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https://www.readbyqxmd.com/read/28212573/dynamic-variations-in-epithelial-to-mesenchymal-transition-emt-atm-and-slfn11-govern-response-to-parp-inhibitors-and-cisplatin-in-small-cell-lung-cancer
#1
C Allison Stewart, Pan Tong, Robert J Cardnell, Triparna Sen, Lerong Li, Carl M Gay, Fatemah Masrorpour, You Fan, Rasha O Bara, Ying Feng, Yuanbin Ru, Junya Fujimoto, Samrat T Kundu, Leonard E Post, Karen Yu, Yuqiao Shen, Bonnie S Glisson, Ignatio Wistuba, John V Heymach, Don L Gibbons, Jing Wang, Lauren Averett Byers
Small cell lung cancer (SCLC) is one of the most aggressive forms of cancer, with a 5-year survival <7%. A major barrier to progress is the absence of predictive biomarkers for chemotherapy and novel targeted agents such as PARP inhibitors. Using a high-throughput, integrated proteomic, transcriptomic, and genomic analysis of SCLC patient-derived xenografts (PDXs) and profiled cell lines, we identified biomarkers of drug sensitivity and determined their prevalence in patient tumors. In contrast to breast and ovarian cancer, PARP inhibitor response was not associated with mutations in homologous recombination (HR) genes (e...
February 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28212288/the-search-for-dietary-supplements-to-elevate-or-activate-circulating-paraoxonases
#2
REVIEW
José M Lou-Bonafonte, Clara Gabás-Rivera, María A Navarro, Jesús Osada
Low levels of paraoxonase 1 (PON1) have been associated with the development of several pathological conditions, whereas high levels have been shown to be anti-atherosclerotic in mouse models. These findings suggest that PON1 could be a good surrogate biomarker. The other members of the family, namely PON2 and PON3, the role of which has been much less studied, deserve more attention. This paper provides a systematic review of current evidence concerning dietary supplements in that regard. Preliminary studies indicate that the response to dietary supplements may have a nutrigenetic aspect that will need to be considered in large population studies or in clinical trials...
February 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28211974/whole-exome-sequencing-identified-1-base-pair-novel-deletion-in-bcl2-associated-athanogene-3-bag3-gene-associated-with-severe-dilated-cardiomyopathy-dcm-requiring-heart-transplant-in-multiple-family-members
#3
Muhammad Arshad Rafiq, Ayeshah Chaudhry, Melanie Care, Danna A Spears, Chantal F Morel, Robert M Hamilton
Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of the left ventricle or both ventricles. Among hereditary DCM, the genetic causes are heterogeneous, and include mutations encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. We report three severely affected males, in a four-generation pedigree, with DCM phenotype who underwent cardiac transplant. Cardiomegaly with marked biventricular dilation and fibrosis were noticeable histopathological findings...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211873/the-p53-family-members-have-distinct-roles-during-mammalian-embryonic-development
#4
Jeanine L Van Nostrand, Margot E Bowen, Hannes Vogel, Maria Barna, Laura D Attardi
The p53 tumor suppressor is a member of a multi-protein family, including the p63 and p73 transcription factors. These proteins can bind to the same consensus sites in DNA and activate the same target genes, suggesting that there could be functional redundancy between them. Indeed, double mutant mice heterozygous for any two family member-encoding genes display enhanced cancer phenotypes relative to single heterozygous mutants. However, whether the family members play redundant roles during embryonic development has remained largely unexplored...
February 17, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28211824/impact-of-the-brain-injury-family-intervention-bifi-training-on-rehabilitation-providers-a-mixed-methods-study
#5
Cara Meixner, Cynthia R O'Donoghue, Vesna Hart
BACKGROUND: The psychological impact of TBI is vast, leading to adverse effects on survivors and their caregivers. Unhealthy family functioning may be mitigated by therapeutic strategies, particularly interdisciplinary family systems approaches like the well-documented Brain Injury Family Intervention (BIFI). Little is known about the experience of providers who offer such interventions. OBJECTIVE: This mixed method study aims to demonstrate that a structured three-day training on the BIFI protocol improves providers' knowledge and confidence in working with survivors and families, and that this outcome is sustainable...
