SeqVerify: An accessible analysis tool for cell line genomic integrity, contamination, and gene editing outcomes.

Over the last decade, advances in genome editing and pluripotent stem cell (PSC) culture have let researchers generate edited PSC lines to study a wide variety of biological questions. However, abnormalities in cell lines such as aneuploidy, mutations, on-target and off-target editing errors, and microbial contamination can arise during PSC culture or due to undesired editing outcomes. The ongoing decline of next-generation sequencing prices has made whole-genome sequencing (WGS) a promising option for detecting these abnormalities.

Directed functional connectivity of the default-mode-network of young and older healthy subjects.

Alterations in the default mode network (DMN) are associated with aging. We assessed age-dependent changes of DMN interactions and correlations with a battery of neuropsychological tests, to understand the differences of DMN directed connectivity between young and older subjects. Using a novel multivariate analysis method on resting-state functional MRI data from fifty young and thirty-one healthy older subjects, we calculated intra- and inter-DMN 4-nodes directed pathways.

Directed functional connectivity of the sensorimotor system in young and older individuals.

Introduction: Studies in the sensorimotor system of older versus young individuals have shown alterations in functional connectivity and organization. Our objective was to explore the implications of these differences in terms of local organizations, and to identify processes that correlate with neuropsychological parameters.

Methods: Using a novel multivariate analysis method on resting-state functional MRI data obtained from 50 young and 31 older healthy individuals, we identified directed 4-node functional pathways within the sensorimotor system and examined their correlations with neuropsychological assessments.

A functional magnetic resonance imaging investigation of prefrontal cortex deep transcranial magnetic stimulation efficacy in adults with attention deficit/hyperactive disorder: A double blind, randomized clinical trial.

ADHD is one of the most prevalent neurocognitive disorders. Deep Transcranial Magnetic Stimulation (dTMS) is a non-invasive neuromodulation tool that holds promise in treatment of neurocognitive disorders. Hypoactivity of the prefrontal cortex (PFC) has been observed in ADHD.

Interictal Epileptiform Discharge Dynamics in Peri-sylvian Polymicrogyria Using EEG-fMRI.

Polymicrogyria (PMG) is a common malformation of cortical development associated with a higher susceptibility to epileptic seizures. Seizures secondary to PMG are characterized by difficult-to-localize cerebral sources due to the complex and widespread lesion structure. Tracing the dynamics of interictal epileptiform discharges (IEDs) in patients with epilepsy has been shown to reveal the location of epileptic activity sources, crucial for successful treatment in cases of focal drug-resistant epilepsy.

Bilateral epileptic networks in congenital and acquired corpus callosum defects: EEG-fMRI study.

Objectives: Electroencephalography-correlated functional magnetic resonance imaging (EEG-fMRI) allows imaging of brain-wide epileptic networks, and demonstrates that focal interictal epileptic activity is sometimes accompanied by bilateral functional activations. The corpus callosum (CC) facilitates bilateral spread of epileptic activity and at times targeted surgically for drug-resistant epilepsy (DRE). We hypothesized that focal epileptic networks are more unilateral in patients lacking intact CC.

Treatment with antiepileptic drugs in patients with stroke. A change in clinical practice may be required.

Background: Stroke prevention is an important socio-economic aim. Epilepsy and antiepileptic drugs (AEDs), roughly divided into enzyme-inducers and non-enzyme-inducers, have been associated with increased risk of stroke.

Methods: A retrospective review of patients admitted with a diagnosis of anytime stroke and taking at least one AED was performed.

Utilization of antiepileptic drugs in Israel.

Purpose: The aim of the study was to identify trends in utilization of antiepileptic drugs (AEDs) over time in a nation-wide population in Israel.

Methods: Data on AED utilization (for all indications) for the period 2010-2014 were obtained from pharmaceutical companies that distribute AEDs in Israel. Prevalence of AED utilization was reported as defined daily doses (DDD)/1000 inhabitants/day.

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.

Objective: To analyze the clinical syndromes and inheritance patterns of multiplex families with epilepsy toward the ultimate aim of uncovering the underlying molecular genetic basis.

Methods: Following the referral of families with 2 or more relatives with epilepsy, individuals were classified into epilepsy syndromes. Families were classified into syndromes where at least 2 family members had a specific diagnosis.

An evaluation of pharmacist knowledge on treatment with antiepileptic drugs.

Purpose: As pharmacists play an important role in managing antiepileptic drug (AED) therapy, they should be aware of different aspects of the treatment. Our aim was to evaluate pharmacists' knowledge of the pharmacological treatment of epilepsy, and their recommendations under hypothetical situations, through a written questionnaire.

