Autosomal dominant polycystic kidney disease （ADPKD） is a systemic hereditary renal disorder and can affect multiple organs， and congenital hepatic fibrosis is one of the manifestations of liver involvement and is an important complication of ADPKD. Symptomatic management is currently the main treatment method for this disease， and disease-specific drugs such as tolvaptan have limited indications and cannot correct the underlying genetic defect. This article reports a case of ADPKD with congenital hepatic fibrosis， and sirolimus was identified as the individualized treatment regimen based on peripheral blood functional genomic analysis and drug sensitivity prediction platform. The patient achieved significant improvements in symptoms and quality of life after treatment， with a stable kidney volume. This case shows that functional genomics has a potential value in guiding individualized treatment of rare genetic disorders， which provides new treatment ideas and practice paths for similar patients.

Objective:To construct a preoperative prehabilitation program for prostate cancer based on evidence-based and Delphi method, so as to provide theoretical basis for medical staff to carry out preoperative prehabilitation research for prostate cancer patients.Methods:From June 2023 to March 2024, the first draft of the prehabilitation plan for prostate cancer before surgery was formed through evidence summary, semi-structured interviews and expert meetings. The experts in related fields were selected for two rounds of Delphi expert consultation. The items were revised according to the expert consultation opinions to establish the final plan.Results:Totally 16 experts were included, aged (43.19 ± 7.57) years. Five were males and 11 were females. The response rates of the two rounds of expert consultation were both 16/16, and the authority coefficients of the two rounds expert consultation were both 0.85. The Kendall coordination coefficients of the importance and feasibility of the items in the second round of consultation were 0.213 and 0.224, both P<0.05. In the second round of consultation, the value of importance assignment of items at all levels was 4.19-4.94 points, and the full score rate was 43.75%-93.75%. The final scheme included 5 first-level items, 13 second-level items, and 34 third-level items. Conclusions:The preoperative prehabilitation program for prostate cancer is scientific, importanceand applicable, which provides a theoretical basis for clinical preoperative prehabilitation for prostate cancer patients.

Objective:To develop a treatment-related quality of life scale for Chinese patients with multiple myeloma (MM) and to test its reliability and validity.Methods:The initial scale was constructed through a literature search, Delphi expert correspondence, and cognitive testing. This study conducted a preliminary survey of 379 patients with MM and a formal survey of 865 patients from the hematology departments of 155 hospitals nationwide from February 2024 to March 2024. The final scale was obtained after conducting item analysis and reliability and validity tests on the initial scale.Results:The constructed scale contains 36 items covering six domains: physiological, psychological, social, treatment side effects, general health, and others. In the preliminary survey, the Cronbach’s alpha coefficient of each item ranged from 0.597 to 0.939, and the test-retest reliability was 0.747 ( P<0.001). Exploratory factor analysis extracted eight common factors with a cumulative variance contribution of 60.058%. In the formal survey, the Cronbach’s alpha coefficient of each item ranged from 0.484 to 0.930, and the test-retest reliability was 0.835 ( P<0.001). Confirmatory factor analysis revealed a comparative fit index of 0.750, a root-mean-square error of approximation of 0.090, and a root-mean-square residual of 0.067. Conclusion:The treatment-related quality of life scale for Chinese patients with MM designed in this study exhibited good reliability and validity, reflecting the impact of treatment on the quality of life of patients. This scale can provide a reference to clinicians for assessing the disease status of patients.

