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https://www.readbyqxmd.com/read/28351048/retinitis-pigmentosa-and-other-dystrophies
#1
Sarah Mrejen, Isabelle Audo, Sébastien Bonnel, José-Alain Sahel
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations characterized by progressive degeneration of rod and cone cells that affects predominantly peripheral visual fields. Macular edema may cause additional central visual acuity decrease. Cystoid macular edema (CME) is one of the few treatable causes of visual loss in RP. The prevalence of CME in RP has been found to be between 10 and 20% on fluorescein angiography-based studies, and as high as 49% on reports based on optical coherence tomography...
2017: Developments in Ophthalmology
https://www.readbyqxmd.com/read/28350950/spine-oncology-metastatic-spine-tumors
#2
David Choi, Mark Bilsky, Michael Fehlings, Charles Fisher, Ziya Gokaslan
Surgery for spinal metastases remains the mainstay treatment for pain, instability, and neurological deterioration due to tumor infiltration of the spine. However, several new therapies are emerging which may improve outcomes further, and in some cases even replace the need for surgery. We now have a better understanding of which factors influence survival and quality of life after surgery, and this underpins the development and application of new treatments, and assessment of outcome.Depending on genetic subtyping of tumors, novel immunotherapies and chemotherapies may be very effective in prolonging quality of life...
March 1, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28350945/intervertebral-disk-degeneration-and-repair
#3
James Dowdell, Mark Erwin, Theodoe Choma, Alexander Vaccaro, James Iatridis, Samuel K Cho
Intervertebral disk (IVD) degeneration is a natural progression of the aging process. Degenerative disk disease (DDD) is a pathologic condition associated with IVD that has been associated with chronic back pain. There are a variety of different mechanisms of DDD (genetic, mechanical, exposure). Each of these pathways leads to a final common result of unbalancing the anabolic and catabolic environment of the extracellular matrix in favor of catabolism. Attempts have been made to gain an understanding of the process of IVD degeneration with in Vitro studies...
March 1, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28350865/multi-drug-loaded-micelles-delivering-chemotherapy-and-targeted-therapies-directed-against-hsp90-and-the-pi3k-akt-mtor-pathway-in-prostate-cancer
#4
Bao Le, Ginny L Powers, Yu Tong Tam, Nicholas Schumacher, Rita L Malinowski, Laura Steinke, Glen Kwon, Paul C Marker
BACKGROUND: Advanced prostate cancers that are resistant to all current therapies create a need for new therapeutic strategies. One recent innovative approach to cancer therapy is the simultaneous use of multiple FDA-approved drugs to target multiple pathways. A challenge for this approach is caused by the different solubility requirements of each individual drug, resulting in the need for a drug vehicle that is non-toxic and capable of carrying multiple water-insoluble antitumor drugs...
2017: PloS One
https://www.readbyqxmd.com/read/28346697/car-t-cell-therapy-for-pancreatic-cancer
#5
REVIEW
Carl J DeSelm, Zachary E Tano, Anna M Varghese, Prasad S Adusumilli
Chimeric antigen receptor (CAR) T-cell therapy utilizes genetic engineering to redirect a patient's own T cells to target cancer cells. The remarkable results in hematological malignancies prompted investigating this approach in solid tumors such as pancreatic cancer. The complex tumor microenvironment, stromal hindrance in limiting immune response, and expression of checkpoint blockade on T cells pose hurdles. Herein, we summarize the opportunities, challenges, and state of knowledge in targeting pancreatic cancer with CAR T-cell therapy...
March 27, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28346436/detailed-comparison-of-retroviral-vectors-and-promoter-configurations-for-stable-and-high-transgene-expression-in-human-induced-pluripotent-stem-cells
#6
D Hoffmann, J W Schott, F K Geis, L Lange, F-J Müller, D Lenz, D Zychlinski, D Steinemann, M Morgan, T Moritz, A Schambach
Correction of patient-specific induced pluripotent stem cells (iPSC) upon gene delivery through retroviral vectors offers new treatment perspectives for monogenetic diseases. Gene-modified iPSC clones can be screened for safe integration sites and differentiated into transplantable cells of interest. However, the current bottleneck is epigenetic vector silencing. In order to identify the most suitable retroviral expression system in iPSC, we systematically compared vectors from different retroviral genera, different promoters and their combination with ubiquitous chromatin opening elements (UCOE), and several envelope pseudotypes...
