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https://www.readbyqxmd.com/read/27848941/indirect-calorimetry-an-indispensable-tool-to-understand-and-predict-obesity
#1
REVIEW
Y Y Lam, E Ravussin
Obesity is a physiological condition of chronic positive energy balance. While the regulation of energy metabolism varies widely among individuals, identifying those who are metabolically prone to weight gain and intervening accordingly is a key challenge for reversing the course of the obesity epidemic. Indirect calorimetry is the most commonly used method to measure energy expenditure in the research setting. By measuring oxygen consumption and carbon dioxide production, indirect calorimetry provides minute-by-minute energy expenditure data that makes it the most valuable tool to distinguish the various components of energy expenditure, that is, sleeping and resting metabolic rate, thermic effect of food and the energy cost of activity...
November 16, 2016: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/27759031/whole-exome-sequencing-identifies-novel-variants-in-pnpt1-causing-oxidative-phosphorylation-defects-and-severe-multisystem-disease
#2
Ahmad Alodaib, Nara Sobreira, Wendy A Gold, Lisa G Riley, Nicole J Van Bergen, Meredith J Wilson, Bruce Bennetts, David R Thorburn, Corinne Boehm, John Christodoulou
Recent advances in next-generation sequencing strategies have led to the discovery of many novel disease genes. We describe here a non-consanguineous family with two affected boys presenting with early onset of severe axonal neuropathy, optic atrophy, intellectual disability, auditory neuropathy and chronic respiratory and gut disturbances. Whole-exome sequencing (WES) was performed on all family members and we identified compound heterozygous variants (c.[760C>A];[1528G>C];p.[(Gln254Lys);(Ala510Pro)] in the polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene in both affected individuals...
October 19, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27485409/mitochondrial-hepato-encephalopathy-due-to-deficiency-of-qil1-mic13-c19orf70-a-micos-complex-subunit
#3
Avraham Zeharia, Jonathan R Friedman, Ana Tobar, Ann Saada, Osnat Konen, Yacov Fellig, Avraham Shaag, Jodi Nunnari, Orly Elpeleg
The mitochondrial inner membrane possesses distinct subdomains including cristae, which are lamellar structures invaginated into the mitochondrial matrix and contain the respiratory complexes. Generation of inner membrane domains requires the complex interplay between the respiratory complexes, mitochondrial lipids and the recently identified mitochondrial contact site and cristae organizing system (MICOS) complex. Proper organization of the mitochondrial inner membrane has recently been shown to be important for respiratory function in yeast...
August 3, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27224642/the-uk-lung-cancer-screening-trial-a-pilot-randomised-controlled-trial-of-low-dose-computed-tomography-screening-for-the-early-detection-of-lung-cancer
#4
John K Field, Stephen W Duffy, David R Baldwin, Kate E Brain, Anand Devaraj, Tim Eisen, Beverley A Green, John A Holemans, Terry Kavanagh, Keith M Kerr, Martin Ledson, Kate J Lifford, Fiona E McRonald, Arjun Nair, Richard D Page, Mahesh Kb Parmar, Robert C Rintoul, Nicholas Screaton, Nicholas J Wald, David Weller, David K Whynes, Paula R Williamson, Ghasem Yadegarfar, David M Hansell
BACKGROUND: Lung cancer kills more people than any other cancer in the UK (5-year survival < 13%). Early diagnosis can save lives. The USA-based National Lung Cancer Screening Trial reported a 20% relative reduction in lung cancer mortality and 6.7% all-cause mortality in low-dose computed tomography (LDCT)-screened subjects. OBJECTIVES: To (1) analyse LDCT lung cancer screening in a high-risk UK population, determine optimum recruitment, screening, reading and care pathway strategies; and (2) assess the psychological consequences and the health-economic implications of screening...
May 2016: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/27142348/fish-oil-and-soy-oil-based-lipid-emulsions-in-neonatal-parenteral-nutrition-a-systematic-review-and-meta-analysis
#5
P Kotiya, X Zhao, P Cheng, X Zhu, Z Xiao, J Wang
BACKGROUND/OBJECTIVES: The precise role of fish oil-based lipid emulsions (FBL=any lipid emulsion containing any amount of fish oil) and soy oil-based lipid emulsions (SBL=any lipid emulsion not containing fish oil or containing at least 50% soy oil) in neonatal parenteral nutrition (PN) needs to be explored. SUBJECTS/METHODS: The PubMed, MedLine and Google Scholar databases were searched for randomised control trials in which PN with FBL and SBL was the only difference between intervention and control groups...