February 15, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28211649/insufficient-sleep-in-adolescents-causes-and-consequences
#6
Judith A Owens, Miriam R Weiss
Insufficient sleep poses an important and complicated set of health risks in the adolescent population. Not only is deficient sleep (defined as both sleep duration inadequate to meet sleep needs and sleep timing misaligned with the body's circadian rhythms) at epidemic levels in this population, but the contributing factors are both complex and numerous and there are a myriad of negative physical and mental health, safety and performance consequences. Causes of inadequate sleep identified in this population include internal biological processes such as the normal shift (delay) in circadian rhythm that occurs in association with puberty and a developmentally-based slowing of the "sleep drive", and external factors including extracurricular activities, excessive homework load, evening use of electronic media, caffeine intake and early school start times...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28211588/is-this-back-pain-killing-me-all-cause-and-cardiovascular-specific-mortality-in-older-danish-twins-with-spinal-pain
#7
M Fernandez, E Boyle, J Hartvigsen, M L Ferreira, K M Refshauge, C G Maher, K Christensen, J L Hopper, P H Ferreira
BACKGROUND: Few studies have examined the potentially reduced life expectancy associated with spinal pain (i.e. low back and neck pain) in an ageing population, particularly after controlling for familial factors, including genetics. METHODS: We investigated whether spinal pain increased the rate of all-cause and disease-specific cardiovascular mortality in older Danish twins aged ≥70 years. Data from 4391 participants collected at baseline were linked with the Danish Cause of Death Registry with the study ending on 31 December 2014...
February 17, 2017: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/28211557/associations-of-selected-lower-urinary-tract-symptoms-with-biographical-context-in-patients-of-a-day-hospital-for-neurotic-disorders
#8
Michał Skalski, Jerzy A Sobański, Tomasz Golabek, Agata Świerkosz, Katarzyna Klasa, Mikołaj Przydacz, Krzysztof Rutkowski, Edyta Dembińska, Michał Mielimąka, Katarzyna Cyranka, Piotr Chłosta, Dominika Dudek
OBJECTIVES: To assess the correlation of subjectively estimated biographical context and lower urinary tract symptoms reported by patients with neurotic and personality disorders. METHODS: This was a retrospective analysis of the biographical context of co-existence of urinary frequency and urinary incontinence reported by 3,929 patients in a day hospital for treatment of neurotic disorders. The symptom checklists KO "0" were completed by patients prior to any treatment...
December 23, 2016: Psychiatria Polska
https://www.readbyqxmd.com/read/28211464/molecular-basis-of-abhd5-lipolysis-activation
#9
Matthew A Sanders, Huamei Zhang, Ljiljana Mladenovic, Yan Yuan Tseng, James G Granneman
Alpha-beta hydrolase domain-containing 5 (ABHD5), the defective gene in human Chanarin-Dorfman syndrome, is a highly conserved regulator of adipose triglyceride lipase (ATGL)-mediated lipolysis that plays important roles in metabolism, tumor progression, viral replication, and skin barrier formation. The structural determinants of ABHD5 lipolysis activation, however, are unknown. We performed comparative evolutionary analysis and structural modeling of ABHD5 and ABHD4, a functionally distinct paralog that diverged from ABHD5 ~500 million years ago, to identify determinants of ABHD5 lipolysis activation...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28211264/genetics-diagnosis-and-clinical-features-of-congenital-hypodysfibrinogenaemia-a-systematic-literature-review-and-report-of-a-novel-mutation
#10
A Casini, T Brungs, C Lavenu-Bombled, R Vilar, M Neerman-Arbez, P de Moerloose
BACKGROUND: Hypodysfibrinogenaemia is a rare disease characterised by decreased levels of a dysfunctional fibrinogen. It shares features with both hypo- and dysfibrinogenaemia, although with specific molecular patterns and clinical phenotypes. OBJECTIVES: To better define the genetics, the diagnosis and the clinical features of hypodysfibrinogenaemia. PATIENTS/METHODS: A systematic literature search led to 167 records. After removal of duplicates, abstract screening and full-text reviewing, 56 molecular and/or clinical studies were analysed, including a novel FGB missense mutation in a woman with a mild bleeding phenotype...
