A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.

Objective: To ascertain the clinical and genetic factors contributing to carbamazepine- and oxcarbazepine-induced hyponatremia (COIH), and to carbamazepine (CBZ) metabolism, in a retrospectively collected, cross-sectional cohort of people with epilepsy.

Methods: We collected data on serum sodium levels and antiepileptic drug levels in people with epilepsy attending a tertiary epilepsy center while on treatment with CBZ or OXC. We defined hyponatremia as Na+ ≤134 mEq/L.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Juvenile myoclonic epilepsy (JME) is a common syndrome of genetic generalized epilepsies (GGEs). Linkage and association studies suggest that the gene encoding the bromodomain-containing protein 2 (BRD2) may increase risk of JME. The present methylation and association study followed up a recent report highlighting that the BRD2 promoter CpG island (CpG76) is differentially hypermethylated in lymphoblastoid cells from Caucasian patients with JME compared to patients with other GGE subtypes and unaffected relatives.

Impact of Collateral Filling Delay on the Development of Subacute Complications After Acute Ischemic Stroke.

Purpose: Leptomeningeal collaterals play a pivotal role in acute ischemic stroke. While most collateral scores rely on subjective visual analysis, an objective quantification is possible using dynamic computed tomography (CT) angiography (dynCTA). The aim was to determine the value of collateral filling delay (CFD) as assessed by dynCTA for predicting subacute stroke complications.

Imaging of Patients with Suspected Large-Vessel Occlusion at Primary Stroke Centers: Available Modalities and a Suggested Approach.

The overwhelming benefit of endovascular therapy in patients with large-vessel occlusions suggests that more patients will be screened than treated. Some of those patients will be evaluated first at primary stroke centers; this type of evaluation calls for standardizing the imaging approach to minimize delays in assessing, transferring, and treating these patients. Here, we propose that CT angiography (performed at the same time as head CT) should be the minimum imaging approach for all patients with stroke with suspected large-vessel occlusion presenting to primary stroke centers.

Genotypes and phenotypes of patients with Lafora disease living in Germany.

Background: Lafora progressive myoclonus epilepsy (Lafora disease) is a rare, usually childhood-onset, fatal neurodegenerative disease caused by biallelic mutations in (Laforin) or (, Malin). The epidemiology of Lafora disease in Germany is largely unknown. The objective of this retrospective case series is to characterize the genotypes and phenotypes of patients with Lafora disease living in Germany.

Wavelet-based reconstruction of dynamic susceptibility MR-perfusion: a new method to visualize hypervascular brain tumors.

Objectives: Parameter maps based on wavelet-transform post-processing of dynamic perfusion data offer an innovative way of visualizing blood vessels in a fully automated, user-independent way. The aims of this study were (i) a proof of concept regarding wavelet-based analysis of dynamic susceptibility contrast (DSC) MRI data and (ii) to demonstrate advantages of wavelet-based measures compared to standard cerebral blood volume (CBV) maps in patients with the initial diagnosis of glioblastoma (GBM).

Methods: Consecutive 3-T DSC MRI datasets of 46 subjects with GBM (mean age 63.

Molecular factors governing the viscosity peak of giant micelles in the presence of salt and fragrances.

Hypothesis: The formation of transient networks of giant micelles leads to a viscosity peak when salt is added to aqueous solutions of charged surfactants. It is the consequence of an increase of the packing parameter due to charge screening of the surfactant headgroups, leading to a continuous transformation of the aggregates from spherical to wormlike micelles, and finally to branched networks. It should therefore be possible to predict the macroscopic viscosity of entangled giant micelles by modelling the packing parameter at nanoscale.

Bioccipital Lobe Hypoperfusion and Anton's Syndrome Resolution with Intravenous Thrombolysis.

Background: Anton's syndrome is a rare neurological disorder characterized by a combination of visual anosognosia and confabulation of visual experience, most often seen after bilateral ischemic damage to the posterior occipital cortex.

Case Report: We report the first case of an acute synchronous P2 occlusion as confirmed by multiparametric computed tomography (CT) including perfusion. After the administration of Recombinant tissue plasminogen activator (rtPA), Anton's syndrome completely resolved.

Identification and characterization of myocardial metastases in neuroendocrine tumor patients using 68Ga-DOTATATE PET-CT.

Background: Focal 68Ga-DOTATATE PET lesions within the myocardium of neuroendocrine tumor (NET) patients are observed in clinical practice. We determined the frequency and characteristics of lesions that are consistent with cardiac metastasis and assessed the lesion detection rate of conventional imaging.

Methods: 629 patients who underwent 68Ga-DOTATATE PET-CT at a supraregional comprehensive cancer center on NET were included from a consecutive registry.

Automated MR-based lung volume segmentation in population-based whole-body MR imaging: correlation with clinical characteristics, pulmonary function testing and obstructive lung disease.

Objectives: Whole-body MR imaging is increasingly utilised; although for lung dedicated sequences are often not included, the chest is typically imaged. Our objective was to determine the clinical utility of lung volumes derived from non-dedicated MRI sequences in the population-based KORA-FF4 cohort study.

Methods: 400 subjects (56.

