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ADA Deficiency

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https://www.readbyqxmd.com/read/28319446/good-laboratory-practice-preclinical-safety-studies-for-gsk2696273-mlv-vector-based-ex-vivo-gene-therapy-for-adenosine-deaminase-deficiency-severe-combined-immunodeficiency-in-nsg-mice
#1
Nicola Carriglio, Jan Klapwijk, Raisa Jofra Hernandez, Michela Vezzoli, Franck Chanut, Rhiannon Lowe, Draghici Elena, Melanie Nord, Paola Albertini, Patrizia Cristofori, Jane Richards, Hazel Staton, Jonathan Appleby, Alessandro Aiuti, Aisha V Sauer
GSK2696273 (autologous CD34+ cells transduced with retroviral vector that encodes for the human adenosine deaminase [ADA] enzyme) is a gamma-retroviral ex vivo gene therapy of bone marrow-derived CD34+ cells for the treatment of adenosine deaminase deficiency severe combined immunodeficiency (ADA-SCID). ADA-SCID is a severe monogenic disease characterized by immunologic and nonimmunologic symptoms. Bone-marrow transplant from a matched related donor is the treatment of choice, but it is available for only a small proportion of patients...
March 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28291840/a-wild-type-mouse-based-model-for-the-regression-of-inflammation-in-atherosclerosis
#2
Michael Peled, Hitoo Nishi, Ada Weinstock, Tessa J Barrett, Felix Zhou, Alexandra Quezada, Edward A Fisher
Atherosclerosis can be induced by the injection of a gain-of-function mutant of proprotein convertase subtilisin/kexin type 9 (PCSK9)-encoding adeno-associated viral vector (AAVmPCSK9), avoiding the need for knockout mice models, such as low-density lipoprotein receptor deficient mice. As regression of atherosclerosis is a crucial therapeutic goal, we aimed to establish a regression model based on AAVmPCSK9, which will eliminate the need for germ-line genetic modifications. C57BL6/J mice were injected with AAVmPCSK9 and were fed with Western diet for 16 weeks, followed by reversal of hyperlipidemia by a diet switch to chow and treatment with a microsomal triglyceride transfer protein inhibitor (MTPi)...
2017: PloS One
https://www.readbyqxmd.com/read/28283089/e-coli-mismatch-repair-enhances-at-to-gc-mutagenesis-caused-by-alkylating-agents
#3
Kota Nakano, Yoko Yamada, Eizo Takahashi, Sakae Arimoto, Keinosuke Okamoto, Kazuo Negishi, Tomoe Negishi
Alkylating agents are known to induce the formation of O(6)-alkylguanine (O(6)-alkG) and O(4)-alkylthymine (O(4)-alkT) in DNA. These lesions have been widely investigated as major sources of mutations. We previously showed that mismatch repair (MMR) facilitates the suppression of GC-to-AT mutations caused by O(6)-methylguanine more efficiently than the suppression of GC-to-AT mutations caused by O(6)-ethylguanine. However, the manner by which O(4)-alkyT lesions are repaired remains unclear. In the present study, we investigated the repair pathway involved in the repair of O(4)-alkT...
March 2017: Mutation Research
https://www.readbyqxmd.com/read/28280463/notes-on-human-trials-of-transcranial-direct-current-stimulation-between-1960-and-1998
#4
REVIEW
Zeinab Esmaeilpour, Pedro Schestatsky, Marom Bikson, André R Brunoni, Ada Pellegrinelli, Fernanda X Piovesan, Mariana M S A Santos, Renata B Menezes, Felipe Fregni
Background: Transcranial direct current stimulation (tDCS) is investigated to modulate neuronal function including cognitive neuroscience and neuropsychiatric therapies. While cases of human stimulation with rudimentary batteries date back more than 200 years, clinical trials with current controlled stimulation were published intermittently since the 1960s. The modern era of tDCS only started after 1998. Objectives: To review methods and outcomes of tDCS studies from old literature (between 1960 and 1998) with intention of providing new insight for ongoing tDCS trials and development of tDCS protocols especially for the purpose of treatment...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28262895/asymmetric-charge-separation-and-recombination-in-symmetrically-functionalized-%C3%AF-%C3%AF-hybrid-oligosilanes
#5
Jiawang Zhou, Carlton P Folster, Sravan K Surampudi, Daniel Jimenez, Rebekka S Klausen, Arthur E Bragg
The flexibility of σ-conjugated silanes presents new opportunities for manipulating charge generation, transport, and non-linear optical properties of materials. Recently we synthesized a series of acceptor-donor-acceptor (ADA) compounds in which a methylated oligosilane core (D) is flanked by electron-deficient cyanovinyl-substituted arenes (A). Based on a detailed characterization of the photophysics of ADA and donor-acceptor (DA) architectures using both steady state and ultrafast spectroscopic measurements we illustrate that asymmetric charge separation occurs directly following light absorption...
