Annals of medicine最新文献

{"title":"Prognostic indicators and outcome in patients with acute liver failure, sepsis and with and without shock: a retrospective cohort study.","authors":"Dan Wang, Xin Wang, Jinsong Mu, Zhidan Kuang, Junchang Zhang, Xianghong Lu, Xuemei Wang, Fang Lin","doi":"10.1080/07853890.2024.2438833","DOIUrl":"10.1080/07853890.2024.2438833","url":null,"abstract":"<p><strong>Background: </strong>Sepsis or septic shock is associated with severe morbidity and mortality in patients with acute liver failure (ALF). This study aimed to explore the potential prognostic value of common clinical indicators in patients with ALF, sepsis and with and without shock.</p><p><strong>Patients and methods: </strong>The clinical, laboratory, and microbiological data of patients with ALF and sepsis or septic shock who were admitted to the intensive care unit from January 2014 to December 2019 were collected retrospectively. Clinical indicators, outcomes and the associations among them were analyzed and defined.</p><p><strong>Results: </strong>Of 150 patients, 64 (42.7%) and 86 (57.3%) were divided into the shock and non-shock groups, respectively. Plasma procalcitonin (PCT), C-reactive protein (CRP), and creatinine (Cre) levels, aspartate aminotransferase to alanine aminotransferase (AST/ALT) ratio, and prothrombin time (PT) in the shock group and plasma PCT and Cre levels in the non-shock group were positively correlated with 30-day, 60-day, and 90-day mortality. Furthermore, plasma ALT levels were positively correlated with 60-day and 90-day mortality, and PTA showed negative correlations with 30-day, 60-day, and 90-day mortality in both groups. Multivariate logistic regression analysis revealed that the combination of plasma PCT and CRP levels, the combination of plasma PCT and ALT levels, and the combination of plasma ALT levels and PTA were found to be associated with 90-day mortality.</p><p><strong>Conclusions: </strong>Clinical indicators, especially plasma PCT, CRP, and ALT levels, PTA, and their combinations were associated with poor outcomes in patients with ALF, sepsis and with and without shock.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2438833"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11636143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808821","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":"Development and application of an uncapped mRNA platform.","authors":"Xiaodi Zheng, Biao Liu, Peng Ni, Linkang Cai, Xiaotai Shi, Zonghuang Ke, Siqi Zhang, Bing Hu, Binfeng Yang, Yiyan Xu, Wei Long, Zhizheng Fang, Yang Wang, Wen Zhang, Yan Xu, Zhong Wang, Kai Pan, Kangping Zhou, Hanming Wang, Hui Geng, Han Hu, Binlei Liu","doi":"10.1080/07853890.2024.2437046","DOIUrl":"10.1080/07853890.2024.2437046","url":null,"abstract":"<p><strong>Background: </strong>A novel uncapped mRNA platform was developed.</p><p><strong>Methods: </strong>Five lipid nanoparticle (LNP)-encapsulated mRNA constructs were made to evaluate several aspects of our platform, including transfection efficiency and durability <i>in vitro</i> and <i>in vivo</i> and the activation of humoral and cellular immunity in several animal models. The constructs were eGFP-mRNA-LNP (for enhanced green fluorescence mRNA), Fluc-mRNA-LNP (for firefly luciferase mRNA), S^δT-mRNA-LNP (for Delta strain SARS-CoV-2 spike protein trimer mRNA), gD^ED-mRNA-LNP (for truncated glycoprotein D mRNA coding ectodomain from herpes simplex virus type 2 (HSV2)) and gD^FR-mRNA-LNP (for truncated HSV2 glycoprotein D mRNA coding amino acids 1-400).</p><p><strong>Results: </strong>Quantifiable target protein expression was achieved <i>in vitro</i> and <i>in vivo</i> with eGFP- and Fluc-mRNA-LNP. S^δT-mRNA-LNP, gD^ED-mRNA-LNP and gD^FR-mRNA-LNP induced both humoral and cellular immune responses comparable to those obtained by previously reported capped mRNA-LNP constructs. Notably, S^δT-mRNA-LNP elicited neutralizing antibodies in hamsters against the Omicron and Delta strains. Additionally, gD^ED-mRNA-LNP and gD^FR-mRNA-LNP induced potent neutralizing antibodies in rabbits and mice. The mRNA constructs with uridine triphosphate (UTP) outperformed those with N1-methylpseudouridine triphosphate (N1mψTP) in the induction of antibodies via S^δT-mRNA-LNP.</p><p><strong>Conclusions: </strong>Our uncapped, process-simplified and economical mRNA platform may have broad utility in vaccines and protein replacement drugs.KEY MESSAGESThe mRNA platform described in our paper uses internal ribosome entry site (IRES) (Rapid, Amplified, Capless and Economical, RACE; Register as BH-RACE platform) instead of caps and uridine triphosphate (UTP) instead of N1-methylpseudouridine triphosphate (N1mψTP) to synthesize mRNA.Through the self-developed packaging instrument and lipid nanoparticle (LNP) delivery system, mRNA can be expressed in cells more efficiently, quickly and economically.Particularly exciting is that potent neutralizing antibodies against Delta and Omicron real viruses were induced with the new coronavirus S protein mRNA vaccine from the BH-RACE platform.