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https://www.readbyqxmd.com/read/28429146/clinical-validity-of-biochemical-and-molecular-analysis-in-diagnosing-leigh-syndrome-a-study-of-106-japanese-patients
#1
Erika Ogawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Mika Ishige, Tatsuo Fuchigami, Taro Yamazaki, Masato Mori, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Shori Takahashi, Akira Ohtake, Kei Murayama
Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early childhood. It is clinically diagnosed by typical manifestations and characteristic computed tomography (CT) or magnetic resonance imaging (MRI) studies. Unravelling mitochondrial respiratory chain (MRC) dysfunction behind LS is essential for deeper understanding of the disease, which may lead to the development of new therapies and cure. The aim of this study was to evaluate the clinical validity of various diagnostic tools in confirming MRC disorder in LS and Leigh-like syndrome (LL)...
April 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28428045/sco2-deficient-mice-develop-increased-adiposity-and-insulin-resistance
#2
Shauna Hill, Sathyaseelan S Deepa, Kavithalakshmi Sataranatarajan, Pavithra Premkumar, Daniel Pulliam, Yuhong Liu, Vanessa Y Soto, Kathleen E Fischer, Holly Van Remmen
Cytochrome c oxidase (COX) is an essential transmembrane protein complex (Complex IV) in the mitochondrial respiratory electron chain. Mutations in genes responsible for the assembly of COX are associated with Leigh syndrome, cardiomyopathy, spinal muscular atrophy and other fatal metabolic disorders in humans. Previous studies have shown that mice lacking the COX assembly protein Surf1 (Surf1(-/-) mice) paradoxically show a number of beneficial metabolic phenotypes including increased insulin sensitivity, upregulation of mitochondrial biogenesis, induction of stress response pathways and increased lifespan...
April 17, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28426759/health-related-quality-of-life-in-south-african-patients-with-pulmonary-tuberculosis
#3
Tanja Kastien-Hilka, Bernd Rosenkranz, Edina Sinanovic, Bryan Bennett, Matthias Schwenkglenks
BACKGROUND: The evaluation of patient-reported health-related quality of life (HRQOL) in pulmonary tuberculosis (TB) contributes to a comprehensive understanding of the burden associated with this disease. The aim of this study was to assess the overall impact of TB on the health status and on single health domains identified in the WHO definition of health, including physical, mental and social health aspects. METHODS: Four instruments for HRQOL evaluation were applied in a longitudinal multicentre study during six-month standard TB treatment in South Africa...
2017: PloS One
https://www.readbyqxmd.com/read/28425826/lung-function-and-prevalence-of-respiratory-symptoms-in-norwegian-crab-processing-workers
#4
Marte R Thomassen, Lisbeth Aasmoe, Berit E Bang, Tonje Braaten
BACKGROUND: Seafood processing workers have an increased risk of developing occupational asthma. This has not been studied among Norwegian crab processing workers, nor has the respiratory health of exposed workers been compared to a control group. OBJECTIVES: Assessing the impact of working in the crab processing industry on workers' respiratory health. DESIGN: A cross-sectional study of the respiratory health in two types of crab processing workers compared to a control group...
2017: International Journal of Circumpolar Health
https://www.readbyqxmd.com/read/28424233/cluh-couples-mitochondrial-distribution-to-the-energetic-and-metabolic-status
#5
Jamal Wakim, David Goudenege, Rodolphe Perrot, Naig Gueguen, Valerie Desquiret-Dumas, Juan Manuel Chao de la Barca, Ilaria Dalla Rosa, Florence Manero, Morgane Le Mao, Stephanie Chupin, Arnaud Chevrollier, Vincent Procaccio, Dominique Bonneau, David C Logan, Pascal Reynier, Guy Lenaers, Salim Khiati
Mitochondrial dynamics and distribution are critical in supplying ATP in response to energy demand. CLUH is a protein involved in mitochondrial distribution, whose dysfunction leads to mitochondrial clustering, the metabolic consequences of which remain unknown. To gain insight into the role of CLUH on mitochondrial energy production and cellular metabolism, we have generated CLUH knockout cells using CRISPR/Cas9. Mitochondrial clustering was associated with a smaller cell size, and with decreased abundance of respiratory complexes, resulting in OXPHOS defects...