Objective:To investigate the clinicopathological characteristics, immunophenotypes, diagnostic criteria and differential diagnosis of atrophic kidney-like lesion (AKLL).Methods:Three cases of AKLL were collected from April 2021 to October 2023 at the Xiangya Hospital of Central South University, Changsha, Zhejiang Provincial People′s Hospital, Hangzhou and Ningbo Clinical Pathology Diagnosis Center, Ningbo, China. The clinical, morphological, and immunohistochemical characteristics were analyzed. Relevant literature was also reviewed. A targeted DNA-based next-generation sequencing (a panel of 150 genes) was performed on one of the three cases.Results:There were 1 female and 2 males, aged 30, 57, and 17 years (mean 34.6 years), respectively. The lesions were all incidentally identified during physical or imaging examination. Radiologically, they were all presented as a unilateral renal parenchymal mass. Grossly, the maximum diameters of the lesions were 1.8, 4.0, and 6.5 cm (mean 4.1 cm), respectively. The tumor cut-surfaces were sponge-like, multilocular cystic, and solid, respectively. At low magnification, the lesions were well-circumscribed, while a thick fibromuscular capsule was noted in cases 1 and 3. Cases 1 and 2 were composed of thin-walled cysts or follicular like structures of varying sizes, with the cyst wall lined by flattened and atrophic, or hobnail cells. The luminal spaces contained dense eosinophilic secretion and associated calcifications, while some cysts contained discohesive cells floating in the eosinophilic material. The tissue between the cysts showed predominantly small atrophic tubular structures. Case 3 was almost entirely composed of atrophic and collapsed tubular structures with focal cyst formation, imparting a solid sheets growth pattern under low magnification. Immunohistochemical staining revealed that the cyst lining cells and the intracystic floating cells were WT1 positive, PAX8 negative and CK7 negative, while the atrophic renal tubules were WT negative, PAX8 positive and CK7 positive. Targeted next-generation sequencing in case 1 showed no significant genetic abnormalities. All 3 patients underwent partial nephrectomy. No evidence of recurrence or metastasis was found with a follow-up of 17 to 36 months.Conclusions:AKLL is a rare and novel benign renal disease. It is easily misdiagnosed as a renal neoplasm grossly and histologically. Careful morphological observation combined with characteristic immunophenotypes can aid in its diagnosis and differential diagnosis.

Objective:To develop a method of employing flow cytometry to directly detect the γ-H2AX expression levels in peripheral blood lymphocytes of mice through fixation and lysis and to evaluate the feasibility of applying this method to research on the radiation-related biological effects and the efficacy evaluation of radioprotective drugs.Methods:A total of 41 male C57BL/6J mice were used. First, 21 mice were randomly divided into 7 groups according to different radiation doses (0, 1, 2, 4, 6, 8, and 10 Gy) with 3 mice in each group. Blood samples were collected from the tail vein of mice at 1, 4, 8, and 24 h after irradiation and immediately fixed with formaldehyde. Red blood cells (RBC) were lysed with Triton X-100, and γ-H2AX was labeled with specific antibodies. DRAQ5 dye was used to further exclude debris and anucleate cells. The mean fluorescence intensity of γ-H2AX in lymphocyte populations was directly analyzed by flow cytometry through forward and side scatter, and dose-effect curves after irradiation were established. Then, the other 20 mice were divided into radiation alone groups and radiation combined with WR-2721 administration groups at 4 and 6 Gy, respectively, with 5 mice in each group. Blood samples were collected from the tail vein of mice at 1, 4, 8, and 24 h after irradiation to detect the average fluorescence intensity of γ-H2AX in lymphocytes, which was used to evaluate the degree of DNA damage in mice and the therapeutic effect of WR-2721.Results:The expression of γ-H2AX in peripheral blood lymphocytes of mice significantly increased with the increase of radiation doses, and reached a peak at 1-2 h and then decreased. The dose-effect relationship was significant ( R2 = 0.9914). At 24 h after 4 and 6 Gy irradiation, compared with the radiation alone groups, the average fluorescence intensity of γ-H2AX in the radiation combined with WR-2721 administration groups was lower (144.8 ± 8.0 and 109.5 ± 9.7, vs. 178.0 ± 18.5 and 136.6 ± 5.4), with statistically significant difference ( t = 3.78, 5.48, P < 0.05). The average fluorescence intensity of γ-H2AX at 24 h after irradiation was consistent with the lowest values of the three blood cell lines at 7 or 14 d after irradiation. Conclusions:The application of flow cytometry with a fixation/dissolution protocol to directly detect the mean fluorescence intensity of γ-H2AX in peripheral blood lymphocytes of mice has significant application value in radiation biology effect research, radiation protection drug screening, and efficacy evaluation.