March 6, 2017: Dalton Transactions: An International Journal of Inorganic Chemistry
https://www.readbyqxmd.com/read/28261277/gene-therapy-for-primary-immune-deficiencies-a-canadian-perspective
#6
REVIEW
Xiaobai Xu, Chetankumar S Tailor, Eyal Grunebaum
The use of gene therapy (GT) for the treatment of primary immune deficiencies (PID) including severe combined immune deficiency (SCID) has progressed significantly in the recent years. In particular, long-term studies have shown that adenosine deaminase (ADA) gene delivery into ADA-deficient hematopoietic stem cells that are then transplanted into the patients corrects the abnormal function of the ADA enzyme, which leads to immune reconstitution. In contrast, the outcome was disappointing for patients with X-linked SCID, Wiskott-Aldrich syndrome and chronic granulomatous disease who received GT followed by autologous gene corrected transplantations, as many developed hematological malignancies...
2017: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/28194615/how-we-manage-adenosine-deaminase-deficient-severe-combined-immune-deficiency-ada-scid
#7
Donald B Kohn, H Bobby Gaspar
Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) accounts for 10-15% of cases of human SCID. From what was once a uniformly fatal disease, the prognosis for infants with ADA SCID has improved greatly based on the development of multiple therapeutic options, coupled with more frequent early diagnosis due to implementation of newborn screening for SCID. We review the various treatment approaches for ADA SCID including allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen-matched sibling or family member or from a matched unrelated donor or a haplo-identical donor, autologous HSCT with gene correction of the hematopoietic stem cells (gene therapy-GT), and enzyme replacement therapy (ERT) with polyethylene glycol-conjugated adenosine deaminase...
February 14, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28087698/inhibition-of-transient-receptor-potential-channel-mucolipin-1-trpml1-by-lysosomal-adenosine-involved-in-severe-combined-immunodeficiency-diseases
#8
Xi Zoë Zhong, Yuanjie Zou, Xue Sun, Gaofeng Dong, Qi Cao, Aditya Pandey, Jan K Rainey, Xiaojuan Zhu, Xian-Ping Dong
Impaired adenosine homeostasis has been associated with numerous human diseases. Lysosomes are referred to as the cellular recycling centers that generate adenosine by breaking down nucleic acids or ATP. Recent studies have suggested that lysosomal adenosine overload causes lysosome defects that phenocopy patients with mutations in transient receptor potential channel mucolipin-1 (TRPML1), a lysosomal Ca(2+) channel, suggesting that lysosomal adenosine overload may impair TRPML1 and then lead to subsequent lysosomal dysfunction...
February 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28074903/alterations-in-the-brain-adenosine-metabolism-cause-behavioral-and-neurological-impairment-in-ada-deficient-mice-and-patients
#9
Aisha V Sauer, Raisa Jofra Hernandez, Francesca Fumagalli, Veronica Bianchi, Pietro L Poliani, Chiara Dallatomasina, Elisa Riboni, Letterio S Politi, Antonella Tabucchi, Filippo Carlucci, Miriam Casiraghi, Nicola Carriglio, Manuela Cominelli, Carlo Alberto Forcellini, Federica Barzaghi, Francesca Ferrua, Fabio Minicucci, Stefania Medaglini, Letizia Leocani, Giancarlo la Marca, Lucia D Notarangelo, Chiara Azzari, Giancarlo Comi, Cristina Baldoli, Sabrina Canale, Maria Sessa, Patrizia D'Adamo, Alessandro Aiuti
Adenosine Deaminase (ADA) deficiency is an autosomal recessive variant of severe combined immunodeficiency (SCID) caused by systemic accumulation of ADA substrates. Neurological and behavioral abnormalities observed in ADA-SCID patients surviving after stem cell transplantation or gene therapy represent an unresolved enigma in the field. We found significant neurological and cognitive alterations in untreated ADA-SCID patients as well as in two groups of patients after short- and long-term enzyme replacement therapy with PEG-ADA...