April 19, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28421170/porcine-reproductive-and-respiratory-syndrome-virus-infection-induces-stress-granule-formation-depending-on-protein-kinase-r-like-endoplasmic-reticulum-kinase-perk-in-marc-145-cells
#6
Yanrong Zhou, Liurong Fang, Dang Wang, Kaimei Cai, Huanchun Chen, Shaobo Xiao
Stress granules (SGs) are sites of mRNA storage that are formed in response to various conditions of stress, including viral infections. Porcine reproductive and respiratory syndrome virus (PRRSV) is an Arterivirus that has been devastating the swine industry worldwide since the late 1980s. In this study, we found that infection of PRRSV strain WUH3 (genotype 2 PRRSV) induced stable formation of robust SGs in MARC-145 cells, as demonstrated by the recruitment of marker proteins of SGs, including TIA1, G3BP1, and eIF3η...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28421043/outlining-core-pathways-of-amyloid-toxicity-in-bacteria-with-the-repa-wh1-prionoid
#7
Laura Molina-García, María Moreno-Del Álamo, Pedro Botias, Zaira Martín-Moldes, María Fernández, Alicia Sánchez-Gorostiaga, Aída Alonso-Del Valle, Juan Nogales, Jesús García-Cantalejo, Rafael Giraldo
The synthetic bacterial prionoid RepA-WH1 causes a vertically transmissible amyloid proteinopathy in Escherichia coli that inhibits growth and eventually kills the cells. Recent in vitro studies show that RepA-WH1 builds pores through model lipid membranes, suggesting a possible mechanism for bacterial cell death. By comparing acutely (A31V) and mildly (ΔN37) cytotoxic mutant variants of the protein, we report here that RepA-WH1(A31V) expression decreases the intracellular osmotic pressure and compromise bacterial viability under either aerobic or anaerobic conditions...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28420916/the-effect-of-bariatric-anaesthesia-on-postoperative-pulmonary-functions
#8
Ozcan Piskin, Bulent Altinsoy, Murat Cimencan, Bengu Gulhan Aydin, Dilek Okyay, Gamze Kucukosman, Oge Tascilar, Selda Sarikaya, Hilal Ayoglu
OBJECTIVE: To evaluate respiratory function in the post-operative early period of patients undergoing bariatric surgery using the sleeve gastrectomy technique. METHODS: This prospective, observational study was conducted at Bülent Ecevit University Health Application and Research Centre, Zonguldak, Turkey from June to December 2014, and comprised patients with planned bariatric sleeve gastrectomy under general anaesthesia. Participants were visited 12-24 hours before the operation to record accompanying diseases and demographic data...
April 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28419872/stimulation-of-the-brain-serotonin-receptor-7-rescues-mitochondrial-dysfunction-in-female-mice-from-two-models-of-rett-syndrome
#9
Daniela Valenti, Lidia de Bari, Daniele Vigli, Enza Lacivita, Marcello Leopoldo, Giovanni Laviola, Rosa Anna Vacca, Bianca De Filippis
Rett syndrome (RTT) is a rare neurodevelopmental disorder, characterized by severe behavioral and physiological symptoms. Mutations in the methyl CpG binding protein 2 gene (MECP2) cause more than 95% of classic cases, and currently there is no cure for this devastating disorder. Recently we have demonstrated that neurobehavioral and brain molecular alterations can be rescued in a RTT mouse model, by pharmacological stimulation of the brain serotonin receptor 7 (5-HT7R). This member of the serotonin receptor family, crucially involved in the regulation of brain structural plasticity and cognitive processes, can be stimulated by systemic repeated treatment with LP-211, a brain-penetrant selective agonist...
April 15, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28419775/next-generation-sequencing-mitochondrial-dna-analysis-in-autism-spectrum-disorder
#10
Ashok Patowary, Ryan Nesbitt, Marilyn Archer, Raphael Bernier, Zoran Brkanac
Autism is a complex genetic disorder where both de-novo and inherited genetics factors play a role. Next generation sequencing approaches have been extensively used to identify rare variants associated with autism. To date, all such studies were focused on nuclear genome; thereby leaving the role of mitochondrial DNA (mtDNA) variation in autism unexplored. Recently, analytical tools have been developed to evaluate mtDNA in whole-exome data. We have analyzed the mtDNA sequence derived from whole-exome sequencing in 10 multiplex families...
