Focal cortical dysplasia (FCD) is a malformation of cortical development that is associated with high rates of cognitive morbidity. However, the degree to which specific irregularities of dysplastic tissue directly impact cognition remains unknown. This study investigates the relationship between blurring of the cortical gray and white matter boundary on magnetic resonance imaging (MRI) and glo...

INTRODUCTION Corpora amylacea (CoA) are present in about 60% of atrophic hippocampi resected from patients with drug resistant temporal lobe epilepsy (DRTLE). They have also been described in the lateral temporal neocortex, although less frequently. OBJECTIVE The objective is to measure the presence, distribution and density of CoA in the lateral temporal lobes of patients with DRTLE and foca...

Fanconi anemia (FA) is a cancer susceptibility syndrome characterized by defective DNA interstrand cross-link (ICL) repair. Here, we show that DOG-1 is the Caenorhabditis elegans homologue of FANCJ, a helicase mutated in FA-J patients. DOG-1 performs a conserved role in ICL repair, as dog-1 mutants are hypersensitive to ICL-inducing agents, but not to UVC irradiation or X rays. Genetic analysis...

PURPOSE To characterize histologically Descemet's membrane in an early-onset Fuchs corneal dystrophy (FCD) COL8A2 mutant and compare these findings with corneas from late-onset FCD and normal corneas. METHODS A corneal explant from a patient with the L450W COL8A2 mutation and others with late-onset disease were studied with antibodies to collagens IV, VIIIA1, VIIIA2, fibronectin, and laminin....

The new wave of successful generative models in machine learning has increased the interest in deep learning driven de novo drug design. However, assessing the performance of such generative models is notoriously difficult. Metrics that are typically used to assess the performance of such generative models are the percentage of chemically valid molecules or the similarity to real molecules in t...

Objective To investigate the neuroimaging and clinical features associated with sleep-related epilepsy (SRE) in patients with focal cortical dysplasia (FCD) type II. Methods Patients with histopathologically proven FCD type II were included from three epilepsy centers. SRE was defined according to the video EEG findings and seizure history. Cortical surface reconstruction and volume calculati...

The study by Fauser and colleagues on subtypes of focal cortical dysplasia (FCD) and their impact on post-surgical outcome in focal epilepsies (Fauser et al., 2004) focussed on reports of milder forms of FCD, i.e. focal cortical dysplasia type I (Type 1-FCD) and mild malformations of cortical development (mMCD) according to a recent classification system (Palmini et al., 2004). These entities w...

PURPOSE To evaluate the natural course of the long-term endothelial cell changes in Fuchs corneal dystrophy (FCD) patients and investigate the effects of phacoemulsification on the annual rate of change in endothelial indices in FCD patients. METHODS Thirty-four patients diagnosed with FCD at Seoul National University Hospital from 1994 to 2010 were retrospectively reviewed. Sixteen patients ...

BACKGROUND Changes in the microcirculation have been recognized to play a crucial role in many disease processes. In premature neonates, functional capillary density (FCD) decreases during the first months of life. OBJECTIVES The aims of this study were to obtain microcirculatory parameters in term neonates and older children who did not present with compromised respiration or circulation and...