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https://www.readbyqxmd.com/read/28295039/deciphering-the-mechanism-of-q145h-sftpc-mutation-unmasks-a-splicing-defect-and-explains-the-severity-of-the-phenotype
#1
Céline Delestrain, Stéphanie Simon, Abdel Aissat, Rachel Medina, Xavier Decrouy, Elodie Nattes, Agathe Tarze, Bruno Costes, Pascale Fanen, Ralph Epaud
Mutations in the gene encoding surfactant protein C (SFTPC) have led to a broad range of phenotypes from neonatal respiratory distress syndrome to adult interstitial lung disease. We previously identified the c.435G>C variant in the SFTPC gene associated with fatal neonatal respiratory distress syndrome in an infant girl. Although this variation is predicted to change glutamine (Q) at position 145 to histidine (H), its position at the last base of exon 4 and the severity of the phenotype suggested that it might also induce a splicing defect...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28295037/a-mutation-in-the-tmem65-gene-results-in-mitochondrial-myopathy-with-severe-neurological-manifestations
#2
Aisha Nazli, Adeel Safdar, Ayesha Saleem, Mahmood Akhtar, Lauren I Brady, Jeremy Schwartzentruber, Mark A Tarnopolsky
Recent research has suggested that transmembrane protein 65 (TMEM65) is localized within the inner mitochondrial membrane. Little else is known about its function. In this study we investigated the location and function of TMEM65. Further, we report the functional consequences of a novel homozygous splice variant (c.472+1G>A) in the TMEM65 gene in a patient with mitochondrial encephalomyopathy. Here we investigated the location of TMEM65 by immunofluorescence staining of the protein and by immunoblotting of the isolated mitochondrial fractions in healthy fibroblasts and those from the patient...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28295036/a-novel-recessive-ttn-founder-variant-is-a-common-cause-of-distal-myopathy-in-the-serbian-population
#3
Stojan Perić, Jelena Nikodinović Glumac, Ana Töpf, Dušanka Savić-Pavićević, Lauren Phillips, Katherine Johnson, Marcus Cassop-Thompson, Liwen Xu, Marta Bertoli, Monkol Lek, Daniel MacArthur, Miloš Brkušanin, Sanja Milenković, Vedrana Milić Rašić, Bojan Banko, Ružica Maksimović, Hanns Lochmüller, Vidosava Rakočević Stojanović, Volker Straub
Variants in the TTN gene have been associated with distal myopathies and other distinctive phenotypes involving skeletal and cardiac muscle. Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry. All patients share a common 1 Mb core haplotype associated with c.107635C>T, suggesting a founder variant. In compound heterozygotes, nine other TTN variants were identified: four stop-gain, three frameshift, one missense and one splice donor variant...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28291621/a-comparison-of-research-into-cachexia-wasting-and-related-skeletal-muscle-syndromes-in-three-chronic-disease-areas
#4
Andrew J Stewart Coats, Louise G Shewan
INTRODUCTION: We compared the frequency of cancer, heart and lung related cachexia and cachexia-related research articles in the specialist journal, Journal of Cachexia, Sarcopenia and Muscle (JCSM) to those seen in a leading European journal in each specialist area during 2015 and 2016 to assess whether work on cachexia and related fields is relatively over or under represented in each specialist area. RESULTS: In the dedicated journal, Journal of Cachexia, Sarcopenia and Muscle, there were 44 references related to cancer, 5 related to respiratory disease, 5 related to heart failure, and 21 related to more than one of these chronic diseases...
March 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28145418/chronic-dietary-exposure-to-branched-chain-amino-acids-impairs-glucose-disposal-in-vegans-but-not-in-omnivores
#5
J Gojda, L Rossmeislová, R Straková, J Tůmová, M Elkalaf, M Jaček, P Tůma, J Potočková, E Krauzová, P Waldauf, J Trnka, V Štich, M Anděl
BACKGROUND/OBJECTIVES: Branched chain amino acids (BCAA) are among nutrients strongly linked with insulin sensitivity (IS) measures. We investigated the effects of a chronic increase of BCAA intake on IS in two groups of healthy subjects differing in their basal consumption of BCAA, that is, vegans and omnivores. SUBJECTS/METHODS: Eight vegans and eight matched omnivores (five men and three women in each group) received 15 g (women) or 20 g (men) of BCAA daily for 3 months...