March 27, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28346424/skp2-deficiency-restricts-the-progression-and-stem-cell-features-of-castration-resistant-prostate-cancer-by-destabilizing-twist
#7
D Ruan, J He, C-F Li, H-J Lee, J Liu, H-K Lin, C-H Chan
Castration-resistant prostate cancer (CRPC) remains a major clinical challenge because of the lack of effective targeted therapy for its treatment. The mechanism underlying how CRPC gains resistance toward hormone depletion and other forms of chemotherapy is poorly understood. Research on understanding the factors that drive these processes is desperately needed to generate new therapies to cure the disease. Here, we discovered a fundamental role of S-phase protein kinase 2 (Skp2) in the formation and progression of CRPC...
March 27, 2017: Oncogene
https://www.readbyqxmd.com/read/28346097/an-optimized-3d-coculture-assay-for-preclinical-testing-of-pro-and-antiangiogenic-drugs
#8
Daniela Unterleuthner, Nina Kramer, Karoline Pudelko, Alexandra Burian, Markus Hengstschläger, Helmut Dolznig
Angiogenesis is a promising target for anticancer therapies, but also for treating other diseases with pathologic vessel development. Targeting the vascular endothelial growth factor (VEGF) pathway did not proof as effective as expected due to emerging intrinsic resistance mechanisms, as well as stromal contributions leading to drug insensitivity. Therefore, alternative strategies affecting the interaction of endothelial cells (ECs) with other stromal cells seem to be more promising. Human preclinical in vitro angiogenesis models successfully recapitulating these interactions are rare, and two-dimensional (2D) cell cultures cannot mimic tissue architecture in vivo...
January 1, 2017: SLAS Discov
https://www.readbyqxmd.com/read/28345823/mutation-analysis-of-isocitrate-dehydrogenase-idh1-2-and-dna-methyltransferase-3a-dnmt3a-in-thai-patients-with-newly-diagnosed-acute-myeloid-leukemia
#9
Tanasan Sirirat, Suporn Chuncharunee, Pimjai Nipaluk, Teerapong Siriboonpiputtana, Takol Chareonsirisuthigul, Nittaya Limsuwannachot, Budsaba Rerkamnuaychoke
Acute myeloid leukemia (AML) is a clonal hematopoietic stem/progenitor cell disorder which features several genetic mutations. Recurrent genetic alterations identified in AML are recognized as causes of the disease, finding application as diagnostic, prognostic and monitoring markers, with potential use as targets for cancer therapy. Here, we performed a pyrosequencing technique to investigate common mutations of IDH1, IDH2 and DNMT3A in 81 newly diagnosed AML patients. The prevalences of IDH1, IDH2 and DNMT3A mutations were 6...
February 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28345786/a-de-novo-nonsense-mutation-in-zbtb18-plus-a-de-novo-15q13-3-microdeletion-in-a-6-year-old-female
#10
Nadja Ehmke, Sylvio Karge, Johannes Buchmann, Dirk Korinth, Denise Horn, Olaf Reis, Frank Häßler
ZBTB18 has been proposed as candidate gene for microcephaly and abnormalities of the corpus callosum based on overlapping microdeletions of 1q43q44. More recently, de novo mutations of ZBTB18 have been identified in patients with syndromic and non-syndromic intellectual disability. Heterozygous microdeletions of 15q13.3 encompassing the candidate gene CHRNA7 are associated with developmental delay or intellectual disability with speech problems, hypotonia, and seizures. They are characterized by significant variability and reduced penetrance...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28345263/nmr-solution-structure-of-the-red-subdomain-of-the-sleeping-beauty-transposase
#11
Tatiana A Konnova, Christopher M Singer, Irina V Nesmelova
DNA transposons can be employed for stable gene transfer in vertebrates. The Sleeping Beauty (SB) DNA transposon has been recently adapted for human application and is being evaluated in clinical trials, however its molecular mechanism is not clear. SB transposition is catalyzed by the transposase enzyme, which is a multi-domain protein containing the catalytic and the DNA-binding domains. The DNA-binding domain of SB transposase contains two structurally independent subdomains, PAI and RED. Recently, the structures of the catalytic domain and the PAI subdomain have been determined, however no structural information on the RED subdomain and its interactions with DNA has been available...
