Orphanet Journal of Rare Diseases最新文献

{"title":"Methodology for eliciting consensus on high-level concepts in rare connective tissue and musculoskeletal diseases (ReCONNET-ELICIT).","authors":"Laurent Arnaud, Guillermo Pons-Estel, Mariele Gatto, Chiara Tani, Hervé Devilliers, Rosaria Talarico, Giuseppe Turchetti, Marta Mosca","doi":"10.1186/s13023-026-04502-3","DOIUrl":"10.1186/s13023-026-04502-3","url":null,"abstract":"<p><p>The ReCONNET-ELICIT methodology represents an innovative and systematic approach to gather expert consensus on complex, high-level concepts related to rare connective tissue and musculoskeletal diseases (rCTDs). Developed within the framework of European Reference Networks (ERNs) ReCONNET, this methodology aims to overcome the challenges associated with defining complex features that lack consensus in rCTDs, such as composite definitions for severe or refractory disease. The core premise of RECONNET-ELICIT is that individual expertise, including that of experts, is inherently limited, but that aggregating insights from a sufficiently large and diverse group can achieve extensive and relevant facet elicitation. The RECONNET-ELICIT process begins with assembling a diverse panel from various geographical backgrounds. This inclusive approach ensures that multiple perspectives are considered. The next step involves crowdsourcing responses through an online survey, where participants suggest as many facets of the high-level concept as possible. These proposals are then systematically analyzed and recoded into broader categories through a consensus-driven binning process. Following this, the panel reviews the consolidated list of facets and votes on their final inclusion, typically utilizing rating scales to minimize bias. This approach is particularly valuable in rCTD contexts where limited data are available. Overall, ReCONNET-ELICIT aim at enhancing the clarity and shared understanding of complex disease concepts by integrating expert insights within an asynchronous, structured, participatory framework while avoiding dominance bias. Its flexibility and focus on collective agreement make it especially useful for advancing knowledge and improving management strategies for rare CTDs.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13656601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148456215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Burden of respiratory syncytial virus in spinal muscular atrophy: a retrospective nationwide cross-sectional and birth cohort study.","authors":"Hao-Wei Chung, Chen-Hua Wang, Chia-Hung Yu, Chiao-Yun Huang, Fu-Wen Liang","doi":"10.1186/s13023-026-04494-0","DOIUrl":"10.1186/s13023-026-04494-0","url":null,"abstract":"<p><strong>Background: </strong>Spinal muscular atrophy (SMA) is a severe neuromuscular disease associated with a high risk of respiratory complications, yet real-world data on respiratory syncytial virus (RSV) infection in this population remain limited. This study aimed to investigate the severity, hospitalization costs, and seasonal patterns of RSV infections in patients with SMA using real-world data in Taiwan.</p><p><strong>Methods: </strong>This retrospective study analyzed data from Taiwan's National Health Insurance Research Database from 2009 to 2021. Patients with SMA were identified through at least two outpatient clinic visits and one hospital admission. The analysis included a cross-sectional study and a birth cohort analysis for sensitivity testing. RSV-associated hospitalizations were identified using diagnostic codes for RSV. The main outcomes included ICU admissions, ventilator use, hospitalization costs, timing of RSV onset, and seasonal infection trends.</p><p><strong>Results: </strong>This study documented 914 hospitalizations in patients with SMA over 13 years, including 14 RSV infections (1.5%). All RSV-related hospitalizations were documented before age 18. In a birth cohort analysis comparing 110 patients with SMA to 2,103,997 individuals from the general population, patients with SMA demonstrated significantly higher RSV hospitalization rates (9.8% vs. 1.6%), ICU admissions (54.5% vs. 4.7%; p < 0.0001), and ventilator use (54.5% vs. 1.7%; p < 0.0001), with a later mean onset (2.54 ± 2.05 years vs. 1.05 ± 1.05 years; p = 0.0073) and substantially higher hospitalization costs (median 967 [560-6,462] USD vs. 683 [487-1002] USD; p = 0.0480). Infections peaked in fall and winter (72.7%) for patients with SMA. ICU admission rates for RSV increased with age and decreased with later SMA onset.</p><p><strong>Conclusions: </strong>Patients with SMA are at heightened risk for severe RSV infections even beyond infancy, underscoring the need for age-specific and seasonal prevention strategies, particularly for those over two years old.