Orphanet Journal of Rare Diseases最新文献

{"title":"Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization.","authors":"Ying Chen, Run Yang, Xin Chen, Tianyu Zhang, Chenlong Li, Jing Ma","doi":"10.1186/s13023-025-03667-7","DOIUrl":"https://doi.org/10.1186/s13023-025-03667-7","url":null,"abstract":"<p><strong>Background: </strong>Treacher Collins syndrome (TCS) is a congenital disorder primarily caused by the mutation in the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene. However, the significance of many TCOF1 mutations remains uncertain.</p><p><strong>Results: </strong>We report two novel mutations identified in two TCS families and assess their pathogenicity alongside two previously reported mutations. Both novel mutations, c.2115dupG (p.T706DfsTer52) and c.2142+23_2142+52 del (p.A715VfsTer31), result in truncated proteins lacking nuclear location signals (NLSs), which impedes their entry into the nucleus and reduces mRNA expression level. Notably, the mutation c.2142+23_2142+52 del, leading to the retention of a 62 bp intron and disrupting RNA splicing, represents the first documented case of intron retention in TCS patients. Additionally, the previously reported mutation c.136 C> G (p.L46V) hinders protein nuclear location, while mutation c.1719del (p.N574TfsTer22) significantly decreases mRNA levels.</p><p><strong>Conclusions: </strong>Our research expands the spectrum of TCOF1 mutations and provides evidence clarifying their pathogenic nature. These findings are crucial for genetic counseling and prenatal diagnosis for TCS patients.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"184"},"PeriodicalIF":3.4,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001626/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998593","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":"COVID- 19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet.","authors":"Pablo Velasco Puyo, Soteroula Christou, Saveria Campisi, Maria A Rodríguez-Sánchez, Sara Reidel, Santiago Perez-Hoyo, Miriam Mota, Irene Savvidou, Anna Rekleiti, Alessandra Salvo, Vincenzo Voi, Giovanni Battista Ferrero, Giorgia Mandrile, Carmen Maria Gaglioti, Elena Cela, Beatriz Ponce-Salas, Eduardo J Bardón-Cancho, Pagona Flevari, Ersi Voskaridou-Dimoula, Erfan Nur, Bart J Biemond, Polynexi Delaporta, David Beneitez-Pastor, Anna Collado Gimbert, Anna Spasiano, Tatiana Besse-Hammer, Ioannis G Lafiatis, Laurence Dedeken, Simona Raso, Anna Ruiz-Llobet, Sabrina Bagnato, Veerle Labarque, Andreas Glenthøj, Giovan Battista Ruffo, Maria Elena Guerzoni, Kaoutar Hafraoui, Laura Pistoia, Rosamaria Rosso, Laura Tagliaferri, Paula Gonzalez-Urdiales, Fleur Samantha Benghiat, Mariane de Montalembert, Maria Jose Teles, Anna Vanderfaeillie, Elisa Bertoni, Daniela Cuzzubbo, Teresa Ferreira, Christopher J Saunders, Eftichia Stiakaki, Ann L Van de Velde, Michael D Diamantidis, Jean-Louis H Kerkhoffs, Marisa I Oliveira, Alessandra Quota, Roberta Russo, An Van Damme, María Argüello Marina, Mikael Lorite Reggiori, Anita W Rijneveld, Alexis Rodríguez Gallego, Raffaella Colombatti, Achille Iolascon, Ali Taher, Béatrice Gulbis, Noémi B A Roy, María Del Mar Mañú-Pereira","doi":"10.1186/s13023-025-03683-7","DOIUrl":"https://doi.org/10.1186/s13023-025-03683-7","url":null,"abstract":"<p><strong>Background: </strong>Despite several publications covering patients from multiple centers, no international registry covered all patients with red blood cell diseases (RBCD) affected by COVID- 19. The ERN-EuroBloodNet's registry provided real-time registration of SARS-CoV- 2 patients with RBCD, promoting timely disease-specific knowledge sharing during the pandemic's early stages.</p><p><strong>Procedures: </strong>The study evaluated patient distribution, the infection across different RBCDs, and severity risk factors across similar healthcare systems, using data collected from the ERN-EuroBloodNet's REDCap platform.