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https://www.readbyqxmd.com/read/28916443/aq-13-an-investigational-antimalarial-versus-artemether-plus-lumefantrine-for-the-treatment-of-uncomplicated-plasmodium-falciparum-malaria-a-randomised-phase-2-non-inferiority-clinical-trial
#1
Ousmane A Koita, Lansana Sangaré, Haiyan D Miller, Aliou Sissako, Moctar Coulibaly, Trevor A Thompson, Saharé Fongoro, Youssouf Diarra, Mamadou Ba, Ababacar Maiga, Boubakar Diallo, David M Mushatt, Frances J Mather, Jeffrey G Shaffer, Asif H Anwar, Donald J Krogstad
BACKGROUND: Chloroquine was used for malaria treatment until resistant Plasmodium falciparum was identified. Because 4-aminoquinolines with modified side chains, such as AQ-13, are active against resistant parasites, we compared AQ-13 against artemether plus lumefantrine for treatment of uncomplicated P falciparum malaria. METHODS: We did a randomised, non-inferiority trial. We screened men (≥18 years) with uncomplicated malaria in Missira (northeast Mali) and Bamako (capital of Mali) for eligibility (≥2000 asexual P falciparum parasites per μL of blood)...
September 12, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28904822/a-parental-perspective-concerning-barriers-to-care-for-neural-tube-defects-in-china
#2
Andrew Campion, Clement Lee, Nan Bao, Jorge Lazareff
BACKGROUND: The People's Republic of China (PRC) has the highest incidence of neural tube defects (NTDs) in the world. NTDs remain a significant contributor to the global burden of disease amendable to surgical care; however, no studies to date have evaluated the patients' perspective regarding perceived barriers to care. METHODS: The study was conducted at the Shanghai Children's Medical Center (SCMC) between 6/11/2014 and 7/17/2014. Surveys were administered to families presenting to the clinic of the SCMC director for Pediatric Neurosurgery...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28901441/profiling-of-differentially-expressed-genes-in-adipose-tissues-of-multiple-symmetric-lipomatosis
#3
Ke Chen, Linghao Wang, Wenjun Yang, Changfa Wang, Gui Hu, Zhaohui Mo
Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by aberrant multiple and symmetric subcutaneous adipose tissue accumulation in the face, neck, shoulders, back, chest and abdomen, severely affecting the quality of life of patients. At present, precise MSL etiology and pathogenesis remain to be elucidated. The present study first utilized a digital gene expression technique with a next‑generation sequencing platform to profile differentially expressed genes in three cases of MSL vs. normal control tissue...
September 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28901277/repositioning-of-tak-475-in-mevalonate-kinase-disease-translating-theory-into-practice
#4
Annalisa Marcuzzi, Claudia Loganes, Claudio Celeghini, Giulio Kleiner
Mevalonate Kinase Deficiency (MKD, OMIM #610377) is a rare autosomal recessive metabolic and inflammatory disease. In MKD, defective function of the enzyme mevalonate kinase (MK), due to a mutation in the MVK gene, leads to the shortage of mevalonate-derived intermediates, which results in unbalanced prenylation of proteins and altered metabolism of sterols. These defects lead to a complex multisystem inflammatory and metabolic syndrome. Although biologic therapies aimed at blocking the inflammatory cytokine interleukin-1 (IL-1) can significantly reduce inflammation, they cannot completely control the clinical symptoms that affects the nervous system...
September 11, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28900816/critical-appraisal-of-genotype-assessment-in-molybdenum-cofactor-deficiency
#5
Katrin Hinderhofer, Konstantin Mechler, Georg F Hoffmann, Anette Lampert, William K Mountford, Markus Ries
INTRODUCTION: Molybdenum cofactor deficiency (MoCD) is an ultra-orphan, life-threatening disease. Substrate substitution therapy has successfully been performed in single cases of MoCD type A and clinical trials are underway for drug registration. We present an innovative approach for classification of genotype severity to test the hypothesis that milder sequence variants in MoCD result in a less severe disease phenotype quantitated by patient survival. METHODS: All available worldwide published cases with clinical and genetic data were included (n = 40)...