February 1, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28138135/body-mass-index-as-a-predictor-of-healthy-and-disease-free-life-expectancy-between-ages-50-and-75-a-multicohort-study
#6
S Stenholm, J Head, V Aalto, M Kivimäki, I Kawachi, M Zins, M Goldberg, L G Platts, P Zaninotto, L L M Hanson, H Westerlund, J Vahtera
BACKGROUND: While many studies have shown associations between obesity and increased risk of morbidity and mortality, little comparable information is available on how body mass index (BMI) impacts health expectancy. We examined associations of BMI with healthy and chronic disease-free life expectancy in four European cohort studies. METHODS: Data were drawn from repeated waves of cohort studies in England, Finland, France and Sweden. BMI was categorized into four groups from normal weight (18...
January 31, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28102546/ataluren-and-similar-compounds-specific-therapies-for-premature-termination-codon-class-i-mutations-for-cystic-fibrosis
#7
REVIEW
Aisha A Aslam, Colin Higgins, Ian P Sinha, Kevin W Southern
BACKGROUND: Cystic fibrosis is a common life-shortening genetic disorder in the Caucasian population (less common in other ethnic groups) caused by the mutation of a single gene that codes for the production of the cystic fibrosis transmembrane conductance regulator protein. This protein coordinates the transport of salt (and bicarbonate) across cell surfaces and the mutation most notably affects the airways. In the lungs of people with cystic fibrosis, defective protein results in a dehydrated surface liquid and compromised mucociliary clearance...
January 19, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28074891/intake-of-vitamin-c-vitamin-e-selenium-zinc-and-polyunsaturated-fatty-acids-and-upper-respiratory-tract-infection-a-prospective-cohort-study
#8
S E Raposo, E Fondell, P Ström, O Bälter, S E Bonn, O Nyrén, A Plymoth, K Bälter
BACKGROUND/OBJECTIVES: Antioxidants and polyunsaturated fatty acids (PUFAs) have a role in the human immune defense and may affect the susceptibility to upper respiratory tract infection (URTI). To examine dietary intake of vitamin C, vitamin E, selenium, zinc and PUFAs in relation to URTI incidence in a prospective cohort study. SUBJECTS/METHODS: A total of 1533 Swedish women and men aged 25-64 years were followed for nine months during 2011-2012. Information on dietary intake was assessed through a web-based food frequency questionnaire, and events of URTI were self-reported prospectively as they occurred...
January 11, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28049182/the-ambition-of-the-european-respiratory-journal-continues-chapter-5
#9
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 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27966575/clinical-impact-of-vitamin-d-treatment-in-cystic-fibrosis-a-pilot-randomized-controlled-trial
#10
T Pincikova, D Paquin-Proulx, J K Sandberg, M Flodström-Tullberg, L Hjelte
BACKGROUND/OBJECTIVES: Vitamin D insufficiency in cystic fibrosis is common. Vitamin D3 is currently preferred over D2. We aimed to study the efficacy of vitamin D2 and D3 at increasing serum 25-hydroxyvitamin D (s25OHD) concentrations and their effect on respiratory health in cystic fibrosis. SUBJECTS/METHODS: Sixteen CF patients were randomized to receive vitamin D2 or D3 or to serve as controls. The starting dose of 5000 IU (<16 years old) or 7143 IU/day (⩾16 years old) was further individually adjusted...
February 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/27848941/indirect-calorimetry-an-indispensable-tool-to-understand-and-predict-obesity
#11
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
#12
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...
January 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
#13
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...
December 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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
Leif Bjermer, Vibeke Backer, Ronald Dahl, Zuzana Diamant
No abstract text is available yet for this article.
2014: European Clinical Respiratory Journal
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