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2437046"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11632943/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796727","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":"The clinical value of Delphian and pre-tracheal lymph nodes in predicting lateral lymph nodes metastasis of papillary thyroid carcinoma.","authors":"Chun Huang, Jing Zhou, Yuchen Zhuang, Tao Xu, Xinliang Su","doi":"10.1080/07853890.2024.2444551","DOIUrl":"https://doi.org/10.1080/07853890.2024.2444551","url":null,"abstract":"<p><strong>Background: </strong>Occult lymph node metastasis of papillary thyroid carcinoma is common. However, whether undergoing prophylactic lateral lymph node dissections is still controversial. This cross-sectional study with large cohort of patients aims to investigate the clinical value of Delphian and pre-tracheal lymph node in predicting lateral lymph node metastasis of papillary thyroid carcinoma.</p><p><strong>Materials and methods: </strong>A retrospective analysis was conducted on 865 papillary thyroid carcinoma patients with Delphian and pre-tracheal lymph node data who underwent thyroidectomy plus central and lateral lymph node dissection. Data on clinicopathological characteristics were collected. Subsequently, a predictive model was established based on the results of the univariate and multivariate analyses.</p><p><strong>Results: </strong>The rates of Delphian and pre-tracheal lymph node metastasis and lateral lymph node metastasis were 54.7% and 39.1%, respectively. Having ≥ 3 or 1-2 Delphian and pre-tracheal lymph node metastasis dramatically increased the risk of lateral lymph node metastasis (OR = 8.5, 95% CI 5.3-13.4 and OR = 3.9, 95% CI 2.7-5.7, respectively). The upper tumour had a 3.7 times higher risk of lateral lymph node metastasis than other locations. Patients ≤ 42 years or tumour size >8 mm had a higher risk of lateral lymph node metastasis.</p><p><strong>Conclusions: </strong>Delphian and pre-tracheal lymph node metastasis was associated positively with the risk of lateral lymph node metastasis. For patients without clinical lateral lymph node metastasis, the Delphian and pre-tracheal lymph node could be considered to harvest as the first step in a thyroidectomy to facilitate further conduct of the operation.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2444551"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142866601","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}

{"title":"Maternal group B <i>Streptococcus</i> decreases infant length and alters the early-life microbiome: a prospective cohort study.","authors":"Shanshan Li, Qijun Liang, Wei Qing, Zhencheng Fang, Chunlei Yuan, Shilei Pan, Hairui Xie, Xiaocong Li, Muxuan Chen, Yan He, Hongwei Zhou, Qian Wang","doi":"10.1080/07853890.2024.2442070","DOIUrl":"10.1080/07853890.2024.2442070","url":null,"abstract":"<p><strong>Background: </strong>Maternal colonization with Group B Streptococcus (GBS) disrupts the vaginal microbiota, potentially affecting infant microbiota assembly and growth. While the gut microbiota's importance in infant growth is recognized, the specific effects of maternal GBS on growth remain unclear. This study aimed to explore the effects of maternal vaginal GBS during pregnancy on early infant growth, microbiome, and metabolomics.</p><p><strong>Methods: </strong>We recruited and classified 453 pregnant women from southern China into GBS or healthy groups based on GBS vaginal colonization. Their infants were categorized as GBS-exposed or GBS-unexposed groups. We comprehensively analyzed infant growth, gut microbiota, and metabolites during early life, along with maternal vaginal microbiota during pregnancy, using 16S rDNA sequencing and targeted metabolomics.</p><p><strong>Results: </strong>GBS-exposed infants exhibited lower length-for-age z-scores (LAZ) than GBS-unexposed infants, especially at 2 months. Altered gut microbiota and metabolites in GBS-exposed infants correlated with growth, mediating the impact of maternal GBS on infant LAZ. Changes in the vaginal microbiota of the GBS group during the third trimester correlated with infant LAZ. Additionally, differences in neonatal gut microbiota, metabolites, and vaginal microbiota during pregnancy were identified between infants with overall LAZ<-1 within 8 months after birth and their counterparts, enhancing the discriminatory power of fundamental data for predicting the occurrence of LAZ<-1 during the first 8 months of life.</p><p><strong>Conclusions: </strong>GBS exposure is associated with decreased infant length growth, with altered microbiota and metabolites potentially mediating the effects of maternal GBS on offspring length growth, offering potential targets for predicting and addressing growth impairment.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2442070"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11656753/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848609","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":"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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11648136/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824832","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":"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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11648131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824855","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":"Serum free light chain level-based and non-fixed cycle daratumumab treatment strategy for patients with light chain amyloidosis.","authors":"Zhen Li, Jinzhou Guo, Wencui Chen, Liang Zhao, Guisheng Ren, Xianghua Huang","doi":"10.1080/07853890.2024.2442075","DOIUrl":"10.1080/07853890.2024.2442075","url":null,"abstract":"<p><strong>Background: </strong>In recent years, daratumumab (DARA) has gained widespread use in the treatment of systemic light chain (AL) amyloidosis. In this study, we assessed the efficacy and safety of a DARA treatment strategy based on serum free light chain (sFLC) levels and non-fixed cycles.