Objective To examine the significance of susceptible gene detection for hereditary cancer syndrome (HCS) among general population. Methods A total of 2 928 individuals undergoing routine health examinations in Healthcare Center of Zhongshan Hospital, Fudan University, from September 2021 to April 2024 were enrolled retrospectively. Next generation sequencing was employed to identify susceptible genes for HCS. American College of Medical Genetics and Genomics (ACMG) guideline was used to analyze the pathogenicity of variants. Clinical data, imagings, follow-up data were also collected. Results The overall mutation rate of HCS panel was 3.59% (105/2 928), with 0.61% (18/2 928) for MutY DNA glycosylase (MUTYH), 0.27% (8/2 928) for breast cancer susceptibility gene 1/2 (BRCA1/2) and 0.23% (7/2 928) for mismatch repair (MMR) genes. Conclusions Healthy individuals carrying tumor susceptible genes usually lack the relevant clinical phenotypes. Whether comprehensive testing needs to be carried out among healthy people remains to be further explored.

Objective To evaluate the clinical efficacy of artificial intelligence(AI)-assisted imaging diagnostic trials using multi-reader multi-case(MRMC)design,so as to provide a scientific basis for clinical evaluation of imaging diagnostic trials.Methods The MRMC design,widely used in imaging diagnostic trials,was adopted in this study.The Obuchowski-Rockette(OR)method of MRMC design was detailed,including model construction and test methods.A case study was conducted,collecting imaging data of 200 subjects from 3 hospitals,with 133 cases of rib fractures and 68 cases of non-rib fractures.Three radiologists reviewed all CT images of the subjects.The area under curve(AUC)value,sensitivity and specificity in detecting rib fractures between 2 reading modalities(radiologists with AI assistance vs radiologists reading independently)were compared.Results The AI-assisted reading group had an AUC value of 0.958,while the radiologist-independent reading group had an AUC value of 0.902,showing a significant difference(P＜0.001).The overall sensitivity and specificity of the AI-assisted reading group were 0.970 and 0.946,respectively;while the sensitivity and specificity of the radiologist-independent reading group were 0.838 and 0.966,respectively.The difference of sensitivity between groups was 0.131(95％confidence interval[CI]0.091-0.171),and the difference of specificity was-0.020(95％CI-0.059-0.020),indicating a significant difference in sensitivity but not in specificity between AI-assisted and radiologist-independent reading groups.Both groups had positive likelihood ratios(+LR)greater than 10 and negative likelihood ratios(-LR)less than 0.2,with positive predictive values approaching 1,suggesting that the diagnostic accuracy of the AI-assisted imaging diagnostic trials was high.Conclusion The AI-assisted reading method demonstrates a significant advantage in enhancing diagnostic efficiency,not only improving the diagnostic accuracy and detection rate of rib fractures,but also improving the work efficiency of radiologists and optimizing hospital services.

Objective To estimate the sample size of radiological diagnostic tests in multireader multicase(MRMC)design,and to explore the numbers of readers and cases under 3 different inference situations:random-reader random-case,fixed-reader random-case,and random-reader fixed-case.Methods The images of 114 participants(45 cases diagnosed as aortic coarctation by the gold standard)in the Van Dyke dataset were used,and 5 radiologists read these images under 2 different magnetic resonance imaging(MRI)sequences(Spin-echo and Cine MRI)to obtain the pre-experiment data.Then Obuchowski-Rockette method was used to estimate sample size.Results The mean area under curve(AUC)of aortic coarctation determined by radiologists was 0.941(95%confidence interval[CI]0.899-0.983)with the Spin-echo MRI sequence,and 0.897(95%CI 0.837-0.957)with the Cine MRI sequence.When the effect size was 0.044 and the number of readers was 5,we needed 337 participants for random-reader random-case,162 participants for fixed-reader random-case,and 282 participants for random-reader fixed-case.Conclusion In MRMC design,we need both the number of readers and cases;the larger the number of readers,the smaller the cases required.We need more samples under the situation of random-reader random-case,when the number of readers is≥5.

ObjectiveTo analyze the epidemic characteristics of measles and rubella in Pudong New Area of Shanghai from 2013 to 2022， and to provide data support for the elimination of measles and rubella. MethodsEnzyme linked immunosorbent assay was used to detect IgM antibodies in serum samples. The sequence of 630 nucleotides at the C-terminal of N gene of measles virus was amplified by reverse transcription-polymerase chain reaction and the phylogenic tree was constructed. ResultsA total of 1 529 suspected cases of measles were detected from 2013 to 2022， among which the positive rate of measles IgM antibody was 33.55% （513/1 529）. The highest positive rate （20.73%） was from March to May ， and the positive rate of rubella IgM antibody was 6.80% （104/1 529）. The positive rate of both IgM was higher in males than that in females （P<0.05）. The IgM against measles was mainly detected in 0‒ years old （63.16%， 96/152） and 20‒ years old （45.61%， 161/353）. The IgM against rubella was mainly detected in 10‒20 years old （27.27%， 18/66）. The IgM antibody could be detected more easily from 4 to 28 days after eruption， and the IgM antibody positive rate of measles/rubella from 2020 to 2022 was significantly lower than previous years （2013‒2019）. There were 2 D8 genotype strains， and the rest were H1a gene subtypes. ConclusionThe positive rate of IgM antibodies against measles/rubella in Pudong New Area of Shanghai decreased significantly. People aged 0‒ years and 20‒ years old are more susceptible to measles， and rubella is concentrated in 10‒ years old. It is necessary to strengthen the vaccination of school-age children， in order to achieve the goal of eliminating measles. The age group with high risk of exposure should be checked for vaccination status to ensure the enhanced immunization， and the surveillance of imported measles cases should be strengthened.

