Pub Date : 2025-02-01DOI: 10.1016/j.ymgme.2024.108635
Julia Alton , Ikuko Kaku , Jerry Walter , Jack Johnson , Christopher J. Wingrove , Lisa Bashorum , Dusica Curcic , Nanae Goto , Jayne Gershkowitz
{"title":"Exploring the lived experiences and care perceptions of females living with Fabry disease in the US, Canada, and Japan","authors":"Julia Alton , Ikuko Kaku , Jerry Walter , Jack Johnson , Christopher J. Wingrove , Lisa Bashorum , Dusica Curcic , Nanae Goto , Jayne Gershkowitz","doi":"10.1016/j.ymgme.2024.108635","DOIUrl":"10.1016/j.ymgme.2024.108635","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108635"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01Epub Date: 2025-01-03DOI: 10.1016/j.ymgme.2025.109010
Rodrigo T Starosta, Lethicia Campos Ferraro, Gabriela Ponte de Mattos, Lucas Ferreira Teixeira, Fabiano de Oliveira Poswar, Matheus Michalczuk, Mário Reis Álvares-da-Silva, Ida Vanessa Doederlein Schwartz
Gaucher disease (GD) is a rare genetic disorder with multi-system involvement. Liver fibrosis is a long-term complication of GD, potentially leading to cirrhosis, end-stage liver disease, and hepatocellular carcinoma. There are currently no validated clinical tools for the monitoring of liver fibrosis in patients with GD. In this study, we aim at assessing the validity of common fibrosis-predicting scores, developed for other diseases, for the use in GD, using transient elastography as a gold-standard, as well as developing the first GD-specific liver fibrosis predicting score. We enrolled 19 adult patients with GD who had been on treatment for a minimum of 1 year on enzyme replacement therapy or substrate reduction therapy and who had no evidence of any other liver disease except GD or metabolic-associated steatotic liver disease (MASLD), which is a common comorbidity of GD. We analyzed the correlation between liver stiffness and genotype, treatment modality (imiglucerase or other therapies), clinical severity, and clinical laboratory tests. We found that the common liver fibrosis scores APRI, FIB-4, and NFS did not accurately predict liver fibrosis in people with GD. We also found that male sex, the DS3 score, AST, and GGT levels significantly correlated with liver stiffness, and used these to create a simple but accurate fibrosis-predicting score specifically for GD (the "Gaucher liver fibrosis score", or GLFS), with high accuracy (AUC = 0.8571, p = 0.0206). We believe that our new GLFS may be used in clinical practice to help prioritize GD patients for closer monitoring of liver fibrosis.
戈谢病是一种罕见的多系统累及的遗传性疾病。肝纤维化是GD的长期并发症，可能导致肝硬化、终末期肝病和肝细胞癌。目前还没有有效的临床工具来监测GD患者的肝纤维化。在这项研究中，我们的目标是评估用于其他疾病的常见纤维化预测评分的有效性，使用瞬变弹性成像作为金标准，以及开发第一个GD特异性肝纤维化预测评分。我们招募了19名患有GD的成年患者，他们接受了至少1年的酶替代治疗或底物减少治疗，除了GD或代谢相关脂肪变性肝病（MASLD）外，没有任何其他肝脏疾病的证据，这是GD的常见合并症。我们分析了肝僵硬与基因型、治疗方式（依米格鲁糖酶或其他治疗）、临床严重程度和临床实验室检查之间的相关性。我们发现常见肝纤维化评分APRI、FIB-4和NFS不能准确预测GD患者的肝纤维化。我们还发现，男性、DS3评分、AST和GGT水平与肝脏硬度显著相关，并利用这些数据创建了一个简单但准确的GD纤维化预测评分（“高雪肝纤维化评分”，或GLFS），准确度很高（AUC = 0.8571, p = 0.0206）。我们相信我们的新GLFS可用于临床实践，以帮助优先考虑GD患者，以便更密切地监测肝纤维化。
{"title":"Predicting liver fibrosis in Gaucher disease: Investigation of contributors and development of a clinically applicable Gaucher liver fibrosis score.","authors":"Rodrigo T Starosta, Lethicia Campos Ferraro, Gabriela Ponte de Mattos, Lucas Ferreira Teixeira, Fabiano de Oliveira Poswar, Matheus Michalczuk, Mário Reis Álvares-da-Silva, Ida Vanessa Doederlein Schwartz","doi":"10.1016/j.ymgme.2025.109010","DOIUrl":"10.1016/j.ymgme.2025.109010","url":null,"abstract":"<p><p>Gaucher disease (GD) is a rare genetic disorder with multi-system involvement. Liver fibrosis is a long-term complication of GD, potentially leading to cirrhosis, end-stage liver disease, and hepatocellular carcinoma. There are currently no validated clinical tools for the monitoring of liver fibrosis in patients with GD. In this study, we aim at assessing the validity of common fibrosis-predicting scores, developed for other diseases, for the use in GD, using transient elastography as a gold-standard, as well as developing the first GD-specific liver fibrosis predicting score. We enrolled 19 adult patients with GD who had been on treatment for a minimum of 1 year on enzyme replacement therapy or substrate reduction therapy and who had no evidence of any other liver disease except GD or metabolic-associated steatotic liver disease (MASLD), which is a common comorbidity of GD. We analyzed the correlation between liver stiffness and genotype, treatment modality (imiglucerase or other therapies), clinical severity, and clinical laboratory tests. We found that the common liver fibrosis scores APRI, FIB-4, and NFS did not accurately predict liver fibrosis in people with GD. We also found that male sex, the DS3 score, AST, and GGT levels significantly correlated with liver stiffness, and used these to create a simple but accurate fibrosis-predicting score specifically for GD (the \"Gaucher liver fibrosis score\", or GLFS), with high accuracy (AUC = 0.8571, p = 0.0206). We believe that our new GLFS may be used in clinical practice to help prioritize GD patients for closer monitoring of liver fibrosis.</p>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":" ","pages":"109010"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142951474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.ymgme.2024.108693
