1.Exploration of radiotherapy as a combined treatment modality with in situ vaccines in the treatment of advanced soft tissue sarcomas
TAN Siyi, ; WANG Xiaolu ; WANG Qin ; DU Shiyao ; YIN Fangtao ; YANG Yiqi ; SUN Wu ; LIU Juan ; ZHOU Xia ; LIU Baorui, ; LI Rutian
Chinese Journal of Cancer Biotherapy 2025;32(4):418-424
[摘 要] 目的:评估放疗作为原位疫苗的联合治疗模式在晚期软组织肉瘤(STS)患者中的有效性和安全性。方法:回顾性分析2020年12月至2024年9月期间在南京大学医学院附属鼓楼医院肿瘤中心接受联合治疗模式的12例晚期STS患者的临床资料。12例患者均接受了联合治疗。放疗主要以大分割为主。靶向治疗:安罗替尼10例、阿帕替尼2例。免疫治疗以PD-1抗体为主。主要研究终点为疾病控制率(DCR),次要研究终点为客观有效率(ORR)及安全性。结果:接受联合治疗的12例STS患者中有0例CR,4例PR,7例SD,1例PD。ORR为33%,DCR为91.7%,其中靶病灶的DCR为100%。12例患者中,9例出现Ⅰ~Ⅱ级不良反应。最常发生的血液学不良反应是贫血(6例)、肝功能检查结果异常(3例)。最常发生的非血液学不良反应是尿蛋白(5例)、高血压(4例)、甲状腺功能异常(3例)、厌食(3例)、恶心呕吐(2例);仅2例发生Ⅲ级血液毒性,有1例发生Ⅲ级气胸。结论:放疗作为原位疫苗的联合治疗模式在晚期STS患者中展现出较高的DCR,且未出现严重不良反应。该联合治疗模式具有良好的有效性与安全性。
2.Correlation among picky eating levels in preschool children, parenting self-efficacy and parenting stress
YANG Jing, LIU Qian, YIN Xia, GU Ling, ZHU Jie
Chinese Journal of School Health 2025;46(5):681-684
Objective:
To explore the correlation among picky eating levels in preschool children, parental self-efficacy and parenting stress.
Methods:
A convenience sampling method was employed to conduct an electronic questionnaire survey among 459 children aged 3-6 years and their parents from five kindergartens in Urumqi in November 2023. The survey included a general information questionnaire, the Children s Eating Behavior Questionnaire (CEBQ), the Parenting Sense of Competence Scale (PSOC), and the Parenting Stress Index-Short Form (PSI-SF). The Mann-Whitney U-test was used for twogroup comparisons, and the Kruskal-Wallis H-test was applied for multi-group comparisons. Spearman correlation analysis was conducted to examine the relationships between children s picky eating levels and parenting selfefficacy as well as parenting stress.
Results:
The picky eating score of preschool children was 10.00 (4.00), and the parenting self-efficacy score was 58.00 (12.00), both indicating a moderate level. The parenting stress score was 75.00 (16.00), reflecting a moderately low level. Spearman correlation analysis showed that children s picky eating levels were negatively correlated with the total score of parenting self-efficacy ( r =-0.28) and positively correlated with the total score of parenting stress( r =0.25)( P <0.01).
Conclusions
Picky eating levels of preschool children are closely associated with parenting self-efficacy and parenting stress. Picky eating behaviors in children can be reduced by implementing various effective measures to enhance parenting self-efficacy and alleviate parenting stress.
