Based on the practical experience of the Human Sperm Bank, Obstetrics and Gynecology Hospital, Fudan University, this paper explores the necessity, core content, process, and common challenges of genetic counseling for sperm donors, while proposing optimization strategies. Genetic counseling for sperm donors employs methods such as family history investigation, karyotype analysis, high-throughput gene sequencing, and genetic matching to effectively identify and mitigate hereditary risks in donor-conceived offspring, thereby enhancing the scientific rigor and operability of sperm bank quality control systems. Addressing challenges such as donor acceptance, technological limitations, the complexity of genetic matching, ethical issues and privacy protection, and long-term health monitoring, this paper suggests strategies including optimizing genetic screening protocols, establishing intelligent genetic matching systems, strengthening privacy protection mechanisms, and improving long-term health management. The aim of this paper is to provide a scientific and practical reference for professionals to optimize genetic counseling management in sperm banks, ensuring sperm donor quality and the safety of assisted reproduction.

Objective:To investigate the therapeutic effects of adeno-associated virus vector 5 (AAV5)-mediated hepatic lipoprotein lipase (LPL) expression on serum triglyceride (TG) metabolism and hypertriglyceridemic acute pancreatitis (HTG-AP) in mice.Methods:Ten male C57BL/6 Lpl+/- mice were randomly divided into two groups by a random number table: the Lpl+/- control group and the Lpl+/- gene therapy group, with five mice in each group. The Lpl+/- control group received a tail vein injection of AAV5 vector carrying the enhanced green fluorescent protein (EGFP) gene (AAV5-EGFP), while the Lpl+/- gene therapy group received a tail vein injection of AAV5 vector carrying the human LPLS447X gene (AAV5-LPLS447X). Oral fat tolerance tests were performed at 14, 28, and 56 days post-injection. Twenty wild-type ICR mice were randomly divided into a control group and a gene therapy group, with ten mice in each group. The ICR control group was injected with AAV5-EGFP, and the ICR gene therapy group was injected with AAV5-LPLS447X. Fourteen days after injection, the mice underwent intraperitoneal injection of P407 solution (0.5 g/kg) and caerulein (200 μg/kg) to induce HTG-AP. Serum TG, total cholesterol (TC), amylase, lipase levels, and plasma LPL activity after heparin injection were measured by microplate reader. Plasma LPL concentration was measured using an enzyme-linked immunosorbent assay (ELISA). LPL mRNA expression levels in the liver, heart, and adipose tissue of Lpl+/- mice were determined by quantitative reverse-transcription polymerase chain reaction (qRT-PCR). LPL protein expression in the liver tissue of ICR mice was detected by immunohistochemistry at 28 days after gene therapy. Histopathological changes in the pancreas were observed using hematoxylin-eosin staining. Results:Compared to the Lpl+/- control group, the Lpl+/- gene therapy group showed a significant decrease in serum TG levels starting from day 21. After oral administration of olive oil, the increase and peak of serum TG levels were significantly lower than those in the control group. Furthermore, hepatic LPL mRNA expression levels were significantly higher (1.96±0.11 vs 1.02±0.12) with statistical significance ( P<0.05). Compared to the ICR control group, the ICR gene therapy group showed a significant decrease in serum TG and TC levels, and plasma LPL activity (0.17±0.05 mEq/L·h -1vs 0.06±0.02 mEq/L·h -1) was significantly higher at 28 days after heparin injection with statistical significance (all P value <0.05). Immunohistochemical results showed high expression of LPL protein on the hepatocyte membrane in the liver of ICR gene therapy group mice. Moreover, pancreatic edema, inflammatory infiltration, and acinar cell necrosis were significantly alleviated compared to the control group. Conclusions:LPLS447X treatment can promote LPL expression in the liver of mice, significantly reduce TG levels, and alleviate the severity of HTG-AP.

