Orphanet Journal of Rare Diseases最新文献

{"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}

{"title":"Whole exome sequencing enhances diagnosis of hereditary bronchiectasis.","authors":"Wangji Zhou, Yixuan Li, Haixia Zheng, Miao He, Miaoyan Zhang, Qiaoling Chen, Christopher Situ, Yaqi Wang, Ting Zhang, Keqi Chen, Jinrong Dai, Shuzhen Meng, Xueqi Liu, Aohua Wu, Yaping Liu, Kai-Feng Xu, Xinlun Tian, Xue Zhang","doi":"10.1186/s13023-025-03661-z","DOIUrl":"10.1186/s13023-025-03661-z","url":null,"abstract":"<p><strong>Background: </strong>Hereditary bronchiectasis refers to a subset of bronchiectasis related to genetic mutations, presenting with common clinical features. Historically, diagnosing this condition has been difficult due to the inaccessibility of diagnostic services coupled with a lack of awareness of the syndrome. We hypothesize that whole exome sequencing (WES) in patients with supporting clinical features, combined with non-genetic testing methods, will enhance the diagnosis of hereditary bronchiectasis.</p><p><strong>Results: </strong>In total, 87 patients with clinical features suggestive of hereditary bronchiectasis, such as diffuse bronchiectasis (≥ 2 lobes) combined with early onset symptoms, recurrent otitis media, rhinosinusitis, infertility, organ laterality defects or a family history of bronchiectasis, were included in this study. Among them, 49.4% (43/87) were diagnosed with hereditary bronchiectasis, including 15 patients with cystic fibrosis, 27 patients with primary ciliary dyskinesia, and 1 patient with immunodeficiency-21. The combined use of WES and non-genetic testing methods significantly improved the diagnostic rate of hereditary bronchiectasis compared to non-genetic testing alone (47.1% vs. 25.3%, P = 0.005). Re-analysis of negative commercial genetic tests led to two additional diagnoses, though this increase was not statistically significant (47.1% vs. 49.4%, P = 0.879).</p><p><strong>Conclusions: </strong>We have described the supporting clinical features of patients with hereditary bronchiectasis. Clinicians should recommend WES for patients exhibiting these characteristics, in combination with accessible non-genetic testing methods, to maximize diagnostic accuracy. For patients with negative initial genetic test results, re-analysis of WES data may facilitate obtaining a new diagnosis.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"142"},"PeriodicalIF":3.4,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11934690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701007","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":"Experience of illness with chronic singultus: a qualitative interview study.","authors":"Marco Richard Zugaj, Claudia Busch, Andrea Züger, Jens Keßler","doi":"10.1186/s13023-025-03619-1","DOIUrl":"10.1186/s13023-025-03619-1","url":null,"abstract":"<p><strong>Background: </strong>Chronic singultus lasting longer than one month is a rare disease. Due to its low prevalence, generating evidence about it is difficult. Patients with chronic diseases struggle with considerable restrictions in their quality of life. Chronic hiccups can lead to problems such as insomnia, anorexia, fatigue, exhaustion, weight loss, and depression. The aim of this study was to gain a better understanding of the quality of life of patients with chronic singultus and their experiences in contact with the healthcare system and with the general population.</p><p><strong>Methods: </strong>The data were collected using semi-structured interviews. The data analysis was carried out using qualitative structuring content analysis according to Kuckartz and Rädiker. Reliability was ensured by joint interprofessional evaluation of the interviews by experts, considering different perspectives.</p><p><strong>Results: </strong>Interviews from 20 patients with chronic singultus were analyzed. Analysis yielded 43 categories that could be assigned to five main topics. The disease burden of the patients was high. In addition to physical symptoms such as concomitant gastroenterological symptoms, shortness of breath, and fatigue, psychosocial consequences such as shame, social withdrawal, anxiety, depression, and even suicidality led to reduced quality of life.</p><p><strong>Conclusions: </strong>Ignorance and helplessness among healthcare stakeholders in the case of chronic singultus could lead to a marginalization of the disease and patients. Referring patients to a center with the appropriate expertise can help to avoid underuse, overuse, or misuse of healthcare. Therefore, the awareness of the disease among stakeholders must raise.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"141"},"PeriodicalIF":3.4,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11930004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143693009","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":"Gynaeco-obstetrical follow-up of patients with dystrophic epidermolysis bullosa, a prospective study.","authors":"M Fournier, E Bourrat, J Rapp, D Vexiau, C Trastour, C Chiaverini","doi":"10.1186/s13023-024-03434-0","DOIUrl":"10.1186/s13023-024-03434-0","url":null,"abstract":"<p><strong>Background: </strong>Dystrophic epidermolysis bullosa (DEB) is a rare group of genetic skin-fragility conditions resulting in blisters and erosions of the skin and mucosa, evolving into dystrophic and retractile scars. This study objective is to describe the genital involvement in women with DEB and their gynaeco-obstetrical life.