3.The Use of Speech in Screening for Cognitive Decline in Older Adults
Si-Wen WANG ; Xiao-Xiao YIN ; Lin-Lin GAO ; Wen-Jun GUI ; Qiao-Xia HU ; Qiong LOU ; Qin-Wen WANG
Progress in Biochemistry and Biophysics 2025;52(2):456-463
Alzheimer’s disease (AD) is a chronic neurodegenerative disorder that severely affects the health of the elderly, marked by its incurability, high prevalence, and extended latency period. The current approach to AD prevention and treatment emphasizes early detection and intervention, particularly during the pre-AD stage of mild cognitive impairment (MCI), which provides an optimal “window of opportunity” for intervention. Clinical detection methods for MCI, such as cerebrospinal fluid monitoring, genetic testing, and imaging diagnostics, are invasive and costly, limiting their broad clinical application. Speech, as a vital cognitive output, offers a new perspective and tool for computer-assisted analysis and screening of cognitive decline. This is because elderly individuals with cognitive decline exhibit distinct characteristics in semantic and audio information, such as reduced lexical richness, decreased speech coherence and conciseness, and declines in speech rate, voice rhythm, and hesitation rates. The objective presence of these semantic and audio characteristics lays the groundwork for computer-based screening of cognitive decline. Speech information is primarily sourced from databases or collected through tasks involving spontaneous speech, semantic fluency, and reading, followed by analysis using computer models. Spontaneous language tasks include dialogues/interviews, event descriptions, narrative recall, and picture descriptions. Semantic fluency tasks assess controlled retrieval of vocabulary items, requiring participants to extract information at the word level during lexical search. Reading tasks involve participants reading a passage aloud. Summarizing past research, the speech characteristics of the elderly can be divided into two major categories: semantic information and audio information. Semantic information focuses on the meaning of speech across different tasks, highlighting differences in vocabulary and text content in cognitive impairment. Overall, discourse pragmatic disorders in AD can be studied along three dimensions: cohesion, coherence, and conciseness. Cohesion mainly examines the use of vocabulary by participants, with a reduction in the use of nouns, pronouns, verbs, and adjectives in AD patients. Coherence assesses the ability of participants to maintain topics, with a decrease in the number of subordinate clauses in AD patients. Conciseness evaluates the information density of participants, with AD patients producing shorter texts with less information compared to normal elderly individuals. Audio information focuses on acoustic features that are difficult for the human ear to detect. There is a significant degradation in temporal parameters in the later stages of cognitive impairment; AD patients require more time to read the same paragraph, have longer vocalization times, and produce more pauses or silent parts in their spontaneous speech signals compared to normal individuals. Researchers have extracted audio and speech features, developing independent systems for each set of features, achieving an accuracy rate of 82% for both, which increases to 86% when both types of features are combined, demonstrating the advantage of integrating audio and speech information. Currently, deep learning and machine learning are the main methods used for information analysis. The overall diagnostic accuracy rate for AD exceeds 80%, and the diagnostic accuracy rate for MCI also exceeds 80%, indicating significant potential. Deep learning techniques require substantial data support, necessitating future expansion of database scale and continuous algorithm upgrades to transition from laboratory research to practical product implementation.
4.Strategies and advances in hepatitis B vaccination in China
Lin TANG ; Xia XU ; Zemei ZHOU ; Xiaoqi WANG ; Jizhen LI ; Zundong YIN ; Fuzhen WANG
Journal of Clinical Hepatology 2025;41(2):210-215
Hepatitis B is a major global public health issue. Through the implementation of comprehensive prevention and control strategies centered on hepatitis B vaccination, China has achieved remarkable progress in hepatitis B prevention and control, while there are still many issues and challenges. This article reviews the development of hepatitis B vaccination strategies in China, analyzes the goal and advances in vaccination in different populations, and problems and challenges, in order to provide a reference for further optimizing vaccination strategies and improving the levels of prevention and control.