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13647703/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148448712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical, pathological, and genetic characteristics of 23 DMD patients in northern China.","authors":"Yi Bu, Jingzhe Han, Jinliang Deng, Pingping Fang, Di An, Guang Ji, Shaojuan Ma, Xueqin Song","doi":"10.1186/s13023-026-04488-y","DOIUrl":"10.1186/s13023-026-04488-y","url":null,"abstract":"<p><strong>Background: </strong>Duchenne muscular dystrophy (DMD) is a rare X-linked neuromuscular disorder characterised by heterogeneous early manifestations. This study summarised the clinical, pathological, and genetic characteristics of patients with DMD in northern China and identified useful indicators for diagnosis and disease assessment.</p><p><strong>Methods: </strong>Twenty-three DMD patients at the Second Hospital of Hebei Medical University between 2014 and 2022 were retrospectively reviewed. Clinical data, laboratory findings, electrocardiography, electromyography, muscle pathology, dystrophin immunohistochemistry, and DMD gene variants were analysed.</p><p><strong>Results: </strong>Age at onset ranged from 0.5 to 7.5 years, mainly between 3.5 and 6.0 years. Bilateral lower-limb weakness and exercise intolerance were observed in 21 patients. All patients had elevated myocardial enzymes, decreased serum creatinine, elevated inorganic phosphate, and myogenic changes on electromyography; 22 had elevated transaminases and 17 had abnormal electrocardiograms. Muscle pathology showed connective tissue and fatty infiltration in all cases, with fibre atrophy. Dystrophin immunohistochemistry revealed complete loss of dystrophin-N/C/R in 21 patients and partial loss in two patients. Muscle strength was positively correlated with CK, CKMB, ALT, AST, LDH, and creatinine. Genetic testing identified 15 deletions, five duplications, and three small mutations, including a novel frameshift variant. Among 21 patients with parental testing, 10 mothers were carriers and 11 cases were considered de novo.</p><p><strong>Conclusions: </strong>DMD exhibited distinct clinicopathological and genetic patterns. Unexplained transaminase or myocardial enzyme elevation, decreased serum creatinine, and early motor abnormalities should prompt DMD genetic testing.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13647633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148437756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treating a patient with ADP porphyria through suppression of both hepatic and erythroid ALA production.","authors":"Niels C Veldhoen, Nicole C Peltenburg, Eduard J van Beers, Edith C H Friesema, Janneke G Langendonk","doi":"10.1186/s13023-026-04470-8","DOIUrl":"10.1186/s13023-026-04470-8","url":null,"abstract":"<p><p>δ-Aminolevulinic acid dehydratase deficient porphyria (ADP) is an exceedingly rare form of acute porphyria, with only fifteen published cases worldwide. This disorder has historically been considered an hepatic porphyria, as it was thought the overproduction of the toxic metabolite δ-Aminolevulinic acid (ALA) solely occurred in the liver. This case report demonstrates that treatments focused on reducing the hepatic ALA production had limited effect on this patient's symptoms. An earlier published hypothesis that patients with ADP also produce substantial levels of bone marrow derived ALA, was retested. We describe a Dutch patient in his early 60s, who has suffered from ADP since birth. His medical history mentions acute neurovisceral attacks, contractures of hand and feet, severe polyneuropathy, developmental delay, and renal insufficiency (eGFR 30-40 ml/min). For over a decade he was treated with weekly heme prophylaxis to reduce the frequency of neurovisceral attacks. Despite continuation, his chronic neurological symptoms aggravated and, in an attempt to suppress erythroid ALA production, weekly erythrocyte transfusions combined with hydroxyurea was started. The patient's symptoms improved and stabilized during this treatment. Oral chelation therapy was started to limit secondary iron overload caused by both heme and erythrocyte infusions. Years later we could trial givosiran, an ALAS1-siRNA to suppress the hepatic ALA production. After starting givosiran the heme infusions could be stopped without an increase in symptoms, but discontinuation of erythrocyte transfusions led to new onset neurovisceral attacks. His current schedule consists of continued givosiran and erythrocyte transfusions. This case report illustrates that ADP can be treated successfully with both hepatic and erythroid suppression. It also illustrates the challenges of treating a patient with a rare, complex and poorly understood disease, and the difficulty to balance the complications, side effects and the benefits of treatments.