Diagnostic value of whole exome sequencing for patients with intellectual disability or global developmental delay / 中华医学遗传学杂志

OBJECTIVE@#To assess the diagnostic value of whole exome sequencing (WES) for patients with intellectual disability (ID) or global developmental delay (GDD).@*METHODS@#134 individuals with ID or GDD who presented at Chenzhou First People's Hospital between May 2018 and December 2021 were selected as the study subjects. WES was carried out on peripheral blood samples of the patients and their parents, and candidate variants were verified by Sanger sequencing, copy number variation sequencing (CNV-seq) and co-segregation analysis. The pathogenicity of the variants was predicted based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#A total of 46 pathogenic single nucleotide variants (SNVs) and small insertion/deletion (InDel) variants, 11 pathogenic genomic copy number variants (CNVs), and 1 uniparental diploidy (UPD) were detected, which yielded an overall detection rate of 43.28% (58/134). The 46 pathogenic SNV/InDel have involved 62 mutation sites in 40 genes, among which MECP2 was the most frequent (n = 4). The 11 pathogenic CNVs have included 10 deletions and 1 duplication, which have ranged from 0.76 to 15.02 Mb. A loss of heterozygosity (LOH) region of approximately 15.62 Mb was detected in 15q11.2q12 region in a patient, which was validated as paternal UPD based on the result of trio-WES. The patient was ultimately diagnosed as Angelman syndrome.@*CONCLUSION@#WES can detect not only SNV/InDel, but also CNV and LOH. By integrating family data, WES can accurately determine the origin of the variants and provide a useful tool for uncovering the genetic etiology of patients with ID or GDD.

Evaluation of microvascular flow imaging combined with high-frequency ultrasonography in children with haemophilic arthropathy A / 中华实用儿科临床杂志

Objective:To explore the application of microvascular flow imaging (MVFI) combined with high-frequency ultrasonography in children with haemophilic arthropathy A (HAA).Methods:Retrospective study.A total of 82 children diagnosed with HAA in the First Affiliated Hospital of Zhengzhou University from October 2018 to October 2020 were recruited.The elbow, knee and ankle joints of each child were examined by high-frequency ultrasonography.The numbers of thickened synovial joints were recorded.Blood flow signals of the thickening of synovial joints was checked by the MVFI and power Doppler ultrasound (PDUS), respectively.Color flow signals were graded by the semi-quantitative scoring systems.The chi- square test and independent multi-group ordinal multi-category rank-sum test were used to compare the differences of MVFI and PDUS in the display of thickened synovial blood flow. Results:A total of 254 joints were involved in 82 children with HAA, including synovial hypertrophy in 188 joints, hydrops articuli in 146 joints, fibrotic septa in 66 joints, cartilage damage in 63 joints, haemosider indeposition in 45 joints, bone erosion in 25 joints, osteophytes in 15 joints and bone remodeling in 8 joints.Grade Ⅱ synovial thickened joints were the most common.The proportion of blood flow signals detected by PDUS in thickened synovial membranes was significantly higher than that detected MVFI (52.66% vs.70.21%, χ2=12.225, P<0.05). Numbers of grade 0 and Ⅰ joints with thickened synovial membranes detected by MVFI were less than those of PDUS, while the opposite result was obtained in detecting grade Ⅱ and Ⅲ joints ( H=21.158, P<0.05). Compared with PDUS, MVFI more sensitively visualized the blood flow of the thickened synovial membrane. Conclusions:MVFI can more prominently detect the thickened synovial blood flow in children with HAA.A combined application of MVFI and high-frequency ultrasonography contributes to the evaluation of children with HAA.