Objective To understand the current status and influencing factors of patient perception for humanistic care in China hospitals,and to provide a basis for developing nursing humanistic care measures and improving the quality of nursing humanistic care services.Methods A total of 30,099 outpatients and inpatients from 107 hospitals in 30 provinces(autonomous regions and municipalities)from July to August 2022 as survey subjects.A general information questionnaire and the Relational Caring Questionnaire-Patient Form were used for a cross-sectional survey,and a single-factor analysis was used to analyze the influencing factors of patient relationship care.Results Finally,29 108 valid questionnaires were collected,and the effective questionnaire recovery rate was 96.7％.The patient evaluation of relationship care was(65.72±8.61)points.Single-factor analysis showed that gender,age,marital status,children's situation,education level,occupation,place of residence,average family income,medical insurance type,visiting department,and location of the visiting hospital,and whether or not surgery were influencing factors of patient relationship care(P＜0.05).Conclusion The evaluation score of caregiver-patient relationship care among Chinese hospital patients is above average,but there is still room for improvement in western and rural regions,seriously ill and outpatient patients,low-income and low-medical insurance reimbursement populations,and non-surgical patients.Medical institutions at all levels should optimize and improve nursing humanistic care services based on influencing factors,and further enhance patients'perception of nursing humanistic care.

Objective To evaluate the effects and mechanisms of frozen-thawed platelet-rich plasma(PRP)stored at-80 ℃ on wound healing-related cells.Furthermore,to explore the feasibility and effectiveness of using cryopre-served PRP at low temperatures for promoting wound healing.Methods Using non-activated fresh PRP,calcium-activated fresh PRP,and post-thawed PRP,co-cultured with macrophages,fibroblasts,and vascular endothelial cells,the study measured and compared the expression of polarization and inflammatory factors associated with macropha-ges,as well as cell migration and proliferation rates,among other indicators,to analyze the effects of PRP on macro-phage polarization,inflammation,and cell proliferation.Results Compared with the control group,post-cryopre-served PRP at ultra-low temperatures resulted in decreased expression of M1-like polarized macrophage gene iNOS(P＜0.000 1),reduced NO secretion(P＜0.001),increased urea content(P＜0.000 1),decreased M1-related inflammatory factor tumor necrosis factor-alpha(TNF-α)(P＜0.001),and decreased secretion of white blood cell interleukin(IL)-1(P＜0.001);M2-related anti-inflammatory factor IL-10 secretion levels increased(P＜0.01),and IL-12 secretion increased(P＜0.05)Furthermore,co-culturing with frozen-thawed PRP significantly promoted cell migration and enhanced vascular formation efficiency,surpassing the effects of fresh PRP and being comparable to activated PRP(P＜0.01).Cell viability assays and CCK-8 proliferation experiments also showed a significant in-crease in the proliferation rates of L929 and HUVEC co-cultured with frozen-thawed PRP(P＜0.01).Conclusion After being cryopreserved at-80 ℃,PRP has been proven to significantly enhance cell migration,differentia-tion,and proliferation capabilities,while inhibiting the production of inflammatory factors and promoting M2 polari-zation of macrophages.Therefore,low-temperature cryopreservation can be considered as an effective method for PRP preservation.

Objective: To prepare an adhesive hemostatic hydrogel and examine its hemostatic performance and biocompatibility． Methods: The precursor components were homogenously dissolved and photo-crosslinked in order to form dual-network hydrogel．The electron microscopy morphology was then analyzed ; mechanical properties were tested ; in vitro hemostatic performances were investigated by whole blood clotting test and simulation trial of cutaneous bleeding．Further，the hemocompatibility was evaluated. Results: A characteristic porous network structure was presented through microscopy observation of the sample．The tensile strength of hydrogel reached 46 kPa，and strong adhesion was achieved between the hydrogel and ex vivo biological tissues．Hydrogel had significant effect on wound closure and clotting time could be shortened to 1 minute． Conclusion The hydrogel was capable of accelerating coagulation due to its ability to accumulate platelets and red cells after blood contact．The dual-network hydrogel with good hemocompatibility enabled excellent hemostatic performance by the synergistic effects of the chemical activation mechanism and physical hemostatic effect.

