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https://www.readbyqxmd.com/read/28934791/a-practical-guide-for-treatment-of-pain-in-patients-with-systemic-mast-cell-activation-disease
#1
Stefan Wirz, Gerhard J Molderings
Systemic mast cell activation disease (MCAD, a subclass of mastocytosis), which has a prevalence of around 17% (at least in the German population), is characterized by accumulation of genetically altered dysfunctional mast cells with abnormal release of these cells' mediators. Since mast cells affect functions in potentially every organ system, often without causing abnormalities in routine laboratory or radiologic testing, this disease has to be considered routinely in the differential diagnosis of patients with chronic multisystem polymorbidity of a generally inflammatory and allergic theme...
September 2017: Pain Physician
https://www.readbyqxmd.com/read/28934695/type-1-diabetes-and-viral-infections-what-is-the-relationship
#2
REVIEW
Nicola Principi, Maria Giulia Berioli, Sonia Bianchini, Susanna Esposito
Type 1 diabetes (T1D) is the most common chronic metabolic disorder in children. Epigenetic and environmental factors capable of altering the penetrance of major susceptibility genes or capable of increasing the penetrance of low-risk genes are currently thought to play a role in triggering autoimmunity and T1D development. This paper discusses the current knowledge of the role of viruses in T1D. Most studies that have evaluated the potential association between viral infections and T1D have indicated that it is highly likely that some of these infectious agents play a role in T1D development...
September 8, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28934396/evaluation-of-shared-genetic-aetiology-between-osteoarthritis-and-bone-mineral-density-identifies-smad3-as-a-novel-osteoarthritis-risk-locus
#3
Sophie Hackinger, Katerina Trajanoska, Unnur Styrkarsdottir, Eleni Zengini, Julia Steinberg, Graham R S Ritchie, Konstantinos Hatzikotoulas, Arthur Gilly, Evangelos Evangelou, John P Kemp, David Evans, Thorvaldur Ingvarsson, Helgi Jonsson, Unnur Thorsteinsdottir, Kari Stefansson, Andrew W McCaskie, Roger A Brooks, Jeremy M Wilkinson, Fernando Rivadeneira, Eleftheria Zeggini
Osteoarthritis (OA) is a common complex disease with high public health burden and no curative therapy. High bone mineral density (BMD) is associated with an increased risk of developing OA, suggesting a shared underlying biology. Here, we performed the first systematic overlap analysis of OA and BMD on a genome wide scale. We used summary statistics from the GEFOS consortium for lumbar spine (n = 31,800) and femoral neck (n = 32,961) BMD, and from the arcOGEN consortium for three OA phenotypes (hip, ncases=3,498; knee, ncases=3,266; hip and/or knee, ncases=7,410; ncontrols=11,009)...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28934395/abnormal-polyamine-metabolism-is-unique-to-the-neuropathic-forms-of-mps-potential-for-biomarker-development-and-insight-into-pathogenesis
#4
Christian Hinderer, Nathan Katz, Jean-Pierre Louboutin, Peter Bell, Jakub Tolar, Paul J Orchard, Troy C Lund, Mohamad Nayal, Liwei Weng, Clementina Mesaros, Carolina F M de Souza, Amauri Dalla Corte, Roberto Giugliani, James M Wilson
The mucopolysaccharidoses (MPS) are rare genetic disorders marked by severe somatic and neurological symptoms. Development of treatments for the neurological manifestations of MPS has been hindered by the lack of objective measures of central nervous system disease burden. Identification of biomarkers for central nervous system disease in MPS patients would facilitate the evaluation of new agents in clinical trials. High throughput metabolite screening of cerebrospinal fluid (CSF) samples from a canine model of MPS I revealed a marked elevation of the polyamine, spermine, in affected animals, and gene therapy studies demonstrated that reduction of CSF spermine reflects correction of brain lesions in these animals...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28934123/the-innate-and-adaptive-immune-system-as-targets-for-biologic-therapies-in-inflammatory-bowel-disease
#5
REVIEW
Grainne Holleran, Loris Lopetuso, Valentina Petito, Cristina Graziani, Gianluca Ianiro, Deirdre McNamara, Antonio Gasbarrini, Franco Scaldaferri
Inflammatory bowel disease (IBD) is an immune-mediated inflammatory condition causing inflammation of gastrointestinal and systemic cells, with an increasing prevalence worldwide. Many factors are known to trigger and maintain inflammation in IBD including the innate and adaptive immune systems, genetics, the gastrointestinal microbiome and several environmental factors. Our knowledge of the involvement of the immune system in the pathophysiology of IBD has advanced rapidly over the last two decades, leading to the development of several immune-targeted treatments with a biological source, known as biologic agents...
