中国当代儿科杂志最新文献

{"title":"[Expression of GATA1 in bronchial asthma and its effect on the transcription regulation of the <i>ORMDL3</i> gene].","authors":"Hu Chen, Jiao-Jiao Li, Yue Yuan, Rui Jin","doi":"10.7499/j.issn.1008-8830.2408143","DOIUrl":"10.7499/j.issn.1008-8830.2408143","url":null,"abstract":"<p><strong>Objectives: </strong>To study the expression of the transcription factor GATA1 in bronchial asthma (referred to as asthma) and its effect on the expression level of the asthma susceptibility gene orosomucoid 1-like protein 3 (ORMDL3), along with the underlying molecular mechanisms.</p><p><strong>Methods: </strong>The study included 28 cases of moderate asthma, 46 cases of severe asthma, and 12 normal controls from the Gene Expression Omnibus (GEO) database. The mRNA expression levels of GATA1 and ORMDL3 were analyzed among the asthma patients and the normal controls, including their correlation. The pGL-185/58 plasmid was co-transfected with <i>GATA1</i> gene siRNA (si-GATA1 group) and siRNA negative control (si-control group) into BEAS-2B cells. Bioinformatics methods were used to predict GATA1 binding sites in the promoter region of the <i>ORMDL3</i> gene. The dual-luciferase reporter gene system was employed to assess the promoter activity of ORMDL3, while real-time quantitative PCR and Western blotting were used to measure the mRNA and protein expression levels of GATA1 and ORMDL3. Chromatin immunoprecipitation (ChIP) assays were conducted to determine whether GATA1 binds to the promoter region of <i>ORMDL3</i>.</p><p><strong>Results: </strong>The expression levels of GATA1 and ORMDL3 mRNA were significantly higher in the severe asthma group compared to the normal control group (<i>P</i><0.001). Positive correlations were observed between GATA1 mRNA and ORMDL3 mRNA expression levels in both the moderate and severe asthma groups (<i>r</i>=0.636 and 0.341, respectively; <i>P</i><0.05). In BEAS-2B cells, the dual-luciferase reporter assay revealed that <i>ORMDL3</i> promoter luciferase activity, as well as ORMDL3 mRNA and protein expression levels, were lower in the si-GATA1 group compared to the si-control group (<i>P</i><0.05). ChIP assay results demonstrated that GATA1 could bind to the promoter region of <i>ORMDL3</i>.</p><p><strong>Conclusions: </strong>The expression of GATA1 is increased in asthma patients, which may regulate the promoter activity and expression of the asthma susceptibility gene <i>ORMDL3</i>.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"212-218"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[A systematic review of childhood cancer-related fatigue assessment tools based on the COSMIN guidelines].","authors":"Qian Zhao, Yu Wang, Lan-Zheng Bian","doi":"10.7499/j.issn.1008-8830.2408132","DOIUrl":"10.7499/j.issn.1008-8830.2408132","url":null,"abstract":"<p><strong>Objectives: </strong>To systematically review the methodological quality and measurement properties of childhood cancer-related fatigue assessment tools based on the consensus-based standards for the selection of health measurement instruments (COSMIN) guidelines, providing a basis for clinical practitioners to select appropriate assessment tools.</p><p><strong>Methods: </strong>The databases searched included China National Knowledge Infrastructure, Wanfang Data, China Biomedical Literature, Weipu, PubMed, CINAHL, Embase, and Web of Science for studies published up to January 2024. Children under 12 years old and their primary caregivers were enrolled as subjects. Articles were screened based on inclusion criteria, and the key information regarding the assessment tools was extracted. The risk of bias checklist from the COSMIN guidelines and the quality standard rating scale were employed to evaluate measurement properties and formulate final recommendations.</p><p><strong>Results: </strong>A total of 18 articles were included, covering 7 fatigue measurement tools, consisting of 4 specific tools and 3 generic tools tools. Methodological differences were observed in measurement properties across these scales. The Chinese Version of the Pediatric Patient-Reported Outcomes Measurement Information System (C-Ped-PROMIS) was rated as grade A recommendation due to its adequate content validity and internal consistency, while the remaining six scales were rated as grade B recommendation since their content validity was assessed as \"insufficient\" based on moderate-level evidence or higher.</p><p><strong>Conclusions: </strong>The C-Ped-PROMIS scale demonstrates good reliability, validity, and cross-cultural validity as the preferred tool for measuring childhood cancer-related fatigue. The scale can serve as an auxiliary tool, and future research should focus on the applicability of various tools to enhance the effectiveness of interventions for assessing childhood cancer-related fatigue.