January 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/27897410/androgen-deprivation-causes-selective-deficits-in-the-biomechanical-leg-muscle-function-of-men-during-walking-a-prospective-case-control-study
#10
Ada S Cheung, Hans Gray, Anthony G Schache, Rudolf Hoermann, Daryl Lim Joon, Jeffrey D Zajac, Marcus G Pandy, Mathis Grossmann
BACKGROUND: Although muscle mass declines with testosterone deficiency in men, previous studies of muscle function have not demonstrated consistent deficits, likely due to relatively insensitive methodology. Our objective was to determine the effects of testosterone deprivation on the biomechanical function of individual lower-limb muscles. METHODS: We conducted a 12-month prospective, observational case-control study of 34 men newly commencing androgen deprivation treatment (ADT) for prostate cancer and 29 age-matched prostate cancer controls...
February 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/27852853/coat-protein-regulation-by-ck2-cpip-hsp70-and-chip-is-required-for-potato-virus-a-replication-and-coat-protein-accumulation
#11
Andres Lõhmus, Anders Hafrén, Kristiina Mäkinen
We demonstrate here that both coat protein (CP) phosphorylation by protein kinase CK2 and a chaperone system formed by two heat shock proteins, CP-interacting protein (CPIP) and heat shock protein 70 (HSP70), are essential for potato virus A (PVA; genus Potyvirus) replication and that all these host proteins have the capacity to contribute to the level of PVA CP accumulation. An E3 ubiquitin ligase called carboxyl terminus Hsc70-interacting protein (CHIP), which may participate in the CPIP-HSP70-mediated CP degradation, is also needed for robust PVA gene expression...
February 1, 2017: Journal of Virology
https://www.readbyqxmd.com/read/27828617/dentists-knowledge-and-experience-regarding-leprosy-in-an-endemic-area-in-brazil
#12
Ronald Jefferson Martins, Maria Emília Oliveira Gomes Carloni, Suzely Adas Saliba Moimaz, Cléa Adas Saliba Garbin, Artênio José Ísper Garbin
This study aims to analyze the dental surgeons' knowledge about leprosy and its ways of transmission, clinical characteristics and treatment, besides analyzing their experience with respect to diagnostic suspicion and case referrals. The study population comprised 242 dental surgeons working in the public dental service of the city of Cuiabá, Mato Grosso, Brazil. A self-applicable questionnaire containing questions about the dental surgeon's profile was used, including his/her knowledge on leprosy, as well as his/her practices concerning the disease...
November 3, 2016: Revista do Instituto de Medicina Tropical de São Paulo
https://www.readbyqxmd.com/read/27775960/quality-of-sleep-and-coexistent-psychopathology-have-significant-impact-on-fatigue-burden-in-patients-with-inflammatory-bowel-disease
#13
Jana G Hashash, Claudia Ramos-Rivers, Ada Youk, Wai Kan Chiu, Kyle Duff, Miguel Regueiro, David G Binion, Ioannis Koutroubakis, Ashley Vachon, David Benhayon, Michael A Dunn, Eva M Szigethy
BACKGROUND: Fatigue is common in inflammatory bowel disease (IBD) patients and is associated with factors such as psychopathology, sleep quality, and disease activity. GOAL: To investigate the combined role of all the above factors in the burden of fatigue among IBD patients. STUDY: We conducted an observational study of adult patients enrolled in an IBD clinical research registry at a tertiary care clinic. Fatigue burden was defined by Item 1 of the Short-form IBD Questionnaire (SIBDQ), which is scored on a 7-point Likert scale...
October 21, 2016: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/27753880/ish-ada-01-critical-role-of-telomerase-in-regulating-cerebral-vascular-function-and-redox-environment
#14
Karima Ait-Aissa, Joseph Hockenberry, David Gutterman, Aron Geurts, Andreas Beyer
OBJECTIVE: Flow mediated dilation (FMD) is the most physiological relevant form of endothelial-mediated vasodilation. Our laboratory has previously shown that telomerase, a ribo-nucleoprotein that counteracts telomere shortening, has a protective effect on endothelial function under conditions of oxidative stress in the human microcirculation. In the presence of coronary artery disease, decreased telomerase activity contributes to a shift in the mediator of FMD from atheroprotective nitric oxide (NO) to pro-inflammatory and atherogenic hydrogen peroxide (H2O2)...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27665490/killer-cell-immunoglobulin-like-receptors-are-associated-with-common-variable-immune-deficiency-pathogenesis
#15
Yuge Wang, Tracy Hwangpo, Maureen P Martin, Nicolas Vince, Ying Qi, Richard J Reynolds, Devin Absher, Xiaojiang Gao, Carol A Ballinger, Peter D Burrows, T Prescott Atkinson, Elizabeth E Brown, Ada Elgavish, Cunren Liu, Mary Carrington, Harry W Schroeder
No abstract text is available yet for this article.
