Mild malformations of cortical development in sleep-related hypermotor epilepsy due to mutations.

Mutations in the sodium-activated potassium channel gene have been associated with nonlesional sleep-related hypermotor epilepsy (SHE). We report the co-occurrence of mild malformation of cortical development (mMCD) and mutations in four patients with SHE. Focal cortical dysplasia type I was neuropathologically diagnosed after epilepsy surgery in three unrelated MRI-negative patients, periventricular nodular heterotopia was detected in one patient by MRI.

Impact of Vitamin D Supplementation on Influenza Vaccine Response and Immune Functions in Deficient Elderly Persons: A Randomized Placebo-Controlled Trial.

Immunosenescence contributes to reduced vaccine response in elderly persons, and is worsened by deficiencies in nutrients such as Vitamin (Vit-D). The immune system is a well-known target of Vit-D, which can both potentiate the innate immune response and inhibit the adaptive system, and so modulate vaccination response. This randomized placebo-controlled double-blind trial investigated whether Vit-D supplementation in deficient elderly persons could improve influenza seroprotection and immune response.

A probabilistic map of negative motor areas of the upper limb and face: a brain stimulation study.

Negative motor responses (NMRs) are defined as movement arrests induced by direct electrical stimulation of the brain. The NMRs manifest themselves after the disruption of a corticosubcortical network involved in motor control, referred to as the 'negative motor network'. At present, the spatial topography of the negative motor areas (NMAs) is poorly known.

Predictors of fatigue and severe fatigue in a large international cohort of patients with systemic lupus erythematosus and a systematic review of the literature.

Objective: Fatigue is reported in up to 90% of patients with SLE. This study was conducted to identify the determinants associated with fatigue in a large cohort of patients with SLE, as well as to provide a systematic review of the literature.

Methods: Patients from the Lupus BioBank of the upper Rhein, a large German-French cohort of SLE patients, were included in the FATILUP study if they fulfilled the 1997 ACR criteria for SLE and had Fatigue Scale for Motor and Cognitive Functions scores collected.

Phase I dose-escalation study of F14512, a polyamine-vectorized topoisomerase II inhibitor, in patients with platinum-refractory or resistant ovarian cancer.

Purpose To determine the maximum tolerated dose (MTD) of F14512, a topoisomerase II inhibitor designed to target cancer cells through the polyamine transport system, (three-hour daily infusion given for 3 consecutive days every 3 weeks) in platinum-refractory or resistant ovarian cancer. Other objectives were safety, pharmacokinetics (PK), PK/pharmacodynamics relationship, and efficacy. Methods This was an open-label, dose-escalation, multicenter phase I study.

Physiological Effect of Prone Position in Children with Severe Bronchiolitis: A Randomized Cross-Over Study (BRONCHIO-DV).

Objective: To assess the effect of the prone position on physiological measures, including inspiratory effort, metabolic cost of breathing, and neural drive to the diaphragm as compared with the supine position in infants with severe bronchiolitis requiring noninvasive ventilation.

Study Design: Fourteen infants, median age 33 days (IQR [first and third quartiles], 25-58) were randomized to receive 7 cmHO continuous positive airway pressure for 1 hour in the prone position or in the supine position, which was followed by cross-over to the supine position and the prone position for 1 hour, respectively. Flow, esophageal, airway, gastric, and transdiaphragmatic pressures, as well as electrical activity of the diaphragm were simultaneously recorded.

Ruling out deep vein thrombosis in patients with superficial vein thrombosis: external validation of the ICARO score.

A clinical score was recently proposed to rule out concomitant DVT in patients with a clinical suspicion of SVT. This study aimed to assess the external validity of this score in patients from the STEPH study. We performed a post-hoc analysis of data from the STEPH study.

Impaired histaminergic neurotransmission in children with narcolepsy type 1.

Objective: Narcolepsy is a sleep disorder characterized in humans by excessive daytime sleepiness and cataplexy. Greater than fifty percent of narcoleptic patients have an onset of symptoms prior to the age of 18. Current general agreement considers the loss of hypothalamic hypocretin (orexin) neurons as the direct cause of narcolepsy notably cataplexy.

Effect of reflexive activation of motor units on torque development during electrically-evoked contractions of the triceps surae muscle.

The aim of the study was to identify stimulation conditions permitting the occurrence of extra torque (ET) and to examine their impact on spinal and corticospinal excitabilities. Twelve subjects received stimulation trains over the tibial nerve (20 s duration, 1 ms pulse duration) that were delivered at 3 stimulation frequencies (20, 50, and 100 Hz) and at 5 intensities (110%, 120%, 130%, 140%, and 150% of the motor threshold). Torque-time integral (TTI) of each stimulation train was calculated.

CRAC Channel Components Quantitative Expression (In Tissues and Cell Lines) Using qPCR.

Since last decade real-time qPCR has become a routine and robust approach for measuring the expression of genes of interest. Indeed, using qPCR, expression profile analyses are now possible and participate to the understanding of physiological or pathological role of channels such as calcium release-activated channels (CRAC). Initially discovered in lymphocyte T and immunity perturbations, recent studies have highlighted the role of CRAC channels in other pathologies such as cancer.

Out-of-home placement in early childhood and psychiatric diagnoses and criminal convictions in young adulthood: a population-based propensity score-matched study.

Background: To ensure their protection and healthy development, children exposed to adverse family circumstances might be placed in foster homes, institutions, or kinship care (out-of-home placement). We aimed to compare the rates of psychiatric diagnoses and criminal convictions in young adulthood (ages 18-25 years) among children who were first placed at ages 2-6 years with those of children who were not placed and who had similar sociodemographic and family characteristics.

