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https://www.readbyqxmd.com/read/29778033/weight-and-the-vitamin-k-expoxide-reductase-1-genotype-primarily-contribute-to-the-warfarin-dosing-in-pediatric-patients-with-kawasaki-disease
#1
Zhouping Wang, Li Zhang, Ping Huang, Xiaoqiong Gu, Xiaofei Xie, Yanfei Wang, Wei Li, Qiyi Zeng
INTRODUCTION: Warfarin therapy is recommended in children with giant coronary artery aneurysms (GCAAs) after Kawasaki disease (KD). Large individual variability makes it difficult to predict the warfarin dose. Polymorphisms in the vitamin K expoxide reductase 1 (VKORC1) and cytochrome P4502C9 (CYP2C9) genes have been reported to influence the warfarin dose. We investigated the effects of the VKORC1 and CYP2C9 genotypes on the warfarin dose in pediatric patients with giant CAAs after KD...
May 8, 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29777763/effect-of-long-term-immunosuppressive-therapy-on-native-rat-liver-morphology-and-hepatocyte-apoptosis
#2
Aleksandra Wilk, Dagmara Szypulska-Koziarska, Karolina Kędzierska-Kapuza, Agnieszka Kolasa-Wołosiuk, Kamila Misiakiewicz-Has, Kazimierz Ciechanowski, Barbara Wiszniewska
A negative result of therapy based on immunosuppressive drugs is its leading to pathological alterations in the organ, including liver. Use of immunosuppressive medication may also lead to organized and genetically controlled cell death - apoptosis. The aim of this study was to examine histopathological changes in the livers of rats treated with immunosuppressive drugs, and also to determine the effects of different groups of immunosuppressive drugs on apoptosis activity in the hepatocytes of rat livers. The study was conducted on archival material obtained from Department of Nephrology, Transplantology and Internal Medicine of the Independent Public Clinical Hospital No...
May 16, 2018: Transplant Immunology
https://www.readbyqxmd.com/read/29777599/immense-random-colocalization-revealed-by-automated-high-content-image-cytometry-seriously-questions-fish-as-gold-standard-for-detecting-eml4-alk-fusion
#3
Gábor Smuk, Tamás Tornóczky, László Pajor, Ilse Chudoba, Béla Kajtár, Veronika Sárosi, Gábor Pajor
EML4-ALK gene fusion (inv2(p21p23)) of non-small cell lung cancer (NSCLC) predisposes to tyrosine kinase inhibitor treatment. One of the gold standard diagnostics is the dual color (DC) break-apart (BA) FISH technique, however, the unusual closeness of the involved genes has been suggested to raise likelihood of random co-localization (RCL) of signals. Although this is suspected to decrease sensitivity (often to as low as 40-70%), the exact level and effect of RCL has not been revealed thus far. Signal distances were analyzed to the 0...
May 19, 2018: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/29777447/integra-%C3%A2-dermal-regeneration-template-and-split-thickness-skin-grafting-a-therapy-approach-to-correct-aplasia-cutis-congenita-and-epidermolysis-bullosa-in-carmi-syndrome
#4
Julian Trah, Christina Has, Ingrid Hausser, Heinz Kutzner, Konrad Reinshagen, Ingo Königs
The association of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) and aplasia cutis congenita (ACC) was described by El Shafie et al. (J Pediatr Surg 14(4):446-449, 1979) and Carmi et al. (Am J Med Genet 11:319-328, 1982). Most patients die in the first weeks of life, and no curative treatment options are available so far. We describe a patient with JEB-PA and ACC (OMIM # 226730) who was treated for extensive areas of ACC by Integra® -Dermal Regeneration Template and split-thickness skin grafting (STSG)...
May 18, 2018: Dermatology and Therapy
https://www.readbyqxmd.com/read/29777302/emerging-strategies-in-brca-positive-pancreatic-cancer
#5
REVIEW
Adam Kowalewski, Łukasz Szylberg, Michał Saganek, Wojciech Napiontek, Paulina Antosik, Dariusz Grzanka
PURPOSE: We propose a treatment algorithm for PDAC with particular emphasis on BRCA1 or 2 mutation-positive patients. Pancreatic ductal adenocarcinoma (PDAC) is one of the deadliest diseases in the United States and Europe. BRCA1 and BRCA2 are among the most common of the known genetic mutations involved in familial PDAC. The optimal chemotherapy regimen to use for BRCA1 or 2 mutation carriers with PDAC is not yet established. As new treatment options emerge, algorithms must balance the need to give the best drugs first with ensuring that there are still beneficial options available for later...
