Pub Date : 2026-02-19DOI: 10.1186/s13023-026-04212-w
Lucia De Franceschi, Carla Galvani, Giovan Battista Ruffo, Raffaella Colombatti, Giovanna Graziadei, Giovanni Palazzi, Donatella Venturelli, Valeria Maria Pinto, Alessandra Quota, Annalisa Scopinaro, Raffaele Vindigni, Paola Chesi, Gian Luca Forni, Antonia Gigante, Antonietta Cappuccio, Alessandra Fiorencis, Francesca Begali, Jacopo Ceolan, Silvia Vitale, Simone Villaboni, Maria Giulia Marini
Background: Sickle cell disease (SCD) increasingly requires a holistic approach. Narratives have been used to complement clinical and observational findings related to quality of life (QoL). The "Sickle Cell Anemia Narrations" project aimed to help frame the illness burden and QoL of the multi-ethnic population with SCD in Italy via a narrative approach.
Results: Twenty-one adult patients with SCD and 10 informal caregivers from seven SCD centers and two Patient Associations volunteered for this project. Researchers collected anonymous narratives and independently analyzed them through content analysis. Lack of SCD knowledge on multiple levels was found to strongly impact the illness experience independent of ethnicity. Fear of stigma at school, the challenging management of vaso-occlusive crises, and a lack of SCD knowledge at the workplace were reported. Fifty-five percent of participants reported a lack of SCD knowledge among healthcare professionals working outside the expert centers and 33% reported misdiagnosis. Caregivers highlighted the lack of coordination among territorial healthcare facilities.
Conclusions: Our findings confirm that SCD represents a critical burden for patients and caregivers and indicate that lack of SCD knowledge may bolster the barriers to care, thus revealing the urgent need to enhance awareness to foster inclusion and quality of care.
{"title":"Narratives unveil knowledge and awareness-related issue, reinforcing patients' self-identity in sickle cell disease.","authors":"Lucia De Franceschi, Carla Galvani, Giovan Battista Ruffo, Raffaella Colombatti, Giovanna Graziadei, Giovanni Palazzi, Donatella Venturelli, Valeria Maria Pinto, Alessandra Quota, Annalisa Scopinaro, Raffaele Vindigni, Paola Chesi, Gian Luca Forni, Antonia Gigante, Antonietta Cappuccio, Alessandra Fiorencis, Francesca Begali, Jacopo Ceolan, Silvia Vitale, Simone Villaboni, Maria Giulia Marini","doi":"10.1186/s13023-026-04212-w","DOIUrl":"10.1186/s13023-026-04212-w","url":null,"abstract":"<p><strong>Background: </strong>Sickle cell disease (SCD) increasingly requires a holistic approach. Narratives have been used to complement clinical and observational findings related to quality of life (QoL). The \"Sickle Cell Anemia Narrations\" project aimed to help frame the illness burden and QoL of the multi-ethnic population with SCD in Italy via a narrative approach.</p><p><strong>Results: </strong>Twenty-one adult patients with SCD and 10 informal caregivers from seven SCD centers and two Patient Associations volunteered for this project. Researchers collected anonymous narratives and independently analyzed them through content analysis. Lack of SCD knowledge on multiple levels was found to strongly impact the illness experience independent of ethnicity. Fear of stigma at school, the challenging management of vaso-occlusive crises, and a lack of SCD knowledge at the workplace were reported. Fifty-five percent of participants reported a lack of SCD knowledge among healthcare professionals working outside the expert centers and 33% reported misdiagnosis. Caregivers highlighted the lack of coordination among territorial healthcare facilities.</p><p><strong>Conclusions: </strong>Our findings confirm that SCD represents a critical burden for patients and caregivers and indicate that lack of SCD knowledge may bolster the barriers to care, thus revealing the urgent need to enhance awareness to foster inclusion and quality of care.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":"72"},"PeriodicalIF":3.5,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12922242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146227607","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}
Pub Date : 2026-02-19DOI: 10.1186/s13023-026-04268-8
Kevin Bloch-Maier, Sophie-Myriam Dridi, Arek Sulukdjian, Anne-Laure Ejeil