April 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28419384/risk-factors-for-serious-prescription-opioid-induced-respiratory-depression-or-overdose-comparison-of-commercially-insured-and-veterans-health-affairs-populations
#11
Pramit A Nadpara, Andrew R Joyce, E Lenn Murrelle, Nathan W Carroll, Norman V Carroll, Marie Barnard, Barbara K Zedler
Objective. : To characterize the risk factors associated with overdose or serious opioid-induced respiratory depression (OIRD) among medical users of prescription opioids in a commercially insured population (CIP) and to compare risk factor profiles between the CIP and Veterans Health Administration (VHA) population. Subjects and Methods. : Analysis of data from 18,365,497 patients in the IMS PharMetrics Plus health plan claims database (CIP) who were dispensed a prescription opioid in 2009 to 2013...
April 13, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28418073/evolved-changes-in-the-intracellular-distribution-and-physiology-of-muscle-mitochondria-in-high-altitude-native-deer-mice
#12
Sajeni Mahalingam, Grant B McClelland, Graham R Scott
High-altitude natives that have evolved to live in hypoxic environments provide a compelling system to understand how animals can overcome impairments in oxygen availability. We examined whether these include changes in mitochondrial physiology or intracellular distribution that contribute to hypoxia resistance in high-altitude deer mice (Peromyscus maniculatus). Mice from populations native to high- and low-altitudes were born and raised in captivity, and as adults were acclimated to normoxia or hypobaric hypoxia (equivalent to 4,300 m elevation)...
April 18, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28416430/-extracorporeal-membrane-oxygenation-in-critically-ill-neonates-and-children
#13
J Rambaud, J Guilbert, I Guellec, S Jean, A Durandy, M Demoulin, A Amblard, R Carbajal, P-L Leger
Extracorporeal membrane oxygenation is used as a last resort during neonatal and pediatric resuscitation in case of refractory circulatory or respiratory failure under maximum conventional therapies. Different types of ECMO can be used depending on the initial failure. The main indications for ECMO are refractory respiratory failure (acute respiratory distress syndrome, status asthmaticus, severe pneumonia, meconium aspiration syndrome, pulmonary hypertension) and refractory circulatory failure (cardiogenic shock, septic shock, refractory cardiac arrest)...
April 14, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28416348/respiratory-function-in-facioscapulohumeral-muscular-dystrophy-1
#14
M Wohlgemuth, C G C Horlings, E L van der Kooi, H J Gilhuis, J C M Hendriks, S M van der Maarel, B G M van Engelen, Y F Heijdra, G W Padberg
To test the hypothesis that wheelchair dependency and (kypho-)scoliosis are risk factors for developing respiratory insufficiency in facioscapulohumeral muscular dystrophy, we examined 81 patients with facioscapulohumeral muscular dystrophy 1 of varying degrees of severity ranging from ambulatory patients to wheelchair-bound patients. We examined the patients neurologically and by conducting pulmonary function tests: Forced Vital Capacity, Forced Expiratory Volume in 1 second, and static maximal inspiratory and expiratory mouth pressures...
March 22, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28414167/inhibition-of-the-mitochondrial-respiratory-chain-in-gills-of-rhamdia-quelen-experimentally-infected-by-pseudomonas-aeruginosa-interplay-with-reactive-oxygen-species
#15
Matheus D Baldissera, Carine F Souza, Mateus Grings, Belisa S Parmeggiani, Guilhian Leipnitz, Karen L S Moreira, Maria Izabel U M da Rocha, Marcelo L da Veiga, Roberto C V Santos, Lenita M Stefani, Bernardo Baldisserotto
It has long been recognized that there are several infectious diseases linked to the impairment of enzymatic complexes of the mitochondrial respiratory chain, with consequent production of reactive oxygen species (ROS), that contribute to disease pathogenesis. In this study, we determined whether the inhibition on mitochondrial respiratory chain might be considered a pathway involved in the production of ROS in gills of Rhamdia quelen experimentally infected by P. aeruginosa. The animals were divided into two groups with six fish each: uninfected (the negative control group) and infected (the positive control group)...
