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https://www.readbyqxmd.com/read/28644430/the-clinical-landscape-for-sma-in-a-new-therapeutic-era
#1
REVIEW
K Talbot, E F Tizzano
Despite significant advances in basic research, the treatment of degenerative diseases of the nervous system remains one of the greatest challenges for translational medicine. The childhood onset motor neuron disorder spinal muscular atrophy (SMA) has been viewed as one of the more tractable targets for molecular therapy, due to a detailed understanding of the molecular genetic basis of the disease. In SMA, inactivating mutations in the SMN1 gene can be partially compensated for by limited expression of SMN protein from a variable number of copies of the SMN2 gene, which provides both a molecular explanation for phenotypic severity and a target for therapy...
June 23, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28643800/striatal-dopamine-d2-d3-receptor-availability-varies-across-smoking-status
#2
Corinde E Wiers, Elizabeth A Cabrera, Dardo Tomasi, Christopher T Wong, Şükrü B Demiral, Sung Won Kim, Gene-Jack Wang, Nora D Volkow
To assess how tobacco smoking status affects baseline dopamine D2/D3 (D2R) receptor availability and methylphenidate-induced dopamine (DA) release, we retrospectively analyzed D2R availability measures of 8 current smokers, 10 ex-smokers, and 18 non-smokers who were scanned with Positron Emission Tomography and [(11)C]raclopride, after administration of an injection of placebo or 0.5 mg/kg iv methylphenidate. There was a significant effect of smoking status on baseline striatal D2R availability; with current smokers showing lower striatal D2R availability compared to non-smokers (caudate, putamen and ventral striatum) and to ex-smokers (caudate and putamen)...
June 23, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28643785/dnmt3a-mutant-transcript-levels-persist-in-remission-and-do-not-predict-outcome-in-patients-with-acute-myeloid-leukemia
#3
V I Gaidzik, D Weber, P Paschka, A Kaumanns, S Krieger, A Corbacioglu, J Krönke, S Kapp-Schwoerer, D Krämer, H-A Horst, I Schmidt-Wolf, G Held, A Kündgen, M Ringhoffer, K Götze, T Kindler, W Fiedler, M Wattad, R F Schlenk, L Bullinger, V Teleanu, B Schlegelberger, F Thol, M Heuser, A Ganser, H Döhner, K Döhner
We investigated the prognostic impact of minimal residual disease (MRD) monitoring in acute myeloid leukemia (AML) patients harboring DNA methyltransferase 3A-R882H/-R882C mutations (DNMT3A(mut)). MRD was determined by real-time quantitative polymerase chain reaction (RQ-PCR) in 1,494 samples of 181 DNMT3A(mut) patients. At the time of diagnosis, DNMT3A(mut) transcript levels did not correlate with presenting clinical characteristics, concurrent gene mutations as well as the survival endpoints. In Cox regression analyses, bone marrow DNMT3A(mut) transcript levels (log 10 transformed continuous variable) were not associated with the rate of relapse or death...
June 23, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28642594/differential-effects-on-gene-transcription-and-hematopoietic-differentiation-correlate-with-gata2-mutant-disease-phenotypes
#4
C-E Chong, P Venugopal, P H Stokes, Y K Lee, P J Brautigan, D T O Yeung, M Babic, G A Engler, S W Lane, M Klingler-Hoffmann, J M Matthews, R J D'Andrea, A L Brown, C N Hahn, H S Scott
Heterozygous GATA2 mutations underlie an array of complex hematopoietic and lymphatic diseases. Analysis of the literature reporting three recurrent GATA2 germline (g) mutations (gT354M, gR396Q, gR398W) revealed different phenotype tendencies. While all three mutants differentially predispose to myeloid malignancies, there was no difference in leukemia-free survival for GATA2 patients. Despite intense interest, the molecular pathogenesis of GATA2 mutation is poorly understood. We functionally characterized a GATA2 mutant allelic series representing major disease phenotypes caused by germline and somatic (s) mutations in zinc finger (ZF) 2...