{"title":"Correction to: Xanthogranulomatous osteomyelitis of the jaw in a young boy: a case report.","authors":"Kevin Bloch-Maier, Sophie-Myriam Dridi, Arek Sulukdjian, Anne-Laure Ejeil","doi":"10.1186/s13023-026-04268-8","DOIUrl":"10.1186/s13023-026-04268-8","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":"67"},"PeriodicalIF":3.5,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12918376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146227595","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":"Symptoms and correlates of depression and anxiety in children and adolescents with juvenile idiopathic arthritis.","authors":"Napapas Yothakol, Maynart Sukharomana, Sasitorn Chantaratin, Sirirat Charuvanij","doi":"10.1186/s13023-026-04257-x","DOIUrl":"https://doi.org/10.1186/s13023-026-04257-x","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146220666","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}
Pub Date : 2026-02-16DOI: 10.1186/s13023-026-04227-3
Jana Zang, Charlotte Dumitrascu, Julia Glinzer, Deike Weiss, Jonas Denecke, Christina Pflug, Almut C Niessen, Paula Steffens, Jessika Johannsen
{"title":"Swallowing development in infants and toddlers with spinal muscular atrophy following therapy compared to healthy controls: the prospective controlled DySMA trial.","authors":"Jana Zang, Charlotte Dumitrascu, Julia Glinzer, Deike Weiss, Jonas Denecke, Christina Pflug, Almut C Niessen, Paula Steffens, Jessika Johannsen","doi":"10.1186/s13023-026-04227-3","DOIUrl":"https://doi.org/10.1186/s13023-026-04227-3","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146207445","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}
Pub Date : 2026-02-16DOI: 10.1186/s13023-026-04265-x
Ekin Özsaydı Aktaşoğlu, Hüseyin Baran Özdemir, Mehmet Cüneyt Özmen, Aslı İnci, İlyas Okur, Fatih Süheyl Ezgü, Leyla Tümer
Background: Gyrate atrophy of the choroid and retina (GACR) is a rare amino acid metabolism disorder. Night blindness, cataracts, vision loss, and impaired cognitive functions can be seen. An arginine-restricted diet, combined with pyridoxine, lysine, proline, or creatine supplementation, can be used in conjunction with treatments for ophthalmological findings.
Methods: Patients followed by the Gazi University Faculty of Medicine, Department of Pediatric Metabolism and Nutrition, and Department of Ophthalmology who were genetically or biochemically diagnosed with GACR were included in the study. The patients' medical records were retrospectively reviewed between 2000 and 2023.
Results: Seven patients with a mean age of 18.08 ± 8.6 years and a mean age at diagnosis of 10.4 ± 5.6 years were included. The earliest diagnosed patient was 15 months old. All patients had high plasma ornithine levels at the time of diagnosis, and they were all started on an arginine-restricted diet. Ophthalmological treatments were decided on a patient-specific basis.
Conclusions: GACR is easily recognizable, but there is still no consensus on treatment modalities. The patients primarily present with progressive ophthalmological findings. An arginine-restricted diet is combined with supplementation with pyridoxine, lysine, proline, or creatine to improve metabolic control. Ophthalmological treatments are mainly applied to reduce cystoid macular edema. Early diagnosis and early initiation of therapy should be aimed at patients, and a multidisciplinary approach should be demonstrated both in diagnosis and follow-up.
{"title":"Gyrate atrophy of the choroid and retina: a tertiary center experience.","authors":"Ekin Özsaydı Aktaşoğlu, Hüseyin Baran Özdemir, Mehmet Cüneyt Özmen, Aslı İnci, İlyas Okur, Fatih Süheyl Ezgü, Leyla Tümer","doi":"10.1186/s13023-026-04265-x","DOIUrl":"https://doi.org/10.1186/s13023-026-04265-x","url":null,"abstract":"<p><strong>Background: </strong>Gyrate atrophy of the choroid and retina (GACR) is a rare amino acid metabolism disorder. Night blindness, cataracts, vision loss, and impaired cognitive functions can be seen. An arginine-restricted diet, combined with pyridoxine, lysine, proline, or creatine supplementation, can be used in conjunction with treatments for ophthalmological findings.</p><p><strong>Methods: </strong>Patients followed by the Gazi University Faculty of Medicine, Department of Pediatric Metabolism and Nutrition, and Department of Ophthalmology who were genetically or biochemically diagnosed with GACR were included in the study. The patients' medical records were retrospectively reviewed between 2000 and 2023.