Molecular Genetics & Genomic Medicine最新文献

{"title":"Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.","authors":"Chenyang Xu, Yanbao Xiang, Xiaoling Lin, Qifan Ma, Yunzhi Xu, Huanzheng Li, Shaohua Tang, Xueqin Xu","doi":"10.1002/mgg3.70064","DOIUrl":"10.1002/mgg3.70064","url":null,"abstract":"<p><strong>Background: </strong>Although spinal muscular atrophy (SMA), hereditary hearing loss (HL), and thalassemia are common monogenic genetic diseases, the carrier frequencies and variant spectrums of these diseases show regional differences, even within China. Their carrier frequencies and variant spectrums in Southern Zhejiang, China are unclear.</p><p><strong>Methods: </strong>Saliva was collected for carrier screening and amniotic fluid, villi, and peripheral blood were collected for prenatal diagnosis. Real-time quantitative polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) were used to detect the copy number of SMN1 exon 7. PCR coupled with flow-through hybridization, MLPA, and Sanger sequencing were used to detect common genes for HL and thalassemia.</p><p><strong>Results: </strong>Common variants were detected in 15.14% (2109/13926) of the 13,926 women of reproductive age from South Zhejiang who participated in this study. The carrier frequencies of SMA, HL, and thalassemia were 2.11% (294/13926), 4.87% (678/13926), and 8.82% (1228/13926), respectively. In total, 56.47% (1117/1978) of husbands were successfully recalled. The total number of at-risk couples was 111 (111/13926, 0.80%). Further, 47 families underwent prenatal diagnosis. A total of 13 (13/13926; 0.93‰) affected pregnancies were identified.</p><p><strong>Conclusion: </strong>Our findings confirm that SMA, HL, and thalassemia are highly prevalent in Southern Zhejiang, with some regional specificity, as compared with recent large population-based surveys in China. Further, a rapid saliva sample-based non-invasive screening method was established, and its feasibility was demonstrated.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 2","pages":"e70064"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11847965/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to \"Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing\".","authors":"","doi":"10.1002/mgg3.70071","DOIUrl":"10.1002/mgg3.70071","url":null,"abstract":"","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 2","pages":"e70071"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11803453/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Functions and Implications of MicroRNAs in Premature Ovarian Insufficiency.","authors":"Hui Gao, Xi-Xia Cao, Hua Hua, Hui Zhu","doi":"10.1002/mgg3.70074","DOIUrl":"10.1002/mgg3.70074","url":null,"abstract":"<p><strong>Background: </strong>Premature ovarian insufficiency (POI) is a condition in women characterized by the premature decline of ovarian function before age 40, evident through menstrual irregularities such as amenorrhea or oligomenorrhea, elevated FSH levels exceeding 25 U/L, and a progressive decrease in estrogen levels. Despite considerable research, the exact pathogenic mechanisms underlying POI remain unclear. This study focuses on the role of microRNAs (miRNAs) in the development of POI. As critical regulators of gene expression, miRNAs may play significant roles in diagnosis and the development of innovative therapeutic approaches for POI.</p><p><strong>Methods: </strong>A comprehensive literature search was conducted on PubMed for this review. We included studies published in English up to September 2024. Our search utilized a combination of the following keywords: microRNA, premature ovarian insufficiency (POI), and premature ovarian failure (POF). Articles were filtered by title and subsequently through full-text review, selecting only those pertinent to our topics of interest and their related areas.</p><p><strong>Results: </strong>miRNAs have emerged as critical regulators in POI, mediating a range of biological processes that contribute to the disease's progression. Their involvement offers promising insights for early diagnosis, prognostic assessments, and therapeutic interventions, highlighting their potential as biomarkers and therapeutic targets.</p><p><strong>Conclusion: </strong>Elucidating miRNAs' roles in POI opens new avenues for managing the disease. By understanding how miRNAs influence the molecular mechanisms of POI, innovative strategies can be developed for diagnosis and treatment, potentially improving patient outcomes.