for infection were also more likely to have consistent condom use (OR=5.52, 95%CI: 1.55-19.73).@*Conclusions@#Negotiation for condom use increased the rate of condom use in FSWs in sex with clients who were unwilling to use condom. The negotiation strategy of "It is a mandatory requirement" would promote condom use in FSWs in sex with clients who were unwilling to use condom. Besides, the negotiation strategy of saying "there is risk for infection" had additional effects.

Optimization of Preparation Technology of Tetracaine Hydrochloride Ethosomes / 中国药房

OBJECTIVE： To establish a method for determining the content of tetracaine hydrochloride （TCH） ethosomes， and to optimize the preparation technology. METHODS： The content of TCH was determined by HPLC. TCH ethosomes were prepared with injection-ultrasonic method. Using drug-loading amount， egg lecithin concentration and ethanol volume fraction as factor， encapsulation efficiency as index， central composite design-response surface methodology was used to optimize the prescription based on the single factor test. The prepared ethosomes were characterized and the stability was evaluated. RESULTS： The linear range of TCH was 10-100 μg/mL （r＝0.999 5）； the limit of quantification was 0.045 μg/mL， and detection limit was 0.021 μg/mL. RSD of precision， stability and repeatability tests were less than 2％. The recoveries ranged 97.80％-103.20％ （RSD＝0.36％， n＝9）. The optimal preparation technology included that the adding amount of TCH control was 1 mg； the concentration of egg lecithin was 7 mg/mL， and ethanol volume fraction was 33％. Under this technology， the average encapsulation efficiency was 64.50％ （n＝3）， the relative error of which from the predicted value （64.92％） was 0.64％. TCH ethosome was a clear blue liquid with a blue opalescence. Its appearance was spherical， its shape was round， smooth， uniform in size； the average particle size was （80.33±2.24） nm， and the average Zeta potential was （－22.6±1.33） mV. TCH ethosome was stable during 10 days under 4 ℃， sealed and protected from light. CONCLUSIONS： The optimal preparation process is stable and feasible. Established method is simple and rapid.

Nursing care of one hemaphagocytic syndrome patient combined with skin lesions after haploidentical hematopoietic stem cell transplantation:a case study / 中华护理杂志

The nursing experience of one hemaphagocytic syndrome patient with skin damage complication who underwent haploidentical hematopoietic stem cell transplantation were summarized. The patients gradually appeared ulceration of elbow joint skin, perianal mucosa, and bilateral axillary skin during the phase of agranulocytopenia and immune inhibition after transplantation. The overall skin ulceration area was accounted for 13% of total body surface area. We chose different dressings, combination anti-infection with promoting wound healing for nursing and achieved great effect. The skin lesions gradually healed and the patient went to the general ward successfully.

Effect of prostaglandin tromethamine injection combined with oxytocin on postpartum hemorrhage of scarred uterus in late pregnancy / 中国生化药物杂志

Objective To investigate the effect of carboprost tromethamine combined with oxytocin on postpartum hemorrhage of scarred uterus in late pregnancy, and to provide theoretical basis for the application of carboprost tromethamine combined with oxytocin. Methods From May 2015 to May 2017, 52 pregnant woman with postpartum hemorrhage with scarred uterus in late pregnancy in the sixth hospital in Beijing were divided into the control group and the observation group. The control group was treated with oxytocin, and the observed value was treated with progesterone tromethamine injection and oxytocin. Postpartum hemorrhage, the incidence of postpartum hemorrhage in the two groups were compared. Results The intraoperative blood loss, postoperative 2 h and postoperative 24 h bleeding in the observation group were significantly lower than those in the control group, the difference was statistically significant (P<0.05). The incidence of postpartum hemorrhage in the observation group was 3.85％, significantly lower than 11.54％ in the control group, the difference was statistically significant (P<0.05). Conclusion carboprost tromethamine combined with oxytocin in the treatment of postpartum hemorrhage in the pregnant woman with scarred uterus in late pregnancy is effective and can reduce the rate of postpartum hemorrhage and the amount of bleeding, so it is worthy of popularization and application.

