Objective To explore the clinical features, diagnosis, treatment and prognosis of testicular Ewing sarcoma(ES), so as to enhance the understanding and differential diagnosis of this disease. Methods A retrospective analysis was conducted on the clinical manifestations, auxiliary examinations and pathological findings of a case of left-sided ES treated at our hospital, supplemented by a review of relevant literature. Results A 24-year-old male patient presented with left testicular enlargement with pain. Magnetic resonance imaging suggested a neoplastic lesion, with a high likelihood of testicular germ cell tumor. A radical left orchiectomy was performed. Postoperative pathology revealed testicular ES. The patient subsequently completed 8 cycles of VDC/IE chemotherapy and showed no evidence of recurrence at 10 months of follow-up. Analysis of literature on 5 previously reported cases of testicular ES had testicular enlargement as the primary presentation. All patients underwent surgery and 4 received adjuvant therapy. Follow-up revealed 1 death at 9 months postoperatively, with no recurrence or progression seen in the remainder. Conclusion ES occurring in the testis is extremely rare.Testicular ES is a poorly differentiated small round-cell malignant tumor that primarily presents as testicular enlargement. Current treatment mainly surgical resection combined with adjuvant chemotherapy.

Multiple sclerosis （MS） is a chronic immune-mediated demyelinating disease of the central nervous system. As the resident innate immune cells of the CNS， microglia exert dual regulatory effects throughout the disease course， encompassing both detrimental and reparative functions. Numerous studies have confirmed that microglia exhibit significant heterogeneity across development， aging， and pathological states， and multiple subpopulations have been identified， including proliferative region-associated microglia， disease-associated microglia， interferon-responsive microglia， and microglia inflamed in MS. This review summarizes the current state of microglial heterogeneity research and its implications in MS， with a particular focus on the mechanisms underlying their regulation of neuroinflammation and remyelination. It provides a theoretical reference for precision therapies targeting microglial subpopulations and offers novel insights for the clinical management of MS.

Multiple sclerosis （MS） is a chronic immune-mediated demyelinating disease of the central nervous system. As the resident innate immune cells of the CNS， microglia exert dual regulatory effects throughout the disease course， encompassing both detrimental and reparative functions. Numerous studies have confirmed that microglia exhibit significant heterogeneity across development， aging， and pathological states， and multiple subpopulations have been identified， including proliferative region-associated microglia， disease-associated microglia， interferon-responsive microglia， and microglia inflamed in MS. This review summarizes the current state of microglial heterogeneity research and its implications in MS， with a particular focus on the mechanisms underlying their regulation of neuroinflammation and remyelination. It provides a theoretical reference for precision therapies targeting microglial subpopulations and offers novel insights for the clinical management of MS.

Echinocandin B (ECB) is a key precursor of the antifungal drug anidulafungin. It is a secondary metabolite of Aspergillus nidulans, and its titer in fermentation is significantly affected by the ECB synthesis pathway and cell morphology. In this study, the key genes related to the transcription activation, hydroxylation, and cell morphology during ECB biosynthesis were investigated to increase the fermentation titer of ECB and to change the cell morphology of Aspergillus nidulans to reduce the viscosity of the fermentation broth. The results indicated that after overexpression of ecdB and ecdK, the ECB titer increased by 25.8% and 23.7%, respectively, compared with that of the wild-type strain, reaching (2 030.5±99.2) mg/L and (1 996.4±151.4) mg/L. However, the deletion of fksA associated with cell wall synthesis resulted in damage to the cell wall, affecting strain growth and product synthesis. The engineered strain overexpressing ecdB was fermented in a 50-L bioreactor, in which the ECB titer reached 2 234.5 mg/L. The findings laid a research foundation for the subsequent metabolic engineering of this strain.
Fermentation ; Aspergillus nidulans/genetics* ; Echinocandins/genetics* ; Bioreactors/microbiology* ; Fungal Proteins/biosynthesis* ; Metabolic Engineering

Objective To investigate the clinical efficacy of Qi Shi Shen Shu Capsule combined with dapagliflozin in treating type 2 diabetic nephropathy.Methods 120 patients with type 2 diabetic nephropathy(qi-yin liangxu syndrome)admitted to the endocrinology department in the inpatient and outpatient depart-ments of endocrinology from May 2022 to December 2023 were randomly divided into control and observation groups(60 cases each).The control group received dapagliflozin plus placebo capsules,while the observation group received dapagliflozin plus Qi Shi Shen Shu Capsule for 6 months.The therapeutic effects were observed between the two groups.Parameters including serum creatinine(Scr),urinary albumin-to-creatinine ratio(uACR),24-hour urinary protein quantification(24hUP),glycated hemoglobin(HbA1c),and tumor necrosis factor-α(TNF-α),interleukin-6(IL-6),and high sensitivity-C reactive protein(hs-CRP)were measured be-fore and after treatment.Results The total effective rate was higher(P＜0.05)in the observation group(93.33％)than in the control group(78.33％).After treatment,both groups showed decreased levels of uACR,Scr,24hUP,HbA1c,TNF-α,IL-6,and hs-CRP compared with baseline,with lower levels in the obser-vation group(P＜0.05).Conclusion Qi Shi Shen Shu Capsule combined with dapagliflozin can effectively re-duce uACR,Scr levels and serum inflammatory cytokines levels in patients with type 2 diabetic nephropathy.