Methods: The questionnaire included 22 questions divided into three sections: demographic data (eight questions), knowledge of specific aspects of AED therapy (true/false; four questions), and actions taken in theoretical situations involving AED therapy (multiple choice; ten questions).

Issues and promise in clinical studies of botanicals with anticonvulsant potential.

Botanicals are increasingly used by people with epilepsy worldwide. However, despite abundant preclinical data on the anticonvulsant properties of many herbal remedies, there are very few human studies assessing safety and efficacy of these products in epilepsy. Additionally, the methodology of most of these studies only marginally meets the requirements of evidence-based medicine.

Asystole in the epilepsy unit.

Background: Early identification of cardiac asystole as a reason for syncope is of uttermost significance, as insertion of a cardiac pacemaker can save the patient's life and prevent severe injury. The aim of this work was to emphasize the subtle and unusual presentations of asystole in patients evaluated in epilepsy units.

Methods: We reviewed the clinical presentation, ECG and EEG data of a series of seven patients who were evaluated in four epilepsy units and were diagnosed with asystole.

Central fever in patients with spontaneous intracerebral hemorrhage: predicting factors and impact on outcome.

Background: Central fever (CF) is defined as elevated temperature with no identifiable cause. We aimed to identify risk factors for developing CF among patients with spontaneous intracerebral hemorrhage (ICH) and to evaluate the impact of CF on outcome.

Methods: Patients included in our prospective stroke registry between 1/1/09 and 1/10/10 were studied.

CCR5-Delta32 allele frequencies in Ashkenazi Jews.

This study was carried out to determine the 32-bp deletion allele frequencies in the CCR5 gene (CCR5-Delta32) in various populations of Jews of eastern European origin (Ashkenazi Jews). The total population sample (n = 351) represented Ashkenazi Jews originating from seven geographic groups in Europe. The overall frequency of the CCR5-Delta32 allele was elevated (13.

Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay.

A polymerase chain reaction (PCR) assay was used to detect the two most common alpha-1-antitrypsin (A1AT) deficiency variants, S and Z. By co-amplification using primers for both the S and Z mutations, we were able to detect heterozygous and homozygous genotypes for both mutations and normal type M in a single duplex reaction. We validated our assay by comparison with phenotype studies obtained by the standard isoelectrofocusing technique.

The use of nested RT-PCR of prostate-specific membrane antigen in blood cells: implications for the detection of haematogenous neoplastic cells in patients with prostate adenocarcinoma.

The aim of this study was to determine the presence of haematogenous neoplastic cells in patients with prostate cancer. Circulating prostate cells can be detected in cancer patients by using a nested-reverse transcriptase-polymerase chain reaction assay (RT-PCR), for prostate-specific membrane (PSM) antigen mRNA. This sensitive nested RT-PCR assay may play a crucial role in the administration of adjuvant therapy of patients with prostate adenocarcinoma.

Pattern of gradient of apolipoprotein E allele *4 frequencies in western Europe.

The apolipoprotein E gene (APOE) is located on chromosome 19. The three most common APOE alleles account for most of the corresponding peptide chain variations in most human populations. APOE*3 is the most common allele, coding for the product E3; APOE*2 codes for an Arg-158-->Cys substitution (E2), and APOE*4 codes for a Cys-112-->Arg product (E4).

Trinucleotide GAA repeat expansions in seven French Friedreich ataxia families.

We collected 7 Friedreich ataxia (FRDA) pedigrees from France. All cases but one family were homozygous for an unstable GAA trinucleotide expansion in the first intron of the frataxin gene. In this peculiar pedigree absence of the GAA expansion supports the notion of possible genetic heterogeneity of FRDA.

Patterns of meiotic variability of the (CAG)n repeat in the Huntington disease gene.

We have collected 76 parent-offspring (CAG)n values in 60 French Huntington's disease (HD) pedigrees. The analysis of intergenerational alterations in CAG repeat length shows that there is a correlation between repeat instability and parental repeat length. Paternally inherited cases are characterized by a preferential trend towards an increase in range of repeat sizes in offspring of HD patients.

Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families.

The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, D, and T), corresponding to poor metabolizer (PM) phenotypes, were determined by restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR) in 47 patients with Parkinson disease, and compared with the findings in 47 healthy controls. These mutant alleles were about twice as frequent among patients as in controls, with an approximate relative risk ratio of 2.12 (95% confidence interval, 1.