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https://www.readbyqxmd.com/read/29159075/enzyme-replacement-therapy-in-perinatal-hypophosphatasia-case-report-of-a-negative-outcome-and-lessons-for-clinical-practice
#1
Gregory Costain, Aideen M Moore, Lauren Munroe, Alison Williams, Randi Zlotnik Shaul, Cheryl Rockman-Greenberg, Martin Offringa, Peter Kannu
Enzyme replacement therapy (ERT) is a newly approved disease-modifying treatment for hypophosphatasia (HPP), a rare metabolic bone disorder. With an orphan drug and ultra-rare disease, sharing information about responders and non-responders is particularly important, as any one centre's familiarity with its use will be limited. Nearly all published data in infants and very young children with life-threatening HPP are from three small clinical trials that have reported generally positive outcomes. We describe in detail a patient with perinatal HPP for whom treatment with ERT was not successful...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29158679/treatment-of-pulmonary-hypertension-with-left-heart-disease-a-concise-review
#2
REVIEW
Anish Desai, Shilpa A Desouza
Pulmonary hypertension (PH) is defined by a mean pulmonary artery pressure ≥ 25 mmHg, as determined by right heart catheterization. Pulmonary arterial hypertension (PAH) can no longer be considered an orphan disease given the increase in awareness and availability of new drugs. PH carries with it a dismal prognosis and leads to significant morbidity and mortality. Symptoms can range from dyspnea, fatigue and chest pain to right ventricular failure and death. PH is divided into five groups by the World Health Organization (WHO), based on etiology...
2017: Vascular Health and Risk Management
https://www.readbyqxmd.com/read/29156787/natural-compound-bavachalcone-promotes-the-differentiation-of-endothelial-progenitor-cells-and-neovascularization-through-the-ror%C3%AE-erythropoietin-ampk-axis
#3
Shuang Ling, Rong-Zhen Ni, Yunyun Yuan, Yan-Qi Dang, Qian-Mei Zhou, Shuang Liang, Fujiang Guo, Wei Feng, Yuanyuan Chen, Katsumi Ikeda, Yukio Yamori, Jin-Wen Xu
In cardiovascular diseases, endothelial function is impaired and the level of circulating endothelial progenitor cells (EPCs) is low. This study investigated whether the natural bioactive component bavachalcone (BavaC) induces the differentiation of EPCs and neovascularization in vivo; the underlying mechanisms were also examined. We observed that the treatment of rat bone marrow-derived cells with a very low dose of BavaC significantly promoted EPC differentiation. In our hindlimb ischemia models, low-dose BavaC administered orally for 14 days stimulated the recovery of ischemic hindlimb blood flow, increased circulating EPCs, and promoted capillary angiogenesis...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29155882/pharmacological-inhibition-of-ror%C3%AE-t-suppresses-the-th17-pathway-and-alleviates-arthritis-in-vivo
#4
Ulf Guendisch, Jessica Weiss, Florence Ecoeur, Julia Christina Riker, Klemens Kaupmann, Joerg Kallen, Samuel Hintermann, David Orain, Janet Dawson, Andreas Billich, Christine Guntermann
Retinoic acid receptor-related-orphan-receptor-C (RORγt) is the key transcription factor that is driving the differentiation of IL-17 producing T-helper 17 (Th17) cells that are implicated in the pathology of various autoimmune and inflammatory diseases. Based on the importance of RORγt in promoting Th17-driven pathology, there is considerable interest to develop low-molecular-weight compounds with the aim of inhibiting the transcriptional activity of this nuclear hormone receptor. In this article, we describe the in vitro and in vivo pharmacology of a potent and selective small-molecular-weight RORγt inverse agonist...
2017: PloS One
https://www.readbyqxmd.com/read/29150864/seeing-is-believing-a-review-of-apheresis-therapy-in-the-treatment-of-ophthalmologic-disease
#5
Brendan C Graham, Jose S Pulido, Jeffrey L Winters
Apheresis procedures have a role in treatment of disparate diseases involving many different organ systems. Often the disease processes where apheresis plays a role in treatment are considered "orphan diseases"-relatively rare disease processes that lack specific pharmaceutical agents or established treatment protocols. Many of these disease processes can affect the eye with devastating results for the eyesight of these patients. The unique ability of apheresis to affect disease by modifying blood plasma and modulating disease-causing agents therein renders apheresis procedures valuable tools in the treatment of certain ophthalmologic diseases...