Objective To explore the barriers of implementing collaborative chronic wound management within medical consortium and provide references for ensuring continuous care for chronic wound patients.Methods Using purposive and snowball sampling methods,14 specialist nurses participating in chronic wound collaborative management across medical consortium in 7 provinces/municipalities(Beijing,Shanghai,Zhejiang,Sichuan,etc.)were selected for semi-structured interviews between December 2023 and January 2024.Data were analyzed via content analysis.Results Totally 4 themes and 8 subthemes were identified,including management and organizational level(the management system needs improvement;the function of medical information mutual recognition has not been fully realized),resource and technology level(there are insufficient nursing resources at the grassroots hospitals;the specialized nursing capabilities of wound nurses at grassroots hospitals need to be enhanced),patient and demand level(patients' trust is insufficient;patients' concepts are rigid),information technology and support level(the informatization construction of grassroots hospitals lags behind;the intelligence of information systems is insufficient).Conclusion Wound specialist nurses encounter various difficulties when participating in the coordinated management of chronic wounds within the medical consortium.The management and organizational system constraints hinder the effectiveness of the nursing coordination;the resource and technology gap affects the implementation of graded wound care in the region;the lack of patient trust and misconceptions intensify the resistance to coordination;the lagging in information technology construction limits the innovative development of nursing coordination.

Objective The aim is to understand the common scenarios of non-medical use of prescription opioids(NMUPO)and analyze the potential facilitating and hindering factors in the regulatory process of NMUPO from the perspective of healthcare professionals.Methods Healthcare professionals in local hospitals were surveyed through a two-stage purposive sampling from June to August 2022 in Ningbo,China.The survey was conducted using a semi-structured questionnaire on topics,and thematic analysis were used to identify and summarise key themes and patterns.Results A total of 75 participants were included,the average age was(43.9±7.2)years,and 54(72.0%)were male.The most common NMUPO scenarios involved middle-aged males pretending acute severe pain to obtain injectable opioids.The facilitating and hindering factors related to the regulation of NMUPO can be categorized into three types:institutional governance,technical support,and individual behaviors.At the institutional level,facilitating factors included strict national prescribing policies and local"narcotic drug card"systems,while barriers comprised incomplete lists of controlled substances.At the technological support level,facilitating factors included the establishment of regional health information platforms,while barriers included the lack of standardized prescription guidelines and diagnostic decision-support tools.At the individual level,facilitating factors included the public's cautious attitude toward drug misuse,while barriers included strained doctor-patient relationships.Conclusion China still faces significant challenges in addressing NMUPO and urgently needs to improve the existing regulatory system.It is recommended that reforms be carried out in areas such as pharmaceutical control mechanisms,drug treatment and rehabilitation services,preventive health education activities,and the optimized use of health information systems.

Objective To evaluate the application of high-resolution magnetic resonance vessel wall imaging(HRMR-VWI)in identifying high-risk features of intracranial atherosclerotic plaques,and to analyze the correlation between plaque characteristics and stroke recurrence under varying degrees of stenosis.Methods The data from 368 patients with intracranial atherosclerotic stenosis(ICAS)across two centers were retrospectively analyzed.Based on the degree of stenosis,all patients were categorized into mild-to-moderate stenosis group(luminal stenosis<70%,n=155)and severe stenosis group(luminal stenosis≥70%,n=213).HRMR-VWI images and clinical information of the patients were collected and analyzed,and the culprit plaques were quantitatively analyzed.Univariate and multivariate logistic regression analyses were employed to identify the risk factors for stroke recurrence,and the predictive performance was evaluated using the area under the curve(AUC)of the receiver operating characteristic(ROC)curve.Results Higher normalized wall index(NWI)[odds ratio(OR)=1.082,95%confidence interval(CI)1.050-1.118,P<0.05]and the presence of intraplaque hemorrhage(IPH)(OR=1.843,95%CI 1.120-3.036,P<0.05)were risk factors for stroke recurrence in all patients.And these two factors were also significant in the mild-to-moderate stenosis group(NWI:OR=1.088,95%CI 1.009-1.186,P<0.05;IPH:OR=4.049,95%CI 1.227-16.065,P<0.05).A predictive model for stroke recurrence was constructed using the combination of IPH and NWI,with the best performance in the mild-to-moderate stenosis group(AUC=0.813,95%CI 0.723-0.906).Conclusion In patients with luminal stenosis<70%,the increase of NWI and the presence of IPH have been validated as significant and effective indicators for predicting stroke recurrence,demonstrating notable predictive performance.In contrast,among patients with luminal stenosis≥70%,the utility of plaque characteristics in predicting stroke recurrence is relatively lower,indicating that the correlation between plaque characteristics and stroke recurrence varies across different degrees of stenosis.

