Orphanet Journal of Rare Diseases最新文献

{"title":"Like walking through treacle: the experience of fatigue for young people with interstitial lung disease.","authors":"Carlee Gilbert, Kate M Bennett, Andrew Bush, Christopher Brown","doi":"10.1186/s13023-025-03607-5","DOIUrl":"https://doi.org/10.1186/s13023-025-03607-5","url":null,"abstract":"<p><p>Interstitial Lung Disease in childhood (chILD) is rare, and little research has been conducted into the experience of fatigue. Fatigue is a complex phenomenon that can be difficult to quantify due to the various physiological and psychological factors involved. However, fatigue can significantly impact a range of quality-of-life areas for those with a respiratory condition. Our aim is to understand if there are any clinical or research needs relating to fatigue for young people with chILD. This qualitative, non-clinical study explores the lived experience of fatigue in young people with chILD. Fifteen participants comprising child-parent dyads (n = 2), young adults (n = 4) and parents (n = 9) were recruited from chILD patient organisations and online communities. We focused on the experience of fatigue in terms of how it is communicated, the symptoms, and their impact. We explored whether any factors led to the young person being motivated to push beyond fatigue. Data was analysed by constructivist grounded theory. There were three main themes of interest: (i) the experience of fatigue that includes reporting abnormal weakness and behavioural affect; (ii) the consequences of fatigue, such as its impact on education, society, and quality-of-life; (iii) motivational strategies and supportive measures that help young people manage their fatigue. Fatigue is a complex, multi-dimensional phenomenon for those living with chILD. For future work, we recommend incorporating the discussion of fatigue into clinic settings to assess any quality-of-life burden factors alongside living with chILD.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"151"},"PeriodicalIF":3.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764525","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}

{"title":"Comparative analysis of large language models on rare disease identification.","authors":"Guangyu Ao, Min Chen, Jing Li, Huibing Nie, Lei Zhang, Zejun Chen","doi":"10.1186/s13023-025-03656-w","DOIUrl":"10.1186/s13023-025-03656-w","url":null,"abstract":"<p><p>Diagnosing rare diseases is challenging due to their low prevalence, diverse presentations, and limited recognition, often leading to diagnostic delays and errors. This study evaluates the effectiveness of multiple large language models (LLMs) in identifying rare diseases, comparing their performance with that of human physicians using real clinical cases. We analyzed 152 rare disease cases from the Chinese Medical Case Repository using four LLMs: ChatGPT-4o, Claude 3.5 Sonnet, Gemini Advanced, and Llama 3.1 405B. Overall, the LLMs performed better than human physicians, and Claude 3.5 Sonnet achieved the highest accuracy at 78.9%, significantly surpassing the accuracy of human physicians, which was 26.3%. These findings suggest that LLMs can improve rare disease diagnosis and serve as valuable tools in clinical settings, particularly in regions with limited resources. However, further validation and careful consideration of ethical and privacy issues are necessary for their effective integration into medical practice.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"150"},"PeriodicalIF":3.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753839","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}

{"title":"Clinical application of polar body-based preimplantation genetic testing for maternal mutations in women with a limited number of oocytes.","authors":"Jia Chen, Xingwu Wu, Qiang Xu, Tao Ding, Ge Chen, Houyang Chen, Yongyi Zou, Jialyu Huang, Ziyu Zhang, Lifeng Tian, Yan Zhao, Ranhui Duan, Zengming Li, Qiongfang Wu, Yanqiu Liu","doi":"10.1186/s13023-025-03659-7","DOIUrl":"https://doi.org/10.1186/s13023-025-03659-7","url":null,"abstract":"<p><strong>Background: </strong>Trophectoderm (TE) cell biopsy at the blastocyst stage is currently the most common method used in preimplantation genetic testing for monogenic disorders (PGT-M). However, this approach may result in the wasting of some genetically unaffected embryos because only a proportion of zygotes develop to the blastocyst stage. Unaffected embryos, which degenerated during blastomere-blastocyst transformation, may give birth if transferred before the blastocyst stage and may be of great value to women with a low oocyte count. This study sought to investigate the potential application of polar-body (PB) biopsy in saving more genetically unaffected embryos for women with disease-causing mutations and a limited number of oocytes during PGT-M.