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5 results on '"Varadachary, A"'

2. The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy

Author

Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peitz, SW, Ryan, MM, Kornberg, AJ, RodriguezCasero, V, Wray, A, Jones, KJ, North, K, Goemans, N, Buyse, GM, Campbell, C, Mah, J, Sarnat, H, Selby, K, Voit, T, Doppler, V, De Castro, D, Chabrol, B, Levy, N, Halbert, C, Pereon, Y, Magot, A, Perrier, J, Mahe, JY, Schara, U, Lutz, S, Busse, M, Della Marina, A, Kirschner, J, Stanescu, A, Pohl, A, RensingZimmerman, C, Bertini, E, D'Amico, A, Kofler, A, Carlesi, A, Bonetti, AM, Santecchia, L, Emma, F, Bergami, G, Mercuri, EM, Vasco, G, Bianco, F, Mazzone, ES, De Sanctis, R, Alfieri, P, Pane, M, Messina, S, Comi, GP, Magri, F, Lucchini, V, Corti, SP, Moggio, MG, Sciacco, M, Bresolin, N, Prelle, AC, Magri, R, Virgilio, R, Lamperti, C, Nevo, Y, DorWollman, T, Vilchez, J, Muelas, N, Sevilla, T, Smeyers, P, de la Osa, A, Colomer, J, Ortez, CI, Nascimento, A, Febrer, A, Medina, J, Tulinus, M, Thorarinsdottir, B, Darin, N, Sejersen, T, Hovmoller, M, Bushby, K, Straub, V, Guglieri, M, Sarkozy, A, Willis, T, Eagle, M, Mayhew, A, Muntoni, F, Cirak, S, Manzur, AY, Robb, SA, Kinali, M, Quinlivan, RCM, Smith, MR, Pandey, R, Wong, B, Collins, J, Finkel, R, Bonnemann, C, Yang, M, Foley, AR, Yum, S, Sampson, J, Bromberg, M, Swoboda, K, Day, J, Karachunski, P, Mathews, K, Bonthius, D, Laubenthal, KS, Darras, B, Kang, P, Parson, J, Barohn, R, Dasouki, M, Anderson, H, Burns, J, Dimachkie, M, Pasnoor, M, Wang, YX, Ciafaloni, E, Heatwole, C, Connolly, A, Pestronk, A, Al-Lozi, M, Lopate, G, Golumbek, P, Sommerville, B, Wang, L, Wojcicka-Mitchell, A, Godbey, A, Harms, M, Varadachary, A, Iyadurai, S, Rojas, L, Iannacone, S, Khonghatithum, C, Sproule, D, De Vivo, D, Constantinescu, A, McDonald, C, Han, J, Ben Renfroe, Russman, B, Sussman, M, BurnsWechsler, S, Juel, V, Hobson-Webb, L, Smith, E, Ataluren Phase 2b Study Grp, Schara, Ulrike (Beitragende*r), and Marina, Adela Della (Beitragende*r)

Subjects
Male, 0301 basic medicine, Adolescent, Duchenne muscular dystrophy, Nonsense mutation, Medizin, Neuropsychological Tests, 030105 genetics & heredity, Article, Young Adult, 03 medical and health sciences, Exon, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Genotype, Memory span, medicine, Humans, Child, Genetics, biology, Promoter, Duchenne, medicine.disease, Muscular Dystrophy, Duchenne, Cross-Sectional Studies, Memory, Short-Term, Codon, Nonsense, Child, Preschool, Mutation (genetic algorithm), biology.protein, Neurology (clinical), Dystrophin, 030217 neurology & neurosurgery
Abstract

ObjectiveTo evaluate the relationship between deficit in digit span and genotype in nonsense mutation (nm) Duchenne muscular dystrophy (DMD) (nmDMD).MethodsWe investigated the relationship between normalized digit-span forward (d-sf) and digit-span backward (d-sb) scores to the location of nmDMD mutations in 169 participants ≥5 to ≤20 years who participated in a phase 2b clinical trial. Because alternative promoters are found upstream of DMD exons 30, 45, and 63, we correlated d-sf and d-sb to the specific nmDMD mutation location.ResultsParticipants with nm downstream of exon 30, downstream of exon 45, and downstream of exon 63 had significantly lower normalized d-sf scores (p < 0.0001). Participants with nm downstream of exon 45 in addition had significantly lower normalized d-sb score (p < 0.04). There was no significant difference in the normalized d-sb score in participants with mutations upstream or downstream of DMD exon 30 or upstream or downstream of DMD exon 63.ConclusionOur data provide evidence that specific cognitive deficits correlate to genotype in individuals with nmDMD, highlighting the critical role of brain-specific dystrophin isoforms in the neurobiological manifestations of this disease.Clinicaltrials.gov identifierNCT02090959.

Published
2018
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3. Tradition-bound fragrance

Author

Krishnaswamy, Now Mani and Suguna, Suguna Varadachary And

Subjects
Ethnic, cultural, racial issues/studies, Philosophy and religion
Published
2000

4. Cost-effectiveness of gene-expression profiling for tumor-site origin

Author

John Hornberger, Ashwini Shewade, Shawn Becker, W. David Henner, Gauri Varadachary, Stephen S. Raab, Hialy R. Gutierrez, and Irina Degtiar

Subjects
Male, medicine.medical_specialty, Time Factors, Cost effectiveness, medicine.medical_treatment, Cost-Benefit Analysis, diagnostic, Antineoplastic Agents, Neoplasms, cancer, Medicine, Humans, cost-effectiveness, Survival rate, health care economics and organizations, Aged, Retrospective Studies, business.industry, Health Policy, Gene Expression Profiling, Public Health, Environmental and Occupational Health, Retrospective cohort study, Health Care Costs, Middle Aged, Chemotherapy regimen, United States, Quality-adjusted life year, Surgery, Radiation therapy, Survival Rate, oncology, Emergency medicine, Practice Guidelines as Topic, gene expression, unknown primary, Quality of Life, pathology, Observational study, Female, Quality-Adjusted Life Years, business, microarray, Medicaid
Abstract

ObjectivesGene-expression profiling (GEP) reliably supplements traditional clinicopathological information on the tissue of origin (TOO) in metastatic or poorly differentiated cancer. A cost-effectiveness analysis of GEP TOO testing versus usual care was conducted from a US third-party payer perspective.MethodsData on recommendation changes for chemotherapy, surgery, radiation therapy, blood tests, imaging investigations, and hospice care were obtained from a retrospective, observational study of patients whose physicians received GEP TOO test results. The effects of chemotherapy recommendation changes on survival were based on the results of trials cited in National Comprehensive Cancer Network and UpToDate guidelines. Drug and administration costs were based on average doses reported in National Comprehensive Cancer Network guidelines. Other unit costs came from Centers for Medicare & Medicaid Services fee schedules. Quality-of-life weights were obtained from literature. Bootstrap analysis estimated sample variability; probabilistic sensitivity analysis addressed parameter uncertainty.ResultsChemotherapy regimen recommendations consistent with guidelines for final tumor-site diagnoses increased significantly from 42% to 65% (net difference 23%; P

Published
2011

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