September 12, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28900043/a-natural-ligand-for-the-orphan-receptor-gpr15-modulates-lymphocyte-recruitment-to-epithelia
#6
Thomas Suply, Sébastien Hannedouche, Nathalie Carte, Jianping Li, Bianka Grosshans, Michael Schaefer, Layla Raad, Valérie Beck, Solange Vidal, Agnès Hiou-Feige, Noémie Beluch, Samuel Barbieri, Johann Wirsching, Nadine Lageyre, Frank Hillger, Corinne Debon, Janet Dawson, Philip Smith, Vincent Lannoy, Michel Detheux, Francis Bitsch, Rocco Falchetto, Tewis Bouwmeester, Jeffrey Porter, Birgit Baumgarten, Keith Mansfield, José M Carballido, Klaus Seuwen, Frédéric Bassilana
GPR15 is an orphan G protein-coupled receptor (GPCR) that is found in lymphocytes. It functions as a co-receptor of simian immunodeficiency virus and HIV-2 and plays a role in the trafficking of T cells to the lamina propria in the colon and to the skin. We describe the purification from porcine colonic tissue extracts of an agonistic ligand for GPR15 and its functional characterization. In humans, this ligand, which we named GPR15L, is encoded by the gene C10ORF99 and has some features similar to the CC family of chemokines...
September 12, 2017: Science Signaling
https://www.readbyqxmd.com/read/28893754/failures-to-further-developing-orphan-medicinal-products-after-designation-granted-in-europe-an-analysis-of-marketing-authorisation-failures-and-abandoned-drugs
#7
Viviana Giannuzzi, Annalisa Landi, Enrico Bosone, Floriana Giannuzzi, Stefano Nicotri, Josep Torrent-Farnell, Fedele Bonifazi, Mariagrazia Felisi, Donato Bonifazi, Adriana Ceci
OBJECTIVES: The research and development process in the field of rare diseases is characterised by many well-known difficulties, and a large percentage of orphan medicinal products do not reach the marketing approval.This work aims at identifying orphan medicinal products that failed the developmental process and investigating reasons for and possible factors influencing failures. DESIGN: Drugs designated in Europe under Regulation (European Commission) 141/2000 in the period 2000-2012 were investigated in terms of the following failures: (1) marketing authorisation failures (refused or withdrawn) and (2) drugs abandoned by sponsors during development...
September 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28889403/do-paediatric-investigation-plans-pips-advance-paediatric-healthcare
#8
Klaus Rose, Philip D Walson
Since 2007, new drugs need a paediatric investigation plan (PIP) for EU registration. The PIPs' justifications can be traced back to concerns expressed by Shirkey that label warnings against paediatric use made children "therapeutic orphans", and the American Academy of Pediatrics' claim that all children differ considerably from adults. US legislation first encouraged, then also required, separate, adult-style safety and efficacy studies in all paediatric subpopulations. This triggered paediatric regulatory studies by the pharmaceutical industry...
September 9, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28884035/cooccurrence-of-chorea-acanthocytosis-and-mesial-temporal-sclerosis-a-possible-role-of-caudate-nucleus
#9
Mehri Salari, Alexander C Lehn, Masoud Etemadifar, Seyed Amir Hejazi
Chorea-acanthocytosis (ChAc) is an orphan disease, caused by mutations on chromosome 9. Epileptic seizures of mesial temporal origin can be a predominant symptom. We report on a 29-year-old woman with ChAc and bilateral MTS. Previously, few patients with coexisting ChAc and MTS were reported. The underlying pathophysiology is unknown, and further studies are needed.
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28860486/a-systematic-analysis-of-orphan-cyclins-reveals-cntd2-as-a-new-oncogenic-driver-in-lung-cancer
#10
L Gasa, A Sanchez-Botet, E Quandt, S Hernández-Ortega, J Jiménez, M A Carrasco-García, S Simonetti, S J Kron, M P Ribeiro, E Nadal, A Villanueva, J Clotet
As lung cancer has increased to the most common cause of cancer death worldwide, prognostic biomarkers and effective targeted treatments remain lacking despite advances based on patients' stratification. Multiple core cyclins, best known as drivers of cell proliferation, are commonly deregulated in lung cancer where they may serve as oncogenes. The recent expansion of the cyclin family raises the question whether new members might play oncogenic roles as well. Here, we investigated the protein levels of eight atypical cyclins in lung cancer cell lines and formalin-fixed and paraffin-embedded (FFPE) human tumors, as well as their functional role in lung cancer cells...