November 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27665459/the-role-of-adenosinergic-pathway-in-human-autoimmune-diseases
#16
REVIEW
Ke Dong, Zhao-Wei Gao, Hui-Zhong Zhang
Autoimmune diseases are characterized by the abnormal immune response against self-tissue, which are caused by the failure of nature immune homeostasis. Nature immune homeostasis represents the normal state of appropriate immune response to nonself-antigen and unresponsiveness to self-antigens. In normal situation, immune homeostasis is regulated by immunosuppressive signal and immunostimulating signal together. Accumulating data have demonstrated that the adenosinergic pathway played key roles in immune suppression and shield body from an excessive inflammatory response...
December 2016: Immunologic Research
https://www.readbyqxmd.com/read/27663683/human-adenosine-deaminases-ada1-and-ada2-bind-to-different-subsets-of-immune-cells
#17
Yuliia Kaljas, Chengqian Liu, Maksym Skaldin, Chengxiang Wu, Qing Zhou, Yuanan Lu, Ivona Aksentijevich, Andrey V Zavialov
At sites of inflammation and tumor growth, the local concentration of extracellular adenosine rapidly increases and plays a role in controlling the immune responses of nearby cells. Adenosine deaminases ADA1 and ADA2 (ADAs) decrease the level of adenosine by converting it to inosine, which serves as a negative feedback mechanism. Mutations in the genes encoding ADAs lead to impaired immune function, which suggests a crucial role for ADAs in immune system regulation. It is not clear why humans and other mammals possess two enzymes with adenosine deaminase activity...
February 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/27643439/angiotensin-receptors-and-%C3%AE-catenin-regulate-brain-endothelial-integrity-in-malaria
#18
Julio Gallego-Delgado, Upal Basu-Roy, Maureen Ty, Matilde Alique, Cristina Fernandez-Arias, Alexandru Movila, Pollyanna Gomes, Ada Weinstock, Wenyue Xu, Innocent Edagha, Samuel C Wassmer, Thomas Walther, Marta Ruiz-Ortega, Ana Rodriguez
Cerebral malaria is characterized by cytoadhesion of Plasmodium falciparum-infected red blood cells (Pf-iRBCs) to endothelial cells in the brain, disruption of the blood-brain barrier, and cerebral microhemorrhages. No available antimalarial drugs specifically target the endothelial disruptions underlying this complication, which is responsible for the majority of malaria-associated deaths. Here, we have demonstrated that ruptured Pf-iRBCs induce activation of β-catenin, leading to disruption of inter-endothelial cell junctions in human brain microvascular endothelial cells (HBMECs)...
October 3, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27643173/ish-ada-01-critical-role-of-telomerase-in-regulating-cerebral-vascular-function-and-redox-environment
#19
Karima Ait-Aissa, Joseph Hockenberry, David Gutterman, Aron Geurts, Andreas Beyer
OBJECTIVE: Flow mediated dilation (FMD) is the most physiological relevant form of endothelial-mediated vasodilation. Our laboratory has previously shown that telomerase, a ribo-nucleoprotein that counteracts telomere shortening, has a protective effect on endothelial function under conditions of oxidative stress in the human microcirculation. In the presence of coronary artery disease, decreased telomerase activity contributes to a shift in the mediator of FMD from atheroprotective nitric oxide (NO) to pro-inflammatory and atherogenic hydrogen peroxide (H2O2)...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27585197/does-deficiency-of-vitamin-d-increase-new-onset-atrial-fibrillation-after-coronary-artery-bypass-grafting-surgery
#20
Sadık Volkan Emren, Mustafa Aldemir, Fatih Ada
BACKGROUND: Deficiency of vitamin D is known to be effective in the development of hypertension, coronary artery disease, myocardial infarction, and stroke. Deficiency of vitamin D was also shown to be associated with new onset atrial fibrillation (AF) by activating the renin-angiotensin system. This study investigated whether or not levels of vitamin D are effective in the development of AF after coronary artery bypass grafting (CABG) surgery. METHODS: A total of 283 patients undergoing CABG were included in this study...
August 22, 2016: Heart Surgery Forum
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