33 results on '"Martines, R"'
Search Results
2. Cessation of infliximab and its relation to new alternatives: a correspondence analysis of biologics, reasons to stop, and time periods: 308
- Author
-
Uceda, J., Carmona, L., Martines, R., Hernandez, R., Rodriguez, S., and Marenco, J. L.
- Published
- 2012
Catalog
3. Neuroplasticity and second messenger pathways in antidepressant efficacy: pharmacogenetic results from a prospective trial investigating treatment resistance
- Author
-
Fabbri, C, Crisafulli, C, Calati, R, Albani, D, Forloni, G, Calabro, M, Martines, R, Kasper, S, Zohar, J, Juven-Wetzler, A, Souery, D, Montgomery, S, Mendlewicz, J, Serretti, A, Fabbri C, Crisafulli C, Calati R, Albani D, Forloni G, Calabro M, Martines R, Kasper S, Zohar J, Juven-Wetzler A, Souery D, Montgomery S, Mendlewicz J, Serretti A, Fabbri, C, Crisafulli, C, Calati, R, Albani, D, Forloni, G, Calabro, M, Martines, R, Kasper, S, Zohar, J, Juven-Wetzler, A, Souery, D, Montgomery, S, Mendlewicz, J, Serretti, A, Fabbri C, Crisafulli C, Calati R, Albani D, Forloni G, Calabro M, Martines R, Kasper S, Zohar J, Juven-Wetzler A, Souery D, Montgomery S, Mendlewicz J, and Serretti A more...
- Abstract
Genes belonging to neuroplasticity, monoamine, circadian rhythm, and transcription factor pathways were investigated as modulators of antidepressant efficacy. The present study aimed (1) to replicate previous findings in an independent sample with treatment-resistant depression (TRD), and (2) to perform a pathway analysis to investigate the possible molecular mechanisms involved. 220 patients with major depressive disorder who were non-responders to a previous antidepressant were treated with venlafaxine for 4-6 weeks and in case of non-response with escitalopram for 4-6 weeks. Symptoms were assessed using the Montgomery Asberg Depression Rating Scale. The phenotypes were response and remission to venlafaxine, non-response (TRDA) and non-remission (TRDB) to neither venlafaxine nor escitalopram. 50 tag SNPs in 14 genes belonging to the pathways of interest were tested for association with phenotypes. Molecular pathways (KEGG database) that included one or more of the genes associated with the phenotypes were investigated also in the STAR*D sample. The associations between ZNF804A rs7603001 and response, CREB1 rs2254137 and remission were replicated, as well as CHL1 rs2133402 and lower risk of TRD. Other CHL1 SNPs were potential predictors of TRD (rs1516340, rs2272522, rs1516338, rs2133402). The MAPK1 rs6928 SNP was consistently associated with all the phenotypes. The protein processing in endoplasmic reticulum pathway (hsa04141) was the best pathway that may explain the mechanisms of MAPK1 involvement in antidepressant response. Signals in genes previously associated with antidepressant efficacy were confirmed for CREB1, ZNF804A and CHL1. These genes play pivotal roles in synaptic plasticity, neural activity and connectivity. more...
- Published
- 2017
4. Vital Signs: Update on Zika Virus–Associated Birth Defects and Evaluation of All U.S. Infants with Congenital Zika Virus Exposure — U.S. Zika Pregnancy Registry, 2016
- Author
-
Reynolds, M. R., Jones, A. M., Petersen, E. E., Lee, E. H., Rice, M. E., Bingham, A., Ellington, S. R., Evert, N., Reagan-Steiner, S., Oduyebo, T., Brown, C. M., Martin, S., Ahmad, N., Bhatnagar, J., Macdonald, J., Gould, C., Fine, A. D., Polen, K. D., Lake-Burger, H., Hillard, C. L., Hall, N., Mahsa Yazdy, Slaughter, K., Sommer, J. N., Adamski, A., Raycraft, M., Fleck-Derderian, S., Gupta, J., Newsome, K., Baez-Santiago, M., Slavinski, S., White, J. L., Moore, C. A., Shapiro-Mendoza, C. K., Petersen, L., Boyle, C., Jamieson, D. J., Meaney-Delman, D., Honein, M. A., Adair, J., Ruberto, I., Haselow, D. T., Im, L., Jilek, W., Lehmann, M. S., Olney, R., Porse, C. C., Ramstrom, K. C., Sowunmi, S., Marzec, N. S., Davis, K., Esponda-Morrison, B., Zachariah Fraser, M., O’connor, C. A., Chung, W., Richardson, F., Sexton, T., Stocks, M. E., Woldai, S., Bundek, A. M., Zambri, J., Goldberg, C., Eisenstein, L., Jackson, J., Kopit, R., Logue, T., Mendoza, R., Feldpausch, A., Graham, T., Mann, S., Park, S. Y., Carter, K. K., Potts, E. J., Stevens, T., Simonson, S., Tonzel, J. L., Davis, S., Robinson, S., Hyun, J. K., Jenkins, E. M., Piccardi, M., Reid, L. D., Dunn, J. E., Higgins, C. A., Lin, A. E., Munshi, G. S., Sandhu, K., Scotland, S. J., Soliva, S., Copeland, G., Signs, K. A., Schiffman, E., Byers, P., Hand, S., Mulgrew, C. L., Hamik, J., Koirala, S., Ludwig, L. A., Fredette, C. R., Garafalo, K., Worthington, K., Ropri, A., Ade, J. N., Alaali, Z. S., Blog, D., Brunt, S. J., Bryant, P., Burns, A. E., Carson, K., Dupuis, A. P., Sullivan-Frohm, A., Griffin, J., Hidalgo, C., Lance, L. A., Many, P. S., Naizby, B. E., Polfleit, M. J., Rahman, T., Rem, T., Robbins, A. E., Rowlands, J. V., Seaver, C., Seward, K. A., Smith, L., Sohi, I., Wester, R. E., Bush, S., Dean, A. B., Demarest, V., Dufort, E. M., Furuya, A. M., Fuschino, M., Kulas, K. E., Lamson, D. M., Lee, W. T., Limberger, R., Marchewka, M. J., Popowich, M., St George, K., Wong, S. J., Zeng, L., Glaze, V. H., Souto, M. I., Ackelsberg, J., Alex, B., Ballen, V., Baumgartner, J., Bloch, D., Clark, S., Conners, E., Cooper, H., Davidson, A., Dentinger, C., Deocharan, B., Vito, A., Fu, J., Hrusa, G., Iqbal, M., Iwamoto, M., Jones, L., Kubinson, H., Lash, M., Layton, M., Lee, C. T., Liu, D., Mcgibbon, E., Moy, M., Ngai, S., Parton, H. B., Peterson, E., Poy, J., Rakeman, J., Stoute, A., Thompson, C., Weiss, D., Westheimer, E., Winters, A., Younis, M., Chan, R. L., Cronquist, L. J., Caton, L., Lind, L., Nalluswami, K., Perella, D., Brady, D. S., Gosciminski, M., Mcauley, P., Drociuk, D., Leedom, V., Witrick, B., Bollock, J., Hartel, M. B., Lucinski, L. S., Mcdonald, M., Miller, A. M., Ponson, T. A., Price, L., Nance, A. E., Peterson, D., Cook, S., Martin, B., Oltean, H., Neary, J., Baker, M. A., Cummons, K., Bryan, K., Arnold, K. E., Arth, A. C., Bollweg, B. C., Cragan, J. D., Dawson, A. L., Denison, A. M., Dziuban, E. J., Estetter, L., Silva-Flannery, L., Free, R. J., Galang, R. R., Gary, J., Goldsmith, C. S., Green, C., Hale, G. L., Hayes, H. M., Igbinosa, I., Kelly Keating, M., Khan, S., Kim, S. Y., Lampe, M., Lewis, A., Mai, C., Martines, R. B., Miers, B., Moore, J., Muehlenbachs, A., Nahabedian, J., Panella, A., Parihar, V., Patel, M. M., Brett Rabeneck, D., Rasmussen, S. A., Ritter, J. M., Rollin, D. C., Sanders, J. H., Shieh, W. -J, Simeone, R. M., Simon, E. L., Sims, J. R., Spivey, P. J., Talley-Mcrae, H., Tshiwala, A. K., Maldeghem, K., Viens, L., Wainscott-Sargent, A., Williams, T., and Zaki, S. more...
