Objective: To investigate the clinical phenotype and genetic characteristics of disorders of sex development (DSD) caused by Y chromosome copy number variant (CNV). Methods: A retrospective analysis was performed on 3 patients diagnosed with DSD caused by Y chromosome CNV admitted to the First Affiliated Hospital of Zhengzhou University from January, 2018 to September, 2022. Clinical data were collected. Clinical study and genetic test were performed by karyotyping, whole exome sequencing (WES), low coverage whole genome copy number variant sequencing (CNV-seq), fluorescence in situ hybridization (FISH) and gonadal biopsy. Results: The 3 children, aged 12, 9, 9 years, the social gender were all female, presented with short stature, gonadal dysplasia and normal female external genital. No other phenotypic abnormality was found except for case 1 with scoliosis. The karyotype of all cases were identified as 46, XY. No pathogenic vraiants were found by WES. CNV-seq determined that case 1 was 47, XYY,+Y(2.12) and case 2 was 46, XY,+Y(1.6). FISH concluded that the long arm of Y chromosome was broken and recombined near Yq11.2, and then produced a pseudodicentric chromosome idic(Y). The karyotype was reinterpreted as mos 47, X, idic(Y)(q11.23)×2(10)/46, X, idic(Y)(q11.23)(50) in case 1. The karyotype was redefined as 45, XO(6)/46, X, idic(Y)(q11.22)(23)/46, X, del(Y)(q11.22)(1) in case 2. 46, XY, -Y(mos) was found by CNV-seq in case 3, and the karyotype of 45, XO/46, XY was speculated. Conclusions: The clinical manifestations of children with DSD caused by Y chromosome CNV are short stature and gonadal dysgenesis. If there is an increase of Y chromosome CNV detected by CNV-seq, FISH is recommended to classify the structural variation of Y chromosome.
Humans ; Female ; DNA Copy Number Variations ; In Situ Hybridization, Fluorescence ; Retrospective Studies ; Chromosomes, Human, Y ; Turner Syndrome

Objective: To establish a sustainable updated literature data warehouse for global vaccine safety assessment, and provide data support for evidence-based vaccine safety assessment. Methods: Semi-automated construction and updating of a literature data warehouse were achieved through the continuous integration of standard operating steps of evidence-based reviews with artificial intelligence technologies. Following the standard procedure of a systematic literature review, the literatures about vaccine safety assessment published before November 29, 2020 were retrieved from 9 databases including OVID, Scopus, Web of Science, Cochrane Library, and ClinicalTrails.org in English and Wanfang, CNKI, VIP, and SinoMed in Chinese. Literatures were screened for two rounds in a semi-automatic manner (by artificial intelligence literature processing system and manual work) according to the inclusion/exclusion criteria. Furthermore, the literatures were classified according to the types of vaccines and adverse events. The updating strategy was established, and the literature data warehouse was updated regularly. Experts were organized to select specific vaccine safety topics and carry out special demonstration studies. Results: More than 0.41 million articles were retrieved. According to the inclusion/exclusion criteria, 23 304 articles were included after two rounds of screening. At present, we have selected and completed three prior topics as demonstration studies, including the systematic review of "DPT (diphtheria, pertussis and tetanus) vaccine and encephalopathy/encephalitis", and the classified management of literatures about allergic purpura and brachial plexus neuritis. Conclusions: The sustainable updated literature data warehouse of vaccine safety can provide high-quality research data for vaccine safety research, including evidence support for immunization related policy-making and adjustment and vaccine safety-related methodological research or clinical tool development; and further demonstration studies can provide references for building a new methodological framework system for timely and efficient completion of the evidence-based assessment of vaccine safety.
Artificial Intelligence ; Data Warehousing ; Humans ; Tetanus ; Tetanus Toxoid ; Whooping Cough/prevention & control*

