1.Current quality status and management countermeasures of occupational health technical services in Zhejiang Province
Qiuliang XU ; Feng HAN ; Peng WANG ; Zhen ZHOU ; Fei LI ; Hongwei XIE ; Yong HU ; Weiming YUAN ; Lifang ZHOU ; Hua ZOU
Journal of Environmental and Occupational Medicine 2026;43(3):341-346
Background The quality of occupational health technical services is directly linked to the protection of workers' health rights and the efficacy of occupational disease prevention and control. However, the industry still faces critical challenges: sporadic instances of institutional non-compliance and persistent irregularities in professional practice continue to undermine overall service performance. Objective To assess the current quality status of occupational health technical services in Zhejiang Province and propose countermeasures for quality improvement, providing a scientific basis for policy optimization and service delivery quality enhancement. Methods A total of 69 occupational health technical service institutions in Zhejiang Province that obtained formal accreditation as of April 30, 2024, were sampled, including 3 public institutions and 66 private institutions (comprising 3 formerly Class-A, 28 formerly Class-B, 11 formerly Class-C, and 24 newly certified institutions). Following the Technical Protocol for Quality Monitoring of Occupational Health Technical Service in Zhejiang Province and the Technical Protocol for Proficiency Testing of Occupational Health Detection in Zhejiang Province, a quality assessment task force comprising national and provincial experts was established. Evaluation was conducted across four dimensions: qualification maintenance and compliance, standardization of technical services, authenticity of technical services, and proficiency testing, utilizing a combination of document review, on-site inspections, and technical skill assessments. Results The occupational health technical service institutions in Zhejiang Province were predominantly private entities (82.5%), with significant disparities in overall service quality. The pass rates for qualification maintenance and compliance, technical service standardization, technical service authenticity, and the excellence rate for laboratory proficiency testing were 81.5%, 80.7%, 97.3%, and 90.4%, respectively. Regarding qualification maintenance, the pass rates for "environmental conditions" (49.8%, 56.7%) and "instrumentation and equipment" (58.2%、65.6%) were significantly lower for formerly Class-C and newly certified institutions compared to other categories. In terms of technical standardization, "standardized on-site inspections" recorded the lowest pass rate (67.4%), with newly certified institutions at only 48.0%. Regarding technical service authenticity, formerly Class-C institutions exhibited issues such as missing raw chromatograms for blank samples (85.7% pass rate). In laboratory proficiency testing, public and formerly Class-A institutions achieved 100% excellence rates, but the performance of formerly Class-C and newly certified institutions was comparatively weak; specifically, the failure rate for organic analysis in formerly Class-C institutions reached 20%; the failure rate for dust testing items in newly certified institutions was 10.3%. Conclusion The overall quality of occupational health technical services in Zhejiang Province still requires significant improvement, particularly in basic institutional conditions, the standardization of on-site inspections, and laboratory proficiency in organic and dust analysis. Formerly Class-C and newly certified institutions should be the primary focus of quality management efforts. Differentiated regulatory strategies are recommended, alongside strengthening interim and ex-post supervision to gradually enhance the quality of occupational health technical services across all institutions.
2.Association between screening myopia and mixed exposure to air pollution among primary school students in four cities in China
LIU Feng, LI Tingting, TAO Shuman, ZOU Liwei, TAO Fangbiao, WU Xiaoyan
Chinese Journal of School Health 2026;47(5):714-718
Objective:
To investigate the association between screening detected myopia in primary school students and mixed exposure to air pollutants, so as to provide a scientific basis for the prevention and control of myopia in children and adolescents.
Methods:
From May to July 2023, a cluster random sampling method was used to select 15 102 primary school students in grades 3 through 6 from Hefei, Zhongshan, Shenyang, and Nanchang citys. Data were collected through questionnaires, distance vision screening, and computerized refraction. Monthly average concentration data for particulate matter (PM 10 ), fine particulate matter (PM 2. 5), NO 2 and SO 2 were used to calculate the annual average pollutant concentrations for primary school students. Quantile g computation model was employed to analyze the association between mixed exposure to air pollutants and screening detected myopia.
