Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by impaired motility of cilia and flagella. Mutations in cilia- and flagella-associated protein 300 ( CFAP300 ) are associated with human PCD and male infertility; however, the underlying pathogenic mechanisms remain poorly understood. In a consanguineous Chinese family, we identified a homozygous CFAP300 loss-of-function variant (c.304delC) in a proband presenting with classical PCD symptoms and severe sperm abnormalities, including dynein arm deficiency and acrosomal malformation, as confirmed by transmission electron microscopy (TEM). Histological analysis revealed multiple morphological abnormalities of the sperm flagella in CFAP300 -mutant individual, whereas immunofluorescence demonstrated markedly reduced CFAP300 expression in the spermatozoa of the proband. Furthermore, tandem mass tag (TMT)-based quantitative proteomics showed that the CFAP300 mutation reduced key spermatogenesis proteins (e.g., sperm flagellar 2 [SPEF2], solute carrier family 25 member 31 [SLC25A31], and A-kinase anchoring protein 3 [AKAP3]) and mitochondrial ATP synthesis factors (e.g., SLC25A31, cation channel sperm-associated 3 [CATSPER3]). It also triggered abnormal increases in autophagy-related proteins and signaling mediator phosphorylation. These molecular alterations are likely to contribute to progressive deterioration of sperm ultrastructure and function. Notably, successful pregnancy was achieved via intracytoplasmic sperm injection (ICSI) using the proband's sperm. Overall, this study expands the known CFAP300 mutational spectrum and offers novel mechanistic insights into its role in spermatogenesis.
Humans ; Male ; Infertility, Male/pathology* ; Acrosome/pathology* ; Sperm Tail/pathology* ; Pedigree ; Spermatozoa ; Adult ; Loss of Function Mutation ; Ciliary Motility Disorders/genetics* ; Spermatogenesis/genetics* ; Female

Objective To investigate the effect of growth differentiation factor 15(GDF15)on apoptosis and insulin secretion of MIN6 cells under high glucose conditions.Methods The mouse pancreatic islet β cell line(MIN6 cells)were divided into four groups:NG group,NG+rGDF15 group,HG group,and HG+rGDF15 group.The cell morphology among groups were observed,the apoptosis rate,the protein expression levels of Bcl-2 and Bax and the insulin level was detected.Results HG group exhibited significant cellular damage,characterized by upregulated apoptosis-promoting protein Bax and downregulated apoptosis-suppressing protein Bcl-2 expression,accompanied by a marked increase in apoptosis rate and a substantial decrease in insulin secretion(P＜0.01).Administration of recombinant GDF15 protein improved MIN6 cell morphology,significantly reduced Bax protein relative expression,elevated Bcl-2 protein relative expression,markedly decreased apoptosis rate,and enhanced insulin secretion(P＜0.01).Conclusion GDF15 can mitigate high glucose-induced MIN6 cell damage.

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Objective To conduct a scoping review of studies on nurses' self-efficacy in disaster contexts,and to provide references for enhancing nurses' self-efficacy in disaster response.Methods Guided by the methodology of scoping review,we systematically searched PubMed,Web of Science,Cochrane Library,CINAHL,China National Knowledge Infrastructure(CNKI),Wanfang Data,VIP Database,and China Biology Medicine disc(CBM)from inception to July 3,2025.Totally 2 researchers independently screened the search results,summarized them,and extracted relevant data.Results A total of 21 studies were included.Nurses' self-efficacy in disaster contexts was generally at a moderate level,influenced by multiple factors including sociodemographic characteristics,occupational background,and physical and mental health status.The main assessment tools were the General Self-Efficacy Scale and the Disaster Response Self-Efficacy Scale.Interventions included psychological first aid training,scenario simulation training,and immersive movie escape room training.Conclusion Nurses' self-efficacy in disaster contexts is generally at a moderate level with multiple influencing factors.Relevant assessment tools need further optimization,and interventions require further refinement.