</p><p><strong>Methods: </strong>Three couples with female partners who had autosomal dominant or X-linked mutations in IRF6, FMR1, and EDA were recruited. The number of retrieved oocytes was limited to six per cycle. The first and second PBs (PB1 and PB2) of each oocyte were biopsied separately and subjected to multiple displacement amplification (MDA). The genotype of each embryo was determined by analyzing the MDA products of the corresponding PB1 and PB2 using a novel approach that combined direct mutation testing and single nucleotide polymorphism linkage analysis. Mutation-free embryos cryopreserved before the blastocyst stage were chosen for transfer.</p><p><strong>Results: </strong>In total, four cycles were performed, resulting in the retrieval of 15 oocytes for three couples. The genotype of each embryo was successfully determined. Seven mutation-free embryos were discovered. Three of them were transferred, resulting in two clinical pregnancies, and the birth of two healthy infants. The accuracy of the embryo genotypes was validated by genetic testing of fetuses in the second trimester or at birth.</p><p><strong>Conclusions: </strong>The PB-based strategy is feasible and effective for determining the mutation-carrier statuses of embryos in PGT-M for maternal mutations. Compared to blastocyst stage detection, this method may save a greater number of genetically unaffected embryos for patients. Further clinical trials are needed to determine whether PB biopsy is more beneficial than TE cell biopsy for women with disease-causing mutations and a limited number of oocytes in PGT-M.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"152"},"PeriodicalIF":3.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764455","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}

{"title":"Primary hyperparathyroidism during pregnancy: ultrasound as an accurate preoperative localization imaging modality.","authors":"Mengyuan Zhou, Yudi He, Yanwen Luo, Ou Wang, Quan Liao, Yuxin Jiang, He Liu, Qingli Zhu","doi":"10.1186/s13023-024-03519-w","DOIUrl":"10.1186/s13023-024-03519-w","url":null,"abstract":"<p><strong>Background: </strong>Accurate identification of parathyroid lesions in primary hyperparathyroidism (PHPT) patients is essential for minimally invasive surgery during pregnancy.</p><p><strong>Materials and methods: </strong>Patients who were diagnosed with PHPT during pregnancy and who had undergone surgical treatment between January 2005 and September 2023 were retrospectively included. Demographic and clinical characteristics and preoperative parathyroid ultrasound (US) and technetium-99m sestamibi (^99mTc-MIBI) scintigraphy results were collected. Histopathologic examinations were conducted for all lesions removed during neck surgery, and the results were considered as the reference standard.</p><p><strong>Results: </strong>A total of 19 pregnant patients with PHPT who had undergone parathyroidectomy were retrospectively included in the study. The median age was 30 years. Sixteen (16/19, 84.2%) patients had single-gland disease and three (15.8%) had two lesions. Three patients were confirmed as multiple endocrine neoplasia type 1. The median size of all lesions was 1.8 cm (0.6-7.5 cm). All patients had undergone US examination, and eight patients had ^99mTc-MIBI scintigraphy. A total of 21 lesions were found on US. The diagnostic sensitivity of the US was 95.45% per lesion and 100% per patient. One lesion, with a maximum diameter of 0.6 cm, was missed preoperatively by either US or ^99mTc-MIBI scintigraphy. Nine patients had surgery in the second trimester and 88.89% of them had a full-term pregnancy after surgery. There were no complications in the newborns.</p><p><strong>Conclusions: </strong>In pregnant PHPT patients, US achieved high sensitivity for preoperative lesion localization. Surgery during the second trimester after accurately localizing the lesion(s) by US improved the patients' pregnancy outcomes.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"148"},"PeriodicalIF":3.4,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753846","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}

{"title":"Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder.","authors":"Mousumi Bose, Tahra C Anglade, Chelsea I Donlon, Adrian L Kerrihard, Hila F Berger, Ariel S Berkowitz, Shawn A Ritchie, Tara M Smith","doi":"10.1186/s13023-025-03660-0","DOIUrl":"https://doi.org/10.1186/s13023-025-03660-0","url":null,"abstract":"<p><strong>Background: </strong>Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic disorder characterized by symptoms such as respiratory dysfunction, seizures, orthopedic issues, and neurodevelopmental delay. Potential therapeutics for RCDP warrant the development of clinical outcome assessments to assess the efficacy of treatment and the well-being of patients. Our study aimed to develop a valid quality-of-life (QOL) caregiver-reported survey instrument, RhizoQOL, to be used as a supportive endpoint in RCDP clinical trials.