Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies
Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported in dystrophinopathies. Most DMD missense variants are of uncertain significance and their pathogenicity interpretation remains complic... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 14, 2024 Category: Internal Medicine Authors: Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng & hellip; Tags: Research Source Type: research

Lymphatic drainage of sinonasal malignancies and the role of sentinel node biopsies
Locoregional recurrence is a critical factor in the prognosis of sinonasal malignancies. Due to the rarity of these tumours, as well as the heterogeneity of histologies and anatomical subsites, there is little... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 13, 2024 Category: Internal Medicine Authors: Fatemeh Kashani, BG Weiss, P Bartenstein, M Canis and F Haubner Tags: Research Source Type: research

De novo variants of IRF2BPL result in developmental epileptic disorder
Pathogenic variants of the IRF2BPL gene have been reported to cause neurodevelopmental disorders; however, studies focused on IRF2BPL in zebrafish are limited. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 13, 2024 Category: Internal Medicine Authors: Yong Wang, Zhongling Ke, Yufen Li, Mingqi Qiu, Jing Liu, Zuozhen Yang, Shu Wen, Mengmeng Liang and Shan Chen Tags: Research Source Type: research

Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa
Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complicatio... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 13, 2024 Category: Internal Medicine Authors: Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir, Imad Brema, Hussain Alsaffar, Mohammed Al Dubayee, Awad Alshahrani, Yasmine Abdelmeguid, Omneya M. Omar, Najya Attia, Elham Al Amiri, Jamal Al Jubeh, Albandari Algethami, Tags: Research Source Type: research

The impact of amplification on quality of life in women with Turner syndrome
Individuals with Turner syndrome (TS, ORPHA 881) experience barriers in communication throughout life as they navigate both early conductive, and progressive sensorineural hearing loss amid other healthcare ne... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 13, 2024 Category: Internal Medicine Authors: Lauren Mann and Lindsey VanLooy Tags: Research Source Type: research

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholineste... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 12, 2024 Category: Internal Medicine Authors: Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad and Shahriar Nafissi Tags: Research Source Type: research

Pilot study of the effectiveness of a telehealth group for improving peer relationships for adolescents with neurofibromatosis type 1
Interventions for social difficulties have not been investigated in the neurofibromatosis type 1 (NF1) population despite observations of elevated rates of social difficulties. In this pilot study, the effecti... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 12, 2024 Category: Internal Medicine Authors: Danielle M. Glad, Sara K. Pardej, Ellen Olszewski and Bonita P. Klein-Tasman Tags: Research Source Type: research

A systematic review of real-world evidence (RWE) supportive of new drug and biologic license application approvals in rare diseases
Real-world evidence (RWE) generated using real-world data (RWD) presents the potential to contextualize and/or supplement traditional clinical trials for regulatory approval of rare diseases (RDs). This system... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 12, 2024 Category: Internal Medicine Authors: Shailja Vaghela, Kaniz Afroz Tanni, Geetanjoli Banerjee and Vanja Sikirica Tags: Review Source Type: research

Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry
Many different clinical specialists provide care to patients with Turner syndrome (TS), who have highly variable clinical manifestations. Therefore, a national TS registry is essential to inform a cohesive app... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 11, 2024 Category: Internal Medicine Authors: Sara Mansoorshahi, Cindy Scurlock, Scientific Advisory Board of the Turner Syndrome Society of the United States Research Registry and Siddharth K Prakash Tags: Research Source Type: research

Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II
Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II) have a severe, neuronopathic phenotype, characterized by somatic, cognitive, and behavioral issues. Current standard of care for the ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 10, 2024 Category: Internal Medicine Authors: Karen S. Yee, Sandy Lewis, Emily Evans, Carla Romano and David Alexanderian Tags: Research Source Type: research

Neurobehavioral and developmental profiles: genotype –phenotype correlations in individuals with Cornelia de Lange syndrome
Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the syndrome. To date, literature on genotype –phenotype associat... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 10, 2024 Category: Internal Medicine Authors: Rowena Ng, Julia O ’Connor, Deirdre Summa and Antonie D. Kline Tags: Research Source Type: research

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 8, 2024 Category: Internal Medicine Authors: Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Tags: Research Source Type: research

The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study
The objective of this study was to explore the influence of t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 8, 2024 Category: Internal Medicine Authors: Amira Ahmed Elfituri, Manuel Joaqu ín De Nova and Mohammadamin Najirad Tags: Research Source Type: research

Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry
Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigu... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 8, 2024 Category: Internal Medicine Authors: Priya S. Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried and Kathryn M. Dahir Tags: Research Source Type: research

Patients ’ and physicians’ awareness of clinical symptoms and disease severity in tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 8, 2024 Category: Internal Medicine Authors: Matthias Sauter, Lea Weber, Dominik Jung, Michael Weremko, Dorothea Bachmann, Michael Fischereder and Hagen Sjard Bachmann Tags: Research Source Type: research