ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Designing a management model for outsourcing non-clinical services in public hospitals in Iran. [PDF]
Merati S +3 more
europepmc +1 more source
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
Predictors of surgical site infections following cesarean delivery in public hospitals of West Ethiopia: A cohort study. [PDF]
Hambisa MA +9 more
europepmc +1 more source
Prioritizing the Challenges of Compensation Methods for Doctors and Nurses in Iranian Public Hospitals [PDF]
Mohammad Hasan Maleki +2 more
openalex +1 more source
Unhygienic Practices of Health Professionals in Brazilian Public Hospital Restaurants: An Alert to Promote New Policies and Hygiene Practices in the Hospitals [PDF]
Cainara Lins Draeger +5 more
openalex +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
Evaluating the implementation of guideline-directed medical therapy in the treatment of chronic heart failure at public hospitals in Ethiopia. [PDF]
Fetene A +6 more
europepmc +1 more source
Job Satisfaction Level among the Public Hospital Doctors in Chongqing China and Its associated Factors [PDF]
L Xi-Tong
openalex +1 more source
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo +9 more
wiley +1 more source