</p><p><strong>Methods: </strong>Development of the RhizoQOL survey tool included three RCDP caregiver focus groups to elicit concepts to serve as potential domains in a QOL survey instrument for RCDP, pilot survey development and initial testing, cognitive interviewing of revised survey drafts to determine content validity, as well as a three-month longitudinal study for reliability and internal consistency of the survey instrument.</p><p><strong>Results: </strong>Twenty-eight caregivers participated in the focus groups, reporting that concepts that could be appropriate domains of QOL in RCDP include psychosocial behavior, feeding symptoms, mobility symptoms, respiratory symptoms, seizures and related activity, and impact of treatment. Following pilot survey testing (n = 22) and stakeholder feedback, a revised pilot survey instrument was administered to five caregivers for cognitive interviewing. This resulted in a revised survey instrument with 31 question items, six domains, and a 1-5 Likert scale item response assessing frequency or severity of event in the question item. Longitudinal testing (n = 18) of the revised survey instrument found the average response score was 1.98 ± 0.97 for all question items, and a Cronbach's alpha value of 0.856, suggesting strong intra-survey question reliability. Using individual question item results from reliability testing, linear regression modeling, and testing for required magnitude of significant treatment effects, eight question items were removed from the survey instrument, resulting in a total of 23 question items within 6 discrete domains.</p><p><strong>Conclusions: </strong>The final RhizoQOL survey instrument, consisting of 23 questions, assesses the symptoms and experiences of RCDP patients as observed by caregivers and serves as a novel clinical outcome assessment for RCDP therapeutic clinical trials to assess the impacts of RCDP and support the overall effectiveness of treatments.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"147"},"PeriodicalIF":3.4,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753841","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}

{"title":"Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study.","authors":"Anne-Sophie Renous, Lena Damaj, Magali Gorce, Magalie Barth, Antoine Bedu, Elise Sacaze, Delphine Lamireau, Cécile Laroche-Raynaud, Laurent Pasquier, Zoha Maakaroun-Vermesse, Marine Tardieu, François Labarthe","doi":"10.1186/s13023-025-03648-w","DOIUrl":"10.1186/s13023-025-03648-w","url":null,"abstract":"<p><strong>Background: </strong>Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole population, and specific vaccinations, such as the seasonal influenza vaccine, for the most vulnerable. The aim of this study was to evaluate vaccination coverage and timeliness in young patients with an IEM.</p><p><strong>Patients & methods: </strong>We conducted a retrospective multicentric (7 centers) study between February 2021 and May 2022 evaluating vaccination coverage and delays in French young patients with an IEM according to the yearly French vaccination schedules published since 2002. The results were analyzed considering patient health conditions as stable or at risk (defined as cardiorespiratory failure or by an IEM with a serious risk of metabolic crisis).</p><p><strong>Results: </strong>Two hundred seventy-five patients were enrolled in this study. Among them, only 164 (60%) were up-to-date with the standard French vaccination schedule, and 229 (83%) had received at least one vaccine from this schedule late. The rate of delayed vaccination was significantly greater in the at-risk group than in the stable group for the main primaries and first booster doses of the DTaP-IPV-Hib vaccine and for the first MMR injection. Finally, only 30 to 35% of at-risk patients were vaccinated against influenza during the three previous winters.</p><p><strong>Conclusion: </strong>Young patients with an IEM had insufficient vaccination coverage with significant delays, exposing them to vaccine-preventable diseases, particularly at-risk patients with cardiorespiratory failure or a serious risk of metabolic crisis. Furthermore, only a few of the most vulnerable patients had received specific vaccinations, such as the influenza vaccine. Therefore, optimizing vaccination within the recommended schedule is crucial for this population of vulnerable children who have regular hospital follow-up.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"149"},"PeriodicalIF":3.4,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753842","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}