5.Antigen distribution frequency of Han and Tujia polyhemia systems in Chongqing
Pengwei YIN ; Bujin LIU ; Danli CUI ; Huayou DAI ; Haiman ZOU ; Siqi WU ; Xia HUANG ; Yongzhu XU
Chinese Journal of Blood Transfusion 2025;38(2):214-221
[Objective] To analyse the distribution of antigen phenotypes in the Rh, MNS and Kidd blood group systems of Han and Tujia blood donors in Chongqing, and to provide data support for the establishment of an expanded blood group antigen phenotype database and the development of expanded blood group coordinated transfusion in blood donors. [Methods] The antigens of Rh, MNS and Kidd blood group systems in Han and Tujia blood donors in Chongqing were detected by test-tube method, and the Hardy-Weinborg anastomosis of the three blood group systems was calculated. Pearson's chi-square test and Fisher's exact probability method were used to compare the differences in phenotypic distribution frequencies among different regions and ethnic groups. [Results] Han and Tujia blood donors accounted for the highest proportion of CCee in the antigenic phenotype of the Rh blood group system, followed by CcEe, and then Ccee and ccEE. Tujia blood donors accounted for 52.02% of CCee, which was higher than that of Han blood donors (47.24%), while Han blood donors accounted for 32.20% of CcEe, which was higher than that of Tujia blood donors (28.94%). In the antigenic phenotype of the MNS blood group system, the blood donors of Han nationality and Tujia were MN>MM>NN,. The antigen phenotype distribution frequency of the Kidd blood group system was highest for Jk(a+b+) among both Han and Tujia blood donors, and the blood donors of Han nationality were Jk(a+b+)>Jk(a+b+), while those of Tujia were Jk(a-b+)>Jk(a+b-). The antigens of the three blood groups of Han and Tujia blood donors were consistent with the Hardy-Weinberg balance(P>0.05). There was no statistically significant difference in the frequency of antigen phenotypes of the three blood group systems between Han and Tujia blood donors(P>0.05). There were statistically significant differences in the phenotypic distribution frequency of Rh antigens between Chongqing and Xi'an, Zhejiang, Shantou, Foshan, Nanning and Yangzhou(P<0.05), but not with Guang'an and Shenzhen(P>0.05). There were statistically significant differences in the phenotypic distribution frequency of Rh antigens between Han, Tujia, Zang, Mongolian, Korean and Hani ethnic groups in Chongqing(P<0.05). There were statistically significant differences in the phenotypic distribution frequency of MNS antigens between Han blood donors in Chongqing and Urumqi, Hainan and Yuncheng, but not with Xi'an and Wenzhou. There was a statistically significant difference in the phenotypic distribution frequency of MNS antigen between Tujia blood donors in Chongqing and Urumqi and Hainan(P<0.05), but there was no significant difference in the phenotypic distribution frequency of MNS antigen between Tujia blood donors in Chongqing, Urumqi and Hainan(P>0.05). There was a statistically significant difference in the phenotypic distribution frequency of Kidd antigens between blood donors in Chongqing and Harbin(P<0.05), but not in Huizhou, Wenzhou and Yichang(P>0.05). [Conclusion] The population in Chongqing has multi-ethnic characteristics, and the antigenic phenotypes of Rh, MNS and Kidd blood group systems exhibit diversity and regional differences. Establishing an expanded blood bank can provide more options for precision blood transfusion.
6.Effect of the nitroglycerin-controlled low central venous pressure technique on cerebral metabolic markers and cerebral blood oxygen saturation in patients undergoing laparoscopic hepatectomy for liver cancer
Bo WANG ; Xia FU ; Conghai LYU ; Chunfang YIN ; Qiyuan WU
Journal of Clinical Hepatology 2025;41(3):478-484
ObjectiveTo investigate the effect of the nitroglycerin-controlled low central venous pressure (CLCVP) technique on brain metabolic markers and cerebral blood oxygen saturation in patients undergoing laparoscopic hepatectomy for liver cancer, and to reduce the risk of neurological complications. MethodsA total of 105 patients who underwent elective laparoscopic hepatectomy for liver cancer in Haikou Hospital Affiliated to Xiangya Hospital of Central South University from April 2020 to May 2023 were enrolled and randomly divided into CLCVP group with 54 patients and non-CLCVP group with 51 patients. The patients in the CLCVP group were treated with the nitroglycerin CLCVP technique during surgery, while those in the non-CLCVP group were given conventional surgical treatment. The two groups were compared in terms of the following indicators: perioperative indicators; hemodynamic parameters and cerebral oxygen metabolism before anesthesia induction (T0), at 5 minutes after anesthesia induction (T1), at 5 minutes after the beginning of liver parenchyma dissection (T2), at 5 minutes after the end of hepatectomy (T3), and immediately after the end of surgery (T4); the changes in liver function parameters after surgery; the incidence rate of adverse reactions. The independent-samples t test was used for comparison of continuous data between two groups, and the chi-square test was used for comparison of categorical data between two groups; the analysis of variance with repeated measures was used for comparison between multiple