Review of international experience about the adjustment procedure of essential medicine list / 中国药房

In order to further consolidate the national essential medicine system and establish and improve the selection and adjustment mechanism of the national essential medicine list ，the Department of Drug Policy and Essential Medicine of the National Health Commission of the People ’s Republic of China recently has issued the Measures for the Administration of the National Essential Medicine List （Revised Draft ）. Under the background that China is in a critical period of improving the management procedures for the adjustment of the essential medicines list ，how to better design the adjustment procedure ，clarify the operation process and material requirements of each link ，ensure social participation and improve work transparency are important problems to be solved. By consulting the official websites of World Health Organization （WHO）and some typical countries with essential medicine system as well as related foreign literature ，the advanced practices of WHO and some typical countries in the adjustment procedures of the essential medicine list were summarized from 6 stages，such as start-up stage ，the material collection and summary stage ，the evaluation stage ，result publicity stage ，relief stage and application and promotion stage. It is suggested that China can learn from the relevant successful international experience ，scientifically set the adjustment cycle ，establish a normalized feedback mechanism with multi-agent participation ，design a standardized material collection process and a scientific and efficient evaluation process ，and improve the transparency and social identity of the publicity of the selection results of essential medicines ， so as to build a more scientific and perfect adjustment procedure of essential medicine list.

Antimicrobial resistance and molecular epidemiology of foodborne Yersinia enterocolitica in Pudong New District, Shanghai / 中华流行病学杂志

Objective@#To investigate the antimicrobial resistance and molecular epidemiology of foodborne Yersinia (Y.) enterocolitica in Pudong New District of Shanghai.@*Methods@#Four kinds of raw food samples were collected in retail circulation sites in Pudong from 2012 to 2016. Cold enrichment method was used to isolate Y. enterocolitica and further detection of biotype, serotype, virulent genes, antimicrobial susceptibility of the isolates and pulsed field gel electrophoresis (PFGE) were conducted.@*Results@#A total of 3 900 raw food samples were collected during this period, including poultry product (n=590), livestock product (n=1 074), aquatic product (n=1 488), vegetable (n=748), in which 111 (2.8%) were contaminated by Y. enterocolitica. The detection rates of Y. enterocolitica in poultry product samples (5.3%, 31/590) and livestock product samples (4.5%, 48/1 074) were higher than those in aquatic product samples (1.6%, 24/1 488) and vegetable samples (1.1%, 8/748). The predominant biotype was 1A (95.5%) and predominant serotype was O∶8 (42.3%). All the strains lacked ail, ystA, yadA and virF genes, which encoded pathogenic Y. enterocolitica. Seventy six (68.5%) strains harbored ystB gene, in which 35 (31.5%) belonged to 1A/O∶8/ystB pattern. Most strains were resistant to ampicillin (74.8%) and amoxicillin/clavulanic acid (70.3%), and non-sensitive rate to Cefoxitin was over 50.0%. No third generation cephalosporin or fluoroquinolone resistant strains were detected, but 38.7% (43/111) strains were multidrug resistant (MDR). Serotype O∶8 and O∶5 strains had 44 and 18 PFGE patterns, respectively.@*Conclusions@#The main foodborne exposure sources of Y. enterocolitica in raw food were poultry and livestock products in Pudong New District. 1A/O∶8/ystB was the predominant pattern with potential pathogenicity despite lacks of typical pathogenic virulent genes. The antimicrobial resistant rates of Y. enterocolitica were at a low level, but MDR strains still existed. Molecular types of the isolates showed highly genetic diversity.

Comparison of disinfection effects of three disinfectants on gastroscope:a meta analysis / 中华消化内镜杂志

Objective To evaluate the disinfect effects of glutaraldehyde, ortho-phthalaldehyde ( OPA ) and peracetic acid on gastroscopy disinfection. Methods Relevant literature from PubMed, Cochrane Library, web of science, Embase, CNKI, CBM, VIP were retrieved to collect the randomized controlled trials on disinfection by glutaraldehyde, OPA and peracetic acid on gastroscope. Literature was selected according to the inclusion and exclusion criteria. The RevMan 5. 3. 4. 0 statistic software was used to extract data and a meta-analysis was performed. Results A total of 18 RCT were included. There were significant differences in the disinfect effects between the OPA group and the glutaraldehyde group ( OR=2. 02, 95％CI:1. 88-1. 27, P<0. 00001), and between the peracetic acid group and the glutaraldehyde group ( OR = 2. 79, 95％CI:1. 52-5. 11, P = 0. 0009 ) . There were no significant differences in the disinfection effect between the OPA group and peracetic acid group ( OR=1. 30,95％CI:0. 62-2. 73, P=0. 49) . Conclusion The disinfect effects of OPA and peracetic acid are similar, which are superior to glutaraldehyde. Compared with OPA and glutaraldehyde, peracetic acid is a better choice considering its good disinfect effect and low cost.

