Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.

Dysfunction of some mitochondrial aminoacyl-tRNA synthetases (encoded by the , , and genes) results in a great variety of phenotypes ranging from non-syndromic hearing impairment (NSHI) to very complex syndromes, with a predominance of neurological signs. The diversity of roles that are played by these moonlighting enzymes and the fact that most pathogenic variants are missense and affect different domains of these proteins in diverse compound heterozygous combinations make it difficult to establish genotype-phenotype correlations. We used a targeted gene-sequencing panel to investigate the presence of pathogenic variants in those four genes in cohorts of 175 Spanish and 18 Colombian familial cases with non-DFNB1 autosomal recessive NSHI.

Aqueous-phase product treatment and monetization options of wet waste hydrothermal liquefaction: Comprehensive techno-economic and life-cycle GHG emission assessment unveiling research opportunities.

While wet waste hydrothermal liquefaction technology has a high biofuel yield, a significant amount of the carbon and nitrogen in the feedstock reports to the aqueous-phase product. Pretreatment of this stream before sending to a conventional wastewater plant is essential or at the very least, advisable. In this work, techno-economic and life-cycle assessments were conducted for the state-of-technology baseline and four aqueous-phase product treatment and monetization options based on experimental data.

Decarbonization of Agriculture: The Greenhouse Gas Impacts and Economics of Existing and Emerging Climate-Smart Practices.

The worldwide emphasis on reducing greenhouse gas (GHG) emissions has increased focus on the potential to mitigate emissions through climate-smart agricultural practices, including regenerative, digital, and controlled environment farming systems. The effectiveness of these solutions largely depends on their ability to address environmental concerns, generate economic returns, and meet supply chain needs. In this Review, we summarize the state of knowledge on the GHG impacts and profitability of these three existing and emerging farming systems.

On-Line Raman Measurement of the Radiation-Enhanced Reaction of Cellobiose with Hydrogen Peroxide.

Production of a chemical feedstock as a secondary product from a commercial nuclear reactor can increase the economic viability of the reactor and enable the deployment of nuclear energy as part of the low-carbon energy grid. Currently, commercial nuclear reactors produce underutilized energy in the form of neutrons and gamma photons. This excess energy can be exploited to drive chemical reactions, increasing the fraction of utilized energy in reactors and providing a valuable secondary product from the reactor.

The CYTOLD and ERTOLD pathways for lipid droplet-protein targeting.

Lipid droplets (LDs) are the main organelles for lipid storage, and their surfaces contain unique proteins with diverse functions, including those that facilitate the deposition and mobilization of LD lipids. Among organelles, LDs have an unusual structure with an organic, hydrophobic oil phase covered by a phospholipid monolayer. The unique properties of LD monolayer surfaces require proteins to localize to LDs by distinct mechanisms.

Determinants of Endoplasmic Reticulum-to-Lipid Droplet Protein Targeting.

Lipid droplet (LD) formation from the endoplasmic reticulum (ER) is accompanied by the targeting and accumulation of specific hydrophobic, membrane-embedded proteins on LDs. The determinants of this process are unknown. Here, we study the hydrophobic membrane motifs of two Drosophila melanogaster proteins, GPAT4 and ALG14, that utilize this pathway, and we identify crucial sequence features that mediate LD accumulation.

Corrigendum: Observational Studies in Male Elite Football: A Systematic Mixed Study Review.

[This corrects the article DOI: 10.3389/fpsyg.2019.

Observational Studies in Male Elite Football: A Systematic Mixed Study Review.

This systematic mixed study review, focuses on the use of observation methodology in elite men's football matches, which constitutes an innovative approach, that opens up a new panorama of useful and productive research. The methods used in this study follow the recommendations for systematic reviews and meta-analysis guidelines (PRISMA). The search was carried out in five databases.

Detection of hearing loss in newborns: Definition of a screening strategy in Bogotá, Colombia.

Objective: To describe the results from the hearing screening protocol adopted in a Hospital in Colombia emphasizing the importance of performing screening on an outpatient basis, when the newborn is more than 24 h old.

Methods: A prospective study at Hospital Universitario San Ignacio in Bogota, Colombia was carried out, from May 1st, 2016 to Nov 30, 2017, the study sample included 2.088 newborns examined using transient otoacoustic emissions.

Seipin is required for converting nascent to mature lipid droplets.

How proteins control the biogenesis of cellular lipid droplets (LDs) is poorly understood. Using and human cells, we show here that seipin, an ER protein implicated in LD biology, mediates a discrete step in LD formation-the conversion of small, nascent LDs to larger, mature LDs. Seipin forms discrete and dynamic foci in the ER that interact with nascent LDs to enable their growth.

Arf1/COPI machinery acts directly on lipid droplets and enables their connection to the ER for protein targeting.

Lipid droplets (LDs) are ubiquitous organelles that store neutral lipids, such as triacylglycerol (TG), as reservoirs of metabolic energy and membrane precursors. The Arf1/COPI protein machinery, known for its role in vesicle trafficking, regulates LD morphology, targeting of specific proteins to LDs and lipolysis through unclear mechanisms. Recent evidence shows that Arf1/COPI can bud nano-LDs (∼60 nm diameter) from phospholipid-covered oil/water interfaces in vitro.

Today's trends in capital financing.

A health system's approach to capital access in the coming year should include an in-depth analysis of different financing options, including: Tax-exempt fixed rate bonds. Tax-exempt variable rate bonds. Taxable bonds.

