{"title":"Optic disc changes in Chinese patients with <i>NLRP3</i>-associated autoinflammatory disease.","authors":"Yuezhu Lu, Min Shen, Zhikun Yang, Xiao Zhang, Donghui Li, Zhangwanyu Wei, Bing Li, Xufeng Zhao, Na Wu, Bingxuan Wu, Weihong Yu, Yong Zhong","doi":"10.1080/07853890.2024.2438842","DOIUrl":"https://doi.org/10.1080/07853890.2024.2438842","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the optic disc changes (ODC) in Chinese patients with <i>NLRP3</i>-associated autoinflammatory disease (<i>NLRP3</i>-AID).</p><p><strong>Methods: </strong>Patients who were diagnosed with <i>NLRP3</i>-AID at the Department of Rheumatology, Peking Union Medical College Hospital between April 2015 and December 2022 were retrospectively reviewed and analyzed.</p><p><strong>Results: </strong>A total of 20 patients were enrolled in this retrospective study. All 20 patients had a moderate MWS <i>NLRP3</i>-AID phenotype. Thirteen patients (65%) had ocular involvements. The interval between symptoms onset and diagnosis was significantly longer in patients with ocular involvement than in patients without (<i>p</i> = 0.044). The incidence of hearing loss was significantly higher in patients with ocular involvement (<i>p</i> = 0.017), while the incidence of abdominal pain was significantly lower when compared to patients without ocular involvement (<i>p</i> = 0.007). Optic disc swelling (ODS) (50%) was the most common ODC. All of the four T348M mutation carriers within our cohort exhibited ODS with visual-field defects. There was a significant difference between patients with/without ODS regarding the number of patients carrying T348M mutation (<i>p</i> = 0.014). The occurrence of hearing loss and CNS involvement was significantly higher in the group with ODS compared to the group without (<i>p</i> = 0.0014, <i>p</i> = 0.0198). Of the eight patients who underwent lumbar puncture, five presented with intracranial hypertension (IH). ODS was observed in all patients with IH. The serum inflammatory markers were significantly higher in patients with ODS than in those without. Two patients receiving regular subcutaneous IL-1 inhibitor treatment showed improvements in ODC.</p><p><strong>Conclusions: </strong>ODC is common among Chinese patients with NLRP3-AID, with ODS being the most common manifestation. Hearing loss and CNS involvement often accompany the occurrence of ODS. The serum inflammatory markers are associated with ODS. The T348M mutation is more likely to lead to ODC with visual-field defects.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2438842"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human FertilityPub Date : 2025-12-01Epub Date: 2024-12-16DOI: 10.1080/14647273.2024.2441825
Michael B Yakass, Bryan J Woodward
{"title":"Mpox in assisted conception: should we be worried about this monkey wrench?","authors":"Michael B Yakass, Bryan J Woodward","doi":"10.1080/14647273.2024.2441825","DOIUrl":"https://doi.org/10.1080/14647273.2024.2441825","url":null,"abstract":"<p><p>Following reports of mpox infections in Europe and the Americas, the World Health Organisation has declared that mpox constitutes a public health emergency of international concern. Since the mpox virus (MPXV) has been detected in semen of MPX-infected men, this puts healthcare professionals in medically assisted reproduction clinics, such as clinical embryologists and andrologists, at risk of MPX infection by handling semen from infected men. This commentary provides information about MPXV and highlights vigilance steps with regards to processing semen, oocytes, pre-implantation embryos and pregnancies of MPXV infected persons.</p>","PeriodicalId":13006,"journal":{"name":"Human Fertility","volume":"28 1","pages":"2441825"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Annals of medicinePub Date : 2025-12-01Epub Date: 2024-12-13DOI: 10.1080/07853890.2024.2441517
Zheng Feng, Yongquan Chang, Xingyi Jin, Weidong Yu, Chao Fu