OBJECTIVES: To investigate the ethnic origin of Chuanqing people, one of the largest unidentified ethnic groups in Guizhou, China, and analyze its genetic relationships with surrounding populations. METHODS: Based on a self-developed microhaplotype system, we conducted genotyping and analyzed the genetic distribution of microhaplotype loci and their forensic applicability in Chuanqing population in Guizhou Province. Using the microhaplotype data from different intercontinental populations and previously reported data from Han population living in Guizhou Province, we systematically investigated the genetic background of Chuanqing people through population genetic approaches, including genetic distance estimation, principal component analysis, and phylogenetic tree construction. RESULTS: Among the studied population, the number of haplotype per microhaplotype ranged from 6 to 25. The average expected heterozygosity (He), observed heterozygosity (Ho), power of discrimination (PD), and probability of exclusion (PE) were 0.8291, 0.8301, 0.9387, and 0.6593, respectively. The cumulative power of discrimination (CPD) and cumulative probability of exclusion (CPE) for these 33 loci were 1-2.62×10^-41 and 1-7.64×10^-17, respectively. Population genetic analyses revealed that the Chuanqing population had close genetic relationships with the East Asian populations, especially the local Guizhou Han population, Beijing Han population and the Han populations living in southern China. CONCLUSIONS The 33 microhaplotypes exhibit high levels of genetic diversity in the Guizhou Chuanqing population, highlighting their potentials for both forensic identification and parentage testing. The Han populations might have contributed a significant amount of genetic material to the Chuanqing population during the formation and development of the latter.
Humans ; China/ethnology* ; Ethnicity/genetics* ; Forensic Genetics/methods* ; Genetics, Population ; Genotype ; Haplotypes ; Phylogeny ; East Asian People/genetics*

Objective To study the technological innovation efficiency of the pharmaceutical manufacturing industry and its relationship with industrial development.Methods The data from the China Statistical Yearbook,China High Tech Statistical Yearbook,the statistical yearbook data of regional statistical bureaus was collected to evaluate the technological innovation efficiency of the pharmaceutical manufacturing industry in 29 provinces and cities in China based on the super-efficiency three-stage SBM model.And then,the spatial econometric model and panel quantile regression model were used to conduct empirical research.Results The average technological innovation efficiency of the pharmaceutical manufacturing industry in 29 provinces was 0.49,with the east greater than the central region,and the central region greater than the west.The technological innovation efficiency of pharmaceutical manufacturing industry has a significant positive correlation with its industrial development,and the marginal effect of this effect shows a law of diminishing in regions with low to high development level,and there is a significant positive spatial spillover effect of pharmaceutical manufacturing industry development between regions.Conclusions The central and western provinces,which have relatively weak pharmaceutical manufacturing industries,should improve the innovation environment and talent supply to enhance the efficiency of technological innovation.Concerted efforts should be made to vigorously promote exchanges,connections,and cooperation between regions with strong technological innovation efficiency and their surrounding areas.And it is imperative to encourage top domestic pharmaceutical companies to significantly increase their investment in the research and development of innovative drugs and to actively engage in international competition.