Qualitative research of the psychological experience of the main caregivers of hepatocellular carcinoma with hepatitis B virus / 中国实用护理杂志

Objective@#To explore the psychological experience of the caregivers of Hepatocellular Carcinoma with Hepatitis B virus.@*Methods@#Semi-structured Interviews were performed in a total of 12 main caregivers of Hepatocellular Carcinoma with Hepatitis B in the Chinese Academy of Medical Sciences from October 2016 to March 2017, and the original data was analyzed according to the Colaizzi 7-step method.@*Results@#A total of five topics were extracted, including Awareness of relief stress when the diagnosis was informed, Indebtedness and self-blame, fear and sadness of possible loss of loved ones, stressful anxiety (stress of economy, loss of function, worrying about being infected), and joint stigma.@*Conclusions@#Many psychological experiences of main caregivers of patients with hepatocellular carcinoma combined with hepatitis B coexist in the course of care. Exploring and providing effective care support based on the psychological experience and needs of caregivers is one way to improve physical and mental health and the quality of care for patients.

Comparison of the effect of different surgical procedures on ovarian reserve and analgesic effects of drug use ;in patients with uterine fibroids / 中国基层医药

Objective To observe the impact of different surgical procedures on ovarian reserve and analge-sic effects of drug use in patients with uterine fibroids.Methods 100 patients with uterine fibroids were randomly divided into two groups.50 patients in control group were implemented traditional open surgery.50 cases in the obser-vation group received laparoscopic myomectomy.The ovarian reserve changes were compared before and after surgery, pain medication use and changes in the degree of pain conditions.Results The levels of follicle stimulating hormone and luteinizing in the control group one,three months after operation were significantly higher than before surgery and the observation group,the level of estrogen was significantly lower than before surgery and observation group,the differences were statistically significant(t=10.23,14.58,9.78,11.76,9.83,9.92,10.07,11.23,all P<0.05).The postoperative first pain time of the observation group was significantly longer than the control group,the difference was statistically significant[(513.74 ±284.52)min vs.(61.38 ±37.21)min,t=92.34,P<0.05].The postoperative analgesic usage of the observation group was significantly lower than the control group,the difference was statistically significant(14.0% vs.58.0%,χ2 =7.83,P<0.05).The pain scores 3d,4d,5d,6d and 7d after operation of the observation group were significantly lower than the control group(t=2.11,2.30,2.58,7.03,6.46,all P<0.05). Conclusion The patients with uterine fibroids laparoscopic myomectomy for treatment will not cause great impact on the patients'ovarian reserve,and can effectively reduce the use of analgesics,and it is worthy of further promotion.

The relationship between volumetric capnography and the severity of chronic obstructive pulmonary disease / 中华老年医学杂志