Results:
The differences in concentrations of the four pollutants among cities were statistically significant ( H =12 886.0, 13 285.0, 8 559.0, 13 181.0, all P <0.01). In the overall sample, there was no statistically significant association between combined exposure to air pollutants and the risk of myopia ( β=0.033, 95%CI=-0.004-0.072, P =0.08). Stratified analysis by outdoor activity time showed that among primary school students with outdoor activity time ≤1 h/d, mixed exposure to air pollutants was positively associated with the risk of myopia ( β=0.050, 95%CI=0.002-0.099, P =0.04); after stratification by city, combined exposure to air pollutants was significantly associated with the risk of myopia among primary school students in Nanchang and Shenyang [ β (95% CI )= 0.232(0.175-0.289), 0.080(0.006-0.155), both P <0.05], whereas no statistically significant association was observed among primary school students in Hefei and Zhongshan [ β (95% CI )=-0.010(-0.071-0.051), -0.032(-0.167-0.102), both P > 0.05 ].
Conclusions
Exposure to multiple air pollutants may increase the risk of myopia in primary school students, with the risk influenced by time spent outdoors and geographical location. It is recommended that outdoor activity management for children be strengthened in areas with higher air pollution levels, and that environmental factors be incorporated into comprehensive myopia prevention and control strategies.
3.Mechanism of Shenfukang capsule in ameliorating renal interstitial fibrosis by regulating cellular crosstalk via the STAT3/YAP pathway
Wei DU ; Yufang YANG ; Yanhong LIAO ; Xiaoqin ZOU ; Zhiwei LIANG ; Xiangqian FENG ; Xiaobin ZHONG
China Pharmacy 2026;37(12):1547-1552
OBJECTIVE To investigate the mechanism by which Shenfukang capsule (SFK) ameliorates renal interstitial fibrosis (RIF) by regulating macrophage-fibroblast crosstalk via the signal transducer and activator of transcription 3 (STAT3)/Yes-associated protein (YAP) pathway. METHODS RAW264.7 macrophages were induced to polarize with transforming growth factor-β 1 (TGF-β 1 ). Subsequently, a non-contact co-culture system of macrophages with renal fibroblasts NRK-49F, as well as a non-contact co-culture system of macrophages with YAP-knockdown renal fibroblasts, were established. Cells were treated with low, medium, and high concentrations (4, 8, 16 μg/mL) of SFK, as well as a STAT3 inhibitor (STAT3-I,1.64 μg/mL) and losartan potassium tablets (positive control, 0.28 μg/mL), for 48 h. After intervention, the protein and mRNA expression levels of CD86, CD163, and STAT3 in macrophages, as well as CD86, F4/80, and STAT3 mRNA, were detected. In co-cultured renal fibroblasts, the protein and mRNA expression levels of α -smooth muscle actin ( α -SMA), Vimentin, collagen type Ⅰ (Col-Ⅰ), matrix metalloproteinase-1 (MMP-1), and YAP were detected. In co-cultured YAP-knockdown renal fibroblasts, the protein and mRNA expression levels of α -SMA, Vimentin, and MMP-1 were also detected. RESULTS Following TGF-β 1 induction, the protein expression levels of CD86, CD163, and STAT3, as well as the mRNA expression levels of CD86, F4/80, and STAT3 in macrophages were significantly increased ( P <0.05). The conditioned medium from polarized macrophages activated renal fibroblasts, as evidenced by significantly increased protein and mRNA expression levels of α -SMA, Vimentin, Col-Ⅰ, and YAP, and significantly decreased protein and mRNA expression levels of MMP-1 in renal fibroblasts ( P <0.05). Treatment with SFK and STAT3-I reversed the changes in the above indicators, with the medium concentration SFK group showing stronge r effects on some indicators than the low and high concentration groups. In the non-contact co-culture experiment of macrophages and YAP-knockdown renal fibroblasts, there were no statistically significant differences in the protein and mRNA expression of α-SMA, Vimentin, and MMP-1 among the groups. CONCLUSIONS SFK can inhibit macrophage-renal fibroblast crosstalk by blocking the STAT3/YAP pathway, thereby delaying the progression of RIF.