March 27, 2017: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/28345181/hbsag-kinetics-during-treatment-with-nucleos-t-ides-analogues-in-patients-with-hbeag-negative-chronic-hepatitis-b
#12
Athanasia Striki, Spilios Manolakopoulos, Melanie Deutsch, Anastasia Kourikou, George Kontos, Hariklia Kranidioti, Emilia Hadziyannis, George Papatheodoridis
BACKGROUND/AIMS: Serum HBsAg levels might be used as predictor of virological breakthrough or of sustained off-treatment virological response in HBeAg-negative chronic hepatitis B (CHB) patients. We evaluated the changes of HBsAg in those patients under nucleos(t)ide analogue(s) [NA(s)] therapy for ≥12 months. METHODS: We included 99 HBeAg-negative CHB patients treated with low-genetic barrier NA(s) for a mean of 66 months (lamivudine: 66, adefovir: 6, lamivudine plus adefovir: 11, telbivudine: 16) and 86 HBeAg-negative CHB patients under entecavir or tenofovir for a mean of 30 months as the comparison group...
March 26, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28345177/pharmacogenomics-of-off-target-adrs
#13
REVIEW
Sarah L Garon, Rebecca K Pavlos, Katie D White, Nancy J Brown, Cosby A Stone, Elizabeth J Phillips
Off-target adverse drug reactions (ADRs) are associated with significant morbidity and costs to the healthcare system and their occurrence is not predictable based on the known pharmacological action of the drug's therapeutic effect. Off-target ADRs may or may not be associated with immunological memory although they can manifest with a variety of shared clinical features including maculopapular exanthema, severe cutaneous adverse reactions (SCARs), angioedema, pruritus, and bronchospasm. Discovery of specific genes associated with a particular ADR phenotype is a foundational component of clinical translation into screening programs for their prevention...
March 26, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28344754/role-of-angiotensin-converting-enzyme-and-angiotensinogen-gene-polymorphisms-in-angiotensin-converting-enzyme-inhibitor-mediated-antiproteinuric-action-in-type-2-diabetic-nephropathy-patients
#14
Neerja Aggarwal, Pawan Kumar Kare, Parul Varshney, Om Prakash Kalra, Sri Venkata Madhu, Basu Dev Banerjee, Anil Yadav, Alpana Raizada, Ashok Kumar Tripathi
AIM: To investigate the role of genetic variants of angiotensin converting enzyme (ACE) and angiotensinogen (AGT) genes in the antiproteinuric efficacy of ACE inhibitor therapy in diabetic nephropathy (DN) patients. METHODS: In the present study, 270 type 2 diabetes mellitus patients with nephropathy were enrolled and treated with ACE inhibitor (ramipril) and followed at 6 mo for renal function and albumin excretion by estimating serum creatinine, end stage renal disease, and albumin/creatinine ratio (ACR) in urine...
March 15, 2017: World Journal of Diabetes
https://www.readbyqxmd.com/read/28344356/methylation-status-as-a-predictor-of-intravesical-bacillus-calmette-gu%C3%A3-rin-bcg-immunotherapy-response-of-high-grade-non-muscle-invasive-bladder-tumor
#15
Petr Husek, Jaroslav Pacovsky, Marcela Chmelarova, Miroslav Podhola, Milos Brodak
BACKGROUND AND AIMS: Genetic and epigenetic alterations play an important role in urothelial cancer pathogenesis. Deeper understanding of these processes could help us achieve better diagnosis and management of this life-threatening disease. The aim of this research was to evaluate the methylation status of selected tumor suppressor genes for predicting BCG response in patients with high grade non-muscle-invasive bladder tumor (NMIBC). MATERIALS AND METHODS: We retrospectively evaluated 82 patients with high grade non-muscle-invasive bladder tumor (stage Ta, T1, CIS) who had undergone BCG instillation therapy...