</p><p><strong>Results: </strong>From April 2020 to April 2023, 681 infections were recorded among 663 patients, of which 373 had transfusion-dependent thalassemia or non-transfusion-dependent thalassemia (TDT/NTDT), and 269 had sickle cell disease (SCD). SCD patients had a higher incidence of COVID- 19 than those with TDT/NTDT (10.5 vs. 4.8 COVID/100 patients). Notably, 92% of the cases were mild, with neither age nor the specific RBCD affecting severity. The number of comorbidities, notably obesity and hypertension, that patients had prior to infection was associated with more severe COVID- 19. During the infection, the presence of vaso-occlusive crises, acute chest syndrome, kidney failure, and ground-glass opacities on chest tomography scans were associated with a more severe clinical picture. The vaccination rate (32%) mirrored that of the general population and showed a protective effect against severe COVID- 19. The observed mortality rate was 0.7%, aligning with Europe's general population.</p><p><strong>Conclusion: </strong>SARS-CoV- 2 infection in SCD and TDT/NTDT patients is mild and without higher mortality than the general population. The ERN-Eurobloodnet's registry collaborative structure exemplifies the power of international cooperation in tackling rare diseases, especially during health emergencies.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"183"},"PeriodicalIF":3.4,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972424","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":"Self-reported access to specialty clinics and receipt of health surveillance among U.S. patients with neurofibromatosis 1: a national survey.","authors":"Vanessa L Merker, Yidan Ma, Lori B Chibnik, Heather B Radtke, Kate Kelts, Kaleb Yohay, Nicole J Ullrich, Scott R Plotkin, Justin T Jordan","doi":"10.1186/s13023-025-03677-5","DOIUrl":"https://doi.org/10.1186/s13023-025-03677-5","url":null,"abstract":"<p><strong>Background: </strong>Neurofibromatosis 1 (NF1) is a rare, neurogenetic disorder predisposing individuals to multiple tumors and other issues requiring expert care and regular health monitoring. We sought to assess U.S. patients' access to specialized NF1 clinics and receipt of evidence-informed health surveillance.</p><p><strong>Methods: </strong>An online survey was distributed to NF Registry participants in May 2021. Rate of NF1 clinic attendance and self-reported receipt of health surveillance amongst NF Registry participants was estimated using inverse propensity scores. Differences in these outcomes based on participant demographics were assessed using weighted logistic regression and robust linear regression, respectively.</p><p><strong>Results: </strong>322 individuals responded (160 adults, 162 parents; 4.7% overall response rate). We estimate that 51.7% of children and 35.6% of adults attend NF1 clinics. Younger children were more likely to attend an NF1 clinic, as were adults living in urban areas, with a college degree or higher, or with a household income ≥ $130,000 (all ps < 0.05). Completion rates for each individual health surveillance evaluation ranged from 41 to 79% for children and 33-61% for adults. Higher rates of recommended evaluations were reported by both adults and children who attend a specialized NF1 clinic, non-Hispanic White adults, and adults with commercial or Medicare insurance (all ps < 0.05).</p><p><strong>Conclusions: </strong>Adults with NF1 experience significant sociodemographic disparities in care, and patients of all ages attending NF1 specialty clinics receive more recommended health surveillance. Given the limited access to specialty NF clinics, quality improvement efforts are needed to increase access for underserved adults and improve provision of recommended health surveillance outside specialty clinics.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"185"},"PeriodicalIF":3.4,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004880/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033511","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":"Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia.","authors":"I-Chih Ling, Dau-Ming Niu, Chia-Feng Yang, Cheng-Yu Lee, Sheng-Bin Liang, Yann-Jang Chen","doi":"10.1186/s13023-025-03687-3","DOIUrl":"https://doi.org/10.1186/s13023-025-03687-3","url":null,"abstract":"<p><strong>Background: </strong>Methylmalonic acidemia (MMA) is a rare autosomal recessive disorder, that causes multisystem damage by accumulating toxic metabolites. These metabolites, particularly affecting nerve cells, contribute to suboptimal neurodevelopment in MMA patients. While fluctuations in these toxic metabolites are common in MMA patients, their precise impact on neurodevelopment remains unclear.