May 18, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29777184/genotype-phenotype-links-in-frontotemporal-lobar-degeneration
#6
REVIEW
Sara Van Mossevelde, Sebastiaan Engelborghs, Julie van der Zee, Christine Van Broeckhoven
Frontotemporal lobar degeneration (FTLD) represents a group of neurodegenerative brain diseases with highly heterogeneous clinical, neuropathological and genetic characteristics. This high degree of heterogeneity results from the presence of several different underlying molecular disease processes; consequently, it is unlikely that all patients with FTLD will benefit from a single therapy. Therapeutic strategies for FTLD are currently being explored, and tools are urgently needed that enable the selection of patients who are the most likely to benefit from a particular therapy...
May 18, 2018: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29777181/genetic-variation-explains-residual-chd-risk-with-statin-therapy
#7
Alexandra Le Bras
No abstract text is available yet for this article.
May 17, 2018: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/29777164/mrna-treatment-produces-sustained-expression-of-enzymatically-active-human-adamts13-in-mice
#8
Susan Liu-Chen, Brendan Connolly, Lei Cheng, Romesh R Subramanian, Zhaozhong Han
Thrombotic thrombocytopenic purpura (TTP) is primarily caused by deficiency of ADAMTS13 within the blood stream due to either genetic defects or presence of inhibitory autoantibodies. Preclinical and clinical studies suggest that enzyme replacement therapy with recombinant human ADAMTS13 protein (rhADAMTS13) is effective and safe in treatment of TTP. However, frequent dosing would be required due to the relatively short half-life of rhADAMTS13 in circulation as well as the presence of inhibitory autoantibodies that collectively result in the poor pharmacological profile of rhADAMTS13...
May 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29777103/bacterial-encapsulins-as-orthogonal-compartments-for-mammalian-cell-engineering
#9
Felix Sigmund, Christoph Massner, Philipp Erdmann, Anja Stelzl, Hannes Rolbieski, Mitul Desai, Sarah Bricault, Tobias P Wörner, Joost Snijder, Arie Geerlof, Helmut Fuchs, Martin Hrabĕ de Angelis, Albert J R Heck, Alan Jasanoff, Vasilis Ntziachristos, Jürgen Plitzko, Gil G Westmeyer
We genetically controlled compartmentalization in eukaryotic cells by heterologous expression of bacterial encapsulin shell and cargo proteins to engineer enclosed enzymatic reactions and size-constrained metal biomineralization. The shell protein (EncA) from Myxococcus xanthus auto-assembles into nanocompartments inside mammalian cells to which sets of native (EncB,C,D) and engineered cargo proteins self-target enabling localized bimolecular fluorescence and enzyme complementation. Encapsulation of the enzyme tyrosinase leads to the confinement of toxic melanin production for robust detection via multispectral optoacoustic tomography (MSOT)...
May 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29777041/evolving-role-of-diet-in-the-pathogenesis-and-treatment-of-inflammatory-bowel-diseases
#10
REVIEW
Arie Levine, Rotem Sigall Boneh, Eytan Wine
Recent advances in basic and clinical science over the last 3 years have dramatically altered our appreciation of the role of diet in inflammatory bowel diseases (IBD). The marked increase in incidence of these diseases along with the important role of non-genetic susceptibility among patients with IBD has highlighted that these diseases have a strong environmental component. Progress in the field of microbiome and IBD has demonstrated that microbiome appears to play an important role in pathogenesis, and that diet may in turn impact the composition and functionality of the microbiome...