OBJECTIVES: To investigate the effects of quercetin on cuproptosis and L-type calcium currents in the myocardium of diabetic rats. METHODS: Forty SD rats were randomized into control group and diabetic model groups. The rat models of diabetes mellitus (DM) induced by high-fat and high-sugar diet combined with streptozotocin (STZ) injection were further divided into DM model group, quercetin treatment group, and empagliflozin treatment group (n=10). Blood glucose and body weight were measured every other week, and cardiac function of the rats was evaluated using echocardiography. HE staining, Sirius red staining, and wheat germ agglutinin (WGA) analysis were used to observe the changes in myocardial histomorphology, and serum copper levels and myocardial FDX1 expression were detected. In cultured rat cardiomyocyte H9c2 cells with high-glucose exposure, the effects of quercetin and elesclomol, alone or in combination, on intracellular CK-MB and LDH levels and FDX1 expression were assessed, and the changes in L-type calcium currents were analyzed using patch-clamp technique. RESULTS: The diabetic rats exhibited elevated blood glucose, reduced body weight, impaired left ventricular function, increased serum copper levels and myocardial FDX1 expression, decreased L-type calcium currents, and prolonged action potential duration. Quercetin and empagliflozin treatment significantly lowered blood glucose, improved body weight, and restored cardiac function of the diabetic rats, and compared with empagliflozin, quercetin more effectively reduced serum copper levels, downregulated FDX1 expression, and enhanced myocardial L-type calcium currents in diabetic rats. In H9c2 cells, high glucose exposure significantly increased myocardial expressions of FDX1, CK-MB and LDH, which were effectively lowered by quercetin treatment; Elesclomol further elevated FDX1, CK-MB and LDH levels in the exposed cells, and these changes were not significantly affected by the application of quercetin. CONCLUSIONS Quercetin ameliorates myocardial injury in diabetic rats possibly by suppressing myocardial cuproptosis signaling and restoring L-type calcium channel activity.
Animals ; Quercetin/pharmacology* ; Calcium Channels, L-Type/metabolism* ; Diabetes Mellitus, Experimental/metabolism* ; Rats, Sprague-Dawley ; Rats ; Myocytes, Cardiac/drug effects* ; Myocardium/pathology* ; Male

Tongue squamous cell carcinoma (TSCC) is a prevalent malignancy that afflicts the head and neck area and presents a high incidence of metastasis and invasion. Accurate diagnosis and effective treatment are essential for enhancing the quality of life and the survival rates of TSCC patients. The current treatment modalities for TSCC frequently suffer from a lack of specificity and efficacy. Nanoparticles with diagnostic and photothermal therapeutic properties may offer a new approach for the targeted therapy of TSCC. However, inadequate accumulation of photosensitizers at the tumor site diminishes the efficacy of photothermal therapy (PTT). This study modified gold nanodots (AuNDs) with the TSCC-targeting peptide HN-1 to improve the selectivity and therapeutic effects of PTT. The Au-HN-1 nanosystem effectively targeted the TSCC cells and was rapidly delivered to the tumor tissues compared to the AuNDs. The enhanced accumulation of photosensitizing agents at tumor sites achieved significant PTT effects in a mouse model of TSCC. Moreover, owing to its stable long-term fluorescence and high X-ray attenuation coefficient, the Au-HN-1 nanosystem can be used for fluorescence and computed tomography imaging of TSCC, rendering it useful for early tumor detection and accurate delineation of surgical margins. In conclusion, Au-HN-1 represents a promising nanomedicine for imaging-based diagnosis and targeted PTT of TSCC.
Tongue Neoplasms/diagnostic imaging* ; Carcinoma, Squamous Cell/diagnostic imaging* ; Animals ; Gold/chemistry* ; Mice ; Photothermal Therapy/methods* ; Tomography, X-Ray Computed ; Photosensitizing Agents ; Metal Nanoparticles ; Humans ; Cell Line, Tumor

Based on the practical experience of the Human Sperm Bank, Obstetrics and Gynecology Hospital, Fudan University, this paper explores the necessity, core content, process, and common challenges of genetic counseling for sperm donors, while proposing optimization strategies. Genetic counseling for sperm donors employs methods such as family history investigation, karyotype analysis, high-throughput gene sequencing, and genetic matching to effectively identify and mitigate hereditary risks in donor-conceived offspring, thereby enhancing the scientific rigor and operability of sperm bank quality control systems. Addressing challenges such as donor acceptance, technological limitations, the complexity of genetic matching, ethical issues and privacy protection, and long-term health monitoring, this paper suggests strategies including optimizing genetic screening protocols, establishing intelligent genetic matching systems, strengthening privacy protection mechanisms, and improving long-term health management. The aim of this paper is to provide a scientific and practical reference for professionals to optimize genetic counseling management in sperm banks, ensuring sperm donor quality and the safety of assisted reproduction.

