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https://www.readbyqxmd.com/read/29782633/macrothrombocytopenia-renal-dysfunction-and-nephrotic-syndrome-in-a-young-male-patient-a-case-report-of-myh9-related-disease
#1
Gabriela Sevignani, Giovana Memari Pavanelli, Sibele Sauzem Milano, Bianca Ramos Ferronato, Maria Aparecida Pachaly, Hae Ii Cheong, Mauricio de Carvalho, Fellype Carvalho Barreto
MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts...
May 17, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29779776/rd-rio-mycobacterium-tuberculosis-lineage-in-the-brazil-paraguay-argentina-triple-border
#2
Aryadne Larissa de Almeida, Regiane Bertin de Lima Scodro, Hayalla Corrêa de Carvalho, Giovana Ferreira Costacurta, Vanessa Pietrowski Baldin, Nathally Claudiane Souza Santos, Luciana Dias Ghiraldi-Lopes, Paula Aline Zanetti Campanerut-Sá, Vera Lucia Dias Siqueira, Katiany Rizzieri Caleffi-Ferracioli, Flávia Kazumi Shibata, Andressa Sprada, Rosilene Fressatti Cardoso
The high tuberculosis (TB) incidence rates, the closeness of the cities and the high migration flux on the Brazil/Paraguay/Argentina border deserves an in-depth study, using Mycobacterial Interspersed Repetitive Unit (MIRU) and Spoligotyping genetic markers to explore the impact of the Mycobacterium tuberculosis RDRio lineage on disease transmission and resistance to anti-TB drugs in this setting. Although without the totality of M. tuberculosis isolates causing TB in this studied setting, a number of 97 isolates obtained from sputa samples culture of patients with confirmed TB, from 2013 to 2015, were submitted to 24 loci MIRU, Spoligotyping, detection of RDRio lineage and detection of mutation related to isoniazid and rifampicin resistance by MTBDRplus/DNA STRIP...
May 2018: Tuberculosis
https://www.readbyqxmd.com/read/29779531/orphan-drugs-and-their-impact-on-pharmaceutical-development
#3
REVIEW
Misty M Attwood, Mathias Rask-Andersen, Helgi B Schiöth
High levels of productivity, with an increasing number of approvals for new molecular entities (NMEs) by the FDA during the past decade, have coincided with the emergence of innovative drugs for treatments of rare diseases that have utilized the FDA orphan drug program. Since 2000, NMEs with orphan designation encompass a significant portion of approved drugs and constitute about 80% of the approved drugs that have established novel human genome-encoded products in recent years. Biological approvals are also expanding, with 40% of the approved biological agents having orphan designation...
June 2018: Trends in Pharmacological Sciences
https://www.readbyqxmd.com/read/29774027/clinical-remission-of-sight-threatening-non-infectious-uveitis-is-characterized-by-an-upregulation-of-peripheral-t-regulatory-cell-polarized-towards-t-bet-and-tigit
#4
Rose M Gilbert, Xiaozhe Zhang, Robert D Sampson, Michael R Ehrenstein, Dao X Nguyen, Mahid Chaudhry, Charles Mein, Nadiya Mahmud, Grazyna Galatowicz, Oren Tomkins-Netzer, Virginia L Calder, Sue Lightman
Background: Non-infectious uveitis can cause chronic relapsing and remitting ocular inflammation, which may require high dose systemic immunosuppression to prevent severe sight loss. It has been classically described as an autoimmune disease, mediated by pro-inflammatory Th1 and Th17 T-cell subsets. Studies suggest that natural immunosuppressive CD4+ CD25+ FoxP3+ T-regulatory cells (Tregs) are involved in resolution of inflammation and may be involved in the maintenance of clinical remission...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29771310/fingolimod-phosphate-inhibits-astrocyte-inflammatory-activity-in-mucolipidosis-iv
#5
Laura Weinstock, Amanda M Furness, Shawn Herron, Sierra S Smith, Sitara Sankar, Samantha G DeRosa, Dadi Gao, Molly E Mepyans, Anna Scotto Rosato, Diego L Medina, Ayelet Vardi, Natalia S Ferreira, Soo Min Cho, Anthony H Futerman, Susan A Slaugenhaupt, Levi B Wood, Yulia Grishchuk
Mucolipidosis IV (MLIV) is an orphan neurodevelopmental disease that causes severe neurologic dysfunction and loss of vision. Currently there is no therapy for MLIV. It is caused by loss of function of the lysosomal channel mucolipin-1, also known as TRPML1. Knockout of the Mcoln1 gene in a mouse model mirrors clinical and neuropathological signs in humans. Using this model, we previously observed robust activation of microglia and astrocytes in early symptomatic stages of disease. Here we investigate the consequence of mucolipin-1 loss on astrocyte inflammatory activation in vivo and in vitro and apply a pharmacological approach to restore Mcoln1-/- astrocyte homeostasis using a clinically approved immunomodulator, fingolimod...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29769380/pneumococcal-metabolic-adaptation-and-colonization-are-regulated-by-the-two-component-regulatory-system-08