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13647891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148437744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Total glucosides of Paeony alleviates chronic endometritis in rats through regulating gut microbiota composition and inhibiting TLR4/NF-κB/NLRP3 pathway.","authors":"Xijia Ma, Xuelin Zhang, Dandan Wang, Yunpeng Ji, Dan Li, Fang Cheng","doi":"10.1186/s13023-026-04473-5","DOIUrl":"10.1186/s13023-026-04473-5","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to elucidate the functional role and regulating mechanism of Total Glucosides of Paeony (TGP) in chronic endometritis (CE).</p><p><strong>Methods: </strong>To assess the impact of TGP on CE, a CE rat model was established via infusion with 60 µL of 5.0 mg/mL LPS, while human endometrial stromal cells (HESCs) were pre-treated with 500 ng/mL LPS to simulate a CE cell model. Cell proliferation and apoptosis were evaluated using CCK-8, Flow cytometry and EDU staining techniques. Histological changes in uterine tissues were evaluated using H&E staining, while NLRP3 expression was analyzed via IHC staining. Levels of TNF-α, IL-1β, IL-6, and IL-10 in tissues were determined using enzyme-linked immunosorbent assay (ELISA). Additionally, the impact of TGP on intestinal flora was investigated using 16S rRNA sequencing.</p><p><strong>Results: </strong>TGP treatment attenuated pathological changes in uterine structure and inflammatory response in CE rats. It effectively suppressed the activation of the TLR4/NF-κB/NLRP3 pathway in CE rats. Moreover, TGP significantly enhanced the diversity and richness of intestinal microbiota in CE rats. The CE cell model further validated that TGP suppressed inflammation in LPS-induced HESCs.</p><p><strong>Conclusion: </strong>TGP demonstrates beneficial effects on LPS-induced chronic endometritis in rats through modulating the composition of intestinal microbiota and inhibition of TLR4/NF-κB/NLRP3 pathway.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13647706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148422926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic landscape of phenylketonuria in Brazil.","authors":"Rafael Hencke Tresbach, João Braga de Abreu Neto, Fernanda Sperb-Ludwig, Marta Wey Vieira, Roseli Divino Costa, Pedro Eduardo Bonfim Freitas, Luiz Carlos Santana da Silva, Louise Lapagesse de Camargo Pinto, Marcial Francis Galera, Keyla Christy Christine Mendes Sampaio Cunha, Cezar Antonio Abreu de Souza, José Nélio Januário, Marcos José Burle Aguiar, Romina Soledad Heredia, Maria Teresa Alves da Silva Rosa, Monique Oliveira Poubel, François Maillot, Ida Vanessa Doederlein Schwartz","doi":"10.1186/s13023-026-04435-x","DOIUrl":"10.1186/s13023-026-04435-x","url":null,"abstract":"<p><p>Phenylketonuria (PKU), one of the most common inherited metabolic disorders, is caused by biallelic loss-of-function variants in the phenylalanine hydroxylase (PAH) gene. More than 1000 pathogenic variants have been described in this gene. Although genotype-phenotype correlations are imperfect, PAH genotypes can influence treatment decision-making. To better characterize the genetic landscape of PKU in Brazil, we compiled a dataset of PAH genotypes from 742 patients by combining data from the literature (n = 486), public databases (n = 117), and direct physician reports (n = 139). Most patients were classified as having classical PKU (n = 455/742; 61.3%). The most prevalent variants were c.1162G > A (16.6%), c.1066-11G > A (13.9%), and c.782G > A (11.8%), which are also the predominant ones in Portugal, Spain, and Latin America. This study confirms the allelic heterogeneity of PKU in the Brazilian population and provide relevant insights to support public health policies for this disorder.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13348572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148422993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sustained clinical benefit of idursulfase beta in mucopolysaccharidosis II: two-year experience from a phase 3 extension study including patients switched from idursulfase.","authors":"Minji Im, Ari Song, Hyojung Park, Jiyeon Kim, Chiwoo Kim, Eu-Seon Noh, Ga Young Bae, Juyoung Sung, JiHoon Hwang, Yoon Ji Ahn, Haein Kim, Youngsin Oh, Bogyeong Kim, Sung Yoon Cho","doi":"10.1186/s13023-026-04492-2","DOIUrl":"10.1186/s13023-026-04492-2","url":null,"abstract":"<p><strong>Background: </strong>Long-term safety and efficacy data on enzyme replacement therapy, particularly switching between recombinant iduronate-2-sulfatase formulations, remain limited in mucopolysaccharidosis II (MPS II). This open-label extension study included male patients with MPS II who completed a 52-week, phase 3 trial and either continued idursulfase beta (maintenance group, n = 22) or switched from idursulfase (switch group, n = 6). Participants received weekly intravenous idursulfase beta (0.5 mg/kg) for an additional 52 weeks. Safety, immunogenicity, six-minute walk test (6-MWT), and urinary glycosaminoglycan (GAG) levels were evaluated longitudinally for two years. Changes over time were analyzed using descriptive statistics and mixed models for repeated measures.