journal
https://read.qxmd.com/read/38741122/ethanol-embolization-of-arteriovenous-malformations-in-the-buttock-ten-year-experiences-in-diagnoses-and-treatment-options
#21
JOURNAL ARTICLE
Yuchen Shen, Deming Wang, Xindong Fan, Lianzhou Zheng, Lixin Su, Xitao Yang
BACKGROUND: Clinically, arteriovenous malformations in the buttocks (bAVMs) are extremely rare. Our study aimed to evaluate the efficacy and safety of ethanol embolotherapy in managing bAVMs. RESULTS: A total of 32 patients with bAVMs (14 females and 18 males) from 2012 to 2021 were included in this study. All patients underwent complete clinical and imaging examinations. Further, the AVMs lesions were analyzed according to Schöbinger staging and Yakes classification...
May 13, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38741100/patient-experiences-of-interprofessional-collaboration-and-intersectoral-communication-in-rare-disease-healthcare-in-germany-a-mixed-methods-study
#22
JOURNAL ARTICLE
Laura Inhestern, Ramona Otto, Maja Brandt, David Zybarth, Ralf Oheim, Helke Schüler, Thomas S Mir, Konstantinos Tsiakas, Payam Dibaj, Jana Zschüntzsch, Pamela M Okun, Ute Hegenbart, Olaf Sommerburg, Christoph Schramm, Christina Weiler-Normann, Martin Härter, Corinna Bergelt
BACKGROUND: Rare diseases are often complex, chronic and many of them life-shortening. In Germany, healthcare for rare diseases is organized in expert centers for rare diseases. Most patients additionally have regional general practicioners and specialists for basic medical care. Thus, collaboration and information exchange between sectors is highly relevant. Our study focuses on the patient and caregiver perspective on intersectoral and interdisciplinary care between local healthcare professionals (HCPs) and centers for rare diseases in Germany...
May 13, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38741077/neuropsychological-profile-associated-with-kat6a-syndrome-emergent-genotype-phenotype-trends
#23
JOURNAL ARTICLE
Rowena Ng, Allison J Kalinousky, Jacqueline Harris
BACKGROUND: KAT6A (Arboleda-Tham) syndrome is a Mendelian disorder of the epigenetic machinery caused by pathogenic variants in the lysine acetyltransferase 6 A (KAT6A) gene. Intellectual disability and speech/language impairment (e.g., minimally verbal) are common features of the disorder, with late-truncating variants associated with a more severe form of intellectual disability. However, much of the cognitive phenotype remains elusive given the dearth of research. PARTICIPANTS AND METHODS: This study examined non-verbal and social skills of 15 individuals with molecularly-confirmed diagnoses of KAT6A syndrome (Mean age = 10...
May 13, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38730494/short-developmental-milestone-risk-assessment-tool-to-identify-duchenne-muscular-dystrophy-in-primary-care
#24
JOURNAL ARTICLE
Paula van Dommelen, Oisín van Dijk, Jeroen A de Wilde, Paul H Verkerk
BACKGROUND: In patients without a family history, Duchenne muscular dystrophy (DMD) is typically diagnosed at around 4-5 years of age. It is important to diagnose DMD during infancy or toddler stage in order to have timely access to treatment, opportunities for reproductive options, prevention of potential fatal reactions to inhaled anesthetics, awareness of a child's abilities needed for good parenting, and opportunities for enrolment in clinical trials. METHOD: We aimed to develop a short risk assessment tool based on developmental milestones that may contribute to the early detection of boys with DMD in primary care...
May 10, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38720335/treatment-characteristics-of-patients-with-hereditary-transthyretin-amyloidosis-a-cohort-study
#25
JOURNAL ARTICLE
Taha N Qarni, Felipe J S Jones, Brian Drachman, Sami Khella, Janice Pieretti, Nicolas Sarmiento Bustamante, Chafic Karam
BACKGROUND: There are novel medications approved for the treatment of hereditary transthyretin amyloidosis (ATTRv), classified as transthyretin (TTR) stabilizers or gene silencers. While many patients may be on both classes of medications, there is no data available on the safety and efficacy of combination therapy. OBJECTIVES: To describe ATTRv patient and TTR-targeted therapy characteristics in a US cohort, and compare outcomes with combination therapy versus monotherapy...
