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https://www.readbyqxmd.com/read/28810326/-the-analysis-of-prognosis-associated-factors-in-adults-with-acute-promyelocytic-leukemia
#1
R J Ma, Z M Zhu, X L Yuan, L Jiang, S W Yang, J Yang, J M Guo, J Shi, P C Lei, L Zhang, B J Shang, K Sun, Y P Zhai, W Li, Y Zhang
Objective: To explore the prognostic value of CD34, CD2, CD56 expressions and FLT3-ITD mutation in adults with acute promyelocytic leukemia (APL) . Methods: The immuno-phenotypic and molecular characteristics of 137 adult patients with APL (from January 2010 to March 2016, in Henan Provincial People's Hospital) were investigated. And the relationships between CD34, CD2, CD56 expressions, FLT3-ITD mutation and the outcomes of high WBC counts at onset, complete remission (CR) rate, early mortality, relapse rate (RR) , overall survival (OS) , disease free survival (DFS) were explored...
July 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28808318/stress-induced-polarization-of-immune-neuroendocrine-phenotypes-in-gallus-gallus
#2
F Nicolas Nazar, Inma Estevez, Silvia G Correa, Raul H Marin
Immune-neuroendocrine phenotypes (INPs) stand for population subgroups differing in immune-neuroendocrine interactions. While mammalian INPs have been characterized thoroughly in rats and humans, avian INPs were only recently described in Coturnix coturnix (quail). To assess the scope of this biological phenomenon, herein we characterized INPs in Gallus gallus (a domestic hen strain submitted to a very long history of strong selective breeding pressure) and evaluated whether a social chronic stress challenge modulates the individuals' interplay affecting the INP subsets and distribution...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28805903/chronic-activation-of-amp-activated-protein-kinase-increases-monocarboxylate-transporter-2-and-4-expression-in-skeletal-muscle
#3
E M England, H Shi, S K Matarneh, E M Oliver, E T Helm, T L Scheffler, E Puolanne, D E Gerrard
Acute activation of AMP-activated protein kinase (AMPK) increases monocarboxylate transporter (MCT) expression in skeletal muscle. However, the impact of chronic activation of AMPK on MCT expression in skeletal muscle is unknown. To investigate, MCT1, MCT2, and MCT4 mRNA expression and protein abundance were measured in the longissimus lumborum (glycolytic), masseter (oxidative), and heart from wild-type (control) and AMPK γ3 pigs. The AMPK γ3 gain in function mutation results in AMPK being constitutively active in glycolytic skeletal muscle and increases energy producing pathways...
August 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28805828/mutations-in-keops-complex-genes-cause-nephrotic-syndrome-with-primary-microcephaly
#4
Daniela A Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Jennifer A Lawson, Denny Schanze, Shazia Ashraf, Jeremy F P Ullmann, Charlotte A Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Monica Furlano, I Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer F Hu, Anne-Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won-Il Choi, Carolin E Sadowski, Werner L Pabst, Jillian K Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, Malcolm Bruce, Gaik-Siew Ch'ng, Shuan-Pei Lin, Jui-Hsing Chang, Chao-Huei Chen, Megan T Cho, Patrick M Gaffney, Patrick E Gipson, Chyong-Hsin Hsu, Jameela A Kari, Yu-Yuan Ke, Cathy Kiraly-Borri, Wai-Ming Lai, Emmanuelle Lemyre, Rebecca Okashah Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Ozaltin, Marleen Praet, Chitra Prasad, Agnieszka Prytula, Elizabeth R Roeder, Patrick Rump, Rhonda E Schnur, Takashi Shiihara, Manish D Sinha, Neveen A Soliman, Kenza Soulami, David A Sweetser, Wen-Hui Tsai, Jeng-Daw Tsai, Rezan Topaloglu, Udo Vester, David H Viskochil, Nithiwat Vatanavicharn, Jessica L Waxler, Klaas J Wierenga, Matthias T F Wolf, Sik-Nin Wong, Sebastian A Leidel, Gessica Truglio, Peter C Dedon, Annapurna Poduri, Shrikant Mane, Richard P Lifton, Maxime Bouchard, Peter Kannu, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue...