</p><p><strong>Results: </strong>This study enrolled 20 MMA patients, comprising 14 vitamin B12 non-responsive (B12-NR) type and 6 vitamin B12 responsive (B12-R) type. Diverse parameters were assessed, including methylmalonic acid (MA), methylcitric acid (MCA), propionylcarnitine (C3), acetylcarnitine (C2), ammonia, glycine, and lactate. Cognitive function was evaluated using the Bayley-III and Wechsler intelligence scale, and brain imaging was conducted through magnetic resonance spectroscopy (MRS). The frequency and extent of fluctuations in toxic organic acids were computed based on blood test results. B12-NR type patients exhibited elevated levels of MA, MCA, C3, C3/C2 ratio and lactate, with more frequent and significant MA, MCA and C3 fluctuation than B12-R type patients. Brain imaging revealed central nervous system demyelination in B12-NR type patients, while B12-R type patients displayed normal MRS results. B12-R type patients exhibited significantly better neurocognitive outcomes, with higher scores in all domains.</p><p><strong>Conclusion: </strong>Patients with B12-NR type MMA exhibit worse neurodevelopmental outcomes and more pronounced biochemical imbalances compared to those with B12-R type. Significant correlations were observed between higher fluctuation frequencies of toxic metabolites and lower developmental and IQ scores. These findings emphasize the importance of targeted strategies to manage organic acid fluctuations for improving neurodevelopmental outcomes in MMA.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"179"},"PeriodicalIF":3.4,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11998238/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144047044","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":"Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms.","authors":"Shlomit Ezer, Nathan Ronin, Shira Yanovsky-Dagan, Shahar Rotem-Bamberger, Orli Halstuk, Yair Wexler, Zohar Ben-Moshe, Inbar Plaschkes, Hadar Benyamini, Ann Saada, Adi Inbal, Tamar Harel","doi":"10.1186/s13023-025-03709-0","DOIUrl":"https://doi.org/10.1186/s13023-025-03709-0","url":null,"abstract":"<p><strong>Background: </strong>ATAD3A, a nuclear gene encoding the ATAD3A protein, has diverse roles in mitochondrial processes, encompassing mitochondrial dynamics, mitochondrial DNA maintenance, metabolic pathways and inter-organellar interactions. Pathogenic variants in this gene cause neurological diseases in humans with recognizable genotype-phenotype correlations. Yet, gaps in knowledge remain regarding the underlying pathogenesis.</p><p><strong>Methods: </strong>To further investigate the gene function and its implication in health and disease, we utilized CRISPR/Cas9 genome editing to generate a knockout model of the zebrafish ortholog gene, atad3. We characterized the phenotype of the null model, performed mitochondrial and functional tests, and compared the transcriptome of null embryos to their healthy siblings.</p><p><strong>Results: </strong>Analysis of atad3-null zebrafish embryos revealed microcephaly, small eyes, pericardial edema and musculature thinning, closely mirroring the human rare disease phenotype. Larvae exhibited delayed hatching and embryonic lethality by 13 days post-fertilization (dpf). Locomotor activity, ATP content, mitochondrial content, and mitochondrial activity were all reduced in the mutant embryos. Transcriptome analysis at 3 dpf via RNA-sequencing indicated decline in most mitochondrial pathways, accompanied by a global upregulation of cytosolic tRNA synthetases, presumably secondary to mitochondrial stress and possibly endoplasmic reticulum (ER)-stress. Differential expression of select genes was corroborated in fibroblasts from an affected individual.</p><p><strong>Conclusions: </strong>The atad3-null zebrafish model emerges as a reliable representation of human ATAD3A-associated disorders, with similarities in differentially expressed pathways and processes. Furthermore, our study underscores mitochondrial dysfunction as the primary underlying pathogenic mechanism in ATAD3A-associated disorders and identifies potential readouts for therapeutic studies.