May 18, 2018: Gut
https://www.readbyqxmd.com/read/29776386/impact-of-vkorc1-cyp4f2-and-nqo1-gene-variants-on-warfarin-dose-requirement-in-han-chinese-patients-with-catheter-ablation-for-atrial-fibrillation
#11
Jiao Li, Wenlong Yang, Zhonghui Xie, Kun Yu, Yuhua Chen, Kaijun Cui
BACKGROUND: The anticoagulation of atrial fibrillation catheter ablation during the perioperative stage does matter and should be treated with discretion. We aimed to assess impact of three important genes participating in vitamin K cycle (i.e. VKORC1 rs9923231, CYP4F2 rs2108622 and NQO1 rs1800566) on the daily stable warfarin dose requirement in Sichuan Han Chinese patients with catheter ablation of atrial fibrillation. METHODS: A total of 222 atrial fibrillation patients taking stable warfarin therapy after catheter ablation operation were enrolled in this study...
May 18, 2018: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29776328/recent-progress-and-considerations-for-aav-gene-therapies-targeting-the-central-nervous-system
#12
REVIEW
Erik Allen Lykken, Charles Shyng, Reginald James Edwards, Alejandra Rozenberg, Steven James Gray
BACKGROUND: Neurodevelopmental disorders, as a class of diseases, have been particularly difficult to treat even when the underlying cause(s), such as genetic alterations, are understood. What treatments do exist are generally not curative and instead seek to improve quality of life for affected individuals. The advent of gene therapy via gene replacement offers the potential for transformative therapies to slow or even stop disease progression for current patients and perhaps minimize or prevent the appearance of symptoms in future patients...
May 18, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29775551/pharmacogenetic-associations-with-cytochrome-p450-in-antiretroviral-therapy-what-does-the-future-hold
#13
Gabriel Stillemans, Leila Belkhir, Dennis A Hesselink, Vincent Haufroid, Laure Elens
Several antiretroviral drugs used to treat infection with the Human Immunodeficiency Virus (HIV) are substrates of enzymes belonging to the cytochrome P450 (CYP) superfamily, which are polymorphically expressed. It may therefore be useful to take into account the genetic variation in these enzymes to predict the likelihood of anti-HIV treatment success, toxicity and the potential for drug-drug interactions. Areas covered: In this manuscript, the authors discuss the current state of knowledge regarding pharmacogenetic associations between CYP and all major antiretrovirals, as well as the importance of these associations...
May 18, 2018: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/29774452/lymphedema-following-cancer-therapy-overview-and-options
#14
Michael Bernas, Saskia R J Thiadens, Betty Smoot, Jane M Armer, Paula Stewart, Jay Granzow
This summit focusing on lymphedema following cancer therapy was held during the 7th International Symposium on Cancer Metastasis through the Lymphovascular System. It was unique for the inclusion of patients with lymphedema joining physicians, therapists, healthcare professionals, and researchers to highlight what is known and more importantly what is unknown about the current state of research and treatment in the United States. The session opened with an introduction to lymphedema and then explored the incidence of multiple cancer-related lymphedemas, imaging tools and techniques useful for the diagnosis of lymphatic system abnormalities, and the new findings concerning the genetics of cancer-related lymphedema...
May 17, 2018: Clinical & Experimental Metastasis
https://www.readbyqxmd.com/read/29774393/developmental-origin-of-the-cardiac-conduction-system-insight-from-lineage-tracing
#15
Rajiv A Mohan, Bastiaan J Boukens, Vincent M Christoffels
The components of the cardiac conduction system (CCS) generate and propagate the electrical impulse that initiates cardiac contraction. These interconnected components share properties, such as automaticity, that set them apart from the working myocardium of the atria and ventricles. A variety of tools and approaches have been used to define the CCS lineages. These include genetic labeling of cells expressing lineage markers and fate mapping of dye labeled cells, which we will discuss in this review. We conclude that there is not a single CCS lineage, but instead early cell fate decisions segregate the lineages of the CCS components while they remain interconnected...