May 4, 2016: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/27025352/mic-score-a-new-tool-to-compare-bacterial-susceptibility-to-antibiotics-application-to-the-comparison-of-susceptibility-to-different-penems-of-clinical-strains-of-pseudomonas-aeruginosa
#6
Cédric Bretonnière, Adeline Maitte, Jocelyne Caillon, Gilles Potel, David Boutoille, Cédric Jacqueline, Christophe Guitton
This study aimed to compare the susceptibility to carbapenems (imipenem, meropenem and doripenem) of clinical strains of Pseudomonas aeruginosa. It also studied whether susceptibility to imipenem or meropenem could predict, reliably, susceptibility to doripenem. Pseudomonal strains were collected from respiratory specimens, half of them from cystic fibrosis patients. MICs were determined according to European Committee on Antimicrobial Susceptibility Testing recommendations. Carbapenems were compared according to the susceptible, intermediate or resistant categories...
March 30, 2016: Journal of Antibiotics
https://www.readbyqxmd.com/read/26721953/the-ambition-of-the-european-respiratory-journal-chapter-4
#7
EDITORIAL
Marc Humbert, Anh Tuan Dinh-Xuan, Elin L Reeves, Matthew G Broadhead, Neil J Bullen
No abstract text is available yet for this article.
January 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/26669660/high-incidence-and-variable-clinical-outcome-of-cardiac-hypertrophy-due-to-acad9-mutations-in-childhood
#8
Marie Collet, Zahra Assouline, Damien Bonnet, Marlène Rio, Franck Iserin, Daniel Sidi, Alice Goldenberg, Caroline Lardennois, Metodi Dimitrov Metodiev, Birgit Haberberger, Tobias Haack, Arnold Munnich, Holger Prokisch, Agnès Rötig
Acyl-CoA dehydrogenase family, member 9 (ACAD9) mutation is a frequent, usually fatal cause of early-onset cardiac hypertrophy and mitochondrial respiratory chain complex I deficiency in early childhood. We retrospectively studied a series of 20 unrelated children with cardiac hypertrophy and isolated complex I deficiency and identified compound heterozygosity for missense, splice site or frame shift ACAD9 variants in 8/20 patients (40%). Age at onset ranged from neonatal period to 9 years and 5/8 died in infancy...
August 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26603877/high-respiratory-quotient-is-associated-with-increases-in-body-weight-and-fat-mass-in-young-adults
#9
R P Shook, G A Hand, A E Paluch, X Wang, R Moran, J R Hébert, J M Jakicic, S N Blair
BACKGROUND/OBJECTIVES: Metabolic disturbances, such as reduced rates of fat oxidation (high respiratory quotient (RQ)) or low energy expenditure (low resting metabolic rate (RMR)), may contribute to obesity. The objective was to determine the association between a high RQ or a low RMR and changes in body weight and body composition over 1 year. SUBJECTS/METHODS: We measured RQ and RMR in 341 adults using indirect calorimetry, along with body weight/body composition using dual-energy X-ray absorptiometery, energy expenditure using an arm-based activity monitor and energy intake using dietary recalls...
October 2016: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/26557241/the-launch-of-the-european-clinical-respiratory-journal-the-scientific-forum-of-the-nordic-respiratory-academy
#10
Leif Bjermer, Vibeke Backer, Ronald Dahl, Zuzana Diamant
No abstract text is available yet for this article.
2014: European Clinical Respiratory Journal
https://www.readbyqxmd.com/read/26486472/west-syndrome-caused-by-homozygous-variant-in-the-evolutionary-conserved-gene-encoding-the-mitochondrial-elongation-factor-guf1
#11
Ali Abdullah Alfaiz, Verena Müller, Nadia Boutry-Kryza, Dorothée Ville, Nicolas Guex, Julitta de Bellescize, Clotilde Rivier, Audrey Labalme, Vincent des Portes, Patrick Edery, Marianne Till, Ioannis Xenarios, Damien Sanlaville, Johannes M Herrmann, Gaétan Lesca, Alexandre Reymond
West syndrome (WS), defined by the triad of infantile spasms, pathognomonic hypsarrhythmia and developmental regression, is a rare epileptic disease affecting about 1:3500 live births. To get better insights on the genetic of this pathology, we exome-sequenced the members of a consanguineous family affected with isolated WS. We identified a homozygous variant (c.1825G>T/p.(Ala609Ser)) in the GUF1 gene in the three affected siblings. GUF1 encodes a protein essential in conditions that counteract faithful protein synthesis: it is able to remobilize stuck ribosomes and transiently inhibit the elongation process to optimize protein synthesis...