August 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28858176/midterm-outcomes-of-12-renal-transplant-recipients-treated-with-eculizumab-to-prevent-atypical-hemolytic-syndrome-recurrence
#11
Charlène Levi, Véronique Frémeaux-Bacchi, Julien Zuber, Marion Rabant, Magali Devriese, Renaud Snanoudj, Anne Scemla, Lucile Amrouche, Arnaud Mejean, Christophe Legendre, Rebecca Sberro-Soussan
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is an orphan disease with a high rate of recurrence after kidney transplantation. However, reports of successful prevention of posttransplant aHUS recurrence with eculizumab emerged a few years ago. To further delineate its optimal use, we describe the largest series of kidney transplant recipients treated with prophylactic eculizumab. METHODS: Twelve renal transplant recipients with aHUS-related end stage renal disease received eculizumab: 10 from day 0 and 2 at the time of recurrence (days 6 and 25)...
August 25, 2017: Transplantation
https://www.readbyqxmd.com/read/28852705/the-sweat-metabolome-of-screen-positive-cystic-fibrosis-infants-revealing-mechanisms-beyond-impaired-chloride-transport
#12
Adriana N Macedo, Stellena Mathiaparanam, Lauren Brick, Katherine Keenan, Tanja Gonska, Linda Pedder, Stephen Hill, Philip Britz-McKibbin
The sweat chloride test remains the gold standard for confirmatory diagnosis of cystic fibrosis (CF) in support of universal newborn screening programs. However, it provides ambiguous results for intermediate sweat chloride cases while not reflecting disease progression when classifying the complex CF disease spectrum given the pleiotropic effects of gene modifiers and environment. Herein we report the first characterization of the sweat metabolome from screen-positive CF infants and identify metabolites associated with disease status that complement sweat chloride testing...
August 23, 2017: ACS Central Science
https://www.readbyqxmd.com/read/28851822/protein-kinase-n3-promotes-bone-resorption-by-osteoclasts-in-response-to-wnt5a-ror2-signaling
#13
Shunsuke Uehara, Nobuyuki Udagawa, Hideyuki Mukai, Akihiro Ishihara, Kazuhiro Maeda, Teruhito Yamashita, Kohei Murakami, Michiru Nishita, Takashi Nakamura, Shigeaki Kato, Yasuhiro Minami, Naoyuki Takahashi, Yasuhiro Kobayashi
Cytoskeletal reorganization in osteoclasts to form actin rings is necessary for these cells to attach to bone and resorb bone matrices. We delineated the pathway through which Wnt5a signaling through receptor tyrosine kinase-like orphan receptor 2 (Ror2) promoted the bone-resorbing activity of osteoclasts. Wnt5a binding to Ror2 stimulated Rho, a small GTPase involved in cytoskeletal reorganization. Subsequently, the Rho effector kinase Pkn3 bound to and enhanced the activity of c-Src, a nonreceptor tyrosine kinase that is critical for actin ring formation...
August 29, 2017: Science Signaling
https://www.readbyqxmd.com/read/28844954/optimising-the-clinical-strategy-for-autoimmune-liver-diseases-principles-of-value-based-medicine
#14
Marco Carbone, Laura Cristoferi, Paolo Angelo Cortesi, Matteo Rota, Antonio Ciaccio, Stefano Okolicsanyi, Marta Gemma, Luciana Scalone, Giancarlo Cesana, Luca Fabris, Michele Colledan, Stefano Fagiuoli, Gaetano Ideo, Luca Saverio Belli, Luca Maria Munari, Lorenzo Mantovani, Mario Strazzabosco
BACKGROUND: Autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing cholangitis represent the three major autoimmune liver diseases (AILDs). Their management is highly specialized, requires a multidisciplinary approach and often relies on expensive, orphan drugs. Unfortunately, their treatment is often unsatisfactory, and the care pathway heterogeneous across different centers. Disease-specific clinical outcome indicators (COIs) able to evaluate the whole cycle of care are needed to assist both clinicians and administrators in improving quality and value of care...
August 24, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28844095/pancreatic-panniculitis-and-polyarthritis
#15
REVIEW
Sebastian Zundler, Deike Strobel, Bernhard Manger, Markus F Neurath, Dane Wildner
PURPOSE OF REVIEW: Polyarthritis can have numerous reasons and may thus constitute a challenge for differential diagnosis. One rare potential reason for sterile polyarthritis is underlying pancreatic disease with systemic hyperlipasemia, most often accompanied by painful skin lesions caused by a subcutaneous inflammatory process known as panniculitis. Systematic evidence on pancreatic panniculitis and polyarthritis is limited, particularly regarding its feature as facultative paraneoplasia with underlying intra- or even extra-pancreatic malignancy...