Nursing for Acute Epididymitis during Intermittent Catheterization / 中国康复理论与实践

Objective To summarize the nursing for acute epididymitis within intermittent catheterization. Methods From August, 2013 to February, 2016, twelve patients suffering acute epididymitis within intermittent catheterization after spinal cord injury were reviewed. Re-sults Epididymitis was cured in all the patients after retention catheterization, psychological nuring, diet and drinking guide, reasonable drug use, etc. Conclusion Acute epididymitis within intermittent catheterization can be controlled by appropriate medication and nursing.

Effects of Rehabilitation Nursing Intervention on Quality of Life of Burn Patients:A Meta Analysis / 中国康复理论与实践

Objective To investigate the effects of rehabilitation nursing on quality of life in patients after burn injuries. Methods The re-ports about rehabilitation nursing for burn patients from January, 2004 to June, 2015 were searched and extracted from the databases of Chi-na Biology Medicine, China National Knowledge Infrastructure, Wangfang Data and Chongqing VIP Database, and analyzed with Review Manager 5.3. Results 11 non-randomized control studies (MINROS score:13~19) were eligible for meta-analysis. There were significant differences in the general health (MD=7.78, 95%CI:6.79~8.77, P<0.001), social function (MD=10.26, 95%CI:5.91~14.60, P<0.001), men-tal function (MD=9.71, 95%CI:6.87~12.55, P<0.001) and physical function (MD=6.88, 95%CI:3.95~9.81, P<0.001) between experimental group and control group. Conclusion Rehabilitation nursing can improve the quality of life of burn patients.

Prevalence of high risk behaviors in HIV infected persons aged ≥50 years in selected counties of Yunnan province / 中华流行病学杂志

<p><b>OBJECTIVE</b>To understand the prevalence of high risk behaviors and influencing factors among HIV infected persons aged ≥50 years.</p><p><b>METHODS</b>Face to face questionnaire interview was conducted among the HIV infected persons selected in Jianshui, Gejiu and Mengzi counties in Yunnan province through random sampling in June 2015. The sample size was 450.</p><p><b>RESULTS</b>Among the HIV infected persons surveyed, 41.2% (122/296) had sexual behaviors with their spouses during past year, and the consistent condom use rate was 66.4% (81/122). Among the HIV infected males, 8.9% (28/313) had commercial sexual behaviors during past year, and the consistent condom use rate was 17.9% (5/28). Among the HIV infected females, 0.7% were still engaged in commercial sex service during past year. Among the 450 HIV infected persons, 32 (7.1%) reported having casual sex behaviors during past years, and the consistent condom use rate was 18.7% (6/32). The rate of commercial sexual behavior in urban residents (13.4%, 19/115) was higher than that in rural residents (4.5%, 9/198), the difference was statistically significant (χ(2)=11.715, P=0.001). The risk factors for commercial sex behaviors included lack of family and social support, aged 50-59 years, living in urban area, higher income and being male. The risk factors for using no condom included living in rural area, lower education level, lack of family and social support and higher income.</p><p><b>CONCLUSIONS</b>Risk sex behaviors are still prevalent in HIV infected people aged >50 years, which exacerbated HIV transmission. Further efforts should be focused on the education about AIDS prevention and control and promoting protected sexual behaviors. Additional effort should be done to improve the family and social support for HIV infected people aged >50 years. Moreover, comprehensive intervention for low-paid female sex workers also needs to be strengthened.</p>

Effect of Innovative Bladder Irrigation Method on Prevention of Urinary Tract Infection in Neurogenic Bladder Patients with Clean Intermittent Catheterization / 中国康复理论与实践

@#Objective To explore the clinical effect of innovative bladder irrigation on prevention of urinary tract infection in neurogenic bladder patients with clean intermittent catheterization after spinal cord injury (SCI). Methods 40 neurogenic bladder patients with clean intermittent catheterization after SCI were divided into observation group (n=20) and control group (n=20). The observation group received innovative bladder irrigation with normal saline 500 ml every other day, and the control group received normal bladder irrigation with normal saline 500 ml every day. Results 4 weeks and 6 weeks after treatment, the incidence of urinary tract infection was lower in the observation group than in the control group (P<0.05). Conclusion The innovative bladder irrigation method can decrease the rate of urinary tract infection in neurogenic bladder patients with clean intermittent catheterization after SCI.

