OBJECTIVE: To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists. METHODS: By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements. RESULTS: The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development. CONCLUSION Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans ; China ; Surveys and Questionnaires ; Genetic Diseases, Inborn/genetics* ; Cross-Sectional Studies ; Genetics, Medical/education* ; Genetic Testing

ObjectiveTo investigate the correlation between neutrophil-to-lymphocyte ratio （NLR）， platelet-to-lymphocyte ratio （PLR）， systemic immune-inflammation index （SII） and the severity of intrauterine adhesions （IUA）. MethodsThe retrospective study included 380 patients who underwent transcervical resection of adhesions （TCRA） from December 2019 to March 2025. Based on the American Fertility Society （AFS） classification， patients were divided into mild （n=61）， moderate （n=225）， and severe （n=94） groups. NLR， PLR， and SII were calculated from preoperative blood tests. Statistical analyses included Kruskal-Wallis test and ordinal Logistic regression. ResultsNLR， PLR， and SII were significantly higher in the severe IUA group compared to the mild group （P<0.05）， with SII showing the strongest predictive ability （OR=1.004， P=0.001）. The number of intrauterine procedures was an independent risk factor （OR=1.27/level， P=0.016）. The predictive model ［Logit（P）=-0.676+0.241×operation times+0.004×SII］ effectively identified severe IUA cases. ConclusionInflammatory markers （particularly SII） are correlated with IUA severity and may serve as non-invasive tools for clinical assessment.

ObjectiveTo evaluate the pregnancy outcomes of assisted reproductive technology （ART） in women with a history of thyroid cancer who retained fertility intentions after completing cancer treatment. MethodsA retrospective analysis was performed on 61 patients with a history of thyroid cancer who underwent in vitro fertilization/intracytoplasmic sperm microinjection and embryo transfer （IVF/ICSI-ET）. These patients were included as the case group. A total of 122 non-cancer patients who received ART during the same period were selected as the control group using 1∶2 matching based on age and oocyte retrieval time. Baseline characteristics， outcomes of the first ART cycle， and cumulative pregnancy outcomes were compared between the two groups. ResultsThere was no significant difference in the basic data， the total amount of gonadotropin （Gn） and the days of use between the case group and the control group （P>0.05）. However， the case group had significantly fewer retrieved oocytes， mature oocytes （MII）， lower fertilization and cleavage rates， and fewer transferable and high-quality embryos， as well as fewer embryos transferred during the first cycle （P < 0.05）. However， there was no significant difference in the rate of first embryo implantation and first clinical pregnancy between the two groups （P>0.05）. In the analysis of cumulative outcomes， the two groups did not show statistically significant differences in the cumulative pregnancy rate， clinical pregnancy rate per transfer cycle， the number of oocyte retrieval cycles required per live birth， the number of embryo transfer cycles required per live birth， and the number of embryos used for each live birth （P>0.05）. However， the cumulative live birth rate was significantly lower in the case group compared to the control group （P=0.005）. ConclusionAfter treatment for thyroid cancer， when ART is used to help pregnant women， the pregnancy outcome is comparable to that of women without tumors. Individualized reproductive management and timely fertility preservation strategies are recommended to optimize reproductive outcomes in this population.

Abstract The prevention and control of myopia in Chinese children and adolescents has become a major public health issue. While maintaining increased outdoor activity as a cornerstone intervention, there is an urgent need to explore new complementary approaches that can be effectively implemented in both indoor and outdoor settings. In recent years, environmental spatial frequency has gained increasing attention as one of the key environmental factors influencing the development and progression of myopia. Both animal studies and human research have confirmed that indoor environments lacking mid to high spatial frequency components, often characterized as "visually impoverished", can promote axial elongation and myopia through mechanisms such as disruption of retinal neural signaling, impaired accommodative function, and altered expression of related molecules. Based on the scientific consensus, it is recommended that "enriching of environmental spatial frequency" should be integrated into the myopia prevention and control framework. Following the principles of schoolled organization, family cooperation, community involvement, and student participation, specific measures are put forward in three areas：optimizing school visual settings, improving home spatial environments, and promoting healthy visual behavior. The aim is to create "visually friendly" indoor environments as an important supplement to outdoor activity, thereby providing a novel perspective and strategy for comprehensively advancing myopia prevention and control among children and adolescents.