July 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26480281/epiplakin-is-a-paraneoplastic-pemphigus-autoantigen-and-related-to-bronchiolitis-obliterans-in-japanese-patients
#12
Atsunari Tsuchisaka, Sanae Numata, Kwesi Teye, Yohei Natsuaki, Tamihiro Kawakami, Yoshito Takeda, Wenqing Wang, Kazushi Ishikawa, Mizuki Goto, Hiroshi Koga, Ryosuke Sogame, Norito Ishii, Shinzo Takamori, Tomoaki Hoshino, Oliver Brandt, Hendri H Pas, Sakuhei Fujiwara, Takashi Hashimoto
All plakin family proteins are known to be autoantigens in paraneoplastic pemphigus (PNP). In this study, we first examined whether PNP sera also react with epiplakin, another plakin protein, by various immunological methods using 48 Japanese PNP sera. Immunofluorescence confirmed that cultured keratinocytes expressed epiplakin. Epiplakin was detected by 72.9% of PNP sera by immunoprecipitation-immunoblotting with KU-8 cell extract, but not by immunoblotting of either normal human epidermal extract or KU-8 cell extract...
October 19, 2015: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/26463725/role-of-short-term-use-of-l-acidophilus-dds-1-and-b-lactis-uabla-12-in-acute-respiratory-infections-in-children-a-randomized-controlled-trial
#13
S V Gerasimov, V A Ivantsiv, L M Bobryk, O O Tsitsura, L P Dedyshin, N V Guta, B V Yandyo
BACKGROUND/OBJECTIVES: Evidence suggests that the long-term consumption of probiotics may help in reducing the incidence of or modifying acute respiratory infection (ARI). We assessed the role of the short-term use of probiotics in ARI in children. SUBJECTS/METHODS: This was a randomized, double-blind, controlled study that enrolled 315 children with 90 dropouts. On the first day of appearance of a sick household member, otherwise healthy children of both sexes aged 3-12 years were allocated to receive Lactobacillus acidophilus DDS-1 and Bifidobacterium lactis UABLA-12 (Up4-Junior) in a dose of 5 billion colony-forming units daily with 50 mg of fructooligosaccharide (the probiotic group) or rice maltodexrin (the control group)...
April 2016: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/26081641/fatal-neonatal-encephalopathy-and-lactic-acidosis-caused-by-a-homozygous-loss-of-function-variant-in-coq9
#14
Katharina Danhauser, Diran Herebian, Tobias B Haack, Richard J Rodenburg, Tim M Strom, Thomas Meitinger, Dirk Klee, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier
Coenzyme Q10 (CoQ10) has an important role in mitochondrial energy metabolism by way of its functioning as an electron carrier in the respiratory chain. Genetic defects disrupting the endogenous biosynthesis pathway of CoQ10 may lead to severe metabolic disorders with onset in early childhood. Using exome sequencing in a child with fatal neonatal lactic acidosis and encephalopathy, we identified a homozygous loss-of-function variant in COQ9. Functional studies in patient fibroblasts showed that the absence of the COQ9 protein was concomitant with a strong reduction of COQ7, leading to a significant accumulation of the substrate of COQ7, 6-demethoxy ubiquinone10...
March 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26034060/combined-endobronchial-and-esophageal-endosonography-for-the-diagnosis-and-staging-of-lung-cancer-european-society-of-gastrointestinal-endoscopy-esge-guideline-in-cooperation-with-the-european-respiratory-society-ers-and-the-european-society-of-thoracic-surgeons
#15
Peter Vilmann, Paul Frost Clementsen, Sara Colella, Mette Siemsen, Paul De Leyn, Jean-Marc Dumonceau, Felix J Herth, Alberto Larghi, Enrique Vazquez-Sequeiros, Cesare Hassan, Laurence Crombag, Daniël A Korevaar, Lars Konge, Jouke T Annema
This is an official guideline of the European Society of Gastrointestinal Endoscopy (ESGE), produced in cooperation with the European Respiratory Society (ERS) and the European Society of Thoracic Surgeons (ESTS). It addresses the benefit and burden associated with combined endobronchial and esophageal mediastinal nodal staging of lung cancer. The Scottish Intercollegiate Guidelines Network (SIGN) approach was adopted to define the strength of recommendations and the quality of evidence.The article has been co-published with permission in Endoscopy and the European Respiratory Journal...
