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https://www.readbyqxmd.com/read/28427458/whole-exome-sequencing-identifies-novel-candidate-predisposition-genes-for-familial-polycythemia-vera
#1
Elina A M Hirvonen, Esa Pitkänen, Kari Hemminki, Lauri A Aaltonen, Outi Kilpivaara
BACKGROUND: Polycythemia vera (PV), characterized by massive production of erythrocytes, is one of the myeloproliferative neoplasms. Most patients carry a somatic gain-of-function mutation in JAK2, c.1849G > T (p.Val617Phe), leading to constitutive activation of JAK-STAT signaling pathway. Familial clustering is also observed occasionally, but high-penetrance predisposition genes to PV have remained unidentified. RESULTS: We studied the predisposition to PV by exome sequencing (three cases) in a Finnish PV family with four patients...
April 20, 2017: Human Genomics
https://www.readbyqxmd.com/read/28423164/triple-aim-in-canada-developing-capacity-to-lead-to-better-health-care-and-cost
#2
Elina Farmanova, Christine Kirvan, Jennifer Verma, Geetha Mukerji, Nurdin Akunov, Kaye Phillips, Stephen Samis
Quality problem: Many modern health systems strive for 'Triple Aim' (TA)-better health for populations, improved experience of care for patients and lower costs of the system, but note challenges in implementation. Outcomes of applying TA as a quality improvement framework (QI) have started to be realized with early lessons as to why some systems make progress while others do not. Initial assessment: Limited evidence is available as to how organizations create the capacity and infrastructure required to design, implement, evaluate and sustain TA systems...
December 1, 2016: International Journal for Quality in Health Care
https://www.readbyqxmd.com/read/28420008/c-reactive-protein-and-cold-pressor-tolerance-in-the-general-population-the-troms%C3%A3-study
#3
Elina Iordanova Schistad, Audun Stubhaug, Anne-Sofie Furberg, Bo Lars Engdahl, Christopher Sivert Nielsen
The aim of this study was to examine whether increases in severity of subclinical inflammation, measured by high-sensitivity C-reactive protein (hs-CRP), increased experimental pain sensitivity, measured by cold-pressor tolerance, and to test whether this relationship is independent of chronic pain. A large population-based study from 2007 to 2008, the sixth Tromsø Study, provided data from 12,981 participants. For the present analysis, complete data for 10,274 participants (age: median 58 years) were available...
March 31, 2017: Pain
https://www.readbyqxmd.com/read/28415572/inhibition-of-iron-overload-induced-apoptosis-and-necrosis-of-bone-marrow-mesenchymal-stem-cells-by-melatonin
#4
Fan Yang, Yuan Li, Gege Yan, Tianyi Liu, Chao Feng, Rui Gong, Ye Yuan, Fengzhi Ding, Lai Zhang, Elina Idiiatullina, Valentin Pavlov, Zhenbo Han, Wenya Ma, Qi Huang, Ying Yu, Zhengyi Bao, Xiuxiu Wang, Bingjie Hua, Zhimin Du, Benzhi Cai, Lei Yang
Iron overload induces severe damage to several vital organs such as the liver, heart and bone, and thus contributes to the dysfunction of these organs. The aim of this study is to investigate whether iron overload causes the apoptosis and necrosis of bone marrow mesenchymal stem cells (BMSCs) and melatonin may prevent its toxicity. Perls' Prussion blue staining showed that exposure to increased concentrations of ferric ammonium citrate (FAC) induced a gradual increase of intracellular iron level in BMSCs. Trypan blue staining demonstrated that FAC decreased the viability of BMSCs in a concentration-dependent manner...
March 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/28415143/cardiorespiratory-fitness-and-health-related-quality-of-life-in-women-at-risk-for-gestational-diabetes
#5
Elina Engberg, Heikki O Tikkanen, Anne Koponen, Harriet Hägglund, Katriina Kukkonen-Harjula, Aila Tiitinen, Juha E Peltonen, Maritta Pöyhönen-Alho
This study examined the associations of cardiorespiratory fitness (CRF) and leisure-time physical activity (LTPA) with health-related quality of life (HRQoL) in women at risk for gestational diabetes mellitus (GDM). The participants were 39 women planning pregnancy with a history of GDM and/or BMI > 29 kg·m(-2) . We assessed CRF by measuring maximal oxygen consumption (O2max ) during incremental cycle ergometer exercise until voluntary fatigue. LTPA was self-reported, and HRQoL assessed with the SF-36 Health Survey (SF-36)...