OBJECTIVE: To explore the genetic basis of a child with Chanarin-Dorfman syndrome (CDS) manifesting as ichthyosis. METHODS: A child who had presented at Henan Provincial People's Hospital in June 2023 was selected as study subject. Clinical data of the child was collected. Peripheral blood samples were collected from the child and her parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing. Relevant literature was searched in databases using key words "Chanarin-Dorfman syndrome" and "ABHD5 gene". The clinical manifestations and variant sites of previously reported cases were compiled and analyzed for correlations. This study was approved by the Medical Ethics Committee of Henan Provincial People's Hospital [Ethics No.: (2019) Jun Shen No. (134)]. RESULTS: WES revealed that the child has harbored compound heterozygous variants of the ABHD5 gene, namely c.99_103del (p.H34*) in exon 2 and c.770C>G (p.P257R) in exon 5, which were inherited from her father and mother, respectively. Bioinformatic analysis suggested that both variants were pathogenic. Literature review indicated that the affected organs in CDS are ranked from most to least including liver, eyes, ears, nervous system, muscles, spleen, and kidneys. The c.594insC and c.594dupC variants are most common. CONCLUSION The identification of the two novel ABHD5 gene variants has enriched the mutation spectrum of CDS. c.594insC or c.594dupC are hotspot mutations of this disease, albeit with no definitive correlation between the genotype and phenotype.
Humans ; Female ; Ichthyosiform Erythroderma, Congenital/genetics* ; Lipid Metabolism, Inborn Errors/genetics* ; Phenotype ; 1-Acylglycerol-3-Phosphate O-Acyltransferase/genetics* ; Mutation ; Muscular Diseases/genetics* ; Exome Sequencing ; Child ; Male ; Child, Preschool

Objective:The level of discipline construction is an important indicator of a hospital′s comprehensive strength and core competitiveness.Establishing a scientific, reasonable, and effective performance evaluation system for the clinical medicine advantageous disciplines is of particular significance for university affiliated hospitals to strengthen discipline construction, improve governance systems, and promote high-quality development of hospitals.Methods:The Delphi method was used to determine the reliability of the indicator system by measuring the positivity coefficient, authority level, coefficient of variation, and coordination coefficient.Using Analytic Hierarchy Process, judgment matrix was established to determine the corresponding weights of elements, and calculate the total weight coefficients of each indicator, as well the consistency of the judgment matrix was checked.Results:The Cronbach′s coefficient of the questionnaire was 0.945, indicating high reliability.The effective recovery rates of the two rounds of expert consultation were 90.0%and 94.7%.Two rounds′ expert authority coefficients were 0.743 and 0.720.And the Kendall harmony coefficient was 0.196~0.731. The differences mentioned above were statistically significant(all P<0.05).Through two rounds consultation, a performance evaluation system for the clinical medicine advantageous disciplines was constructed, including 8 primary indicators and 24 secondary indicators.The weight coefficients of the primary indicators were 0.126, 0.208, 0.091, 0.162, 0.178, 0.118, 0.068, 0.049, and the total weight coefficients of each indicator were calculated, which showed good logical reliability. Conclusions:The performance evaluation system for the clinical medicine advantageous disciplines has strong scientific validity.It can provide evaluation tools for promoting the rational allocation and efficient utilization of hospital resources.

Transarterial radioembolization (TARE) is a widely utilized therapeutic approach for hepatocellular carcinoma (HCC), however, the clinical implementation is constrained by the stringent preparation conditions of radioembolization agents. Herein, we incorporated the superstable homogeneous iodinated formulation technology (SHIFT), simultaneously utilizing an enhanced solvent form in a carbon dioxide supercritical fluid environment, to encapsulate radionuclides (such as ¹³¹I,¹⁷⁷Lu, or ¹⁸F) with lipiodol for the preparation of radiolipiodol. The resulting radiolipiodol exhibited exceptional stability and ultra-high labeling efficiency (≥99%) and displayed notable intratumoral radionuclide retention and in vivo stability more than 2 weeks following locoregional injection in subcutaneous tumors in mice and orthotopic liver tumors in rats and rabbits. Given these encouraging findings, ¹⁸F was authorized as a radiotracer in radiolipiodol for clinical trials in HCC patients, and showed a favorable tumor accumulation, with a tumor-to-liver uptake ratio of ≥50 and minimal radionuclide leakage, confirming the feasibility of SHIFT for TARE applications. In the context of transforming from preclinical to clinical screening, the preparation of radiolipiodol by SHIFT represents an innovative physical strategy for radionuclide encapsulation. Hence, this work offers a reliable and efficient approach for TARE in HCC, showing considerable promise for clinical application (ChiCTR2400087731).