{"title":"Clinical features and endovascular treatment of ruptured peripheral cerebral aneurysms associated with moyamoya disease: an 8-year single-center experience.","authors":"Zheng Feng, Yongquan Chang, Xingyi Jin, Weidong Yu, Chao Fu","doi":"10.1080/07853890.2024.2441517","DOIUrl":"https://doi.org/10.1080/07853890.2024.2441517","url":null,"abstract":"<p><strong>Objective: </strong>Ruptured peripheral cerebral aneurysm (PPCA) associated with moyamoya disease (MMD) is rarely reported, and its optimal treatment remains controversial. This study aims to present the clinical characteristics, treatment strategies, and outcome predictors of this rare clinical entity.</p><p><strong>Methods: </strong>A retrospective review of patients with hemorrhagic MMD from January 2013 to December 2020 was performed. All medical records were independently compiled and reviewed.</p><p><strong>Results: </strong>Twenty-three patients were identified, 56.5% of whom were female. The mean age was 45.9 years with a peak age of onset of 51-60 years. Most patients (65.2%) developed intraventricular hemorrhage with or without intracerebral hemorrhage. These aneurysms were frequently located on the anterior (26.1%) and posterior (43.5%) choroidal arteries. Sixteen (69.6%) aneurysms were embolized and the remaining 7 (30.4%) were managed conservatively due to approach inaccessibility. Good outcomes were achieved in 82.6% of all cases, with 81.3% for embolization and 85.7% for observation. Complete occlusion was observed in all 16 aneurysms embolized. Of the conservatively treated aneurysms, 1 (14.3%) re-ruptured, 1 (14.3%) decreased in size, 2 (28.6%) disappeared, and 3 (42.8%) remained stable in size. Aneurysm rebleeding was associated with an unfavorable outcome (<i>P</i> = 0.026).</p><p><strong>Conclusions: </strong>PPCA should be considered in the differential diagnosis of hemorrhagic MMD. Aneurysm rebleeding appears to be a potential predictor of poor outcome and therefore aggressive intervention should be advocated. Endovascular embolization may be safe and feasible, and conservative observation should be carefully chosen given the high risk of aneurysm re-rupture.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2441517"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Expert Review of VaccinesPub Date : 2025-12-01Epub Date: 2024-12-15DOI: 10.1080/14760584.2024.2438759
Eugenia Karamousouli, Ugne Sabale, Stefano Valente, Fanut Morosan, Maria Heuser, Olivia Dodd, Danielle Riley, Louise Heron, Giovanna Elisa Calabrò, Theodoros Agorastos, Paul Sevelda, Zoárd Tibor Krasznai, Shay Nahum, Rune Horby
{"title":"Readiness assessment for cervical cancer elimination and prevention of human papillomavirus (HPV)-related cancers in Europe - are we winning the RACE?","authors":"Eugenia Karamousouli, Ugne Sabale, Stefano Valente, Fanut Morosan, Maria Heuser, Olivia Dodd, Danielle Riley, Louise Heron, Giovanna Elisa Calabrò, Theodoros Agorastos, Paul Sevelda, Zoárd Tibor Krasznai, Shay Nahum, Rune Horby","doi":"10.1080/14760584.2024.2438759","DOIUrl":"10.1080/14760584.2024.2438759","url":null,"abstract":"<p><strong>Introduction: </strong>To address the cervical cancer burden globally, the World Health Organization and European Union released strategies to facilitate HPV-related cancers prevention, including cervical cancer elimination. This research assessed European country level readiness to achieve cervical cancer elimination by adhering to such strategies.</p><p><strong>Areas covered: </strong>Readiness for cervical cancer elimination was assessed across a range of guiding questions relevant to three defined key domains: vaccination, screening, and treatment, each with two sub-domains focusing on decision making and implementation efforts. Publicly available data sources were used to inform the scoring across domains, to tier countries into either high, moderate-high, moderate-low, and low readiness archetypes.Key parameters identified associated with the high readiness archetype were high vaccination coverage rates (>70%), availability of gender neutral and catch-up vaccination, school-based vaccination availability, organized screening programs, use of HPV DNA primary screening tests, and data surveillance.</p><p><strong>Expert opinion: </strong>Our analysis highlights significant variability in decision making and implementation of vaccination, screening, and treatment programmes across Europe. Country scores expose the need for a multifaceted approach to achieve cervical cancer elimination in Europe, encompassing solid decision making commitments, implementation of these commitments, and the ability to collect, surveil, and apply the data use accurately.</p>","PeriodicalId":12326,"journal":{"name":"Expert Review of Vaccines","volume":" ","pages":"11-26"},"PeriodicalIF":5.5,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142817315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Annals of medicinePub Date : 2025-12-01Epub Date: 2024-12-16DOI: 10.1080/07853890.2024.2440130