February 16, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28211215/zkscan1-gene-and-its-related-circular-rna-circzkscan1-both-inhibit-hepatocellular-carcinoma-cell-growth-migration-and-invasion-but-through-different-signaling-pathways
#11
Zhicheng Yao, Jingyan Luo, Kunpeng Hu, Jizong Lin, He Huang, Qiangliang Wang, Peng Zhang, Zhiyong Xiong, Zejian Huang, Chonghua He, Bo Liu, Yang Yang
There is increasing evidence that circular RNAs (circRNAs) are involved in cancer development, but the regulation and function of human circRNAs remain largely unknown. In this study, we demonstrated that ZKSCAN1, a zinc finger family gene, is expressed in both linear and circular (circZKSCAN1) forms of RNA in human hepatocellular carcinoma (HCC) tissues and cell lines. Here, we analyzed a cohort of 102 patients and found that expression of both ZKSCAN1 mRNA and circZKSCAN1 was significantly lower (P<0.05) in the HCC samples compared with that in matched adjacent non-tumorous tissues by reverse transcription PCR (RT-PCR)...
February 16, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28210208/promoter-specific-expression-and-genomic-structure-of-iglon-family-genes-in-mouse
#12
Taavi Vanaveski, Katyayani Singh, Jane Narvik, Kattri-Liis Eskla, Tanel Visnapuu, Indrek Heinla, Mohan Jayaram, Jürgen Innos, Kersti Lilleväli, Mari-Anne Philips, Eero Vasar
IgLON family is composed of five genes: Lsamp, Ntm, Opcml, Negr1, and Iglon5; encoding for five highly homologous neural adhesion proteins that regulate neurite outgrowth and synapse formation. In the current study we performed in silico analysis revealing that Ntm and Opcml display similar genomic structure as previously reported for Lsamp, characterized by two alternative promotors 1a and 1b. Negr1 and Iglon5 transcripts have uniform 5' region, suggesting single promoter. Iglon5, the recently characterized family member, shares high level of conservation and structural qualities characteristic to IgLON family such as N-terminal signal peptide, three Ig domains, and GPI anchor binding site...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28209722/long-term-outcome-of-hematopoietic-stem-cell-transplantation-for-il2rg-jak3-scid-a-cohort-report
#13
Intan Juliana Abd Hamid, Mary A Slatter, Fiona McKendrick, Mark S Pearce, Andrew R Gennery
Hematopoietic stem cell transplantation (HSCT) cures the T-lymphocyte, B-lymphocyte and Natural Killer (NK) cell differentiation defect in IL2RG/JAK3 SCID. We evaluated long-term clinical features, longitudinal immunoreconstitution, donor chimerism and quality of life (QoL) of IL2RG/JAK3 SCID patients >2 years post-HSCT at our center. Clinical data were collated and patients/families answered PedsQL Generic Core Scale v4.0 questionnaires. We performed longitudinal analyses of CD3+, CD4+ naïve T-lymphocyte, CD19+ and NK cell numbers from pre-transplant until 15 years post-transplant...
February 16, 2017: Blood
https://www.readbyqxmd.com/read/28209701/patient-and-citizen-innovation-council-in-family-practice
#14
Ron T Garnett, Jane Bowman, Joanne Ganton
PROBLEM ADDRESSED: Patient engagement is integral to the Patient's Medical Home model. Patient-centred care is more than what happens in the examination room. Decisions around clinic processes, work flow, and initiative prioritization also warrant a patient perspective. OBJECTIVE OF PROGRAM: The Academic Family Medicine Clinic at the South Health Campus in Calgary, Alta, identified a need for patient and community advisory expertise regarding clinic initiatives and quality improvement...
February 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28209604/birth-size-risk-factors-across-life-and-cognition-in-late-life-protocol-of-prospective-longitudinal-follow-up-of-the-mynah-mysore-studies-of-natal-effects-on-ageing-and-health-cohort
#15
Murali Krishna, G Mohan Kumar, S R Veena, G V Krishnaveni, Kalyanaraman Kumaran, Samuel Christaprasad Karat, Patsy Coakley, Clive Osmond, John R M Copeland, Giriraj Chandak, Dattatray Bhat, Mathew Varghese, Martin Prince, Caroline Fall
INTRODUCTION: For late-life neurocognitive disorders, as for other late-life chronic diseases, much recent interest has focused on the possible relevance of Developmental Origins of Health and Disease (DOHaD). Programming by undernutrition in utero, followed by overnutrition in adult life may lead to an increased risk, possibly mediated through cardiovascular and metabolic pathways. This study will specifically examine, if lower birth weight is associated with poorer cognitive functioning in late life in a south Indian population...
