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https://www.readbyqxmd.com/read/28731526/drug-discovery-and-development-for-rare-genetic-disorders
#1
REVIEW
Wei Sun, Wei Zheng, Anton Simeonov
Approximately 7,000 rare diseases affect millions of individuals in the United States. Although rare diseases taken together have an enormous impact, there is a significant gap between basic research and clinical interventions. Opportunities now exist to accelerate drug development for the treatment of rare diseases. Disease foundations and research centers worldwide focus on better understanding rare disorders. Here, the state-of-the-art drug discovery strategies for small molecules and biological approaches for orphan diseases are reviewed...
July 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28730644/fungiscope-%C3%A2-global-emerging-fungal-infection-registry
#2
Danila Seidel, Luisa A Durán Graeff, Maria J G T Vehreschild, Hilmar Wisplinghoff, Maren Ziegler, J Janne Vehreschild, Blasius Liss, Axel Hamprecht, Philipp Köhler, Zdenek Racil, Nikolay Klimko, Donald C Sheppard, Raoul Herbrecht, Anuradha Chowdhary, Oliver A Cornely, FungiScope Group
Rare invasive fungal diseases (IFD) are challenging for the treating physicians because of their unspecific clinical presentation, as well as the lack of standardised diagnostic and effective treatment strategies. Late onset of treatment and inappropriate medication is associated with high mortality, thus, urging the need for a better understanding of these diseases. The purpose of FungiScope(™) is to continuously collect clinical information and specimens to improve the knowledge on epidemiology and eventually improve patient management of these orphan diseases...
August 2017: Mycoses
https://www.readbyqxmd.com/read/28728843/expression-and-prognostic-role-of-orphan-receptor-gpr110-in-glioma
#3
Haiping Shi, Shiyuan Zhang
Glioma is the most common type of malignancy in the central nervous system, which has a poor prognosis due to its rapid progression and diffuse invasion. Identification of novel biomarkers for glioma would be invaluable for studying disease mechanism and improving prognosis. Orphan G protein-coupled receptor 110 (GPR110) belongs to the subfamily VI of adhesion GPCR. The knowledge of the ligand, signaling pathway or physiology function of GPR110 is poorly elucidated. The potential role of GPR110 as an oncogene in mouse has been recently reported by mutagenesis screen...
July 17, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28720054/impact-of-novel-agents-on-patient-relevant-outcomes-in-patients-with-previously-untreated-cll-who-are-not-eligible-for-fludarabine-based-therapy
#4
Moushmi Singh, Stuart Mealing, Simona Baculea, Sarah Cote, Jo Whelan
BACKGROUND: Chronic lymphocytic leukemia (CLL) is an orphan disease that primarily affects the elderly. The majority of symptomatic patients eligible for frontline treatment are unfit for fludarabine based chemoimmunotherapy. Historical treatment includes chlorambucil (Chl), bendamustine/rituximab (BR), and chlorambucil/rituximab/ChlR combination. Clinical guidelines now recommend the use of novel agents, such as ibrutinib (Ibr), in both frontline and relapse settings and other novel agents, such as idelalisib (with rituximab), in relapse settings...
July 19, 2017: Journal of Medical Economics
https://www.readbyqxmd.com/read/28719647/morbidity-outcomes-and-cost-benefit-analysis-of-wildlife-rehabilitation-in-catalonia-spain
#5
Rafael Angel Molina-López, Santi Mañosa, Alex Torres-Riera, Manel Pomarol, Laila Darwich
BACKGROUND: There are few studies of careful examination of wildlife casualties in Wildlife Rehabilitation Centers. These studies are essential for detecting menaces to wild species and providing objective criteria about cost-benefit of treatments in those centers. The release rate is considered the main outcome indicator, but other parameters such as length of stay at the center and a cost-benefit index expressed as number of released animals per euro and day, could be used as reliable estimators of the rehabilitation costs...
