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https://www.readbyqxmd.com/read/29217782/rational-management-approach-to-pure-red-cell-aplasia
#1
Suresh Kumar Balasubramanian, Meena Sadaps, Swapna Thota, Mai Aly, Bartlomiej P Przychodzen, Cassandra M Hirsch, Valeria Visconte, Tomas Radivoyevitch, Jaroslaw P Maciejewski
Pure red cell aplasia is an orphan disease without rationally established standard therapies. Most cases are idiopathic; a subset is antibody-mediated. There is overlap between idiopathic cases and those with T-large granular lymphocytic leukemia, hypogammaglobulinemia, and low-grade lymphomas. In all these, the pathogenetic mechanisms may involve autoreactive cytotoxic responses. We selected 62 uniformly diagnosed pure red cell aplasia patients and analyzed their pathophysiologic features and responsiveness to rationally applied first-line and salvage therapies to propose diagnostic and therapeutic algorithms that may help guide management of prospective patients...
December 7, 2017: Haematologica
https://www.readbyqxmd.com/read/29217475/in-vitro-drug-release-and-in-vivo-safety-of-vitamin-e-and-cysteamine-loaded-contact-lenses
#2
Phillip Dixon, Richard C Fentzke, Arnab Bhattacharya, Aditya Konar, Sarbani Hazra, Anuj Chauhan
Cystinosis is an orphan disease caused by a genetic mutation that leads to deposition of cystine crystals in many organs including cornea. Ophthalmic manifestation of the disease can be treated with hourly instillation of cysteamine eye drops. The hourly eye drop instillation is tedious to the patients leading to poor compliance and additionally, significant degradation of the drug occurs within one week of opening the bottle, which further complicates this delivery approach. This paper focuses on designing a contact lens to treat the disease with improved efficacy compared to eye drops, and also exploring safety of the drug eluding contact lens in an animal model...
December 4, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/29217432/transverse-tubular-network-structures-in-the-genesis-of-intracellular-calcium-alternans-and-triggered-activity-in-cardiac-cells
#3
Zhen Song, Michael B Liu, Zhilin Qu
RATIONALE: The major role of a transverse-tubular (TT) network in a cardiac cell is to facilitate effective excitation-contraction coupling and signaling. The TT network structures are heterogeneous within a single cell, and vary between different types of cells and species. They are also remodeled in cardiac diseases. However, how different TT network structures predispose cardiac cells to arrhythmogenesis remains to be revealed. OBJECTIVE: To systematically investigate the roles of TT network structure and the underlying mechanisms in the genesis of intracellular calcium (Ca2+) alternans and triggered activity (TA)...
December 4, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29216400/activity-and-safety-of-crizotinib-in-patients-with-alveolar-soft-part-sarcoma-with-rearrangement-of-tfe3-european-organization-for-research-and-treatment-of-cancer-eortc-phase-2-trial-90101-create
#4
P Schöffski, A Wozniak, B Kasper, S Aamdal, M G Leahy, P Rutkowski, S Bauer, H Gelderblom, A Italiano, L H Lindner, I Hennig, S Strauss, B Zakotnik, A Anthoney, L Albiges, J-Y Blay, P Reichardt, J Sufliarsky, W T A van der Graaf, M Debiec-Rychter, R Sciot, T Van Cann, S Marréaud, T Raveloarivahy, S Collette, S Stacchiotti
Background: Alveolar soft part sarcoma(ASPS) is an orphan malignancy associated with a rearrangement of transcription factor E3(TFE3), leading to abnormal MET gene expression. We prospectively assessed the efficacy and safety of the tyrosine kinase inhibitor(TKI) crizotinib in patients with advanced or metastatic ASPS. Patients and methods: Eligible patients with reference pathology-confirmed ASPS received oral crizotinib 250 mg twice daily. By assessing the presence or absence of a TFE3 rearrangement, patients were attributed to MET+ and MET- sub-cohorts...