Objective: To analyze the changes in tobacco use and exposure in primary school students in Shandong province in 2012 and 2019. Methods: A multi-stage stratified cluster random sampling method was used in the survey. In 2012 and 2019, 5 861 and 4 021 students from 3 different cities of Shandong province were selected as the study population. The questionnaire was filled anonymously by the subjects. χ² test was conducted to compare the difference of groups. Results: In 2012 and 2019, the rate of attempting smoking among pupils under this study in Shandong province were 6.0％and 6.3%, respectively, while the current smoking rate were 1.2％and 2.3%, respectively. The sex ratio of male and female students attempting to smoke was 2.56∶1 in 2012 and 1.31∶1 in 2019. The sex ratio of current smoking rate was 2.43∶1 and 2.00∶1, respectively in 2012 and in 2019. The rate of tobacco exposure in the public places was 50.5％and 41.4%, respectively. The rate of tobacco exposure in family was 49.7% and 46.4%, respectively. Two rates of tobacco exposure decreased, but the reduction in family (3.3%) was far less than that in public places (9.1%). In 2019, the rate of tobacco exposure in family was higher than that in public places. Conclusions: The tobacco exposure rate declined in senior pupils in Shandong province. However, the situation is still grim for the current smoking rate, growth trend of girls tobacco use, and tobacco exposure in family.
Cities ; Environment ; Female ; Humans ; Male ; Prevalence ; Students ; Surveys and Questionnaires ; Tobacco Smoke Pollution ; Tobacco Use/epidemiology*

Whole breast radiotherapy after breast-conserving surgery for early-stage breast cancer increases local control rate and reduces postoperative recurrence. Compared to supine position, whole breast radiation therapy in the prone position provides dosimetric advantages and cosmetic outcomes in patients with large breasts. With the development of various radiotherapy techniques and tools, the radiation volume and dose for target and organs at risk (such as heart and lung) have changed. Models for the prediction of preferable treatment position in breast radiotherapy without the need for CT simulation and plan evaluation in both positions have been developed and implemented in radiotherapy practice. This paper briefly reviews the progression in the techniques and dosimetry of whole breast radiotherapy in prone position after breast-conserving surgery for early breast cancer.

Objective To investigate the effects of mercury on T lymphocytes and serum immune indexes of workers with Methods occupational mercury exposure. A total of 45 workers with occupational mercury exposure were selected as the ， mercury exposure group and 47 workers without occupational mercury exposure were selected as the control group using the judgment sampling method. Cold atomic absorption spectrometry was used to detect the urinary mercury level of the two groups. （ ） +， + +， + + - + Flow cytometry was used to detect the proportion of cluster of differentiation CD 3 CD3CD4 CD3CD8 and CD3CD19 ， - （ - ） - （ - ） cells in peripheral blood and the levels of tumor necrosis factor α TNF α and interleukin 8 IL 8 in serum. The levels of （ ） ， Results immunoglobulin Ig A IgG and IgM in serum were measured by immune nephelometry. The urinary mercury level of （ ： vs ，P ） individuals in the mercury exposed group was higher than that of the control group median 92.7 13.2 μg/g Cr <0.01 . The +， + +， - + proportion of CD3 CD3CD4 CD3CD19 cells in peripheral blood and serum IgG level in the mercury exposed group （ P ）， - - （ P ） decreased all <0.05 and the serum TNF α and IL 8 levels increased all <0.01 compared with the control group. Urinary - + mercury level was negatively correlated with the proportion of CD3CD19 cells in peripheral blood and serum IgG level in the ［ （r） ， ， P ］， study subjects Spearman correlation coefficient S were −0.21 and −0.31 respectively all <0.05 and positively - - （r ， ， P ） ， correlated with serum TNF α and IL 8 levels S were 0.36 and 0.39 respectively all <0.05 . However the urinary mercury （ P ）， +， + +， level was neither correlated with IgA and IgM levels in serum all >0.05 nor with the proportion of CD3 CD3CD4 + + （ P ） Conclusion CD3CD8 cells in peripheral blood all >0.05 . Occupational exposure to mercury can lead to abnormal ， changes in peripheral blood T lymphocyte subsets B lymphocytes and serum immune factors in workers. The mercury load of occupational mercury exposure workers may impact their immune function.