</p><p><strong>Results: </strong>In this prospective two-centre study, data from women with DEB who were older than 18 years was gathered into a questionnaire by the dermatologist and/or gynaecologist investigators. This data was collected from patients' medical records with regard to menstrual cycles, contraception methods, the obstetrical history, screening for gynaecological cancers and sexually transmitted diseases, and the sexual life. Vulvar examinations were carried out as part of the usual follow-up. In total, 27 women (median age 35 years; range 19 to 72) were recruited and their data included in the study between January and December 2021. The gynaecological follow-up was reported as regular for 14 of the 27 (52%) women; 16/27 (59%) mentioned menstruating; 13/24 (51%) had already had at least one contraceptive treatment; 17/27 (63%) declared they had sexual intercourse at least once, most often with difficulties; and 10/27 (37%) had full-term pregnancies, with 1 to 4 children per woman (i.e., 21 deliveries: 8 caesarean sections and 13 vaginal deliveries). Eleven of the 21 women who had a vulvar examination during follow-up had a lesion at the time of the exam. According to French recommendations, the rate of screening for sexually transmitted diseases (STDs), cervical cancer, and breast cancer was 18% (all over 25 years old), 70%, and 100%, respectively.</p><p><strong>Conclusion: </strong>As for all patients, women with DEB need gynaecological follow-up during their life. A sexology consultation is also highly recommended to help with the psychosexual aspect of DEB and to inform patients about specific preventive measures to avoid lesions during the sexual act, for contraception and for STDs screening. Pregnancies and deliveries are possible even in women with severe disease, most often without major complications.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"140"},"PeriodicalIF":3.4,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11927290/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143677072","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":"Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.","authors":"Nadja Kaiser, Janine Magg, Thomas Nägele, Nicole Wolf, Ingeborg Krägeloh-Mann","doi":"10.1186/s13023-025-03606-6","DOIUrl":"10.1186/s13023-025-03606-6","url":null,"abstract":"<p><strong>Background: </strong>Genetic porphyrias, namely in their homozygous form, may cause a neurodevelopmental disorder which may even be the clinically dominant feature. But few cases have been described so far. The majority of neurodevelopmental disorders has a genetic cause and there is a big overlap of the clinical presentations due to unspecific symptoms. Additional specific clinical symptoms may enable a phenotypically orientated biochemical and genetic diagnostic approach. Skin lesions occurring in the neonatal period or the first years of life in a child with developmental delay may hint at a genetic porphyria.</p><p><strong>Methods: </strong>We describe the clinical features, biochemical and genetic findings in two new cases, sister and brother, of biallelic resp. homozygous variegate porphyria and review all case reports published until December 2023 after systematic searches in PubMed, MEDLINE, Cochrane and Web of Science.</p><p><strong>Results: </strong>A total of 19 patients with biallelic, largely homozygous variegate porphyria have so far been reported of whom 16 were confirmed by genetic testing. In 11 patients, neurodevelopmental problems were reported in addition to skin lesions. Additional symptoms were nystagmus, epileptic seizures as well as sensory neuropathy. Only 2 patients received a brain MRI showing a severe deficit of myelination at the age of 2-3 years suggesting that neurodevelopmental delay in HVP may be associated to hypomyelination. This article adds two cases of a genetic porphyria with developmental delay and epilepsy as well as skin lesions. In our two cases biochemistry revealed a porphyria and consecutive molecular genetic testing showed in each case a homozygous variant in the PPOX gene, which corresponds to a variegate porphyria. Interestingly, magnetic resonance imaging of the brain revealed a severe myelin deficit suggesting hypomyelination in both children.</p><p><strong>Conclusions: </strong>In children with a developmental disorder of unknown cause and early childhood epilepsy, an abnormally light-sensitive or fragile skin may indicate a primary genetic porphyria. Especially variegate porphyria with biallelic variants may present as neurodevelopmental disorder with hypomyelination.