Acid-catalyzed conversion of sugars and furfurals in an ionic-liquid phase.

The reactivity of monosaccharides, furfural, and 5-hydroxymethyl-2-furfural (HMF) in the presence of a Brønsted acid (added as H(2)SO(4)) in the ionic liquid 1-butyl-3-methylimidazolium chloride (BMImCl) is investigated at 120 °C. Fructose is converted much faster than mannose, glucose, and xylose and yields HMF with high selectivity, even in the absence of acid. Conversion of mannose, glucose, and xylose involves more complex reaction networks.

Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program.

Objective: We conducted a pilot screening program to define the prevalence of non-syndromic deafness and establish the frequency of mutations in the GJB2 gene (Cx26) in a population of children with congenital deafness in Bogotá, Colombia.

Method: From a cohort of 731 children in 8 institutions for the deaf, we identified 322 (44%) with presumed non-syndromic deafness. These were invited to a more detailed evaluation, but 46 chose not to participate.

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.

Autosomal recessive nonsyndromic hearing impairment (NSHI) is a heterogeneous condition, for which 53 genetic loci have been reported, and 29 genes have been identified to date. One of these, OTOF, encodes otoferlin, a membrane-anchored calcium-binding protein that plays a role in the exocytosis of synaptic vesicles at the auditory inner hair cell ribbon synapse. We have investigated the prevalence and spectrum of deafness-causing mutations in the OTOF gene.

Chronic myelopathy due to a giant spinal arachnoid cyst: a complication of the intrathecal injection of phenol. Case report.

Acquired intradural arachnoid cystic lesions of the spine have been associated with trauma, hemorrhage, parasitic infections, and other insults that cause inflammation and subarachnoid adhesions. The authors describe the case of a previously healthy 36-year-old woman who presented with a chronic myelopathy due to the progressive development of a giant spinal arachnoid cyst that resulted after the intrathecal injection of phenol for the management of chronic upper extremity pain. Neurological examination, spinal computed tomography, and magnetic resonance imaging were used for diagnostic and follow-up purposes.

Feeling bad in more ways than one: comorbidity patterns of medically unexplained and psychiatric conditions.

Background: Considerable overlap in symptoms and disease comorbidity has been noted among medically unexplained and psychiatric conditions seen in the primary care setting, such as chronic fatigue syndrome, low back pain, irritable bowel syndrome, chronic tension headache, fibromyalgia, temporomandibular joint disorder, major depression, panic attacks, and posttraumatic stress disorder.

Objective: To examine interrelationships among these 9 conditions.

Design: Using data from a cross-sectional survey, we described associations and used latent class analysis to investigate complex interrelationships.

AKT1 and neurocognition in schizophrenia.

Objective: Previous research has shown conflicting results for the significance of five v-akt murine thymoma viral oncogene homolog 1 (AKT1) single-nucleotide polymorphisms (SNPs) to the aetiology of schizophrenia. Neurocognition is a plausible endophenotype for schizophrenia and it was reasoned that the lack of agreement might be due to variability in neurocognition across studies. Therefore, the association of genetic variation in AKT1 with neurocognition was investigated in patients with schizophrenia.

Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.

Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non-syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A-->G is the most prevalent in all populations tested so far. Recently, the 1494C-->T mutation was reported in two large Chinese pedigrees with maternally inherited NSHL.

The prevalence of self-reported chronic fatigue in a U.S. twin registry.

Objective: To investigate the prevalence and correlates of various definitions of self-reported lifetime fatiguing illness in a U.S. twin registry.

Gene expression profiling in chronic inflammatory demyelinating polyneuropathy.

Gene expression in archived frozen sural nerve biopsies of patients with chronic inflammatory demyelinating polyneuropathy (CIDP) was compared to that in vasculitic nerve biopsies (VAS) and to normal nerve (NN) by DNA microarray technology. Hierarchical clustering analysis demonstrated distinct gene expression patterns distinguishing these disease groups. Of particular interest were: (1) Tachykinin precursor 1, which may be involved in pain mediation; (2) Stearoyl-CoA-desaturase, which may be a marker for remyelination and (3) the Allograft Inflammatory Factor 1 (AIF-1), a modulator of immune response during macrophage activation.

[Matrix analysis of the client's voice: QFD applied to healthcare management].

Objective: To apply quality function deployment (QFD) methodology to identify clients' needs by relating complaints with perceived quality domains.

Setting: A hospital within the Public Health Service of Madrid.

Methods: Matrix analysis based on the QFD model was performed, using the surveys (1998-2002) conducted in the hospital with the Servqhos questionnaire and a sample of 363 complaints made in 2002.

Progesterone receptors: their localization, binding activity and expression in the pig oviduct during follicular and luteal phases.

Estrogens (E) and progesterone (P) are known to require their respective steroid receptors in order to exert structural and functional effects on the oviduct. Cyclic changes in progesterone receptor (PR) localization in the oviductal tissue of female pigs were determined using an immunohistochemical technique with mouse monoclonal antibody mPRI against PR. The variations observed during the estrous cycle in the progesterone receptor (PR) intensity and proportion between ampulla and isthmus probably reflect different response of these regions to progesterone.

Genotyping accuracy for whole-genome amplification of DNA from buccal epithelial cells.

We compared the accuracy of genotyping for DNA extracted from lymphocytes to that of DNA amplified from buccal epithelial cells. Amplification was via a rolling circle/phi29 DNA polymerase commercial kit. Paired buccal and lymphocyte DNA samples were available from 30 individuals.