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"184-191"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Risk factors for hypoxemia in children with severe <i>Mycoplasma pneumoniae</i> pneumonia].","authors":"Yu-Jie Qin, Yu-Xia Yang, Jun-Xiang Li, Jun Guan","doi":"10.7499/j.issn.1008-8830.2408094","DOIUrl":"10.7499/j.issn.1008-8830.2408094","url":null,"abstract":"<p><strong>Objectives: </strong>To study the risk factors for hypoxemia in children with severe <i>Mycoplasma pneumoniae</i> pneumonia (SMPP).</p><p><strong>Methods: </strong>A retrospective collection of clinical data from children diagnosed with SMPP at the Third Affiliated Hospital of Zhengzhou University from June to December 2023 was conducted. The patients were categorized into hypoxemia and non-hypoxemia groups. Logistic regression analysis was used to assess the risk factors for hypoxemia, and receiver operating characteristic (ROC) curve analysis was employed to analyze the diagnostic performance of various indicators.</p><p><strong>Results: </strong>A total of 113 children with SMPP were included. Univariate logistic regression analysis showed that ferritin, aspartate aminotransferase, creatinine, creatine kinase isoenzyme, lactate dehydrogenase, alpha-hydroxybutyrate dehydrogenase, immunoglobulin G, complement C3, complement C4, age, extrapulmonary complications, and a chest computed tomography (CT) scan showing a bronchiolitis pattern were significant factors for hypoxemia in children with SMPP (<i>P</i><0.05). Multivariate logistic regression analysis revealed that elevated ferritin levels, presence of extrapulmonary complications, and a bronchiolitis pattern on lung CT were independent risk factors for hypoxemia in these patients (<i>P</i><0.05). The ROC curve analysis indicated that the combination of these three indicators for predicting hypoxemia had a sensitivity of 71.9%, a specificity of 95.1%, and an area under the curve of 0.888 (95%<i>CI</i>: 0.809-0.968).</p><p><strong>Conclusions: </strong>In children with SMPP, when there are elevated ferritin levels, a bronchiolitis pattern on chest CT, and the presence of extrapulmonary complications, there should be a high level of vigilance for the potential development of hypoxemia.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"192-198"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[A quality improvement study on improving the follow-up rate of preterm infants after discharge].","authors":"He-Sheng Chang, Xue Yang, Jun Ju, Wen-Ya Xu, Di Wu, Xiao-Man Wan, Zheng-Hong Li","doi":"10.7499/j.issn.1008-8830.2410046","DOIUrl":"10.7499/j.issn.1008-8830.2410046","url":null,"abstract":"<p><strong>Objectives: </strong>To explore the measures to improve the follow-up rate of preterm infants after discharge, and to evaluate the effectiveness of these measures using quality improvement methodology.</p><p><strong>Methods: </strong>The follow-up status of preterm infants discharged from March to May 2017 was used as the baseline before quality improvement, and a specific quality improvement goal for the follow-up rate was proposed. The Pareto chart was used to analyze the causes of follow-up failure, and a key driver diagram was constructed based on the links involved in improving follow-up rate. The causes of failure were analyzed to determine the key links and intervention measures for quality improvement, and the follow-up rate was monitored weekly using a control chart until the quality improvement goal was achieved.</p><p><strong>Results: </strong>The follow-up rate of preterm infants after discharge was 57.92% (117/202) at baseline before quality improvement, and the quality improvement goal was set to increase the follow-up rate of preterm infants from baseline to more than 80% within 12 months. The Pareto chart analysis showed that the main causes of follow-up failure were deficiencies in follow-up file management and irregular follow-up times (33.70%, 31/92), insufficient follow-up education and poor communication (25.00%, 23/92), and the inability to meet the diverse needs of parents (18.48%, 17/92). Based on the key links for quality improvement and the main causes of follow-up failure, the following intervention measures were adopted: (1) strengthen follow-up publicity and education; (2) build a follow-up team; and (3) establish a follow-up platform and system. The control chart indicated that with the implementation of the above intervention measures, the weekly follow-up rate increased to 74.09% (306/413) in July 2017 and 83.09% (511/615) in December 2017, finally achieving the quality improvement goal. During the COVID-19 pandemic, the follow-up rate of preterm infants fluctuated between 23.54% (460/1 954) and 70.97% (1 931/2 721), and subsequently, it returned to pre-pandemic levels starting in February 2023.</p><p><strong>Conclusions: </strong>The application of quality improvement methodology can help to formulate intervention measures based on the main causes of follow-up failure, thereby improving the follow-up rate of preterm infants after discharge. This quality improvement method is feasible and practical and thus holds promise for clinical application.