</p><p><strong>Results: </strong>Over the two-year treatment period, no new safety signals were identified in both groups. In the maintenance group, the incidence of adverse drug reactions decreased in the second year compared with the first year (from 54.5% to 13.6%); anti-drug antibody positivity peaked within the first six months and subsequently declined, with a low prevalence of neutralizing antibodies (4.5-22.7%). At Month 24, least-square mean changes from baseline demonstrated a 23.1% increase in 6-MWT distance and a 73.1% reduction in urinary total GAG levels in the maintenance group. Patients switching from idursulfase showed comparable safety profiles and sustained functional and biochemical improvements.</p><p><strong>Conclusions: </strong>These results demonstrate that idursulfase beta is safe and efficacious in the long-term management of MPS II. Additionally, switching from idursulfase to idursulfase beta preserved therapeutic efficacy without additional safety or immunogenicity concerns, supporting idursulfase beta as a viable option following prior idursulfase therapy.</p><p><strong>Registration: </strong>The study was registered at ClinicalTrials.gov (identifier, NCT07344376 date of registration, 7 January 2026).</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13637351/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148412623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessment.","authors":"Francesca Graziani, Elena Biagini, Alessia Argirò, Rodolfo Citro, Guido Iaccarino, Chiara Lanzillo, Ines Monte, Federico Pieruzzi, Cinzia Zuchi, Maurizio Pieroni","doi":"10.1186/s13023-026-04485-1","DOIUrl":"10.1186/s13023-026-04485-1","url":null,"abstract":"<p><strong>Background: </strong>Fabry disease (FD) is a rare inborn error of metabolism in which absent or deficient activity of α-galactosidase A leads to lysosomal dysfunction and globotriaosylceramide accumulation in different organs, including the heart. FD is characterized by a broad clinical spectrum, but Fabry cardiomyopathy represents the leading cause of morbidity and mortality. Electrocardiogram (ECG), echocardiography, and cardiac magnetic resonance (CMR) imaging are the cornerstones to suspect and diagnose cardiac involvement and to monitor it. Cardiac biomarkers such as troponin and N-terminal pro-B-type natriuretic peptide are also used to ascertain the degree of cardiac involvement. However, definitive data are lacking on how to plan the follow-up of patients with or without cardiac involvement, when to initiate specific therapy, and when to switch from one treatment to another. Current proposals suggest initiating treatment when there is evidence of left ventricular hypertrophy but before fibrosis develops.</p><p><strong>Main body: </strong>Ten experts on FD met in Milan on March 8, 2024. The panel of experts was selected based on their expertise and contribution to the literature on FD. The group deliberated on appropriate parameters for cardiac assessment at diagnosis and during follow-up. The panel discussed developing a multiparametric cardiac assessment system (including ECG, laboratory biomarkers, echocardiographic and CMR parameters) to be used in clinical practice to guide management and monitor treatment response. The authors defined the requirements of such a system and advocate for the research needed to build and validate it. The experts also proposed a multiparametric clinical pathway for cardiac assessment, treatment initiation, and follow-up, designed to support routine clinical decisions. This was intended as general guidance, acknowledging that clinicians should tailor management to the individual patient's specific characteristics - a principle of particular importance in rare diseases such as FD, where organ involvement and treatment response can differ substantially among individuals.</p><p><strong>Conclusion: </strong>Since cardiovascular disease is a leading cause of death in FD, an agreed staging system for evaluating cardiac progression is urgently needed. Further research should be carried out to confirm the criteria of a cardiac assessment system, evaluate its prognostic and predictive validity, and ensure its reliability and reproducibility.