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https://www.readbyqxmd.com/read/28650902/itpa-activity-in-adults-and-children-treated-with-or-without-azathioprine-relationship-between-tpmt-activity-thiopurine-metabolites-and-co-medications
#1
Boulieu Roselyne, Antony Citterio-Quentin, Mustapha Moulsma, Marie-Paule Gustin
BACKGROUND: The implication of inosine triphosphate pyrophosphatase (ITPA) on thiopurine drug response variability has been investigated but little data is available on its role on thiopurine metabolites. ITPA' ability to modify the thiopurine metabolite levels currently used to optimize azathioprine (AZA) therapy in relation to TPMT activity, the aim of this study is to investigate ITPA phenotype in a large population and to evaluate the relation between ITPA and TPMT activities and thiopurine metabolites...
June 22, 2017: Therapeutic Drug Monitoring
https://www.readbyqxmd.com/read/28650878/leber-hereditary-optic-neuropathy-bridging-the-translational-gap
#2
Neringa Jurkute, Patrick Yu-Wai-Man
PURPOSE OF REVIEW: Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) genetic disorder in the population. We address the clinical evolution of the disease, the secondary etiological factors that could contribute to visual loss, and the challenging task of developing effective treatments. RECENT FINDINGS: LHON is characterized by a preclinical phase that reflects retinal ganglion cell (RGC) dysfunction before rapid visual deterioration ensues...
June 24, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28650483/disease-model-discovery-from-3-328-gene-knockouts-by-the-international-mouse-phenotyping-consortium
#3
Terrence F Meehan, Nathalie Conte, David B West, Julius O Jacobsen, Jeremy Mason, Jonathan Warren, Chao-Kung Chen, Ilinca Tudose, Mike Relac, Peter Matthews, Natasha Karp, Luis Santos, Tanja Fiegel, Natalie Ring, Henrik Westerberg, Simon Greenaway, Duncan Sneddon, Hugh Morgan, Gemma F Codner, Michelle E Stewart, James Brown, Neil Horner, Melissa Haendel, Nicole Washington, Christopher J Mungall, Corey L Reynolds, Juan Gallegos, Valerie Gailus-Durner, Tania Sorg, Guillaume Pavlovic, Lynette R Bower, Mark Moore, Iva Morse, Xiang Gao, Glauco P Tocchini-Valentini, Yuichi Obata, Soo Young Cho, Je Kyung Seong, John Seavitt, Arthur L Beaudet, Mary E Dickinson, Yann Herault, Wolfgang Wurst, Martin Hrabe de Angelis, K C Kent Lloyd, Ann M Flenniken, Lauryl M J Nutter, Susan Newbigging, Colin McKerlie, Monica J Justice, Stephen A Murray, Karen L Svenson, Robert E Braun, Jacqueline K White, Allan Bradley, Paul Flicek, Sara Wells, William C Skarnes, David J Adams, Helen Parkinson, Ann-Marie Mallon, Steve D M Brown, Damian Smedley
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and pathobiological mechanisms of most genes. To address this challenge, the International Mouse Phenotyping Consortium is creating a genome- and phenome-wide catalog of gene function by characterizing new knockout-mouse strains across diverse biological systems through a broad set of standardized phenotyping tests...
June 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28650349/new-oral-antiplatelet-medications
#4
Travis Jeffords
New and more potent oral antiplatelet agents have shown better clinical outcomes over the last few years. This article reviews the latest oral antiplatelet therapies available, their indications and contraindications, genetic resistance, and major drug interactions.
June 22, 2017: Nurse Practitioner
https://www.readbyqxmd.com/read/28649893/radium-223-dichloride-for-the-treatment-of-castration-resistant-prostate-cancer-with-symptomatic-bone-metastases
#5
Nicholas J Vogelzang
Castration-resistant prostate cancer (CRPC) is associated with the development of bone metastases, increased mortality, and a reduction in the patient's quality of life (QOL). The management of metastatic CRPC (mCRPC) has rapidly evolved over the past decade, with a number of available therapeutic agents improving overall survival. Radium-223 dichloride (radium-223), the first targeted alpha therapy, improves survival accompanied by QOL benefits with a favorable safety profile. It is approved in over 40 countries for the treatment of patients with CRPC with symptomatic bone metastases and no known visceral metastatic disease...