Effect of Innovative Bladder Irrigation Method on Prevention of Urinary Tract Infection in Neurogenic Bladder Patients with Clean Intermittent Catheterization / 中国康复理论与实践

Objective To explore the clinical effect of innovative bladder irrigation on prevention of urinary tract infection in neurogenic bladder patients with clean intermittent catheterization after spinal cord injury (SCI). Methods 40 neurogenic bladder patients with clean in-termittent catheterization after SCI were divided into observation group (n=20) and control group (n=20). The observation group received in-novative bladder irrigation with normal saline 500 ml every other day, and the control group received normal bladder irrigation with normal saline 500 ml every day. Results 4 weeks and 6 weeks after treatment, the incidence of urinary tract infection was lower in the observation group than in the control group (P<0.05). Conclusion The innovative bladder irrigation method can decrease the rate of urinary tract infec-tion in neurogenic bladder patients with clean intermittent catheterization after SCI.

The diagnostic value of direct lymphangiography for the thoracic duct outlet obstruction / 中华放射学杂志

Objective To investigate the diagnostic values of direct lymphangiography for the thoracic duct outlet obstruction.Methods The image data of direct lymphangiography were retrospectively analyzed in 124 patients with lymphedema,Chylothorax,chylous ascites,chyluria and intestinal lymphangiectasis,and compared with the results of neck thoracic duct surgical exploration,2 radiologists reviewed DLG DSA images in a double blind manner.The number of neck stem,subclavian stem,bronchialmediastinal stem and TD terminal into blood obstruction on the operation side showed by DLG were assessed using Kappa analysis.Results Of 124 patients,80 patients had the left cervical lymphatic stem reflux on DLG,75 patients with the left subclavian lymphatic stem reflux,30 patients with the left bronchial-mediastinal lymphatie stem reflux,118 patients showed the thoracic duct outlet barrier into the blood.The consistency rate of DLG were 89.9％ (80/89),92.6％ (75/81),90.9％ (30/33) and 95.2％ (118/124) compared with the neck thoracic duct surgical exploration.Tow radiologists had a high degree of diagnostic consistency (K =0.82,P ＜ 0.05).In addition,114 patients (91.9％) had tortuous,dilated waist lymphatic stem,only 10 patients (8.1％) were normal.The cisterna chyli reflux were found in 92 patients (74.2％),intestinal stem reflux in 16 patients (12.9％),reflux to the kidney area in 11 patients (8.9％),to the pericardium reflux in 5 patients (4.0％),vaginal lymphatic leakage in 7 patients (5.6％),retroperitoneal lymph leakage in 2 patients (1.6％),pleural lymphatic leakage in 3 patients (2.4％),tracheal lymph leakage in 1 patient (0.8％).Conclusion Direct lymphangiography has a high consistency with the cervical thoracic duct surgical exploration in displaying thoracic duct outlet obstruction.

Effects of pioglitazone on the expression of adipose triglyceride lipase in obese rats / 中华内分泌代谢杂志

To detect the effects of pioglitazone on adipose triglyceride lipase (ATGL) in adipose,liver,and muscle of high-fat diet-induced obese rats.Insulin resistance aud decreased expression of adipose triglyceride lipase were found in the adipose,liver,and muscle tissues.Pioglitazone may improve insulin sensitivity and ameliorate ATGL expression in tissues of high-fat diet-induced obese rats.

