Results 61 to 70 of about 157,606 (247)

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]

open access: yes, 2010
Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing
Chassaing, N   +9 more
core   +2 more sources

Building a Robust Investigator‐Initiated Platform: The I‐CARE Experience

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Investigator‐initiated studies that include information collected by patients are rising, but limited data is available on patient and investigator experience in this setting. The I‐CARE cohort included patients with inflammatory bowel disease (IBD) monthly collecting clinical information in 15 countries for up to 6 years.
Julien Kirchgesner   +906 more
wiley   +1 more source

Adverse Events Induced by PD-1/PD-L1 Inhibitors: A Real-World Single-Centre Experience with a Management-Based Approach

open access: yesTherapeutics and Clinical Risk Management, 2021
Fabien Grimaud,1 Guillaume Penaranda,2 Chloé Stavris,3 Frédérique Retornaz,3 Véronique Brunel,4 Sylvie Cailleres,4 Hervé Pegliasco,5 Jacques Le Treut,5 Vincent Grisoni,6 Emilie Coquet,1 Laurent Chiche,3 Amélie Rognon1 1Department of Pharmacy, Hôpital ...
Grimaud F   +11 more
doaj  

In vivo assessment of the mechanical properties of the child cortical bone using quantitative computed tomography [PDF]

open access: yes, 2014
The mechanical properties of the rib cortical bone are extremely rare on children due to difficulties to obtain specimens to perform conventional tests. Some recent studies used cadaveric bones or bone tissues collected during surgery but are limited by ...
BERMOND, François   +7 more
core   +3 more sources

Comprehensive exploration of unexplained dyspnoea in subjects with normal ejection fraction and low natriuretic peptides

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 879-887, April 2025.
Abstract Background Unexplained exertional dyspnoea without significant elevation of natriuretic peptides is common. One of the causes might be early heart failure with preserved ejection fraction (HFpEF). Aims This study aimed to characterize patients with exertional dyspnoea and normal/near‐to‐normal N‐terminal pro‐brain natriuretic peptide (NT ...
Emmanuelle Berthelot   +8 more
wiley   +1 more source

Mortality risk stratification for Takotsubo syndrome: Evaluating CRP measurement alongside the InterTAK prognostic score

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1427-1436, April 2025.
Abstract Background and objectives Initially described as a benign acute cardiomyopathy, Takotsubo syndrome has been linked to elevated mortality rates. Emerging evidence suggests that unresolved myocardial inflammation may contribute to this adverse prognosis.
Loïc Faucher   +12 more
wiley   +1 more source

Quality of life with ivabradine in patients with angina pectoris [PDF]

open access: yes, 2016
Background—To explore the effect of ivabradine on angina-related quality of life (QoL) in patients participating in the Study Assessing the Morbidity–Mortality Benefits of the If Inhibitor Ivabradine in Patients with Coronary Artery Disease (SIGNIFY) QoL
Chassany, Olivier   +6 more
core   +1 more source

Determining optimal outcome measures in a trial investigating no routine gastric residual volume measurement in critically ill children [PDF]

open access: yes, 2020
Background Choosing trial outcome measures is important. When outcomes are not clinically relevant or important to parents/patients, trial evidence is less likely to be implemented into practice.
Andrzejewska, Izabela   +16 more
core   +2 more sources

Weaning from ketogenic diet therapy in children with epilepsy: Insights from a retrospective study

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to describe weaning practices following ketogenic diet therapy (KDT) in children with epilepsy and to identify clinical factors associated with seizure exacerbation or antiseizure medication adjustments during or after weaning from KDT.
Noémie Donnard   +10 more
wiley   +1 more source

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

open access: yesEpilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz   +73 more
wiley   +1 more source

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