April 17, 2017: Scandinavian Journal of Medicine & Science in Sports
https://www.readbyqxmd.com/read/28414287/-metabolic-effects-of-combined-introduction-of-adrenalin-and-blocker-of-methanoprolol-beta-adrenophyleters
#6
S O Tapbergenov, B S Sovetov, A T Tapbergenov, Elina Hahn
The effect of combined administration of adrenaline (0.4 mg/kg, i.p.) and b1-blocker metoprolol (25 mg/kg) on the activity of glutathione peroxidase (GPO), glutathione reductase (GR), catalase, adenosine deaminase (AD), AMP deaminase (AMPD), 5¢-nucleotidase (5¢N), on the level ofmalonic dialdehyde (MDA) and conjugated dienes (CD) was investigated. In blood adrenaline administration to animals caused an increase in the activity of AMPD, AD, 5¢N and GPO, and the increase the level of CD in the blood increases...
March 2017: Biomedit︠s︡inskai︠a︡ Khimii︠a︡
https://www.readbyqxmd.com/read/28414018/psychological-flexibility-mediates-change-in-intuitive-eating-regulation-in-acceptance-and-commitment-therapy-interventions
#7
Essi Sairanen, Asko Tolvanen, Leila Karhunen, Marjukka Kolehmainen, Elina Järvelä-Reijonen, Sanni Lindroos, Katri Peuhkuri, Riitta Korpela, Miikka Ermes, Elina Mattila, Raimo Lappalainen
OBJECTIVE: Despite the promising results related to intuitive eating, few studies have attempted to explain the processes encouraging this adaptive eating behaviour. The focus of the present study was on exploring mechanisms of change in intuitive eating and weight in acceptance and commitment therapy (ACT) interventions. Mediation provides important information regarding the treatment processes and theoretical models related to specific treatment approaches. The study investigates whether psychological flexibility, mindfulness skills and sense of coherence mediated the interventions' effect on intuitive eating and weight...
April 17, 2017: Public Health Nutrition
https://www.readbyqxmd.com/read/28408706/embryo-culture-in-presence-of-oviductal-fluid-induces-dna-methylation-changes-in-bovine-blastocysts
#8
Antonio Daniel Barrera, Elina Vanesa García, Meriem Hamdi, Maria-Jesús Sánchez Calabuig, Angela Patricia Lopez-Cardona, Noelia Fonseca Balvís, Dimitrios Rizos, Alfonso Gutierrez-Adan
During the transit through the oviduct, the early embryo initiates an extensive DNA methylation reprogramming of its genome. Given that these epigenetic modifications are susceptible to environmental factors, components present in the oviductal milieu could affect the DNA methylation marks of the developing embryo. The aim of this study was to examine if culture of bovine embryos with oviductal fluid (OF) can induce DNA methylation changes at specific genomic regions in the resulting blastocysts. In vitro produced zygotes were cultured in medium with 3 mg/mL bovine serum albumin (BSA) or 1...
April 13, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28396692/efficacy-of-propolis-on-the-denture-stomatitis-treatment-in-older-adults-a-multicentric-randomized-trial
#9
Gisela de M S Pina, Erica N Lia, Andresa A Berretta, Andresa P Nascimento, Elina C Torres, Andrei F M Buszinski, Tatiana A de Campos, Eduardo B Coelho, Vicente de P Martins
Our hypothesis tested the efficacy and safety of a mucoadhesive oral gel formulation of Brazilian propolis extract compared to miconazole oral gel for the treatment of denture stomatitis due to Candida spp. infection in older adults. Forty patients were randomly allocated in a noninferiority clinical trial into two groups. The control group (MIC) received 20 mg/g miconazole oral gel and the study group (PROP) received mucoadhesive formulation containing standardized extract of 2% (20 mg/g) propolis (EPP-AF®) during 14 days...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28391318/mating-changes-sexually-dimorphic-gene-expression-in-the-seed-beetle-callosobruchus-maculatus
#10
Elina Immonen, Ahmed Sayadi, Helen Bayram, Göran Arnqvist
Sexually dimorphic phenotypes arise largely from sex-specific gene expression, which has mainly been characterized in sexually naïve adults. However, we expect sexual dimorphism in transcription to be dynamic and dependent on factors such as reproductive status. Mating induces many behavioral and physiological changes distinct to each sex and is therefore expected to activate regulatory changes in many sex-biased genes. Here, we first characterized sexual dimorphism in gene expression in Callosobruchus maculatus seed beetles...
March 1, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28391244/introducing-inducible-fluorescent-split-cholesterol-oxidase-to-mammalian-cells
#11
Konstantin G Chernov, Maarit Neuvonen, Ivonne Brock, Elina Ikonen, Vladislav V Verkhusha
Cholesterol oxidase (COase) is a bacterial enzyme catalyzing the first step in the biodegradation of cholesterol. COase is an important biotechnological tool for clinical diagnostics and production of steroid drugs and insecticides. It is also used for tracking of intracellular cholesterol, however, its utility is limited by the lack of an efficient temporal control of its activity. To overcome this, we have developed a regulatable fragment complementation system for COase cloned from Chromobacterium sp. The enzyme was split into two moieties that were fused to FKBP (FK506-binding protein) and FRB (rapamycin-binding domain) pair and split GFP fragments...