BACKGROUND/OBJECTIVES: Unhealthy diets are associated with chronic stress. An allostatic load (AL) is a comprehensive physiological index that measures the chronic stress response of the body. As a healthy dietary pattern, the role of Dietary Approaches to Stop Hypertension (DASH) in the development of an AL during pregnancy remains unclear. This study examined the relationship between the DASH dietary pattern and AL during pregnancy. SUBJECTS/METHODS: This study was a prospective study. From January 2024 to November 2024, 134 pregnant women in the second trimester (23–27 weeks) and third trimester (32–36 weeks) of pregnancy who met the inclusion and exclusion criteria in the obstetrics clinic of a tertiary general hospital in Anhui Province were selected for a questionnaire survey, physical examination, and laboratory examination. The DASH dietary pattern was assessed using the DASH scoring tool, and the total AL score was calculated using nine biomarkers that represent the cardiovascular, metabolic, and immune systems. Logistic regression was used to analyze the relationship between the DASH score and AL. RESULTS: One hundred and thirty-four pregnant women were included in this study. At the second and third trimesters, 41.8% and 37% of pregnant women, respectively, were in the high AL group. The binary logistic regression results showed that the DASH score was negatively correlated with the AL in the unadjusted model (odds ratio [OR], 0.878; 95% confidence interval [CI], 0.807–0.957; P = 0.003) and adjusted model (OR, 0.878; 95% CI, 0.792–0.973; P = 0.013) in the second trimester, the DASH score was negatively correlated with the AL in the unadjusted model (OR, 0.832; 95% CI, 0.758–0.913; P < 0.001) and adjusted model (OR, 0.806; 95% CI, 0.716–0.908; P < 0.001) in the third trimester. CONCLUSION The DASH score was negatively correlated with the AL in pregnant women.A low DASH score may increase the risk of a high AL, which may have adverse effects on physical and mental health.

Objective: To understand the subjective and objective comfort evaluations of students from different age groups on desks and chairs, so as to provide reference for standardized allocation and use of desks and chairs. Methods: From January to April 2024, a total of 2 446 students were selected from 26 schools in 13 districts (counties/cities) in Shanghai, Tianjin, and Wuxi from Jiangsu Province by using cluster random method, including students in kindergartens, primary schools, junior high schools,senior high schools, colleges and universities. Standardized procedures were used to measure the height and weight of participants, and the matching desks and chairs models were selected according to the height. The subjective comfort of students on matching desks and chairs was investigated, and their objective comfort was evaluated by using a self designed questionnaire. The χ 2 test was used to analyze the differences of subjective perception and objective evaluation in comfort between different types of desks and chairs. Results: About 84.1% of the students subjectively thought that large desks and small chairs were very comfortable or relatively comfortable, followed by large desks and chairs (75.7%), and the proportion of small desks and chairs was the lowest among the three types (46.2%), and the difference was statistically significant ( χ 2=722.46, P <0.01). The reporting rates of primary school, junior high school and senior high school students who subjectively considered large desks and chairs to be very comfortable/relatively comfortable were higher than that of other types of desks and chairs, and the differences were statistically significant ( χ 2=297.49, 252.82, 343.67, P <0.01). However, there was no significant difference in the subjective comfort evaluation of different types of desks and chairs among kindergarten children ( χ 2=3.21, P >0.05), and 66.3% of the students in colleges and universities felt very comfortable/relatively comfortable when they used the matching standard desks and chairs. The objective evaluation results of the comfort for the three types of desks and chairs were consistent with the subjective evaluation, but the proportions of the objective evaluation as very comfortable/relatively comfortable were higher than that of the subjective evaluation ( χ 2=20.76- 813.47, P <0.01). Conclusions Large desks and chairs, as well as large desks with small chairs are perceived comfortable, while small desks and chairs are perceived less comfortable. It is recommended to match the large desks and chairs or large desks and small chairs that are suitable for them according to the "standard", to promote physical and mental health of students.