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"181"},"PeriodicalIF":3.4,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001410/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037642","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":"Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus.","authors":"Holm Schneider, Michael Schneider, Massimiliano Lia, Dorothy K Grange, Smail Hadj-Rabia, Angus Clarke, Mary Fete, Agnes Jaulent, Marlene Guiraud, Anthony Odibo, Florian Faschingbauer","doi":"10.1186/s13023-025-03710-7","DOIUrl":"https://doi.org/10.1186/s13023-025-03710-7","url":null,"abstract":"<p><strong>Background: </strong>X-linked hypohidrotic ectodermal dysplasia (XLHED) is a severe genetic disorder that may be treatable with short-term protein replacement therapy during fetal development. This is currently being investigated in a multicenter clinical trial. Affected fetuses can be identified by the number of tooth germs during a routine ultrasound scan in mid-gestation. To understand the attitudes of female XLHED carriers towards prenatal treatment and ultrasonographic screening of the fetus, we analyzed an earlier and a very recent survey among those women and the actual decisions of potential trial participants.</p><p><strong>Methods: </strong>Initial analyses were based on a self-administered survey of 167 female XLHED carriers conducted in 2011. A similar questionnaire was completed 12 years later by 72 female XLHED carriers aged 18-45 years. Subsequently, both the path to diagnosis and further decision-making of the first 33 pregnant women screened for participation in the EDELIFE trial were investigated.</p><p><strong>Results: </strong>Most women diagnosed with XLHED considered this disease as an obstacle to having children: About one third had decided not to have children, another third would monitor their pregnancy using invasive genetic testing. In both surveys, a small number of women stated that they would consider termination of pregnancy depending on the test result. When it came to participating in the clinical trial, 80% were likely to take part (17% moderately likely, 63% very likely). Among the first pregnant women screened for this trial, 48% underwent invasive tests, while 52% relied on non-invasive tooth germ imaging for fetal XLHED diagnosis. One pregnancy with an affected fetus was terminated, another one resulted in a miscarriage, one woman declined to participate in the trial, and 12 women (80%) decided to have the affected fetuses treated.</p><p><strong>Conclusion: </strong>Ultrasound-based screening and prenatal treatment of the fetus are viewed positively by the vast majority of female XLHED carriers.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"182"},"PeriodicalIF":3.4,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144030034","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":"Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy.","authors":"Eiman Abdoalsadig, Merwa Hamid, Allison Peck, Leepakshi Johar, Virginia Kimonis","doi":"10.1186/s13023-025-03567-w","DOIUrl":"https://doi.org/10.1186/s13023-025-03567-w","url":null,"abstract":"<p><strong>Background: </strong>VCP disease, also known as multisystem proteinopathy, is a rare, autosomal dominant, adult-onset, neuromuscular disease that is caused by variants in the valosin-containing protein (VCP) gene. VCP disease may exhibit one or more of the following primary features: inclusion body myopathy, Paget's disease of bone (PDB), Frontotemporal dementia, and amyotrophic lateral sclerosis. Due to its progressive nature, death normally occurs in their sixties due to respiratory and cardiac failure. The purpose of this study is to utilize the Cure VCP Disease patient registry hosted by the Coordination of Rare Diseases at Sanford (CoRDS) to conduct a prospective natural history study.</p><p><strong>Methods: </strong>Seventy-nine participants enrolled in the patient registry and answered demographic, VCP variant type, Patient-reported outcome measures (PROMs), and quality of life (QOL) questionnaires over the course of 3 years. We additionally investigated if any sex differences existed and if genotype-phenotype correlations affected the rate of progression of the varying clinical manifestations.