Dominic P. D'Agostino, Angela Poff, Janine M. DeBlasi, Sara E. Moss, Natalya Thomas
{"title":"Ketone metabolic therapy to improve muscle function and coordination in a mouse model of infantile onset Pompe disease","authors":"Dominic P. D'Agostino, Angela Poff, Janine M. DeBlasi, Sara E. Moss, Natalya Thomas","doi":"10.1016/j.ymgme.2024.108693","DOIUrl":"10.1016/j.ymgme.2024.108693","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108693"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.ymgme.2024.108701
Mollie Dewsbury , Heather J. Church , Simon A. Jones , Karolina M. Stepien , Iain P. Hargreaves
{"title":"Secondary mitochondrial dysfunction in three lysosomal disorders","authors":"Mollie Dewsbury , Heather J. Church , Simon A. Jones , Karolina M. Stepien , Iain P. Hargreaves","doi":"10.1016/j.ymgme.2024.108701","DOIUrl":"10.1016/j.ymgme.2024.108701","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108701"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.ymgme.2024.108699
Patrick B. Deegan , Calum Grant , Elizabeth Morris , Rand Dubis , Amanda Worker , Hadley Mahon , Peter Fish
{"title":"Algorithmic case finding approaches for Gaucher disease type 1 in primary care records","authors":"Patrick B. Deegan , Calum Grant , Elizabeth Morris , Rand Dubis , Amanda Worker , Hadley Mahon , Peter Fish","doi":"10.1016/j.ymgme.2024.108699","DOIUrl":"10.1016/j.ymgme.2024.108699","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108699"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.ymgme.2024.108657
Abdelaati Berrachid , Karima Lafhal , Miloud Hammoud , Maroua Jakani , Samira Najeh , Imane Assiri , M.Y. Ahmed el amiri , Naima Fdil
{"title":"The bioactive potential of Rosa damascena mill: Preventive chelating effects and the role of ecosystem dynamics in inherited diseases","authors":"Abdelaati Berrachid , Karima Lafhal , Miloud Hammoud , Maroua Jakani , Samira Najeh , Imane Assiri , M.Y. Ahmed el amiri , Naima Fdil","doi":"10.1016/j.ymgme.2024.108657","DOIUrl":"10.1016/j.ymgme.2024.108657","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108657"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143135165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.ymgme.2024.108721
Can Ficicioglu , Elizabeth Berry-Kravis , Walla Al-Hertani , Raymond Y. Wang , Marc Patterson , Loren Pena , Kristina Julich , Damara Ortiz , Paula Schleifer , Paul Hillman , Caroline A. Hastings , Blair Orr , Ronan J. O'Reilly , Daniel Gallo
{"title":"Arimoclomol safety profile in the treatment of Niemann-Pick disease type C in a real-world setting: Long-term safety data from an expanded access program in the United States","authors":"Can Ficicioglu , Elizabeth Berry-Kravis , Walla Al-Hertani , Raymond Y. Wang , Marc Patterson , Loren Pena , Kristina Julich , Damara Ortiz , Paula Schleifer , Paul Hillman , Caroline A. Hastings , Blair Orr , Ronan J. O'Reilly , Daniel Gallo","doi":"10.1016/j.ymgme.2024.108721","DOIUrl":"10.1016/j.ymgme.2024.108721","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108721"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.ymgme.2024.108718
Ulla Feldt-Rasmussen , Gere Sunder-Plassmann , Aneal Khan , Biliana O. Veleva-Rotse , Joseph D. Giuliano , Hai Jiang , Vipul Jain , Jasmine Rutecki , Aleš Linhart
{"title":"FollowME Fabry Pathfinders registry: Patient-reported outcomes in a cohort of patients on migalastat treatment for median 4 years","authors":"Ulla Feldt-Rasmussen , Gere Sunder-Plassmann , Aneal Khan , Biliana O. Veleva-Rotse , Joseph D. Giuliano , Hai Jiang , Vipul Jain , Jasmine Rutecki , Aleš Linhart","doi":"10.1016/j.ymgme.2024.108718","DOIUrl":"10.1016/j.ymgme.2024.108718","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108718"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.ymgme.2024.108717
Ulla Feldt-Rasmussen , Aleš Linhart , Biliana O. Veleva-Rotse , Joseph D. Giuliano , Hai Jiang , Vipul Jain , Caroline Martinez , Olivier Lidove
{"title":"Treatment satisfaction in patients with Fabry disease: Patient-reported outcomes from the followME Fabry Pathfinders registry and the SATIS-Fab study","authors":"Ulla Feldt-Rasmussen , Aleš Linhart , Biliana O. Veleva-Rotse , Joseph D. Giuliano , Hai Jiang , Vipul Jain , Caroline Martinez , Olivier Lidove","doi":"10.1016/j.ymgme.2024.108717","DOIUrl":"10.1016/j.ymgme.2024.108717","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108717"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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