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Orphan disease

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https://www.readbyqxmd.com/read/28430123/functional-analysis-of-the-rs774872314-rs116171003-rs200231898-and-rs201107751-polymorphisms-in-the-human-ror%C3%AE-t-gene-promoter-region
#1
Marcin Ratajewski, Marcin Słomka, Kaja Karaś, Marta Sobalska-Kwapis, Małgorzata Korycka-Machała, Anna Sałkowska, Jarosław Dziadek, Dominik Strapagiel, Jarosław Dastych
RAR-related orphan receptor gamma RORγT, a tissue-specific isoform of the RORC gene, plays a critical role in the development of naive CD4+ cells into fully differentiated Th17 lymphocytes. Th17 lymphocytes are part of the host defense against numerous pathogens and are also involved in the pathogenesis of inflammatory diseases, including autoimmune disorders. In this study, we functionally examined four naturally occurring polymorphisms located within one of the previously identified GC-boxes in the promoter region of the gene...
April 21, 2017: Genes
https://www.readbyqxmd.com/read/28427466/determinants-of-orphan-drugs-prices-in-france-a-regression-analysis
#2
Daria Korchagina, Aurelie Millier, Anne-Lise Vataire, Samuel Aballea, Bruno Falissard, Mondher Toumi
BACKGROUND: The introduction of the orphan drug legislation led to the increase in the number of available orphan drugs, but the access to them is often limited due to the high price. Social preferences regarding funding orphan drugs as well as the criteria taken into consideration while setting the price remain unclear. The study aimed at identifying the determinant of orphan drug prices in France using a regression analysis. METHODS: All drugs with a valid orphan designation at the moment of launch for which the price was available in France were included in the analysis...
April 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28426677/information-ranks-highest-expectations-of-female-adolescents-with-a-rare-genital-malformation-towards-health-care-services
#3
Elisabeth Simoes, Alexander N Sokolov, Andrea Kronenthaler, Hanna Hiltner, Norbert Schaeffeler, Katharina Rall, Esther Ueding, Monika A Rieger, Anke Wagner, Leonie S Poesch, Marie-Christin Baur, Judith Kittel, Sara Y Brucker
BACKGROUND: Access to highly specialized health care services and support to meet the patient's specific needs is critical for health outcome, especially during age-related transitions within the health care system such as with adolescents entering adult medicine. Being affected by an orphan disease complicates the situation in several important respects. Long distances to dedicated institutions and scarcity of knowledge, even among medical doctors, may present major obstacles for proper access to health care services and health chances...
2017: PloS One
https://www.readbyqxmd.com/read/28426455/digoxin-attenuates-murine-experimental-colitis-by-downregulating-th17-related-cytokines
#4
Shinya Tani, Ryosuke Takano, Satoshi Tamura, Shinji Oishi, Moriya Iwaizumi, Yasushi Hamaya, Kosuke Takagaki, Toshi Nagata, Shintaro Seto, Toshinobu Horii, Isao Kosugi, Toshihide Iwashita, Satoshi Osawa, Takahisa Furuta, Hiroaki Miyajima, Ken Sugimoto
BACKGROUND: Digoxin, a cardiac glycoside used for the treatment of heart failure, was reported to inhibit the retinoid-related orphan receptor gamma t (RORγt) and attenuate the severity of experimental autoimmune encephalomyelitis and arthritis in mice. However, the effects of digoxin in a mice model of inflammatory bowel disease have not been elucidated. METHODS: Colitis was induced in severe combined immunodeficiency mice by adoptive transfer of CD45RB CD4 T cells...
May 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28425521/chemical-genomic-analysis-of-gpr35-signaling
#5
Heidi Haibei Hu, Huayun Deng, Shizhang Ling, Haiyan Sun, Terry Kenakin, Xinmiao Liang, Ye Fang
GPR35, a family A orphan G protein-coupled receptor, has been implicated in inflammatory, neurological, and cardiovascular diseases. However, not much is known about the signaling and functions of GPR35. We performed a label-free kinome short hairpin RNA screen and identified a putative signaling network of GPR35 in HT-29 cells, some of which was validated using gene expression, biochemical and cellular assays. The results showed that GPR35 induced hypoxia-inducible factor 1α, and was involved in synaptic transmission, sensory perception, the immune system, and morphogenetic processes...