Li Peng, Lili Zhong, Rong Hu, Lei Cui, Silan Liu, Han Huang, Xiaofang Ding, Min Chen, Lin Lin
{"title":"Low-dose heparin sodium as a protective factor against bronchiolitis obliterans formation after adenovirus infection.","authors":"Li Peng, Lili Zhong, Rong Hu, Lei Cui, Silan Liu, Han Huang, Xiaofang Ding, Min Chen, Lin Lin","doi":"10.1080/07853890.2024.2440130","DOIUrl":"https://doi.org/10.1080/07853890.2024.2440130","url":null,"abstract":"<p><strong>Background: </strong>Adenovirus (ADV) pneumonia in children is a significant contributor to the occurrence of post-infectious bronchiolitis obliterans (BO). Heparin sodium has known anti-inflammatory, immunomodulatory, and tissue repair properties. However, its role in treating BO after ADV infection remains unclear.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 793 children diagnosed with ADV pneumonia and hospitalized in the southern region from January 2019 to December 2019. Among them, 307 cases were classified as single ADV pneumonia. We utilized directed acyclic graphs to analyze the causal relationships between various variables, which further helped us identify the independent and confounding variables for constructing our regression model. Propensity score matching (PSM) was also employed to control for confounding variables that could not be intervened in this study, ensuring baseline level equilibrium and correction. We utilized univariate logistic regression analysis to explore the factors influencing BO development after ADV pneumonia.</p><p><strong>Results: </strong>Among the 793 children diagnosed with ADV pneumonia, 86 cases (10.84%) progressed to BO. The proportion of heparin use was higher in the non-BO group than in the BO group after PSM. The univariate regression analysis revealed that acute respiratory failure, neurological involvement and fibrinogen (FIB) were risk factors for the development of BO in ADV pneumonia cases (OR > 1, <i>p</i> < 0.05), but low-dose heparin sodium treatment and hemoglobin (OR < 1, <i>p</i> < 0.05) exhibited protective effects against BO formation. Among the 307 children with single ADV pneumonia (excluding confounding factors), 33 cases (10.75%) developed BO. The univariate regression analysis further indicated that fever duration, acute respiratory failure and FIB were risk factors for the development of BO in single ADV pneumonia (OR > 1, <i>p</i> < 0.05), while low-dose heparin sodium treatment (OR < 1, <i>p</i> < 0.05) was protective against BO formation after a single ADV pneumonia.</p><p><strong>Conclusion: </strong>Low-dose heparin sodium treatment may be a protective factor against the development of BO after ADV pneumonia infection.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2440130"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142831194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shubhada K Chothe, Surabhi Srinivas, Sougat Misra, Noel Chandan Nallipogu, Elizabeth Gilbride, Lindsey LaBella, Swastidipa Mukherjee, Christian H Gauthier, Heidi L Pecoraro, Brett T Webb, James M Pipas, Santhamani Ramasamy, Suresh V Kuchipudi
{"title":"Marked neurotropism and potential adaptation of H5N1 clade 2.3.4.4.b virus in naturally infected domestic cats.","authors":"Shubhada K Chothe, Surabhi Srinivas, Sougat Misra, Noel Chandan Nallipogu, Elizabeth Gilbride, Lindsey LaBella, Swastidipa Mukherjee, Christian H Gauthier, Heidi L Pecoraro, Brett T Webb, James M Pipas, Santhamani Ramasamy, Suresh V Kuchipudi","doi":"10.1080/22221751.2024.2440498","DOIUrl":"10.1080/22221751.2024.2440498","url":null,"abstract":"<p><p>In April 2024, ten cats died in a rural South Dakota (SD) residence, showing respiratory and neurological symptoms. Necropsy and laboratory testing of two cats confirmed H5N1 clade 2.3.4.4b infection. The viral genome sequences are closely related to recent SD cattle H5N1 sequences. Cat H5N1 genomes had unique mutations, including T143A in haemagglutinin, known to affect infectivity and immune evasion, and two novel mutations in PA protein (F314L, L342Q) that may affect polymerase activity and virulence, suggesting potential virus adaptation. Dead cats showed systemic infection with lesions and viral antigens in multiple organs. Higher viral RNA and antigen in the brain indicated pronounced neurotropism. Lectin-histochemistry revealed widespread co-expression of sialic acid α-2,6 and α-2,3 receptors, suggesting cats could serve as mixing vessels for reassortment of avian and mammalian influenza viruses. No differences in clade 2.2 or 2.3.4.4b H5 pseudoviruses binding to cat lung/brain tissues indicated the neurotropism is unlikely mediated by receptor binding affinity.</p>","PeriodicalId":11602,"journal":{"name":"Emerging Microbes & Infections","volume":" ","pages":"2440498"},"PeriodicalIF":8.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