September 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28933798/pharmacokinetics-of-tecarfarin-and-warfarin-in-patients-with-severe-chronic-kidney-disease
#6
Mark Midei, Detlef Albrecht, Mintu P Turakhia, Daniel Ries, Thomas Marbury, William Smith, Debbie Dillon, Peter G Milner, Mark G Midei
Chronic kidney disease (CKD) complicates warfarin anticoagulation partially through its effect on CYP2C9 activity. Tecarfarin, a novel vitamin K antagonist, is not metabolized by CYP2C9. To evaluate the effect of CKD on their metabolism, we measured PK parameters of warfarin and tecarfarin in subjects with and without CKD. CKD subjects with estimated glomerular filtration rate < 30 mL/min not on dialysis (n = 13) were matched to healthy volunteers (HVs) (n = 10). Each subject was randomized to either warfarin 10 mg or tecarfarin 30 mg and was later crossed over to the other drug...
September 21, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28933415/integrative-systems-biology-investigation-of-fabry-disease
#7
Marco Fernandes, Holger Husi
Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3). We performed a meta-analysis of peer-reviewed publications including high-throughput omics technologies including naïve patients and those undergoing enzyme replacement therapy (ERT). This study describes FD on a systems level using a systems biology approach, in which molecular data sourced from multi-omics studies is extracted from the literature and integrated as a whole in order to reveal the biochemical processes and molecular pathways potentially affected by the dysregulation of differentially expressed molecules...
November 15, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933412/genetic-substrate-reduction-therapy-a-promising-approach-for-lysosomal-storage-disorders
#8
REVIEW
Maria Francisca Coutinho, Juliana Inês Santos, Liliana Matos, Sandra Alves
Lysosomal storage diseases are a group of rare genetic disorders characterized by the accumulation of storage molecules in late endosomes/lysosomes. Most of them result from mutations in genes encoding for the catabolic enzymes that ensure intralysosomal digestion. Conventional therapeutic options include enzyme replacement therapy, an approach targeting the functional loss of the enzyme by injection of a recombinant one. Even though this is successful for some diseases, it is mostly effective for peripheral manifestations and has no impact on neuropathology...
November 9, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933368/biomarkers-and-imaging-findings-of-anderson-fabry-disease-what-we-know-now
#9
REVIEW
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus...
June 11, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28933359/a-prospective-treatment-option-for-lysosomal-storage-diseases-crispr-cas9-gene-editing-technology-for-mutation-correction-in-induced-pluripotent-stem-cells
#10
REVIEW
Chloe L Christensen, Francis Y M Choy
Ease of design, relatively low cost and a multitude of gene-altering capabilities have all led to the adoption of the sophisticated and yet simple gene editing system: clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9). The CRISPR/Cas9 system holds promise for the correction of deleterious mutations by taking advantage of the homology directed repair pathway and by supplying a correction template to the affected patient's cells. Currently, this technique is being applied in vitro in human-induced pluripotent stem cells (iPSCs) to correct a variety of severe genetic diseases, but has not as of yet been used in iPSCs derived from patients affected with a lysosomal storage disease (LSD)...
