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
Patient-Reported Healing of Static Computer-Assisted Sinus Lateral Window Osteotomy: A Randomized Controlled Trial. [PDF]
Narongchai N +5 more
europepmc +1 more source
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah +7 more
wiley +1 more source
Designing a computer-assisted diagnosis system for cardiomegaly detection and radiology report generation. [PDF]
Zhu T +7 more
europepmc +1 more source
The McCance Brain Care Score and Mortality: Evidence From a Large‐Scale Population‐Based Cohort
ABSTRACT Objectives This study aimed to examine the relationship between the McCance Brain Care Score (BCS) and mortality in the general population. Methods We conducted a prospective, population‐based cohort study using data from the UK Biobank. Participants with complete data enabling calculation of BCS and full mortality information were included ...
Zhiqiang Xu, Xiaoxiao Wang, Nan Li
wiley +1 more source
Accuracy of Robotic Computer-Assisted Implant Surgery Combined With Transcrestal Sinus Floor Elevation for Single-Tooth Implants: A Retrospective Case Series. [PDF]
Jia J, Du L, He L, Li Z, Li Y, Lv C.
europepmc +1 more source
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
A semi supervised framework for human and machine collaboration in computer assisted text refinement. [PDF]
Sun Y, Wang Y, Yang H, Suen R.
europepmc +1 more source
Evaluation of cup placement accuracy in computer assisted total hip arthroplasty. [PDF]
Kaneta H +5 more
europepmc +1 more source