</p><p><strong>Results: </strong>Overall, participants' mobility declined significantly as the disease progressed. Participants reported a 0.6% decline in upper extremity function, 1.2% decline in lower extremity function, and 0.3% decline in cognitive function per year of age. Furthermore, participants reported a 1.6% decline in upper and lower extremity function and a 0.1% decline in cognitive function per year of disease duration. The highest PROMs correlations were noted between overall health and lower extremity function, upper extremity function, fatigue, and the ability to perform vigorous activities. Genotype-phenotype correlations revealed no significant differences except for the absence of PDB in the p.Arg159Cys group.</p><p><strong>Conclusion: </strong>The VCP CoRDS Registry was found to be a valuable tool for monitoring the QOL in patients with VCP disease and capturing patient perspectives for future clinical trials.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"178"},"PeriodicalIF":3.4,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11998231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037399","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":"Ultrasound-guided transbronchial biopsy in the diagnosis of fibrosing mediastinitis-associated pulmonary hypertension.","authors":"Yu Zhang, Han-Xiang Song, Yong-Jia Qi, Nan-Nan Sun, Zan-Sheng Huang, Wan-Lei Fu, Jing Zhang, Felix J F Herth, Ye Fan","doi":"10.1186/s13023-025-03695-3","DOIUrl":"https://doi.org/10.1186/s13023-025-03695-3","url":null,"abstract":"<p><strong>Background: </strong>Fibrosing mediastinitis is a rare benign disease frequently complicated by pulmonary hypertension. A definitive diagnosis for fibrosing mediastinitis-associated pulmonary hypertension (FM-PH) and its etiologies necessitates mediastinal biopsy and subsequent pathological assessment. Endobronchial ultrasound (EBUS)-guided transbronchial mediastinal cryobiopsy is a recently developed technique that provides diagnostic advantages over standard needle biopsy, particularly in benign mediastinal disorders. Nevertheless, their safety and efficacy in diagnosing FM-PH remain elusive.</p><p><strong>Methods: </strong>We retrospectively studied patients with mediastinal lesion and pulmonary vascular compression who underwent both transbronchial needle aspiration and mediastinal cryobiopsy with EBUS guidance. Diagnostic yields of FM-PH and its etiologies, along with procedure-related adverse events, were analyzed. Immunohistochemical study was conducted to identify immunological properties of FM-PH.</p><p><strong>Results: </strong>Of the 529 patients with mediastinal lesions, 80 exhibited pulmonary vessel compression, including 10 who were ultimately diagnosed with FM-PH following mediastinal biopsy and right heart catheterization. Cryobiopsy showed a higher diagnostic yield for FM-PH compared to needle aspiration (100% versus 40%, p = 0.011). Disease etiologies included pneumoconiosis in 5 cases, tuberculosis in 3, and idiopathic FM-PH in the remaining 2. Cryobiopsy appeared to be superior to needle biopsy for etiological diagnosis, although this difference was not statistically significant (80% versus 60%, p = 0.628). Immunohistochemical analyses of cryosamples revealed mixed inflammatory infiltrates of B and T lymphocytes, as well as macrophages, surrounding or within FM-PH lesions. There was no significant bleeding or other complications.</p><p><strong>Conclusion: </strong>Transbronchial mediastinal cryobiopsy might be a safe and effective diagnostic tool for FM-PH, offering valuable information for personalized treatment.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"180"},"PeriodicalIF":3.4,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001500/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144047052","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":"A population-based cohort study of mitochondrial disease and mental health conditions in Ontario, Canada.","authors":"Laura C Rosella, Mackenzie Hurst, Emmalin Buajitti, Thomas Samson, L Trevor Young, Ana C Andreazza","doi":"10.1186/s13023-025-03688-2","DOIUrl":"https://doi.org/10.1186/s13023-025-03688-2","url":null,"abstract":"<p><strong>Background: </strong>Mitochondrial disease has been linked to mental health disorder in clinical cohorts and post-mortem studies. However, a lack of population-level studies examining the relationship between mitochondrial disease and mental health has resulted in an evidence gap and creates a challenge for identifying and addressing care needs for the mitochondrial disease population. Using multiple linked population health databases in a single-payer health system that covers the full population, this study aimed to investigate the prevalence of mood disorders and other mental health conditions in patients with mitochondrial disease and to examine the joint impact of mitochondrial disease and mental health conditions on healthcare use and health system costs. To contextualize these findings, a clinical comparator cohort of multiple sclerosis (MS) patients was analyzed.