August 14, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28804459/metabolic-variability-of-a-multispecies-probiotic-preparation-impacts-on-the-anti-inflammatory-activity
#5
Michele Biagioli, Luca Laghi, Adriana Carino, Sabrina Cipriani, Eleonora Distrutti, Silvia Marchianò, Carola Parolin, Paolo Scarpelli, Beatrice Vitali, Stefano Fiorucci
Background: In addition to strain taxonomy, the ability of probiotics to confer beneficial effects on the host rely on a number of additional factors including epigenetic modulation of bacterial genes leading to metabolic variability and might impact on probiotic functionality. Aims: To investigate metabolism and functionality of two different batches of a probiotic blend commercialized under the same name in Europe in models of intestinal inflammation. Methods: Boxes of VSL#3, a probiotic mixture used in the treatment of pouchitis, were obtained from pharmacies in UK subjected to metabolomic analysis and their functionality tested in mice rendered colitis by treatment with DSS or TNBS...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28799881/prevalence-and-microbiological-characteristics-of-qaca-b-positive-methicillin-resistant-staphylococcus-aureus-isolates-in-a-surgical-intensive-care-unit
#6
Oh-Hyun Cho, Ki-Ho Park, Ji Young Song, Jeong Min Hong, Taeeun Kim, Sun In Hong, Sunjoo Kim, In-Gyu Bae
The increasing use of chlorhexidine for methicillin-resistant Staphylococcus aureus (MRSA) decolonization has raised concerns about the emergence of resistance to or tolerance of this antiseptic. We examined the frequency and characteristics of qacA/B chlorhexidine tolerance genes among MRSA isolates in a surgical intensive care unit (ICU) where MRSA-colonized patients are decolonized by chlorhexidine bathing. The MRSA isolates were evaluated for chlorhexidine susceptibility, mupirocin resistance, molecular typing, agr functionality, and the heterogeneous vancomycin-intermediate S...
August 11, 2017: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
https://www.readbyqxmd.com/read/28798065/self-organization-process-in-newborn-skin-organoid-formation-inspires-strategy-to-restore-hair-regeneration-of-adult-cells
#7
Mingxing Lei, Linus J Schumacher, Yung-Chih Lai, Wen-Tau Juan, Chao-Yuan Yeh, Ping Wu, Ting-Xin Jiang, Ruth E Baker, Randall Bruce Widelitz, Li Yang, Cheng-Ming Chuong
Organoids made from dissociated progenitor cells undergo tissue-like organization. This in vitro self-organization process is not identical to embryonic organ formation, but it achieves a similar phenotype in vivo. This implies genetic codes do not specify morphology directly; instead, complex tissue architectures may be achieved through several intermediate layers of cross talk between genetic information and biophysical processes. Here we use newborn and adult skin organoids for analyses. Dissociated cells from newborn mouse skin form hair primordia-bearing organoids that grow hairs robustly in vivo after transplantation to nude mice...
August 10, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28794432/tdp-43-stabilises-the-processing-intermediates-of-mitochondrial-transcripts
#8
Keiichi Izumikawa, Yuko Nobe, Harunori Yoshikawa, Hideaki Ishikawa, Yutaka Miura, Hiroshi Nakayama, Takashi Nonaka, Masato Hasegawa, Naohiro Egawa, Haruhisa Inoue, Kouki Nishikawa, Koji Yamano, Richard J Simpson, Masato Taoka, Yoshio Yamauchi, Toshiaki Isobe, Nobuhiro Takahashi
The 43-kDa trans-activating response region DNA-binding protein 43 (TDP-43) is a product of a causative gene for amyotrophic lateral sclerosis (ALS). Despite of accumulating evidence that mitochondrial dysfunction underlies the pathogenesis of TDP-43-related ALS, the roles of wild-type TDP-43 in mitochondria are unknown. Here, we show that the small TDP-43 population present in mitochondria binds directly to a subset of mitochondrial tRNAs and precursor RNA encoded in L-strand mtDNA. Upregulated expression of TDP-43 stabilised the processing intermediates of mitochondrial polycistronic transcripts and their products including the components of electron transport and 16S mt-rRNA, similar to the phenotype observed in cells deficient for mitochondrial RNase P...