March 22, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28343935/blood-derived-products-in-pediatrics-new-laboratory-tools-for-optimizing-potency-assignment-and-reducing-side-effects
#16
REVIEW
Jean Amiral, Jerard Seghatchian
Neonates and children can develop rare bleeding disorders due to congenital/acquired coagulation Factor deficiencies, or allo-immune/autoimmune complications, or can undergo surgeries at high haemorrhagic risk. They then need specialized transfusion of blood components/products, or purified blood extracted products or recombinant proteins. Blood-derived therapies conventionally used for management of affected infants with genetic/acquired deficiencies, bleeding problems (coagulation Factor reduced or missing) or thrombotic disorders (reduced or missing anticoagulant proteins) pose some additional risks...
March 15, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28342824/development-of-car-t-cells-designed-to-improve-antitumor-efficacy-and-safety
#17
REVIEW
Janneke E Jaspers, Renier J Brentjens
Chimeric antigen receptor (CAR) T cell therapy has shown promising efficacy against hematologic malignancies. Antitumor activity of CAR T cells, however, needs to be improved to increase therapeutic efficacy in both hematologic and solid cancers. Limitations to overcome are 'on-target, off-tumor' toxicity, antigen escape, short CAR T cell persistence, little expansion, trafficking to the tumor and inhibition of T cell activity by an inhibitory tumor microenvironment. Here we will discuss how optimizing the design of CAR T cells through genetic engineering addresses these limitations and improves the antitumor efficacy of CAR T cell therapy in pre-clinical models...
March 22, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28342811/myeloid-sarcoma-presentation-diagnosis-and-treatment
#18
REVIEW
L Max Almond, Maria Charalampakis, Samuel J Ford, David Gourevitch, Anant Desai
Myeloid sarcoma is an extramedullary tumor of immature granulocytic cells. It is a rare condition, most often associated with acute myeloid leukemia (AML), although in some rare cases it may present in nonleukemic patients. It should therefore be considered as a differential diagnosis of any atypical cellular infiltrate. It may occur at any site, leading to very varied clinical presentations. Diagnosis is challenging and relies on a high index of suspicion as well as radiology, histology, immunophenotyping, and molecular analyses, which also are essential for risk stratification and treatment planning...
March 7, 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28342553/myelin-changes-in-alexander-disease
#19
U Gómez-Pinedo, M Duran-Moreno, S Sirerol-Piquer, J Matias-Guiu
INTRODUCTION: Alexander disease (AxD) is a type of leukodystrophy. Its pathological basis, along with myelin loss, is the appearance of Rosenthal bodies, which are cytoplasmic inclusions in astrocytes. Mutations in the gene coding for GFAP have been identified as a genetic basis for AxD. However, the mechanism by which these variants produce the disease is not understood. DEVELOPMENT: The most widespread hypothesis is that AxD develops when a gain of function mutation causes an increase in GFAP...
March 22, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28342377/live-cell-biosensing-platforms-using-graphene-based-hybrid-nanomaterials
#20
REVIEW
Tae-Hyung Kim, Donghyun Lee, Jeong-Woo Choi
A novel strategy to precisely detect or monitor various biomaterials in living cells poses paramount importance in understanding cellular processes. Graphene, a newly emerged two-dimensional carbon material, has been widely utilized for biosensors owing to its multifarious characteristics including mechanical, electrical, and optical properties (e.g. stability, conductivity, fluorescence quenching and photoluminescence). In addition, graphene derivatives and their innate characteristics, such as biocompatibility low cytotoxicity and water solubility have facilitated the use of graphene-based materials for live cell biosensing, wherein graphene is utilized as a core material by itself or in combination with other functional nanomaterials to load target-specific probes, fluorescent dyes, and other signaling molecules...
March 18, 2017: Biosensors & Bioelectronics
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