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https://www.readbyqxmd.com/read/28930139/critical-analysis-on-characterization-systemic-effect-and-therapeutic-potential-of-beta-sitosterol-a-plant-derived-orphan-phytosterol
#1
REVIEW
Muhammad Shahdaat Bin Sayeed, Selim Muhammad Rezaul Karim, Tasnuva Sharmin, Mohammed Monzur Morshed
Beta-sitosterol (BS) is a phytosterol, widely distributed throughout the plant kingdom and known to be involved in the stabilization of cell membranes. To compile the sources, physical and chemical properties, spectral and chromatographic analytical methods, synthesis, systemic effects, pharmacokinetics, therapeutic potentials, toxicity, drug delivery and finally, to suggest future research with BS, classical as well as on-line literature were studied. Classical literature includes classical books on ethnomedicine and phytochemistry, and the electronic search included Pubmed, SciFinder, Scopus, the Web of Science, Google Scholar, and others...
November 15, 2016: Medicines (Basel, Switzerland)
https://www.readbyqxmd.com/read/28924872/-alzheimer-s-disease-from-auguste-deter-to-the-present-progress-disappointments-and-open-questions
#2
REVIEW
Johannes Pantel
AIM: The present article aims to provide a short overview of the discovery history, conceptual development, as well as on current neurobiological and pharmacological research questions in the field of Alzheimer's disease (AD). In view of the long hoped for but so far unachieved therapeutic breakthrough, this also includes a critical reflection of current research paradigms. MATERIAL AND METHODS: Starting from the first case report described by Alois Alzheimer in 1906, the historical impact of his seminal discovery is reconstructed...
September 18, 2017: Zeitschrift Für Gerontologie und Geriatrie
https://www.readbyqxmd.com/read/28924487/a-novel-stop-mutation-p-gln22-of-dax1-nr0b1-results-in-late-onset-x-linked-adrenal-hypoplasia-congenita
#3
Judith Gerards, Michael M Ritter, Elke Kaminsky, Andreas Gal, Wolfgang Hoeppner, Marcus Quinkler
DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with delayed puberty. However, patients with a late-onset form of X-linked AHC have also been described in the past years...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28921431/cell-free-production-of-protein-biologics-within-24-h
#4
Challise J Sullivan, Erik D Pendleton, John Dresios
Protein biologics have emerged as a safe and effective group of drug products that can be used in a variety of medical disorders and clinical settings, including treatment of orphan diseases, personalized medicine, and point-of-care applications. However, the full potential of protein biologics for such applications will not be realized until there are methods available for rapid and cost-effective production of small scale products for individual needs. Here, we describe a modular and scalable method for rapid and adaptable production of protein-based medical products at small doses...
2018: Methods in Molecular Biology
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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