Results 141 to 150 of about 4,732,768 (313)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Preliminary Exploration on the Establishment of the Department of Rare Diseases at Peking Union Medical College Hospital

The establishment of the Department of Rare Diseases at Peking Union Medical College Hospital (PUMCH) is a landmark in the disciplinary development of the rare diseases. The establishment of the department will booster the prominence of the influence and
ZHANG Shuyang, SHEN Min
core   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Next-generation sequencing-based characterization of BRCA1/2 variants across multiple tumor types in Vietnamese patients

BMC Cancer
Background Mutations in the BRCA1 and BRCA2 genes play a pivotal role in the pathogenesis of breast, ovarian, prostate, pancreatic, and several other cancers.
Hong-Thanh Nguyen, Minh-Duc Vu, Dinh-Dung Nguyen, Phuong-Nhung Dinh, Van-Quy Hoang, Linh-Trang Ngoc Bui, Dinh-Tuan Nguyen, Phuoc-Huy Do, Thi-Oanh Tong, Van-Hung Nguyen, Thu-Huong Thi Han, Sy-Tung Ha, Huy-Duong Do, Thanh-Ha Thi Ly, Viet-Nhan Nguyen   +14 more
doaj   +1 more source

Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin, Binbin Xue, Dewei Xie, Jia Li, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Ruofan Zhu, Xu Zhang, Junhui Xia, Xiang Li   +11 more
wiley   +1 more source

Medical education gaps in the diagnosis of Fabry disease in the UK: Descriptive findings from a patient survey and specialists’ interviews

Rare
Background: Early diagnosis of Fabry disease (FD) is crucial to initiate treatment and mitigate disease progression but is hindered by the rarity and non-specific symptoms of disease.
Stuart Gaffney, Kamran Iqbal, Phil Dawson, Thomas Kenny   +3 more
doaj   +1 more source

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source

Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro, Shiwen Koay, Gordon T. Ingle, Patricia McNamara, Laura Watson, Fion Bremner, Valeria Iodice   +6 more
wiley   +1 more source

A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years

Background: Initiatives aiming to assess the impact of rare diseases on population health might be hampered due to the complexity of disability-adjusted life years (DALYs) estimation. This study aimed to give insight into the epidemiological data sources
Kolkhir, P. V., Devleesschauwer, Brecht, Mechili, Enkeleint A., Delaye, Julien, Grad, Diana Alecsandra, Charalampous, Periklis, Haagsma, Juanita A., Unim, Brigid, Oliveira, Claudia Cruz   +8 more
core   +1 more source

Diagnostic pathways and unmet healthcare needs in rare diseases: a Romanian survey

Frontiers in Public Health
Rare disease policy in Europe increasingly emphasises not only timely diagnosis but also the integration of specialist expertise into sustainable national care pathways.
Alexandra Dan, Ramona Mocuțiu, Cristina Criste, Zelike Demjen, Larisa Damsa, Emilia Severin, Dorica Dan   +6 more
doaj   +1 more source