- Subjects
0301 basic medicine ,Gerontology ,medicine.medical_specialty ,Microcephaly ,Health (social science) ,Epidemiology ,Health, Toxicology and Mutagenesis ,Vital signs ,Congenital Abnormalities ,Zika virus ,03 medical and health sciences ,Fetus ,0302 clinical medicine ,Health Information Management ,Central Nervous System Diseases ,Pregnancy ,Humans ,Medicine ,Eye Abnormalities ,Neural Tube Defects ,Registries ,030212 general & internal medicine ,Pregnancy Complications, Infectious ,Pregnancy registry ,biology ,Vital Signs ,Zika Virus Infection ,business.industry ,Obstetrics ,Public health ,Infant, Newborn ,Brain ,Infant ,Gestational age ,Zika Virus ,General Medicine ,biology.organism_classification ,medicine.disease ,United States ,030104 developmental biology ,Female ,business - Abstract
Background In collaboration with state, tribal, local, and territorial health departments, CDC established the U.S. Zika Pregnancy Registry (USZPR) in early 2016 to monitor pregnant women with laboratory evidence of possible recent Zika virus infection and their infants. Methods This report includes an analysis of completed pregnancies (which include live births and pregnancy losses, regardless of gestational age) in the 50 U.S. states and the District of Columbia (DC) with laboratory evidence of possible recent Zika virus infection reported to the USZPR from January 15 to December 27, 2016. Birth defects potentially associated with Zika virus infection during pregnancy include brain abnormalities and/or microcephaly, eye abnormalities, other consequences of central nervous system dysfunction, and neural tube defects and other early brain malformations. Results During the analysis period, 1,297 pregnant women in 44 states were reported to the USZPR. Zika virus-associated birth defects were reported for 51 (5%) of the 972 fetuses/infants from completed pregnancies with laboratory evidence of possible recent Zika virus infection (95% confidence interval [CI] = 4%-7%); the proportion was higher when restricted to pregnancies with laboratory-confirmed Zika virus infection (24/250 completed pregnancies [10%, 95% CI = 7%-14%]). Birth defects were reported in 15% (95% CI = 8%-26%) of fetuses/infants of completed pregnancies with confirmed Zika virus infection in the first trimester. Among 895 liveborn infants from pregnancies with possible recent Zika virus infection, postnatal neuroimaging was reported for 221 (25%), and Zika virus testing of at least one infant specimen was reported for 585 (65%). Conclusions and implications for public health practice These findings highlight why pregnant women should avoid Zika virus exposure. Because the full clinical spectrum of congenital Zika virus infection is not yet known, all infants born to women with laboratory evidence of possible recent Zika virus infection during pregnancy should receive postnatal neuroimaging and Zika virus testing in addition to a comprehensive newborn physical exam and hearing screen. Identification and follow-up care of infants born to women with laboratory evidence of possible recent Zika virus infection during pregnancy and infants with possible congenital Zika virus infection can ensure that appropriate clinical services are available. more...
- Published
- 2017
- Full Text
- View/download PDF
5. Clinical reactions to experimentally induced peri-implantitis in beagle dogs: 188
- Author
-
Martines, R, Sendyk, R, Gromatzky, A, Cury, P, Sarzedo, R, and G, Di Giacomo
- Published
- 2007
6. Genetics of psychotropic medication induced side effects in two independent samples of bipolar patients
- Author
-
Fabbri, C, Souery, D, Calati, R, Crisafulli, C, Chierchia, A, Albani, D, Forloni, G, Chiesa, A, Martines, R, Sentissi, O, Mendlewicz, J, De Girolamo, G, Serretti, A, Fabbri C, Souery D, Calati R, Crisafulli C, Chierchia A, Albani D, Forloni G, Chiesa A, Martines R, Sentissi O, Mendlewicz J, De Girolamo G, Serretti A, Fabbri, C, Souery, D, Calati, R, Crisafulli, C, Chierchia, A, Albani, D, Forloni, G, Chiesa, A, Martines, R, Sentissi, O, Mendlewicz, J, De Girolamo, G, Serretti, A, Fabbri C, Souery D, Calati R, Crisafulli C, Chierchia A, Albani D, Forloni G, Chiesa A, Martines R, Sentissi O, Mendlewicz J, De Girolamo G, and Serretti A more...
- Abstract
The treatment of bipolar disorder (BD) usually requires combination therapies, with the critical issue of the emergence of adverse drug reactions (ADRs) and the possibility of low treatment adherence. Genetic polymorphisms are hypothesized to modulate the pharmacodynamics of psychotropic drugs, representing potential biological markers of ADRs. This study investigated genes involved in the regulation of neuroplasticity (BDNF, ST8SIA2), second messenger cascades (GSK3B, MAPK1, and CREB1), circadian rhythms (RORA), transcription (SP4, ZNF804A), and monoaminergic system (HTR2A and COMT) in the risk of neurological, psychic, autonomic, and other ADRs. Two independent samples of BD patients naturalistically treated were included (COPE-BD n = 147; STEP-BD n = 659). In the COPE-BD 34 SNPs were genotyped, while in the STEP-BD polymorphisms in the selected genes were extracted from the genome-wide dataset. Each ADRs group was categorized as absent-mild or moderate-severe and logistic regression with appropriate covariates was applied to identify possible risk genotypes/alleles. 58.5 and 93.5 % of patients were treated with mood stabilizers, 44.2 and 50.7 % were treated with antipsychotics, and 69.4 and 46.1 % were treated with antidepressants in the COPE-BD and STEP-BD, respectively. Our findings suggested that ST8SIA2 may be associated with psychic ADRs, as shown in the COPE-BD (rs4777989 p = 0.0017) and STEP-BD (rs56027313, rs13379489 and rs10852173). A cluster of RORA SNPs around rs2083074 showed an effect on psychic ADRs in the STEP-BD. Trends supporting the association between HTR2A and autonomic ADRs were found in both samples. Confirmations are needed particularly for ST8SIA2 and RORA since the few available data regarding their role in relation to psychotropic ADRs. more...