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"148-154"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Effect of colostrum oral immune therapy on the the clinical outcomes in very low birth weight infants: a Meta analysis].","authors":"Yan Lu, Li-Li Wang, Li Wang, Ke-Ran Zhu","doi":"10.7499/j.issn.1008-8830.2406104","DOIUrl":"10.7499/j.issn.1008-8830.2406104","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the effect of colostrum oral immune therapy (COIT) on clinical outcomes in very low birth weight (VLBW) infants.</p><p><strong>Methods: </strong>A computer-based search was conducted in databases including China National Knowledge Infrastructure, Wanfang Data, Weipu Database, Chinese Biomedical Literature Service System, PubMed, Embase, Web of Science, the Cochrane Library, and CINAHL for randomized controlled trials regarding the application of COIT in VLBW infants published from the establishment of the database to February 2024. Meta analysis was performed using RevMan 5.3 software.</p><p><strong>Results: </strong>A total of 14 randomized controlled trials were included, involving 1 386 VLBW infants, with 690 in the COIT group and 696 in the control group. The results showed that COIT significantly reduced the incidence of clinical late-onset sepsis (LOS) (<i>RR</i>=0.75, 95%<i>CI</i>: 0.64-0.88, <i>P</i><0.001), the incidence of blood culture-proven LOS (<i>RR</i>=0.72, 95%<i>CI</i>: 0.57-0.92, <i>P</i>=0.008), mortality rate (<i>RR</i>=0.70, 95%<i>CI</i>: 0.52-0.95, <i>P</i>=0.020), the incidence of necrotizing enterocolitis (<i>RR</i>=0.65, 95%<i>CI</i>: 0.46-0.92, <i>P</i>=0.020), and the incidence of feeding intolerance (<i>RR</i>=0.49, 95%<i>CI</i>: 0.29-0.80, <i>P</i>=0.004). It also shortened the time to achieve full enteral nutrition (<i>MD</i>=-2.13, 95%<i>CI</i>: -4.03 to -0.23, <i>P</i>=0.030).</p><p><strong>Conclusions: </strong>COIT can reduce the incidence rates of LOS, necrotizing enterocolitis, and feeding intolerance, as well as the mortality rate, while also shortening the time to achieve full enteral nutrition in VLBW infants.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"155-164"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Combined oxidative phosphorylation deficiency type 7 caused by <i>C12orf65</i> gene mutations: a case report and literature review].","authors":"Xiao-Yi Chen, Yong-Jie Zhu, Jie Deng, Yan-Li Ma, Jun-Fang Suo, Yuan Wang, Yuan-Ning Ma","doi":"10.7499/j.issn.1008-8830.2409063","DOIUrl":"10.7499/j.issn.1008-8830.2409063","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the clinical features and gene mutation characteristics of combined oxidative phosphorylation deficiency type 7 (COXPD7) caused by mutations in the <i>C12orf65</i> gene, and to enhance the awareness of this disease.</p><p><strong>Methods: </strong>A child diagnosed with COXPD7 in the Department of Neurology, Children's Hospital Affiliated to Zhengzhou University in 2021 was included, along with 10 patients reported in the literature. All subjects were analyzed for their genotypes and clinical phenotypes.</p><p><strong>Results: </strong>A total of 11 patients with COXPD7 were included, comprising 1 reported in this study and 10 from the literature. Among the 11 patients, 9 had homozygous mutations in the <i>C12orf65</i> gene, while 2 had compound heterozygous mutations, which were identified as frameshift or nonsense mutations. The age of onset ranged from 1 day to 2 years, and clinical manifestations included optic nerve atrophy and delays in intellectual and motor development. Eight patients exhibited external ophthalmoplegia, and five patients displayed spastic paralysis. Cranial magnetic resonance imaging revealed optic nerve atrophy in all 11 patients, abnormal brainstem signals in 10 patients, and a lactate peak on brainstem magnetic resonance spectroscopy scans in 3 patients.</p><p><strong>Conclusions: </strong>COXPD7 associated with the <i>C12orf65</i> gene results from homozygous or compound heterozygous mutations, with primary clinical manifestations of optic nerve atrophy and delays in intellectual and motor development. Some patients may also present with spastic paralysis or external ophthalmoplegia. Cranial imaging reveals symmetrical abnormal signals in bilateral basal ganglia and brainstem, and a lactate peak is observed on brainstem magnetic resonance spectroscopy scans.