time points. ResultsCompared with the non-CLCVP group, the CLCVP group had significantly lower intraoperative blood loss and intraoperative fluid infusion volume (t=5.408 and 7.220, both P<0.05), while there were no significant differences between the two groups in time of operation, anesthesia time, extubation time, resuscitation time and intraoperative urine volume (all P>0.05). Compared with the data at T0, both groups had significant reductions in mean arterial pressure, heart rate, and central venous pressure during surgery (all P<0.05), and compared with the non-CLCVP group, the CLCVP group had significantly lower mean arterial pressure and central venous pressure (P<0.05) and a significantly higher heart rate (P<0.05) at T2 and T3. Compared with the data at T0, both groups had a significant reduction in Ca-jvDO2 at T2 — T4 time points (all P<0.05), while there was no significant difference in Ca-jvDO2 between the two groups at each time point (all P>0.05). Compared with the data at T0, the CLCVP group had a significant reduction in rSO2 at T2 — T4 time points (all P<0.05), and the CLCVP group had a significantly lower level of rSO2 than the non-CLCVP group at T2 — T3 time points (both P<0.05); there were no significant changes in CERO2 and Djv-aBL in either group at each time point (all P>0.05). At 3 and 7 days after surgery, both groups had significant increases in the liver function parameters of aspartate aminotransferase (AST), alanine aminotransferase (ALT), and total bilirubin (TBil) (all P<0.05), and the CLCVP group had significantly lower levels of AST and ALT than the non-CLCVP group (all P<0.05); there was no significant difference in TBil between the two groups at each time point (all P>0.05). There was no significant difference in the incidence rate of perioperative complications between the two groups (χ2=0.729, P=0.394). ConclusionThe application of the nitroglycerin CLCVP technique in laparoscopic hepatectomy for liver cancer can reduce the amount of intraoperative blood loss in patients, but it is necessary to further enhance the monitoring of cerebral blood oxygen saturation during surgery, so as to reduce the risk of neurological complications as much as possible.
7.Relationship of positive and negative peer events with mental health problems among college students
YIN Xia, TONG Yingying, SU Puyu
Chinese Journal of School Health 2025;46(3):377-381
Objective:
To understand relationship of positive and negative peer events with mental health problems among college students, so as to provide a scientific basis for improving mental health level of college students.
Methods:
A total of 1 640 freshmen to juniors were randomly selected from two universities in Anhui Province from October to November 2023 by a combination of convenience sampling and cluster random sampling method. The positive and negative peer events, self perceived loneliness and stress levels, anxiety and depression symptoms of students were investigated by using the questionnaire star online. Group comparisons were conducted by using analysis of variance and Chi square test, and multivariate binary Logistic regression and linear regression were used to analyze relationship of positive and negative peer events with mental health problems among college students.
Results:
About 35.4% of college students reported that they experienced at least one type of negative peer events, and 91.3% reported that they experienced at least one type of positive peer events. After controlling for covariates,multivariate regression analysis found that experiencing 1, ≥2 types of negative peer events were positively correlated with loneliness scores of college students ( β = 1.36,4.04), as well as an increased risk of anxiety symptoms ( OR =2.24,4.33) and depression symptoms ( OR =2.19,4.01); and experiencing ≥2 types of negative peer events was positively correlated with stress scores of college students ( β =1.12)( P <0.05). Experiencing 5-6 and 7 types of positive peer events were negatively correlated with loneliness scores of college students ( β = -1.79, -2.44) and stress ( β =-0.75, -1.12); and experiencing 7 types of positive peer events were associated with a lower risk of anxiety symptoms ( OR =0.74) and depressive symptoms ( OR =0.80) ( P <0.05). The number of negative peer events was positively correlated with loneliness scores ( β =0.80) and stress scores( β =0.24), as well as the risk of anxiety symptoms ( OR =1.30) and depressive symptoms ( OR =1.27) among college students ( P <0.05). The number of positive peer events involved was negatively correlated with loneliness scores( β =-0.39) and stress scores( β =-0.19), as well as the risk of anxiety ( OR =0.92) and depressive symptoms ( OR =0.93) among college students ( P <0.05). The analysis of the moderating effect found that in different groups of positive peer events, reporting 1, ≥2 negative peer events were positively correlated with loneliness scores of college students ( β=1.08- 4.96), as well as an increased risk of anxiety symptoms ( OR =1.79-6.20) and depression symptoms ( OR =1.78-6.77) ( P <0.05); and β and OR coefficients were highest in the group reporting 0-4 types of positive peer events, followed by the group reporting 5-6 types of positive peer events, with lowest coefficients in the group reporting 7 types of positive peer events.