Objective:To observe changes in intestinal flora in children with anorexia and the effects of pediatric Tuina(Chinese therapeutic massage)on their intestinal flora,and to explore the relationship between alterations in intestinal flora and anorexia,as well as the therapeutic mechanisms of pediatric Tuina in treating children with anorexia.Methods:A total of 60 healthy children who underwent physical examinations were recruited as the blank group.One hundred and twenty children with anorexia were randomly divided into a Tuina group and a medication group,with 60 children in each group,according to the random number table method.The blank group received no intervention;the Tuina group was treated with pediatric Tuina therapy;the medication group was treated with Jian Wei Xiao Shi(stomach-invigorating and digestion-promoting)tablets.Both groups underwent continuous treatment for 7 d as one course,with a 1-day rest period between courses,for a total of 4 courses.Fecal samples were collected from the three groups.The intestinal flora was detected using the 16S rDNA method.Results:Before treatment,compared to the blank group,the abundance of Firmicutes in the Tuina and medication groups was significantly lower(P<0.05).After treatment,the abundance of Firmicutes in the Tuina group was significantly increased compared to before treatment(P<0.05),with no significant difference compared to the blank group(P>0.05);in the medication group,there was a trend of increased abundance of Firmicutes,but there was no significant difference compared to that before treatment in the same group(P>0.05),and the difference compared to the blank group remained significant(P<0.05).Before treatment,compared to the blank group,the abundance of Faecalibacterium prausnitzii(F.prausnitzii)in the Tuina and medication groups was significantly lower(P<0.05).After treatment,the abundance of F.prausnitzii in the Tuina group was significantly increased compared to before treatment(P<0.05),with no significant difference compared to the blank group(P>0.05);in the medication group,there was a trend of increased abundance of F.prausnitzii,but no significant difference was showed compared to before treatment in the same group(P>0.05),and the differences compared to the blank and Tuina groups were significant(P<0.05).Before treatment,compared to the blank group,the abundance of Eubacterium in the Tuina and medication groups was significantly lower(P<0.05);after treatment,the abundance of Eubacterium in both Tuina and medication groups was significantly increased compared to that before treatment(P<0.05),with no significant difference compared to the blank group(P>0.05).Before treatment,compared to the blank group,the abundance of Roseburia in the Tuina and medication groups was significantly lower(P<0.05);after treatment,the abundance of Roseburia in both Tuina and medication groups was significantly increased compared to that before treatment(P<0.05),with no significant difference compared to the blank group(P>0.05).Conclusion:The reduction of beneficial intestinal flora may be involved in the pathogenesis of pediatric anorexia.Pediatric Tuina can promote the recovery of intestinal flora balance by increasing the abundance of beneficial flora.