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"205-211"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Explanation and interpretation of the compilation of blood transfusion provisions for children undergoing hematopoietic stem cell transplantation in the national health standard \"Guideline for pediatric transfusion\"].","authors":"Rong Huang, Qing-Nan He, Ming-Yan Hei, Xiao-Fan Zhu, Jun Lu, Xiao-Jun Xu, Tian-Ming Yuan, Rong Zhang, Xu Wang, Jin-Ping Liu, Jing Wang, Zhi-Li Shao, Ming-Yi Zhao, Yong-Jian Guo, Xin-Yin Wu, Jia-Rui Chen, Qi-Rong Chen, Jia Guo, Rong Gui, Ming-Hua Yang","doi":"10.7499/j.issn.1008-8830.2410094","DOIUrl":"10.7499/j.issn.1008-8830.2410094","url":null,"abstract":"<p><p>To guide clinical blood transfusion practices for pediatric patients, the National Health Commission has issued the health standard \"Guideline for pediatric transfusion\" (WS/T 795-2022). Blood transfusion for children undergoing hematopoietic stem cell transplantation is highly complex and challenging. This guideline provides recommendations on transfusion thresholds and the selection of blood components for these children. This article presents the evidence and interpretation of the transfusion provisions for children undergoing hematopoietic stem cell transplantation, with the aim of enhancing the understanding and implementation of the \"Guideline for pediatric transfusion\".</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"139-143"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Type II Leydig cell hypoplasia caused by <i>LHCGR</i> gene mutation: a case report].","authors":"Ke-Xin Jin, Zhe Su, Yan-Hua Jiao, Li-Li Pan, Xian-Ping Jiang, Jian-Chun Yin, Jia-Qiang Li","doi":"10.7499/j.issn.1008-8830.2410074","DOIUrl":"10.7499/j.issn.1008-8830.2410074","url":null,"abstract":"<p><p>The patient, assigned female at birth and aged 1 year and 7 months, presented with clinical manifestations of 46,XY disorders of sex development. The external genitalia exhibited a severely undermasculinized phenotype. Laboratory tests and gonadal biopsy indicated poor Leydig cell function and good Sertoli cell function. Genetic testing revealed compound heterozygous mutations of c.867-2A>C and c.547G>A (p.G183R) in the <i>LHCGR</i> gene. The patient was ultimately diagnosed with type II Leydig cell hypoplasia. Type II Leydig cell hypoplasia presents a broad spectrum of clinical phenotypes, characterized by a lack of parallel function between Leydig cells and Sertoli cells, and significant individual variability in spermatogenesis and gender assignment. This condition should be considered when there is poor Leydig cell function but good development of Wolffian duct derivatives.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"225-228"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Interpretation of similarities and differences in Kawasaki disease guidelines at home and abroad].","authors":"Yan Pan, Li-Jian Xie, Fu-Yong Jiao","doi":"10.7499/j.issn.1008-8830.2406041","DOIUrl":"10.7499/j.issn.1008-8830.2406041","url":null,"abstract":"<p><p>This paper comprehensively compares the Kawasaki disease (KD) guidelines from seven countries/regions, including China, Argentina, Europe, Italy, Japan, Spain, and the United States, as retrieved from the PubMed database. It analyzes the similarities and differences in KD diagnosis and treatment among these guidelines. The results show that all guidelines consistently recommend a single infusion of immunoglobulin at a dosage of 2 g/kg as the first-line treatment for KD, and none advocate for the routine use of methylprednisolone or prednisone as standalone first-line treatment options for KD. However, there are some differences among the guidelines regarding classification, diagnostic criteria, and specific treatment methods for KD. Therefore, it is essential to further strengthen international collaboration in guideline development and conduct multicenter clinical research in the future, aiming to achieve a higher level of expert consensus, thereby promoting the enhancement of KD diagnosis and treatment.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"144-147"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838023/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Research progress on phenotypic modifier genes in spinal muscular atrophy].","authors":"Wei Pan, Yan-Yan Cao","doi":"10.7499/j.issn.1008-8830.2410064","DOIUrl":"10.7499/j.issn.1008-8830.2410064","url":null,"abstract":"<p><p>Spinal muscular atrophy (SMA) is a common fatal autosomal recessive genetic disorder in childhood, primarily caused by homozygous deletion of the <i>SMN1</i> gene. Its main characteristics include the degenerative changes in the anterior horn motor neurons of the spinal cord, leading to symmetrical progressive muscle weakness and atrophy of the proximal limbs. However, SMA patients with the same genetic background often exhibit different degrees of disease severity. In addition to the well-established modifier gene <i>SMN2</i>, the effect of other modifier genes on clinical phenotypes should not be overlooked. This paper reviews the latest advancements in the pathogenic and modifier genes of SMA, aiming to provide a deeper understanding of the pathogenic mechanisms and phenotypic differences in SMA, as well as to offer new strategies and targets for treating this condition.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"229-235"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}