August 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28782044/evolution-of-complex-adaptations-in-molecular-systems
#9
Csaba Pál, Balázs Papp
A central challenge in evolutionary biology concerns the mechanisms by which complex adaptations arise. Such adaptations depend on the fixation of multiple, highly specific mutations, where intermediate stages of evolution seemingly provide little or no benefit. It is generally assumed that the establishment of complex adaptations is very slow in nature, as evolution of such traits demands special population genetic or environmental circumstances. However, blueprints of complex adaptations in molecular systems are pervasive, indicating that they can readily evolve...
August 2017: Nature ecology & evolution
https://www.readbyqxmd.com/read/28780662/bicuspid-aortic-valvulopathy-and-associated-aortopathy-a-review-of-contemporary-studies-relevant-to-clinical-decision-making
#10
REVIEW
Michael H Kwon, Thoralf M Sundt
The bicuspid aortic valve (BAV) phenotype is becoming increasingly recognized as a complex and heterogeneous clinical entity, with some but not all patients developing accelerated degrees of both aortic insufficiency (AI) and aortic stenosis (AS) in comparison to patients with tricuspid aortic valves (TAV). In addition, there remains a well-established association between the BAV phenotype and aortic enlargement independent of valve function as well as progression among some to ascending aortic aneurysm and the attendant concern over risk of aortic dissection...
September 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28777483/skewed-x-inactivation-in-a-family-with-dlg3-associated-x-linked-intellectual-disability
#11
Laura Gieldon, Luisa Mackenroth, Elitza Betcheva-Krajcir, Andreas Rump, Stefanie Beck-Wödl, Jens Schallner, Nataliya Di Donato, Evelin Schröck, Andreas Tzschach
Mutations in DLG3 are a rare cause of non-syndromic X-linked intellectual disability (XLID) (MRX90, OMIM *300189). Only ten DLG3 mutations have been reported to date. The majority of female heterozygous mutation carriers was healthy and had random X-inactivation patterns. We report on an XLID family with a novel DLG3 mutation. The 12-year-old male index patient had moderate intellectual disability (ID) and dysmorphic features. The mutation was also present in four female relatives. A maternal aunt had moderate ID and significantly skewed X-inactivation favorably inactivating the normal DLG3 allele...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28771186/epithelial-to-mesenchymal-transition-and-micrornas-in-lung-cancer
#12
REVIEW
Antoine Legras, Nicolas Pécuchet, Sandrine Imbeaud, Karine Pallier, Audrey Didelot, Hélène Roussel, Laure Gibault, Elizabeth Fabre, Françoise Le Pimpec-Barthes, Pierre Laurent-Puig, Hélène Blons
Despite major advances, non-small cell lung cancer (NSCLC) remains the major cause of cancer-related death in developed countries. Metastasis and drug resistance are the main factors contributing to relapse and death. Epithelial-to-mesenchymal transition (EMT) is a complex molecular and cellular process involved in tissue remodelling that was extensively studied as an actor of tumour progression, metastasis and drug resistance in many cancer types and in lung cancers. Here we described with an emphasis on NSCLC how the changes in signalling pathways, transcription factors expression or microRNAs that occur in cancer promote EMT...