Objectives:To investigate the relationship between locations of ventricular septal perforation and 30-day prognosis in patients with acute myocardial infarction complicated by ventricular septal perforation.Methods:Clinical data of 150 acute myocardial infarction patients with ventricular septal perforation admitted to Fuwai Hospital of Chinese Academy of Medical Sciences and People's Hospital of Xinjiang Uygur Autonomous Region from January 2009 to October 2023 were retrospectively analyzed.Kaplan-Meier method was used to compare the difference in 30-day survival rate among patients with different sites of ventricular septal perforation.The impact of locations of ventricular septal perforation on 30-day prognosis of acute myocardial infarction patients was evaluated by multivariate Cox regression analysis(forward stepwise).Results:In acute myocardial infarction patients,the occurrence of anterior ventricular septal perforation was higher than that of posterior ventricular septal perforation(79.5%vs.20.5%,P<0.001).In the anterior ventricular septal perforation patients,females were more common(50.0%vs.22.6%,P=0.006),the blood glucose level was higher([10.51±5.99]mmol/L vs.[8.02±2.81]mmol/L,P=0.026),the left ventricular end-diastolic diameter was smaller([50.7±6.1]mm vs.[55.1±5.0]mm,P<0.001),the ventricular septal aperture was also smaller([9.8±4.6]mm vs.[12.6±5.4]mm,P=0.004),30-day mortality was higher(55.8%vs.35.5%,P=0.043)compared with posterior ventricular septal perforation patients.Multivariate Cox regression analysis(forward stepwise)showed that no transthoracic surgery or transcatheter closure(HR=26.344,95%CI:8.261-84.009,P<0.001)and anterior ventricular septal perforation(HR=2.432,95%CI:1.281-4.619,P=0.007)were associated with increased risk of 30-day all-cause mortality in patients with acute myocardial infarction complicated by ventricular septal perforation.Conclusions:In patients with acute myocardial infarction complicated by ventricular septal perforation,the incidence of anterior ventricular septal perforation is higher than posterior ventricular septal perforation and the 30-day all-cause mortality of anterior ventricular septal perforation patients is also higher.No transthoracic surgery or transcatheter closure and anterior ventricular septal perforation are the independent influential factors of 30-day all-cause mortality in patients with acute myocardial infarction and ventricular septal perforation.

Objective To analyze and summarize the MRI findings and clinical features of focal periphyseal edema(FOPE)in adolescents.Methods A retrospective analysis was conducted on the MRI and clinical data from 25 patients(29 knee joints)diagnosed with FOPE.All patients had no history of trauma.The MRI imaging features were analyzed by two senior musculoskeletal radiologists,and the diagnostic value and clinical significance of MRI were summarized.Results In 25 patients,34 lesions were found in 29 knee joints,including 20 in the femoral periphyseal plate region and 14 in the tibial periphyseal plate region.30 lesions were located in the central 2/3 area of the periphyseal plate and 4 were located in the peripheral 1/3 area of the periphyseal plate.On MRI,the lesions appeared as patchy areas of low signal on T1WI and high signal on fat suppression proton density weighted imaging(PDWI),extending from the periphyseal plate to the epiphysis and metaphyseal side with ill-defined borders.The longitudinal diameter of the lesions ranged from 0.4-1.7 cm,and the transverse diameter ranged from 0.3-1.7 cm.Apart from the FOPE,no other abnormal positive findings were observed on MRI of the knee joints in all patients.Conclusion FOPE in adolescents exhibits characteristic MRI findings,which may be related to closure of the periphyseal plate and knee joint pain in adolescents.

Background::B-cell maturation antigen (BCMA)-directed chimeric antigen receptor T (CAR-T) therapy yield remarkable responses in patients with relapsed/refractory multiple myeloma (R/RMM). Circulating tumor DNA (ctDNA) reportedly exhibits distinct advantages in addressing the challenges posed by tumor heterogeneity in the distribution and genetic variations in R/RMM.Methods::Herein, the ctDNA of 108 peripheral blood plasma samples from patients with R/RMM at the First Affiliated Hospital, School of Medicine, Zhejiang University was thoroughly investigated before administration of anti-BCMA CAR-T therapy to establish its predictive potential. Flow cytometry is used primarily to detect subgroups of T cells or CAR-T cells.Results::In this study, several tumor and T cell effector-mediated factors were considered to be related to treatment failure by an integrat analysis, including higher percentages of multiple myeloma (MM) cells in the bone marrow ( P = 0.0125), lower percentages of CAR-T cells in the peripheral blood at peak ( P = 0.0375), and higher percentages of CD8 + T cells ( P = 0.0340). Furthermore, there is a substantial correlation between high ctDNA level (>143 ng/mL) and shorter progression-free survival (PFS) ( P = 0.007). Multivariate Cox regression analysis showed that high levels of ctDNA (>143 ng/mL), MM-driven high-risk mutations (including IGLL5 [ P = 0.004], IRF4 [ P = 0.024], and CREBBP [ P = 0.041]), number of multisite mutations, and resistance-related mutation ( ERBB4, P = 0.040) were independent risk factors for PFS. Conclusion::Finally, a ctDNA-based risk model was built based on the above independent risk factors, which serves as an adjunct non-invasive measure of substantial tumor burden and a prognostic genetic feature that can assist in predicting the response to anti-BCMA CAR-T therapy.