November 18, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/29149824/the-role-of-gene-therapy-in-the-treatment-of-retinal-diseases-a-review
#6
Claudio Campa, Carla Enrica Gallenga, Elena Bolletta, Paolo Perri
Background: Gene therapy represents the therapeutic delivery of nucleic acid polymers into a patient's cells with the aim of treating an underlying disease. Over the past 2 decades this new therapy has made substantial progress owing to better understanding of the pathobiologic basis of various diseases coupled with growth of gene transfer biotechnologies. The eye, in particular, represents a suitable target for such therapy due to the immune privilege provided by the blood-ocular barrier, the ability to directly visualize, access and locally treat the cells and the minimal amount of vector needed given the size of this organ...
November 16, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29147032/emptying-the-stores-lysosomal-diseases-and-therapeutic-strategies
#7
REVIEW
Frances M Platt
Lysosomal storage disorders (LSDs) - designated as 'orphan' diseases - are inborn errors of metabolism caused by defects in genes that encode proteins involved in various aspects of lysosomal homeostasis. For many years, LSDs were viewed as unattractive targets for the development of therapies owing to their low prevalence. However, the development and success of the first commercial biologic therapy for an LSD - enzyme replacement therapy for type 1 Gaucher disease - coupled with regulatory incentives rapidly catalysed commercial interest in therapeutically targeting LSDs...
November 17, 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/29140654/proposed-industry-best-practices-in-development-and-marketing-of-medical-foods-for-the-management-of-chronic-conditions-and-diseases-while-awaiting-regulation
#8
Bruce Burnett, Robert M Levy
Ideal therapeutics have low toxicity and can effectively manage condition(s) or disease(s). The Food & Drug Administration (FDA) marketing category of therapeutics called “medical foods” (MFs) meets such a definition. Medical foods have existed in Federal law since passage the Orphan Drug Act in 1988, which created a category of nutritional therapeutics separate from drugs. Unfortunately, MFs are not widely understood by the medical community or utilized in all patients who need them due to lack of a FDA-approval process, unclear and contradictory guidance especially with regard for need for an investigational new drug (IND) application, and no clear regulations regarding their development and marketing...
2017: Food and Drug Law Journal
https://www.readbyqxmd.com/read/29137646/the-potential-of-interleukin-37-as-an-effective-therapeutic-agent-in-asthma
#9
REVIEW
Lina Zhang, Jie Zhang, Peng Gao
Interleukin (IL)-37 belongs to the IL-1 cytokine family. It binds to IL-18Rα and recruits the orphan decoy IL-1R8. Emerging evidence shows that IL-37 is a key player in the regulation of inflammation, cellular differentiation, and proliferation. Altered IL-37 expression has been demonstrated in many inflammatory disease conditions, including asthma. In rheumatoid arthritis, IL-37 is involved in the regulation of proliferation, production of inflammatory mediators, and activation of inflammatory cells. Furthermore, this cytokine acts as a negative regulator of inflammation in inflammatory bowel disease...
November 14, 2017: Respiratory Research
https://www.readbyqxmd.com/read/29129392/targeting-obesity-and-cachexia-identification-of-the-gfral-receptor-mic-1-gdf15-pathway
#10
Samuel N Breit, Vicky Wang-Wei Tsai, David A Brown
Macrophage inhibitory cytokine-1/growth differentiation factor 15 (MIC-1/GDF15) is a divergent transforming growth factor (TGFβ) superfamily cytokine implicated in biological and disease processes including metabolism, cancer, and chronic inflammation, but whose receptor has remained elusive. Four laboratories have recently identified GFRAL, an orphan receptor of the glial-derived neurotrophic factor (GDNF) receptor α family, as the receptor for MIC-1/GDF15, signaling though the coreceptor Ret. These data identify a new systemic to central nervous system (CNS) circuit that regulates metabolism in response to stress and which could be targeted to treat both severe obesity and anorexia/cachexia syndrome...