#6
Alejandro Gómez-Mejia, Gustavo Gámez, Stephanie Hirschmann, Viktor Kluger, Hermann Rath, Sebastian Böhm, Franziska Voss, Niamatullah Kakar, Lothar Petruschka, Uwe Völker, Reinhold Brückner, Ulrike Mäder, Sven Hammerschmidt
Streptococcus pneumoniae two-component regulatory systems (TCS) enable adaptation and ensure its maintenance in host environments. This study deciphers the impact of TCS08 on pneumococcal gene expression and its role in metabolic and pathophysiological processes. Transcriptome analysis and real-time PCR demonstrated a regulatory effect of TCS08 on genes involved mainly in environmental information processing, intermediary metabolism, and colonization by S. pneumoniae D39 and TIGR4. Striking examples are genes for fatty acid biosynthesis, genes of the arginine deiminase system, and the psa operon encoding the manganese ABC transport system...
June 27, 2018: MSphere
https://www.readbyqxmd.com/read/29765774/how-shall-we-treat-early-triple-negative-breast-cancer-tnbc-from-the-current-standard-to-upcoming-immuno-molecular-strategies
#7
REVIEW
Ji Hyun Park, Jin-Hee Ahn, Sung-Bae Kim
Triple-negative breast cancer (TNBC) is a long-lasting orphan disease in terms of little therapeutic progress during the past several decades and still the standard of care remains chemotherapy. Experimental discovery of molecular signatures including the 'BRCAness' highlighted the innate heterogeneity of TNBC, generating the diversity of TNBC phenotypes. As it contributes to enhancing genomic instability, it has widened the therapeutic spectrum of TNBC. In particular, unusual sensitivity to DNA damaging agents was denoted in patients with BRCA deficiency, suggesting therapeutic benefit from platinum and poly(ADP-ribose) polymerase inhibitors...
2018: ESMO Open
https://www.readbyqxmd.com/read/29757590/imbalance-of-peripheral-blood-t-helper-type-17-responses-in-patients-with-vitiligo
#8
Farinaz Behfarjam, Parvine Mansouri, Zohreh Jadali
There is growing evidence to suggest that Th cells play pivotal roles in a variety of chronic inflammatory diseases, including vitiligo. However, the exact role of different subsets of Th cells in the pathogenesis of vitiligo is still a question. The purpose of present study was to determine the mRNA expression level of Th17 master transcription factor retinoic acid receptor-related orphan receptors gamma (RORɣt) and cytokine mRNA and protein expression profiles of Th17 cells. 22 patients with vitiligo and 22 normal subjects were enrolled in the study...
April 2018: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/29754637/new-molecular-targets-for-treatment-of-cushing-s-disease
#9
REVIEW
Elizabeth Foulkes, John Newell-Price
Despite the best outcomes from trans-sphenoidal surgery, approximately one-third of patients with Cushing's disease will need medical therapy. Current treatments have drawbacks and there is a clear clinical need for new therapies. Recent understanding of molecular pathways leading to excess ACTH secretion has identified key components that may be targeted with the aim to provide novel effective treatment for this devastating disease. These include testicular orphan nuclear receptor 4, heat shock protein 90, and epidermal growth factor receptor...
June 2018: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/29753352/patient-access-to-medicines-for-rare-diseases-in-european-countries
#10
Andreja Detiček, Igor Locatelli, Mitja Kos
BACKGROUND: The number of authorized orphan and non-orphan medicines for rare diseases has increased in Europe. Patient access to these medicines is affected by high costs, weak efficacy/safety evidence, and societal value. European health care systems must determine whether paying for expensive treatments for only a few patients is sustainable. OBJECTIVES: This study aimed to evaluate patient access to orphan and non-orphan medicines for rare diseases in 22 European countries during 2005 to 2014...