{"title":"Spanish consensus on managing pregnancy in women with Gaucher disease.","authors":"Enrique J Calderón, Alicia Rodríguez-Fernández, Irene Calderón-Baturone, Rafael Aporta-Rodríguez, Francisco J Del Castillo, Lutgardo García-Díaz, Antonio González-Meneses, María Lourdes Hermosín-Ramos, Raquel Yahyaoui, Ignacio Marín-León","doi":"10.1186/s13023-025-03684-6","DOIUrl":"https://doi.org/10.1186/s13023-025-03684-6","url":null,"abstract":"<p><p>Gaucher disease can have effects on the development of pregnancy, childbirth, and lactation, with impact on health of both the mother and the newborn. Management of pregnancies in Gaucher patients is further complicated by using of enzyme replacement therapy. Unfortunately, the available scientific evidence is not conclusive because there are not proper clinical trials on this issue. The aim of this work was to establish a management guide to address the main clinical problems before, during and after pregnancy and to provide key information to healthcare professionals, patients, and families. GRADE methodology to evaluate the quality of scientific evidence and develop recommendations was incorporated to elaborate this guide. For final recommendations, a structured consensus 2-round process was carried out using the Delphi method with a Gaucher expert panel. After this process, nine recommendations were elaborated related to pre-pregnant status and genetic counseling and for management during pregnancy, seven related to childbirth, and eight focused on management after delivery and breastfeeding. Regarding the quality of the evidence, values and preferences of patients were also considered. A consensus guide to define and standardize pregnancy management in Gaucher disease considering the best available evidence, complemented by experts' opinions, could be a relevant tool to help patients, nurses, midwives and physicians with little experience in Gaucher disease who do not have access to guidance from Gaucher disease treatment centers of excellence.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"146"},"PeriodicalIF":3.4,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743436","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":"Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys.","authors":"Shoshana Revel-Vilk, Uma Ramaswami, Guillem Pintos-Morell, Derralynn Hughes, Kathy Nicholls, Ricardo Reisin, Roberto Giugliani, Ozlem Goker-Alpan, Majdolen Istaiti, Aidan Gill, Maurizio Scarpa, Jaco Botha","doi":"10.1186/s13023-024-03416-2","DOIUrl":"https://doi.org/10.1186/s13023-024-03416-2","url":null,"abstract":"<p><strong>Background: </strong>Fabry disease and Gaucher disease are rare genetic disorders characterized by defective degradation of glycosphingolipids caused by enzymatic deficiencies in α-galactosidase A and β-glucocerebrosidase, respectively, and often require life-long treatment. Treatment options for these disorders include replacing the deficient enzymes via enzyme replacement therapy (ERT). Agalsidase alfa for Fabry disease and velaglucerase alfa for Gaucher disease are two ERT options with demonstrated efficacy, safety, and tolerability. ERT infusions administered by a health care provider (HCP) in the clinic/hospital, or at the patient's home are considered HCP-supported infusions. Self-administration of ERT (by patient, partner, relative, or caregiver) is optional in patients who tolerate the HCP-supported infusions at home and have a suitable home environment. This analysis explored the safety profiles of self-administered agalsidase alfa (202 patients) and velaglucerase alfa (30 patients) versus HCP-supported infusions using data from the Fabry Outcome Survey (FOS) and Gaucher Outcome Survey (GOS) registries.</p><p><strong>Results: </strong>The frequency of infusion-related reactions (IRRs) adverse events (AEs) recorded in the two registries was lower in patients self-administering (FOS: 4.5%, GOS: 0%) versus patients receiving HCP-supported infusions (FOS: 13.6%, GOS: 1.6%). In the FOS registry, AE rates per 100 patient-years (100PY) of follow-up were similar between the self-administration (7.99) and HCP-supported infusion (6.78) groups. In patients self-administering agalsidase alfa, cardiac disorders were the most frequently reported AEs (19 [9.4%] patients) and serious AEs (12 [5.9%]) and gastrointestinal disorders were the most frequently reported IRRs (3 [1.5%]). In the GOS registry, AE rates per 100PY were similar between self-administration (4.97) and HCP-supported infusion (4.67) groups. In patients self-administering velaglucerase alfa, skin and subcutaneous disorders (4 [13.3%]) and infections and infestations (2 [6.7%]) were the most reported AEs and serious AEs, respectively, and no IRRs were reported.</p><p><strong>Conclusions: </strong>These findings suggest that self-administration of agalsidase alfa or velaglucerase alfa infusions are not associated with additional safety risks compared with HCP-supported infusions and are a suitable option for qualifying patients. Further research is warranted to support these findings and to explore further the long-term safety and efficacy of ERT self-administration. FOS trial registration: ClinicalTrials.gov, NCT03289065. Registered 01 April 2001, https://clinicaltrials.gov/study/NCT03289065 . GOS trial registration: ClinicalTrials.gov, NCT03291223. Registered 27 July 2010, https://classic.</p><p><strong>Clinicaltrials: </strong>gov/ct2/show/NCT03291223 .