December 5, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29215755/apelin-apj-system-a-critical-regulator-of-vascular-smooth-muscle-cell
#5
REVIEW
Xuling Luo, Jiaqi Liu, Hong Zhou, Linxi Chen
APJ, an orphan G protein-coupled receptor, is first identified through homology cloning in 1993. Apelin is endogenous ligand of APJ extracted from bovine stomach tissue in 1998. Apelin/APJ system is widely expressed in many kinds of cells such as endothelial cells, cardiomyocytes, especially vascular smooth muscle cell. Vascular smooth muscle cell, an integral part of the vascular wall, takes part in many normal physiological processes. Our experiment firstly finds that apelin/APJ system enhances VSMC proliferation by ERK1/2-cyclin D1 signal pathway...
December 7, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29214596/preparing-for-the-future-of-rare-diseases
#6
Stephen C Groft, Manuel Posada de la Paz
Members of the rare disease community have devoted significant financial and personnel resources to address the numerous issues surrounding rare diseases. The past has been devoted to developing an emphasis on rare diseases including an emphasis on research studies or locating information on rare diseases and the requirements and limitations of conducting clinical trials with small patient populations. The expanded role of patient advocacy organizations and patient engagement in all aspects of clinical research continues to gain acceptance within the research community...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29214592/the-european-union-policy-in-the-field-of-rare-diseases
#7
Antoni Montserrat Moliner, Jaroslaw Waligora
Rare diseases, are defined by the European Union as life-threatening or chronically debilitating diseases with low prevalence (less than 5 per 10,000). The specificities of rare diseases - limited number of patients and scarcity of relevant knowledge and expertise - single them out as a unique domain of very high European added-value.The legal instruments at the disposal of the European Union, in terms of the Article 168 of the Treaties, are very limited. However a combination of instruments using the research and the pharmaceutical legal basis and an intensive and creative use of funding from the Health Programmes has permitted to create a solid basis that Member States have considered enough to put rare diseases in a privileged position in the health agenda...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29214582/a-global-approach-to-rare-diseases-research-and-orphan-products-development-the-international-rare-diseases-research-consortium-irdirc
#8
Christine M Cutillo, Christopher P Austin, Stephen C Groft
Rare diseases present unique challenges to researchers due to the global distribution of patients, complexity and low prevalence of each disease, and limited availability of data. They are also overwhelming and costly for patients, their families, communities, and society. As such, global integration of rare diseases research is necessary to accelerate the understanding, diagnosis, and treatment of rare disorders. The International Rare Diseases Research Consortium (IRDiRC) was born out of that need for a coordinated international community...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29214573/post-approval-studies-for-rare-disease-treatments-and-orphan-drugs
#9
William C Maier, Ronald A Christensen, Patricia Anderson
Drug development involves a multi-stage process of drug discovery, animal studies and human clinical trials to assess the safety and efficacy of new medications. Rare disease drug development involves a much smaller number of affected patients, a predominance of pediatric patients and more complicated disease presentation. Post-approval studies are designed to address several limitations associated with the rare disease clinical trials.National and international regulatory agencies in the US and Europe have adopted similar approaches to requirements post-approval data for rare diseases and orphan drug indications...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29214572/incentivizing-orphan-product-development-united-states-food-and-drug-administration-orphan-incentive-programs
#10
Tran T Le
Over 30 years ago, the United States (US) Congress passed the Orphan Drug Act (ODA) to encourage the development of products for rare diseases or conditions ("orphan products"). The Act provided incentives to sponsors for developing products with orphan designation and established a grant program to fund studies of orphan products. Since its enactment in 1983, the ODA has been credited for bringing more than 590 orphan drugs to the market, inspiring the implementation of orphan legislation globally, and enabling the creation of other programs that extend existing knowledge of the natural history of rare diseases and stimulate the development of medical devices for children and patients with rare diseases...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29209510/milrinone-in-congenital-diaphragmatic-hernia-a-randomized-pilot-trial-study-protocol-review-of-literature-and-survey-of-current-practices
#11
REVIEW
Satyan Lakshminrusimha, Martin Keszler, Haresh Kirpalani, Krisa Van Meurs, Patricia Chess, Namasivayam Ambalavanan, Bradley Yoder, Maria V Fraga, Holly Hedrick, Kevin P Lally, Leif Nelin, Michael Cotten, Jonathan Klein, Stephanie Guilford, Ashley Williams, Aasma Chaudhary, Marie Gantz, Jenna Gabrio, Dhuly Chowdhury, Kristin Zaterka-Baxter, Abhik Das, Rosemary D Higgins
Background: Congenital diaphragmatic hernia (CDH) is commonly associated with pulmonary hypoplasia and pulmonary hypertension (PH). PH associated with CDH (CDH-PH) is frequently resistant to conventional pulmonary vasodilator therapy including inhaled nitric oxide (iNO) possibly due to right and left ventricular dysfunction. Milrinone is an intravenous inotrope and lusitrope with pulmonary vasodilator properties and has been shown anecdotally to improve oxygenation in PH. We developed this pilot study to determine if milrinone infusion would improve oxygenation in neonates ≥36 weeks postmenstrual age (PMA) with CDH...