Objectives: To investigate the prevalence and associated risk factors of tinnitus in Sichuan and Chongqing. Methods: We designed a tinnitus epidemiological questionnaire. The multi-stage stratified cluster random sampling methods was applied to obtain study subjects in six areas (Nanchong, Jiangjin, Fengdu, Yunyang, Suining and Ya'an), which were selected for epidemiological investigation. Home visit completion of epidemiological questionnaires was conducted. The trained investigators guided the respondents to fill in the tinnitus epidemiological questionnaires, and the epidemiological status of six areas on prevalence and risk factor was investigated. SPSS 22.0 software was used for statistical analysis. Results: Sampling population were 10 289, in which 9 273 were valid questionnaires. There were 4 281 males and 4 992 females, with an average age of 47.3 years, among which 34.83% (3 230/9 273) had tinnitus. 3.99% (370/9 273) were diagnosed with bothersome tinnitus. In a multivariable logistic regression mod, the following factors were associated with onsetting of tinnitus: sleep disorder [Odds Ratio(OR)=3.74] and noise exposure(OR=1.99). The risk of disease was lowest in the age of 30-40 years old, while the risk of disease was higher for people under 30 and over 40. In another multivariable logistic regression mode, the following factors were associated with having bothersome tinnitus: older people were more likely to suffer from tinnitus, sleep disorders (OR=4.68) and noise exposure (OR=1.56). Conclusions: The prevalence of tinnitus in Sichuan and Chongqing is about 34.83%, but most of the tinnitus is short-lived and has low loudness, which will not affect the patients. Only a small number of patients with tinnitus (3.99%) persist and affect their health and need treatment. The occurrence and exacerbation of tinnitus may be related to sleep, age, and noise exposure.
Adult ; Aged ; Female ; Humans ; Logistic Models ; Male ; Middle Aged ; Prevalence ; Risk Factors ; Surveys and Questionnaires ; Tinnitus/epidemiology*

With continuous discovery of tumor immune targets and continuous changes in antibody research and development technology, antibody drugs are becoming more and more widely used in clinical practice. However, some targets are not only expressed on tumor cells, but also on red blood cells. Therefore, the clinical application of antibodies against the corresponding targets may interfere with the detection of blood transfusion compatibility, resulting in difficulty in blood matching or delay of blood transfusion. This consensus summarizes the current solutions for the interference of CD38 monoclonal antibody (CD38 mAb) in transfusion compatibility testing. After analyzing the advantages and disadvantages of different methods, polybrene and sulfhydryl reducing agents [dithiothreitol (DTT) or 2-mercaptoethanol (2-Me)], as a solution for CD38 mAb interference in blood compatibility testing, are recommended for Chinese patients, so as to eliminate blood transfusion interference produce by CD38 mAb and further provide a pre-transfusion workflow for clinicians and technicians in Department of Blood Transfusion.

Objective: To understand the consistency of ALK Ventana-D5F3 immunohistochemistry (IHC) interpretation in Chinese lung adenocarcinoma among histopathologists from different hospitals, and to recommend solution for the problems found during the interpretation of ALK IHC in real world, with the aim of the precise selection of patients who can benefit from ALK targeted therapy. Methods: This was a multicenter and retrospective study. A total of 109 lung adenocarcinoma cases with ALK Ventana-D5F3 IHC staining were collected from 31 lung cancer centers in RATICAL research group from January to June in 2018. All cases were scanned into digital imaging with Ventana iSCANcoreo Digital Slide Scanning System and scored by 31 histopathologists from different centers according to ALK binary (positive or negative) interpretation based on its manufacturer′s protocol. The cases with high inconsistency rate were further analyzed using FISH/RT-PCR/NGS. Results: There were 49 ALK positive cases and 60 ALK negative cases, confirmed by re-evaluation by the specialist panel. Two cases (No. 2302 and No.2701) scored as positive by local hospitals were rescored as negative, and were confirmed to be negative by RT-PCR/FISH/NGS. The false interpretation rate of these two cases was 58.1% (18/31) and 48.4% (15/31), respectively. Six out of 31 (19.4%) pathologists got 100% accuracy. The minimum consistency between every two pathologists was 75.8%.At least one pathologist gave negative judgement (false negative) or positive judgement (false positive) in the 49 positive or 60 negative cases, accounted for 26.5% (13/49), 41.7% (25/60), respectively, with at least one uncertainty interpretation accounted for 31.2% (34/109). Conclusion There are certain heterogeneities and misclassifications in the real world interpretation of ALK-D5F3 IHC test, which need to be guided by the oncoming expert consensus based on the real world data.