August 3, 2017: Cancers
https://www.readbyqxmd.com/read/28769582/cyp2d6-phenotypes-are-associated-with-adverse-outcomes-related-to-opioid-medications
#13
Jennifer L St Sauver, Janet E Olson, Veronique L Roger, Wayne T Nicholson, John L Black, Paul Y Takahashi, Pedro J Caraballo, Elizabeth J Bell, Debra J Jacobson, Nicholas B Larson, Suzette J Bielinski
BACKGROUND: Variation in the CYP2D6 gene may affect response to opioids in both poor and ultrarapid metabolizers, but data demonstrating such associations have been mixed, and the impact of variants on toxicity-related symptoms (e.g., nausea) is unclear. Therefore, we examined the association between CYP2D6 phenotype and poor pain control or other adverse symptoms related to the use of opioids in a sample of primary care patients. MATERIALS AND METHODS: We identified all patients in the Mayo Clinic RIGHT Protocol who were prescribed an opioid medication between July 01, 2013 and June 30, 2015, and categorized patients into three phenotypes: poor, intermediate to extensive, or ultrarapid CYP2D6 metabolizers...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28767726/high-resolution-phenotyping-identifies-nk-cell-subsets-that-distinguish-healthy-children-from-adults
#14
Sanjana Mahapatra, Emily M Mace, Charles G Minard, Lisa R Forbes, Alexander Vargas-Hernandez, Teresa K Duryea, George Makedonas, Pinaki P Banerjee, William T Shearer, Jordan S Orange
Natural killer (NK) cells are critical in immune defense against infected, stressed or transformed cells. Their function is regulated by the heterogeneous expression of a wide array of surface receptors that shape its phenotypic diversity. Although NK cells develop in the bone marrow and secondary lymphoid tissues, substantive differentiation is apparent in the peripheral blood including known age-related variation. In order to gain greater insight into phenotypic and functional variation within peripheral blood NK cells across age groups, we used multi-parametric, polyfunctional flow cytometry to interrogate the NK cell variability in 20 healthy adults and 15 5-10, 11-15 and 16-20 year-old children...
2017: PloS One
https://www.readbyqxmd.com/read/28765330/genome-stability-by-dna-polymerase-%C3%AE-in-neural-progenitors-contributes-to-neuronal-differentiation-in-cortical-development
#15
Kohei Onishi, Akiko Uyeda, Mitsuhiro Shida, Teruyoshi Hirayama, Takeshi Yagi, Nobuhiko Yamamoto, Noriyuki Sugo
DNA repair is crucial for genome stability in the developing cortex, as somatic de novo mutations cause neurological disorders. However, how DNA repair contributes to neuronal development is largely unknown. To address this issue, we studied the spatiotemporal roles of DNA polymerase β (Polβ), a key enzyme in DNA base excision repair (BER) pathway, in the developing cortex using distinct forebrain-specific conditional knockout mice, Emx1-Cre/Polβ(fl/fl) and Nex-Cre/Polβ(fl/fl) mice. Polβ expression was absent in both neural progenitors and postmitotic neurons in Emx1-Cre/Polβ(fl/fl) mice, while only postmitotic neurons lacked Polβ expression in Nex-Cre/Polβ(fl/fl) mice...
August 1, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28765293/mapping-quantitative-trait-loci-in-yeast
#16
Gianni Liti, Jonas Warringer, Anders Blomberg
Natural Saccharomyces strains isolated from the wild differ quantitatively in molecular and organismal phenotypes. Quantitative trait loci (QTL) mapping is a powerful approach for identifying sequence variants that alter gene function. In yeast, QTL mapping has been used in designed crosses to map functional polymorphisms. This approach, outlined here, is often the first step in understanding the molecular basis of quantitative traits. New large-scale sequencing surveys have the potential to directly associate genotypes with organismal phenotypes, providing a broader catalog of causative genetic variants...