</p><p><strong>Results: </strong>Seven patients with a mean age of 18.08 ± 8.6 years and a mean age at diagnosis of 10.4 ± 5.6 years were included. The earliest diagnosed patient was 15 months old. All patients had high plasma ornithine levels at the time of diagnosis, and they were all started on an arginine-restricted diet. Ophthalmological treatments were decided on a patient-specific basis.</p><p><strong>Conclusions: </strong>GACR is easily recognizable, but there is still no consensus on treatment modalities. The patients primarily present with progressive ophthalmological findings. An arginine-restricted diet is combined with supplementation with pyridoxine, lysine, proline, or creatine to improve metabolic control. Ophthalmological treatments are mainly applied to reduce cystoid macular edema. Early diagnosis and early initiation of therapy should be aimed at patients, and a multidisciplinary approach should be demonstrated both in diagnosis and follow-up.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146207437","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}
Pub Date : 2026-02-14DOI: 10.1186/s13023-026-04230-8
Claire Douillard, Aurélia Poujois, Nadia Belmatoug, Olivier Lidove, Vanessa Leguy-Seguin, Wladimir Mauhin, Magali Gorce, Aline Cano, Philippe Labrune, Karin Mazodier, Camille Wicker, François Maillot, Anaïs Brassier, Anne-Sophie Guemann, Dalila Habes, Marie-Thérèse Abi-Warde, Isabelle Redonnet-Vernhet, Dominique P Germain, Christian Lavigne, Azza Khemiri, Karine Mention, Myriam Dao, Bénédicte Héron, Marc G Berger, Pascale de Lonlay
{"title":"Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.","authors":"Claire Douillard, Aurélia Poujois, Nadia Belmatoug, Olivier Lidove, Vanessa Leguy-Seguin, Wladimir Mauhin, Magali Gorce, Aline Cano, Philippe Labrune, Karin Mazodier, Camille Wicker, François Maillot, Anaïs Brassier, Anne-Sophie Guemann, Dalila Habes, Marie-Thérèse Abi-Warde, Isabelle Redonnet-Vernhet, Dominique P Germain, Christian Lavigne, Azza Khemiri, Karine Mention, Myriam Dao, Bénédicte Héron, Marc G Berger, Pascale de Lonlay","doi":"10.1186/s13023-026-04230-8","DOIUrl":"10.1186/s13023-026-04230-8","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":"71"},"PeriodicalIF":3.5,"publicationDate":"2026-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12922317/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146195283","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}
Pub Date : 2026-02-14DOI: 10.1186/s13023-026-04259-9
Lisheng Liu, Mingjuan Fang, Wenlong Ai, Shan Shu, Wen Zhao, Yan Yan, Nan Cheng, Wenbin Hu, Yin Xu
{"title":"The ATP7B c.3316 G > A variant is associated with mild subphenotype in Wilson disease: a single-center cohort study.","authors":"Lisheng Liu, Mingjuan Fang, Wenlong Ai, Shan Shu, Wen Zhao, Yan Yan, Nan Cheng, Wenbin Hu, Yin Xu","doi":"10.1186/s13023-026-04259-9","DOIUrl":"https://doi.org/10.1186/s13023-026-04259-9","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146197946","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}
Pub Date : 2026-02-13DOI: 10.1186/s13023-026-04249-x
Barbora Chocholova, Ivana Weislova, Hana Poloczkova, Eniko Marczibal, Renata Aiglova, Milos Kubanek, Jan Krejci, Tomas Palecek
{"title":"Wild-type transthyretin cardiac amyloidosis: the journey to diagnosis in the Czech Republic : The research project of the Czech Society of Cardiology.","authors":"Barbora Chocholova, Ivana Weislova, Hana Poloczkova, Eniko Marczibal, Renata Aiglova, Milos Kubanek, Jan Krejci, Tomas Palecek","doi":"10.1186/s13023-026-04249-x","DOIUrl":"10.1186/s13023-026-04249-x","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13005566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146195288","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}
Pub Date : 2026-02-12DOI: 10.1186/s13023-026-04198-5
Christelle Duprez, Véronique Christophe, Isabelle Citerne, Michel Raguet, Louise Richez, Sébastien Sanges, David Launay
{"title":"Is hereditary angioedema associated with deficits in emotion regulation? A quantitative study in adult patients.","authors":"Christelle Duprez, Véronique Christophe, Isabelle Citerne, Michel Raguet, Louise Richez, Sébastien Sanges, David Launay","doi":"10.1186/s13023-026-04198-5","DOIUrl":"10.1186/s13023-026-04198-5","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":"53"},"PeriodicalIF":3.5,"publicationDate":"2026-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12895732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146181662","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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号