Objective To systematically evaluate the association between frailty and risk of postoperative delirium.Methods Systematic review of literature was conducted using eight electronic databases:PubMed,Embase,CENTRAL,Web of Science,CNKI,CBM,VIP and Wanfang Data,and prospective cohort studies about association between frailty and postoperative delirium published before March 2017 were included.Two authors independently screened the literature,extracted the data,and assessed the quality using NOS Scale,and meta-analysis was conducted by RevMan 5.3 software.Results A total of eight studies involving 846 patients were included in this review.Meta-analysis showed that:frailty was associated with higher risk of postoperative delirium [OR=3.63,95％CI (2.06,6.40),P＜0.001].Subgroup analysis showed that:①Frailty assessment tool:Fried frailty criteria and other frailty assessment were associated with increased risk of postoperative delirium[OR=5.81,95％CI(3.54,9.77),P＜0.001],[OR=1.76,95％CI(1.06,2.92),P=0.03].②Age:frailty patients aged 60～74 had increased risk of postoperative delirium [OR=5.05,95％CI (3.14,8.12),P＜0.001],but for patients aged ≥ 75,frailty wasn't associated with postoperative delirium [0R=1.73,95％CI (0.99,3.00),P=0.05].③Type of surgery:for cardiovascular and non-cardiovascular surgery patients,frailty was associated with increased risk of postoperative delirium [OR=3.40,95％CI (1.64,7.05),P＜0.001],[OR=4.95,95％CI (2.41,10.16),P＜0.001].Conclusion Frailty can increase the risk of postoperative delirium.In consideration of quantity and quality of included studies,the conclusion needs to be validated by multi-centered prospective cohort studies with large sample size.

OBJECTIVETo compare the clinical efficacy differences between acupoint plaster therapy with midnight-noon ebb-flow hour-prescription method and traditional acupoint plaster therapy for senile osteoporosis (SOP).

METHODSWith randomized controlled blind design, 76 SOP patients with deficiency of liver and kidney syndrome were randomly divided into an observation group and a control group, 38 cases in each one. Based on oral administration of caltrate D, the patients in the observation group were treated with acupoint plaster therapy with midnight-noon ebb-flow hour-prescription method at Yingu (KI 10), Taixi (KI 3), Dazhong (KI 4), Fuliu (KI 7) and Zhiyin (BL 67), while the patients in the control group were treated with traditional acupoint plaster therapy. Each plaster therapy lasted for 6 h, once a day; there was an interval of 2 d after consecutive 5-day treatment; 4 weeks were taken as one course, and totally 2 courses were given. Visual analogue scale (VAS) and Oswestry Disability Index (ODI) were used to evaluate the pain and dysfunction before intervention, after 4 weeks and 8 weeks intervention. Osteoporosis symptom rating sale and quality of life questionnaire of the European foundation for Osteoporosis (QUALEFFO-41) were adopted to evaluate the TCM syndrome and quality of life before and after 8-week intervention.

RESULTSAll the outcomes were significantly improved after treatment in the two groups (<0.01,<0.05); after 4 weeks and 8 weeks of treatment, the VAS and ODI in the observation group were lower than those in the control group (all<0.05). Repeated ANOVA indicated the VAS and ODI were significant in group effect, time effect and interaction effect (all<0.01). Further comparison showed that VAS and ODI at later time points were lower than those in the early time points (all<0.01). After the treatment, the scores of TCM syndrome and QUALEFFO-41 in the observation group were lower than those in the control group (all<0.05). The effective rate was 85.7% (30/35) in the observation group, which was superior to the effective rate in the control group[74.3%(26/35),<0.05].

CONCLUSIONSThe acupoint plaster therapy with midnight-noon ebb-flow hour-prescription method is superior to traditional acupoint plaster therapy in improving pain, dysfunction, TCM syndrome and quality of life in SOP patients; in addition, its clinical efficacy is significant.