Objective:To investigate the measurement differences between mainstream and sidestream partial pressure of end tidal carbon dioxide(PetCO2)monitoring techniques in mechanically ventilated patients,as well as the correlation with partial pressure of arterial blood carbon dioxide(PaCO2)and clinical applicability,and to provide a basis for the rational selection of monitoring methods in the clinic.Methods:A total of 169 patients who underwent invasive mechanical ventilation in the operating room of the First Affiliated Hospital of Bengbu Medical University from August to November 2024 were selected to be monitored by three monitoring techniques of mainstream PetCO2,sidestream PetCO2 and PaCO2,respectively,and the 243 sets of valid pairwise data monitored by the three monitoring techniques were recorded,analyzed for correlation and deviation,and performed PaCO2 and PetCO2 were stratified and analyzed.Likert scales were used to analyze the subjective ratings of the 3 monitoring techniques of mainstream PetCO2,sidestream PetCO2,and PaCO2 by the 31 health care professionals who used the study.Results:Both mainstream and sidestream PetCO2 correlated with PaCO2(r=0.554,0.515,P<0.05),and mainstream PetCO2 correlated better than sidestream;mainstream PetCO2 was lower than the concurrent PaCO2 by 6.00 mmHg,and the 95%limit of agreement(95%LoA)was±6.28 mmHg,both lower than that of sidestream by 8.24 mmHg and±7.41 mmHg.8.24 mmHg and±7.41 mmHg.The dispersion of sidestream PetCO2 monitoring values was greater,especially at high PaCO2 levels.Mainstream method PetCO2 had the highest correlation with PaCO2 in gynecologic patients(r=0.820,P<0.05),and sidestream method PetCO2 underestimated PaCO2 more markedly in gastrointestinal and hepato-biliary-pancreatic surgery patients.The deviation of oxygenation index≤300 mmHg was significantly greater than that of patients with oxygenation index>300 mmHg,and the tendency of underestimation was more significant at high PaCO2.31 healthcare experts evaluated that the mainstream PetCO2 monitoring method was outstanding in terms of accuracy and real-time,and that the sidestream method of PetCO2 monitoring was advantageous in terms of ease of operation and management of consumables.Conclusion:In patients who receive mechanical ventilation,the precision,accuracy and real-time of mainstream PetCO2 monitoring are better,which is suitable for patients with rapid changes in disease condition or patients at risk of hypercapnia.The sidestream method is suitable for non-intubated or transported patients,but it is easy to be underestimated at high PaCO2,and it needs to be corrected regularly in combination with arterial blood gas.The clinical application should rationally choose monitoring method after a comprehensive assessment based on the patient's disease condition,oxygenation status,and the scenario of use.

Paraplegia caused by spinal cord injury is a serious neurological complication, for which surgery is currently the main treatment method. Due to different surgical approaches, patients are usually expected to maintain a passive prone position for a long time or switch between the supine and prone positions. Affected by multiple factors such as neurogenic sensory disorders, pathological changes in muscle tone and operative duration, the risk of intraoperative acquired pressure injury (IAPI) is significantly increased. Current clinical prevention strategies for IAPI in these patients predominantly focus on localized pressure relief during positioning, lacking systematic, standardized comprehensive prevention protocols or evidence-based guidelines. To address it, Department of Nursing, Orthopedics Branch, China International Exchange and Promotive Association for Medical and Health Care, Spinal Trauma Professional Committee, Orthopedics Branch, Chinese Medical Doctor Association, Nursing Group of Spine and Spinal Cord Professional Committee of Chinese Association of Rehabilitation Medicine organized experts in relevant fields to formulate Guideline for the prevention of intraoperative acquired pressure injury in paraplegic patients with spinal cord injury ( version 2025), based on evidence-based medical evidence and latest research results and clinical practice at home and abroad. Eleven recommendations were put forward from the aspects of preoperative risk assessment, intraoperative prevention strategies, postoperative handover and monitoring, and supportive mechanisms for IAPI prevention, aiming to standardize the prevention measures and management strategies of IAPI in paraplegic patients with spinal cord injury and accelerate the recovery of patients and improve the therapeutic effect.