April 20, 2017: Integrative Biology: Quantitative Biosciences From Nano to Macro
https://www.readbyqxmd.com/read/28424671/functional-characterization-and-conditional-regulation-of-the-type-vi-secretion-system-in-vibrio-fluvialis
#6
Yuanming Huang, Pengcheng Du, Meng Zhao, Wei Liu, Yu Du, Baowei Diao, Jie Li, Biao Kan, Weili Liang
Vibrio fluvialis is an emerging foodborne pathogen of increasing public health concern. The mechanism(s) that contribute to the bacterial survival and disease are still poorly understood. In other bacterial species, type VI secretion systems (T6SSs) are known to contribute to bacterial pathogenicity by exerting toxic effects on host cells or competing bacterial species. In this study, we characterized the genetic organization and prevalence of two T6SS gene clusters (VflT6SS1 and VflT6SS2) in V. fluvialis. VflT6SS2 harbors three "orphan" hcp-vgrG modules and was more prevalent than VflT6SS1 in our isolates...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28423922/activation-of-gpr15-and-its-involvement-in-the-biological-effects-of-smoking
#7
Sulev Kõks, Gea Kõks
Smoking is one of the most significant modifiable environmental risk factors for many diseases. Smoking causes excessive mortality worldwide. Despite decades of long research, there has not been a clear understanding regarding the molecular mechanism that makes smoking harmful to health. Some recent studies have found that smoking influences most significantly the expression and methylation of GPR15. GPR15 is an orphan receptor that is involved in the regulation of the innate immunity and the T-cell trafficking in the intestinal epithelium...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28418758/inhaled-heparin-therapeutic-efficacy-and-recent-formulations
#8
Ayca Yildiz-Pekoz, Yildiz Ozsoy
Heparin is well known for its anticoagulant and anti-inflammatory properties. Inhaled heparin regimens are increasingly being used to manage lung disease. It has been used to treat cystic fibrosis, thromboembolism, and pulmonary fibrosis, as well as bronchial asthma and asthma-induced airway hypersensitivity. Several preclinical studies attained some useful effects of heparin-administered, parenterally and through inhalation, treatment of lung disease. Besides, recent clinical trials suggest that inhaled heparin for lung diseases is beneficial and safe, but such data remain to be limited...
April 18, 2017: Journal of Aerosol Medicine and Pulmonary Drug Delivery
https://www.readbyqxmd.com/read/28416775/volatile-organic-compounds-in-gastrointestinal-stromal-tumour-tissue-originating-from-patient-derived-xenografts
#9
Renata Wawrzyniak, Agnieszka Woźniak, Yemarshet Gebreyohannes, Bartosz Dykcik, Patrick Schöffski, Michal Markuszewski
Gastrointestinal stromal tumours (GIST) are the most common mesenchymal neoplasms of the gastrointestinal tract, localized mainly in the stomach or small intestine. The metabolomic signature of GIST signature associated with various mutations in KIT gene remains undiscovered and unexplored. The main aim of this pilot study was to determine and compare metabolomic profiles in GIST xenograft models with different genetic background. Metabolomic profiling using gas chromatography coupled with mass spectrometry followed by both univariate and multivariate statistical analyses was applied to select metabolites which differentiate the GIST models studied...
April 18, 2017: Journal of Breath Research
https://www.readbyqxmd.com/read/28412971/appraising-the-holistic-value-of-lenvatinib-for-radio-iodine-refractory-differentiated-thyroid-cancer-a-multi-country-study-applying-pragmatic-mcda
#10
Monika Wagner, Hanane Khoury, Liga Bennetts, Patrizia Berto, Jenifer Ehreth, Xavier Badia, Mireille Goetghebeur
BACKGROUND: The objective of the study was to reveal through pragmatic MCDA (EVIDEM) the contribution of a broad range of criteria to the value of the orphan drug lenvatinib for radioiodine refractory differentiated thyroid cancer (RR-DTC) in country-specific contexts. METHODS: The study was designed to enable comprehensive appraisal (12 quantitative, 7 qualitative criteria) in the current disease context (watchful waiting, sorafenib) of France, Italy and Spain...