2017: PloS One
https://www.readbyqxmd.com/read/28713412/the-emerging-oilseed-crop-sesamum-indicum-enters-the-omics-era
#6
REVIEW
Komivi Dossa, Diaga Diouf, Linhai Wang, Xin Wei, Yanxin Zhang, Mareme Niang, Daniel Fonceka, Jingyin Yu, Marie A Mmadi, Louis W Yehouessi, Boshou Liao, Xiurong Zhang, Ndiaga Cisse
Sesame (Sesamum indicum L.) is one of the oldest oilseed crops widely grown in Africa and Asia for its high-quality nutritional seeds. It is well adapted to harsh environments and constitutes an alternative cash crop for smallholders in developing countries. Despite its economic and nutritional importance, sesame is considered as an orphan crop because it has received very little attention from science. As a consequence, it lags behind the other major oil crops as far as genetic improvement is concerned. In recent years, the scenario has considerably changed with the decoding of the sesame nuclear genome leading to the development of various genomic resources including molecular markers, comprehensive genetic maps, high-quality transcriptome assemblies, web-based functional databases and diverse daft genome sequences...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28712621/dealing-with-uncertainty-and-accounting-for-social-value-judgments-in-assessments-of-orphan-drugs-evidence-from-four-european-countries
#7
Elena Nicod, Karen Berg Brigham, Isabelle Durand-Zaleski, Panos Kanavos
OBJECTIVES: To better understand the reasons for differences in reimbursement decisions for orphan drugs in four European countries that were not readily apparent from health technology assessment (HTA) reports and operating procedures. METHODS: Semistructured interviews with representatives of HTA bodies in England, Scotland, Sweden, and France were conducted. An interview topic guide was developed on the basis of findings from a systematic comparison of HTA decisions for 10 orphan drugs...
July 2017: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/28712612/patient-reported-outcome-and-observer-reported-outcome-assessment-in-rare-disease-clinical-trials-an-ispor-coa-emerging-good-practices-task-force-report
#8
Katy Benjamin, Margaret K Vernon, Donald L Patrick, Eleanor Perfetto, Sandra Nestler-Parr, Laurie Burke
BACKGROUND: Rare diseases (RDs) affect a small number of people within a population. About 5000 to 8000 distinct RDs have been identified, with an estimated 6% to 8% of people worldwide suffering from an RD. Approximately 75% of RDs affect children. Frequently, these conditions are heterogeneous; many are progressive. Regulatory incentives have increased orphan drug designations and approvals. OBJECTIVE: To develop emerging good practices for RD outcomes research addressing the challenges inherent in identifying, selecting, developing, adapting, and implementing patient-reported outcome (PRO) and observer-reported outcome (ObsRO) assessments for use in RD clinical trials...
July 2017: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/28700108/gpr88-in-a2a-receptor-expressing-neurons-modulates-locomotor-response-to-dopamine-agonists-but-not-sensorimotor-gating
#9
A C Meirsman, A de Kerchove d'Exaerde, B L Kieffer, A M Ouagazzal
The orphan receptor, GPR88, is emerging as a key player in the pathophysiology of several neuropsychiatric diseases, including psychotic disorders. Knockout (KO) mice lacking GPR88 throughout the brain exhibit many abnormalities relevant to schizophrenia including locomotor hyperactivity, behavioral hypersensitivity to dopaminergic psychostimulants and deficient sensorimotor gating. Here, we used conditional knockout (cKO) mice lacking GPR88 selectively in striatal medium spiny neurons expressing A2A receptor to determine neuronal circuits underlying these phenotypes...
July 12, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28698385/retinoic-acid-receptor-related-orphan-receptor-alpha-stimulates-adipose-tissue-inflammation-by-modulating-endoplasmic-reticulum-stress
#10
Yin Liu, Yulong Chen, Jinlong Zhang, Yulan Liu, Yanjie Zhang, Zhiguang Su
Adipose tissue inflammation has been linked to metabolic diseases such as obesity and type 2 diabetes. However, the molecules that mediate inflammation in adipose tissue have not been addressed. Although retinoic acid receptor-related orphan receptor alpha (RORα) is known to be involved in the regulation of inflammatory response in some tissues, its role is largely unknown in adipose tissue. Conversely, it is known that endoplasmic reticulum (ER) stress and unfolding protein response (UPR) signaling affect the inflammatory response in obese adipose tissue, but whether RORα regulates these processes remains unknown...
July 11, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28696792/direct-to-consumer-genetic-testing-and-orphan-drug-development
#11
Matthew Mason, James Levenson, John Quillin
Since the introduction of the Orphan Drug Act (ODA) in 1983, orphan drug approvals in the United States have jumped from <100 per decade to over 200 per year. This growth is widely attributed to the financial incentives the ODA gives to companies that develop these medicines, and it is likely to continue for a unique reason: partnerships between pharmaceutical firms and direct-to-consumer (DTC) genetic testing companies. This emerging trend is the subject of this article, which begins by considering how rare-disease drugs are regulated and the rising interest in nonclinical genetic testing...