June 26, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28649654/cell-state-plasticity-stem-cells-emt-and-the-generation-of-intra-tumoral-heterogeneity
#6
Geoffrey M Wahl, Benjamin T Spike
Cellular heterogeneity in cancer represents a significant challenge. In order to develop effective and lasting therapies, it is essential to understand the source of this heterogeneity, and its role in tumor progression and therapy resistance. Here, we consider not only genetic and epigenetic mechanisms, but also inflammation and cell state reprogramming in creating tumor heterogeneity. We discuss similarities between normal mammary epithelial developmental states and various breast cancer molecular sub-types, and the cells that are thought to propagate them...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28649647/moonshots-and-metastatic-disease-the-need-for-a-multi-faceted-approach-when-studying-atypical-responses
#7
REVIEW
Kristine De La Torre, Elly Cohen, Anne Loeser, Marc Hurlbert
Clinical research generally focuses on results involving a statistical mean with little attention in trial design to patients who respond considerably better or worse than average. Exploring the reasons underlying an "atypical response" will increase understanding of the mechanisms involved in cancer progression and treatment resistance, accelerate biomarker identification, and improve precision medicine by allowing clinicians to prospectively select optimal treatments. Based on our review, we suggest two ways to move this field forward...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28649464/light-in-diagnosis-therapy-and-surgery
#8
Seok Hyun Yun, Sheldon J J Kwok
Light and optical techniques have made profound impacts on modern medicine, with numerous lasers and optical devices being currently used in clinical practice to assess health and treat disease. Recent advances in biomedical optics have enabled increasingly sophisticated technologies - in particular those that integrate photonics with nanotechnology, biomaterials and genetic engineering. In this Review, we revisit the fundamentals of light-matter interactions, describe the applications of light in imaging, diagnosis, therapy and surgery, overview their clinical use, and discuss the promise of emerging light-based technologies...
2017: Nature biomedical engineering
https://www.readbyqxmd.com/read/28649135/synthetic-lethality-and-cancer
#9
REVIEW
Nigel J O'Neil, Melanie L Bailey, Philip Hieter
A synthetic lethal interaction occurs between two genes when the perturbation of either gene alone is viable but the perturbation of both genes simultaneously results in the loss of viability. Key to exploiting synthetic lethality in cancer treatment are the identification and the mechanistic characterization of robust synthetic lethal genetic interactions. Advances in next-generation sequencing technologies are enabling the identification of hundreds of tumour-specific mutations and alterations in gene expression that could be targeted by a synthetic lethality approach...
June 26, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/28648513/inheritable-and-sporadic-non-autoimmune-hyperthyroidism
#10
REVIEW
Carolina Ferraz, Ralf Paschke
Hyperthyroidism is a clinical state that results from high thyroid hormone levels which has multiple etiologies, manifestations, and potential therapies. Excluding the autoimmune Graves disease, autonomic adenomas account for the most import cause of non-autoimmune hyperthyroidism. Activating germline mutations of the TSH receptor are rare etiologies for hyperthyroidism. They can be inherited in an autosomal dominant manner (familial or hereditary, FNAH), or may occur sporadically as a de novo condition, also called: persistent sporadic congenital non-autoimmune hyperthyroidism (PSNAH)...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648487/development-of-novel-avenues-to-overcome-challenges-facing-car-t-cells
#11
REVIEW
Soyeon Kim, Edmund K Moon
There has been dramatic success in treating patients with adoptive transfer of autologous T cells genetically modified to express a chimeric antigen receptor redirecting them to the antigen CD19. Despite this success, the application of chimeric antigen receptor T-cell therapy in solid malignancies has encountered many challenges that need to be overcome if similar success across other cancers is to become a reality. These challenges can be classified into 6 categories: the heterogeneity of tumor cell clones and tumor-associated antigen expression; poor T-cell trafficking into the tumor site; poor T-cell survival and persistence; the presence of suppressive immune cells; the secretion of suppressive soluble factors in the tumor microenvironment; and the upregulation of T-cell intrinsic inhibitory pathways...