April 7, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28380698/myoclonus-epilepsy-and-ataxia-due-to-kcnc1-mutation-analysis-of-20-cases-and-k-channel-properties
#12
Karen L Oliver, Silvana Franceschetti, Carol J Milligan, Mikko Muona, Simone A Mandelstam, Laura Canafoglia, Anna M Boguszewska-Chachulska, Amos Korczyn, Francesca Bisulli, Carlo Di Bonaventura, Francesca Ragona, Roberto Michelucci, Bruria Ben-Zeev, Rachel Straussberg, Ferruccio Panzica, João Massano, Daniel Friedman, Arielle Crespel, Bernt A Engelsen, Frederick Andermann, Eva Andermann, Krystyna Spodar, Anetta Lasek-Bal, Patrizia Riguzzi, Elena Pasini, Paolo Tinuper, Laura Licchetta, Elena Gardella, Matthias Lindenau, Annette Wulf, Rikke S Møller, Felix Benninger, Zaid Afawi, Guido Rubboli, Christopher A Reid, Snezana Maljevic, Holger Lerche, Anna-Elina Lehesjoki, Steven Petrou, Samuel F Berkovic
OBJECTIVE: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium (K(+) ) channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. METHODS: We analysed clinical, electroclinical and neuroimaging data for twenty patients with MEAK due to recurrent KCNC1 p.R320H mutation. In vitro electrophysiological studies were conducted using whole cell patch clamp to explore biophysical properties of wild-type and mutant KV 3...
April 5, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28377535/grin2b-encephalopathy-novel-findings-on-phenotype-variant-clustering-functional-consequences-and-treatment-aspects
#13
Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang, Marcia C Willing, Brad T Tinkle, Darius J Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M Strom, Heather C Mefford, Candace T Myers, Alison M Muir, Amy LaCroix, Lynette Sadleir, Ingrid E Scheffer, Eva Brilstra, Mieke M van Haelst, Jasper J van der Smagt, Levinus A Bok, Rikke S Møller, Uffe B Jensen, John J Millichap, Anne T Berg, Ethan M Goldberg, Isabelle De Bie, Stephanie Fox, Philippe Major, Julie R Jones, Elaine H Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J Leventer, John A Lawson, Tony Roscioli, Floor E Jansen, Emmanuelle Ranza, Christian M Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Douglas R Smith, Christine Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen-Hann Tan, Mark A Tarnopolsky, Lauren I Brady, Markus Wolff, Lutz Dondit, Helio F Pedro, Sarah E Parisotto, Kelly L Jones, Anup D Patel, David N Franz, Rena Vanzo, Elysa Marco, Judith D Ranells, Nataliya Di Donato, William B Dobyns, Bodo Laube, Stephen F Traynelis, Johannes R Lemke
BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. METHODS: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care...
April 4, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28377049/the-endocytic-pathways-of-a-secretory-granule-membrane-protein-in-hek293-cells-pam-and-egf-traverse-a-dynamic-multivesicular-body-network-together
#14
Nils Bäck, Kristiina Kanerva, Vishwanatha Kurutihalli, Andrew Yanik, Elina Ikonen, Richard E Mains, Betty A Eipper
Peptidylglycine α-amidating monooxygenase (PAM) is highly expressed in neurons and endocrine cells, where it catalyzes one of the final steps in the biosynthesis of bioactive peptides. PAM is also expressed in unicellular organisms such as Chlamydomonas reinhardtii, which do not store peptides in secretory granules. As for other granule membrane proteins, PAM is retrieved from the cell surface and returned to the trans-Golgi network. This pathway involves regulated entry of PAM into multivesicular body intralumenal vesicles (ILVs)...
March 28, 2017: European Journal of Cell Biology
https://www.readbyqxmd.com/read/28374933/sialylation-is-dispensable-for-early-murine-embryonic-development-in-vitro
#15
Markus Abeln, Kristina Borst, Samanta Cajic, Hauke Thiesler, Elina Kats, Iris Albers, Maike Kuhn, Volkhard Kaever, Erdmann Rapp, Anja Münster-Kühnel, Birgit Weinhold
The negatively charged nonulose sialic acid (Sia) is essential for murine development in vivo. To elucidate the impact of sialylation on differentiation processes in the absence of maternal effects, we generated mouse embryonic stem cell (mESC) lines that lack CMP-Sia synthetase (CMAS) and thereby the capacity of activating Sia to CMP-Sia. Loss of CMAS activity resulted in an asialo cell surface, accompanied by an increase in glycoconjugates with terminal galactosyl and oligo-LacNAc residues as well as intracellular accumulation of free Sia...