April 17, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28412959/opportunities-for-developing-therapies-for-rare-genetic-diseases-focus-on-gain-of-function-and-allostery
#11
Binbin Chen, Russ B Altman
BACKGROUND: Advances in next generation sequencing technologies have revolutionized our ability to discover the causes of rare genetic diseases. However, developing treatments for these diseases remains challenging. In fact, when we systematically analyze the US FDA orphan drug list, we find that only 8% of rare diseases have an FDA-designated drug. Our approach leverages three primary insights: first, diseases with gain-of-function mutations and late onset are more likely to have drug options; second, drugs are more often inhibitors than activators; and third, some disease-causing proteins can be rescued by allosteric activators in diseases due to loss-of-function mutations...
April 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28411843/the-molecular-revolution-in-cutaneous-biology-emerging-landscape-in-genomic-dermatology-new-mechanistic-ideas-gene-editing-and-therapeutic-breakthroughs
#12
REVIEW
Matthias Titeux, Araksya Izmiryan, Alain Hovnanian
Stunning technological advances in genomics have led to spectacular breakthroughs in the understanding of the underlying defects, biological pathways and therapeutic targets of skin diseases leading to new therapeutic interventions. Next-generation sequencing has revolutionized the identification of disease-causing genes and has a profound impact in deciphering gene and protein signatures in rare and frequent skin diseases. Gene addition strategies have shown efficacy in junctional EB and in recessive dystrophic EB (RDEB)...
May 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28410469/18%C3%AE-glycyrrhetinic-acid-the-major-bioactive-component-of-glycyrrhizae-radix-attenuates-airway-inflammation-by-modulating-th2-cytokines-gata-3-stat6-and-foxp3-transcription-factors-in-an-asthmatic-mouse-model
#13
Seung-Hyung Kim, Jung-Hee Hong, Ji-Eun Lee, Young-Cheol Lee
18β-Glycyrrhetinic acid (18Gly), the major bioactive component of Glycyrrhizae Radix, possesses anti-ulcerative, anti-inflammatory, and other pharmacological properties. Although 18Gly is associated with immunoregulatory functions of allergic diseases, the pathophysiological mechanisms of 18Gly action in allergic inflammatory lung disease have not been examined. Moreover, there are no in vivo studies on the anti-asthmatic effects of 18Gly in allergic asthma. We investigated its effect and mechanism of action in airway inflammation in a BALB/c mouse model of allergic asthma...
March 20, 2017: Environmental Toxicology and Pharmacology
https://www.readbyqxmd.com/read/28400128/hta-programme-response-to-the-challenges-of-dealing-with-orphan-medicinal-products-process-evaluation-in-selected-european-countries
#14
Elena Nicod, Lieven Annemans, Anna Bucsics, Anne Lee, Sheela Upadhyaya, Karen Facey
BACKGROUND: Challenges commonly encountered in HTA of orphan medicinal products (OMPs) were identified in Advance-HTA. Since then, new initiatives have been developed to specifically address issues related to HTA of OMPs. OBJECTIVE AND METHODS: This study aimed to understand why these new HTA initiatives in England, Scotland and at European-level were established and whether they resolve the challenges of OMPs. The work of Advance-HTA was updated with a literature review and a conceptual framework of clinical, regulatory and economic challenges for OMPs was developed...
March 28, 2017: Health Policy
https://www.readbyqxmd.com/read/28387537/using-phase-ii-data-for-the-analysis-of-phase-iii-studies-an-application-in-rare-diseases
#15
Simon Wandel, Beat Neuenschwander, Christian Röver, Tim Friede
BACKGROUND: Clinical research and drug development in orphan diseases are challenging, since large-scale randomized studies are difficult to conduct. Formally synthesizing the evidence is therefore of great value, yet this is rarely done in the drug-approval process. Phase III designs that make better use of phase II data can facilitate drug development in orphan diseases. METHODS: A Bayesian meta-analytic approach is used to inform the phase III study with phase II data...