mAbsPub Date : 2025-12-01Epub Date: 2024-12-16DOI: 10.1080/19420862.2024.2440578
Nils O'Brien, Joerg P J Mueller, Ann-Marie E Bröske, Jan Attig, Franz Osl, Cylia Crisand, Ann-Katrin Wolf, Richard Rae, Stefanie Lechner, Thomas Pöschinger, Christian Klein, Pablo Umaña, Sara Colombetti, Andreas Beilhack, Jan Eckmann
{"title":"T cell margination: investigating the detour of T cells following forimtamig treatment in humanized mice.","authors":"Nils O'Brien, Joerg P J Mueller, Ann-Marie E Bröske, Jan Attig, Franz Osl, Cylia Crisand, Ann-Katrin Wolf, Richard Rae, Stefanie Lechner, Thomas Pöschinger, Christian Klein, Pablo Umaña, Sara Colombetti, Andreas Beilhack, Jan Eckmann","doi":"10.1080/19420862.2024.2440578","DOIUrl":"https://doi.org/10.1080/19420862.2024.2440578","url":null,"abstract":"<p><p>T cell bispecific antibodies (TCBs) are a promising new class of therapeutics for relapsed/refractory multiple myeloma. A frequently observed, yet incompletely understood effect of this treatment is the transient reduction of circulating T cell counts, also known as T cell margination (TCM). After administration of the GPRC5D-targeting TCB forimtamig (RG6234), TCM occurred in patients and correlated with cytokine release and soluble B cell maturation antigen decrease. We demonstrate that TCM is accurately represented in the humanized NSG mouse model and occurs at a lower threshold of target expression than systemic cytokine release. Application of whole-mouse tissue clearing and 3D imaging revealed that T cells accumulate in the bone marrow after treatment. We hypothesize that low amounts of targets are sufficient to rapidly redirect T cells upon TCB engagement. Therefore, we propose TCM as a beneficial, highly sensitive and early effect of forimtamig that leads T cells to likely sites of bone marrow tumor lesions.</p>","PeriodicalId":18206,"journal":{"name":"mAbs","volume":"17 1","pages":"2440578"},"PeriodicalIF":5.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142837183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gut MicrobesPub Date : 2025-12-01Epub Date: 2024-12-17DOI: 10.1080/19490976.2024.2443107
Hongmin Sun, Lingyan Jiang, Jingnan Chen, Chenbo Kang, Jun Yan, Shuai Ma, Mengjie Zhao, Houliang Guo, Bin Yang
{"title":"Genomic island-encoded LmiA regulates acid resistance and biofilm formation in enterohemorrhagic <i>Escherichia coli</i> O157:H7.","authors":"Hongmin Sun, Lingyan Jiang, Jingnan Chen, Chenbo Kang, Jun Yan, Shuai Ma, Mengjie Zhao, Houliang Guo, Bin Yang","doi":"10.1080/19490976.2024.2443107","DOIUrl":"https://doi.org/10.1080/19490976.2024.2443107","url":null,"abstract":"<p><p>Enterohemorrhagic <i>Escherichia coli</i> (EHEC) O157:H7 is an important intestinal pathogen that causes severe foodborne diseases. We previously demonstrated that the genomic island-encoded regulator LmiA activates the locus of enterocyte effacement (LEE) genes to promote EHEC O157:H7 adherence and colonization in the host intestine. However, whether LmiA is involved in the regulation of any other biological processes in EHEC O157:H7 remains largely unexplored. Here, we compared global gene expression differences between the EHEC O157:H7 wild-type strain and an <i>lmiA</i> mutant strain using RNA-seq technology. Genes whose expression was affected by LmiA were identified and classified using the Cluster of Orthologous Groups (COG) database. Specifically, the expression of acid resistance genes (including <i>gadA</i>, <i>gadB</i>, and <i>gadC</i>) was significantly downregulated, whereas the transcript levels of biofilm-related genes (including <i>Z_RS00105</i>, <i>yadN</i>, <i>Z_RS03020</i>, and <i>fdeC</i>) were increased, in the Δ<i>lmiA</i> mutant compared to the EHEC O157:H7 wild-type strain. Further investigation revealed that LmiA enhanced the acid resistance of EHEC O157:H7 by directly activating the transcription of <i>gadA</i> and <i>gadBC</i>. In contrast, LmiA reduced EHEC O157:H7 biofilm formation by indirectly repressing the expression of biofilm-related genes. Furthermore, LmiA-mediated regulation of acid resistance and biofilm formation is highly conserved and widespread among EHEC and enteropathogenic <i>E. coli</i> (EPEC). Our findings provide essential insight into the regulatory function of LmiA in EHEC O157:H7, particularly its role in regulating acid resistance and biofilm formation.</p>","PeriodicalId":12909,"journal":{"name":"Gut Microbes","volume":"17 1","pages":"2443107"},"PeriodicalIF":12.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gut MicrobesPub Date : 2025-12-01Epub Date: 2024-12-17DOI: 10.1080/19490976.2024.2437247