Objective To explore the correlation between volumetric capnography(VCap)and traditional pulmonary function in chronic obstructive pulmonary disease(COPD),so as to assess whether VCap can be used as alternative indicators for the evaluation of COPD severity when some of the elderly COPD patients do not accomplish the traditional pulmonary function tests.Methods 960 patients admitted to Fujian Geriatric Hospital from June 2008 to June 2015 and undergoing pulmonary function tests were included in the study.They were divided into 2 groups of the COPD group(640 cases)and the control group(320 cases).The pulmonary function of COPD group was divided into 4 subgroups(Ⅰ~Ⅳ).All persons received tests of traditional pulmonary function and VCap.The correlations between VCap and traditional pulmonary function indexes and between VCap and COPD severity were observed.Results The differences in Vm25-50/VT,Vm50-75/VT,dC/dV3,SR23 of VCap between the 4 subgroups(COPDⅠ~COPDⅣ)and control group were statistically significant(all P0.05).The difference in CO2 max between the COPD Ⅲ group(severe or more severe group)and control group was statistically significant(t=6.91 and 4.65,all P0.555,P<0.05).The specificity of Vm25-50/VT of VCap for the diagnosis of COPD was best,but its sensitivity was poor than other indexes of VCap.The indexes with both high sensitivity and high specificity were Vm50-75/VT and dC/dV3.Conclusions When the patients with COPD manifest the mild airflow limited,Vm25-50/VT,Vm50-75/VT,dC/dV3 and SR23 of VCap are gradually increased with abnormal VCap figures when the illness progressed.The CO2max of VCap might be one of the indexes for assessing the severity of severe or more severe COPD.

Analysis of real-time review and intervention on irrational outpatient infusion prescriptions / 中国基层医药

Objective To analyze type of irrational outpatient infusion prescriptions returned by clinical pharmacists'pre -prescription review and intervention in our hospital.Methods Outpatient infusion prescriptions reviewed by clinical pharmacists in 2014 were statistically analyzed in terms of type,constitution and rate of qualified prescriptions.Results Type of unstandard writing or input errors prescriptions accounted for 35.19%,which was the great majority of the irrational outpatient infusion prescriptions.The rate of qualified prescriptions was 99.15%,which was higher than 91.53% in 2011 when pre -prescription review and intervention had not implemented.Conclusion Pre -prescription review and intervention could improve the quality of outpatient infusion prescriptions.Finally,safety and effectiveness of outpatient infusion could be guaranteed.

Analysis of cognition and behavior in postpartum rehabilitation of pelvic floor / 中华全科医师杂志

From January 2014 to June 2014,a total of 178 primiparas and biparas scheduled for a 42-day postpartum follow-up visit at our hospital were examined.And their pelvic floor dysfunctions were evaluated according to the surveys of incontinence impact questionnaire,short form (IIQ-7),pelvic floor impact questionnaire-7 (PFIQ-7) and pelvic organ prolapse/urinary incontinence sexual questionnaire (PlSQ.12).And 130 primiparas and 48 biparas lacked an understanding of performance,prevention and treatment for postpartum pelvic floor dysfunction.And two groups showed no significant difference.The selfdiscovery and detection rates of decreased pelvic myodynamic were 9.2％ and 14.6％ in primiparas versus 10.4％ and 16.7％ in biparas.The self-discovery and detection rates of pelvic organ prolapse were 0.8％ and 2.3％ in primiparas versus 0.0％ and 8.3％ in biparas.And the difference was statistically significant.Most related knowledge came from parents and colleagues in 53.1％ (95/178) and doctors and nurses in 15.5％ (27/178).Only about 44.4％ (12/27) women with prominent symptoms of pelvic floor dysfunction requested treatments.Therefore the related knowledge of postpartum pelvic floor dysfunction should be strengthened.

Hypofractionated radiotherapy for non-small-cell lung cancer / 国际肿瘤学杂志

Hypofractionated three-dimensional confornul radiotherapy (3DCRT) makes it possible to further improve loeal control,overall survival and the quality of life for the patients with non-small-cell lung cancer (NSCLC).But the dose-fractionation and total dose are not yet clear,which need further study.Hypofractionated stereotactic body radiotherapy (SBRT) for early-stage NSCLC patients is well tolerated and results in excellent local control and overall survival.SBRT is expected to become a new standard treatment in patients with early stage NSCLC.

Application of matrix assisted laser desorption/ionization time-of-flight mass spectrometry on high-risk human papillomvirus detection in clinic / 中华检验医学杂志

clinical applications, especially suitable for large-scale cervical screening and epidemiology investigation.