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Background Community health service center is the main gatekeeper for breast cancer screening, while its efficacy of screening is difficult to guarantee for the re-striction of screening process by various factors. Objective To analyze the focus issue of breast cancer screening program in the real world and explore corresponding solutions. Methods A mixed-methods convergent design was used to collect quantitative and quali-tative data. In the quantitative study, typical sampling method was used to select one community health service center in each of the four districts of Tianjin as the investigation institution from April 2021 to November 2022, accidental sampling method was used to select age-eligible women within 3 km of the four institutions as resident survey respondents, so as to explore the issues existing in the on-site operation of breast cancer screening. In the qualitative study, 9 residents, 12 physicians participating in the screening and 4 leaders were selected through purposive sampling from June to November 2022 for semi-structured in-terviews. The grounded theory was used to analyze the interview content, and the grounded theory framework of the focus issues of breast cancer screening was plotted. Combined with literature and typical investigation data, a mixed methods study was conducted to determine the focus issues of breast cancer screening. Results The quantitative study showed that in the advocacy work, the promotion method is traditional, the awareness rate and participation rate of residents was 46.3% (143/309) and 32.4% (100/309) , respectively; in the screening work, the institutions invested different human and material resources, and the average waiting time of screening residents accounted for 62.2% (40.5/65.1) of the total time; in the follow-up and referral work, the invested human and material resources were little, the mammography referral compliance of residents was 29.9% (59/197) . The qualitative study showed that a total of 38 comprehensive open codes were formed in the interview and converged into 10 axial codes and 3 core codes, including advocacy organization, screening organization, follow-up and referral. The mixed methods study showed that 3 focus issues were identified in final, including how to improve residents' participation rate, how to ensure adequate human and material resources in screening institutions, and how to improve residents' mammography referral compliance. Conclusion The efficacy of breast cancer screening is influenced by advocacy organization, screening organization, follow-up and referral. It is necessary to rationally allocate resources to ensure adequate human and material resources for screening institutions; innovate promotion methods, expand coverage of promotion and improve residents' health literacy, participation rates and mammography referral compliance, to ensure the substantial progress of breast cancer screening and provide reference for opti-mizing the efficacy of breast cancer screening.

Background Due to many barriers, it is difficult for primary medical institutions to ensure substantial achievements in breast cancer screening. So it is particularly important to establish a system for scientifically and effectively assessing the capacities of primary care institutions in conducting breast cancer screening. Objective To construct a system for assessing the capacities of primary care institutions for conducting breast cancer screening. Methods From September to October 2022, through literature review and group discussion, we developed an item pool of the initial version of Breast Cancer Screening Capacity Assessment System for Primary Care Institutions (BCSCASPCI) . Then we conducted an online Delphi survey between November and December 2022 using a self-developed questionnaire with a purposive sample of 21 experts for understanding their views regarding the initial version of BCSCASPCI, and the response coefficient, authority coefficient, and the Kendall's W of the survey were calculated. Finally, based on the results of the survey and a group discussion, the final version of the BCSCASPCI was determined. The Analytic Hierarchy Process was used to determine the weight coefficients of its indicators and to examine the logical consistency of indicators. Results All the experts returned effective questionnaires, achieving a response rate of 100.0%, and the authority coefficient was 0.812, and the Kendall's W was 0.209 (P

Background The low coverage rate of breast cancer screening has affected the prevention and control effect of breast cancer in China. Factors related to the screening coverage rate include multiple aspects of the screening implementation process. Objective Based on the implementation process of breast cancer screening in China, this study aims to simulate the changes in the breast cancer screening coverage rate before and after the implement optimization measures to provide suggestions for optimizing the breast cancer screening coverage rate in China. Methods From July to September 2022, we systematically searched the journal literature on female breast cancer screening in four databases, PubMed, Web of Science, China National Knowledge Infrastructure (CNKI) and Wanfang Data to collate and summarize the relevant influencing factors of women's screening behaviors. Collating and analysing the breast cancer screening pathways and systematic subjects of breast cancer screening in China based on the official documents of the relevant governmental websites on breast cancer screening. Based on China's breast cancer screening pathways, screening subjects and screening behavioral correlates, we constructed the causality diagram of the breast cancer screening coverage and the stock flow diagram of the system dynamics of the breast cancer screening coverage. Simulating the effects of some optimisation strategies for breast cancer screening coverage in China, 2010-2040. Results The model simulates previous screening strategies and policy resource environment. Breast cancer screening coverage gradually increased to 40% between 2010 and 2013. From 2013 to 2040, it fluctuates between 40% and 45%, showing a trend of slow decline at first and then a slow rise. Policy intervention scenarios, based on the improved population's screening intention and screening accessibility strategy, respectively simulated five kinds of optimization measures of breast cancer screening coverage rate from 2024. The five measures are as follows: (1) focusing on publicity and education, (2) standardizing the quality of screening services, (3) controlling per-case screening costs, (4) doubling the number of special breast cancer screening slots, (5) standardizing the quality of screening services and controlling per-case screening costs. The measure of focusing on publicity and education will increase rapidly coverage rate during 2024-2030 to 60.38%, then increase slowly to 66.04% during 2031-2040. The screening coverage rate will rapidly increase to 60.27% before 2029, after standardizing the quality of screening services. Then it will slowly increase to 66.04% from 2030 to 2040. After controlling per-case screening costs, the screening coverage rate will increase from 46.95% to 54.17% in 2024-2026. Then the screening coverage rate up to 58.95% in 2027-2040. Compared with no optimization measures during 2024-2040, doubling the number of special breast cancer screening slots will only increase the screening coverage rate by 1%-2%. The screening coverage rate in 2024-2040 increased from 46.95% to 86.79%, after standardizing the quality of screening services and controlling per-case screening costs. Conclusion Breast cancer screening coverage is projected to fluctuate from 41.7% to 46.0% in China from 2024 to 2040. Improving screening intention or accessibility can improve screening coverage, but the two optimization measures have their own upper limits. Meanwhile, in the Chinese population, the optimization measures to improve screening intention are better than the optimization measures to improve screening accessibility. Combined optimization measures to improve population's screening intention and screening accessibility can break through the upper limit of their respective promotion and have a better effect on improving screening coverage.