June 23, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28642593/transforming-growth-factor-%C3%AE-1-regulates-the-nascent-hematopoietic-stem-cell-niche-by-promoting-gluconeogenesis
#5
C-Y Zhang, H-M Yin, H Wang, D Su, Y Xia, L-F Yan, B Fang, W Liu, Y-M Wang, A-H Gu, Y Zhou
The understanding of hematopoietic stem cell (HSC) emergence is important to generate HSCs from pluripotent precursors. However, integrated signaling network that regulates the niche of nascent HSCs remains unclear. Herein, we uncovered a novel role of TGF-β1 in the metabolic niche of HSC emergence using the tgf-β1b(-/-) zebrafish. Our findings first showed that Tgf-β1 transcripts were enriched in the nascent HSCs. Loss of tgf-β1b caused a decrease of nascent HSCs within the aorta-gonad-mesonephros. Moreover, tgf-β1b(+) cells were runx1(+) HSCs and underwent an endothelial-to-hematopoietic-transition process...
June 23, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28642592/integrative-network-analysis-identifies-novel-drivers-of-pathogenesis-and-progression-in-newly-diagnosed-multiple-myeloma
#6
A Laganà, D Perumal, D Melnekoff, B Readhead, B A Kidd, V Leshchenko, P-Y Kuo, J Keats, M DeRome, J Yesil, D Auclair, S Lonial, A Chari, H J Cho, B Barlogie, S Jagannath, J T Dudley, S Parekh
Multiple Myeloma (MM) is an incurable malignancy of bone marrow plasma cells characterized by wide clinical and molecular heterogeneity. In this study we applied an integrative network biology approach to molecular and clinical data measured from 450 patients with newly diagnosed MM from the MMRF CoMMpass study. A novel network model of myeloma (MMNet) was constructed, revealing complex molecular disease patterns and novel associations between clinical traits and genomic markers. Genomic alterations and groups of co-expressed genes correlate with disease stage, tumor clonality, and early progression...
June 23, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28642591/donor-and-recipient-age-gender-and-abo-incompatibility-regardless-of-donor-source-validated-criteria-for-donor-selection-for-hematopoietic-transplants
#7
Y Wang, D-P Wu, Q-F Liu, L-P Xu, K-Y Liu, X-H Zhang, Y Xu, F Huang, X-J Huang
Prior data indicate similar outcomes after transplants from HLA-haplotype-matched relatives, HLA-identical siblings and HLA-matched unrelated donors. We used our prospective dataset to answer a clinically important question: who is the best donor for a person with acute leukemia transplanted in 1st complete remission. Patients were randomly divided into training (n=611) and validation (n=588) sets. 1199 consecutive subjects received a transplant from an HLA-haplotype-matched relative using granulocyte colony-stimulating factor (G-CSF) and anti-thymocyte globulin (ATG) (n=685) or an HLA-identical sibling (n=514); 3-year leukaemia-free survivals (LFSs) were 75 and 74% (P=0...
June 23, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28639347/high-energy-power-and-low-temperature-cathode-for-sodium-ion-batteries-in-situ-xrd-study-and-superior-full-cell-performance
#8
Jin-Zhi Guo, Peng-Fei Wang, Xing-Long Wu, Xiao-Hua Zhang, Qingyu Yan, Hong Chen, Jing-Ping Zhang, Yu-Guo Guo
Sodium-ion batteries (SIBs) are still confronted with several major challenges, including low energy and power densities, short-term cycle life, and poor low-temperature performance, which severely hinder their practical applications. Here, a high-voltage cathode composed of Na3 V2 (PO4 )2 O2 F nano-tetraprisms (NVPF-NTP) is proposed to enhance the energy density of SIBs. The prepared NVPF-NTP exhibits two high working plateaux at about 4.01 and 3.60 V versus the Na(+) /Na with a specific capacity of 127.8 mA h g(-1) ...
June 22, 2017: Advanced Materials
https://www.readbyqxmd.com/read/28634364/lipid-changes-8-years-post-gastric-bypass-in-adolescents-with-severe-obesity-fabs-5-study
#9
Amy S Shah, Todd Jenkins, Zhiqian Gao, Stephen R Daniels, Elaine M Urbina, Shelley Kirk, Robert Siegel, Thomas H Inge
OBJECTIVE: Severe obesity in adolescents is increasing and few effective treatments exist. Bariatric surgery is one option, but the extent to which surgery influences cardiovascular risk factors over time in youth is not clear. We hypothesized that Roux-en Y gastric bypass (RYGB) would be associated with sustained improvements in lipids over time (>5 years). PARTICIPANTS/METHODS: Youth who underwent RYGB from 2001-2007 were recruited for the Follow-up of Adolescent Bariatric Surgery-5+ (FABS-5+) in 2011-2014...