Method: We did a population-wide cohort study using the 1987 Finnish Birth Cohort, which collects longitudinal data linking nationwide child welfare, medical, and criminal registers for all 59 476 livebirths in Finland in 1987.

Risk factors for salivary gland cancers in France: Results from a case-control study, the ICARE study.

Objectives: Epidemiological studies on the risk factors for salivary gland cancers (SGC) are rare, concern a small sample size, and show inconsistent results. The aim of the present work was to analyze several risk factors for SGC, using the data from the ICARE study, a multicenter, population-based case-control study.

Materials And Methods: Data from 73 SGC cases and 3555 controls were collected using a standardized questionnaire on lifestyle habits, personal and family medical history, and lifetime occupational history.

The epidemiology of adolescents living with perinatally acquired HIV: A cross-region global cohort analysis.

Background: Globally, the population of adolescents living with perinatally acquired HIV (APHs) continues to expand. In this study, we pooled data from observational pediatric HIV cohorts and cohort networks, allowing comparisons of adolescents with perinatally acquired HIV in "real-life" settings across multiple regions. We describe the geographic and temporal characteristics and mortality outcomes of APHs across multiple regions, including South America and the Caribbean, North America, Europe, sub-Saharan Africa, and South and Southeast Asia.

Biomarker-Guided Versus Guideline-Based Treatment of Patients With Heart Failure: Results From BIOSTAT-CHF.

Background: Heart failure guidelines recommend up-titration of angiotensin-converting enzyme (ACE) inhibitor/angiotensin receptor blockers (ARBs), beta-blockers, and mineralocorticoid receptor antagonists (MRAs) to doses used in randomized clinical trials, but these recommended doses are often not reached. Up-titration may, however, not be necessary in all patients.

Objectives: This study sought to establish the role of blood biomarkers to determine which patients should or should not be up-titrated.

Filamin A Modulates Store-Operated Ca Entry by Regulating STIM1 (Stromal Interaction Molecule 1)-Orai1 Association in Human Platelets.

Objective: Here, we provide evidence for the role of FLNA (filamin A) in the modulation of store-operated calcium entry (SOCE).

Approach And Results: SOCE is a major mechanism for calcium influx controlled by the intracellular Ca stores. On store depletion, the endoplasmic reticulum calcium sensor STIM1 (stromal interaction molecule 1) redistributes into puncta at endoplasmic reticulum/plasma membrane junctions, a process supported by the cytoskeleton, where it interacts with the calcium channels; however, the mechanism for fine-tuning SOCE is not completely understood.

Macrotrabecular-massive hepatocellular carcinoma: A distinctive histological subtype with clinical relevance.

Unlabelled: We recently identified a histological subtype of hepatocellular carcinoma (HCC), designated as "macrotrabecular-massive" (MTM-HCC) and associated with specific molecular features. In order to assess the clinical relevance of this variant, we investigated its prognostic value in two large series of patients with HCC treated by either surgical resection or radiofrequency ablation (RFA). We retrospectively included 237 HCC surgical samples and 284 HCC liver biopsies from patients treated by surgical resection and RFA, respectively.

Serum suppression of tumorigenicity 2 level is an independent predictor of all-cause mortality in HIV-infected patients.

Objective: To evaluate the predictive value of soluble suppression of tumorigenicity 2 (sST2), a decoy receptor of IL-33 involved in several inflammatory and immune diseases, for death in HIV infection.

Design: Patients enrolled in the ANRS CO3 Aquitaine Cohort, a prospective hospital-based cohort of HIV-1-infected patients, who had a plasma sample available in the biobank were systematically eligible.

Methods: sST2, soluble CD14 (sCD14) and IL-6 were measured using Luminex multiplex bead-based technology (R&D Systems) and a Bio-Plex 200 instrument (BioRad).

Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry.

Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognised by psychiatrists as a possible underlying cause of psychiatric abnormalities. This study describes NP-C patients who had psychiatric manifestations at enrolment in the international NPC Registry, a unique multicentre, prospective, observational disease registry. Treating physicians' data entries describing psychiatric manifestations in NPC patients were coded and grouped by expert psychiatrists.

Self-Reported Bothersome Symptoms Across Different Socioepidemiological Groups of People Living With HIV Attending French Hospitals: Results From the ANRS-VESPA2 Survey.

Context: Twenty years after the advent of combined antiretroviral therapies (ARTs), there is a growing need for up-to-date information about the daily experience of people living with HIV (PLWH).

Objectives: This study aimed to investigate the relationship between socioepidemiological groups and the types of bothersome symptoms reported by PLWH participating in a national survey in France.

Methods: We analyzed self-reported bothersome symptoms in a representative sample of PLWH (ANRS-VESPA2 survey), most of whom were receiving ART treatment.

Global analysis of H3K27me3 as an epigenetic marker in prostate cancer progression.

Background: H3K27me3 histone marks shape the inhibition of gene transcription. In prostate cancer, the deregulation of H3K27me3 marks might play a role in prostate tumor progression.

Methods: We investigated genome-wide H3K27me3 histone methylation profile using chromatin immunoprecipitation (ChIP) and 2X400K promoter microarrays to identify differentially-enriched regions in biopsy samples from prostate cancer patients.

Visual outcomes and complications of cataract surgery with primary implantation in infants.

Purpose: To describe the visual results and postoperative complications of cataract surgery with primary intraocular lens (IOL) implantation performed in infants and to determine possible predictive factors related to poor visual outcome.

Methods: A retrospective consecutive case series of cataract surgeries with primary IOL implantation in infants was performed. Visual outcome and postoperative complications were recorded.