Conclusions
Negative peer events are positively correlated with psychological problems in college students, and positive peer events are negatively correlated with mental health problems. Positive peer events could alleviate the impact of negative peer events on mental health problems.
8.Expression Level of Small Nuclear Ribonucleoprotein D1 in Gastric Cancer and Its Effect on Prognosis.
Li-Xia YIN ; Jing-Jing YANG ; Min-Zhu NIU ; Zhi-Jun GENG ; Li JIANG-YAN ; Li JING
Acta Academiae Medicinae Sinicae 2025;47(1):1-9
Objective To investigate the expression of small nuclear ribonucleoprotein D1 (SNRPD1) in the gastric cancer tissue and evaluate the predictive value of SNRPD1 expression level for the long-term prognosis of gastric cancer patients and the possible functioning mechanism of SNRPD1. Methods The UALCAN and Gene Expression Profiling Interactive Analysis (GEPIA) were employed to analyze the expression level of SNRPD1 in pan-cancer and its relationship with the prognosis of gastric cancer.The clinical data of 109 patients who underwent radical surgery for gastric cancer from January 2014 to January 2017 in the First Affiliated Hospital of Bengbu Medical University were retrospectively analyzed.Gastric cancer and paracancerous tissue samples were collected,and the expression of SNRPD1 was detected by immunohistochemical staining.Lentiviral transfection was employed to construct the BGC-823 gastric cancer cell models with stable high and low expression of SNRPD1,respectively.The CCK-8 assay and colony formation assay were employed to measure the proliferation of gastric cancer cells,and flow cytometry was used to analyze the cell cycle.Western blotting was employed to determine the expression levels of proteins in the signaling pathway. Results The data from UALCAN and GEPIA showed that SNRPD1 was highly expressed in the tissue of malignant tumors including gastric cancer (P<0.001).The expression level of SNRPD1 in the gastric cancer tissue was higher than that in the paracancerous tissue (P<0.001).Moreover,the expression level of SNRPD1 was positively correlated with the levels of carcinoembryonic antigen (P<0.001),carbohydrate antigen 19-9 (P<0.001),G stage (P=0.042),T stage (P=0.002),and N stage (P=0.027) in the patients with gastric cancer.The high expression of SNRPD1 had a predictive value for the long-term prognosis of gastric cancer (P<0.001),and it was an independent risk factor for the death of gastric cancer patients (P=0.003).The results of gene ontology and kyoto encyclopedia of genes and Genomes enrichment analyses showed that SNRPD1 was involved in the regulation of the cell cycle.The results of CCK-8 and colony formation assays showed that up-regulation of SNRPD1 promoted the proliferation of gastric cancer cells (P<0.001,P<0.001).The up-regulation of SNRPD1 up-regulated the expression of cyclin-dependent kinase 6 and G1/S-specific cyclin-D1 (P<0.001,P=0.002),whereas the interference in SNRPD1 led to opposite results (P=0.004,P<0.001).SNRPD1 accelerated the G1/S phase transition of gastric cancer cells (P<0.001).The overexpression of SNRPD1 promoted the expression of phosphorylated phosphatidylinositol 3-kinase (PI3K) and phosphorylated protein kinase B (Akt) in gastric cancer cells (P=0.043,P<0.001),whereas disruption of SNRPD1 inhibited their expression (both P<0.001).Insulin-like growth factor 1,an agonist of the PI3K/Akt signaling pathway,promoted the proliferation of gastric cancer cells with SNRPD1 disturbed (P=0.002). Conclusion High expression of SNRPD1 in the gastric cancer tissues is associated with poor prognosis,and it may promote tumor cell proliferation and regulate the cell cycle by activating the PI3K/Akt signaling pathway.
Humans
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Stomach Neoplasms/pathology*
;
Prognosis
;
Cell Line, Tumor
;
Cell Proliferation
;
Retrospective Studies
;
Cell Cycle
;
Male
;
Female
9.Effect of Afzelin on 2,4,6-Trinitrobenzene Sulfonic Acid-Induced Colitis in Mice.