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"139"},"PeriodicalIF":3.4,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11924618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670448","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":"Trajectories of depression and anxiety in adults with rare disorders across 13 months during the COVID-19 pandemic.","authors":"Øyvind Halsøy, Stian Orm, Hugo Cogo-Moreira, Wendy K Silverman, Krister Fjermestad","doi":"10.1186/s13023-025-03633-3","DOIUrl":"10.1186/s13023-025-03633-3","url":null,"abstract":"<p><strong>Background: </strong>Adults with rare disorders experience multiple psychosocial risk factors beyond their medical symptoms, including impaired quality of life, social isolation, loneliness, and mental health problems. These risk factors were amplified during the COVID-19 pandemic, when health care appointments and social/vocational activities were reduced or cancelled. There is a lack of longitudinal data tracking this population over time, making the long term consequences uncertain.</p><p><strong>Methods: </strong>We conducted a monthly survey of 58 adults aged between 19 and 71 years (M = 45.1 years, SD = 12.6) with rare disorders across 13 months during the COVID-19 pandemic in Norway. We measured symptoms of anxiety and depression with the Hopkins Symptom Checklist-5. Covid fear was measured with the Coronavirus Anxiety Scale. We examined the mental health and covid fear trajectories across the 13 months with multi-level growth curve models with repeated measures at Level 1 and individuals at Level 2. To account for differences in governmental restrictions throughout the 13 months, we used the stringency index from The Oxford Covid-19 Government Response Tracker.</p><p><strong>Results: </strong>The growth models indicated stable levels of anxiety and depression over 13 months that were elevated compared to existing population data and were unpredicted by pandemic restrictions. The level of covid fear was significantly associated with the levels of anxious and depressive symptoms.</p><p><strong>Conclusions: </strong>The current study found elevated and stable trajectories of mental health symptoms throughout the pandemic for persons with rare disorders. This highlights the necessity of investigating the long-lasting influence of the pandemic on mental health among individuals with rare disorders.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"138"},"PeriodicalIF":3.4,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11924719/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670450","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 features and current management experience in Gorham-Stout disease: a systematic review.","authors":"Zilong Zhou, Tong Qiu, Jiangyuan Zhou, Zixin Zhang, Xue Gong, Xuepeng Zhang, Yuru Lan, Congxia Yang, Yujia Zhang, Shanshan Xiang, Yi Ji","doi":"10.1186/s13023-025-03649-9","DOIUrl":"10.1186/s13023-025-03649-9","url":null,"abstract":"<p><strong>Background: </strong>Gorham-Stout disease (GSD) is a rare complex lymphatic malformation. Since its initial description in 1838, only approximately 400 patients have been documented. There is currently no consensus on the diagnostic criteria or treatment options for GSD. The objective of this study was to review the clinical characteristics of patients with GSD and determine the current diagnostic and treatment models.</p><p><strong>Methods: </strong>A comprehensive search of the PubMed, Web of Science, Embase, and Cochrane Library databases was conducted to identify all relevant literature on GSD published over the decade from 2013 to 2023. The clinical information extracted from these publications was analyzed.</p><p><strong>Results: </strong>A total of 206 patients with GSD were included in the study, comprising 119 males, 81 females and 6 patients with unknown sex. The age of onset of patients was widely distributed, ranging from 0 to 77 years old. However, the majority of cases occurred in childhood (50.7%). Fifteen patients (10.3%) exhibited an onset age of less than 1 year. The average time from the onset of symptoms to diagnosis was 3.5 years. The number of patients with osteolysis in the axial bone was greater than that in the appendiceal bone (P < 0.05), and the number of patients with multiple osteolytic lesions was greater than that with single osteolytic lesions (77.2% vs. 22.8%). In general, GSD was more likely to occur in the spine (46.1%), ribs (28.6%), hip (23.3%), femur (18.4%), mandible (15.5%) and humerus (15.0%). Pain was the most common symptom, with 68.4% of patients reporting pain in the lesion area. Surgery (66.9%) and bisphosphonates (56.9%) are still the mainstream treatment methods, with a total of 33 (18.2%) patients receiving sirolimus. Pleural effusion was identified as a risk factor for patient mortality (P < 0.05).</p><p><strong>Conclusions: </strong>GSD is most commonly observed in children, with a slight male predisposition. It commonly manifests as multiple osteolysis of the axial bone, with pain being the most common symptom. The presence of pleural effusion indicates a serious condition that requires close monitoring to prevent mortality. Despite the advent of novel therapeutic modalities, the management of GSD remains an area in need of further investigation.