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Background: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in genetic generalised epilepsy.

Cost-effectiveness of Endovascular Therapy for Acute Ischemic Stroke: A Systematic Review of the Impact of Patient Age.

Purpose To determine the impact of patient age on the cost-effectiveness of endovascular therapy (EVT) in addition to standard care (SC) in large-vessel-occlusion stroke for patients aged 50 to 100 years in the United States. Materials and Methods A decision-analytic Markov model was used to estimate direct and indirect lifetime costs and quality-adjusted life years (QALYs). Age-dependent input parameters were obtained from the literature.

CT attenuation of liver metastases before targeted therapy is a prognostic factor of overall survival in colorectal cancer patients. Results from the randomised, open-label FIRE-3/AIO KRK0306 trial.

Objectives: To assess the prognostic value of pre-therapeutic computed tomography (CT) attenuation of liver metastases for overall survival (OS) in metastatic colorectal cancer (mCRC).

Methods: In the open-label, randomised, prospective phase-III FIRE-3 trial, patients with histologically confirmed mCRC received fluorouracil (5-FU), leucovorin and irinotecan (FOLFIRI) with either cetuximab or bevacizumab. Participating patients gave written informed consent prior to study entry.

Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.

Emerging gene therapy approaches that aim to eliminate pathogenic mutations of mitochondrial DNA (mtDNA) rely on efficient degradation of linearized mtDNA, but the enzymatic machinery performing this task is presently unknown. Here, we show that, in cellular models of restriction endonuclease-induced mtDNA double-strand breaks, linear mtDNA is eliminated within hours by exonucleolytic activities. Inactivation of the mitochondrial 5'-3'exonuclease MGME1, elimination of the 3'-5'exonuclease activity of the mitochondrial DNA polymerase POLG by introducing the p.

Cellulose and chitin composite materials from an ionic liquid and a green co-solvent.

We report on a method for the preparation of cellulose/chitin composite materials from the ionic liquid 1-butyl-3-methylimidazolium acetate and γ-valerolactone as a biosourced sustainable co-solvent. Element analysis and attentuated total reflectance Fourier transform infrared spectroscopy show that the average degree of acetylation of chitin in the composite materials was around 82.5%.

Predictive value of coronary computed tomography angiography in asymptomatic individuals with diabetes mellitus: Systematic review and meta-analysis.

Background: Coronary CT angiography (CTA) is generally not established as a screening tool for asymptomatic individuals. However, it is controversial whether this test may have a role for screening asymptomatic individuals with diabetes mellitus (DM) due to the high prevalence of asymptomatic coronary artery disease (CAD) in this subgroup.

Methods: We searched PubMed and EMBASE through May 2017 for studies that reported on the association between findings at coronary CTA and future cardiac events in asymptomatic individuals with DM.

Effect of stroke thrombolysis predicted by distal vessel occlusion detection.

Objective: Among ischemic stroke patients with negative CT angiography (CTA), we aimed to determine the predictive value of enhanced distal vessel occlusion detection using CT perfusion postprocessing (waveletCTA) for the treatment effect of IV thrombolysis (IVT).

Methods: Patients were selected from 1,851 consecutive patients who had undergone CT perfusion. Inclusion criteria were (1) significant cerebral blood flow (CBF) deficit, (2) no occlusion on CTA, and (3) infarction confirmed on follow-up.

Functional variants in and may contribute to genetic generalized epilepsy.

Objective: Genetic generalized epilepsy (GGE) encompasses seizure disorders characterized by spike-and-wave discharges (SWD) originating within thalamo-cortical circuits. Hyperpolarization-activated (HCN) and T-type Ca channels are key modulators of rhythmic activity in these brain regions. Here, we screened and genes for potentially contributory variants and provide their functional analysis.

Is There Still Any Role for Oxidative Stress in Mitochondrial DNA-Dependent Aging?

Recent deep sequencing data has provided compelling evidence that the spectrum of somatic point mutations in mitochondrial DNA (mtDNA) in aging tissues lacks G > T transversion mutations. This fact cannot, however, be used as an argument for the missing contribution of reactive oxygen species (ROS) to mitochondria-related aging because it is probably caused by the nucleotide selectivity of mitochondrial DNA polymerase γ (POLG). In contrast to point mutations, the age-dependent accumulation of mitochondrial DNA deletions is, in light of recent experimental data, still explainable by the segregation of mutant molecules generated by the direct mutagenic effects of ROS (in particular, of HO· radicals formed from H₂O₂ by a Fenton reaction).

Thalamic Diaschisis in Acute Ischemic Stroke: Occurrence, Perfusion Characteristics, and Impact on Outcome.

Background And Purpose: Ipsilateral thalamic diaschisis (ITD) describes the reduction of thalamic function, metabolism, and perfusion resulting from a distant lesion of the ipsilateral hemisphere. Our aim was to evaluate the perfusion characteristics and clinical impact of ITD in acute middle cerebral artery stroke, which does not directly affect the thalamus.

Methods: One hundred twenty-four patients with middle cerebral artery infarction were selected from a prospectively acquired cohort of 1644 patients who underwent multiparametric computed tomography (CT), including CT perfusion for suspected stroke.