March 1, 2017: Clinical Trials: Journal of the Society for Clinical Trials
https://www.readbyqxmd.com/read/28387389/the-year-s-new-drugs-biologics-2016-part-ii-trends-and-highlights-of-an-unforgettable-year
#16
A I Graul, C Dulsat, M Tracy, E Cruces
This eagle's-eye overview of the drug industry in 2016 provides insight into some of last year's top stories, including disease outbreaks that drove R&D, orphan drug development, pipeline attrition, drug pricing, and the ongoing movement in M&A. We also consider recent political events in the U.S. and U.K. and their potential impact on the industry in the years to come, and take a glimpse into the crystal ball to anticipate the new drugs that may be approved in 2017.
February 2017: Drugs of Today
https://www.readbyqxmd.com/read/28372595/orphan-medicinal-products-in-europe-and-united-states-to-cover-needs-of-patients-with-rare-diseases-an-increased-common-effort-is-to-be-foreseen
#17
Viviana Giannuzzi, Rosa Conte, Annalisa Landi, Serena Antonella Ottomano, Donato Bonifazi, Paola Baiardi, Fedele Bonifazi, Adriana Ceci
BACKGROUND: In the European Union (EU) and United States (US), specific regulations have been released to provide incentives to develop and sell orphan medicinal products. We analysed the status of orphan drugs designated that not yet received a marketing authorisation or already marketed for patients affected by rare diseases in the EU and US up to December 2015. For each drug, the following data were extracted: designation date, active substance(s), orphan condition and indication, trade name, approved therapeutic indication, approved ages, genetic nature of disease and if affects children...
April 3, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28365573/serum-levels-of-interleukin-33-and-soluble-st2-are-associated-with-the-extent-of-disease-activity-and-cutaneous-manifestations-in-patients-with-active-adult-onset-still-s-disease
#18
Jae Ho Han, Chang-Hee Suh, Ju-Yang Jung, Mi-Hyun Ahn, Ji Eun Kwon, Hyunee Yim, Hyoun-Ah Kim
OBJECTIVE: Interleukin 33 (IL-33), a member of the IL-1 family and a ligand of the orphan receptor ST2, plays key roles in innate and adaptive immunity. We examined the associations between IL-33/ST2 levels and clinical manifestations of patients with active adult-onset Still's disease (AOSD). METHODS: Blood samples were collected from 40 patients with active AOSD, 28 patients with rheumatoid arthritis (RA), and 27 healthy controls (HC). The serum levels of IL-33 and soluble ST2 were determined using ELISA...
April 1, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28364136/relapsing-polychondritis-a-chameleon-among-orphan-diseases
#19
REVIEW
Sabine Schumacher, Herwig Pieringer
Relapsing polychondritis (RPC) is a rare disease with recurrent episodes of inflammation of cartilage tissue leading to fibrosis and organ damage. Despite unknown etiology, there is some evidence of a genetic predisposition. The clinical presentation is heterogeneous and an association with other autoimmune disorders such as rheumatoid arthritis or different forms of vasculitis has been described. All organ systems containing cartilage can be affected, such as ear, nose, joints, trachea, aorta, and coronary arteries...
March 31, 2017: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28363715/why-are-orphaned-adolescents-more-likely-to-be-hiv-positive-distinguishing-between-maternal-and-sexual-hiv-transmission-using-17%C3%A2-nationally-representative-data-sets-in-africa
#20
Rachel Kidman, Philip Anglewicz
PURPOSE: Why do orphans have higher rates of HIV infection than nonorphaned peers? Research consistently assumes that orphans acquire HIV primarily through sexual behavior, but infections may instead be due to maternal transmission. Although these two pathways have very different implications for HIV programs and policies, their relative contribution has not been previously examined. In this research, we compare the contribution of maternal and sexual transmission to HIV infection among orphans in Africa...
March 28, 2017: Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine
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