Results 51 to 60 of about 1,622,414 (348)

Consensus of Chinese Experts on the Diagnosis and Treatment of Type Ⅰ Interferonopathy

罕见病研究
Type Ⅰ interferonopathy is an autoinflammatory disease that affects multiple systems, with a high disability and mortality rate. It profoundly impacts the quality of life of patients and poses a considerable burden on their families and society.
Chinese Alliance of Pediatric Rheumatic & Immunologic Diseases, Chinese Pharmacists Association Rare Diseases Medication Working Committee   +1 more
doaj   +1 more source

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Scientific Reports, 2018
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean new insights ...
James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases, Andy G. Lynch   +3 more
doaj   +1 more source

Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs) [PDF]

, 2015
Purpose: To describe the clinical features of electric powered indoor/outdoor wheelchair (EPIOC) users with rare diseases (RD) impacting on EPIOC provision and seating. Method: Retrospective review by a consultant in rehabilitation medicine of electronic
Andrew O. Frank, Beauchamp M, British Society of Rehabilitation Medicine, Department of Health, Fortini D, Frank AO, Frank AO, Gibilisco P, Kodama TK., Leigh PN, Lorraine H. De Souza, Mangin D, Matallana AM, Rare Disease UK, Rare Disease UK, Rare Disease UK., Rare Disease UK., Rare Diseases UK., Schoser B   +18 more
core   +3 more sources

Lifestyle Behaviors and Cardiotoxic Treatment Risks in Adult Childhood Cancer Survivors

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Higher doses of anthracyclines and heart‐relevant radiotherapy increase cardiovascular disease (CVD) risk. This study assessed CVD and CVD risk factors among adult childhood cancer survivors (CCSs) across cardiotoxic treatment risk groups and examined associations between lifestyle behaviors and treatment risks.
Ruijie Li, Raquel Revuelta Iniesta, Alan R. Barker, Dimitris Vlachopoulos, Tomáš Sláma, Christina Schindera, Fabiën N. Belle   +6 more
wiley   +1 more source

To Promote the Application of Genetic Testing Technology in the Diagnosis and Treatment of Rare Diseases in China-Establishment and Work Prospect of Medical Genome Committee

罕见病研究
With the development of medical genomics, whole genome sequencing (WGS) has been playing an increasingly important role in the diagnosis and treatment of rare diseases.
China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Medical Genome Committee   +2 more
doaj   +1 more source

Exploring ITM2A as a new potential target for brain delivery

Fluids and Barriers of the CNS, 2022
Background Integral membrane protein 2A (ITM2A) is a transmembrane protein expressed in a variety of tissues; little is known about its function, particularly in the brain.
Céline Cegarra, C. Chaves, C. Déon, T. M. Do, B. Dumas, A. Frenzel, P. Kuhn, V. Roudieres, J. C. Guillemot, D. Lesuisse   +9 more
doaj   +1 more source

Prolonged Corrected QT Interval as an Early Electrocardiographic Marker of Cyclophosphamide‐Induced Cardiotoxicity in Pediatric Hematology and Oncology Patients

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Cyclophosphamide (CY) is associated with potentially fatal cardiotoxicity, yet no electrocardiographic indices have been established for early detection of CY‐induced cardiomyopathy. This study aimed to determine whether corrected QT interval (QTc) prolongation can predict early onset of CY‐related cardiac dysfunction in pediatric ...
Junpei Kawamura, Kentaro Ueno, Takuro Nishikawa, Yoshihiro Takahashi, Koji Nakae, Yasuhiro Okamoto   +5 more
wiley   +1 more source

Thioredoxin and Glutaredoxin Systems as Potential Targets for the Development of New Treatments in Friedreich’s Ataxia

Antioxidants, 2020
The thioredoxin family consists of a small group of redox proteins present in all organisms and composed of thioredoxins (TRXs), glutaredoxins (GLRXs) and peroxiredoxins (PRDXs) which are found in the extracellular fluid, the cytoplasm, the mitochondria ...
Marta Seco-Cervera, Pilar González-Cabo, Federico V. Pallardó, Carlos Romá-Mateo, José Luis García-Giménez   +4 more
doaj   +1 more source

Appendicular mass – a rare form of tuberculosis [PDF]

, 2017
Tuberculosis is in the top 10 causes of death worldwide, being one of the most deadly infectious diseases. It is estimated that one of three people from the entire earth population has a latent infection with M tuberculosis.
Balalau, Cristian, Banu, Petrisor, Bratucu, Mircea, Constantin, Vlad D., Popa, Florian, Vladescu, Teodora   +5 more
core   +4 more sources

Predicting Chronicity in Children and Adolescents With Newly Diagnosed Immune Thrombocytopenia at the Timepoint of Diagnosis Using Machine Learning‐Based Approaches

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objectives To identify predictors of chronic ITP (cITP) and to develop a model based on several machine learning (ML) methods to estimate the individual risk of chronicity at the timepoint of diagnosis. Methods We analyzed a longitudinal cohort of 944 children enrolled in the Intercontinental Cooperative immune thrombocytopenia (ITP) Study ...
Severin Kasser, Alice Bizeul, Meera Chitlur, Hugo Donato, Jelena Roganovic, Julia E. Vogt, Thomas Kühne   +6 more
wiley   +1 more source