April 13, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/28413833/beneficial-effects-of-a-pyrroloquinolinequinone-containing-dietary-formulation-on-motor-deficiency-cognitive-decline-and-mitochondrial-dysfunction-in-a-mouse-model-of-alzheimer-s-disease
#16
Darrell Sawmiller, Song Li, Takashi Mori, Ahsan Habib, David Rongo, Vedad Delic, Patrick C Bradshaw, R Douglas Shytle, Cyndy Sanberg, Paula Bickford, Jun Tan
Alzheimer's disease (AD), a progressive neurodegenerative disorder, is linked to oxidative stress, altered amyloid precursor protein (APP) proteolysis, tau hyperphosphorylation and the accumulation of amyloid-β (Aβ) plaques and neurofibrillary tangles (NFT). A growing body of evidence suggests that mitochondrial dysfunction can be a key promoter of all of these pathologies and predicts that restoration of mitochondrial function might be a potential therapeutic strategy for AD. Therefore, in the present study, we tested the beneficial effect of a nutraceutical formulation Nutrastem II (Nutra II), containing NT020 (a mitochondrial restorative and antioxidant proprietary formulation) and pyrroloquinolinequinone (PQQ, a stimulator of mitochondria biogenesis) in 5XFAD transgenic mice...
April 2017: Heliyon
https://www.readbyqxmd.com/read/28413169/respiratory-effects-of-simultaneous-exposure-to-respirable-crystalline-silica-dust-formaldehyde-and-triethylamine-of-a-group-of-foundry-workers
#17
Fatemeh Zarei, Mansour Rezazadeh Azari, Sousan Salehpour, Soheila Khodakarim, Leila Omidi, Elahe Tavakol
BACKGROUND: Foundry workers are occupationally exposed to hazardous substances such as silica dusts and toxic gases. The aim of this study was to examine the effects of simultaneous exposure to complex mixtures of silica dust, formaldehyde, and triethylamine on lung function parameters. STUDY DESIGN: A cross-sectional study. METHODS: This study was conducted on 55 male workers of core making unit of a foundry plant (the case group) and 55 workers in a food industry were enrolled as a control group in 2015...
March 4, 2017: Journal of Research in Health Sciences
https://www.readbyqxmd.com/read/28412374/a-novel-mitochondrial-atp6-frameshift-mutation-causing-isolated-complex-v-deficiency-ataxia-and-encephalomyopathy
#18
Christopher Benjamin Jackson, Dagmar Hahn, Barbara Schröter, Uwe Richter, Brendan Battersby, Thomas Schmitt-Mechelke, Paula Martinen, Jean-Marc Nuoffer, André Schaller
We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability. A heteroplasmic frameshift mutation in the MT-ATP6 gene was confirmed in the patient's skeletal muscle and blood. The mutation was not detectable in the mother's DNA extracted from blood or buccal cells. Enzymatic and oxymetric analysis of the mitochondrial respiratory system in the patients' skeletal muscle and skin fibroblasts demonstrated an isolated complex V deficiency...
April 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28412164/diagnosis-and-management-of-oropharyngeal-dysphagia-among-older-persons-state-of-the-art
#19
REVIEW
Omar Ortega, Alberto Martín, Pere Clavé
Oropharyngeal dysphagia (OD) is a condition recognized by the World Health Organization and defined as the difficulty or inability to move a bolus safely and effectively from the oral cavity to the esophagus, and can include aspirations, choking, and residue. OD is pandemic among different phenotypes of older people, affecting between 27% and 91% of the population 70 years or older. Although OD can be diagnosed by well-defined clinical methods and complementary explorations, in the clinical setting OD is seldom systematically screened and treated, and awareness among the medical/geriatric community is scarce...
April 12, 2017: Journal of the American Medical Directors Association
https://www.readbyqxmd.com/read/28410842/evidence-of-impaired-microvascular-dilatation-in-preterms-with-acute-respiratory-distress-syndrome
#20
Stefania Troiani, Andrea Cardona, Maddalena Milioni, Debora Monacelli, Alberto Verrotti, Marta Gehring, Giuseppe Ambrosio
BACKGROUND: Evaluating microcirculatory function in severely ill neonates is a relevant, unmet clinical need. Inappropriate peripheral microvascular vasodilatation is thought to contribute to cardiovascular alterations in preterm infants with acute respiratory distress syndrome (ARDS). We directly evaluated microcirculatory function in preterms with ARDS. METHODS: Peripheral microvascular function was assessed in 50 newborns, divided in three groups: preterms with ARDS; at-term newborns with mild-moderate congenital cardiac disease (Cardio group); healthy controls...
April 6, 2017: International Journal of Cardiology
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