- Published
- 2015
7. Genetic variants within neuronal cell adhesion genes and antidepressant response in three independent groups
- Author
-
Martines, R, Fabbri, C, Crisafulli, C, Gurwitz, D, Stingl, J, Calati, R, Albani, D, Forloni, G, Calabrò, M, Kasper, S, Zohar, J, Juven-Welzler, A, Souery, D, Montgomery, S, Mendlewicz, J, De Girolamo, G, Serretti, A, Martines R, Fabbri C, Crisafulli C, Gurwitz D, Stingl J, Calati R, Albani D, Forloni G, Calabrò M, Kasper S, Zohar J, Juven-Welzler A, Souery D, Montgomery S, Mendlewicz J, De Girolamo G, Serretti A, Martines, R, Fabbri, C, Crisafulli, C, Gurwitz, D, Stingl, J, Calati, R, Albani, D, Forloni, G, Calabrò, M, Kasper, S, Zohar, J, Juven-Welzler, A, Souery, D, Montgomery, S, Mendlewicz, J, De Girolamo, G, Serretti, A, Martines R, Fabbri C, Crisafulli C, Gurwitz D, Stingl J, Calati R, Albani D, Forloni G, Calabrò M, Kasper S, Zohar J, Juven-Welzler A, Souery D, Montgomery S, Mendlewicz J, De Girolamo G, and Serretti A more...
- Published
- 2015
8. Neuroplasticity and Second Messenger Pathways in Antidepressant Efficacy: Pharmacogenetic Results from a Prospective Trial Investigating Treatment Resistance
- Author
-
Fabbri, C, Crisafulli, C, Gurwitz, D, Stingl, J, Calati, R, Albani, D, Forloni, G, Calabro, M, Martines, R, Kasper, S, Zohar, J, Juven-Welzler, A, Souery, D, Montgomery, S, Mendlewicz, J, Serretti, A, Fabbri C, Crisafulli C, Gurwitz D, Stingl J, Calati R, Albani D, Forloni G, Calabro M, Martines R, Kasper S, Zohar J, Juven-Welzler A, Souery D, Montgomery S, Mendlewicz J, Serretti A, Fabbri, C, Crisafulli, C, Gurwitz, D, Stingl, J, Calati, R, Albani, D, Forloni, G, Calabro, M, Martines, R, Kasper, S, Zohar, J, Juven-Welzler, A, Souery, D, Montgomery, S, Mendlewicz, J, Serretti, A, Fabbri C, Crisafulli C, Gurwitz D, Stingl J, Calati R, Albani D, Forloni G, Calabro M, Martines R, Kasper S, Zohar J, Juven-Welzler A, Souery D, Montgomery S, Mendlewicz J, and Serretti A more...
- Published
- 2015
9. Genetic variants within neuronal cell adhesion genes and antidepressant response in three independent groups
- Author
-
Martines R, Fabbri C, Crisafulli C, Gurwitz D, Stingl J, Calati R, Albani D, Forloni G, Calabrò M, Kasper S, Zohar J, Juven-Welzler A, Souery D, Montgomery S, Mendlewicz J, De Girolamo G, Serretti A, Martines, R, Fabbri, C, Crisafulli, C, Gurwitz, D, Stingl, J, Calati, R, Albani, D, Forloni, G, Calabrò, M, Kasper, S, Zohar, J, Juven-Welzler, A, Souery, D, Montgomery, S, Mendlewicz, J, De Girolamo, G, and Serretti, A more...
- Subjects
Depression, genes, antidepressant response, STAR*D - Published
- 2015
10. Neuroplasticity and Second Messenger Pathways in Antidepressant Efficacy: Pharmacogenetic Results from a Prospective Trial Investigating Treatment Resistance
- Author
-
Fabbri C, Crisafulli C, Gurwitz D, Stingl J, Calati R, Albani D, Forloni G, Calabro M, Martines R, Kasper S, Zohar J, Juven-Welzler A, Souery D, Montgomery S, Mendlewicz J, Serretti A, Fabbri, C, Crisafulli, C, Gurwitz, D, Stingl, J, Calati, R, Albani, D, Forloni, G, Calabro, M, Martines, R, Kasper, S, Zohar, J, Juven-Welzler, A, Souery, D, Montgomery, S, Mendlewicz, J, and Serretti, A more...
- Subjects
Pharmacogenetic ,Antidepressant ,Neuroplasticity ,Polymorphism ,Treatment-resistant depression ,Gene - Published
- 2015
11. Esigenze Strategiche nella Città Metropolitana di Roma
- Author
-
Filippucci, E, Elisei, P, de Roo Joep, Sept, A, Llop, C, Batunova, E, Dimitriu, S, Del Piano Alessandro, Pratt, A, Apeil Muller Mirelle, Marcatili, M, Prezioso, M, Montino, E, Martines, R, Marini, N, Ombuen, S, Ginocchini, G, Donato, V, Tortoriello, F, and Leodori, D more...
- Subjects
Strategic Planning, EU, Metropolitan area, sustainable development ,sustainable development ,Settore M-GGR/02 - Geografia Economico-Politica ,Pianificazione Strategica, UE, area metropolitana, sviluppo sostenibile ,sviluppo sostenibile ,Metropolitan area ,Pianificazione Strategica ,area metropolitana ,UE ,EU ,Strategic Planning - Published
- 2016
12. The Transport of Gmelina Logs on the Rio Dulce
- Author
-
Ensminger, J.T., primary, Martines, R., additional, Perlack, B., additional, and Ranney, J., additional
- Published
- 1997
- Full Text
- View/download PDF
13. American cutaneous leishmaniasis: In situ immune response of patients with recent and late lesions
- Author
-
Gomes, A. H. S., primary, Martines, R. B., additional, Kanamura, C. T., additional, Barbo, M. L. P., additional, Iglezias, S. D., additional, Lauletta Lindoso, J. A., additional, and Pereira-Chioccola, V. L., additional more...
- Published
- 2017
- Full Text
- View/download PDF
14. The SIRT1 promoter polymorphic site rs12778366 increases IL-6 related human mortality in the prospective study 'Treviso Longeva (TRELONG)'
- Author
-
Albani, D., Mazzuco, S., Chierchia, A., Fusco, F., LUCIA BOERI, Martines, R., Di Giorgi, E., Frigato, A., Durante, E., Caberlotto, L., Zanardo, A., Siculi, M., Gallucci, M., and Forloni, G.