4.Clinical practice guidelines for intraoperative cell salvage in patients with malignant tumors
Changtai ZHU ; Ling LI ; Zhiqiang LI ; Xinjian WAN ; Shiyao CHEN ; Jian PAN ; Yi ZHANG ; Xiang REN ; Kun HAN ; Feng ZOU ; Aiqing WEN ; Ruiming RONG ; Rong XIA ; Baohua QIAN ; Xin MA
Chinese Journal of Blood Transfusion 2025;38(2):149-167
Intraoperative cell salvage (IOCS) has been widely applied as an important blood conservation measure in surgical operations. However, there is currently a lack of clinical practice guidelines for the implementation of IOCS in patients with malignant tumors. This report aims to provide clinicians with recommendations on the use of IOCS in patients with malignant tumors based on the review and assessment of the existed evidence. Data were derived from databases such as PubMed, Embase, the Cochrane Library and Wanfang. The guideline development team formulated recommendations based on the quality of evidence, balance of benefits and harms, patient preferences, and health economic assessments. This study constructed seven major clinical questions. The main conclusions of this guideline are as follows: 1) Compared with no perioperative allogeneic blood transfusion (NPABT), perioperative allogeneic blood transfusion (PABT) leads to a more unfavorable prognosis in cancer patients (Recommended); 2) Compared with the transfusion of allogeneic blood or no transfusion, IOCS does not lead to a more unfavorable prognosis in cancer patients (Recommended); 3) The implementation of IOCS in cancer patients is economically feasible (Recommended); 4) Leukocyte depletion filters (LDF) should be used when implementing IOCS in cancer patients (Strongly Recommended); 5) Irradiation treatment of autologous blood to be reinfused can be used when implementing IOCS in cancer patients (Recommended); 6) A careful assessment of the condition of cancer patients (meeting indications and excluding contraindications) should be conducted before implementing IOCS (Strongly Recommended); 7) Informed consent from cancer patients should be obtained when implementing IOCS, with a thorough pre-assessment of the patient's condition and the likelihood of blood loss, adherence to standardized internally audited management procedures, meeting corresponding conditions, and obtaining corresponding qualifications (Recommended). In brief, current evidence indicates that IOCS can be implemented for some malignant tumor patients who need allogeneic blood transfusion after physician full evaluation, and LDF or irradiation should be used during the implementation process.
5.Application value of machine learning models based on CT radiomics for assessing split renal function
Junjie ZOU ; Ruidong LI ; Hu SONG ; Feng WANG ; Ning DING ; Kongyuan ZHANG
Chinese Journal of Radiological Health 2025;34(1):108-113
Objective Based on the radiomics features extracted from the unenhanced CT images of the lower abdomen, a variety of machine learning models were constructed to explore their application value in the assessment of split renal function. Methods A retrospective analysis was conducted on the unenhanced CT images from 240 single kidneys in patients with clinically suspected renal dysfunction. Based on the results of single-photon emission computed tomography renal dynamic imaging, the cases were classified into the normal glomerular filtration rate group (n=118) and the decreased glomerular filtration rate group (n=122). The region of interest was outlined on the unenhanced CT images and the radiomics features were extracted. The features were selected by correlation analysis and least absolute shrinkage and selection operator, and the machine learning models were constructed based on the algorithms of decision tree, support vector machine, random forest, logistic regression, and extreme gradient boosting. Area under the receiver operating characteristic curve, accuracy, sensitivity, and specificity were calculated to compare the performance of different models. Results Sixteen radiomics features were selected for constructing the machine learning models. The support vector machine model showed relatively high performance for the assessment of split renal function on the test set, with an area under the receiver operating characteristic curve value of 0.883 (95% confidence interval: 0.804-0.961), an accuracy of 0.778, a sensitivity of 0.811, and a specificity of 0.743. Conclusion The machine learning models constructed based on unenhanced CT radiomics can be used to preliminarily assess split renal function, which provides an innovative, convenient, and safe method for clinical diagnosis and has positive significance for treatment.