August 1, 2017: Cold Spring Harbor Protocols
https://www.readbyqxmd.com/read/28761477/molecular-and-morphological-characterizations-of-echinococcus-granulosus-from-human-and-animal-isolates-in-kashan-markazi-province-iran
#17
Mohsen Arbabi, Majid Pirestani, Mahdi Delavari, Hossein Hooshyar, Amir Abdoli, Shahab Sarvi
BACKGROUND: One of the most important zoonotic helminths in the world is known as Echinococcus granulosus. Different strains of the E. granulosus have been described based on morphological and molecular characterizations, however, there is limited information regarding the characteristics of the phenotypes and genotypes of E. granulosus in Iran. METHODS: The present study was prepared to evaluate the phenotypic and genotypic diversity of E. granulosus isolates collected from human, goat, sheep, and cattle based on 19 standard morphometric parameters and mitochondrial and nuclear genes (CO1, ND1, and ITS1) in Kashan, Markazi Province, Iran during 2013-2014...
April 2017: Iranian Journal of Parasitology
https://www.readbyqxmd.com/read/28760337/somatic-mosaicism-represents-an-underestimated-event-underlying-collagen-6-related-disorders
#18
Adele D'Amico, Fabiana Fattori, Giorgio Tasca, Stefania Petrini, Francesca Gualandi, Alessandro Bruselles, Valentina D'Oria, Margherita Verardo, Rosalba Carrozzo, Marcello Niceta, Bjarne Udd, Alessandra Ferlini, Marco Tartaglia, Enrico Bertini
BACKGROUND: Collagen VI-related disorders (COL6-RD) are a group of heterogenous muscular diseases due to mutations in the COL6A1, COL6A2 and COL6A3 genes, encoding for collagen VI, a critical component of the extracellular matrix. Ullrich congenital muscle disorder and Bethlem myopathy represent the ends of a clinical spectrum that includes intermediate phenotypes of variable severity. UCMD are caused by recessive loss of function mutations or de-novo dominant-negative mutations. The intermediate phenotype and BM are more commonly caused by dominantly acting mutations, and less commonly by recessive mutations...
July 22, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28758940/non-targeted-metabolomics-analysis-of-golden-retriever-muscular-dystrophy-affected-muscles-reveals-alterations-in-arginine-and-proline-metabolism-and-elevations-in-glutamic-and-oleic-acid-in-vivo
#19
Muhammad Abdullah, Joe N Kornegay, Aubree Honcoop, Traci L Parry, Cynthia J Balog-Alvarez, Sara K O'Neal, James R Bain, Michael J Muehlbauer, Christopher B Newgard, Cam Patterson, Monte S Willis
BACKGROUND: Like Duchenne muscular dystrophy (DMD), the Golden Retriever Muscular Dystrophy (GRMD) dog model of DMD is characterized by muscle necrosis, progressive paralysis, and pseudohypertrophy in specific skeletal muscles. This severe GRMD phenotype includes moderate atrophy of the biceps femoris (BF) as compared to unaffected normal dogs, while the long digital extensor (LDE), which functions to flex the tibiotarsal joint and serves as a digital extensor, undergoes the most pronounced atrophy...
July 29, 2017: Metabolites
https://www.readbyqxmd.com/read/28757672/aggressive-behaviours-track-transitions-in-seasonal-phenotypes-of-female-siberian-hamsters
#20
Nikki M Rendon, Andrea C Amez, Melissa R Proffitt, Elizabeth R Bauserman, Gregory E Demas
Seasonally breeding animals exhibit profound physiological and behavioural responses to changes in ambient day length (photoperiod), including changes in reproductive function and territorial aggression.Species where aggression persists when gonads are regressed and circulating levels of gonadal hormones are low, such as Siberian hamsters (Phodopus sungorus) and song sparrows (Melospiza melodia), challenge the well-established framework that gonadal hormones are important mediators of aggression.A solution to this apparent paradox is that a season-specific increase in sensitivity to hormones in brain areas associated with aggression offsets low levels of gonadal hormones during periods of reproductive quiescence...
May 2017: Functional Ecology
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