Objective:To explore the effect of kidney-strengthening and blood stasis-eliminating formula on nutritional status and quality of life in patients with osteoporosis combined with hemodialysis.Methods:From January 2024 to January 2025,60 patients with liver and kidney yin deficiency and blood stasis obstruction were selected from the Pizhou City Traditional Chinese Medicine Hospital's Hemodialysis Center.60 patients were randomly divided into two groups,30 in each group.The matched group received general treatment plus paricalcitol,while the treatment group received the same treatment plus Yishen Zhuyu Fang(a traditional Chinese medicine formula for kidney and blood stasis).The treatment course lasted 12 weeks.Changes in TCM syndrome scores,the Modified Subjective Global Assessment(MQSGA),the Kidney and Life Quality(KDQOLTM-36)scale,lipid levels,and nutritional indicators were compared before and after treatment.Results:After treatment,the TCM syndrome scores in both groups decreased(P＜0.05),with a more pronounced decrease in the treatment group(P＜0.05).The KDQOLTM-36 score in the treatment group increased(P＜0.05),while the increase was not significant in the matched group(P＞0.05),indicating that the treatment group performed better than the matched group(P＜0.05).Both groups experienced a decrease in the MQSGA score(P＜0.05),although the difference was not statistically significant(P＞0.05),the treatment group showed a more noticeable decline.The TC,TG,LDL,and TG/HDL levels in the treatment group all decreased significantly,while HDL levels increased(P＜0.05).In contrast,the TC and HDL levels in the matched group did not change(P＞0.05),while the TG,LDL,and TG/HDL levels increased(P＜0.05).The treatment group performed significantly better than the matched group(P＜0.05).The TRF,Hb,and ALB levels in the treatment group increased(P＜0.05),while the increase was not significant in the matched group(P＞0.05).The total effective rate of the treatment group was 90％,higher than the matched group(23.3％)(P＜0.05).Conclusion:The formula of tonifying the kidney and removing stasis can improve the nutritional status and quality of life of patients with liver and kidney yin deficiency and blood stasis obstruction in hemodialysis combined with osteoporosis.

Objective:To explore the categories of benefit finding among gastric cancer patients, analyze the differences and influencing factors among different groups, and provide reference for clinical nursing.Methods:A convenience sampling method was used to select 279 hospitalized gastric cancer patients admitted to the First Affiliated Hospital of Anhui Medical University from January 2024 to May 2024. The general information investigation, Benefit Finding Scale, Health-Related Hardiness Scale, Chronic Diseases Risk Perception Questionnaire and Distress Disclosure Index were used for cross-sectional survey. Latent profile analysis was used to identify the potential categories of benefit finding in patients with gastric cancer, and multivariate Logistic regression was used to analyze the related influencing factors.Results:A total of 266 valid questionnaires were returned, including 195 males and 71 females, with an age of (63.77 ± ?9.36) years. And three latent profiles of benefit finding were identified: low benefit-low growth group (31.96%, 85/266), moderate benefit group (37.59%, 100/266), and high benefit-health behavior group (30.45%, 81/266). The results of multiple Logistic regression analysis showed that compared with the moderate benefit group, the patients with course of disease<6 months ( OR = 0.344, 95% CI 0.160-0.737), cancer stage Ⅰ ( OR = 0.050, 95% CI 0.004-0.589), and highrisk perception ( OR = 0.935, 95% CI 0.878-0.996) were more likely to enter the low benefit-low growth group, and the patients without comorbidities ( OR = 2.520, 95% CI 1.250-5.081) and high self-disclosure ( OR = 1.137, 95% CI 1.007-1.283) were more likely to enter the moderate benefit group (all P<0.05). Compared with the high benefit-health behavior group, patients withcourse of disease<6 months ( OR = 0.108, 95% CI 0.039-0.301) were more likely to enter the low benefit-low growth group, male ( OR = 3.088, 95% CI 1.407-9.106), chemotherapy only ( OR = 6.515, 95% CI 2.034-20.864) and high health-related hardiness ( OR = 1.146, 95% CI 1.096-1.199) were more likely to enter the high benefit-health behavior group (all P<0.05). Conclusions:The benefit finding of gastric cancer patients has obvious classification characteristics. Clinical nursing staff should consider targeted interventions according to the characteristics of different categories of gastric cancer patients, encourage patients to face the disease with a positive attitude, and enhance patients′mental health literacy.

Objective:To systematically evaluate and integrate the disease experience and needs of gastric cancer patients, so as to provide an evidence-based basis for clinical nursing.Methods:Qualitative studies on gastric cancer patients' experiences and needs during the disease process were electronically searched in PubMed, Web of Science, Embase, CINAHL, Cochrane Library, China National Knowledge Infrastructure, WanFang Data, VIP, and China Biomedical Database. The search period was from database establishment to February 2024. The quality of the literature was evaluated using the quality evaluation criteria for qualitative research of the Joanna Briggs Institute Evidence-Based Health Care Center. Meta-synthesis of results was performed using the aggregative synthesis.Results:A total of 13 papers were included, and 50 themes were distilled and summarized to form 11 new categories and three integrative results, including suffering and challenges from illness, self-adjustment and the search for a new normal in life, and undermet needs.Conclusions:Gastric cancer patients face a variety of significant challenges and changes during the course of their disease. Healthcare professionals should pay attention to the patients' disease experience and physical and mental needs, and construct personalized care plans for gastric cancer patients to help them coexist with the disease and achieve life reconstruction.