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"134"},"PeriodicalIF":3.4,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658088","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":"Perspectives on long-term medical management of urea cycle disorders: insights from a survey of UK healthcare professionals.","authors":"Karolina M Stepien, Melanie McSweeney, Antonio Ochoa-Ferraro, Roshni Vara, Paul Riley, Megan Smith","doi":"10.1186/s13023-025-03647-x","DOIUrl":"10.1186/s13023-025-03647-x","url":null,"abstract":"<p><strong>Background: </strong>Urea cycle disorders (UCDs) are rare inborn errors of metabolism which impact the body's ability to detoxify ammonia produced during protein metabolism. In the UK, there is a nationally adopted guideline for the emergency management of hyperammonaemia in UCD patients, however there is no guideline for long‑term management, and treatment decisions are left to the discretion of individual healthcare professionals (HCPs).</p><p><strong>Results: </strong>Twenty-three HCPs, comprising 13 (57%) metabolic consultants, two (9%) specialist nurses, four (17%) pharmacists, and four (17%) dietitians, participated in interviews to document their attitudes and beliefs regarding the long‑term management of UCD patients, including their current practices, treatment goals, and clinical ambitions. The highest priority for 14/23 (61%) of HCPs was to minimise the risk of hyperammonaemia, however the ammonia level that HCPs advised they aimed for varied significantly, with some targeting above the upper limit of normal. Glycerol phenylbutyrate was the highest ranked ammonia scavenger treatment amongst HCPs for safety, tolerability, duration of scavenging action and reducing patient burden, and HCPs suggested that it would be the first-line treatment in an updated guideline. All prescribing HCPs agreed they would prefer their patients receive a licenced product rather than an unlicensed one for reasons including more reliable supply, greater insurance/legitimacy, and the reassurance of regulatory scrutiny and approval. However, analysis of NHS England's dispensing data between July 2023 and June 2024 indicated annual spend on nitrogen scavengers of £6.7 million with unlicensed specials accounting for £3 million (45%) of the total. Differences between HCPs in the awareness of clinically relevant characteristics of ammonia scavengers, including their sodium and propylene glycol content, were observed.</p><p><strong>Conclusions: </strong>To standardise the treatment of UCDs within and between metabolic centres in the UK, there is merit in developing a UK-specific treatment guideline.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"135"},"PeriodicalIF":3.4,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658092","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":"Texture analysis of cardiovascular MRI native T1 mapping in patients with Duchenne muscular dystrophy.","authors":"Mary Luz Mojica-Pisciotti, Tomáš Holeček, Věra Feitová, Lukáš Opatřil, Roman Panovský","doi":"10.1186/s13023-025-03662-y","DOIUrl":"10.1186/s13023-025-03662-y","url":null,"abstract":"<p><strong>Background: </strong>Duchenne muscular dystrophy (DMD) patients are monitored periodically for cardiac involvement, including cardiac MRI with gadolinium-based contrast agents (GBCA). Texture analysis (TA) offers an alternative approach to assess late gadolinium enhancement (LGE) without relying on GBCA administration, impacting DMD patients' care. The study aimed to evaluate the prognostic value of selected TA features in the LGE assessment of DMD patients.</p><p><strong>Results: </strong>We developed a pipeline to extract TA features of native T1 parametric mapping and evaluated their prognostic value in assessing LGE in DMD patients. For this evaluation, five independent TA features were selected using Boruta to identify relevant features based on their importance, least absolute shrinkage and selection operator (LASSO) to reduce the number of features, and hierarchical clustering to target multicollinearity and identify independent features. Afterward, logistic regression was used to determine the features with better discrimination ability. The independent feature inverse difference moment normalized (IDMN), which measures the pixel values homogeneity in the myocardium, achieved the highest accuracy in classifying LGE (0.857 (0.572-0.982)) and also was significantly associated with changes in the likelihood of LGE in a subgroup of patients with three yearly examinations (estimate: 23.35 (8.7), p-value = 0.008). Data are presented as mean (SD) or median (IQR) for normally and non-normally distributed continuous variables and numbers (percentages) for categorical ones. Variables were compared with the Welch t-test, Wilcoxon rank-sum, and Chi-square tests. A P-value < 0.05 was considered statistically significant.</p><p><strong>Conclusion: </strong>IDMN leverages the information native T1 parametric mapping provides, as it can detect changes in the pixel values of LGE images of DMD patients that may reflect myocardial alterations, serving as a supporting tool to reduce GBCA use in their cardiac MRI examinations.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"136"},"PeriodicalIF":3.4,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11924673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664283","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}