July 2015: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/26030890/combined-endobronchial-and-esophageal-endosonography-for-the-diagnosis-and-staging-of-lung-cancer-european-society-of-gastrointestinal-endoscopy-esge-guideline-in-cooperation-with-the-european-respiratory-society-ers-and-the-european-society-of-thoracic-surgeons
#16
Peter Vilmann, Paul Frost Clementsen, Sara Colella, Mette Siemsen, Paul De Leyn, Jean-Marc Dumonceau, Felix J Herth, Alberto Larghi, Enrique Vazquez-Sequeiros, Enrique Vasquez-Sequeiros, Cesare Hassan, Laurence Crombag, Daniël A Korevaar, Lars Konge, Jouke T Annema
This is an official guideline of the European Society of Gastrointestinal Endoscopy (ESGE), produced in cooperation with the European Respiratory Society (ERS) and the European Society of Thoracic Surgeons (ESTS). It addresses the benefit and burden associated with combined endobronchial and esophageal mediastinal nodal staging of lung cancer. The Scottish Intercollegiate Guidelines Network (SIGN) approach was adopted to define the strength of recommendations and the quality of evidence.The article has been co-published with permission in the European Journal of Cardio-Thoracic Surgery and the European Respiratory Journal...
June 2015: Endoscopy
https://www.readbyqxmd.com/read/25763797/rationale-and-design-of-the-pan-african-pulmonary-hypertension-cohort-papuco-study-implementing-a-contemporary-registry-on-pulmonary-hypertension-in-africa
#17
Friedrich Thienemann, Anastase Dzudie, Ana O Mocumbi, Lori Blauwet, Mahmoud U Sani, Kamilu M Karaye, Okechukwu S Ogah, Irina Mbanze, Amam Mbakwem, Patience Udo, Kemi Tibazarwa, Ahmed S Ibrahim, Rosie Burton, Albertino Damasceno, Simon Stewart, Karen Sliwa
INTRODUCTION: Pulmonary hypertension (PH) is a devastating, progressive disease with increasingly debilitating symptoms and usually shortened overall life expectancy due to a narrowing of the pulmonary vasculature and consecutive right heart failure. Little is known about PH in Africa, but limited reports suggest that PH is more prevalent in Africa compared with developed countries due to the high prevalence of risk factors in the region. METHODS AND ANALYSIS: A multinational multicentre registry-type cohort study was established and tailored to resource-constraint settings to describe disease presentation, disease severity and aetiologies of PH, comorbidities, diagnostic and therapeutic management, and the natural course of PH in Africa...
2014: BMJ Open
https://www.readbyqxmd.com/read/25552728/the-ambition-of-the-european-respiratory-journal-chapter-3
#18
EDITORIAL
Marc Humbert, Anh Tuan Dinh-Xuan, Elin L Reeves, Matthew G Broadhead, Neil J Bullen
No abstract text is available yet for this article.
January 2015: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/25475619/temporal-trend-geographic-distribution-and-publication-quality-in-asbestos-research
#19
Donatella Ugolini, Stefano Bonassi, Alfonso Cristaudo, Giacomo Leoncini, Giovanni Battista Ratto, Monica Neri
Asbestos is a well-known cause of cancer and respiratory diseases. The aim of the current study was to investigate the scientific production in asbestos research evaluating temporal trend, geographic distribution, impact factor (IF) of published literature, and taking into account socioeconomic variables. The PubMed database was searched starting from 1970. Publication numbers and IF were evaluated as absolute values and after standardization by population and gross domestic product (GDP). Six thousand nine hundred seven articles related to asbestos were retrieved...
May 2015: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/25334750/pulmonary-capillary-hemangiomatosis-pch-in-a-premature-infant-with-congenital-heart-disease
#20
Scott Bickel, Nemr Eid, Edward Kim, Russell Chowning, Robert Debski, Adrian O'Hagan, Ronald Morton
Pediatric Student/Resident Case Report PostersSESSION TYPE: Medical Student/Resident Case ReportPRESENTED ON: Tuesday, October 28, 2014 at 01:30 PM - 02:30 PMINTRODUCTION: Pulmonary capillary hemangiomatosis (PCH) is a rare entity characterized by the diffuse proliferation of capillaries throughout the pulmonary interstitium, bronchioles, and vascular structures. We report on a premature neonate with complex heart disease with persistent radiographic features at several days of life which was ultimately determined to be PCH...
October 1, 2014: Chest
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