Results 141 to 150 of about 4,553,133 (313)

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

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

Genetic dissection of human ABCE1 in yeast reveals separable requirements for ribosome recycling and suppression of aberrant reinitiation

FEBS Open Bio, EarlyView.
Human ABCE1 cannot functionally replace its yeast ortholog. Yeast–human chimera analysis identified NBD1 as a major interspecies barrier. Genetic screening yielded hABCE1 revertants that rescue yeast viability but fail to suppress aberrant translation reinitiation in the 3′ UTR.
Eriko Nakata, Yuxin Li, Kei Endo, Koichi Ito   +3 more
wiley   +1 more source

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
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

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Employment and work ability in individuals living with rare diseases : a systematic literature review

BackgroundThe socioeconomic impact of rare diseases has been mostly studied at the macrolevel, but evidence at the microlevel is lacking, which overshadows health-related social inequalities affecting people with rare diseases, namely, health selection ...
Solves, Jose Joaquín Mira, Vandenheede, Hadewijch, Dumas, Agnes, Brulé, Gaël, Mellerio, Helene, Kangas, Terhi, Vanthomme, KatrienGE390020041587298020037622220000-0001-5861-3852544d26e2-0b70-11ec-b876-8999455a6bf1, Bougas, Nicolas   +7 more
core  

Consideration on " Patient-Centered" Drug Development for Rare Diseases

The unmet clinical needs of patients with rare diseases persist. Many rare diseases lack effective treatments, and drug development for rare diseases faces greater challenges than that for common multiple diseases.
AI Xing, ZHAO Tian, TANG Ling, YANG Zhimin   +3 more
core   +1 more source

New frontiers for rare pulmonary diseases

, 2005
This Issue of Sarcoidosis Vasculitis and Diffuse Lung Diseases is dedicated to a special event which was held in Milan in February 2005. The First International Conference on Rare Pulmonary Diseases and Orphan Drugs in Respiratory Medicine brought ...
Harari S., Agostini C.
core   +2 more sources

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source