{"title":"Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center.","authors":"Toshiya Nomura, Yohei Misumi, Masayoshi Tasaki, Shiori Yamakawa, Tomoaki Taguchi, Konen Obayashi, Taro Yamashita, Yukio Ando, Mitsuharu Ueda","doi":"10.1186/s13023-025-04006-6","DOIUrl":"10.1186/s13023-025-04006-6","url":null,"abstract":"<p><strong>Background: </strong>Hereditary transthyretin (ATTRv) amyloidosis is a rare, intractable genetic disorder caused by mutations in the transthyretin (TTR) gene. More than 150 TTR mutations have been identified, along with genotype-phenotype correlations. Early diagnosis is critical to facilitate the timely initiation of disease-modifying therapies.</p><p><strong>Objective: </strong>To characterize the genetic and clinical features of ATTRv amyloidosis at our referral center.</p><p><strong>Methods: </strong>A total of 6,201 TTR genetic tests were conducted at Kumamoto University Hospital over a ten-year period and revealed 289 mutations, including 235 symptomatic cases, which were analyzed in this study.</p><p><strong>Results: </strong>In a cohort of 235 patients with symptomatic ATTRv amyloidosis, 46 TTR mutations were identified. The genotypes were distributed as follows: V30M in endemic areas (7.7%), V30M in non-endemic areas (48.5%), and non-V30M mutations (43.8%). The mean age of onset was lowest for patients with V30M in endemic areas (42.4 ± 15.6 years) and higher for those with non-V30M mutations (60.6 ± 14.6 years) and V30M in non-endemic areas (64.5 ± 11.9 years). Family history was present in 93.3% of V30M cases in endemic areas but absent in 42.0% of V30M cases in non-endemic areas and 57.5% of non-V30M cases. Polyneuropathy was the predominant initial symptom, affecting 73.7% of endemic V30M cases, 54.3% of non-endemic V30M cases, and 34.6% of non-V30M cases. Diagnosis occurred earlier in patients with V30M in endemic areas than in other groups. Notably, delayed diagnosis has been observed in patients presenting with carpal tunnel syndrome or polyneuropathy.</p><p><strong>Conclusions: </strong>These findings demonstrate that patients with V30M in non-endemic areas and those with non-V30M mutations are more prevalent than previously recognized and that their genetic and clinical characteristics exhibit considerable diversity.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"474"},"PeriodicalIF":3.5,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12406441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963867","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":"Factors associated with functional status at presentation in patients with longitudinally extensive transverse myelitis.","authors":"Nisa Vorasoot, Pilantana Saichua, Prapassara Sirikarn, Narongrit Kasemsap, Kannikar Kongbunkiat, Somsak Tiamkao, Verajit Chotmongkol, Kittisak Sawanyawisuth","doi":"10.1186/s13023-025-03999-4","DOIUrl":"10.1186/s13023-025-03999-4","url":null,"abstract":"<p><strong>Background: </strong>Longitudinally extensive transverse myelitis (LETM) is a rare neurological disease. A case series evaluated the predictors of a long-term clinical outcome. However, there is limited data on predictors of functional status at presentation. Therefore, this study aimed to find clinical factors predictive of poor clinical presentation in Asian patients with LETM.</p><p><strong>Methods: </strong>This was a cross-sectional, retrospective analytical study. The inclusion criteria were adult patients with an age of 18 years or more who met the criteria of LETM. Clinical factors of eligible patients were recorded. Eligible patients were categorized into two groups based on the Expanded Disability Status Scale (EDSS) at the time of presentation; 6 or more vs. 0-5.5. A predictive model for the EDSS score at the time of presentation was created by the logistic regression analysis.</p><p><strong>Results: </strong>There were 40 patients with LETM in the study. Of those, 31 patients (77.50%) had an EDSS of 6 or more. There were two factors in the model predictive of the EDSS at presentation of 6 or more; thoracic lesion and complete lesion. Only a complete lesion was independently associated with an EDSS at presentation of 6 or more with an adjusted odds ratio of 15.202 (95% confidence interval of 2.028, 113.968; p value = 0.008).</p><p><strong>Conclusions: </strong>The complete cord lesion was independently associated with severe functional status in patients with LETM at presentation.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"467"},"PeriodicalIF":3.5,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12403507/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963861","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}
Silvia Boeri, Maria Piai, Silvia Russo, Valentina Alari, Francesca Cogliati, Davide Simonetta, Timothy A Benke, Lino Nobili, Giulia Prato
