Transcriptomic and metabolic signatures of neural cells cultured under a physiologic-like environment.

Cultured brain cells are used conventionally to investigate fundamental neurobiology and identify therapeutic targets against neural diseases. However, standard culture conditions do not simulate the natural cell microenvironment, thus hampering in vivo translational insight. Major weaknesses include atmospheric (21%) O tension and lack of intercellular communication, the two factors likely impacting metabolism and signaling.

Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.

Introduction: Sudden Unexplained Death in Childhood (SUDC) needs to be fully assessed considering its impact on the family, parents and siblings. Inborn Errors of Metabolism (IEM) such as Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) should be taken into consideration when SUDC occurres. Our aim is to present a family with two successive SUDC and to discuss the post-mortem genetics investigations revealing an IEM implication.

Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.

Background And Purpose: HIBCH and ECHS1 genes encode two enzymes implicated in the critical steps of valine catabolism, 3-hydroxyisobutyryl-coenzyme A (CoA) hydrolase (HIBCH) and short-chainenoyl-CoA hydratase (ECHS1), respectively. HIBCH deficiency (HIBCHD) and ECHS1 deficiency (ECHS1D) generate rare metabolic dysfunctions, often revealed by neurological symptoms. The aim of this study was to describe movement disorders spectrum in patients with pathogenic variants in ECHS1 and HIBC.

Molecular and clinical descriptions of patients with GABA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

Objective: γ-Aminobutyric acid (GABA) -receptor subunit variants have recently been associated with neurodevelopmental disorders and/or epilepsy. The phenotype linked with each gene is becoming better known. Because of the common molecular structure and physiological role of these phenotypes, it seemed interesting to describe a putative phenotype associated with GABA -receptor-related disorders as a whole and seek possible genotype-phenotype correlations.

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.

Cause of complex dyskinesia remains elusive in some patients. A homozygous missense variant leading to drastic decrease of PDE2A enzymatic activity was reported in one patient with childhood-onset choreodystonia preceded by paroxysmal dyskinesia and associated with cognitive impairment and interictal EEG abnormalities. Here, we report three new cases with biallelic PDE2A variants identified by trio whole-exome sequencing.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

Background: Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy.

Methods: Reported females were selected for genetic testing because of substantial developmental problems and/or epilepsy.

Growth and structure of ultrathin alumina films on the (1 1 0) surface of γ-Al4Cu9 complex metallic alloy.

The first stages of oxidation of the (1 1 0) surface of a γ-Al(4)Cu(9) complex metallic alloy were investigated by combining x-ray photoemission spectroscopy, low energy electron diffraction and scanning tunnel microscopy studies. Oxidation at room temperature in the 2 × 10(-8) to 2 × 10(-7) mbar oxygen pressure range occurs in two steps: a fast regime is followed by a much slower one, leading to the formation of a thin aluminium oxide film showing no long range order. Cu-O bonds are never observed, due to fast oxygen induced aluminium segregation.

The impact of facial lipoatrophy treatment with polymethyl methacrylate in AIDS patients as measured by four quality-of-life questionnaires.

Life-expectancy increased in patients infected with HIV/AIDS with the advent of highly active antiretroviral therapy (ART). Facial lipoatrophy is a common complication in these patients, eventually leading to stigma, segregation and a negative impact in quality of life (QOL). We measured the impact of the treatment of facial lipoatrophy with polymethyl methacrylate (PMMA) in the QOL of patients with HIV/AIDS by using four questionnaires that address QOL.

The effect of a 3 : 1 volume mixture of propofol 1% and thiopental 2.5% in reducing the pain on injection of propofol in children.

Background: In this prospective, randomized, double-blind, controlled trial, our primary objective was to assess the effect of a 3 : 1 mixture of propofol and thiopental in reducing pain on injection in children. Our hypothesis was that a 3 : 1 mixture of propofol and thiopental (treatment) would reduce the incidence of pain on injection to 20% compared to the expected incidence of 40% in the control group of an 11 : 1 mixture of propofol and 2% lidocaine.

Methods: Study subjects were patients 12-17 years old who were scheduled to undergo surgery and general anesthesia.

Synthesis of polystyrene coated SiC nanowires as fillers in a polyurethane matrix for electromechanical conversion.

Grafting of polystyrene (PS) from silica coating of silicon carbide nanowires (SiCNWs) has been performed by a two-step nitroxide mediated free radical polymerization (NMP) of styrene. First, an alkoxyamine based on N-tert-butyl-N-(1-diethylphosphono-2,2-dimethylpropyl) nitroxide (DEPN) was covalently attached onto NWs through free surface silanol groups. To immobilize the alkoxyamine initiator on the silica surface, alkoxylamine was formed in situ by the simultaneous reaction of polymerizable acryloxy propyl trimethoxysilane (APTMS), azobis isobutyronitrile (AIBN), and DEPN, which was used as a radical trap.

Topical tamoxifen therapy in hypertrophic scars or keloids in burns.

As acute burn patients have experienced increasing survival rates, the number of patients who need specific care due to aberrant scarring is also increasing. The burned skin often responds with fibrotic tissue proliferation, which can lead to a hypertrophic scar or a keloid. Non-physiologic scars are mostly not acceptable for the burn patient.