Xuan-Qi Zheng, Ding-Ben Wang, Yi-Rong Jiang, Chun-Li Song
{"title":"Gut microbiota and microbial metabolites for osteoporosis.","authors":"Xuan-Qi Zheng, Ding-Ben Wang, Yi-Rong Jiang, Chun-Li Song","doi":"10.1080/19490976.2024.2437247","DOIUrl":"10.1080/19490976.2024.2437247","url":null,"abstract":"<p><p>Osteoporosis is an age-related bone metabolic disease. As an essential endocrine organ, the skeletal system is intricately connected with extraosseous organs. The crosstalk between bones and other organs supports this view. In recent years, the link between the gut microecology and bone metabolism has become an important research topic, both in preclinical studies and in clinical trials. Many studies have shown that skeletal changes are accompanied by changes in the composition and structure of the gut microbiota (GM). At the same time, natural or artificial interventions targeting the GM can subsequently affect bone metabolism. Moreover, microbiome-related metabolites may have important effects on bone metabolism. We aim to review the relationships among the GM, microbial metabolites, and bone metabolism and to summarize the potential mechanisms involved and the theory of the gut‒bone axis. We also describe existing bottlenecks in laboratory studies, as well as existing challenges in clinical settings, and propose possible future research directions.</p>","PeriodicalId":12909,"journal":{"name":"Gut Microbes","volume":"17 1","pages":"2437247"},"PeriodicalIF":12.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.","authors":"Jiani Du, Yanling Yang, Ding Wei, Jiajun Wu, Chunping Tian, Qianqian Hu, Hongyan Bian, Chen Cheng, Xiaoyan Zhai","doi":"10.1080/07853890.2024.2440121","DOIUrl":"https://doi.org/10.1080/07853890.2024.2440121","url":null,"abstract":"<p><p><b>Background</b>: Congenital hypothyroidism (CH) is a common metabolic disorder in children that can impact growth and neurodevelopment, particularly during infancy and early childhood. DUOXA2, a DUOX maturation factor, plays a crucial role in the maturation and activation of dual oxidase DUOX2 (a member of the NADPH oxidase family). DUOX2 can correctly migrate to the plasma membrane from the endoplasmic reticulum (ER) with the help of DUOXA2, and the two proteins together form a stable complex that promotes hydrogen peroxide (H2O2) generation in the synthesis of thyroid hormones. Genetic alterations in <i>DUOXA2</i> lead to defects function of DUOX2 protein causing inherited CH.</p><p><p><b>Objectives</b>: This review discusses the relationship between DUOXA2 and CH, including the pathogenic mechanisms of CH in children caused by <i>DUOXA2</i> mutations and the possibility or promise of <i>DUOXA2</i> gene screening as a diagnostic marker for CH in the clinic.</p><p><p><b>Methods</b>: The review synthesizes current research on the biological role of DUOXA2 and DUOX2 in thyroid hormone synthesis, the molecular impact of DUOXA2 mutations, and the clinical implications of genetic screening for CH.</p><p><p><b>Results</b>: Mutations in <i>DUOXA2</i> disrupt this process of H2O2 generation in the synthesis of thyroid hormones , leading to inherited CH. Early identification through <i>DUOXA2</i> gene screening could improve diagnostic accuracy, which facilitates early intervention and personalized treatment.</p><p><p><b>Conclusions</b>: <i>DUOXA2</i> gene screening holds promise for enhancing diagnostic accuracy in CH. However, it cannot be used as a sole diagnostic indicator, and to optimize diagnostic sensitivity, it should be combined with the screening of other relevant genetic mutations and diagnostic tools. Further research is needed to refine screening protocols and explore therapeutic options.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2440121"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}