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 2","pages":"e70074"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11831191/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant.","authors":"A M Onnekink, D C F Klatte, J E van Hooft, S H van den Berg, S M S van der Zwaan, R van Doorn, S C H Hinnen, T P Potjer, E M A Bleiker, M E van Leerdam","doi":"10.1002/mgg3.70045","DOIUrl":"10.1002/mgg3.70045","url":null,"abstract":"<p><strong>Background: </strong>Individuals with a germline CDKN2A pathogenic variant (PV) have an increased lifetime risk of melanoma and pancreatic cancer. It is unknown whether the CDKN2A PV impacts quality of life (QoL). Therefore we aimed to assess QoL and psychological distress in families affected by the PV.</p><p><strong>Methods: </strong>This cross-sectional study included confirmed carriers and those with a 50% likelihood of carrying the PV (at-risk carriers) under cancer surveillance who were invited to complete a one-time questionnaire. Both confirmed and at-risk carriers are offered skin surveillance, whereas only confirmed carriers aged 40 years or older can participate in pancreatic surveillance.</p><p><strong>Results: </strong>In total, 59/247 (24%) individuals under skin surveillance only (skin surveillance group) and 188/290 (65%) individuals under both skin and pancreatic cancer surveillance (pancreatic surveillance group) responded. In both surveillance groups, health-related QoL and general distress levels were within the general population norms. However, more than 40% of all study participants reported melanoma-related distress. Pancreatic cancer-related distress was experienced by 45% of the pancreatic surveillance group. Determinants of cancer-related distress were a first-degree relative with melanoma or pancreatic cancer, increased cancer risk perception, and poor general health perception. Over 80% of the participants felt that the benefits of cancer surveillance outweigh the disadvantages.</p><p><strong>Conclusion: </strong>In conclusion, confirmed and at-risk carriers of the CDKN2A PV under cancer surveillance experienced similar levels of QoL and general distress compared to the general population. However, cancer-related worry was substantial in this population. These findings can help identify individuals who may benefit from psychological support.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 2","pages":"e70045"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11815477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review.","authors":"Dan Chen, Li Zhang, Jing Rao, Yan Zhou, Lujun Dai, Songsong Huang, Chunxia Yang, Qiuhan Bian, Tao Zhang, Xiaoyan Yang","doi":"10.1002/mgg3.70053","DOIUrl":"10.1002/mgg3.70053","url":null,"abstract":"<p><strong>Background: </strong>Alport syndrome involves chronic progressive kidney failure and extrarenal organ damage caused by COL4A3, COL4A4, and COL4A5 mutations.</p><p><strong>Methods: </strong>We initially discerned a COL4A3 splicing mutation via next-generation sequencing. Next, we used bioinformatics, renal biopsy pathology, and an in vitro minigene experiment. Complementary analysis of clinical data was carried out, and we explored the expression and function of the variants to verify their pathogenicity.</p><p><strong>Results: </strong>A splicing mutation (c.687 + 1G > T) in COL4A3 was found in a Chinese family. Bioinformatics analysis revealed its impact on splicing, causing a translational frameshift, which was confirmed by an in vitro minigene assay. The proband's glomerular basement membrane displayed reduced type IV collagen α3, α4, and α5 chains, with some absent, suggesting disruption of collagen IV trimers in the glomerular basement membrane, potentially damaging the glomerular filtration barrier.</p><p><strong>Conclusion: </strong>We present a novel finding of a previously unreported c.687 + 1G > T mutation in COL4A3 that disrupts transcription and translation, impairing α3α4α5 (IV) chain formation, altering the integrity of the glomerular basement membrane, causing hereditary Alport syndrome. This discovery enriches the genetic map of Alport syndrome, aiding in clinical genetic guidance, and enhancing the efficacy of prenatal testing.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 2","pages":"e70053"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11807844/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143382836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.","authors":"Christina Del Greco, Molly E Kuo, Desiree E C Smith, Marisa I Mendes, Gajja S Salamons, Marek Nemcovic, Rebeka Kodrikova, Sergej Sestak, Malina Stancheva, Anthony Antonellis","doi":"10.1002/mgg3.70078","DOIUrl":"10.1002/mgg3.70078","url":null,"abstract":"<p><strong>Background: </strong>Mutations in cysteinyl-tRNA synthetase (CARS1) have been implicated in a multisystem disease including microcephaly, developmental delay, and brittle hair and nail phenotypes.