</p><p><strong>Results: </strong>Overall, co-prevalent mental health conditions are common in the mitochondrial population. Double the proportion of patients in the mitochondrial disease cohort had a co-prevalent mental health illness as compared to the MS population (18% vs 9%). Healthcare utilization was highest among patients with co-prevalent mitochondrial disease and mental illness, with 49% hospitalized within 1 year prior to cohort entry (compared to 12% of MS patients with no mental health condition). Costs were likewise highest among mitochondrial disease patients with mental health conditions.</p><p><strong>Conclusions: </strong>This study presents the first comprehensive, population-wide cohort study of mitochondrial disease and co-prevalent mental health conditions. Our findings demonstrate a high burden of mental health conditions among mitochondrial disease patients, with high associated health care needs. We also find that patients with concurrent mental illness and mitochondrial disease represent a high-burden, high-cost population in a single-payer health insurance setting.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"177"},"PeriodicalIF":3.4,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11995528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015078","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":"Are adult cystic fibrosis patients satisfied with medication treatment?","authors":"Esen Deniz Akman, Nadir Yalçın, Oğuz Karcıoğlu, Ebru Damadoğlu, Ali Fuat Kalyoncu, Kutay Demirkan","doi":"10.1186/s13023-025-03676-6","DOIUrl":"https://doi.org/10.1186/s13023-025-03676-6","url":null,"abstract":"<p><strong>Background: </strong>Treatment satisfaction can be described as the patient's experience in patients with cystic fibrosis (CF). It can be influenced using modulators and clinical characteristics. The aims of this study were to evaluate and compare adult CF patients with and without modulators regarding treatment satisfaction, related factors and to manage their drug related problems (DRPs).</p><p><strong>Methods: </strong>A single-center prospective cohort study was conducted between June 2023 and January 2024. Treatment Satisfaction Questionnaire for Medication (TSQM 1.4), including effectiveness, side effects, convenience, global satisfaction domains, CF Questionnaire-Revised (CFQ-R), and Medication Adherence Report Scale were applied and assessed with and without modulator therapy groups. The relationship between clinical characteristics and TSQM was analyzed by correlations and regression analysis. Recommendations on DRPs identified by clinical pharmacists were made to the physicians and patients and classified according to Pharmaceutical Care Network Europe (PCNE v9.1).</p><p><strong>Results: </strong>A total of 110 patients with 51 modulator therapy and 59 without modulator therapy were included. The mean global satisfaction score of modulator users was found to be 19.733 (p < 0.001) points higher than non-users. When the CFQ-R treatment burden score improved by 1point, global satisfaction score increased by 0.233 points (p < 0.001). When the number of hospitalizations increased by 1 day, the global satisfaction score decreased by 4.751 points (p < 0.001). A total of 84 DRPs were identified, and 69 (82.1%) of them were resolved.</p><p><strong>Conclusions: </strong>Treatment satisfaction in adult CF patients is influenced by modulators, treatment burden, and clinical factors, so access to modulators is important. This is the first study to classify DRPs according to PCNE in CF. Clinical pharmacists contribute to the management of CF.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"176"},"PeriodicalIF":3.4,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11993955/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015079","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}