Objective: To analyze the genetic phenotype of a pediatric chronic phase chronic myeloid leukemia(CML-CP) patient with a rare BCR-ABL1 fusion transcript and evaluate the therapeutic effect of tyrosine kinase inhibitor (TKI), also we review the reported cases in the databases to explore the treatment and prognosis in chronic myeloid leukemia with e8a2 BCR-ABL1 fusion gene. Methods: A 3-year-old girl was diagnosed with CML-CP in our hospital，the laboratory results and treatment were analyzed. Treatment and response to TKI inhibitors in the CML-CP patients presented with a novel e8a2 fusion gene were reviewed by searching the databases of pubmed and wanfang. Results: The patient was admitted to our hospital due to skin ecchymosis and cervical lymph node swelling，and was diagnosed as CML by bone marrow cell morphology, but P190, P210 and P230 were negative in peripheral blood and bone marrow examination. BCR (e8) -FIBCD1-ABL1 (a2) fusion gene was positive in peripheral blood by Nested RT-PCR. A total of 26 CML patients with e8a2 BCR-ABL1 fusion transcript in the database were reviewed, all of which were adult cases. In the literature, 21 patients received TKI inhibitor treatment, 19/21 (90.4%) achieved different degrees of molecular response. This case onset with elevated white blood cells and thrombocytopenia,and after imatinib treatment， the patient had achieved complete hematologic remission, and the BCR-ABL1 fusion gene transcript could not be detected. However, the bone marrow chromosomes showed a complex karyotype of 38-40,XX,-7,-17,-20,-21,-22[cp7] /46,XX at the follow-up of 39 months. Conclusions: CMI-CP with e8a2 BCR-ABL1 genotype is rare, we first report this atypical e8a2 BCR-ABL1 transcript expression in pediatric CML patient. Although complete hematological remission continued after TKI inhibitor treatment, an abnormal karyotype was found in bone marrow chromosomes, suggesting that this variant genotype may have a poor prognosis, and following up closely is necessary.

Objective: To analyze the clinical features and genetic changes of 3 children in short stature with ACAN gene mutation. Methods: The clinical data, laboratory examinations, and genetic testing results of 3 children with ACAN gene mutations diagnosed with short stature at our pediatric endocrine disease clinic from 2018 to 2020 were collected, and the literature was reviewed for analysis and summary. Results: All the three children had a short family history, and their clinical manifestations were short stature. One patient had a slight limitation of the flexion activity of the thoracolumbar spine, and no other system abnormalities were found. Among them, the oldest of the 3 children was 5 years and 1 month, and the bone age was roughly consistent with or slightly advanced than the actual age, and the peak growth hormone challenge in 2 cases was less than 10 μg/L. The variations in the ACAN gene are c.G1877A and c.7360, respectively_ 7361del and c.7038_ 7039insCGGTGT, case 1 and case 2 are novel mutations that have not been reported in major databases. After the application of recombinant human growth hormone, the height of all three children improved. Reviewing the literature at home and abroad, we found that there were 120 children and 216 relatives reported at present. Among them, there were 80 ACAN gene variants related to short stature registered in HGMD, of which short stature was the most important clinical manifestation, followed by skeletal dysplasia. Conclusions: Mutations of ACAN gene mainly lead to short stature and skeletal dysplasia in children, and their clinical bone phenotypes are diverse, which can also only be manifested as short stature. For children with short stature, especially those with short stature family history, no matter whether they have skeletal abnormalities, they should be alert to this gene mutation.