February 24, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28933358/substrate-deprivation-therapy-to-reduce-glycosaminoglycan-synthesis-improves-aspects-of-neurological-and-skeletal-pathology-in-mps-i-mice
#11
Ainslie L K Derrick-Roberts, Matilda R Jackson, Carmen E Pyragius, Sharon Byers
Mucopolysaccharidosis type I (MPS I) is the most common form of the MPS group of genetic diseases. MPS I results from a deficiency in the lysosomal enzyme α-l-iduronidase, leading to accumulation of undegraded heparan and dermatan sulphate glycosaminoglycan (GAG) chains in patient cells. MPS children suffer from multiple organ failure and die in their teens to early twenties. In particular, MPS I children also suffer from profound mental retardation and skeletal disease that restricts growth and movement. Neither brain nor skeletal disease is adequately treated by current therapy approaches...
February 23, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28933291/pharmacotranscriptomic-biomarkers-in-glucocorticoid-treatment-of-pediatric-inflammatory-bowel-disease
#12
Marianna Lucafò, Biljana Stankovic, Nikola Kotur, Alessia Di Silvestre, Stefano Martelossi, Alessandro Ventura, Branka Zukic, Sonya Pavlovic, Giuliana Decorti
Pharmacotranscriptomics aims to reach more accurate drug dosing based on interindividual transcriptome variations. Here, we provide an overview of RNA biomarkers that could predict the response to glucocorticoids (GCs), considered the standard for treatment of inflammatory bowel diseases (IBD), both in adult and pediatric patients. Although new biological agents are very effective in the IBD treatment, GCs are still widely used for induction of remission in IBD patients with moderate to severe disease. It is important to identify patients that are poor responders to GCs therapy, because suboptimal response is frequent and associated with various side effects...
September 20, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28932979/tuberculous-meningitis-in-children-and-adults-new-insights-for-an-ancient-foe
#13
REVIEW
Alyssa Mezochow, Kiran Thakur, Christopher Vinnard
PURPOSE OF REVIEW: Tuberculous meningitis is the most devastating manifestation of infection with Mycobacterium tuberculosis and represents a medical emergency. Approximately one half of tuberculous meningitis patients die or suffer severe neurologic disability. The goal of this review will be to review the pathogenic, clinical, and radiologic features of tuberculous meningitis and to highlight recent advancements in translational and clinical science. RECENT FINDINGS: Pharmacologic therapy includes combination anti-tuberculosis drug regimens and adjunctive corticosteroids...
September 20, 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28932874/-epilepsy-new-diagnostic-tools-old-drugs-therapeutic-consequences-of-epilepsy-genetics
#14
REVIEW
M Tacke, B A Neubauer, L Gerstl, T Roser, J Rémi, I Borggraefe
BACKGROUND: Recent advances in the field of epilepsy genetics have led to an increased fraction of patients with epilepsies where the etiology of the disease could be identified. Nevertheless, there is some criticism regarding the use of epilepsy genetics because in many cases the identification of a pathogenetic mutation does not lead to an adaptation of therapy or to an improved prognosis. In addition, the interpretation of genetic results might be complicated due to the considerable numbers of variants of unclear significance...
September 20, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28932650/gene-editing-gene-therapy-and-cell-xenotransplantation-cell-transplantation-across-species
#15
REVIEW
Nizar I Mourad, Pierre Gianello
PURPOSE OF REVIEW: Cell xenotransplantation has the potential to provide a safe, ethically acceptable, unlimited source for cell replacement therapies. This review focuses on genetic modification strategies aimed to overcome remaining hurdles standing in the way of clinical porcine islet transplantation and to develop neural cell xenotransplantation. RECENT FINDINGS: In addition to previously described genetic modifications aimed to mitigate hyperacute rejection, instant blood-mediated inflammatory reaction, and cell-mediated rejection, new data showing the possibility of increasing porcine islet insulin secretion by transgenesis is an interesting addition to the array of genetically modified pigs available for xenotransplantation...
2017: Current Transplantation Reports
https://www.readbyqxmd.com/read/28932649/hepatocyte-transplantation-cell-sheet-technology-for-liver-cell-transplantation
#16
REVIEW
Kohei Tatsumi, Teruo Okano
PURPOSE OF REVIEW: We will review the recent developments of cell sheet technology as a feasible tissue engineering approach. Specifically, we will focus on the technological advancement for engineering functional liver tissue using cell sheet technology, and the associated therapeutic effect of cell sheets for liver diseases, highlighting hemophilia. RECENT FINDINGS: Cell-based therapies using hepatocytes have recently been explored as a new therapeutic modality for patients with many forms of liver disease...
