Implementing Health‐Related Quality of Life Assessment in Pediatric Oncology: A Feasibility Study
ABSTRACT Background There is growing interest in embedding health‐related quality of life (HRQoL) assessment and patient‐reported outcome measures (PROMs) within clinical cancer care. This study evaluated the feasibility, acceptability, and usability of implementing an electronic PROM (ePROM) platform to measure HRQoL in children with cancer ...
Mikaela Doig +13 more
wiley +1 more source
MBNL1 regulates essential alternative RNA splicing patterns in MLL-rearranged leukemia
The alternative splicing regulator MBNL1 is overexpressed in MLL-rearranged leukaemia. Here, the authors show that MBNL1-mediated alternative splicing leads to a specific splicing profile in MLL-rearranged leukaemia and loss or inhibition of MBNL1 ...
Svetlana S. Itskovich +11 more
doaj +1 more source
Primary Coenzyme Q10 Deficiency [PDF]
open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara +3 more
core
Treatment Decision‐Making Roles and Preferences Among Adolescents and Young Adults With Cancer
ABSTRACT Background Decision‐making (DM) dynamics between adolescents and young adults (AYAs) with cancer, parents, and oncologists remain underexplored in diverse populations. We examined cancer treatment DM preferences among an ethnically and socioeconomically diverse group of AYAs and their parents.
Amanda M. Gutierrez +14 more
wiley +1 more source
Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes
Alpha-1 Antitrypsin Deficiency (AATD) is a co-dominant condition associated with an increased risk of lung and liver disease. Since it is commonly thought that 95% of severe cases of AATD have PI*ZZ genotype, most studies about AATD have been focused on ...
Ilaria Ferrarotti +18 more
doaj +1 more source
Picolinic Acid in Patients with Chronic Hepatitis C Infection: A Preliminary Report
Macrophage activation seems to be a feature of chronic liver diseases. Picolinic acid (PA) as a macrophage secondary signal causes the activation of interferon-gamma- (IFN-γ-) prime macrophage and triggers cytokine-driven inflammatory reactions.
Jolanta Zuwała-Jagiello +3 more
doaj +1 more source
Rapid Response to Trametinib Combined With Chemotherapy for Infant BRAF‐Fused Chiasmatic Glioma
ABSTRACT Infants, less than 1 year, with chiasmatic gliomas (ICG) present a major therapeutic challenge due to large tumor size, decreased vision, rapid progression, and poor response to vincristine/carboplatin chemotherapy. The majority have a BRAF fusion, which may respond to downstream MEK inhibitors but response time is slow. There are no safety or
Helen Toledano +7 more
wiley +1 more source
Background Immunoglobulin replacement therapy (IgRT) is the current standard of care for primary antibody deficiency patients (majority of all primary immunodeficiency (PID) diseases), with growing real-world evidence supporting use for secondary ...
Rajiv Mallick +2 more
doaj +1 more source
Effect of Sb deficiency on the thermoelectric properties of Zn4Sb3
We have investigated the effect of Sb-deficiency on the thermoelectric figure of merit (zT) of Zn4Sb3 prepared by solid state reaction route. At high temperatures, the Seebeck coefficient (S) and electrical conductivity ({\sigma}) increase with increase ...
Sanchela, Anup V. +2 more
core +2 more sources
T-cadherin deficiency increases vascular vulnerability in T2DM through impaired NO bioactivity. [PDF]
BACKGROUND: Endothelial dysfunction plays a critical role in the development of type 2 diabetes (T2DM). T-cadherin (T-cad) has gained recognition as a regulator of endothelial cell (EC) function.
Ambrosio, Anastasia +7 more
core +2 more sources