{"title":"Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review.","authors":"Silvia Boeri, Maria Piai, Silvia Russo, Valentina Alari, Francesca Cogliati, Davide Simonetta, Timothy A Benke, Lino Nobili, Giulia Prato","doi":"10.1186/s13023-025-03935-6","DOIUrl":"10.1186/s13023-025-03935-6","url":null,"abstract":"<p><strong>Background: </strong>Rett Syndrome (RTT) is a rare, and severe neurodevelopmental disorder that primarily affects females and is primarily (> 96%) due to pathogenic loss-of-function genetic variants of methyl-CpG-binding protein 2 (MECP2). Despite the rarity of the syndrome, sporadic twin cases have been reported. The descriptions have often focused on the phenotype, emphasizing differences or similarities. We report the case of monozygotic (MZ) twins with RTT carrying the same MECP2 mutation and perform a systematic review of the cases of MZ twins.</p><p><strong>Method: </strong>We searched PubMed and Embase for articles reporting MZ twins with RTT who met Neul criteria and carried mutations in the MECP2 gene. We focused on phenotypic discordance and X chromosome inactivation (XCI).</p><p><strong>Results: </strong>Our search yielded 115 results, 18 of which were included in our systematic review. We identified 17 pairs of twins, with 11 showing a discordant phenotype. Data on XCI were reported for only six pairs. We describe MZ twins with typical RTT syndrome who shared the same p.Thr158Met pathogenic variant on the MECP2 gene but exhibited different severity of clinical phenotype, especially regarding epilepsy. The XCI pattern and expression of the wild-type allele in blood were similar in both twins, suggesting that XCI differences assessed in blood may not account for the phenotypic variability. Mononucleate cells were isolated from both twins to generate induced pluripotent stem cells (iPSCs). The patient with more mutated clones presented a more severe phenotype.</p><p><strong>Discussion: </strong>Cases of MZ twins with RTT are few, and the phenotypic difference described in our case and presented in the literature does not seem to be explained by different XCI patterns. Therefore, more detailed genetic investigations are necessary.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"473"},"PeriodicalIF":3.5,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12406456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963863","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":"Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.","authors":"Jayesh Sheth, Tejasvi Dhondekar, Manali Ajagekar, Chaitanya Datar, Archana Kher, Jigish Trivedi, Swati Thakkar, Ajit Gandhi, Meenakshi Soni, Mayank Chaudhary, Manish Banker, Anil Jalan, Mamta Muranjan, Sujal Munshi, Ami Munshi, Mili Pandya, Jhanvi Shah, Aadhira Nair, Riddhi Bhavsar, Frenny Sheth, Harsh Sheth","doi":"10.1186/s13023-025-04003-9","DOIUrl":"10.1186/s13023-025-04003-9","url":null,"abstract":"<p><strong>Background: </strong>Rare genetic disorders are increasingly diagnosed due to advancing genetic technology, whilst, treatment for them is challenging. Therefore, their prevention by prenatal diagnosis is a way forward to reduce the overall burden. The present study provides an overview of a cohort of patients who were offered prenatal diagnosis for genetic disorders at a tertiary genetic center in India.</p><p><strong>Methods: </strong>The study included 1,738 prenatal samples for the period of 2008 to 2022, identified as being at high risk for rare genetic disorders based on family history, previous affected children, and abnormal ultrasound findings. Participants underwent prenatal diagnostic tests, including chorionic villus sampling or amniocentesis, or fetal blood by various molecular techniques and enzyme-based studies. Data regarding patient demographics, types of disorders screened, and diagnostic outcomes were collected and analyzed.</p><p><strong>Results: </strong>Of the 1738 cases, 467 (26.87%) prenatal samples were identified as being affected by genetic anomalies. The diagnosed conditions included hematological disorders (n = 735/1738, 42.28%), inborn errors in metabolism (n = 513/1738, 29.52%), neurological disorders (n = 310/1738, 17.84%), musculoskeletal disorders (n = 45/1738, 2.59%), and other rare genetic disorders (n = 135/1738, 7.77%). Early diagnosis facilitated timely medical information and provided options for prevention, such as medical termination of pregnancy (MTP) in affected cases after genetic counseling.</p><p><strong>Conclusion: </strong>Our study demonstrates that prenatal diagnosis for rare genetic disorders is an invaluable step toward reducing the burden of these conditions. The use of advanced genetic techniques, combined with genetic counseling, enables effective prevention strategies. However, challenges such as accessibility, cost, and ethical considerations continue to pose barriers to widespread implementation in India. Increased awareness and government policy support are essential to make these diagnostic services universally available and affordable.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"471"},"PeriodicalIF":3.5,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12403508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963897","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}
Piera Selvaggio, Esi Taci, Alessandra Barassi, Valentina Massa, Cristina Gervasini, Elena Lesma, Clara Bernardelli, Elisabetta Di Fede