Zhi-Jun GENG ; Li-Xia YIN ; Min-Zhu NIU ; Jing-Jing YANG ; Xiao-Feng ZHANG ; Jing LI
Acta Academiae Medicinae Sinicae 2025;47(2):207-218
Objective To investigate the role and mechanism of afzelin(AFZ)in treating Crohn's disease-like colitis.Methods A mouse model of 2,4,6-trinitrobenzene sulfonic acid-induced colitis was established to assess the effect of AFZ on experimental colitis in vivo.A Caco-2 cell model of tumor necrosis factor(TNF)-α-induced inflammation was established to evaluate the effects of AFZ on the intestinal barrier function,intestinal epithelial cell apoptosis,and mitochondrial function in vitro.The animal and cell experiments were performed to validate the regulatory role of the adenosine monophosphate-activated protein kinase(AMPK)/silent information regulater 1(SIRT1)/peroxisome proliferator-activated receptor gamma coactivator(PGC)-1α pathway in the treatment of colitis with AFZ.Results AFZ reduced the disease activity index(P=0.003),weight loss(P<0.001),colon shortening(P<0.001),inflammation score(P=0.002),pro-inflammatory cytokine release(interleukin-6:P<0.001;TNF-α:P=0.010),and intestinal barrier permeability(fluorescein isothiocyanate dextran 4:P<0.001;intestinal-type fatty acid-binding protein:P=0.013).Meanwhile,AFZ increased the colonic transepithelial electric resistance(P=0.001),reduced bacterial translocation(P<0.001),and promoted the localization and up-regulated the expression of tight junction proteins [zonula occluden-1(P=0.005) and Claudin-1(P=0.024)].AFZ exerted a protective effect on the Caco-2 cells exposed to TNF-α in terms of intestinal epithelial cell permeability(P=0.017),transepithelial electric resistance(P=0.014),and tight junction protein[zonula occluden-1(P=0.014) and Claudin-1(P=0.006)] localization and expression.Furthermore,the cell and animal experiments confirmed that AFZ reduced the percentage of apoptosis(P<0.001,P=0.013)and the expression of cleaved-caspase 3(P=0.028,P=0.004)and Bax(P=0.004,P=0.020),and upregulated the Bcl2(P=0.020,P=0.006)level in intestinal epithelial cells.Additionally,AFZ increased the number of mitochondria,mitochondrial membrane potential,and copy number of mitochondrial DNA(P=0.007)in intestinal epithelial cells,while enhancing the activities of mitochondrial respiratory chain complex Ⅰ(P=0.005)and complex Ⅳ(P=0.001).The activation of the AMPK/SIRT1/PGC-1α pathway was involved in the protective effects of AFZ on mitochondrial function and apoptosis in intestinal epithelial cells.Conclusion AFZ alleviates mitochondrial dysfunction and apoptosis in intestinal epithelial cells by activating the AMPK/SIRT1/PGC-1α pathway,thereby ameliorating intestinal barrier dysfunction and experimental colitis.
Animals
;
Colitis/drug therapy*
;
Humans
;
Caco-2 Cells
;
Mice
;
Trinitrobenzenesulfonic Acid
;
Apoptosis/drug effects*
;
Disease Models, Animal
;
AMP-Activated Protein Kinases/metabolism*
;
Sirtuin 1/metabolism*
10.CFAP300 loss-of-function variant causes primary ciliary dyskinesia and male infertility via disrupting sperm flagellar assembly and acrosome formation.
Hua-Yan YIN ; Yu-Qi ZHOU ; Qun-Shan SHEN ; Zi-Wen CHEN ; Jie-Ru LI ; Huan WU ; Yun-Xia CAO ; Rui GUO ; Bing SONG
Asian Journal of Andrology 2025;27(6):743-750
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
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Male
;
Infertility, Male/pathology*
;
Acrosome/pathology*
;
Sperm Tail/pathology*
;
Pedigree
;
Spermatozoa
;
Adult
;
Loss of Function Mutation
;
Ciliary Motility Disorders/genetics*
;
Spermatogenesis/genetics*
;
Female


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