Objective:This work aims to evaluate the clinical values of comprehensive genomic profiling examination based on circulating tumor DNA (ctDNA) in advanced lung cancer patients.Methods:This is a single-center, retrospective study that collected peripheral blood samples from patients with advanced lung cancer and performed gene mutation analysis using the TruSight Oncology 500 ctDNA assay kits. Between February 2022 and March 2023, a total of 82 patients were enrolled in Zhongshan Hospital, Fudan University, and 76 patients were included in the final analysis.According to the AMP/ASCO/CAP guidelines, mutations of targeted genes were divided into four levels (Tier I-IV), and the effectiveness of targeted therapy guided by ctDNA was evaluated. Descriptive statistics were used for basic characteristics, and the analysis of factors related to tumor mutational burden (TMB) was performed using the rank-sum test.Results:The ctDNA detection success rate was 92.7%(76/82).The median turnaround time for ctDNA testing was 10.5 days (9,13 days). At least one actionable mutation (Tier I or Ⅱ) was detected in 82.9%(63/76) of patients, and 28.6% (18/63) of patients received matched therapy, achieving a disease control rate of 18/18 and an objective response rate of 12/18.Conclusion:Comprehensive genomic profiling based on ctDNA can effectively identify actionable alterations in patients with advanced lung cancer and provide valuable information for matched therapy.

Objective:To explore the risk stratification and prognostic significance of loss of chromosome Y (LOY) in patients with multiple myeloma (MM).Methods:The clinical data of 193 male patients with newly diagnosed MM admitted to Zhongshan Hospital of Fudan University from January 2018 to January 2020 were analyzed retrospectively and divided into a normal karyotype group(178) and a LOY karyotype group (15) according to the results of their primary conventional cytogenetics. Rank sum test, 2×2 chi-square test and independent sample t-test were used to compare laboratory findings, such as liver and kidney function, immunohistochemistry and cytogenetics, treatment efficacy and survival prognosis, between the two groups. The clinical prognostic significance of LOY was summarized through survival analysis and Cox regression. Results:Among the newly diagnosed male MM patients, 8%(15/178) were confirmed with LOY cases. The proportion of patients with Revised International Staging System(R-ISS) stage Ⅲ was significantly higher in the LOY group (8/15) than that in the normal karyotype group (40/178)(χ 2=7.052, P<0.01). A higher proportion of 1q21 amplification also occurred in the LOY group (10/13 vs 77/162)(χ 2=4.159, P<0.05). The proportion of complete response(CR)/stringent complete response(sCR) in the normal karyotype group after the fourth chemotherapy (63/171) was significantly higher than that in the LOY group (1/15)(χ 2=5.564, P<0.05). The proportion of progressive disease (PD) was lower in the normal karyotype group (16/171 vs 4/15) (χ 2=4.306, P<0.05). The 2-year progression-free survival (PFS) of MM patients for the LOY group was significantly shorter compared to that for the normal karyotype group ( Z=?3.201, P<0.01). Univariate survival analysis showed that PFS was significantly shorter in newly diagnosed MM patients with Creatinine(Cr)≥93 μmol/L, β 2-microglobulin (β 2-MG)≥4.0 mg/L, serum free light chain(sFLC)<0.06, bone marrow plasma cells (BMPC)≥30%, R-ISS stage Ⅲ, failure to achieve CR/sCR after the fourth chemotherapy, with LOY, 1q21 amplification, P53 deletion and t(4;14) ( P<0.05). Cox regression analysis showed that Cr≥93 μmol/L( HR=4.460, 95% CI 1.615-12.314, P=0.004), sFLC<0.06( HR=2.873, 95% CI 1.206-6.849, P=0.017), failure to achieve CR/sCR after the fourth chemotherapy( HR=3.522, 95% CI 1.437-8.634, P=0.006)and with LOY( HR=3.485, 95% CI 1.473-8.249, P=0.006)were independent risk factors for PFS in newly diagnosed MM patients. Conclusions:LOY is an independent risk factor for poor prognosis. It is important for the clinical outcome and prognosis of patients with newly diagnosed MM, and may become a novel clinical assessment indicator.

Parkinson′s disease (PD) is a complex neurodegenerative disorder typically known for characteristic loss of dopaminergic neurons in the substantia nigra striatum. To date, therapeutic approaches for PD are still lacking due to the multifactorial etiology and complicated pathogenesis. Thus, the studies relative to the biological mechanisms and drug development of PD are the hotspot in this field. In recent years, numerous studies suggest that the PD is associated with mitochondrial dysfunction which is affected by multiple genes regulation. Genome-wide association studies have proved that monogenic PD gene locus is associated with mitochondrial dysfunction. Although there are many studies on how PD pathogenic genes regulate mitochondrial dysfunction then affect neuronal physiological function and ultimately lead to the PD, the effects of mutations in PD-associated genes on mitochondrial dysfunction remain not fully understood. In this review, the literature discussing the mechanisms of mitochondrial dysfunction in the context of PD was summarized with the aim to implicate the potential opportunities for therapeutically targeting mitochondria.