2017: Current Transplantation Reports
https://www.readbyqxmd.com/read/28932632/local-endothelial-complement-activation-reverses-endothelial-quiescence-enabling-t-cell-homing-and-tumor-control-during-t-cell-immunotherapy
#17
Andrea Facciabene, Francesco De Sanctis, Stefano Pierini, Edimara S Reis, Klara Balint, John Facciponte, Jens Rueter, Masahiro Kagabu, Paola Magotti, Evripidis Lanitis, Robert A DeAngelis, Ronald J Buckanovich, Wenchao C Song, John D Lambris, George Coukos
Cancer immunotherapy relies upon the ability of T cells to infiltrate tumors. The endothelium constitutes a barrier between the tumor and effector T cells, and the ability to manipulate local vascular permeability could be translated into effective immunotherapy. Here, we show that in the context of adoptive T cell therapy, antitumor T cells, delivered at high enough doses, can overcome the endothelial barrier and infiltrate tumors, a process that requires local production of C3, complement activation on tumor endothelium and release of C5a...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28932277/a-retrospective-review-of-the-multidisciplinary-management-of-medullary-thyroid-cancer-eligibility-for-systemic-therapy
#18
Georgia Geller, Janessa Laskin, Winson Y Cheung, Cheryl Ho
BACKGROUND: Medullary thyroid carcinoma (MTC) accounts for 1-2% of all thyroid cancers. The clinical course of metastatic disease can be indolent. Our aim was to characterize the natural history of disease to evaluate the true proportion of patients who would be eligible for the currently available systemic therapies. METHODS: The British Columbia Cancer Agency (BCCA) provides cancer care to a population of 4.6 million. A retrospective chart review was conducted of all patients with MTC referred to the BCCA from 1991 to 2013...
2017: Thyroid Research
https://www.readbyqxmd.com/read/28932200/is-increased-intracellular-calcium-in-red-blood-cells-a-common-component-in-the-molecular-mechanism-causing-anemia
#19
Laura Hertz, Rick Huisjes, Esther Llaudet-Planas, Polina Petkova-Kirova, Asya Makhro, Jens G Danielczok, Stephane Egee, Maria Del Mar Mañú-Pereira, Richard van Wijk, Joan-Lluis Vives Corrons, Anna Bogdanova, Lars Kaestner
For many hereditary disorders, although the underlying genetic mutation may be known, the molecular mechanism leading to hemolytic anemia is still unclear and needs further investigation. Previous studies revealed an increased intracellular Ca(2+) in red blood cells (RBCs) from patients with sickle cell disease, thalassemia, or Gardos channelopathy. Therefore we analyzed RBCs' Ca(2+) content from 35 patients with different types of anemia (16 patients with hereditary spherocytosis, 11 patients with hereditary xerocytosis, 5 patients with enzymopathies, and 3 patients with hemolytic anemia of unknown cause)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28932075/role-of-tissue-microenvironment-resident-adipocytes-in-colon-cancer
#20
EDITORIAL
Maria Tabuso, Shervanthi Homer-Vanniasinkam, Raghu Adya, Ramesh P Arasaradnam
Colorectal cancer (CRC) is a multifactorial disease characterized by several genetic and epigenetic alterations occurring in epithelial cells. It is increasingly recognized that tumour progression is also regulated by tumour microenvironment (TME). The bidirectional cross-talk between tumour resident adipocytes and cancer cells within TME has been proposed as active contributor to carcinogenesis. Tumour resident adipocytes exhibit an activated phenotype characterized by increased secretion of pro-tumorigenic factors (angiogenic/inflammatory/immune) which contribute to cancer cell proliferation, invasion, neoangiogenesis, evasion of immune surveillance and therapy resistance...
August 28, 2017: World Journal of Gastroenterology: WJG
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