- Subjects
SIRT1 ,longevity ,genetics ,prospective study ,rs12778366 ,Original Article - Abstract
Studies on sirtuins (SIRT), a family of proteins with deacetylase activity, have provided convergent evidence of the key role of these enzymes in aging-linked physiological functions. The link between SIRT1 and longevity has emerged in model organism but few data are available in humans, in particular relying on longitudinal studies. Here, we assessed whether a genetic variant within SIRT1 gene promoter (rs12778366) was associated to human longevity. We analyzed 586 genomic DNA (gDNA) collected in the study “Treviso Longeva” (TRELONG), including elderly over 70 years of age from the municipality of Treviso, a town in the Northeast of Italy, with a 11-year follow-up. We genotyped SIRT1 rs12778366 by real-time polymerase chain reaction (RT-PCR) allelic discrimination assay. A cross-sectional analysis performed by comparing people over and under 85 years of age did not evidence association between rs12778366 and longevity. When we performed a longitudinal analysis considering mortality as dependent variable, we did not observe an association of rs12778366 with longevity in the whole population (corrected P-value = 0.33). However, when we stratified the TRELONG subjects according to circulating level of interleukin-6 (IL-6), a predictor of disability and mortality, we found that rs12778366 (TC+CC) carriers were at increased risk of mortality in comparison to the TT reference group (corrected P-value = 0.03, HR 1.47). Our data do not support a major role of rs12778366 in human longevity, but the stratified analysis on IL-6 suggests that this variant may be involved in the detrimental effect of high circulating IL-6 in the elderly. more...
- Published
- 2015
15. Discrete- vs. Continuous-Time Nonlinear Signal Processing: Attractors, Transitions and Parallel Implementation Issues
- Author
-
Rico-Martines, R., primary, Kevrekidis, I. G., additional, Kube, M. C., additional, and Hudson, J. L., additional
- Published
- 1993
- Full Text
- View/download PDF
16. Acquisition electronic system for visualization, registering and filtering of ECG signals
- Author
-
Martines, R. E., David, R. C., Juan M. Vilardy Ortiz, Torres, C. O., and Mattos, L.
17. Evaluation of placental and fetal tissue specimens for Zika virus infection — 50 states and district of Columbia, January-December, 2016
- Author
-
Reagan-Steiner, S., Simeone, R., Simon, E., Bhatnagar, J., Oduyebo, T., Free, R., Denison, A. M., Rabeneck, D. B., Ellington, S., Petersen, E., Gary, J., Hale, G., Keating, M. K., Martines, R. B., Muehlenbachs, A., Ritter, J., Lee, E., Davidson, A., Conners, E., Scotland, S., Sandhu, K., Bingham, A., Kassens, E., Smith, L., St George, K., Ahmad, N., Tanner, M., Beavers, S., Miers, B., Maldeghem, K., Khan, S., Rabe, I., Gould, C., Meaney-Delman, D., Honein, M. A., Shieh, W. -J, Jamieson, D. J., Fischer, M., Zaki, S. R., Kretschmer, M., Tarter, K., Yaglom, H., Alhajmohammad, S., Chhabra, D., Jilek, W., Madala, M., Messenger, S., Porse, C. C., Salas, M., Singh, D., Skallet, S., Sowunmi, S., Marzec, N. S., Davis, K., Esponda-Morrison, B., Fraser, M. Z., O’connor, C. A., Chung, W. M., Richardson, F., Stocks, M. E., Bundek, A. M., Zambri, M. L., Allen, A., Etienne, M. K., Jackson, J., Landis, V., Logue, T., Muse, N., Prieto, J., Rojas, M., Feldpausch, A., Graham, T., Mann, S., Park, S. Y., Freeman, D., Potts, E. J., Stevens, T., Simonson, S., Tonzel, J. L., Davis, S., Robinson, S., Hyun, J. K., Jenkins, E. M., Brown, C., Soliva, S., Schiffman, E., Byers, P., Hand, S., Mulgrew, C. L., Hamik, J., Koirala, S., Ludwig, E., Fredette, C. R., Mathewson, A. A., Garafalo, K., Worthington, K., Ropri, A., Bloch, D., Clark, S., Cooper, H., Fine, A. D., Hrusa, G., Iwamoto, M., Kubinson, H., Lee, C. T., Slavinski, S., Wilson, E., Winters, A., Yang, D. Y., Ade, J. N., Alaali, Z., Alvarez, K., Backenson, P. B., Blog, D., Dean, A., Dufort, E., Furuya, A. M., Fuschino, M., Hull, R., Kleabonas, M., Kulas, K., Kurpiel, P., Lance, L. A., Leak, E., Limberger, R. J., Ostrowski, S., Polfleit, M., Robbins, A., Rowlands, J. V., Sohi, I., Sommer, J. N., White, J., Wiley, D., Zeng, L., Chan, R. L., Macfarquhar, J., Cronquist, L., Lind, L., Nalluswami, K., Perella, D., Brady, D. S., Gosciminski, M., Mcauley, P., Teevan, B. E., Drociuk, D., Leedom, V., Witrick, B., Bollock, J., Kightlinger, L., Hartel, M. B., Lucinski, L. S., Mcdonald, M., Miller, A. M., Ponson, T. A., Price, L., Broussard, K., Nance, A. E., Peterson, D., Martin, B., Browne, S., Griffin-Thomas, L. A., Macdonald, J. O., Neary, J., Oltean, H., Adamski, A., Baez-Santiago, M., Bollweg, B. C., Cragan, J. D., Ermias, Y., Estetter, L. B. C., Fleck-Derderian, S., Goldsmith, C. S., Groenewold, M. R., Hayes, H., Igbinosa, I., Jenkinson, T. G., Jones, A. M., Lewis, A., Moore, C. A., Newsome, K. B., Parihar, V., Patel, M. M., Paulino, A., Rasmussen, S. A., Raycraft, M., Reynolds, M. R., Rollin, D. C., Sanders, J. H., Shapiro-Mendoza, C., Silva-Flannery, L., Spivey, P., Tshiwala, A. K., Williams, T. R., Bower, W. A., Davlantes, E., Forward, T. R., Fukunaga, R., Hines, J., Hu, S. S., Leung, J., Lewis, L., Martin, S., Mcnamara, L., Omura, J. D., Robinson, C. L., Schmit, K., Self, J. L., Shah, M., Straily, A., Dyne, E. A., Vu, M., and Williams, C. more...
18. Genetics of psychotropic medication induced side effects in two independent samples of bipolar patients
- Author
-
Daniel Souery, Diego Albani, Concetta Crisafulli, Alessandro Serretti, Armando Chierchia, Julien Mendlewicz, Rosalba Martines, Chiara Fabbri, Alberto Chiesa, Othman Sentissi, Gianluigi Forloni, Giovanni de Girolamo, Raffaella Calati, Fabbri, C., Souery, D., Calati, R., Crisafulli, C., Chierchia, A., Albani, D., Forloni, G., Chiesa, A., Martines, R., Sentissi, O., Mendlewicz, J., De Girolamo, G., Serretti, A., Fabbri, C, Souery, D, Calati, R, Crisafulli, C, Chierchia, A, Albani, D, Forloni, G, Chiesa, A, Martines, R, Sentissi, O, Mendlewicz, J, De Girolamo, G, and Serretti, A more...