</p><p><strong>Methods: </strong>Here, we present a patient with hepatopathy, hypothyroidism, short stature, developmental delay, microcephaly, muscular hypotonia, brittle hair, and ataxia. The patient underwent exome sequencing to identify potentially pathogenic genetic variants. In addition, identified variants were assessed using yeast complementation assays to determine functional consequences.</p><p><strong>Results: </strong>Exome sequencing determined that the patient is compound heterozygous for p.Arg341His and p.Arg370Trp CARS1. Yeast complementation assays showed that the p.Arg341His variant has a hypomorphic effect and that the p.Arg370Trp variant causes a complete loss-of-function effect.</p><p><strong>Conclusion: </strong>This study is the second report of pathogenic CARS1 variants and expands the allelic and phenotypic heterogeneity of CARS1-associated disease.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 2","pages":"e70078"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11833167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification and Validation of Biomarkers in Metabolic Dysfunction-Associated Steatohepatitis Using Machine Learning and Bioinformatics.","authors":"Yu-Ying Zhang, Jin-E Li, Hai-Xia Zeng, Shuang Liu, Yun-Fei Luo, Peng Yu, Jian-Ping Liu","doi":"10.1002/mgg3.70063","DOIUrl":"10.1002/mgg3.70063","url":null,"abstract":"<p><strong>Background: </strong>The incidence of metabolic dysfunction-associated steatohepatitis (MASH) is increasing annually. MASH can progress to cirrhosis and hepatocellular carcinoma. However, the early diagnosis of MASH is challenging.</p><p><strong>Aim: </strong>To screen prospective biomarkers for MASH and verify their effectiveness through in vitro and in vivo experiments.</p><p><strong>Methods: </strong>Microarray datasets (GSE89632, GSE48452, and GSE63067) from the Gene Expression Omnibus database were used to identify differentially expressed genes (DEGs) between patients with MASH and healthy controls. Machine learning methods such as support vector machine recursive feature elimination and least absolute shrinkage and selection operator were utilized to identify optimum feature genes (OFGs). OFGs were validated using the GSE66676 dataset. CIBERSORT was utilized to illustrate the variations in immune cell abundance between patients with MASH and healthy controls. The correlation between OFGs and immune cell populations was evaluated. The OFGs were validated at both transcriptional and protein levels.</p><p><strong>Results: </strong>Initially, 37 DEGs were identified in patients with MASH compared with healthy controls. In the enrichment analysis, the DEGs were mainly related to inflammatory responses and immune signal-related pathways. Subsequently, using machine learning algorithms, five genes (FMO1, PEG10, TP53I3, ME1, and TRHDE) were identified as OFGs. The candidate biomarkers were validated in the testing dataset and through experiments with animal and cell models. The malic enzyme (ME1) gene (HGNC:6983) expression was significantly upregulated in MASH samples compared to controls (0.4353 ± 0.2262 vs. -0.06968 ± 0.3222, p = 0.00076). Immune infiltration analysis revealed a negative correlation between ME1 expression and plasma cells (R = -0.77, p = 0.0033).</p><p><strong>Conclusion: </strong>This study found that ME1 plays a regulatory role in early MASH, which may affect disease progression by mediating plasma cells and T cells gamma delta to regulate immune microenvironment. This finding provides a new idea for the early diagnosis, monitoring and potential therapeutic intervention of MASH.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 2","pages":"e70063"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11850758/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.","authors":"Mar Jiménez de la Peña, Sara López-Martín, Daniel Martín Fernández-Mayoralas, Ana Laura Fernández-Perrone, Ana Jiménez de Domingo, Pilar Tirado, Beatriz Calleja-Pérez, Sara Álvarez, Jacobo Albert, Alberto Fernández-Jaén","doi":"10.1002/mgg3.70070","DOIUrl":"10.1002/mgg3.70070","url":null,"abstract":"<p><strong>Background: </strong>Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.