Imaging diagnosis of the lymphangioleiomyomatosis / 中华放射学杂志

Objective Toinvestigatethevalueofimagingdiagnosisofthe lymphangioleiomyomatosis( LAM ).MethodsFifteen patients with LAM confirmed by pathological assessment were analyzed retrospectively for radiologic findings.They had chest radiograph, chest highresolution CT (HRCT),abdominal CT, direct lymphangiography(DLG), chest CT and abdominal CT after DLG.Results Chest radiograph findings included normal (1),increasing of lung markings (3),disseminated honeycomb or reticular pattern ( 11 ), pneumothorax ( 2 ), and pleural effusion ( 14 ). Chest conventional CT and HRCT showed typical imaging manifestation of PLAM in all cases, including sporadic or disseminated cysts in bilateral lungs. According to the grading standard of pulmonary disease made by Avila et at, there were 3 cases in grade Ⅰ , 5 cases in grade Ⅱ and 7 cases in grade Ⅲ . Fourteen of 15 patients with LAM had positive abdominal CT findings in retroperitoneum and pelvic cavity. Common abdominal CT findings included cystic lymphangioma in 9 of 14 patients, lymphangiomyoma in 13 and both coexisting in 7.One of the14patients alsohadhepaticlipomaandangiomyolipomas.Onepatienthadrenal angiomyolipomas; and one patient had hysteromyoma. All 15 cases underwent DLG, 1 cases had lymphatic obstruction in the lumbar 3 level, the remaining 14 cases had varying degrees of thoracic duct stenosis, or obstruction. Neck trunk, subclavian trunk and bronchial trunk showed lymphatic reflux. On post-DLG CT,thoracic duet outlet obstruction was not demonstrated in 3 cases, the remaining 12 cases showed thoracic outlet obstruction, consistent with the DLG findings.Conclusion HRCT is a useful diagnostic method showing characteristic findings of PLAM. MSCT can help to detect abdominal LAM. DLG and MSCT after DLG have value in displaying obstruction site of thoracic duct or lymphatic trunks and provide guidance for operative treatment.

Application of Clinical Pathway in Health Education for Spinal Cord Injured Patients in Rehabilitation Department / 中国康复理论与实践

@#ObjectiveTo discuss the application of clinical pathway in the health education for spinal cord injured patients in rehabilitation department. Methods56 patients with spinal cord injury were divided into 2 groups: treatment group and control group. Both groups were cared with holistic nursing. However, the health education to the treatment group was given by clinical pathway, while to the control group by traditional way. On the day of discharge, the health education standard and the satisfaction of patients were investigated. ResultsBoth the rates of standard in health education and satisfaction were more in treatment group than in control group. ConclusionApplication of clinical pathway can regulate the health educational behavior, improve the communication between nurses and patients, and the quality of nursing.

Clinical significance of serum interleukin-8 and myocardial enzyme levels in the diagnosis and treatment of children with bronchopneumonia / 中国医师进修杂志

Objective To investigate the association of serum interleukin-8 (IL-8) and myocardial enzyme levels in children with bronchopneumonia.Methods Serum IL-8 contents were measured by the radioimmunity method and serum myocardial enzyme contents were measured by the Olympus AU640 in 60 children with bronchopneumonia (mild 30 cases and severe 30 cases) as well as in 30 controls.Results Serum IL-8 contents were significantly higher in children with severe bronchopneumonia and mild bronchopneumonia than those in controls [( 2.54 ± 0.65),( 1.28 ± 0.53) μ g/L vs.(0.43 ± 0.08) μ g/L] (P ＜0.01),and serum myocardial enzyme contents (α-hydroxybutyrate dehydrogenase,MB isoenzyme of creatine kinase,creatine kinase,aspartate aminotransferase) were significantly higher in children with severe bronchopneumonia and mild bronchopneumonia than those in controls (P＜0.01).Conclusions IL-8 and myocardial enzyme may play a role in children with bronchopneumonia.Determination of serum IL-8 and myocardial enzyme levels might have important prognostic values in children with bronchopneumonia.