- Subjects
Adult ,Male ,medicine.medical_specialty ,Bipolar Disorder ,Drug-Related Side Effects and Adverse Reactions ,Genotype ,medicine.drug_class ,Side effect Gene Pharmacogenetics Antipsychotic Antidepressant Mood stabilizer ,medicine.medical_treatment ,Sp4 Transcription Factor ,Single-nucleotide polymorphism ,Genome-wide association study ,Pharmacology ,Catechol O-Methyltransferase ,Polymorphism, Single Nucleotide ,Treatment of bipolar disorder ,Glycogen Synthase Kinase 3 ,Internal medicine ,Humans ,Medicine ,Genetic Predisposition to Disease ,Receptor, Serotonin, 5-HT2A ,Bipolar disorder ,Antipsychotic ,Biological Psychiatry ,Aged ,Psychotropic Drugs ,Glycogen Synthase Kinase 3 beta ,business.industry ,Brain-Derived Neurotrophic Factor ,Psychotropic Drug ,Nuclear Receptor Subfamily 1, Group F, Member 1 ,Mood stabilizer ,Middle Aged ,medicine.disease ,Psychiatry and Mental health ,Neurology ,Antidepressant ,Female ,Neurology (clinical) ,Drug-Related Side Effects and Adverse Reaction ,business ,Pharmacogenetics ,Genome-Wide Association Study ,Human ,Signal Transduction - Abstract
The treatment of bipolar disorder (BD) usually requires combination therapies, with the critical issue of the emergence of adverse drug reactions (ADRs) and the possibility of low treatment adherence. Genetic polymorphisms are hypothesized to modulate the pharmacodynamics of psychotropic drugs, representing potential biological markers of ADRs. This study investigated genes involved in the regulation of neuroplasticity (BDNF, ST8SIA2), second messenger cascades (GSK3B, MAPK1, and CREB1), circadian rhythms (RORA), transcription (SP4, ZNF804A), and monoaminergic system (HTR2A and COMT) in the risk of neurological, psychic, autonomic, and other ADRs. Two independent samples of BD patients naturalistically treated were included (COPE-BD n = 147; STEP-BD n = 659). In the COPE-BD 34 SNPs were genotyped, while in the STEP-BD polymorphisms in the selected genes were extracted from the genome-wide dataset. Each ADRs group was categorized as absent-mild or moderate-severe and logistic regression with appropriate covariates was applied to identify possible risk genotypes/alleles. 58.5 and 93.5 % of patients were treated with mood stabilizers, 44.2 and 50.7 % were treated with antipsychotics, and 69.4 and 46.1 % were treated with antidepressants in the COPE-BD and STEP-BD, respectively. Our findings suggested that ST8SIA2 may be associated with psychic ADRs, as shown in the COPE-BD (rs4777989 p = 0.0017) and STEP-BD (rs56027313, rs13379489 and rs10852173). A cluster of RORA SNPs around rs2083074 showed an effect on psychic ADRs in the STEP-BD. Trends supporting the association between HTR2A and autonomic ADRs were found in both samples. Confirmations are needed particularly for ST8SIA2 and RORA since the few available data regarding their role in relation to psychotropic ADRs. more...
- Published
- 2014
- Full Text
- View/download PDF
19. Neuronal cell adhesion genes and antidepressant response in three independent samples
- Author
-
Giovanni de Girolamo, Julia C. Stingl, R Calati, J. Zohar, Daniel Souery, Alzbeta Juven-Wetzler, David Gurwitz, Chiara Fabbri, Marco Calabrò, Stuart Montgomery, Siegfried Kasper, Alessandro Serretti, Julien Mendlewicz, Concetta Crisafulli, Gianluigi Forloni, Rosalba Martines, Diego Albani, Fabbri, C., Crisafulli, C., Gurwitz, D., Stingl, J., Calati, R., Albani, D., Forloni, G., Calabrò, M., Martines, R., Kasper, S., Zohar, J., Juven-Wetzler, A., Souery, D., Montgomery, S., Mendlewicz, J., Girolamo, G.D., Serretti, A, Fabbri, C, Crisafulli, C, Gurwitz, D, Stingl, J, Calati, R, Albani, D, Forloni, G, Calabro, M, Martines, R, Kasper, S, Zohar, J, Juven-Wetzler, A, Souery, D, Montgomery, S, Mendlewicz, J, and Girolamo, G more...
- Subjects
Male ,L1 ,Genotype ,Neuronal ,Cell Adhesion Molecules, Neuronal ,Integrin ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,CHL1 ,GAP-43 Protein ,Cell Adhesion ,Genetics ,Humans ,Polymorphism ,Cell adhesion ,Gene ,Pharmacology ,Depressive Disorder, Major ,Depressive Disorder ,Cell adhesion molecule ,Integrin beta3 ,Major ,Single Nucleotide ,Middle Aged ,Genes, antidepressant response, treatment-resistant depression, STAR*D ,Phenotype ,Antidepressive Agents ,Antidepressive Agents, Biomarkers, Cell Adhesion, Cell Adhesion Molecules, Cell Adhesion Molecules, Neuronal, Depressive Disorder, Major ,Female, GAP-43 Protein, Genome-Wide Association Study, Genotype, Humans, Integrin beta3, Male, Middle Aged ,Polymorphism, Single Nucleotide, Molecular Medicine, Genetics, Pharmacology ,biology.protein ,Molecular Medicine ,Female ,Cell Adhesion Molecules ,Biomarkers ,Genome-Wide Association Study - Abstract
Drug-effect phenotypes in human lymphoblastoid cell lines recently allowed to identify CHL1 (cell adhesion molecule with homology to L1CAM), GAP43 (growth-associated protein 43) and ITGB3 (integrin beta 3) as new candidates for involvement in the antidepressant effect. CHL1 and ITGB3 code for adhesion molecules, while GAP43 codes for a neuron-specific cytosolic protein expressed in neuronal growth cones; all the three gene products are involved in synaptic plasticity. Sixteen polymorphisms in these genes were genotyped in two samples (n = 369 and 90) with diagnosis of major depressive episode who were treated with antidepressants in a naturalistic setting. Phenotypes were response, remission and treatment-resistant depression. Logistic regression including appropriate covariates was performed. Genes associated with outcomes were investigated in the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) genome-wide study (n = 1861) as both individual genes and through a pathway analysis (Reactome and String databases). Gene-based analysis suggested CHL1 rs4003413, GAP43 rs283393 and rs9860828, ITGB3 rs3809865 as the top candidates due to their replication across the largest original sample and the STAR*D cohort. GAP43 molecular pathway was associated with both response and remission in the STAR*D, with ELAVL4 representing the gene with the highest percentage of single nucleotide polymorphisms (SNPs) associated with outcomes. Other promising genes emerging from the pathway analysis were ITGB1 and NRP1. The present study was the first to analyze cell adhesion genes and their molecular pathways in antidepressant response. Genes and biomarkers involved in neuronal adhesion should be considered by further studies aimed to identify predictors of antidepressant response. Drug-effect phenotypes in human lymphoblastoid cell lines recently allowed to identify CHL1 (cell adhesion molecule with homology to L1CAM), GAP43 (growth-Associated protein 43) and ITGB3 (integrin beta 3) as new candidates for involvement in the antidepressant effect. CHL1 and ITGB3 code for adhesion molecules, while GAP43 codes for a neuron-specific cytosolic protein expressed in neuronal growth cones; all the three gene products are involved in synaptic plasticity. Sixteen polymorphisms in these genes were genotyped in two samples (n=369 and 90) with diagnosis of major depressive episode who were treated with antidepressants in a naturalistic setting. Phenotypes were response, remission and treatment-resistant depression. Logistic regression including appropriate covariates was performed. Genes associated with outcomes were investigated in the Sequenced Treatment Alternatives to Relieve Depression (STAR∗D) genome-wide study (n=1861) as both individual genes and through a pathway analysis (Reactome and String databases). Gene-based analysis suggested CHL1 rs4003413, GAP43 rs283393 and rs9860828, ITGB3 rs3809865 as the top candidates due to their replication across the largest original sample and the STAR∗D cohort. GAP43 molecular pathway was associated with both response and remission in the STAR∗D, with ELAVL4 representing the gene with the highest percentage of single nucleotide polymorphisms (SNPs) associated with outcomes. Other promising genes emerging from the pathway analysis were ITGB1 and NRP1. The present study was the first to analyze cell adhesion genes and their molecular pathways in antidepressant response. Genes and biomarkers involved in neuronal adhesion should be considered by further studies aimed to identify predictors of antidepressant response. more...