6.The Ferroptosis-inducing Compounds in Triple Negative Breast Cancer
Xin-Die WANG ; Da-Li FENG ; Xiang CUI ; Su ZHOU ; Peng-Fei ZHANG ; Zhi-Qiang GAO ; Li-Li ZOU ; Jun WANG
Progress in Biochemistry and Biophysics 2025;52(4):804-819
Ferroptosis, a programmed cell death modality discovered and defined in the last decade, is primarily induced by iron-dependent lipid peroxidation. At present, it has been found that ferroptosis is involved in various physiological functions such as immune regulation, growth and development, aging, and tumor suppression. Especially its role in tumor biology has attracted extensive attention and research. Breast cancer is one of the most common female tumors, characterized by high heterogeneity and complex genetic background. Triple negative breast cancer (TNBC) is a special type of breast cancer, which lacks conventional breast cancer treatment targets and is prone to drug resistance to existing chemotherapy drugs and has a low cure rate after progression and metastasis. There is an urgent need to find new targets or develop new drugs. With the increase of studies on promoting ferroptosis in breast cancer, it has gradually attracted attention as a treatment strategy for breast cancer. Some studies have found that certain compounds and natural products can act on TNBC, promote their ferroptosis, inhibit cancer cells proliferation, enhance sensitivity to radiotherapy, and improve resistance to chemotherapy drugs. To promote the study of ferroptosis in TNBC, this article summarized and reviewed the compounds and natural products that induce ferroptosis in TNBC and their mechanisms of action. We started with the exploration of the pathways of ferroptosis, with particular attention to the System Xc--cystine-GPX4 pathway and iron metabolism. Then, a series of compounds, including sulfasalazine (SAS), metformin, and statins, were described in terms of how they interact with cells to deplete glutathione (GSH), thereby inhibiting the activity of glutathione peroxidase 4 (GPX4) and preventing the production of lipid peroxidases. The disruption of the cellular defense against oxidative stress ultimately results in the death of TNBC cells. We have also our focus to the realm of natural products, exploring the therapeutic potential of traditional Chinese medicine extracts for TNBC. These herbal extracts exhibit multi-target effects and good safety, and have shown promising capabilities in inducing ferroptosis in TNBC cells. We believe that further exploration and characterization of these natural compounds could lead to the development of a new generation of cancer therapeutics. In addition to traditional chemotherapy, we discussed the role of drug delivery systems in enhancing the efficacy and reducing the toxicity of ferroptosis inducers. Nanoparticles such as exosomes and metal-organic frameworks (MOFs) can improve the solubility and bioavailability of these compounds, thereby expanding their therapeutic potential while minimizing systemic side effects. Although preclinical data on ferroptosis inducers are relatively robust, their translation into clinical practice remains in its early stages. We also emphasize the urgent need for more in-depth and comprehensive research to understand the complex mechanisms of ferroptosis in TNBC. This is crucial for the rational design and development of clinical trials, as well as for leveraging ferroptosis to improve patient outcomes. Hoping the above summarize and review could provide references for the research and development of lead compounds for the treatment for TNBC.