June 10, 2017: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/28648322/induction-of-type-2-diabetes-mellitus-with-antihypertensive-therapy-is-there-any-role-of-alpha-adducin-ace-and-irs-1-gene
#12
REVIEW
Sumeet Gupta, Vikas Jhawat
Hypertension and diabetes are related disorders that share common pathophysiological pathways and occur together. Although hypertension itself is a risk factor for developing diabetes, prolonged use of first-line antihypertensive therapy has also been reported to induce diabetes. Genetic polymorphism of genes affecting salt sensitivity and insulin resistance can have a role in antihypertensive therapy-induced diabetes. Polymorphism of the alpha adducin gene, angiotensin-converting enzyme gene, and insulin receptor substrate 1 gene has been found to be associated with new incident diabetes in hypertensive patients via salt sensitivity and insulin resistance...
May 2017: Value in Health Regional Issues
https://www.readbyqxmd.com/read/28648139/mutagenic-analysis-of-an-adeno-associated-virus-variant-capable-of-simultaneously-promoting-immune-resistance-and-robust-gene-delivery
#13
Yoojin Kim, Eunmi Kim, Seokmin Oh, Ye-Eun Yoon, Jae-Hyung Jang
In addition to the ability to boost gene delivery efficiency in many therapeutically relevant cells, the capability of circumventing neutralizing antibody (NAb) inactivation is a key prerequisite that gene carriers must fulfill for their extensive applications as therapeutic agents in many gene therapy trials, especially for cancer treatments. This study revealed that a genetically engineered adeno-associated viral (AAV) variant, AAVr3.45, inherently possesses dual beneficial properties as a gene carrier: i) efficiently delivering therapeutic genes to many clinically valuable cells (e...
June 24, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28647733/role-of-mesenchymal-stem-cells-in-bone-regenerative-medicine-what-is-the-evidence
#14
Ahmad Oryan, Amir Kamali, Ali Moshiri, Mohamadreza Baghaban Eslaminejad
Healing and regeneration of bone injuries, particularly those that are associated with large bone defects, are a complicated process. There is growing interest in the application of osteoinductive and osteogenic growth factors and mesenchymal stem cells (MSCs) in order to significantly improve bone repair and regeneration. MSCs are multipotent stromal stem cells that can be harvested from many different sources and differentiated into a variety of cell types, such as preosteogenic chondroblasts and osteoblasts...
June 24, 2017: Cells, Tissues, Organs
https://www.readbyqxmd.com/read/28647693/recognition-investigation-and-management-of-mitochondrial-disease
#15
REVIEW
James E Davison, Shamima Rahman
Mitochondria are dynamic organelles present in virtually all human cells that are needed for a multitude of cellular functions, including energy production, control of cell apoptosis and numerous biochemical catabolic and synthetic pathways that are critical for cellular health. Primary mitochondrial disorders are a group of greater than 200 single gene defects arising from two genomes (nuclear and mitochondrial) leading to mitochondrial dysfunction, and are associated with extremely heterogeneous phenotypes...
June 24, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28647401/human-papillomavirus-infection-increases-the-chemoradiation-response-of-esophageal-squamous-cell-carcinoma-based-on-p53-mutation
#16
Dakai Zhang, Wei Zhang, Wenzhi Liu, Yu Mao, Zhanzhao Fu, Jia Liu, Wei Huang, Zicheng Zhang, Dianzheng An, Baosheng Li
BACKGROUND AND PURPOSE: A retrospective study was carried out to analyze multiple prognostic predictors, including human papillomavirus (HPV) infection for chemoradiation treatment of esophageal squamous cell carcinoma (ESCC). MATERIALS AND METHODS: DNA extracted from a total of 192 patients treated with chemoradiation for locally advanced ESCC was examined to determine HPV status by polymerase chain reaction (PCR) and P53 gene mutation by genetic sequencing. The relationships between the chemoradiation response (CRR) and overall survival (OS) rate with HPV status and P53 gene mutation were analyzed...