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13637155/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148423098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics of tumor-induced osteomalacia lesions in the neurocranium and intracranial structures.","authors":"Yushuo Wu, Xiang Li, Zhiqin Xu, Wei Lv, Zhixiang Wang, Xiaolin Ni, Qianqian Pang, Ruizhi Jiajue, Yue Chi, Wei Liu, Lijia Cui, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Wenbin Ma, Yu Wang, Yong Yao, Yi Guo, Zhiqiang Gao, Guodong Feng, Fang Qi, Yiyi Gong, Weibo Xia","doi":"10.1186/s13023-026-04477-1","DOIUrl":"10.1186/s13023-026-04477-1","url":null,"abstract":"<p><strong>Background: </strong>Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by excessive fibroblast growth factor 23 (FGF23) secretion. However, TIO lesions located in the neurocranium (NC) and intracranial (IC) structures remain poorly characterized.</p><p><strong>Objective: </strong>To characterize the clinical features of TIO lesions in NC and IC structures and to compare them with those located in the sinuses.</p><p><strong>Methods: </strong>This retrospective study included patients diagnosed with TIO who underwent tumor resection at Peking Union Medical College Hospital between January 2016 and December 2023. Patients with lesions in NC and IC structures were defined as the study group, while those with sinus lesions served as the control group. Clinical characteristics, biochemical parameters, and surgical outcomes were systematically analyzed and compared between groups.</p><p><strong>Results: </strong>TIO lesions in NC and IC structures were distributed across the skull base, temporal region, sellar region, frontal lobe, and occipital region. Compared with sinus lesions, patients with NC and IC lesions showed comparable clinical and biochemical profiles but exhibited significantly worse outcomes, including higher rates of non-remission and tumor recurrence. These findings suggest increased difficulty in complete tumor resection and disease control in this subgroup.</p><p><strong>Conclusion: </strong>TIO lesions in NC and IC structures are associated with poorer surgical outcomes and higher recurrence rates despite similar baseline characteristics. These results highlight the need for improved localization strategies and tailored management approaches for this challenging subgroup.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13637145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148405382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and cardiovascular phenotypes of dextrocardia and situs inversus among 277,396 adults: longitudinal evidence of amplified age-related blood pressure progression.","authors":"Dehao Zhang, Mei Lin, Xiaona Wang, Richard Liang, Michelle A Williams, Yi Ning","doi":"10.1186/s13023-026-04449-5","DOIUrl":"10.1186/s13023-026-04449-5","url":null,"abstract":"<p><strong>Background: </strong>Dextrocardia and situs inversus are rare congenital malformations. Although associated anomalies are well recognized, their prevalence in unselected adult populations and their cardiovascular phenotypes, particularly blood pressure in nonclinical settings, remain poorly characterized. This study aimed to estimate their prevalence, blood pressure profiles, and longitudinal changes in a large nonclinical cohort.</p><p><strong>Methods: </strong>In this longitudinal observational study, we reviewed records from the Beijing MJ health check-up cohort (2003-2025). Dextrocardia and situs inversus were confirmed via electrocardiography and imaging. Linear regression models assessed blood pressure differences, adjusting for age, sex, body mass index, glucolipid metabolism, renal function, and lifestyle factors. Linear mixed-effects models evaluated long-term blood pressure changes.</p><p><strong>Results: </strong>Among 277,396 adults, 43 had dextrocardia, 38 had situs inversus, and 29 had both. The prevalence (95% CI) was 1.6 (1.1-2.0) per 10,000 for dextrocardia and 1.4 (0.9-1.8) per 10,000 for situs inversus. In fully adjusted models, dextrocardia was associated with a 5.3 mmHg higher SBP (95% CI: 1.3-9.2) and a 4.5 mmHg higher DBP (1.7-7.4). Situs inversus was associated with a 7.0 mmHg higher SBP (2.8-11.2) and a 3.3 mmHg higher DBP (0.3-6.3). Longitudinally, each 10-year increase in age was associated with an additional 5.9 mmHg rise in SBP in dextrocardia (1.0-10.7; P for interaction = 0.02) and 5.5 mmHg in situs inversus (0.5-10.6; P for interaction = 0.03) compared with controls.</p><p><strong>Conclusion: </strong>In this large nonclinical cohort, dextrocardia and situs inversus were associated with higher blood pressure and a steeper age-related increase in SBP. Further studies are needed to confirm these findings.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13637326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148405455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}