Results 21 to 30 of about 2,414,789 (346)

Overview of patients’ cohorts in the French National rare disease registry

Orphanet Journal of Rare Diseases, 2023
In France, all patients followed by Rare Disease (RD) expert centers have to be registered in the National Rare Disease Registry (BNDMR). This database collects a minimum data set including diagnosis coded using the Orphanet nomenclature.
Thibaut Pichon, Claude Messiaen, Louis Soussand, Céline Angin, Arnaud Sandrin, Nabila Elarouci, Anne-Sophie Jannot, on behalf of the BNDMR infrastructure team   +7 more
doaj   +1 more source

Rare Diseases

Journal of Prescribing Practice
Abstract The definition of rare disease is covered. The challenges in the clinical development programme are highlighted, including in the design, conduct, analysis, and interpretation of clinical studies. Regulatory flexibilities and support are highlighted.
Phil Ambery, Adrian Kilcoyne, Daniel O’Connor   +2 more
  +7 more sources

Comprehensive Analysis of METTLs (METTL1/13/18/21A/23/25/2A/2B/5/6/9) and Associated mRNA Risk Signature in Hepatocellular Carcinoma

Analytical Cellular Pathology, 2023
Currently, 80%–90% of liver cancers are hepatocellular carcinomas (HCC). HCC patients develop insidiously and have an inferior prognosis. The methyltransferase-like (METTL) family principal members are strongly associated with epigenetic and tumor ...
Haoyu Wang, Shangshang Hu, Junjie Nie, Xiaodan Qin, Xu Zhang, Qian Wang, John Zhong Li   +6 more
doaj   +1 more source

Nodular Sarcoidosis Masquerading as Cancer. [PDF]

, 2017
Nodular lung disease is a rare pulmonary manifestation of sarcoidosis and resembles metastatic neoplasm disease. Nodular sarcoidosis is rare, varying from 1.6% to 4% of patients with sarcoidosis.
Singh, Navneet K, Stein, Alexander, Sweidan, Alexander J, Tanios, Maged   +3 more
core   +2 more sources

Drug target gene-based analyses of drug repositionability in rare and intractable diseases

Scientific Reports, 2021
Drug development for rare and intractable diseases has been challenging for decades due to the low prevalence and insufficient information on these diseases. Drug repositioning is increasingly being used as a promising option in drug development.
Ryuichi Sakate, Tomonori Kimura
doaj   +1 more source

Orphan drugs and the NHS: Should we value rarity [PDF]

, 2005
Cost effectiveness plays an important part in current decisions about the funding of health technologies. Drugs for rare disease (orphan drugs) are often expensive to produce and, by definition, will benefit only small numbers of patients.
Claxton, K., McCabe, C., Tsuchiya, A.
core   +2 more sources

Biomarkers in Rare Diseases

Public Health Genomics, 2013
<b><i>Background:</i></b> Nowadays 7,000 rare diseases (RDs) have been identified with a prevalence less than 5/10,000. Despite of the enormous effort the European Union (EU) has already invested in this field, still 4,000 RDs remain orphan of genetic diagnosis and causative gene identification.
FERLINI, Alessandra, SCOTTON, Chiara, G. Novelli   +2 more
openaire   +3 more sources

Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment

Orphanet Journal of Rare Diseases, 2022
Background Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA).
Amanda Mortensen, Eva M. Raebel, Samantha Wiseman   +2 more
doaj   +1 more source

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. [PDF]

, 2016
Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association.
Dumas, Kevin, Ge, Xiaoyan, Gong, Henry, Grody, Wayne W, Hendriks, Yvonne, Kwok, Pui-Yan, Lee, Hane, Litwin, Jessica, Nelson, Stanley F, Phillips, Joanna J, Shieh, Joseph Tc, Stuurman, Kyra E, Waisfisz, Quinten, Weiss, Marjan M   +13 more
core   +2 more sources

Increased serum IL-2, IL-4, IL-5 and IL-12p70 levels in AChR subtype generalized myasthenia gravis

BMC Immunology, 2022
Background Myasthenia gravis (MG) is an autoimmune disorder affecting neuromuscular junctions. Cytokines play important roles in facilitating the immune response and augmenting the pathogenic antibody production.
Xiao Huan, Rui Zhao, Jie Song, Huahua Zhong, Manqiqige Su, Chong Yan, Ying Wang, Sheng Chen, Zhirui Zhou, Jiahong Lu, Jianying Xi, Sushan Luo, Chongbo Zhao   +12 more
doaj   +1 more source