{"title":"Exploring the uncharted role of cell senescence in rare diseases.","authors":"Piera Selvaggio, Esi Taci, Alessandra Barassi, Valentina Massa, Cristina Gervasini, Elena Lesma, Clara Bernardelli, Elisabetta Di Fede","doi":"10.1186/s13023-025-03778-1","DOIUrl":"10.1186/s13023-025-03778-1","url":null,"abstract":"<p><strong>Background: </strong>Cellular senescence is a biological process in which the cell cycle is arrested in response to DNA damage caused by different endogenous and exogenous stimuli. In senescent cells, activation of intracellular cascade induces epigenetic, morphological and metabolic changes. Among them, senescent status is characterized by an alteration of the epigenome and the establishment of a peculiar senescence-associated secretory phenotype (SASP), which contributes to the extracellular matrix remodeling and senescence spreading. Growing interest is directed towards senescence relevance both in physiological processes and in pathological ones, including rare progeroid syndromes. However, little is known about senescence contribution to the onset and development of rare diseases in which aging traits are not manifested.</p><p><strong>Main body: </strong>Here, we review the current knowledge about senescence involvement in four rare mendelian disorders of the epigenetic machinery (i.e. chromatinopathies) and four rare lung diseases, that can be considered a paradigm for understanding how epigenome alteration and aberrant microenvironment modification in senescence process might drive disease onset and progression. First, we report the main characteristics of chromatinopathies and the relation between the chromatin-related epigenetic defects and the senescence features in Sotos syndrome, Cornelia de Lange syndrome, Rett syndrome, and Kleefstra syndromes. Thereafter, we describe the pathological alteration and senescence involvement in cystic fibrosis, idiopathic pulmonary fibrosis, pulmonary arterial hypertension and lymphangioleiomyomatosis, considering them as models of rare lung diseases in which accumulation of senescent cells and their proinflammatory SASP have a central role.</p><p><strong>Conclusion: </strong>Exploring the role of senescence in different and less common diseases might promote the understanding of the senescent process as a novel player in rare disorders, for a more comprehensive vision of their complexity and the suggestion of novel possible therapeutical targets.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"465"},"PeriodicalIF":3.5,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12403278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963933","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}
Charlotte Mouraux, Tamara Dangouloff, Margaux Poleur, Laurane Mackels, Laura Vanden Brande, Aurore Daron, Laurent Servais, Alain Maertens de Noordhout, Stéphanie Delstanche
{"title":"Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium.","authors":"Charlotte Mouraux, Tamara Dangouloff, Margaux Poleur, Laurane Mackels, Laura Vanden Brande, Aurore Daron, Laurent Servais, Alain Maertens de Noordhout, Stéphanie Delstanche","doi":"10.1186/s13023-025-03963-2","DOIUrl":"https://doi.org/10.1186/s13023-025-03963-2","url":null,"abstract":"<p><strong>Background: </strong>Patients with neuromuscular diseases (NMD) have undergone considerable technological progress in terms of diagnosis and treatment over the past few years. Specifically, next-generation sequencing (NGS) has significantly expanded genetic diagnosis. Despite this, some patients remain undiagnosed and therefore without access to specific treatments. Analyses of epidemiology and diagnostic approaches in reference centers are required to determine effective strategies to improve diagnostic rates.</p><p><strong>Methods: </strong>We studied the proportion of each NMD and associated investigations in the patient population of the Neuromuscular Reference Center (NMRC) of Liege, Belgium, in 2023. The investigation tools used included laboratory testing, muscle biopsy, muscle imaging, single-gene sequencing, targeted NGS panels, and whole-exome sequencing (WES).</p><p><strong>Results: </strong>Of the 1084 patients who were regularly followed up, more than one-third had neuropathies (36.6%) that were divided equally between genetic and acquired causes. The second most common disorder was muscular dystrophies, which represented more than a quarter (27.5%). Third, 11.2% of the patients had motor neuron diseases. The other NMD (i.e., myopathies, ataxias, spastic paraplegias, and channelopathies) ranged from 2.1% to 6. %. A total of 13.7% of the patients had unconfirmed diagnoses, 31.5% had confirmed acquired disorders, and 54.9% had genetically confirmed disorders. Among the genetic diagnoses, 32.7% were obtained by NGS. The remaining 67.3% were determined using other genetic testing methods [i.e., array comparative genomic hybridization (aCGH), multiplex ligation-dependent probe amplification (MLPA), polymerase chain reaction (PCR), southern blotting (SB)].</p><p><strong>Conclusion: </strong>More than two-thirds of patients received a definitive diagnosis without the use of next-generation sequencing. Although innovative technologies such as whole genome sequencing and long-read sequencing are expected to eventually replace NGS panels and traditional methods (e.g., MLPA, PCR, aCGH), their current cost and the complexity of variant interpretation limit their widespread use in routine clinical practice. As a result, these older techniques remain relevant and valuable in current diagnostic workflow.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"464"},"PeriodicalIF":3.5,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12398174/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963941","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}