November 9, 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/29124014/a-molecular-analysis-of-the-gaa-gene-and-clinical-spectrum-in-38-patients-with-pompe-disease-in-japan
#11
Yasuyuki Fukuhara, Naoko Fuji, Narutoshi Yamazaki, Asami Hirakiyama, Tetsuharu Kamioka, Joo-Hyun Seo, Ryuichi Mashima, Motomichi Kosuga, Torayuki Okuyama
Pompe disease is an autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, which results in the accumulation of glycogen in lysosomes in multiple tissues, including cardiac, skeletal, and smooth muscle cells. Thus far, 558 sequence variants of the GAA gene have been published in the Pompe Disease Mutation Database, and some mutations appear with considerable frequency in particular ethnic groups, such as Caucasians, Taiwanese, Chinese, and Koreans. However, the GAA mutation pattern in Japanese patients remains poorly understood...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29121519/iguratimod-ameliorates-inflammatory-responses-by-modulating-the-th17-treg-paradigm-in-dextran-sulphate-sodium-induced-murine-colitis
#12
Xue-Pei Jiang, Xie-Lin Huang, Zao-Peng Yang, Shun-Cai Wang, Wei Xie, Lei Miao, Li Tang, Zhi-Ming Huang
Inflammatory bowel disease (IBD) is an autoimmune disease with an abnormal and persistent immune response. Iguratimod, a novel anti-rheumatic drug, exhibits anti-inflammatory effects and regulates immune response. The role of iguratimod in intestinal mucosal inflammation and immunity has not been examined. The aim of this study was to investigate whether iguratimod ameliorates dextran sulphate sodium (DSS)-induced murine colitis and its potential regulatory mechanism. Murine colitis was induced by administering 2...
November 6, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/29113816/hdac2-suppresses-il17a-mediated-airway-remodeling-in-human-and-experimental-modeling-of-copd
#13
Tianwen Lai, Baoping Tian, Chao Cao, Yue Hu, Jiesen Zhou, Yong Wang, Yanping Wu, Zhouyang Li, Xuchen Xu, Min Zhang, Feng Xu, Yuan Cao, Min Chen, Dong Wu, Bin Wu, Chen Dong, Wen Li, Songmin Ying, Zhihua Chen, Huahao Shen
BACKGROUND: Airway remodeling is a central feature of chronic obstructive pulmonary disease (COPD), but the mechanisms underlying its development have not been fully elucidated. OBJECTIVE: To determine whether histone deacetylase (HDAC) 2 protects against cigarette smoke (CS)-induced airway remodeling through IL17A-dependent mechanisms. METHODS: Sputum samples and lung tissues were obtained from control subjects and patients with COPD. The relationships between HDAC2, IL17A, and airway remodeling were investigated...
November 4, 2017: Chest
https://www.readbyqxmd.com/read/29110168/caregiver-quality-of-life-with-tyrosinemia-type-1
#14
Hailey Campbell, Rani H Singh, Eric Hall, Nadia Ali
Tyrosinemia type I (HT1) is an inborn error of metabolism (IEM). Current management guidelines include lifelong specialized diet and use of the orphan drug, nitisinone. This study explores the quality of life (QOL) of caregivers of children with HT1. Caregivers for 26 children with HT1 completed a questionnaire (TYR-QOL) adapted to this patient population from an existing validated QOL questionnaire (PKU-QOL). Responses were analyzed via domain scores, based on predetermined scoring guidelines. Results suggest HT1 has a moderate overall impact on caregiver QOL, with emotional aspects of the disease having the greatest impact...
November 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29110094/mapping-gpr88-venus-illuminates-a-novel-role-for-gpr88-in-sensory-processing
#15
Aliza T Ehrlich, Meriem Semache, Julie Bailly, Stefan Wojcik, Tanzil M Arefin, Christine Colley, Christian Le Gouill, Florence Gross, Viktoriya Lukasheva, Mireille Hogue, Emmanuel Darcq, Laura-Adela Harsan, Michel Bouvier, Brigitte L Kieffer
GPR88 is an orphan G-protein coupled receptor originally characterized as a striatal-enriched transcript and is a potential target for neuropsychiatric disorders. At present, gene knockout studies in the mouse have essentially focused on striatal-related functions and a comprehensive knowledge of GPR88 protein distribution and function in the brain is still lacking. Here, we first created Gpr88-Venus knock-in mice expressing a functional fluorescent receptor to fine-map GPR88 localization in the brain. The receptor protein was detected in neuronal soma, fibers and primary cilia depending on the brain region, and remarkably, whole-brain mapping revealed a yet unreported layer-4 cortical lamination pattern specifically in sensory processing areas...