Objective:To investigate the longitudinal trajectories of symptom clusters in elderly patients with laparoscopic surgery for colon cancer, and explore the predictive factors for each trajectories subgroup.Methods:Using a longitudinal survey, elderly patients with laparoscopic surgery for colon cancer patients from Shanxi Bethune Hospital from January 2021 to January 2024 were collected by convenient sampling method. The Chinese Version of the MD Anderson Symptom Inventory Gastrointestinal Cancer Module was used to conduct follow-up surveys of the selected patients at 2 weeks, 1 month, 3 months and 6 months after surgery. The symptom cluster was extracted by exploratory factor analysis, and the latent category growth model was conducted to identify the trajectory subgroups of each symptom cluster, the predictive factors of each trajectory subgroup was analyzed by multiple Logistic regression analysis.Results:A total of 118 cases were concluded in the present study, there were 69 males and 49 females with an age of (74.85 ± 3.29) years old. There were 4 symptom clusters after surgery, which were named as energy deficit symptom cluster, digestive tract symptom cluster, sleep mental symptom cluster, and psychological fatigue symptom cluster, the variance contribution rates were respectively 62.486%, 71.209%, 73.937%, 63.476%. The results from latent class growth model showed that there were 3 trajectory subgroups in the symptom cluster: high level-slow decline group accounted for 33.0% (39/118), moderate level-stable decline group accounted for 39.0% (46/118), low level-rapid decline group accounted for 28.0% (33/118). College education or above tends to developed into low level-rapid decline group ( OR=0.365, 95% CI 0.083-0.603, P<0.05), while patients undergoing traditional laparoscopic surgery ( OR=3.679, 95% CI 1.297-4.432, P<0.05) and primary tumor stages of Ⅲ-Ⅳ were more likely to developed into high level-slow decline group ( OR=0.333, 95% CI 0.120-0.920, P<0.05). Conclusions:There are 4 symptom clusters in elderly patients with laparoscopic surgery for colon cancer, and the characteristics of postoperative symptom cluster changes demonstrate significant heterogeneity, medical staff should pay attention to the management of symptom clusters trajectory categories, dynamically adjust intervention plans to improve nursing quality.

Objective To evaluate the protective effect of Schistosoma japonicum cystatin(rSj-Cystatin)in a mouse mode of"two-hit"sepsis.Methods Sixty male C57BL/6 mice randomized equally into sham-operated group,protein group,"two-hit"modeling group,and protein intervention group.In the former two groups,the mice received an intraperitoneal injection of 100 μL PBS followed by exposure of the cecum and then by intraperitoneal injection of 100 μL PBS or 25 μg rSj-Cystatin 30 min later;In the latter two groups,100 μL PBS containing LPS(5 mg/kg)was injected intraperitoneally 24 h before cecal ligation and puncture(CLP),and 100 μL PBS or 25 μg rSj-Cystatin were injected 30 min after CLP.At 12 h after rSj-Cystatin treatment,6 mice from each group were sacrificed for detection of TNF-α,IL-6,IL-10,TGF-β,iNOS and Arg-1 in the serum,spleen,liver,lung and kidney tissues using ELISA,for examinations of liver,lung and kidney pathologies with HE staining,and for analysis of CD3+CD4+CD25+Foxp3+T cell percentage in the spleen using flow cytometry.The remaining mice were observed for general condition and 72-h survival.Results The 72-h survival rates in the 4 groups were 100％,100％,0％and 20％,respectively,showing significant differences between the latter two groups.The mouse models of"two-hit"sepsis exhibited obvious tissue pathologies and significant elevations of TNF-α and IL-6 in both the serum and tissue homogenate,which were significantly ameliorated by rSj-Cystatin treatment.Treatment with rSj-Cystatin also increased IL-10 and TGF-β levels and spleen CD3+CD4+CD25+Foxp3+T cell percentage.The septic mouse models also showed increased iNOS levels in all the detected tissues and a decreased Arg-1 level in the kidney,and these changes were obviously improved by rSj-Cystatin treatment.Conclusion rSj-Cystatin has a protective effect against"two-hit"sepsis in mice by regulating the inflammatory microenvironment.

Humanistic caring for patients in the operating room refers to providing the whole process of caring medical services for patients in the operating room. In order to standardize humanistic caring services for patients in the operating room of medical institutions, improve the comprehensive service level of the operating room, and enhance the surgical experience of patients, the Chinese Association for Life Care released the group standard " Humanistic Caring Management Standards for Patients in the Operating Room" in December 2023. This article interpreted the basic requirements for humanistic caring of patients in the operating room, the environment and facilities for humanistic caring, the procedures and measures for humanistic caring, and the quality management framework, aiming to assist administrators and clinical practitioners across various levels of medical institutions in accurately understanding and effectively implementing the standard, and to provide essential textual reference and practical guidance for promoting the application of the standard.