February 16, 2017: BMJ Open
https://www.readbyqxmd.com/read/28209591/psychosocial-therapies-for-the-adjunctive-treatment-of-bipolar-disorder-in-adults-network-meta-analysis
#16
REVIEW
Mary Lou Chatterton, Emily Stockings, Michael Berk, Jan J Barendregt, Rob Carter, Cathrine Mihalopoulos
BackgroundFew trials have compared psychosocial therapies for people with bipolar affective disorder, and conventional meta-analyses provided limited comparisons between therapies.AimsTo combine evidence for the efficacy of psychosocial interventions used as adjunctive treatment of bipolar disorder in adults, using network meta-analysis (NMA).MethodSystematic review identified studies and NMA was used to pool data on relapse to mania or depression, medication adherence, and symptom scales for mania, depression and Global Assessment of Functioning (GAF)...
February 16, 2017: British Journal of Psychiatry: the Journal of Mental Science
https://www.readbyqxmd.com/read/28209530/slc39a6-promotes-aggressiveness-of-esophageal-carcinoma-cells-by-increasing-intracellular-levels-of-zinc-activating-phosphatidylinositol-3-kinase-signaling-and-upregulating-genes-that-regulate-metastasis
#17
Xinxin Cheng, Lixuan Wei, Xudong Huang, Jian Zheng, Mingming Shao, Ting Feng, Jun Li, Yaling Han, Wenle Tan, Wen Tan, Dongxin Lin, Chen Wu
BACKGROUND & AIMS: A common variant in the solute carrier family 39 member 6 gene (SLC39A6) has been associated with survival times of patients with esophageal squamous-cell carcinoma (ESCC). We investigated the function of SLC39A6 and ways in which this variant affects tumor progression by studying ESCC samples and cell lines. METHODS: SLC39A6 was expressed, or knocked down by expression of small hairpin RNAs, in ESCC cells (KYSE30 and KYSE450) and HeLa cells using lentiviral vectors; we analyzed effects on proliferation, colony formation, migration, and invasion in vitro...
February 13, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28209301/iswi-atp-dependent-remodeling-of-nucleoplasmic-%C3%AF-speckles-in-the-brain-of-drosophila-melanogaster
#18
Luca Lo Piccolo, Andrea Attardi, Rosa Bonaccorso, Lorenzo Li Greci, Giorgio Giurato, Antonia Maria Rita Ingrassia, Maria Cristina Onorati
Heterogeneous nuclear ribonucleoproteins (hnRNPs) belong to the RNA-binding proteins family. They are involved in processing heterogeneous nuclear RNAs (hnRNAs) into mature mRNAs. These proteins participate in every step of mRNA cycle, such as mRNA export, localization, translation, stability and alternative splicing. At least 14 major hnRNPs, which have structural and functional homologues in mammals, are expressed in Drosophila melanogaster. Until now, six of these hnRNPs are known to be nucleus-localized and associated with the long non-coding RNA (lncRNA) heat shock responsive ω (hsrω) in the omega speckle compartments (ω-speckles)...
December 22, 2016: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28209295/aluternative-regulation-for-gene-expression
#19
REVIEW
Ling-Ling Chen, Li Yang
Alu elements belong to the primate-specific SINE family of retrotransposons and constitute almost 11% of the human genome. Alus are transcribed by RNA polymerase (Pol) III and are inserted back into the genome with the help of autonomous LINE retroelements. Since Alu elements are preferentially located near to or within gene-rich regions, they can affect gene expression by distinct mechanisms of action at both DNA and RNA levels. In this review we focus on recent advances of how Alu elements are pervasively involved in gene regulation...
February 10, 2017: Trends in Cell Biology
https://www.readbyqxmd.com/read/28209168/the-impact-of-preterm-birth-37%C3%A2-weeks-on-parents-and-families-a-cross-sectional-study-in-the-2%C3%A2-years-after-discharge-from-the-neonatal-intensive-care-unit
#20
Ashwini Lakshmanan, Meghana Agni, Tracy Lieu, Eric Fleegler, Michele Kipke, Philippe S Friedlich, Marie C McCormick, Mandy B Belfort
BACKGROUND: Little is known about the quality of life of parents and families of preterm infants after discharge from the neonatal intensive care unit (NICU). Our aims were (1) to describe the impact of preterm birth on parents and families and (2) and to identify potentially modifiable determinants of parent and family impact. METHODS: We surveyed 196 parents of preterm infants <24 months corrected age in 3 specialty clinics (82% response rate). Primary outcomes were: (1) the Impact on Family Scale total score; and (2) the Infant Toddler Quality of Life parent emotion and (3) time limitations scores...
February 16, 2017: Health and Quality of Life Outcomes
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