7.Shenqi Dihuang Decoction Improves Renal Function in Mouse Model of Diabetic Kidney Disease by Inhibiting Arachidonic Acid-related Ferroptosis Via ACSL4/LPCAT3/ALOX15 Axis
Yuantao WU ; Zhibin WANG ; Xinying FU ; Xiaoling ZOU ; Wenxiao HU ; Yixian ZOU ; Jun FENG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(12):140-149
ObjectiveTo investigate the therapeutic effects and mechanism of Shenqi Dihuang decoction (SQDHD) on diabetic kidney disease (DKD), with a focus on its impact on arachidonic acid-related ferroptosis. MethodsSixty C57BL/6 mice were allocated into a normal group (n=10) and a modeling group (n=50), with 43 mice successfully modeled. The successfully modeled mice were further allocated into model, low-, medium-, and high-dose (4.68, 9.36, and 18.72 g·kg-1, respectively) SQDHD, and dapagliflozin (0.13 mg·kg-1) groups. The drug treatment groups were administrated with corresponding agents by gavage, and the normal and model groups were administrated with equal volumes of normal saline by gavage. An electronic balance and a glucometer were used to monitor the body weight and fasting blood glucose level from the tail tip, respectively. Serum creatinine (Scr) and blood urea nitrogen (BUN) levels were measured by enzyme-linked immunosorbent assay (ELISA). Histopathological changes in the renal tissue were assessed by hematoxylin-eosin staining, Masson staining, and periodic acid-Schiff (PAS) staining. The fluorescence intensity of reactive oxygen species (ROS) in frozen sections was observed by an inverted fluorescence microscope to evaluate the levels of ferrous ions (Fe2+) and lipid peroxidation in the renal tissue. Immunofluorescence staining of glutathione peroxidase 4 (GPX4) and acyl-CoA synthetase long-chain family member 4 (ACSL4) in the renal tissue was performed to detect their localization and expression. Western blot was employed to assess the expression levels of key ferroptosis proteins such as GPX4 and cystine/glutamate antiporter (xCT), as well as the arachidonic acid metabolic pathway-related proteins, including ACSL4, lysophosphatidylcholine acyltransferase 3 (LPCAT3), and arachidonate 15-lipoxygenase (ALOX15). Real-time PCR was employed to measure the mRNA levels of key ferroptosis proteins, including solute carrier family 7 member 11 (SLC7A11) and GPX4, as well as arachidonic acid metabolism-related factors (ACSL4, LPCAT3, and ALOX15) in the renal tissue. ResultsCompared with the normal group, DKD model mice exhibited a decrease in body weight (P<0.01), increases in levels of blood glucose (P<0.01), 24-hour urinary protein, Scr, and BUN (P<0.01), along with severe pathological changes, such as mesangial cell proliferation, basement membrane thickening, tubular atrophy, and interstitial inflammatory cell infiltration. In addition, the modeling elevated the levels of Fe2+, MDA, LPO, and ROS (P<0.01), lowered the GPX4 and xCT levels (P<0.01), raised the ACSL4, LPCAT3, and ALOX15 levels (P<0.01), down-regulated the mRNA levels of GPX4 and SLC7A11 (P<0.01), and up-regulated the mRNA levels of ACSL4, LPCAT3, and ALOX15 (P<0.01) in the renal tissue. Compared with the model group, low-, medium-, and high-dose SQDHD groups and the dapagliflozin group showed an increase in body weight (P<0.01), decreases in levels of blood glucose (P<0.01), 24-hour urinary protein, and Scr (P<0.01), alleviated pathological changes in glomeruli and tubules, and reduced degree of glomerular and tubular fibrosis. The high-dose SQDHD group and the dapagliflozin group showed reductions in Fe2+, MDA, LPO, and ROS levels (P<0.01). The medium- and high-dose SQDHD groups and the dapagliflozin group exhibited increased levels of GPX4 and xCT (P<0.01), decreased levels of ACSL4, LPCAT3, and ALOX15 (P<0.05, P<0.01), and down-regulated mRNA levels of ACSL4, LPCAT3, and ALOX15 (P<0.01). ConclusionSQDHD ameliorates DKD by inhibiting ferroptosis potentially by reducing iron ion levels, inhibiting lipid peroxidation, up-regulating GPX4 expression, and down-regulating ACSL4 expression. This study provides new insights and a theoretical basis for the treatment of DKD with traditional Chinese medicine and identifies potential targets for developing novel therapeutics for DKD.