June 21, 2017: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/28647110/success-of-tardive-electroconvulsive-therapy-sessions-after-loxapine-induced-malignant-syndrome-in-the-context-of-very-poor-metabolisation
#17
Juliette Descoeur, Laurent Philibert, Kevin Chalard, Jérôme Attal, Pierre Petit, Kada Klouche, Mathieu Olivier
We report the success of tardive electroconvulsive therapy in a case of loxapine malignant syndrome with catatonia. Loxapine and its metabolites were measured in biological samples by liquid chromatography coupled to tandem mass spectrometry. Genes were studied by sequencing and quantitative polymerase chain reaction (PCR). Plasmatic drug concentrations showed a supratherapeutic concentration of loxapine with a very low 8-hydroxyloxapine/loxapine ratio (range from 0.32 to 0.66, normal value>2 for 100mg) and a very long elimination half-life of loxapine (half-life>140h, normal value from 1 to 4hours)...
May 29, 2017: Thérapie
https://www.readbyqxmd.com/read/28647092/regulating-secretory-proteostasis-through-the-unfolded-protein-response-from-function-to-therapy
#18
REVIEW
Lars Plate, R Luke Wiseman
Imbalances in secretory proteostasis induced by genetic, environmental, or aging-related insults are pathologically associated with etiologically diverse protein misfolding diseases. To protect the secretory proteome from these insults, organisms evolved stress-responsive signaling pathways that regulate the composition and activity of biologic pathways involved in secretory proteostasis maintenance. The most prominent of these is the endoplasmic reticulum (ER) unfolded protein response (UPR), which functions to regulate ER proteostasis in response to ER stress...
June 21, 2017: Trends in Cell Biology
https://www.readbyqxmd.com/read/28646968/congenital-cytomegalovirus-who-when-what-with-and-why-to-treat
#19
Yinru Lim, Hermione Lyall
Congenital cytomegalovirus (CMV) is the commonest cause of congenital infection worldwide and the leading non-genetic cause of sensorineural hearing loss in children. Appropriate investigations and timely decision on treatment is required as studies have shown that treatment with antiviral therapy leads to improved hearing and neurodevelopmental outcomes in the long term when started in the first month of life. This paper outlines the epidemiology, investigations in the diagnosis of congenital CMV infection and current evidence surrounding treatment...
June 2017: Journal of Infection
https://www.readbyqxmd.com/read/28646744/systematic-biobanking-novel-imaging-techniques-and-advanced-molecular-analysis-for-precise-tumor-diagnosis-and-therapy-the-polish-mobit-project
#20
Jacek Niklinski, Adam Kretowski, Marcin Moniuszko, Joanna Reszec, Anna Michalska-Falkowska, Magdalena Niemira, Michal Ciborowski, Radoslaw Charkiewicz, Dorota Jurgilewicz, Miroslaw Kozlowski, Rodryg Ramlau, Cezary Piwkowski, Miroslaw Kwasniewski, Monika Kaczmarek, Andrzej Ciereszko, Tomasz Wasniewski, Robert Mroz, Wojciech Naumnik, Ewa Sierko, Magdalena Paczkowska, Joanna Kisluk, Anetta Sulewska, Adam Cybulski, Zenon Mariak, Boguslaw Kedra, Jacek Szamatowicz, Paweł Kurzawa, Lukasz Minarowski, Angelika Edyta Charkiewicz, Barbara Mroczko, Jolanta Malyszko, Christian Manegold, Lothar Pilz, Heike Allgayer, Mohammed L Abba, Hartmut Juhl, Frauke Koch
Personalized and precision medicine is gaining recognition due to the limitations by standard diagnosis and treatment; many areas of medicine, from cancer to psychiatry, are moving towards tailored and individualized treatment for patients based on their clinical characteristics and genetic signatures as well as novel imaging techniques. Advances in whole genome sequencing have led to identification of genes involved in a variety of diseases. Moreover, biomarkers indicating severity of disease or susceptibility to treatment are increasingly being characterized...
June 21, 2017: Advances in Medical Sciences
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