FANCL supports Parkin-mediated mitophagy in a ubiquitin ligase-independent manner.

Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome. The FA proteins have functions in genome maintenance and in the cytoplasmic process of selective autophagy, beyond their canonical roles of repairing DNA interstrand cross-links. FA core complex proteins FANCC, FANCF, FANCL, FANCA, FANCD2, BRCA1 and BRCA2, which previously had no known direct functions outside the nucleus, have recently been implicated in mitophagy.

Remote neuropsychological assessment: Acceptability and feasibility of direct-to-home teleneuropsychology methodology during the COVID-19 pandemic.

Objective: To determine the acceptability and feasibility of telephone and video-conference calls to complete cognitive assessments during the COVID-19 pandemic.

Method: In rapid response to the pandemic, evidence-based adaptations were made to routine face-to-face (FTF) practice, delivering teleneuropsychology (TNP) within a National Health Service (NHS) Scotland neuropsychology service. Caldicott guardian approval was obtained to complete a six month study (April to October 2020) from the early stages of the first United Kingdom (UK) lockdown.

Academic Life in Emergency Medicine (ALiEM) Blog and Podcast Watch: Infectious Diseases.

The Academic Life in Emergency Medicine (ALiEM) Approved Instructional Resources (AIR) Series and Approved Instructional Resources - Professional (AIR-Pro) Series were created in 2014 and 2015, respectively, in response to the growing need to curate online educational content as well as create a nationally available curriculum that meets individualized interactive instruction criteria for emergency medicine (EM) trainees. These two online series identify high-quality educational blog and podcast content using an expert-based approach. The AIR series is a continuously building curriculum originally based on the Council of Emergency Medicine Directors (CORD) testing schedule.

Incidence of early-onset epilepsy: A prospective population-based study.

Purpose: The first five years of life reflect a critical period of development prior to formal education yet few epidemiological studies focus on children with early-onset epilepsy (CWEOE; onset <60 months). This study aimed to determine early-onset epilepsy incidence using a comprehensive case identification strategy, and examined socioeconomic status (SES) and ethnicity as risk factors.

Methods: Through a prospective, population-based study, newly diagnosed CWEOE from Fife and Lothian, Scotland, were identified using multiple-source, active surveillance capture-recapture between May 2013 and June 2015.

Neurobehavioral problems in children with early-onset epilepsy: A population-based study.

Purpose: Neurobehavioral problems (i.e., cognitive impairment/behavior problems) are a major challenge in childhood epilepsy.