</p><p><strong>Methods and results: </strong>Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene. Brain magnetic resonance imaging (MRI) findings included corpus callosum hypoplasia, white matter hypomyelination, and alterations in the globus pallidi, alongside markedly reduced cortical thickness.</p><p><strong>Conclusions: </strong>These findings suggest that cortical atrophy may occur in the early stages of fucosidosis. Early diagnosis is imperative for genetic counseling, timely investigations, and initiating early therapeutic interventions to potentially mitigate more extensive brain involvement.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 2","pages":"e70070"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11761451/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in Ningde City, Fujian Province.","authors":"JiaoJiao Lu, Xian Zheng, Jing Yang, WenXu Dong, LuoYuan Cao, Xiaomei Zeng, Qinjuan Wu, Xunyan Chen, XianGuo Fu","doi":"10.1002/mgg3.70077","DOIUrl":"10.1002/mgg3.70077","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to screen for SMN1 (OMIM#600354) deletion carriers in 6035 pregnant women in the eastern part of Fujian Province, to provide a theoretical basis for genetic counseling and further prenatal diagnosis of the disease, and to explore the carrier frequency and clinical significance of spinal muscular atrophy (SMA) in the eastern part of Fujian Province.</p><p><strong>Methods: </strong>Pregnant women treated at the prenatal diagnosis institution of Ningde Municipal Hospital of Ningde Normal University from February 2022 to October 2023 were selected as research subjects. The exons 7 and 8 (E7 and E8) of the survival of motor neuron 1 gene (SMN1) from 6035 pregnant women were detected using real-time fluorescence quantitative PCR (qPCR). Spouses of pregnant women with positive results were recalled for gene detection, and prenatal diagnosis was performed for both partners as carriers.</p><p><strong>Results: </strong>A total of 100 SMA carriers were detected in 6035 pregnant women, including 98 with heterozygous deletions of E7 and E8 of the SMN1 gene and two with heterozygous deletions of E7 only. The carrier frequency was 1.66%. One couple was both identified as SMA carriers, and their fetus with a homozygous deletion of E7 and E8 of the SMN1 gene was finally detected by prenatal diagnosis and gene analysis.</p><p><strong>Conclusion: </strong>The frequency of SMA mutation in the Ningde area of Fujian province has been identified, which can provide the basis for genetic counseling and prenatal diagnosis. Interventional prenatal genetic diagnosis for high-risk fetuses can effectively prevent the birth of children with SMA and is crucial for preventing and controlling birth defects.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 2","pages":"e70077"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.","authors":"Yujun Sun, Jiayuan Zheng, Lei He, Xiaojuan Li, Wenzhou Liu, Jionglin Wu, Jiajie Li, Taolue Zhou, Gang Zeng, Weidong Song, Yanbo Chen","doi":"10.1002/mgg3.70065","DOIUrl":"10.1002/mgg3.70065","url":null,"abstract":"<p><strong>Background: </strong>Krabbe disease (KD; globoid cell leucodystrophy) is a rare autosomal recessive lipid storage disorder that affects the white matter of the peripheral and central nervous. Late-onset KD is less frequently diagnosed and often presents with milder symptoms, making accurate diagnosis challenging, especially when distinguishing it from peripheral neuropathy. In this report, we present two cases of late-onset KD in a Chinese family. The first case involves a 25-year-old female who sought treatment due to long-standing spastic gait and deformities in her lower limbs. A muscle biopsy revealed muscle atrophy, and electromyography indicated neurogenic damage. Her 27-year-old sister (Case 2) exhibited similar lower limb weakness, along with more severe central and peripheral neurological symptoms.</p><p><strong>Methods: </strong>The patients' peripheral blood was retained for galactocerebrosidase (GALC) enzyme activity assaying and whole exome gene sequencing.</p><p><strong>Results: </strong>GALC enzyme activity assaying showed decreased GALC activity and gene sequencing revealed homozygous mutation of p.L634S (c.1901T>C) in the two cases.</p><p><strong>Conclusion: </strong>This study broadens the scope for considering of KD in the diagnosis of patients presenting with muscle weakness and deformities in the lower limbs.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":"13 2","pages":"e70065"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11775926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143059786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}