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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/28729439/striatal-gpr88-modulates-foraging-efficiency
#3
Aundrea Rainwater, Elisenda Sanz, Richard D Palmiter, Albert Quintana
The striatum is anatomically and behaviorally implicated in behaviors that promote efficient foraging. To investigate this function, we studied instrumental choice behavior in mice lacking GPR88, a striatum-enriched orphan G-protein-coupled receptor that modulates striatal medium spiny neuron (MSN) excitability. Our results reveal that hungry mice lacking GPR88 (KO mice) were slow to acquire food-reinforced lever-press, but could lever press similar to controls on a progressive-ratio schedule. Both WT and KO mice discriminated between reward and no-reward levers; however, KO mice failed to discriminate based on relative quantity- reward (1 versus 3 food pellets) or effort (3 versus 9 lever presses)...
July 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28728843/expression-and-prognostic-role-of-orphan-receptor-gpr110-in-glioma
#4
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/28723671/qishenyiqi-pill-attenuates-atherosclerosis-by-promoting-regulatory-t-cells-inhibiting-t-helper-17-cells-and-accelerating-cholesterol-excretion
#5
Li Peng, Chong-Shan Lv, Yun Zhao, Shao-Dong Chen, Yang Huang, Da-Wei Lu, Shu-Qiong Huang, Zong-Bao Yang, Lin-Chao Qian, Lei Wen
OBJECTIVE: The aim of this study was to explore potential immunoregulatory mechanisms underlying the suppressive effect on atherosclerosis of QiShenYiQi pill (QSYQ). METHODS AND RESULTS: Male ApoE-/- mice were maintained on a Western-type diet and QSYQ treatment for eight weeks. Determination of atherosclerosis demonstrated that QSYQ attenuated plaque formation and decreased the level of blood low-density lipoproteins-cholesterol. QSYQ treatment did not affect body weight but reduced the ratio of liver weight and body weight...
July 7, 2017: Oncotarget
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
#6
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
#7
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/28719498/incidence-of-active-tuberculosis-and-cohort-retention-among-adolescents-in-western-kenya
#8
Videlis Nduba, Anna H Van't Hoog, Ellen M H Mitchell, Martien Borgdorff, Kayla F Laserson
SETTING: Siaya County, with the highest tuberculosis notification rates in Kenya. OBJECTIVE: To determine the incidence of active tuberculosis and one year cohort retention in 12-18 year old adolescents, in preparation for Phase III tuberculosis vaccine trials. METHODS: Adolescents were enrolled and followed up for 1-2 years to determine tuberculosis incidence. Adolescents with a positive tuberculin skin test (TST), history of cohabitation with a tuberculosis case, or at least one tuberculosis symptom received clinical and sputum examination and a chest radiograph...
July 14, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28716760/properties-of-purified-cyp2r1-in-a-reconstituted-membrane-environment-and-its-25-hydroxylation-of-20-hydroxyvitamin-d3
#9
Chloe Y S Cheng, Tae-Kang Kim, Saowanee Jeayeng, Andrzej T Slominski, Robert C Tuckey
Recent studies indicate that CYP2R1 is the major 25-hydroxylase catalyzing the first step in vitamin D activation. Since the catalytic properties of CYP2R1 have been poorly studied to date and it is a membrane protein, we examined the purified enzyme in a membrane environment. CYP2R1 was expressed in E. coli and purified by nickel affinity- and hydrophobic interaction-chromatography and assayed in a reconstituted membrane system comprising phospholipid vesicles plus purified human NADPH-P450 oxidoreductase...
July 14, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28714809/reticence-in-disclosure-of-hiv-infection-and-reasons-for-bereavement-impact-on-perinatally-infected-adolescents-mental-health-and-understanding-of-hiv-treatment-and-prevention-in-johannesburg-south-africa
#10
Nataly Woollett, Vivian Black, Lucie Cluver, Heena Brahmbhatt
Survival rates of perinatally infected HIV-positive adolescents (PIA) are increasing in sub-Saharan Africa. There is a gap in understanding how disclosure and bereavement have an impact on PIA beliefs and understanding of their HIV infection and its management. In-depth interviews were conducted with 25 purposively selected adolescents aged 13-19 years from 5 public health clinics in Johannesburg, South Africa. Data were analysed using NVivo 10 using a thematic approach. PIA experience incomplete disclosure both of their HIV status and reasons for their bereavements, which limits their understanding of how they became infected, vertical transmission and prevention options like prevention of mother-to-child transmission (PMTCT)...