8.Shenqi Dihuang Decoction Improves Renal Function in Mouse Model of Diabetic Kidney Disease by Inhibiting Arachidonic Acid-related Ferroptosis Via ACSL4/LPCAT3/ALOX15 Axis
Yuantao WU ; Zhibin WANG ; Xinying FU ; Xiaoling ZOU ; Wenxiao HU ; Yixian ZOU ; Jun FENG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(12):140-149
ObjectiveTo investigate the therapeutic effects and mechanism of Shenqi Dihuang decoction (SQDHD) on diabetic kidney disease (DKD), with a focus on its impact on arachidonic acid-related ferroptosis. MethodsSixty C57BL/6 mice were allocated into a normal group (n=10) and a modeling group (n=50), with 43 mice successfully modeled. The successfully modeled mice were further allocated into model, low-, medium-, and high-dose (4.68, 9.36, and 18.72 g·kg-1, respectively) SQDHD, and dapagliflozin (0.13 mg·kg-1) groups. The drug treatment groups were administrated with corresponding agents by gavage, and the normal and model groups were administrated with equal volumes of normal saline by gavage. An electronic balance and a glucometer were used to monitor the body weight and fasting blood glucose level from the tail tip, respectively. Serum creatinine (Scr) and blood urea nitrogen (BUN) levels were measured by enzyme-linked immunosorbent assay (ELISA). Histopathological changes in the renal tissue were assessed by hematoxylin-eosin staining, Masson staining, and periodic acid-Schiff (PAS) staining. The fluorescence intensity of reactive oxygen species (ROS) in frozen sections was observed by an inverted fluorescence microscope to evaluate the levels of ferrous ions (Fe2+) and lipid peroxidation in the renal tissue. Immunofluorescence staining of glutathione peroxidase 4 (GPX4) and acyl-CoA synthetase long-chain family member 4 (ACSL4) in the renal tissue was performed to detect their localization and expression. Western blot was employed to assess the expression levels of key ferroptosis proteins such as GPX4 and cystine/glutamate antiporter (xCT), as well as the arachidonic acid metabolic pathway-related proteins, including ACSL4, lysophosphatidylcholine acyltransferase 3 (LPCAT3), and arachidonate 15-lipoxygenase (ALOX15). Real-time PCR was employed to measure the mRNA levels of key ferroptosis proteins, including solute carrier family 7 member 11 (SLC7A11) and GPX4, as well as arachidonic acid metabolism-related factors (ACSL4, LPCAT3, and ALOX15) in the renal tissue. ResultsCompared with the normal group, DKD model mice exhibited a decrease in body weight (P<0.01), increases in levels of blood glucose (P<0.01), 24-hour urinary protein, Scr, and BUN (P<0.01), along with severe pathological changes, such as mesangial cell proliferation, basement membrane thickening, tubular atrophy, and interstitial inflammatory cell infiltration. In addition, the modeling elevated the levels of Fe2+, MDA, LPO, and ROS (P<0.01), lowered the GPX4 and xCT levels (P<0.01), raised the ACSL4, LPCAT3, and ALOX15 levels (P<0.01), down-regulated the mRNA levels of GPX4 and SLC7A11 (P<0.01), and up-regulated the mRNA levels of ACSL4, LPCAT3, and ALOX15 (P<0.01) in the renal tissue. Compared with the model group, low-, medium-, and high-dose SQDHD groups and the dapagliflozin group showed an increase in body weight (P<0.01), decreases in levels of blood glucose (P<0.01), 24-hour urinary protein, and Scr (P<0.01), alleviated pathological changes in glomeruli and tubules, and reduced degree of glomerular and tubular fibrosis. The high-dose SQDHD group and the dapagliflozin group showed reductions in Fe2+, MDA, LPO, and ROS levels (P<0.01). The medium- and high-dose SQDHD groups and the dapagliflozin group exhibited increased levels of GPX4 and xCT (P<0.01), decreased levels of ACSL4, LPCAT3, and ALOX15 (P<0.05, P<0.01), and down-regulated mRNA levels of ACSL4, LPCAT3, and ALOX15 (P<0.01). ConclusionSQDHD ameliorates DKD by inhibiting ferroptosis potentially by reducing iron ion levels, inhibiting lipid peroxidation, up-regulating GPX4 expression, and down-regulating ACSL4 expression. This study provides new insights and a theoretical basis for the treatment of DKD with traditional Chinese medicine and identifies potential targets for developing novel therapeutics for DKD.