- Published
- 2015
20. La pianificazione botanica del parco archeologico di Velia
- Author
-
Caneva G, Esposito A, LA VALVA, VINCENZO, DE NATALE, ANTONINO, MARTINES R. E TOCCO G., Caneva, G, LA VALVA, V, Esposito, Assunta, DE NATALE, A., Martines R Tocco G, LA VALVA, Vincenzo, Esposito, A, and DE NATALE, Antonino more...
- Subjects
Flora ,vegetation ,Campania - Published
- 2008
21. Neuroplasticity and second messenger pathways in antidepressant efficacy: pharmacogenetic results from a prospective trial investigating treatment resistance
- Author
-
Stuart Montgomery, Chiara Fabbri, Joseph Zohar, Daniel Souery, Siegfried Kasper, Rosalba Martines, Diego Albani, Raffaella Calati, Marco Calabrò, Concetta Crisafulli, Alzbeta Juven-Wetzler, Alessandro Serretti, Julien Mendlewicz, Gianluigi Forloni, Fabbri, Chiara, Crisafulli, Concetta, Calati, Raffaella, Albani, Diego, Forloni, Gianluigi, Calabrò, Marco, Martines, Rosalba, Kasper, Siegfried, Zohar, Joseph, Juven-Wetzler, Alzbeta, Souery, Daniel, Montgomery, Stuart, Mendlewicz, Julien, Serretti, Alessandro, Fabbri, C, Crisafulli, C, Calati, R, Albani, D, Forloni, G, Calabro, M, Martines, R, Kasper, S, Zohar, J, Juven-Wetzler, A, Souery, D, Montgomery, S, Mendlewicz, J, and Serretti, A more...
- Subjects
Male ,Antidepressant ,Gene ,Neuroplasticity ,Pharmacogenetics ,Polymorphism ,Treatment-resistant depression ,Medicine (all) ,Venlafaxine ,Pharmacology ,Bioinformatics ,Second Messenger Systems ,Depressive Disorder, Treatment-Resistant ,0302 clinical medicine ,Databases, Genetic ,Pharmacology (medical) ,Prospective Studies ,Neuronal Plasticity ,biology ,Pharmacogenetic ,Remission Induction ,Venlafaxine Hydrochloride ,General Medicine ,Middle Aged ,Psychiatry and Mental health ,Treatment Outcome ,Montgomery–Åsberg Depression Rating Scale ,Antidepressive Agents, Second-Generation ,Major depressive disorder ,Female ,CREB1 ,Psychology ,medicine.drug ,Adult ,Citalopram ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,medicine ,Humans ,Escitalopram ,Biological Psychiatry ,Depressive Disorder, Major ,medicine.disease ,030227 psychiatry ,biology.protein ,030217 neurology & neurosurgery - Abstract
Genes belonging to neuroplasticity, monoamine, circadian rhythm, and transcription factor pathways were investigated as modulators of antidepressant efficacy. The present study aimed (1) to replicate previous findings in an independent sample with treatment-resistant depression (TRD), and (2) to perform a pathway analysis to investigate the possible molecular mechanisms involved. 220 patients with major depressive disorder who were non-responders to a previous antidepressant were treated with venlafaxine for 4â6Â weeks and in case of non-response with escitalopram for 4â6Â weeks. Symptoms were assessed using the Montgomery Asberg Depression Rating Scale. The phenotypes were response and remission to venlafaxine, non-response (TRDA) and non-remission (TRDB) to neither venlafaxine nor escitalopram. 50 tag SNPs in 14 genes belonging to the pathways of interest were tested for association with phenotypes. Molecular pathways (KEGG database) that included one or more of the genes associated with the phenotypes were investigated also in the STAR*D sample. The associations between ZNF804A rs7603001 and response, CREB1 rs2254137 and remission were replicated, as well as CHL1 rs2133402 and lower risk of TRD. Other CHL1 SNPs were potential predictors of TRD (rs1516340, rs2272522, rs1516338, rs2133402). The MAPK1 rs6928 SNP was consistently associated with all the phenotypes. The protein processing in endoplasmic reticulum pathway (hsa04141) was the best pathway that may explain the mechanisms of MAPK1 involvement in antidepressant response. Signals in genes previously associated with antidepressant efficacy were confirmed for CREB1, ZNF804A and CHL1. These genes play pivotal roles in synaptic plasticity, neural activity and connectivity. more...
- Published
- 2017
- Full Text
- View/download PDF
22. Relapsed Mpox Keratitis, St. Louis, Missouri, USA.
- Author
-
Pi C, Adah O, Cholli PA, Martines R, Abate G, Hainaut L, Seipel E, Isbell TS, Frankel R, and Poowanawittayakom N
- Subjects
- Humans, Middle Aged, Male, Missouri, HIV Infections complications, HIV Infections drug therapy, Syphilis diagnosis, Syphilis drug therapy, Mpox (monkeypox), Keratitis diagnosis, Keratitis microbiology, Keratitis drug therapy, Recurrence
- Abstract
We describe a case of a 46-year-old man in Missouri, USA, with newly diagnosed advanced HIV and PCR-confirmed mpox keratitis. The keratitis initially resolved after intravenous tecovirimat and penicillin for suspected ocular syphilis coinfection. Despite a confirmatory negative PCR, he developed relapsed, ipsilateral PCR-positive keratitis and severe ocular mpox requiring corneal transplant. more...