May 17, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29774303/myotonia-permanens-with-nav1-4-g1306e-displays-varied-phenotypes-during-course-of-life
#16
Frank Lehmann-Horn, Adele D'Amico, Enrico Bertini, Mauro Lomonaco, Luciano Merlini, Kevin R Nelson, Heike Philippi, Gabriele Siciliano, Frank Spaans, Karin Jurkat-Rott
Introduction: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. Methods: Clinical neurophysiology and genetic analysis were performed. Using existing functional expression data we determined the sodium window by integration. Results: In 10 unrelated patients who were believed to have epilepsy, respiratory disease or Schwartz-Jampel syndrome, we made the same prima facie diagnosis and detected the same heterologous Nav1...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29774112/rare-genetic-heterogeneity-within-single-tumor-discovered-for-the-first-time-in-colorectal-liver-metastases-after-liver-resection
#17
Mylène Sebagh, Nelly Bosselut, Alexandre Dos Santos, Marc-Antoine Allard, Aldrick Ruiz, Raphaël Saffroy, Daniel Cherqui, Eric Vibert, Denis Castaing, René Adam, Antonio Sa Cunha, Antoinette Lemoine
Effective individualized treatment of patients with colorectal liver metastases (CLM) requires tumor genotyping, usually based on the analysis of one single sample per patient. Therapy failure may partially be explained by sampling errors and/or intratumoral genetic heterogeneity. We aimed to demonstrate intratumoral genetic heterogeneity in CLM and enable pathologists to select tumor tissue for genotyping. All the tumors of 86 patients who underwent liver resection for a single CLM were reviewed. Of the 86 patients, 66 patients received chemotherapy and 20 patients did not receive chemotherapy before liver resection...
April 24, 2018: Oncotarget
https://www.readbyqxmd.com/read/29774075/plectin-targeted-liposomes-enhance-the-therapeutic-efficacy-of-a-parp-inhibitor-in-the-treatment-of-ovarian-cancer
#18
Siva Sai Krishna Dasa, Galina Diakova, Ryo Suzuki, Anne M Mills, Michael F Gutknecht, Alexander L Klibanov, Jill K Slack-Davis, Kimberly A Kelly
Advances in genomics and proteomics drive precision medicine by providing actionable genetic alterations and molecularly targeted therapies, respectively. While genomic analysis and medicinal chemistry have advanced patient stratification with treatments tailored to the genetic profile of a patient's tumor, proteomic targeting has the potential to enhance the therapeutic index of drugs like poly(ADP-ribose) polymerase (PARP) inhibitors. PARP inhibitors in breast and ovarian cancer patients with BRCA1/2 mutations have shown promise...
2018: Theranostics
https://www.readbyqxmd.com/read/29774064/tumour-homing-chimeric-polypeptide-conjugated-polypyrrole-nanoparticles-for-imaging-guided-synergistic-photothermal-and-chemical-therapy-of-cancer
#19
Mengmeng Sun, Jianwen Guo, Hanjun Hao, Tong Tong, Kun Wang, Weiping Gao
Near-infrared (NIR)-absorbing conjugated polymer nanoparticles are interesting for imaging-guided combination therapy, especially for synergistic photothermal therapy and chemotherapy; however, most of them target tumours passively through the enhanced permeability and retention (EPR) effect, leading to low utilization efficiency. To address this problem, we report an active tumour-targeting strategy of tumour-homing chimeric polypeptide-conjugated NIR-absorbing conjugated-polymer nanoparticles as a new class of drug nanocarriers for imaging-guided combination therapy of cancer...
2018: Theranostics
https://www.readbyqxmd.com/read/29773951/the-role-of-neuroinflammation-and-neurovascular-dysfunction-in-major-depressive-disorder
#20
REVIEW
Sang Won Jeon, Yong-Ku Kim
Although depression has generally been explained with monoamine theory, it is far more multifactorial, and therapies that address the disease's pathway have not been developed. In this context, an understanding of neuroinflammation and neurovascular dysfunction would enable a more comprehensive approach to depression. Inflammation is in a sense a type of allostatic load involving the immune, endocrine, and nervous systems. Neuroinflammation is involved in the pathophysiology of depression by increasing proinflammatory cytokines, activating the hypothalamus-pituitary-adrenal axis, increasing glucocorticoid resistance, and affecting serotonin synthesis and metabolism, neuronal apoptosis and neurogenesis, and neuroplasticity...
2018: Journal of Inflammation Research
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