Objective:To analyze the clinical characteristics of locally advanced rectal cancer patients with pathological complete response (pCR) after neoadjuvant chemoradiotherapy combined with immunotherapy.Methods:The retrospective cohort study was conducted. The clinicopatholo-gical data of 46 patients with locally advanced rectal cancer who were admitted to 6 medical centers, including Beijing Friendship Hospital of Capital Medical University et al, from June 2021 to November 2022 were collected. There were 29 males and 17 females, aged (61±4)years. Patients received neoadjuvant chemoradiotherapy combined with immune checkpoint inhibitor therapy, and under-went radical total mesorectal excision during 6-12 weeks after radiotherapy. Observation indicators: (1) comparison of clinical characteristics between pCR and non-pCR patients;(2) postoperative complications and adverse reactions of pCR and non-pCR patients. Comparison of measurement data with normal distribution between groups was conducted using the t test. Comparison of measurement data with skewed distribution between groups was conducted using the Mann-Whitney U test. Comparison of count data between groups was conducted using the chi-square test or Fisher exact probability. Comparison of ordinal data between groups was conducted using the Mann-Whitney U test. Results:(1) Comparison of clinical characteristics between pCR and non-pCR patients. Before neoadjuvant therapy, there were 14 cases aged ≥50 years and 6 cases aged <50 years in pCR patients, versus 25 cases and 1 case in non-pCR patients, showing a significant difference between the two groups ( P<0.05). After neoadjuvant therapy, cases in clinical stage T0, T1, T2, T3, T4 were 11, 1, 5, 3, 0 for pCR patients versus 7, 4, 2, 11, 2 for non-pCR patients, cases of tumor regression grade 1, 2, 3, 4 were 11, 8, 1, 0 for pCR patients versus 7, 14, 4, 1 for non-pCR patients, cases in low-risk, medium-risk, high-risk of neoadjuvant rectal scoring and grading were 20, 0, 0 for pCR patients versus 4, 18, 4 for non-pCR patients, respectively, showing significant differences in above indicators between the two groups ( Z=-2.256, -2.104, -5.458, P<0.05). (2) Postoperative complications and adverse reactions of pCR and non-pCR patients. Postoperative complications occurred in 2 cases of pCR patients and 5 cases of non-pCR patients, postoperative adverse reactions occurred in 11 cases of pCR patients and 10 cases of non-pCR patients, showing no significant difference between the two groups ( P>0.05). Conclusion:Compared with locally advanced rectal cancer patients aged ≥50 years, those aged <50 years have significant benefits from neoadjuvant chemoradiotherapy combined with immunotherapy. Clinical T staging and magnetic resonance imaging-detected tumor regression grade after neoadjuvant therapy have predictive value for patients with pCR .

Objective:To develop a tool package that meets the routine statistical analysis requirements of population-based cancer registries in China based on R language, with the aim of improving data quality and efficiency, and promoting the nationwide scientific utilization of cancer registry data.Methods:The functional demands for statistical analysis of population-based cancer registry staff were collected through questionnaires or face-to-face interviews. Based on the concept of generic functions in R software's S3 object system, functions were developed by defining specific S3 classes for different data types, allowing the same function to perform diverse tasks depending on the class of input data. A stepwise development strategy was adopted to ensure logical coherence among functional modules, and all functions were systematically tested and validated in accordance with standard R package development guidelines.Results:Six categories of functions, including data reading, data manipulation, data processing, statistical calculation, visualization, and statistical reporting, were developed to support routine statistical analysis of population-based cancer registry data. Data reading functions support reading data formats required by the National Cancer Registry. Data manipulation functions empower conditional filtering of registry data and support regrouping, merging, or transforming the data based on registry attributes (such as urban/rural location) to accommodate different analytical needs. Data processing functions includes age grouping, International Classification of Diseases 10 th Revision (ICD-10) classification, childhood cancer classification, and population estimation. Statistical calculation functions permit the calculation of age-standardized rates, truncated rates, cumulative rates, cumulative risks, life tables, and expansion from abridged to complete life tables. Visualization functions can generate commonly used statistical charts, including population pyramids, bar charts, and line graphs. Statistical reporting functions can integrate key indicators, charts, and narrative descriptions into comprehensive cancer registry reports. Conclusion:An R package named Canregtools was developed based on the concept of S3 generic functions. This package is free of charge, open-source, and highly efficient. It can meet the diversified needs in cancer registry data analysis, visualization, and reporting through standardized data processing workflows, thereby enhancing the quality and efficiency of routine statistical analysis in population-based cancer registries in China.