May 8, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38715109/a-healthcare-claims-analysis-to-identify-and-characterize-patients-with-suspected-x-linked-myotubular-myopathy-xlmtm-in-the-brazilian-healthcare-system
#26
JOURNAL ARTICLE
Paulo Victor Sgobbi Souza, Tmirah Haselkorn, Jader Baima, Renato Watanabe Oliveira, Fabián Hernández, Marina G Birck, Marcondes C França
BACKGROUND: X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital disease, which is not well-defined. To our knowledge, no studies characterizing the XLMTM disease burden have been conducted in Brazil. We identified and described patients with suspected XLMTM using administrative claims data from the Brazilian public healthcare system. METHODS: Data from 2015 to 2019 were extracted from the DATASUS database. As no XLMTM-specific ICD-10 code was available, a stepwise algorithm was applied to identify patients with suspected XLMTM by selecting male patients with a congenital myopathies code (G71...
May 7, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38715067/innovative-methodologies-for-rare-diseases-clinical-trials
#27
EDITORIAL
Rima Nabbout, Ralf-Dieter Hilgers
No abstract text is available yet for this article.
May 7, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38715031/disease-characteristics-effectiveness-and-safety-of-vestronidase-alfa-for-the-treatment-of-patients-with-mucopolysaccharidosis-vii-in-a-novel-longitudinal-multicenter-disease-monitoring-program
#28
MULTICENTER STUDY
Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B Hennermann, Brigitte Chabrol, Christina L Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J Lawrence Merritt Ii
BACKGROUND: Mucopolysaccharidosis VII (MPS VII) is an ultra-rare, autosomal recessive, debilitating, progressive lysosomal storage disease caused by reduced activity of β-glucuronidase (GUS) enzyme. Vestronidase alfa (recombinant human GUS) intravenous enzyme replacement therapy is an approved treatment for patients with MPS VII. METHODS: This disease monitoring program (DMP) is an ongoing, multicenter observational study collecting standardized real-world data from patients with MPS VII (N ≈ 50 planned) treated with vestronidase alfa or any other management approach...
May 7, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38711103/scoping-review-of-the-recommendations-and-guidance-for-improving-the-quality-of-rare-disease-registries
#29
REVIEW
J E Tarride, A Okoh, K Aryal, C Prada, Deborah Milinkovic, A Keepanasseril, A Iorio
BACKGROUND: Rare disease registries (RDRs) are valuable tools for improving clinical care and advancing research. However, they often vary qualitatively, structurally, and operationally in ways that can determine their potential utility as a source of evidence to support decision-making regarding the approval and funding of new treatments for rare diseases. OBJECTIVES: The goal of this research project was to review the literature on rare disease registries and identify best practices to improve the quality of RDRs...
May 6, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38702811/health-related-quality-of-life-and-influencing-factors-of-patients-with-paroxysmal-nocturnal-hemoglobinuria-in-china
#30
JOURNAL ARTICLE
Huaxin Yu, Shengnan Duan, Pei Wang, Rong Fu, Zixuan Lv, Yuchi Yu, Pu Miao, Junwei Shi, Niekun Zhuang, Huiying Hu, Ni Yuan, Sijia Che
BACKGROUND: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder, leading to various complications and impairments in patients' health-related quality of life (HRQOL). Limited research has been conducted to evaluate the HRQOL of Chinese patients with PNH. Understanding the HRQOL in this specific population is crucial for providing effective healthcare interventions and improving patient' health outcomes. This study aimed to assess HRQOL of Chinese patients with PNH, and identify key determinants...