July 17, 2017: African Journal of AIDS Research: AJAR
https://www.readbyqxmd.com/read/28713412/the-emerging-oilseed-crop-sesamum-indicum-enters-the-omics-era
#11
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/28712648/elucidating-biochemical-features-and-biological-roles-of-streptomyces-proteins-recognizing-crystalline-chitin-and-cellulose-types-and-their-soluble-derivatives
#12
Hildgund Schrempf
Pioneering biochemical, immunological, physiological and microscopic studies in combination with gene cloning allowed uncovering previously unknown genes encoding proteins of streptomycetes to target crystalline chitin and cellulose as well as their soluble degradation-compounds via binding protein dependent transporters. Complementary analyses provoked an understanding of novel regulators governing transcription of selected genes. These discoveries induced detecting close and distant homologues of former orphan proteins encoded by genes from different bacteria...
June 20, 2017: Carbohydrate Research
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
#13
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
#14
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/28704638/regulator-of-calcineurin-3-ameliorates-autoimmune-arthritis-by-suppressing-th17-cell-differentiation
#15
Jin-Sil Park, Jeong-Hee Jeong, Jae-Kyeong Byun, Mi-Ae Lim, Eun-Kyung Kim, Sung-Min Kim, Si-Young Choi, Sung-Hwan Park, Jun-Ki Min, Mi-La Cho
Regulator of calcineurin 3 (RCAN3), an endogenous regulator of the calcineurin-nuclear factor of activated T cells (NFAT) signaling pathway, inhibits the phosphatase activity of calcineurin, the nuclear translocation of NFAT, and the NFAT downstream pathway. To investigate the effects of RCAN3 on T-cell regulatory function and the development and progression of inflammatory arthritis, we studied the effects of RCAN3 transfection on regulation of Th17 cell differentiation in a murine T-lymphoma cell line and primary splenic CD4(+) T cells...
July 10, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28704574/unveiling-the-target-promiscuity-of-pharmacologically-active-compounds-in-silico
#16
Petra Schneider, Gisbert Schneider
Drug discovery is governed by the desire to find ligands with defined modes of action. It has been realized that even designated selective drugs may have more macromolecular targets than is commonly thought. Consequently, it will be mandatory to consider multi-target activity for the design of future medicines. Computational models assist medicinal chemists in this effort by helping to eliminate unsuitable lead structures and spot undesired drug effects early in the discovery process. Here, we present a straightforward computational method to find previously unknown targets of pharmacologically active compounds...
July 13, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28704165/specific-monoclonal-antibody-against-bcr-abl-out-of-frame-alternative-proteins-as-diagnostic-tool-in-chronic-myelogenous-leukemia-patients
#17
Claudia Casnici, Katia Crotta, Gisella Volpe, Cristina Panuzzo, Donatella Lattuada, Giulia Mesiano, Giuseppe Saglio, Ornella Marelli
More recently, alternative splicing of specific genes are investigated for their therapeutic potential. In particular, we reported the existence of BCR-ABL alternative splicing isoforms, in about 80% of Philadelphia-positive patients, which lead to the expression of aberrant proteins. These fusion proteins are characterized by an orphan initial and correct Bcr portion attached to a 112 amino acid sequence, arising from the impairment in the reading frame (reading of ABL exon 4 and 5). We demonstrated that these Abl-out-of-frame (OOF) isoforms could have an immunological role with therapeutic implications...
July 13, 2017: Monoclonal Antibodies in Immunodiagnosis and Immunotherapy
https://www.readbyqxmd.com/read/28700108/gpr88-in-a2a-receptor-expressing-neurons-modulates-locomotor-response-to-dopamine-agonists-but-not-sensorimotor-gating
#18
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/28699051/-assessing-the-added-benefit-of-new-ophthalmic-drugs-which-additional-insights-can-be-extracted-from-the-early-benefit-assessment
#19
REVIEW
M Appelrath, G Glaeske
Until now six ophthalmic agents have undergone the German early benefit assessment according to § 35a Social Security Code (SGB) V in a total of eleven indications. Only one agent (ocriplasmin) was recognized by the Federal Joint Committee as having an added benefit based on submitted study data for a subpopulation (indication of a considerable added benefit, limited for 5 years) and another agent, idebenone, received an added benefit due to its orphan drug designation (proof of a not quantifiable added benefit, limited for 2 years)...
July 11, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28698385/retinoic-acid-receptor-related-orphan-receptor-alpha-stimulates-adipose-tissue-inflammation-by-modulating-endoplasmic-reticulum-stress
#20
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
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