9.Criteria and prognostic models for patients with hepatocellular carcinoma undergoing liver transplantation
Meng SHA ; Jun WANG ; Jie CAO ; Zhi-Hui ZOU ; Xiao-ye QU ; Zhi-feng XI ; Chuan SHEN ; Ying TONG ; Jian-jun ZHANG ; Seogsong JEONG ; Qiang XIA
Clinical and Molecular Hepatology 2025;31(Suppl):S285-S300
Hepatocellular carcinoma (HCC) is a leading cause of cancer-associated death globally. Liver transplantation (LT) has emerged as a key treatment for patients with HCC, and the Milan criteria have been adopted as the cornerstone of the selection policy. To allow more patients to benefit from LT, a number of expanded criteria have been proposed, many of which use radiologic morphological characteristics with larger and more tumors as surrogates to predict outcomes. Other groups developed indices incorporating biological variables and dynamic markers of response to locoregional treatment. These expanded selection criteria achieved satisfactory results with limited liver supplies. In addition, a number of prognostic models have been developed using clinicopathological characteristics, imaging radiomics features, genetic data, and advanced techniques such as artificial intelligence. These models could improve prognostic estimation, establish surveillance strategies, and bolster long-term outcomes in patients with HCC. In this study, we reviewed the latest findings and achievements regarding the selection criteria and post-transplant prognostic models for LT in patients with HCC.
10.A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility.
Zheng ZHOU ; Qi QI ; Wen-Hua WANG ; Jie DONG ; Juan-Juan XU ; Yu-Ming FENG ; Zhi-Chuan ZOU ; Li CHEN ; Jin-Zhao MA ; Bing YAO
Asian Journal of Andrology 2025;27(1):113-119
Primary ciliary dyskinesia (PCD) is a clinically rare, genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections, male infertility, tympanitis, and laterality abnormalities. PCD is typically resulted from variants in genes encoding assembly or structural proteins that are indispensable for the movement of motile cilia. Here, we identified a novel nonsense mutation, c.466G>T, in cilia- and flagella-associated protein 300 ( CFAP300 ) resulting in a stop codon (p.Glu156*) through whole-exome sequencing (WES). The proband had a PCD phenotype with laterality defects and immotile sperm flagella displaying a combined loss of the inner dynein arm (IDA) and outer dynein arm (ODA). Bioinformatic programs predicted that the mutation is deleterious. Successful pregnancy was achieved through intracytoplasmic sperm injection (ICSI). Our results expand the spectrum of CFAP300 variants in PCD and provide reproductive guidance for infertile couples suffering from PCD caused by them.
Adult
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Female
;
Humans
;
Male
;
Pregnancy
;
China
;
Ciliary Motility Disorders/genetics*
;
Codon, Nonsense
;
East Asian People/genetics*
;
Exome Sequencing
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Homozygote
;
Infertility, Male/genetics*
;
Kartagener Syndrome/genetics*
;
Pedigree
;
Sperm Injections, Intracytoplasmic
;
Cytoskeletal Proteins/genetics*

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