Gabriella Scott, Ashlee Agundiz, Jeffrey Nelson, Steven Hetts, Marianne Clancy, Helen Kim, Marie E Faughnan
{"title":"Assessing racial differences in North American hereditary hemorrhagic telangiectasia study recruitment and care.","authors":"Gabriella Scott, Ashlee Agundiz, Jeffrey Nelson, Steven Hetts, Marianne Clancy, Helen Kim, Marie E Faughnan","doi":"10.1186/s13023-025-03883-1","DOIUrl":"10.1186/s13023-025-03883-1","url":null,"abstract":"<p><strong>Background: </strong>There is increasing evidence of health outcome disparities due to inequitable healthcare. These inequities are likely compounded in rare disease care and research. We aimed to identify disparities in access to clinical care and research for patients with hereditary hemorrhagic telangiectasia (HHT) in North America.</p><p><strong>Methods: </strong>We collected race data from the Toronto HHT Centre Brain Vascular Malformation Consortium (BVMC) recruits, the UCSF HHT Centre BVMC recruits, and the UCSF HHT Centre clinic patients, and compared proportions to local populations (2016 Canadian Census and 2010 San Francisco Bay Area Census).</p><p><strong>Results: </strong>At the UCSF HHT center, there was a significant association between race and BVMC enrollment status (p = 0.033). The proportion of White BVMC recruits was significantly higher than reported in the SF Bay Area Census data (p < 0.001). At the Toronto HHT centre the proportion of White BVMC recruits was significantly higher than reported in the Canadian Census provincial data (p < 0.001), and Toronto Metropolitan Area data (p < 0.001).</p><p><strong>Conclusion: </strong>We report preliminary evidence of racial differences in access to HHT care and research in North America. Our findings indicate a need for race data collection and reporting, as well as identification of barriers and potential solutions in HHT care and research.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"461"},"PeriodicalIF":3.5,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12392467/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963917","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}
Karli Shelton, Phu Dang, Courtney McCorkle, Pooja Mallipaddi, Nicholas Hollman, Jeremy Pomeroy, Jesse Richards
{"title":"Congenital melanocytic nevi in Bardet-Biedl syndrome.","authors":"Karli Shelton, Phu Dang, Courtney McCorkle, Pooja Mallipaddi, Nicholas Hollman, Jeremy Pomeroy, Jesse Richards","doi":"10.1186/s13023-025-03870-6","DOIUrl":"https://doi.org/10.1186/s13023-025-03870-6","url":null,"abstract":"<p><strong>Background: </strong>Bardet-Biedl Syndrome (BBS) is a rare obesogenic disorder affecting multiple organs. The diagnosis of BBS is usually difficult and delayed due to this syndrome's wide variety of clinical features. This study aims to assess the rate of congenital melanocytic nevi (CMN) in the BBS population in an effort to bring light to an easily assessable and early manifestation of BBS to aid in earlier diagnosis.</p><p><strong>Methods: </strong>We utilized a survey distributed to patients with BBS registered within the Clinical Registry Investigating Bardet-Biedl Syndrome database. Analysis was performed to identify participants with CMN and their prevalence of major and minor symptoms of the diagnostic criteria for BBS.</p><p><strong>Results: </strong>Data from 67 patients with BBS were gathered from our surveys. Of those participants, 23.9% reported having a CMN. Patients with CMN were more likely to have abnormal reproductive health issues, high arched palate, missing teeth, dental crowning, short teeth roots, and webbed fingers and toes.</p><p><strong>Conclusion: </strong>Our findings suggest that BBS is associated with CMN, possibly through altered neural crest cell migration. Screening for CMN shows a promise as a potential non-invasive screening tool to aid in earlier diagnosis of BBS.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"462"},"PeriodicalIF":3.5,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12395923/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963915","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}
Dominic Ledinger, Barbara Nussbaumer-Streit, Brigitte Piso, Andreea Dobrescu, Arianna Gadinger, Irma Klerings, Katharina Hohenfellner, Isolde Sommer
{"title":"Diagnosis and management of cystinosis: systematic review for a clinical practice guideline.","authors":"Dominic Ledinger, Barbara Nussbaumer-Streit, Brigitte Piso, Andreea Dobrescu, Arianna Gadinger, Irma Klerings, Katharina Hohenfellner, Isolde Sommer","doi":"10.1186/s13023-025-03974-z","DOIUrl":"https://doi.org/10.1186/s13023-025-03974-z","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"463"},"PeriodicalIF":3.5,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12395644/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963945","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}