April 4, 2017: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/28374737/extinct-type-of-human-parvovirus-b19-persists-in-tonsillar-b-cells
#16
Lari Pyöriä, Mari Toppinen, Elina Mäntylä, Lea Hedman, Leena-Maija Aaltonen, Maija Vihinen-Ranta, Taru Ilmarinen, Maria Söderlund-Venermo, Klaus Hedman, Maria F Perdomo
Parvovirus B19 (B19V) DNA persists lifelong in human tissues, but the cell type harbouring it remains unclear. We here explore B19V DNA distribution in B, T and monocyte cell lineages of recently excised tonsillar tissues from 77 individuals with an age range of 2-69 years. We show that B19V DNA is most frequent and abundant among B cells, and within them we find a B19V genotype that vanished from circulation >40 years ago. Since re-infection or re-activation are unlikely with this virus type, this finding supports the maintenance of pathogen-specific humoral immune responses as a consequence of B-cell long-term survival rather than continuous replenishment of the memory pool...
April 4, 2017: Nature Communications
https://www.readbyqxmd.com/read/28374054/-tuna-saving-endoscopic-medial-maxillectomy-a-surgical-technique-for-maxillary-inverted-papilloma
#17
Fabio Pagella, Alessandro Pusateri, Elina Matti, Irene Avato, Dario Zaccari, Enzo Emanuelli, Tiziana Volo, Diego Cazzador, Leonardo Citraro, Giampiero Ricci, Giovanni Leo Tomacelli
The maxillary sinus is the most common site of sinonasal inverted papilloma. Endoscopic sinus surgery, in particular endoscopic medial maxillectomy, is currently the gold standard for treatment of maxillary sinus papilloma. Although a common technique, complications such as stenosis of the lacrimal pathway and consequent development of epiphora are still possible. To avoid these problems, we propose a modification of this surgical technique that preserves the head of the inferior turbinate and the nasolacrimal duct...
April 3, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28361956/role-for-formin-like-1-dependent-acto-myosin-assembly-in-lipid-droplet-dynamics-and-lipid-storage
#18
Simon G Pfisterer, Gergana Gateva, Peter Horvath, Juho Pirhonen, Veijo T Salo, Leena Karhinen, Markku Varjosalo, Samppa J Ryhänen, Pekka Lappalainen, Elina Ikonen
Lipid droplets (LDs) are cellular organelles specialized in triacylglycerol (TG) storage undergoing homotypic clustering and fusion. In non-adipocytic cells with numerous LDs this is balanced by poorly understood droplet dissociation mechanisms. We identify non-muscle myosin IIa (NMIIa/MYH-9) and formin-like 1 (FMNL1) in the LD proteome. NMIIa and actin filaments concentrate around LDs, and form transient foci between dissociating LDs. NMIIa depletion results in decreased LD dissociations, enlarged LDs, decreased hydrolysis and increased storage of TGs...
March 31, 2017: Nature Communications
https://www.readbyqxmd.com/read/28357089/chromothripsis-and-progression-free-survival-in-metastatic-colorectal-cancer
#19
Elina Skuja, Dagnija Kalniete, Miki Nakazawa-Miklasevica, Zanda Daneberga, Arnis Abolins, Gunta Purkalne, Edvins Miklasevics
Metastatic dissemination of the primary tumor is the major cause of death in colorectal cancer (CRC) patients. Multiple chromosomal breaks and chromothripsis, a phenomenon involving multiple chromosomal fragmentations occurring in a single catastrophic event, are associated with cancer genesis, progression and developing of metastases. The aim of this study was to evaluate the effect of chromothripsis and total breakpoint count (breakpoint instability index) on progression-free survival (PFS). A total of 19 patients with metastatic CRC (mCRC) receiving FOLFOX first-line palliative chemotherapy between August, 2011 and October, 2012 were selected for this study...
February 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28351714/evaluation-of-environmental-and-nutritional-factors-and-sua-gene-on-in%C3%A2-vitro-biofilm-formation-of-streptococcus-uberis-isolates
#20
Melina Vanesa Moliva, Florencia Cerioli, Elina Beatriz Reinoso
The pathogenesis of Streptococcus uberis is attributed to a combination of extracellular factors and properties such as adherence and biofilm formation. The aim of this work was to evaluate the influence of different factors, additives and bovine milk compounds on S. uberis biofilm formation, as the presence of the sua gene by PCR. Additionally, extracellular DNA and the effect of DNaseI were evaluated in the biofilms yielded. Optimal biofilm development was observed when the pH was adjusted to 7.0 and 37 °C...
March 27, 2017: Microbial Pathogenesis
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