Objective:To explore the effect of kidney-strengthening and blood stasis-eliminating formula on nutritional status and quality of life in patients with osteoporosis combined with hemodialysis.Methods:From January 2024 to January 2025,60 patients with liver and kidney yin deficiency and blood stasis obstruction were selected from the Pizhou City Traditional Chinese Medicine Hospital's Hemodialysis Center.60 patients were randomly divided into two groups,30 in each group.The matched group received general treatment plus paricalcitol,while the treatment group received the same treatment plus Yishen Zhuyu Fang(a traditional Chinese medicine formula for kidney and blood stasis).The treatment course lasted 12 weeks.Changes in TCM syndrome scores,the Modified Subjective Global Assessment(MQSGA),the Kidney and Life Quality(KDQOLTM-36)scale,lipid levels,and nutritional indicators were compared before and after treatment.Results:After treatment,the TCM syndrome scores in both groups decreased(P＜0.05),with a more pronounced decrease in the treatment group(P＜0.05).The KDQOLTM-36 score in the treatment group increased(P＜0.05),while the increase was not significant in the matched group(P＞0.05),indicating that the treatment group performed better than the matched group(P＜0.05).Both groups experienced a decrease in the MQSGA score(P＜0.05),although the difference was not statistically significant(P＞0.05),the treatment group showed a more noticeable decline.The TC,TG,LDL,and TG/HDL levels in the treatment group all decreased significantly,while HDL levels increased(P＜0.05).In contrast,the TC and HDL levels in the matched group did not change(P＞0.05),while the TG,LDL,and TG/HDL levels increased(P＜0.05).The treatment group performed significantly better than the matched group(P＜0.05).The TRF,Hb,and ALB levels in the treatment group increased(P＜0.05),while the increase was not significant in the matched group(P＞0.05).The total effective rate of the treatment group was 90％,higher than the matched group(23.3％)(P＜0.05).Conclusion:The formula of tonifying the kidney and removing stasis can improve the nutritional status and quality of life of patients with liver and kidney yin deficiency and blood stasis obstruction in hemodialysis combined with osteoporosis.

Objective:To summarize the best evidence for neck and shoulder function rehabilitation strategies in postoperative patients with head and neck tumors.Methods:Evidence-based questions were constructed according to the population, intervention, professional, outcome, setting, type of evidence (PIPOST), and the literature on neck and shoulder function rehabilitation strategies for postoperative patients with head and neck tumors was electronically searched in databases and websites such as UpToDate, BMJ Best Practice, Guidelines International Network, National Comprehensive Cancer Network, Medlive, PubMed, Embase, CHINAL, Web of Science, Joanna Briggs Institute Evidence-Based Health Care Center Database, China National Knowledge Infrastructure, Wanfang Data. The search period spanned from the establishment of the database to April 1, 2024. Two researchers screened the literature, evaluated the methodological quality of the literature, and extracted and summarized the evidence.Results:A total of 14 articles were included, including two clinical decisions, two guidelines, two expert consensus, four systematic reviews, three randomized controlled trials, and one quasi-experiment. Twenty-two pieces of evidence were summarized from six aspects of multidisciplinary collaboration, neck and shoulder functional assessment, neck and shoulder functional training, physical therapy, prevention, and follow-up.Conclusions:The best evidence for neck and shoulder function rehabilitation strategies for postoperative patients with head and neck tumors summarized is scientific and clinically applicable. Healthcare professionals need to select and apply the best evidence in a targeted manner, considering the clinical context.

Objective To conduct a scoping review of studies on nurses' self-efficacy in disaster contexts,and to provide references for enhancing nurses' self-efficacy in disaster response.Methods Guided by the methodology of scoping review,we systematically searched PubMed,Web of Science,Cochrane Library,CINAHL,China National Knowledge Infrastructure(CNKI),Wanfang Data,VIP Database,and China Biology Medicine disc(CBM)from inception to July 3,2025.Totally 2 researchers independently screened the search results,summarized them,and extracted relevant data.Results A total of 21 studies were included.Nurses' self-efficacy in disaster contexts was generally at a moderate level,influenced by multiple factors including sociodemographic characteristics,occupational background,and physical and mental health status.The main assessment tools were the General Self-Efficacy Scale and the Disaster Response Self-Efficacy Scale.Interventions included psychological first aid training,scenario simulation training,and immersive movie escape room training.Conclusion Nurses' self-efficacy in disaster contexts is generally at a moderate level with multiple influencing factors.Relevant assessment tools need further optimization,and interventions require further refinement.