Results 51 to 60 of about 5,766,482 (313)

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair [PDF]

, 2012
Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide kinase/phosphatase (PNKP), a DNA strand break repair protein with DNA 5'-kinase and DNA 3'-phosphatase ...
Alexandra K. Walker, Beckman, Bernstein, Breslin, Breslin, Brodsky, Buck, Buck, Caldecott, Caldecott, Chappell, Christopher A. Walsh, Date, Dingwall, Dobson, Edward C. Gilmore, El-Khamisy, Evans, Garces, Hsiang, Interthal, John J. Reynolds, Karimi-Busheri, Keith W. Caldecott, Koch, Kouzminova, Kuzminov, Lee, Lindahl, Loizou, McCullough, Moreira, Riballo, Segal-Raz, Shen, Sprules, Takashima, Wang, Wang, Ward, Ward, Whitehouse   +41 more
core   +1 more source

Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care.
Daniël Zwerus, Floortje Strobbe, Annemarie A. Verrijn Stuart, Hanneke M. van Santen, Gerlof D. Valk, Sasja A. Schepers, Rachel S. van Leeuwaarde   +6 more
wiley   +1 more source

A Critical Review on New Approaches for Chronic Disease Prevention in Brazil and Canada: From Wholistic Dietary Guidelines to Physical Activity Security

Frontiers in Cardiovascular Medicine, 2021
In light of new evidence on the prevention of chronic diseases and the elevated rates of overweight and obesity in Brazil and Canada, this critical review aims to interpret and synthesize current aspects regarding dietary and physical activity ...
Juliano Schwartz, Juliano Schwartz, Paul Oh, Maira B. Perotto, Ryan E. Rhodes, Wanda Firth, Shannon S. D. Bredin, Shannon S. D. Bredin, Alejandro Gaytán-González, Alejandro Gaytán-González, Alejandro Gaytán-González, Darren E. R. Warburton, Darren E. R. Warburton, Darren E. R. Warburton   +13 more
doaj   +1 more source

Pharmacological activation of the nuclear receptor REV-ERB reverses cognitive deficits and reduces amyloid-β burden in a mouse model of Alzheimer’s disease [PDF]

, 2019
Alzheimer’s disease currently lacks treatment options that effectively reverse the biological/anatomical pathology and cognitive deficits associated with the disease.
Burris, Thomas P, Farr, Susan A, Kermath, Bailey A, Morley, John E, Musiek, Erik S, Niehoff, Michael, Roby, Deborah A, Ruiz, Fernanda, Voorhees, Jaymie R, Zhang, Jinsong   +9 more
core   +3 more sources

Nutritional and Behavioral Intervention for Long‐Term Childhood Acute Leukemia Survivors With Metabolic Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Metabolic syndrome (MetS) is a common complication in survivors of childhood acute lymphoblastic and myeloid leukemia (AL), and a major risk factor for premature cardiovascular disease, type‐2‐diabetes, and metabolic dysfunction‐associated steatotic liver disease (MASLD).
Visentin Sandrine, Béliard Sophie, Renard Cécile, Caussy Cyrielle, Hamidou Zeinab, Romano David, Gacem Mélanie, Petit Arnaud, Saultier Paul, Borentain Patrick, Michel Gérard   +10 more
wiley   +1 more source

DJ-1 as a deglycating enzyme: A unique function to explain a multifaceted protein? [PDF]

, 2017
The recently reported deglycating activity of DJ-1 reconciles several features previously described for the protein. The deglycating activity reported for DJ-1 may explain its different subcellular localizations, indeed the protein has been found in the ...
Bisaglia, Marco, DE LAZZARI, Federica
core   +2 more sources

The MedSupport Multilevel Intervention to Enhance Support for Pediatric Medication Adherence: Development and Feasibility Testing

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction We developed MedSupport, a multilevel medication adherence intervention designed to address root barriers to medication adherence. This study sought to explore the feasibility and acceptability of the MedSupport intervention strategies to support a future full‐scale randomized controlled trial.
Elizabeth G. Bouchard, Hital Patel, Paula C. Vincent, Justine Kahn, Kira Bona, Thai Hoa Tran, Elisa M. Rodriguez, Kristopher Attwood, Kara M. Kelly   +8 more
wiley   +1 more source

The frail-LESS (LEss sitting and sarcopenia in frail older adults) remote intervention to improve sarcopenia and maintain independent living via reductions in sedentary behaviour: findings from a randomised controlled feasibility trial

BMC Geriatrics
Background Sarcopenia leads to functional disability, dependence in activities of daily living (ADL), and is a key contributor to frailty. Reducing and breaking up sedentary time is associated with improved sarcopenia and frailty-related outcomes.
Daniel P. Bailey, Jamie H. Harper, Cherry Kilbride, Laura J. McGowan, Christina Victor, Marsha L. Brierley, Angel M. Chater   +6 more
doaj   +1 more source

Characteristics of US Health Care Providers Who Counsel Adolescents on Sports and Energy Drink Consumption

International Journal of Pediatrics, 2014
Objective. To examine the proportion of health care providers who counsel adolescent patients on sports and energy drink (SED) consumption and the association with provider characteristics. Methods.
Nan Xiang, Holly Wethington, Stephen Onufrak, Brook Belay   +3 more
doaj   +1 more source

Mathematical modelling of the pathogenesis of multiple myeloma-induced bone disease [PDF]

, 2014
Multiple myeloma (MM) is the second most common haematological malignancy and results in destructive bone lesions. The interaction between MM cells and the bone microenvironment plays an important role in the development of the tumour cells and MM ...
Blum B, Eriksen EF, Klein B, Lipton A, Mundy GR, Schmitt CP, Shay G   +6 more
core   +1 more source