May 2018: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/29753351/evaluating-and-valuing-drugs-for-rare-conditions-no-easy-answers
#11
Daniel A Ollendorf, Richard H Chapman, Steven D Pearson
We find ourselves in an era of unprecedented growth in the development and use of so-called "orphan" drugs to treat rare diseases, which are poised to represent more than one-fifth of pharmaceutical expenditures by 2022. This widespread use has been facilitated by legislative and regulatory incentives in both the United States and abroad, yet US payers and health systems have not yet made a concerted effort to understand whether and how rare diseases require special considerations on their part and how to adapt traditional methods of health technology assessment and economic evaluation to accommodate these situations...
May 2018: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/29753350/societal-preferences-for-funding-orphan-drugs-in-the-united-kingdom-an-application-of-person-trade-off-and-discrete-choice-experiment-methods
#12
Siobhan M Bourke, Catrin O Plumpton, Dyfrig A Hughes
BACKGROUND: It is unclear whether UK National Health Service (NHS) policies for orphan drugs, which permit funding of non-cost-effective treatments, reflect societal preferences. METHODS: We conducted person trade-off (PTO) and discrete choice experiment (DCE) among 3950 adults selected to be representative of the UK general population. Experimental design was informed by surveys of patients affected by rare diseases, their caregivers, health care staff, and policymakers...
May 2018: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/29753348/budgetary-impact-and-cost-drivers-of-drugs-for-rare-and-ultrarare-diseases
#13
REVIEW
Michael Schlander, Charalabos-Markos Dintsios, Afschin Gandjour
OBJECTIVES: To review recent studies reporting health care expenditures (budgetary impact) for orphan medicinal products (OMPs) in Europe and to contribute to our understanding of the cost drivers of nononcological OMPs by means of an empirical analysis in Germany. METHODS: A systematic search for relevant studies on rare diseases was conducted in PubMed and Embase (until December 2016). In addition, annual treatment costs of nononcological OMPs in Germany were analyzed with respect to five explanatory variables: total prevalence of disease, prevalence with added benefit, availability of alternative treatments for the same indication, extent/probability of treatment benefit, and evidence for a treatment effect on mortality...
May 2018: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/29753347/economic-modeling-considerations-for-rare-diseases
#14
Isobel Pearson, Ben Rothwell, Andrew Olaye, Christopher Knight
OBJECTIVES: To identify challenges that affect the feasibility and rigor of economic models in rare diseases and strategies that manufacturers have employed in health technology assessment submissions to demonstrate the value of new orphan products that have limited study data. METHODS: Targeted reviews of PubMed, the National Institute for Health and Care Excellence's (NICE's) Highly Specialised Technologies (HST), and the Scottish Medicines Consortium's (SMC's) ultra-orphan submissions were performed...
May 2018: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/29749556/andrographolide-affects-th1-th2-th17-responses-of-peripheral-blood-mononuclear-cells-from-ulcerative-colitis-patients
#15
Qin Zhu, Peifen Zheng, Jianying Zhou, Xinyu Chen, Yuliang Feng, Weifeng Wang, Feng Zhou, Qiaona He
Ulcerative colitis (UC) is a chronic, idiopathic, inflammatory bowel disease of the colon. T cell responses have been associated with the pathology of UC. Andrographis paniculata (AP) extract has been previously reported as an effective treatment of UC. The present study aimed to explore the effects of andrographolide, the primary active component of AP, on the T cell responses of patients with UC. Peripheral blood mononuclear cells (PBMCs) were isolated from patients with UC and treated with various concentrations of andrographolide (0, 10, 20 and 30 µg/ml)...