- Published
- 2024
- Full Text
- View/download PDF
23. MMR Vaccine-Associated Disseminated Measles in an Immunocompromised Adolescent.
- Author
-
Stokke JL, Szymanski LJ, Bankamp B, Pratt F, Martines R, Dien-Bard J, and Mohandas S
- Subjects
- Adolescent, Fatal Outcome, Female, Humans, Lung diagnostic imaging, Lung pathology, Lung virology, Measles pathology, Measles virus isolation & purification, Pituitary Gland virology, Hodgkin Disease complications, Immunocompromised Host, Measles etiology, Measles-Mumps-Rubella Vaccine adverse effects
- Published
- 2021
- Full Text
- View/download PDF
24. Discontinuation of bisphosphonates in seniors: a systematic review on health outcomes.
- Author
-
Lamarre M, Marcotte M, Laurin D, Furrer D, Vedel I, Tourigny A, Giguère A, Carmichael PH, Martines R, Morais J, and Kröger E
- Subjects
- Aged, Bone Density, Diphosphonates adverse effects, Humans, Outcome Assessment, Health Care, Bone Density Conservation Agents adverse effects, Osteoporosis drug therapy, Osteoporotic Fractures epidemiology, Osteoporotic Fractures prevention & control
- Abstract
Purpose: Bisphosphonates are used to treat osteoporosis. Despite their benefits on bone mineral density (BMD) and fractures, they have shown adverse effects, sometimes severe, during chronic use. Taken for several years, they achieve long-term bone retention, making deprescribing feasible. This review aimed to synthesize evidence on the success and health outcomes of deprescribing of bisphosphonates in seniors, aged over 60 years., Methods: The review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, including articles in English, French, or German published before July 2020. Eligible studies included seniors having discontinued bisphosphonates and reported on health outcomes; some allowed meta-analyses on fracture risk., Results: The review included 9 RCTs and 9 cohort studies of moderate quality. Bisphosphonates were discontinued after 2 to 7 years of use, and BMD or fractures were assessed during follow-up of 0.5 to 5 years. A significant reduction in BMD after discontinuation was observed in 9 of 10 studies. Results on fracture risk after discontinuation are mitigated: 6 RCT extensions showed no increase in the risk of any osteoporotic fractures after discontinuation. Meta-analyses including 4 RCTs showed an increased odds ratio of vertebral fractures of 2.04 (95% CI, 1.39-2.99) among discontinuers. Results from 2 large cohort studies showed no increased risks of any osteoporotic or vertebral fractures, while 2 studies found increased fracture risks., Conclusion: Bisphosphonates have successfully been discontinued low overall fracture risk after at least 3 years of use, but a risk for decreased BMD and increased vertebral fractures remained., (© 2021. International Osteoporosis Foundation and National Osteoporosis Foundation.) more...
- Published
- 2021
- Full Text
- View/download PDF
25. Spectrum of Changes Seen With Placental Intravascular Organisms.
- Author
-
Schubert PT, Mason D, Martines R, Deleon-Carnes M, Zaki SR, and Roberts DJ
- Subjects
- Acute Disease, Adolescent, Adult, Chorioamnionitis microbiology, Chorionic Villi microbiology, Chorionic Villi pathology, Escherichia coli isolation & purification, Escherichia coli Infections microbiology, Female, Fetal Death, Fetus pathology, Gestational Age, Humans, Maternal Death, Placenta microbiology, Placenta pathology, Placenta Diseases microbiology, Pregnancy, Sepsis microbiology, Streptococcal Infections microbiology, Streptococcus agalactiae isolation & purification, Young Adult, Chorioamnionitis pathology, Escherichia coli Infections pathology, Placenta Diseases pathology, Sepsis pathology, Streptococcal Infections pathology
- Abstract
Fetal bacterial infections are a common cause of fetal/neonatal morbidity and mortality. The pathologic correlates of congenital bacterial infection include acute chorioamnionitis, acute villitis, and acute intervillositis. The strength of the association of congenital bacterial infection differs among these pathologies. Acute chorioamnionitis results usually from an ascending infection, and damage to the fetus is thought to be cytokine driven rather than damage secondary to bacteremia. Acute villitis is strongly associated with fetal sepsis due to congenital infections. A much less common variant on acute villitis pattern has been described with additional presence of bacteria in the fetal capillaries of the chorionic villi. We describe the spectrum of bacteria that would induce this unique pattern. The histological archives were searched from 2 institutions for cases with intravascular bacteria present in the villous capillaries of the placenta. Thirteen cases were identified, of which 11 cases had acute chorioamnionitis and all cases showed an acute villitis. Eight cases had Escherichia coli identified and 3 cases had Group B Streptococcus. All cases were associated with fetal death. In 9 cases, the mother showed signs of a significant infection including 1 maternal death. We conclude that finding intravascular bacteria is a serious complication of congenital infection with serious fetal and maternal sequela. more...
- Published
- 2019
- Full Text
- View/download PDF
26. Neuroplasticity and second messenger pathways in antidepressant efficacy: pharmacogenetic results from a prospective trial investigating treatment resistance.
- Author
-
Fabbri C, Crisafulli C, Calati R, Albani D, Forloni G, Calabrò M, Martines R, Kasper S, Zohar J, Juven-Wetzler A, Souery D, Montgomery S, Mendlewicz J, and Serretti A
- Subjects
- Adult, Antidepressive Agents, Second-Generation administration & dosage, Citalopram administration & dosage, Databases, Genetic, Depressive Disorder, Major genetics, Depressive Disorder, Treatment-Resistant genetics, Female, Humans, Male, Middle Aged, Neuronal Plasticity genetics, Polymorphism, Single Nucleotide, Prospective Studies, Remission Induction, Second Messenger Systems genetics, Treatment Outcome, Venlafaxine Hydrochloride administration & dosage, Antidepressive Agents, Second-Generation pharmacology, Citalopram pharmacology, Depressive Disorder, Major drug therapy, Depressive Disorder, Treatment-Resistant drug therapy, Neuronal Plasticity drug effects, Pharmacogenetics methods, Second Messenger Systems drug effects, Venlafaxine Hydrochloride pharmacology
- Abstract
Genes belonging to neuroplasticity, monoamine, circadian rhythm, and transcription factor pathways were investigated as modulators of antidepressant efficacy. The present study aimed (1) to replicate previous findings in an independent sample with treatment-resistant depression (TRD), and (2) to perform a pathway analysis to investigate the possible molecular mechanisms involved. 220 patients with major depressive disorder who were non-responders to a previous antidepressant were treated with venlafaxine for 4-6 weeks and in case of non-response with escitalopram for 4-6 weeks. Symptoms were assessed using the Montgomery Asberg Depression Rating Scale. The phenotypes were response and remission to venlafaxine, non-response (TRDA) and non-remission (TRDB) to neither venlafaxine nor escitalopram. 50 tag SNPs in 14 genes belonging to the pathways of interest were tested for association with phenotypes. Molecular pathways (KEGG database) that included one or more of the genes associated with the phenotypes were investigated also in the STAR*D sample. The associations between ZNF804A rs7603001 and response, CREB1 rs2254137 and remission were replicated, as well as CHL1 rs2133402 and lower risk of TRD. Other CHL1 SNPs were potential predictors of TRD (rs1516340, rs2272522, rs1516338, rs2133402). The MAPK1 rs6928 SNP was consistently associated with all the phenotypes. The protein processing in endoplasmic reticulum pathway (hsa04141) was the best pathway that may explain the mechanisms of MAPK1 involvement in antidepressant response. Signals in genes previously associated with antidepressant efficacy were confirmed for CREB1, ZNF804A and CHL1. These genes play pivotal roles in synaptic plasticity, neural activity and connectivity. more...
