Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/S1467-2987(16)31343-5 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol.
Orphanet J Rare Dis
January 2025
Division of Pediatric Epileptology, Department of Pediatrics I, Medical Faculty of Heidelberg, Heidelberg University, Heidelberg, Germany.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organ systems, with a prevalence of 1:6,760-1:13,520 live births in Germany. On the molecular level, TSC is caused by heterozygous loss-of-function variants in either of the genes TSC1 or TSC2, encoding the Tuberin-Hamartin complex, which acts as a critical upstream suppressor of the mammalian target of rapamycin (mTOR), a key signaling pathway controlling cellular growth and metabolism. Despite the therapeutic success of mTOR inhibition in treating TSC-associated manifestations, studies with mTOR inhibitors in children with TSC above two years of age have failed to demonstrate beneficial effects on disease-related neuropsychological deficits.
View Article and Find Full Text PDFExploring the relationship between proactive inhibition and restrictive eating behaviours in severe and enduring anorexia nervosa (SE-AN).
J Eat Disord
January 2025
Centre for Research in Eating and Weight Disorders, Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Background: There is a need for improved understanding of why 20-30% of individuals with anorexia nervosa (AN) develop a severe and enduring form of illness (SE-AN). Previously, we reported differences in proactive inhibition (a pre-emptive slowing of responses) in individuals with AN compared to healthy controls (after controlling for intolerance of uncertainty). The present study is a preliminary exploration of proactive inhibition in which we compared women with SE-AN with healthy comparison (HC) women and explored its association with restrictive/avoidant eating behaviours.
View Article and Find Full Text PDFEnhancing the Integration of Pre-Emptive Pharmacogenetic (PGx) Testing in Primary Care: Prioritizing Underserved Patients' Preferences in Implementation.
J Pers Med
November 2024
Department of Health Outcomes and Biomedical Informatics, College of Medicine, University of Florida, Gainesville, FL 32610, USA.
: The integration of pharmacogenetic (PGx) testing into primary care has not been widely implemented, despite its benefits for patients and providers. PGx testing could also reduce health disparities as patients with lower healthcare access are prescribed higher proportions of medications with PGx guidelines. Little is known about the preferences of patients who have experienced PGx testing to inform implementation across the care process.
View Article and Find Full Text PDFPush toward pre-emptive kidney transplantation - for sure?
Clin Kidney J
December 2024
INSERM Unit 1018, Team 5, CESP, Hôpital Paul Brousse, Paris-Sud University and Versailles Saint-Quentin-en-Yvelines University, Villejuif, France.
Pre-emptive kidney transplantation (PKT) has long been considered the optimal treatment for patients with end-stage chronic kidney disease (CKD) seeking the most favourable long-term outcomes. However, the significant growth in transplant procedures over recent decades has led to a notable increase in wait-listed patients and a disproportionate demand for donor organs. This situation necessitates a re-evaluation of transplantation timing and the establishment of rational indications from both societal and clinical perspectives.
View Article and Find Full Text PDFUnderappreciated Effects of Delayed Graft Function in Pediatric Kidney Transplantation.
Pediatr Transplant
February 2025
Lewis Katz School of Medicine at Temple University, Philadelphia, Pennsylvania, USA.
Purpose: In kidney transplantation (KT), delayed graft function (DGF) is associated with worse outcomes. However, it is unclear what effect DGF plays in long-term survival compared to the impact of the various transplant, donor, and recipient risk factors associated with DGF. This study aims to determine the effect of DGF alone on long-term survival in pediatric deceased donor kidney transplant recipients (DDKTRs).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!