2017: Maternal Health, Neonatology and Perinatology
https://www.readbyqxmd.com/read/29209166/mir-145-5p-nurr1-tnf-%C3%AE-signaling-induced-microglia-activation-regulates-neuron-injury-of-acute-cerebral-ischemic-reperfusion-in-rats
#12
Xuemei Xie, Li Peng, Jin Zhu, Yang Zhou, Lingyu Li, Yanlin Chen, Shanshan Yu, Yong Zhao
Nurr1 is a member of the nuclear receptor 4 family of orphan nuclear receptors that is decreased in inflammatory responses and leads to neurons death in Parkinson's disease. Abnormal expression of Nurr1 have been attributed to various signaling pathways, but little is known about microRNAs (miRNAs) regulation of Nurr1 in ischemia/reperfusion injury. To investigate the post transcriptional regulatory networks of Nurr1, we used a miRNA screening approach and identified miR-145-5p as a putative regulator of Nurr1...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29204899/secondary-metabolism-in-fusarium-fujikuroi-strategies-to-unravel-the-function-of-biosynthetic-pathways
#13
REVIEW
Slavica Janevska, Bettina Tudzynski
The fungus Fusarium fujikuroi causes bakanae disease of rice due to its ability to produce the plant hormones, the gibberellins. The fungus is also known for producing harmful mycotoxins (e.g., fusaric acid and fusarins) and pigments (e.g., bikaverin and fusarubins). However, for a long time, most of these well-known products could not be linked to biosynthetic gene clusters. Recent genome sequencing has revealed altogether 47 putative gene clusters. Most of them were orphan clusters for which the encoded natural product(s) were unknown...
December 4, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/29201026/th17-cell-frequency-in-peripheral-blood-is-elevated-in-overweight-children-without-chronic-inflammatory-diseases
#14
Theresa Isabell Schindler, Johanna-Josophina Wagner, Sybelle Goedicke-Fritz, Tobias Rogosch, Verena Coccejus, Verena Laudenbach, Wilfried Nikolaizik, Christoph Härtel, Rolf Felix Maier, Sebastian Kerzel, Michael Zemlin
Background: The prevalence of obesity has dramatically increased in children in the last few decades and is associated with chronic inflammatory diseases. Fat tissue produces IL-6 and TNF-α, which are stimuli for TH17 cell differentiation. These cells are characterized by expression of the transcription factor receptor-related orphan receptor C (RORC) and by IL-17A production. In murine models, obesity has been linked with elevated TH17 cell frequencies. The aim of this study was to explore whether being overweight was associated with an elevated frequency of circulating TH17 cells or elevated messenger RNA (mRNA)-levels of IL-17A and RORC in children without chronic inflammatory diseases...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29195598/orphan-drug-approval-for-erdheim-chester-disease
#15
EDITORIAL
The Lancet Haematology
No abstract text is available yet for this article.