August 26, 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28842709/the-parkinson-s-disease-associated-gpr37-receptor-interacts-with-striatal-adenosine-a2a-receptor-controlling-its-cell-surface-expression-and-function-in-vivo
#16
Xavier Morató, Rafael Luján, Marc López-Cano, Jorge Gandía, Igor Stagljar, Masahiko Watanabe, Rodrigo A Cunha, Víctor Fernández-Dueñas, Francisco Ciruela
G protein-coupled receptor 37 (GPR37) is an orphan receptor associated to Parkinson's disease (PD) neuropathology. Here, we identified GPR37 as an inhibitor of adenosine A2A receptor (A2AR) cell surface expression and function in vivo. In addition, we showed that GPR37 and A2AR do oligomerize in the striatum. Thus, a close proximity of GPR37 and A2AR at the postsynaptic level of striatal synapses was observed by double-labelling post-embedding immunogold detection. Indeed, the direct receptor-receptor interaction was further substantiated by proximity ligation in situ assay...
August 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28840666/high-yield-process-for-the-production-of-active-human-%C3%AE-galactosidase-a-in-cho-k1-cells-through-lentivirus-transgenesis
#17
María Celeste Rodríguez, Natalia Ceaglio, Sebastián Antuña, María Belén Tardivo, Marina Etcheverrigaray, Claudio Prieto
Fabry disease is an X-linked recessive disorder caused by a deficiency in lysosomal α-Galactosidase A. Currently, two enzyme replacement therapies (ERT) are available. However, access to orphan drugs continues to be limited by their high price. Selection of adequate high-expression systems still constitutes a challenge for alleviating the cost of treatments. Several strategies have been implemented, with varying success, trying to optimize the production process of recombinant human α-Galactosidase A (rhαGAL) in Chinese hamster ovary (CHO-K1) cells...
August 25, 2017: Biotechnology Progress
https://www.readbyqxmd.com/read/28839523/quantifying-the-persisting-orphan-drug-shortage-public-health-crisis-in-the-united-states
#18
Szymon Jarosławski, Chiraz Azaiez, Daria Korchagina, Mondher Toumi
Background: Orphan drugs (ODs) are pharmaceuticals manufactured for rare conditions that affect less than 200,000 people in the US. ODs are therefore produced in small quantities to meet sparse demand. Since 2010, OD shortages have become frequent, but no comprehensive, quantitative studies exist. Objective: The objective of this study is to assess the rates of OD shortages per therapeutic class and their trends over time in the United States. Study design: OD approvals were collected from publicly available information on the US Food and Drug Administration (FDA) website on 13 June 2016...
2017: Journal of Market Access & Health Policy
https://www.readbyqxmd.com/read/28835285/points-to-consider-efficacy-and-safety-evaluations-in-the-clinical-development-of-ultra-orphan-drugs
#19
Kojiro Maeda, Masayuki Kaneko, Mamoru Narukawa, Teruyo Arato
BACKGROUND: The unmet medical needs of individuals with very rare diseases are high. The clinical trial designs and evaluation methods used for 'regular' drugs are not applicable in the clinical development of ultra-orphan drugs (<1000 patients) in many cases. In order to improve the clinical development of ultra-orphan drugs, we examined several points regarding the efficient evaluations of drug efficacy and safety that could be conducted even with very small sample sizes, based on the review reports of orphan drugs approved in Japan...
August 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28828731/pharmacological-properties-and-biological-functions-of-the-gpr17-receptor-a-potential-target-for-neuro-regenerative-medicine
#20
Marta Fumagalli, Davide Lecca, Giusy T Coppolino, Chiara Parravicini, Maria P Abbracchio
In 2006, cells heterologously expressing the "orphan" receptor GPR17 were shown to acquire responses to both uracil nucleotides and cysteinyl-leukotrienes, two families of signaling molecules accumulating in brain or heart as a result of hypoxic/traumatic injuries. In subsequent years, evidence of GPR17 key role in oligodendrogenesis and myelination has highlighted it as a "model receptor" for new therapies in demyelinating and neurodegenerative diseases. The apparently contrasting evidence in the literature about the role of GPR17 in promoting or inhibiting myelination can be due to its transient expression in the intermediate stages of differentiation, exerting a pro-differentiating function in early oligodendrocyte precursor cells (OPCs), and an inhibitory role in late stage maturing cells...
August 22, 2017: Advances in Experimental Medicine and Biology
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