May 3, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38698482/an-algorithm-to-identify-patients-aged-0-3-with-rare-genetic-disorders
#31
JOURNAL ARTICLE
Bryn D Webb, Lisa Y Lau, Despina Tsevdos, Ryan A Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E Schadt, Li Li
BACKGROUND: With over 7000 Mendelian disorders, identifying children with a specific rare genetic disorder diagnosis through structured electronic medical record data is challenging given incompleteness of records, inaccurate medical diagnosis coding, as well as heterogeneity in clinical symptoms and procedures for specific disorders. We sought to develop a digital phenotyping algorithm (PheIndex) using electronic medical records to identify children aged 0-3 diagnosed with genetic disorders or who present with illness with an increased risk for genetic disorders...
May 2, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38698461/clinical-characteristics-radiological-features-and-outcomes-in-pulmonary-involvement-of-cryoglobulinemia
#32
JOURNAL ARTICLE
Hong-Xiao Han, Wei Su, Xinlun Tian, Dao-Bin Zhou, Jian Li, Xin-Xin Cao
BACKGROUND: Cryoglobulinemia with pulmonary involvement is rare, and its characteristics, radiological findings, and outcomes are still poorly understood. METHODS: Ten patients with pulmonary involvement of 491 cryoglobulinemia patients at Peking Union Medical College Hospital were enrolled in this retrospective study. We analyzed the characteristics, radiological features and management of pulmonary involvement patients, and compared with those of non-pulmonary involvement with cryoglobulinemia...
May 2, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38698457/project-saturn-a-real-world-evidence-data-collaboration-with-existing-european-datasets-in-osteogenesis-imperfecta-to-support-future-therapies
#33
JOURNAL ARTICLE
L Sangiorgi, M Boarini, I Westerheim, R T Skarberg, J Clancy, V Wang, M Mordenti
Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness, and cost-effectiveness. Healthcare systems may require data on clinical utility, savings, and budget impact. Furthermore, the exact requirements of these bodies vary country by country and sometimes even region to region, resulting in a patchwork of different data requirements to achieve effective, reimbursed patient access to new therapies...
May 2, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38689355/social-difficulties-and-care-burden-of-adult-duchenne-muscular-dystrophy-in-japan-a-questionnaire-survey-based-on-the-japanese-registry-of-muscular-dystrophy-remudy
#34
JOURNAL ARTICLE
Madoka Mori-Yoshimura, Keiko Ishigaki, Yuko Shimizu-Motohashi, Naoko Ishihara, Atushi Unuma, Sumiko Yoshida, Harumasa Nakamura
BACKGROUND: Little is known about the social difficulties and health care needs of adult Duchenne muscular dystrophy (DMD) patients in Japan, as well as the financial and physical stress experienced by their caregivers. This study aimed to clarify the social circumstances surrounding adult DMD patients and assess the degree of involvement of family members in their care and the associated economic burden of the disorder in Japan. METHODS: Adult DMD patients were identified through the Registry of Muscular Dystrophy (Remudy) in Japan and invited to complete a questionnaire together with a caregiver...
April 30, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38689282/a-systematic-literature-review-on-the-health-related-quality-of-life-and-economic-burden-of-fabry-disease
#35
REVIEW
Ana Jovanovic, Eve Miller-Hodges, Felicia Castriota, Shweta Takyar, Heena Howitt, Olulade Ayodele
BACKGROUND: Fabry disease (FD) is a rare lysosomal storage disease associated with glycolipid accumulation that impacts multiple physiological systems. We conducted a systematic literature review (SLR) to characterize the humanistic (quality of life [QoL]) and economic burden of FD. METHODS: Searches were conducted in the Embase, MEDLINE® , and MEDLINE® In-Process databases from inception to January 19, 2022. Conference abstracts of specified congresses were manually searched...