</p><p><strong>Methods: </strong>The study included 123 patients with Al amyloidosis who received DARA at our center between July 2020 and September 2023. All patients received the standard DARA treatment (16 mg/kg weekly for four weeks) during the first course. Subsequent treatments were adjusted based on sFLC levels and the physician's judgment.</p><p><strong>Results: </strong>The results demonstrated an impressive overall hematologic response rate (ORR) of 94.3%, with a hematologic very good partial response (VGPR) and complete response (CR) rate of 84.5%. Median time to best hematologic response was 1 months. Cardiac and renal response rates were 39.3% and 60.3%, respectively. Thirty patients experienced grade 1/2 infusion-related reactions after the first infusion. The rate of grade 3/4 adverse events was 21%. The most common adverse events of grade 3 or 4 were pulmonary infection (6.5%), neutropenia and lymphocytopenia (5.7%), elevated transaminases (1.6%), acute kidney injury (1.6%). After a median follow-up of 13 months (range 1-38), The 1-year OS and PFS estimates were 96.5% and 84.4%, respectively.</p><p><strong>Conclusion: </strong>These findings indicate that the sFLC levels based and non-fixed cycle DARA strategy is an efficacious and safe treatment strategy in both newly diagnosed and relapsed/refractory AL amyloidosis.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2442075"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11660285/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142857014","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":"Severe interstitial lung disease risk prediction in anti-melanoma differentiation-associated protein 5 positive dermatomyositis: the STRAD-Ro52 model.","authors":"Fei Xiao, Feilong Chen, DongSheng Li, Songyuan Zheng, Xiao Liang, Juan Wu, JunYuan Zhong, Xiangliang Tan, Rui Chen, Junqing Zhu, Shixian Chen, Juan Li","doi":"10.1080/07853890.2024.2440621","DOIUrl":"10.1080/07853890.2024.2440621","url":null,"abstract":"<p><strong>Objective: </strong>Anti-melanoma differentiation-associated gene 5-positive dermatomyositis-associated interstitial lung disease (MDA5⁺DM-ILD) often leads to acute respiratory failure and endangers lives. This study quantitatively analysed chest high-resolution computed tomography (HRCT) images to assess MDA5⁺DM-ILD and establish a risk prediction model for severe ILD within six months.</p><p><strong>Methods: </strong>We developed a 'Standardized Threshold Ratio Analysis & Distribution' (STRAD) to analyse lung HRCT images. In this retrospective study, 51 patients with MDA5⁺DM-ILD were included and divided into severe-ILD and non-severe-ILD groups based on the occurrence of acute respiratory failure within six months post-diagnosis of MDA5⁺DM. The STRAD parameters, clinical indicators and treatments were compared between the two groups. Least absolute shrinkage and selection operator (LASSO) regression was used to select the optimal STRAD parameters. Multivariate analysis selected clinical factors to be further combined with STRAD to enhance the predictive performance of the final model (STRAD-Ro52 model).</p><p><strong>Results: </strong>Significant differences were observed between the two groups in STRAD parameters, anti-Ro52 antibody titers, presence of anti-Ro52 antibodies, age, ESR, ALB, Pa/FiO₂, IgM and IL-4 levels. The STRAD parameters were significantly correlated with demographic, inflammatory, organ function and immunological indicators. Lasso logistic regression analysis identified the -699 to -650 HU lung tissue proportion (%V7) as the optimal parameter for predicting severe ILD and S6·%V7, and the distribution of %V7 in the mid lungs was the optimal space parameter. Multifactorial regression of clinical indicators showed that the presence of anti-Ro52 antibodies was an independent risk factor for severe ILD, leading to the establishment of the STRAD-Ro52 model.</p><p><strong>Conclusions: </strong>The STRAD-Ro52 model assists in identifying MDA5⁺DM patients at risk of developing severe ILD within six months, further optimizing precise disease management and clinical research design.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2440621"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11660418/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142857024","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":"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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11648137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824867","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":"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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11650706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142831194","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}