July 11, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28690889/imbalances-in-t-cell-related-transcription-factors-among-patients-with-hashimoto-s-thyroiditis
#12
Vahid Safdari, Ebrahim Alijani, Maryam Nemati, Abdollah Jafarzadeh
OBJECTIVES: Imbalances in effector T cell functioning have been associated with a number of autoimmune diseases, including Hashimoto's thyroiditis (HT). Differentiation of effector T helper (Th) 1, Th2, Th17 and regulatory T cell (Treg) lymphocytes is regulated by transcription factors, including Th1-specific T box (T-bet), GATA binding protein-3 (GATA3), retinoid-related orphan receptor (ROR)-α and forkhead box P3 (FOXP3). This study aimed to investigate Th1/Th2, Th1/Treg, Th2/Treg and Th17/Treg balances at the level of these transcription factors...
May 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/28687114/angioedema-an-orphan-symptom-with-its-own-orphan-disease
#13
EDITORIAL
Stephen A Tilles
No abstract text is available yet for this article.
August 2017: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/28687113/pharmacoeconomics-of-orphan-disease-treatment-with-a-focus-on-hereditary-angioedema
#14
REVIEW
William R Lumry
This article discusses orphan diseases, their prevalence, legislative incentives to encourage development of therapies, and the impact of treatment on health care payment systems. Specifically, the cost burden of hereditary angioedema on patients, health care systems, and society is reviewed. The impact of availability of and access to novel and specific therapies on morbidity, mortality, and overall burden of disease is explored. Changes in treatment paradigms to improve effect and reduce cost of treatment are presented...
August 2017: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/28683485/-therapeutic-options-in-keratoconus
#15
Frederik Raiskup, Janine Lenk, Robert Herber, Zisis Gatzioufas, Eberhard Spörl
A recent epidemiology study revealed that prevalence of keratoconus was much higher than previously assumed. Therefore, it is no longer deemed an "orphan disease", as it has a relevant socioeconomic impact on the healthcare system. One of the most important risk factors for developing keratoconus is chronic eye rubbing which, apart from other known risk factors such as atopy or Down's syndrome, is the only modifiable factor. Informing the patient and offering behavior modifying therapies seems to be essential...
July 6, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28682816/anaesthesia-and-orphan-disease-management-of-a-case-of-strumpell-lorrain-disease-and-review-of-the-literature
#16
Sebastien Ponsonnard, Alexandre Damon, Edouard Marcel Gueye
No abstract text is available yet for this article.
August 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28682813/anaesthesia-and-orphan-disease-series-what-is-the-yield
#17
Francis Veyckemans
No abstract text is available yet for this article.
August 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28678544/possible-involvement-of-orphan-receptors-gpr88-and-gpr124-in-the-development-of-hypertension-in-spontaneously-hypertensive-rat
#18
L Calderón-Zamora, A Ruiz-Hernandez, R Romero-Nava, N León-Sicairos, A Canizalez-Román, E Hong, F Huang, S Villafaña
Hypertension (HBP) is a chronic disease characterized by increased blood pressure, which despite several treatments maintains a high morbi-mortality, which suggests that there are other mechanisms involved in this pathology, within which the orphan receptors could be candidates for the treatment of the HBP; these receptors are called orphan receptors because their ligand is unknown. These receptors have been suggested to participate in some pathologies because they are associated with various systems such as GPR88, which has been linked to the dopaminergic system, and GPR124 with angiogenesis, suggesting that these receptors could take part in HBP...
July 5, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28676457/on-the-role-of-classical-and-novel-forms-of-vitamin-d-in-melanoma-progression-and-management
#19
REVIEW
Andrzej T Slominski, Anna A Brozyna, Cezary Skobowiat, Michal A Zmijewski, Tae-Kang Kim, Zorica Janjetovic, Allen S Oak, Wojciech Jozwicki, Anton M Jetten, Rebecca S Mason, Craig Elmets, We Li, Robert M Hoffman, Robert C Tuckey
Melanoma represents a significant clinical problem affecting a large segment of the population with a relatively high incidence and mortality rate. Ultraviolet radiation (UVR) is an important etiological factor in malignant transformation of melanocytes and melanoma development. UVB, while being a full carcinogen in melanomagenesis, is also necessary for the cutaneous production of vitamin D3 (D3). Calcitriol (1,25(OH)2D3) and novel CYP11A1-derived hydroxyderivatives of D3 show anti-melanoma activities and protective properties against damage induced by UVB...
July 1, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28672720/peripheral-nerve-sheath-tumors-the-orphan-disease-of-national-databases
#20
Panagiotis Kerezoudis, Mohamad Bydon, Robert J Spinner
No abstract text is available yet for this article.
July 2017: World Neurosurgery
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