Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Is histological grade a useful parameter in muscle-invasive urothelial bladder cancer? Results from a multicenter study on the impact of different grading systems on disease-free survival after upfront radical cystectomy. [PDF]
Rinderknecht E +23 more
europepmc +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Correlation analysis of invasive disease-free survival and overall survival in a real-world population of patients with HR+/HER2- early breast cancer. [PDF]
Graff SL +10 more
europepmc +1 more source
Hospital Readmission After Traumatic Brain Injury Hospitalization in Community‐Dwelling Older Adults
ABSTRACT Objective To examine the risk of hospital readmission after an index hospitalization for TBI in older adults. Methods Using data from the Atherosclerosis Risk in Communities (ARIC) study, we used propensity score matching of individuals with an index TBI‐related hospitalization to individuals with (1) non‐TBI hospitalizations (primary analysis)
Rachel Thomas +7 more
wiley +1 more source
The value of inflammation-related indicators in chemotherapy efficacy and disease-free survival of triple-negative breast cancer. [PDF]
Zhu J +7 more
europepmc +1 more source
Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian +9 more
wiley +1 more source
Phase II randomised controlled basket feasibility trial of a personalised, remotely delivered exercise programme on disease-free survival among early-stage, high-risk cancers: CANFit study protocol. [PDF]
Bullock AF +10 more
europepmc +1 more source
Sex Hormones Associate With Amyotrophic Lateral Sclerosis Risk and Survival
ABSTRACT Amyotrophic lateral sclerosis (ALS) risk differs by sex and age, implicating sex hormones as potential modifiers. This study examined plasma levels of biologically active sex hormones and their association with ALS odds and survival in cases (females n = 131, males n = 189) and controls (females n = 138, males n = 150) from the University of ...
Stephen A. Goutman +5 more
wiley +1 more source