Background Breast cancer is the leading cause of death among women worldwide, characterized by high incidence and heavy disease burden. Objective To assess the secular trend of breast cancer incidence and mortality in Chinese females from 1990 to 2019. Methods The data on breast cancer incidence and mortality in Chinese females aged ≥15 years from 1990 to 2019 were extracted from the Global Burden of Disease Study 2019. The Bayesian age-period-cohort (APC) model was used to fit breast cancer incidence and mortality trends during 1990—2019 to assess the effects of age, period and cohort on breast cancer incidence and mortality. Results The crude incidence of breast cancer among Chinese females increased from 14.14/100 000 to 52.81/100 000, and the crude mortality increased from 7.22/100 000 to 13.40/100 000 during 1990—2019.The standardized incidence of breast cancer showed an increasing trend in general (17.07/100 000 in 1990, 35.61/100 000 in 2019) , while the standardized breast cancer mortality was basically stable (9.16/100 000 in 1990, 8.98/100 000 in 2019) .The results of the APC model showed that the average net drift value of breast cancer incidence in females of all age groups was 2.58%〔95%CI (2.34%, 2.83%) 〕, and the highest value of local drift was 3.46%〔95%CI (3.11%, 3.80%) 〕 in the 65-69 years old group. The average net drift value of mortality was -0.75%〔95%CI (-1.09%, -0.41%) 〕. The local drift value was stable in 15-44-year-olds, and was above 0 in age groups above 60 years old. The incidence and mortality of breast cancer increased with age. The period effect of incidence showed an increasing trend (RR: 0.79-1.47) , while the period effect of mortality showed a decreasing trend (RR: 1.08-0.90) when the period of 2000—2004 was set as the control group. The cohort effect of breast cancer incidence increased (RR: 0.27-2.48) , and the cohort effect of breast cancer mortality risk increased firstly and decreased after then (RR: 0.78-1.06-0.44) when the cohort of 1955—1959 was set as the control group. Conclusion The incidence and mortality of breast cancer in Chinese females increased continuously from 1990 to 2019, which was dominantly influenced by age and cohort.

Objective: To investigate the gut microbiota distribution and antibiotic resistant genes (ARGs) carrying- status in the girls with precocious puberty (PP). Methods: A total of 29 girls were enrolled in the study, including 21 girls with precocious puberty (PP) [11 girls with central precocious puberty (CPP group), 10 girls with premature thelarche (PT group)], and 8 age-matched healthy girls (NC group). The fecal samples were analyzed to explore difference in composition of gut microbiota and ARGs numbers between the PP (CPP+PT) and NC groups using shotgun metagenomic sequencing. Results: The composition and abundance of gut microbiota in the PP girls were different from the NC girls. The relative abundances of top three gut microbiota in CPP, PT and NC girls were 50.03%, 37.73% and 67.61% for Firmicutes, 33.00%, 43.26% and 10.32% for Bacteroidetes, and 4.26%, 4.22% and 11.16% for Actinobacteria. Compared with the NC girls, the PP girls had a significantly higher abundance of Bacteroidetes (P=0.034) and much lower abundance of Firmicutes (P=0.006) and Actinobacteria (P

Background This study aimed to assess the association between outdoor activity and myopia among children and adolescents and investigate whether sleep time could mediate this relationship. Methods This cross-sectional study was performed on students aged 4–16 years in China, from August 2021 to January 2022. Outdoor activity was assessed by the Assessment Questionnaire of Exposure to Sunlight Activities for Students (AQESAS). Binary logistic regression combined with the mediation analysis was used to analyze the association of AQESAS with myopia and the mediating effect of sleep time on this relationship. Results The prevalence of myopia was 53.51% (N  = 1609). Multivariate logistic regression analysis showed that more sleep time (OR = 0.794, 95%CI: 0.707–0.893) and a higher score of AQESAS (OR = 0.989, 95%CI: 0.981–0.996) were significantly associated with a decreased risk of myopia. Mediation analysis revealed that sleep time plays a mediating role in the association between outdoor activity and myopia (ACME = −0.0006, P  < 0.001), and the mediation proportion was 19.7%. Conclusion Outdoor activity affects myopia directly and indirectly through sleep time. The result suggested that children may be able to reduce the risk of myopia by promoting sleep through increased awareness of outdoor activity and exposure to sunlight. [ABSTRACT FROM AUTHOR]

Central precocious puberty (CPP) refers to a syndrome of early puberty initiation with a characteristic increase in the release of gonadotropin‐releasing hormone (GnRH); therefore, it is also called GnRH‐related precocious puberty. About a quarter of idiopathic central precocious puberty (ICPP) may be familial. Studies suggest that mutations of makorin ring finger protein 3 (MKRN3) can cause familial central precocious puberty (FCPP). In this report, we describe a Chinese female patient carrying a novel MKRN3 variant (c.980G>A/p.Arg327His) and presenting the CPP phenotype. This novel variant attenuated its own ubiquitination, degradation, and inhibition on the transcriptional and translational activity of GNRH1, which was verified through functional tests. We can consider this variant as a loss‐of‐function mutation, which subsides the inhibition of GnRH1‐related signaling and gives rise to GnRH‐related precocious puberty. [ABSTRACT FROM AUTHOR]