</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"145"},"PeriodicalIF":3.4,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743401","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":"Epidemiology of gall bladder cancer and its prevalence worldwide: a meta-analysis.","authors":"Ali Afzal, Yan-Yan Liu, Amara Noureen, Amna Rehman, Mehreen Iftikhar, Hanan Afzal, Fareeha Azam, Umair Ali Khan Saddozai, Tayyba Jan, Zoya Asif, Lei Zhang, Xin-Ying Ji, Muhammad Babar Khawar","doi":"10.1186/s13023-025-03652-0","DOIUrl":"10.1186/s13023-025-03652-0","url":null,"abstract":"<p><strong>Background: </strong>Gallbladder carcinoma (GBC) accounts for 1.3% of cancer incidence and 1.7% of cancer-related deaths which emphasizes the need for comprehensive research in epidemiological trends.</p><p><strong>Aim: </strong>We aim to address this gap by investigating global prevalence trends across various regions, age groups, risk factors and cancer stages.</p><p><strong>Methods: </strong>A meta-analysis of studies retrieved from Google Scholar, PubMed and Web of Science, reporting prevalence of GBC was conducted using a predetermined screening criterion. Meta Regression and Egger's Regression-based tests were employed to assess heterogeneity and publication bias, respectively.</p><p><strong>Results: </strong>We identified three types of studies (n = 20), primarily originating from Asia (n = 10) over a cumulative time period of 24 years (1988-2012). The pooled analysis revealed a statistically significant GBC prevalence of 20.3 ± 5.2% (95% CI 9.3-31.3%, p = 0.001) among at-risk populations, including those with gallstones or cholecystitis. Analysis of potential publication bias showed none, nevertheless, individual parameters indicated varying significance. Subgroup analyses highlighted regional, temporal, and demographic variations, emphasizing the influence of factors like sample size and age on GBC prevalence. Correlation analysis demonstrated strong positive associations with sample size (p < 0.01), gender distribution (male: r = 0.85, p < 0.01, female: r = 0.806, p < 0.01), and prevalence rates (r = 0.98, p = 0.04).</p><p><strong>Conclusion: </strong>Despite of less data present, our comprehensive overview of prevalence, regional variations, and demographic associations serves as a crucial starting point for future targeted investigations. The study fulfills a gap in epidemiology of GBC and emphasizes the need for increased attention and provides a pioneering arena in future.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"143"},"PeriodicalIF":3.4,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11948642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143731045","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":"Efficacy of magnetic resonance imaging in managing glycogen storage disease.","authors":"Jhii-Hyun Ahn, Yong Whi Jeong, Yong Bok Choi, Yunkoo Kang","doi":"10.1186/s13023-025-03605-7","DOIUrl":"10.1186/s13023-025-03605-7","url":null,"abstract":"<p><strong>Background: </strong>Glycogen storage disease (GSD) is a rare genetic disorder requiring continuous management. It poses a risk of progression to hepatocellular adenoma (HCA) and hepatocellular carcinoma. While ultrasonography is the primary imaging modality to monitor liver health, it has limitations in assessing liver size and detecting HCAs, which can be addressed by magnetic resonance imaging (MRI). This study was conducted to evaluate the efficacy of MRI in the proactive management of GSD and its ability to predict HCA.</p><p><strong>Methods: </strong>This study included 32 patients with GSD from Wonju Severance Christian Hospital, of whom 29 underwent MRI examinations. Baseline characteristics, such as sex, height, weight, and body surface area (BSA), were recorded, along with laboratory markers. The MRI protocols included T2-weighted axial and coronal imaging, proton magnetic resonance spectroscopy, multi-echo Dixon imaging, magnetic resonance elastography, and T1 mapping. The correlation between liver volumes and laboratory results was analyzed, and logistic regression was used to analyze the association between the liver volume/BSA ratio and adenoma occurrence.</p><p><strong>Results: </strong>A significant correlation was observed between a high liver volume-to-BSA ratio and the likelihood of HCA development. Receiver operating characteristic curve analysis showed an area under the curve of 0.816 for predicting HCAs and a C-index of 0.847, indicating that MRI had high predictive accuracy. For each unit increase in the liver volume-to-BSA ratio, the probability of HCA increased by 1.005.</p><p><strong>Conclusion: </strong>MRI is valuable for assessing adenoma formation in patients with GSD. Although not intended for routine surveillance of all patients, MRI can be selectively used in high-risk cases to enable early detection and timely intervention, thereby reducing the risk of progression to malignant transformation.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"144"},"PeriodicalIF":3.4,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11948790/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143731041","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}