November 6, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/29102679/cutaneous-t-cell-lymphomas-focusing-on-novel-agents-in-relapsed-and-refractory-disease
#16
REVIEW
Lisa Argnani, Alessandro Broccoli, Pier Luigi Zinzani
Patients with relapsed or refractory cutaneous T-cell lymphoma (CTCL) display a dismal prognosis and their therapy represents an unmet medical need, as the best treatment strategy is yet to be determined. Exciting data on novel targeted agents are now emerging from recently concluded and ongoing clinical trials in patients with relapsed and refractory CTCL. Three FDA approved compounds are used as single agents including the oral retinoid bexarotene and histone deacetylase inhibitors romidepsin and vorinostat...
December 2017: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/29100553/translatability-score-revisited-differentiation-for-distinct-disease-areas
#17
REVIEW
Alexandra Wendler, Martin Wehling
BACKGROUND: Translational science supports successful transition of early biomedical research into human applications. In 2009 a translatability score to assess risk and identify strengths and weaknesses of a given project has been designed and successfully tested in case studies. The score elements, in particular the contributing weight factors, are heterogeneous for different disease areas; therefore, the score was individualized for six areas (cardiovascular, oncology, psychiatric, anti-viral, anti-bacterial/fungal and monogenetic diseases)...
November 3, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29094395/estrogen-receptor-signaling-in-prostate-cancer-implications-for-carcinogenesis-and-tumor-progression
#18
REVIEW
Helmut Bonkhoff
BACKGROUND: The androgen receptor (AR) is the classical target for prostate cancer prevention and treatment, but more recently estrogens and their receptors have also been implicated in prostate cancer development and tumor progression. METHODS: Recent experimental and clinical data were reviewed to elucidate pathogenetic mechanisms how estrogens and their receptors may affect prostate carcinogenesis and tumor progression. RESULTS: The estrogen receptor beta (ERβ) is the most prevalent ER in the human prostate, while the estrogen receptor alpha (ERα) is restricted to basal cells of the prostatic epithelium and stromal cells...
November 2, 2017: Prostate
https://www.readbyqxmd.com/read/29091800/nothing-but-net-a-review-of-neuroendocrine-tumors-and-carcinomas
#19
REVIEW
Bryan Oronsky, Patrick C Ma, Daniel Morgensztern, Corey A Carter
This review covers the diverse topic of neuroendocrine neoplasms (NENs), a relatively rare and heterogeneous tumor type, comprising ~2% of all malignancies, with a prevalence of <200,000 in the United States, which makes it an orphan disease (Basu et al., 2010).(1) For functional purposes, NENs are divided into two groups on the basis of clinical behavior, histology, and proliferation rate: well differentiated (low grade to intermediate grade) neuroendocrine tumors and poorly differentiated (high grade) neuroendocrine carcinoma (Bosman et al...
October 29, 2017: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/29089318/comparative-analysis-of-the-scope-of-european-union-paediatric-investigation-plans-with-corresponding-orphan-designations
#20
Andrea Ecker, Segundo Mariz, Frauke Naumann-Winter, Koenraad Norga, Ingeborg Barisic, Thomas Girard, Paolo Tomasi, Dirk Mentzer, Bruno Sepodes
BACKGROUND: Market forces may not be sufficient to stimulate research and development of medicines for small patient populations, such as children and patients with rare diseases. Both the European Union Orphan and Paediatric Regulations were introduced to address the unmet public health needs of these smaller patient populations through the use of incentives, rewards and obligations. Developers for new medicines for rare diseases must agree a paediatric investigation plan (PIP) or waiver with the European Medicines Agency's (EMA) Paediatric Committee (PDCO), and can also apply for an orphan designation (OD) from the EMA's Committee of Orphan Medicinal Products (COMP)...
October 31, 2017: Archives of Disease in Childhood
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