June 21, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28634363/long-term-health-outcomes-in-patients-with-prader-willi-syndrome-a-nationwide-cohort-study-in-denmark
#10
E Hedgeman, S P Ulrichsen, S Carter, N C Kreher, K P Malobisky, M M Braun, J Fryzek, M S Olsen
BACKGROUND: Prader-Willi syndrome (PWS) is a rare congenital disease that affects growth, sexual development, cognitive function and behavior. Individuals exhibit food preoccupation and hyperphagia, which may lead to obesity with premature morbidity and mortality. The aim of this work was to evaluate the risk of venous thromboembolisms (VTE), myocardial infarction, pulmonary hypertension, sleep apnea, depression, anxiety and all-cause mortality among persons with PWS as compared to an age- and sex-matched general population cohort...
June 21, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28632180/preview-prevention-of-diabetes-through-lifestyle-intervention-and-population-studies-in-europe-and-around-the-world-design-methods-and-baseline-participant-description-of-an-adult-cohort-enrolled-into-a-three-year-randomised-clinical-trial
#11
Mikael Fogelholm, Thomas Meinert Larsen, Margriet Westerterp-Plantenga, Ian Macdonald, J Alfredo Martinez, Nadka Boyadjieva, Sally Poppitt, Wolfgang Schlicht, Gareth Stratton, Jouko Sundvall, Tony Lam, Elli Jalo, Pia Christensen, Mathijs Drummen, Elizabeth Simpson, Santiago Navas-Carretero, Teodora Handjieva-Darlenska, Roslyn Muirhead, Marta P Silvestre, Daniela Kahlert, Laura Pastor-Sanz, Jennie Brand-Miller, Anne Raben
Type-2 diabetes (T2D) is one of the fastest growing chronic diseases worldwide. The PREVIEW project has been initiated to find the most effective lifestyle (diet and physical activity) for the prevention of T2D, in overweight and obese participants with increased risk for T2D. The study is a three-year multi-centre, 2 × 2 factorial, randomised controlled trial. The impact of a high-protein, low-glycaemic index (GI) vs. moderate protein, moderate-GI diet in combination with moderate or high-intensity physical activity on the incidence of T2D and the related clinical end-points are investigated...
June 20, 2017: Nutrients
https://www.readbyqxmd.com/read/28631722/intrinsic-excitability-of-cocaine-associated-memories
#12
William J Wright, Yan Dong
Neuropsychopharmacology accepted article preview online, 20 June 2017. doi:10.1038/npp.2017.127.
June 20, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28631721/disc1-in-astrocytes-influences-adult-neurogenesis-and-hippocampus-dependent-behaviors-in-mice
#13
Chantelle E Terrillion, Bagrat Abazyan, Zhongxi Yang, Joshua Crawford, Alexey V Shevelkin, Yan Jouroukhin, Ki Hyun Yoo, Chang Hoon Cho, Robin Roychaudhuri, Solomon H Snyder, Mi-Hyeon Jang, Mikhail V Pletnikov
The functional role of genetic variants in glia in the pathogenesis of psychiatric disorders remains poorly studied. Disrupted-In-Schizophrenia 1 (DISC1), a genetic risk factor implicated in major mental disorders, has been implicated in regulation of astrocyte functions. As both astrocytes and DISC1 influence adult neurogenesis in the dentate gyrus (DG) of the hippocampus, we hypothesized that selective expression of dominant-negative C-terminus truncated human DISC1 (mutant DISC1) in astrocytes would affect adult hippocampal neurogenesis and hippocampus-dependent behaviors...
June 20, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28631310/zinc-supplementation-for-the-treatment-of-measles-in-children
#14
REVIEW
Ajibola A Awotiwon, Olabisi Oduwole, Anju Sinha, Charles I Okwundu
BACKGROUND: Measles is an important cause of childhood morbidity and mortality globally, despite increasing vaccine coverage. Zinc plays a significant role in the maintenance of normal immunological functions, therefore supplements given to zinc-deficient children will increase the availability of zinc and could reduce measles-related morbidity and mortality. This is an update of a review first published in 2015. OBJECTIVES: To assess the effects of zinc supplementation in reducing morbidity and mortality in children with measles...