December 2017: Lancet Haematology
https://www.readbyqxmd.com/read/29192555/nanoemulsions-of-sulfonamide-carbonic-anhydrase-inhibitors-strongly-inhibit-the-growth-of-trypanosoma-cruzi
#16
Alane Beatriz Vermelho, Verônica da Silva Cardoso, Eduardo Ricci Junior, Elisabete Pereira Dos Santos, Claudiu T Supuran
Sulfonamide carbonic anhydrase (CA, EC 4.2.1.1) inhibitors targeting the α-class enzyme from the protozoan pathogen Trypanosoma cruzi, responsible of Chagas disease, were recently reported. Although many such derivatives showed low nanomolar activity in vitro, they were inefficient anti-T. cruzi agents in vivo. Here, we show that by formulating such sulfonamides as nanoemulsions in clove (Eugenia caryophyllus) oil, highly efficient anti-protozoan effects are observed against two different strains of T. cruzi...
December 2018: Journal of Enzyme Inhibition and Medicinal Chemistry
https://www.readbyqxmd.com/read/29190827/intra-venous-bevacizumab-in-hereditary-hemorrhagic-telangiectasia-hht-a-retrospective-study-of-46-patients
#17
Alexandre Guilhem, Anne-Emmanuelle Fargeton, Anne-Claire Simon, Pierre Duffau, Jean-Robert Harle, Christian Lavigne, Marie-France Carette, Olivier Bletry, Pierre Kaminsky, Vanessa Leguy, Nathalie Lerolle, Dominique Roux, Marc Lambert, Thierry Chinet, Delphine Bonnet, Sophie Dupuis-Girod, Sophie Rivière
BACKGROUND: Bevacizumab, an anti-VEGF monoclonal antibody, has recently emerged as a new option for severe forms of hereditary hemorrhagic telangiectasia (HHT). Its utilization in this orphan disease has rapidly spread despite the lack of randomized trials and international guidelines. The objective of this study is to report the main clinical data (baseline characteristics, dose schedule, efficacy, adverse events and deaths) of HHT patients treated by intravenous bevacizumab in France...
2017: PloS One
https://www.readbyqxmd.com/read/29188576/modeling-and-deorphanization-of-orphan-gpcrs
#18
Constantino Diaz, Patricia Angelloz-Nicoud, Emilie Pihan
Despite tremendous efforts, approximately 120 GPCRs remain orphan. Their physiological functions and their potential roles in diseases are poorly understood. Orphan GPCRs are extremely important because they may provide novel therapeutic targets for unmet medical needs. As a complement to experimental approaches, molecular modeling and virtual screening are efficient techniques to discover synthetic surrogate ligands which can help to elucidate the role of oGPCRs. Constitutively activated mutants and recently published active structures of GPCRs provide stimulating opportunities for building active molecular models for oGPCRs and identifying activators using virtual screening of compound libraries...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29188067/isolation-and-characterization-of-leptospira-interrogans-serovar-copenhageni-from-a-dog-from-saint-kitts
#19
Christopher R Larson, Michelle Dennis, Rajeev V Nair, Alejandro Llanes, Andrea Peda, Shamara Welcome, Sreekumari Rajeev
Introduction. Leptospirosis is a zoonotic bacterial disease of global distribution affecting humans and animals. The initial phase of leptospirosis resembles many other febrile illness and due to its broad and biphasic clinical manifestations, selection and implementation of appropriate diagnostic tests can be challenging. Case presentation. This report describes a case investigation of a 14 weeks old male, orphan puppy, presented with generalised jaundice, anemia, weakness, and anorexia. Clinical abnormalities included the evidence of renal and hepatic failure...
October 2017: JMM Case Reports
https://www.readbyqxmd.com/read/29180354/patients-with-rare-diseases-from-therapeutic-orphans-to-pioneers-of-personalized-treatments
#20
Christoph Klein, William A Gahl
No abstract text is available yet for this article.
November 27, 2017: EMBO Molecular Medicine
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