April 30, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38685042/health-related-quality-of-life-in-children-and-adolescents-with-marfan-syndrome-or-related-disorders-a-controlled-cross-sectional-study
#36
JOURNAL ARTICLE
Thomas Edouard, Marie-Christine Picot, Fernanda Bajanca, Helena Huguet, Aitor Guitarte, Maud Langeois, Bertrand Chesneau, Philippe Khau Van Kien, Eric Garrigue, Yves Dulac, Pascal Amedro
BACKGROUND: This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate the factors associated with HRQoL in this population. Sixty-three children with MFS and 124 age- and sex-matched healthy children were recruited. HRQoL was assessed using the Pediatric Quality of Life Inventory (PedsQL™) generic questionnaire. The correlation between HRQoL scores and the different continuous parameters (age, body mass index, disease severity, systemic score, aortic sinus diameter, and aerobic physical capacity) was evaluated using Pearson's or Spearman's coefficient...
April 30, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38685110/application-of-tandem-mass-spectrometry-in-the-screening-and-diagnosis-of-mucopolysaccharidoses
#37
REVIEW
Jing-Wen Li, Shao-Jia Mao, Yun-Qi Chao, Chen-Xi Hu, Yan-Jie Qian, Yang-Li Dai, Ke Huang, Zheng Shen, Chao-Chun Zou
Mucopolysaccharidoses (MPSs) are caused by a deficiency in the enzymes needed to degrade glycosaminoglycans (GAGs) in the lysosome. The storage of GAGs leads to the involvement of several systems and even to the death of the patient. In recent years, an increasing number of therapies have increased the treatment options available to patients. Early treatment is beneficial in improving the prognosis, but children with MPSs are often delayed in their diagnosis. Therefore, there is an urgent need to develop a method for early screening and diagnosis of the disease...
April 29, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38685058/epidemiology-of-autoimmune-liver-disease-in-korea-evidence-from-a-nationwide-real-world-database
#38
JOURNAL ARTICLE
Jihye Lim, Hwa Jung Kim
BACKGROUND: Autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC) are all immune-mediated chronic inflammatory liver diseases. Autoimmune liver diseases are rare, making identification and treatment difficult. To improve clinical outcomes and enhance patient quality of life, we performed an epidemiological study of autoimmune liver diseases based on real-world comprehensive data. RESULTS: We used National Health Insurance Service claims data in Korea from 2005 to 2019...
April 29, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38678283/-blues-procedure-for-assessing-the-blue-level-of-the-sclera-in-osteogenesis-imperfecta
#39
JOURNAL ARTICLE
Valerio Di Martino, Fabiana Mallone, Alessandro Lambiase, Mauro Celli, Alice Mannocci, Luca Celli, Pietro Mangiantini, Pasquale Fino, Antonietta Moramarco
PURPOSE: Blue sclera is a characteristic and common clinical sign of Osteogenesis Imperfecta (OI). However, there is currently no widely accepted, objective method for assessing and grading blue sclera in individuals with OI. To address this medical need, this study is aimed to design and validate a new method called 'BLUES' (BLUe Eye Sclera) to objectively identify and quantify the blue color in the sclera of patients affected by OI. METHODS: Sixty-two patients affected by OI and 35 healthy controls were enrolled in the present prospective study, for a total of 194 eyes analyzed...
April 27, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38678257/diagnostic-and-referral-pathways-in-patients-with-rare-lipodystrophy-and-insulin-resistance-syndromes-key-milestones-assessed-from-a-national-reference-center
#40
JOURNAL ARTICLE
Bruno Donadille, Sonja Janmaat, Héléna Mosbah, Inès Belalem, Sophie Lamothe, Mariana Nedelcu, Anne-Sophie Jannot, Sophie Christin-Maitre, Bruno Fève, Camille Vatier, Corinne Vigouroux
BACKGROUND: Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications. OBJECTIVE: We aimed to evaluate the patients' age at referral to our dedicated national reference center in France and their elapsed time from first symptoms to diagnosis and access to specialized care. PATIENTS AND METHODS: We analyzed data from patients with rare lipodystrophy and insulin-resistance syndromes referred to the coordinating PRISIS reference center (Adult Endocrine Department, Saint-Antoine Hospital, AP-HP, Paris), prospectively recorded between 2018 and 2023 in the French National Rare Disease Database (BNDMR, Banque Nationale de Données Maladies Rares)...
April 27, 2024: Orphanet Journal of Rare Diseases
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