Effect of 7-day gonadotropin-releasing hormone agonist protocol on IGF-II and IGFBP-4 levels in the follicular fluid / 中南大学学报(医学版)

OBJECTIVE@#To explore the different effect of short 7-day gonadotropin releasing hormone agonist (GnRHa) protocol and GnRHa long protocol on the insulin-like growth factor II(IGF-II) and insulin-like growth factor binding protein-4 (IGFBP-4) levels in follicular fluid.@*METHODS@#Eighty-eight infertile patients due to tubal factors were included in this study. They were randomly divided into a short 7-day GnRHa protocol group and a GnRHa long protocol group (n = 44). Follicular fluid was obtained from dominant follicles during oocyte retrieval. Levels of IGF-II and IGFBP-4 in the follicular fluid were detected by radioimmunoassay and enzyme-linked immunosorbent assay respectively.@*RESULTS@#Duration of controlled ovarian stimulation was significantly shorter and the injected dosages of gonadotropin were significantly lower in the short 7-day protocol group. The differences in serum levels of estradiol and estradiol per mature follicle on the day of human chorionic gonadotropin injection between the two groups were not significant. The concentrations of IGF-II and IGFBP-4 in the follicular fluid of the short 7-day protocol group were significantly lower,while the difference of the ratio of IGF-II/IGFBP-4 between the two groups was not significant. Linear correlation analysis showed that IGF-II level in the follicular fluid was positively correlated to the total dose of gonadotropin.@*CONCLUSION@#The short 7-day and long GnRHa protocols may affect the concentrations of IGF-II and IGFBP-4 in the follicular fluid. However, changes of IGF-II and IGFBP-4 concentrations do not contribute to different clinical outcomes.

Quality Standard Study on Danqi Tablets / 浙江中医药大学学报

[Objective] To set up standard method of quality to Danqi Tablets.[Method] Take HPLC to make nature authentication,take reverse HPLC to test the content of salvianolc acid B in the preparation.[Result] The authentication is strong in attribute and has good repetition,the measurement has good linear relation,the recycle rate is 101.7%,RSD 1.77%.[Conclusion] The quality standard can effectively control the quality of Danqi Tablets.

Sclerosing Adenosis:Radiographic Diagnosis and Pathology / 实用放射学杂志

Objective To improve the knowledge of mammographic signs of sclerosing adenosis.Methods The X-ray and pathological features of sclerosing adenosis of 17 focuses in 15 cases proved by histology were reviewed in comparison with that of breast cancer.The study was put emphasis upon the difference between sclerosing adenosis and breast cancer on clinic and radiographs.Results On mammography,the lesions appeared as asymmetric and disseminated density in 5/17(29.4%),dense nodules in 10/17(58.8%),calcifications inside the lesions in 3 and focal architectural disorder combined with stellate constriction in 2/17(11.8%).Conclusion The sclerosing adenosis is easily confused with breast carcinoma on radiographic signs,the diagnosis would be combined with clinical history and palpation examination.

Relationship between hypokalemic paralysis and RBC Na~+/K~+ATPase / 中华神经科杂志

Objective To investigate the relationship between the activity of Na +/K +pump on RBC membrane and abnormal potassium transportation through cellular membrane in hypokalemic patients Methods Activity of RBC ATPase in 17 cases of hypokalemic paralysis patients and 16 cases of healthy controls was tested Results Activity of RBC ATPase was statistically higher in hypokalemic periodic paralysis (HOPP)group[( 25 6?3 5) ?mol?(10 7RBC) 1 ?h 1 ], and lower in nephridium oxidosis group [(1 9?0 8) ?mol?(10 7RBC) 1 ?h 1 ]than in control group[(6 2?0 9) ?mol?(10 7 RBC) 1 ?h 1 , P