June 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28631307/interventions-for-the-prevention-of-recurrent-erysipelas-and-cellulitis
#15
REVIEW
Adam Dalal, Marina Eskin-Schwartz, Daniel Mimouni, Sujoy Ray, Walford Days, Emmilia Hodak, Leonard Leibovici, Mical Paul
BACKGROUND: Erysipelas and cellulitis (hereafter referred to as 'cellulitis') are common bacterial skin infections usually affecting the lower extremities. Despite their burden of morbidity, the evidence for different prevention strategies is unclear. OBJECTIVES: To assess the beneficial and adverse effects of antibiotic prophylaxis or other prophylactic interventions for the prevention of recurrent episodes of cellulitis in adults aged over 16. SEARCH METHODS: We searched the following databases up to June 2016: the Cochrane Skin Group Specialised Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase, and LILACS...
June 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28630461/antrodia-cinnamomea-reduces-obesity-and-modulates-the-gut-microbiota-in-high-fat-diet-fed-mice
#16
C-J Chang, C-C Lu, C-S Lin, J Martel, Y-F Ko, D M Ojcius, T-R Wu, Y-H Tsai, T-S Yeh, J-J Lu, H-C Lai, J D Young
BACKGROUND: Obesity is associated with gut microbiota dysbiosis, disrupted intestinal barrier and chronic inflammation. Given the high and increasing prevalence of obesity worldwide, anti-obesity treatments that are safe, effective and widely available would be beneficial. We examined whether the medicinal mushroom Antrodia cinnamomea may reduce obesity in mice fed with a high-fat diet (HFD). METHODS: Male C57BL/6J mice were fed a HFD for eight weeks to induce obesity and chronic inflammation...
June 20, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28630460/oxidative-and-endoplasmic-reticulum-stress-is-impaired-in-leukocytes-from-metabolically-unhealthy-vs-healthy-obese-individuals
#17
C Bañuls, S Rovira-Llopis, S Lopez-Domenech, N Diaz-Morales, A Blas-Garcia, S Veses, C Morillas, V M Victor, M Rocha, A Hernandez-Mijares
BACKGROUND: Oxidative stress and inflammation are related to obesity, but the influence of metabolic disturbances on these parameters and their relationship with endoplasmic reticulum (ER) stress is unknown. Therefore, this study was performed to evaluate whether metabolic profile influences ER and oxidative stress in an obese population with/without comorbidities. SUBJECTS AND METHODS: A total of 113 obese patients were enrolled in the study; 29 were metabolically healthy (MHO), 53 were metabolically abnormal (MAO), and 31 had type 2 diabetes (MADO)...
June 20, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28630459/abdominal-subcutaneous-adipose-tissue-cellularity-in-men-and-women
#18
D P Andersson, E Arner, D E Hogling, M Rydén, P Arner
BACKGROUND/OBJECTIVE: Differences in subcutaneous abdominal adipose tissue (SAT) fat cell size and number (cellularity) are linked to insulin resistance. Men are generally more insulin resistant than women but it is unknown whether there is a gender dimorphism in SAT cellularity. The objective was to determine SAT cellularity and its relationship to insulin sensitivity in men and women. METHODS: In a cohort study performed at an outpatient academic clinic in Sweden, 798 women and 306 men were included...
June 20, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28630458/the-value-of-instability-an-investigation-of-intra-subject-variability-in-brain-activity-among-obese-adolescent-girls
#19
L O Bauer, R J Houston
BACKGROUND: The present study investigated the value of intra-subject variability (ISV) as a metric for revealing differences in cognition and brain activation associated with an obese versus lean body mass. METHODS: Ninety-six adolescents with a lean body mass (BMI %-ile=5-85), and 92 adolescents with an obese body mass (BMI %-ile >=95), performed two tasks (Stroop and Go/NoGo) challenging response inhibition skills. The standard deviations and averages of their reaction time and P300 electroencephalographic responses to task stimuli were computed across trials...
June 20, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28630439/recurrent-cyclin-d2-mutations-in-myeloid-neoplasms
#20
V Khanna, C A Eide, C E Tognon, J E Maxson, B Wilmot, D Bottomly, S McWeeney, D K Edwards V, B J Druker, J W Tyner
Leukemia accepted article preview online, 20 June 2017. doi:10.1038/leu.2017.195.
June 20, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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