May 8, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29737533/a-randomized-first-in-human-healthy-volunteer-trial-of-bivv009-a-humanized-antibody-for-the-specific-inhibition-of-the-classical-complement-pathway
#16
Johann Bartko, Christian Schoergenhofer, Michael Schwameis, Christa Firbas, Martin Beliveau, Colin Chang, Jean-Francois Marier, Darrell Nix, James C Gilbert, Sandip Panicker, Bernd Jilma
Aberrant activation of the classical complement pathway is the common underlying pathophysiology of orphan diseases such as bullous pemphigoid, antibody-mediated rejection of organ transplants, cold agglutinin disease and warm autoimmune haemolytic anaemia. Therapeutic options for these complement-mediated disorders are limited and BIVV009, a humanized monoclonal antibody directed against complement factor C1s, may be potentially useful for inhibition of the classical complement pathway. A phase-1, first-in-human, double-blind, randomized, placebo-controlled, dose-escalation trial of single and multiple doses of BIVV009 or placebo was conducted in 64 volunteers to evaluate safety, tolerability, pharmacokinetic, and pharmacodynamic profiles...
May 8, 2018: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/29736277/why-miltefosine-a-life-saving-drug-for-leishmaniasis-is-unavailable-to-people-who-need-it-the-most
#17
REVIEW
Temmy Sunyoto, Julien Potet, Marleen Boelaert
Miltefosine, the only oral drug approved for the treatment of leishmaniasis-a parasitic disease transmitted by sandflies-is considered as a success story of research and development (R&D) by a public-private partnership (PPP). It epitomises the multiple market failures faced by a neglected disease drug: patients with low ability to pay, neglect by authorities and uncertain market size. Originally developed as an anticancer agent in the 1990s, the drug was registered in India in 2002 to treat the fatal visceral leishmaniasis...
2018: BMJ Global Health
https://www.readbyqxmd.com/read/29735757/malleilactone-is-a-burkholderia-pseudomallei-virulence-factor-regulated-by-antibiotics-and-quorum-sensing
#18
Jennifer R Klaus, Jacqueline Deay, Benjamin Neuenswander, Wyatt Hursh, Zhe Gao, Tiffany Bouddhara, Todd D Williams, Justin Douglas, Kyle Monize, Patricia Martins, Charlotte Majerczyk, Mohammad R Seyedsayamdost, Blake R Peterson, Mario Rivera, Josephine R Chandler
Burkholderia pseudomallei , the causative agent of melioidosis, encodes almost a dozen predicted polyketide (PK) biosynthetic gene clusters. Many of these are regulated by LuxR-I-type acyl-homoserine (AHL) quorum-sensing systems. One of the PK gene clusters, the mal gene cluster, is conserved in the close relative Burkholderia thailandensis. The B. thailandensis mal genes code for the cytotoxin malleilactone and are regulated by a genetically linked LuxR-type transcription factor, MalR. Although AHLs typically interact with LuxR-type proteins to modulate gene transcription, the B...
May 7, 2018: Journal of Bacteriology
https://www.readbyqxmd.com/read/29733729/evaluating-the-impact-of-the-orphan-drug-act-s-seven-year-market-exclusivity-period
#19
Ameet Sarpatwari, Reed F Beall, Abdurrahman Abdurrob, Mengdong He, Aaron S Kesselheim
For thirty-five years the Orphan Drug Act of 1983 has provided incentives for pharmaceutical manufacturers to develop drugs to treat rare diseases-conditions that affect fewer than 200,000 people in the US. One key statutory incentive is an exclusive seven-year marketing right for the rare disease indication, which has been heralded as driving a dramatic increase in the number of rare disease treatments. However, most new drugs are also protected by patents. In this study we assessed all new small-molecule drugs approved in the period 1985-2014 that had at least one indication for an orphan-designated disease as of January 1, 2017...
May 2018: Health Affairs
https://www.readbyqxmd.com/read/29729905/access-to-orphan-drugs-comparison-across-balkan-countries
#20
REVIEW
Ana V Pejcic, Georgi Iskrov, Mihajlo Michael Jakovljevic, Rumen Stefanov
The aim of this study was to compare orphan drug access in a sample of Balkan countries: five EU Member States (Bulgaria, Croatia, Greece, Romania, Slovenia) and two EU Candidates (Serbia, Montenegro). The comparative analysis was based on a cross-sectional study and included medicinal products with an active orphan designation and market authorisation on January 1, 2017. Access to orphan drugs is an ongoing challenge in these countries. Three clusters of countries were identified in terms of orphan drug access: Greece and Slovenia, making the top tier, Romania, Bulgaria, and Croatia, being in the middle, and EU Candidates, Serbia and Montenegro, forming the bottom tier, where a substantial number of EU market approved orphan drugs was not even registered...
April 26, 2018: Health Policy
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