- Published
- 2017
- Full Text
- View/download PDF
27. The role of single-nucleotide variants of the energy metabolism-linked genes SIRT3, PPARGC1A and APOE in amyotrophic lateral sclerosis risk.
- Author
-
Albani D, Pupillo E, Bianchi E, Chierchia A, Martines R, Forloni G, and Beghi E
- Subjects
- Adult, Aged, Amyotrophic Lateral Sclerosis epidemiology, Amyotrophic Lateral Sclerosis pathology, Case-Control Studies, Exercise, Female, Humans, Life Style, Male, Middle Aged, Amyotrophic Lateral Sclerosis genetics, Apolipoproteins E genetics, Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha genetics, Polymorphism, Single Nucleotide, Sirtuin 3 genetics
- Abstract
Amyotrophic lateral sclerosis (ALS) is a multifactorial disease, possibly with contributions from genetics and lifestyle. We examined variants in genes relevant to energy metabolism and physical activity in a case-control association study, with the aim of assessing genetics and physical activity as contributors to ALS risk. A well-characterized sample of Italian ALS patients (101) and controls (101) from the EURALS Consortium underwent a questionnaire interview on demographic, physical and other lifestyle habits, and venipuncture for DNA extraction. The genes selected were sirtuin 3 (SIRT3), peroxisome proliferator-activated receptor-γ coactivator-1α (PPARGC1A) and apolipoprotein E (APOE). Genetic studies suggested, for the first time, a protective role of the SIRT3 single-nucleotide polymorphism rs4980329 in ALS risk, and a contribution of the APOE-ε2 allele, which was more frequent in ALS patients than in controls. A joint analysis coupling genetic data and sporting activity revealed opposite roles of APOE-ε2 and SIRT3 rs3825075, the former being more frequent in physically active ALS patients and the latter more frequent in physically inactive patients. These findings suggest a contribution to ALS risk of genetic and environmental factors involved in energy metabolism, and stress the importance of a multifactorial analysis for evaluating this risk. more...
- Published
- 2017
- Full Text
- View/download PDF
28. Immunolocalization and Distribution of Rubella Antigen in Fatal Congenital Rubella Syndrome.
- Author
-
Lazar M, Perelygina L, Martines R, Greer P, Paddock CD, Peltecu G, Lupulescu E, Icenogle J, and Zaki SR
- Subjects
- Autopsy, Biopsy, Cell Line, Central Nervous System immunology, Central Nervous System metabolism, Central Nervous System pathology, Fatal Outcome, Female, Humans, Infant, Newborn, Infectious Disease Transmission, Vertical, Lung immunology, Lung pathology, Lung virology, Male, Myocardium immunology, Myocardium pathology, Pregnancy, Rubella Syndrome, Congenital diagnosis, Rubella Syndrome, Congenital transmission, Rubella virus classification, Rubella virus genetics, Virus Replication, Antigens, Viral immunology, Rubella Syndrome, Congenital immunology, Rubella Syndrome, Congenital virology, Rubella virus immunology
- Abstract
Background: An estimated 100,000 cases of congenital rubella syndrome (CRS) occur worldwide each year. The reported mortality rate for infants with CRS is up to 33%. The cellular mechanisms responsible for the multiple congenital defects in CRS are presently unknown. Here we identify cell types positive for rubella virus (RV) in CRS infants., Methods: Cells and organs involved in RV replication were identified in paraffin-embedded autopsy tissues from three fatal case-patients by histopathologic examination and immunohistochemical (IHC) staining using a rabbit polyclonal RV antibody. Normal rabbit antisera and RV antisera preabsorbed with highly purified RV served as negative controls., Results: RV antigen was found in interstitial fibroblasts in the heart, adventitial fibroblasts of large blood vessels, alveolar macrophages, progenitor cells of the outer granular layer of the brain, and in capillary endothelium and basal plate in the placenta. The antibody specificity was verified by IHC staining of multiple tissue sections from other infectious disease cases. RV infection of each cell type is consistent with abnormalities which have been identified in patients with CRS, in the heart, large blood vessels, and brain. Antigen distribution was consistent with inflammatory response to vascular injury and systemic spread of RV., Conclusions: The identification of RV positive cell types in CRS is important to better understand the pathology and pathogenesis of CRS. more...
- Published
- 2015
- Full Text
- View/download PDF
29. Genetics of psychotropic medication induced side effects in two independent samples of bipolar patients.
- Author
-
Fabbri C, Souery D, Calati R, Crisafulli C, Chierchia A, Albani D, Forloni G, Chiesa A, Martines R, Sentissi O, Mendlewicz J, De Girolamo G, and Serretti A
- Subjects
- Adult, Aged, Brain-Derived Neurotrophic Factor genetics, Catechol O-Methyltransferase genetics, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Glycogen Synthase Kinase 3 genetics, Glycogen Synthase Kinase 3 beta, Humans, Male, Middle Aged, Receptor, Serotonin, 5-HT2A, Signal Transduction drug effects, Signal Transduction genetics, Sp4 Transcription Factor genetics, Bipolar Disorder drug therapy, Bipolar Disorder genetics, Drug-Related Side Effects and Adverse Reactions genetics, Nuclear Receptor Subfamily 1, Group F, Member 1 genetics, Polymorphism, Single Nucleotide genetics, Psychotropic Drugs adverse effects
- Abstract
The treatment of bipolar disorder (BD) usually requires combination therapies, with the critical issue of the emergence of adverse drug reactions (ADRs) and the possibility of low treatment adherence. Genetic polymorphisms are hypothesized to modulate the pharmacodynamics of psychotropic drugs, representing potential biological markers of ADRs. This study investigated genes involved in the regulation of neuroplasticity (BDNF, ST8SIA2), second messenger cascades (GSK3B, MAPK1, and CREB1), circadian rhythms (RORA), transcription (SP4, ZNF804A), and monoaminergic system (HTR2A and COMT) in the risk of neurological, psychic, autonomic, and other ADRs. Two independent samples of BD patients naturalistically treated were included (COPE-BD n = 147; STEP-BD n = 659). In the COPE-BD 34 SNPs were genotyped, while in the STEP-BD polymorphisms in the selected genes were extracted from the genome-wide dataset. Each ADRs group was categorized as absent-mild or moderate-severe and logistic regression with appropriate covariates was applied to identify possible risk genotypes/alleles. 58.5 and 93.5 % of patients were treated with mood stabilizers, 44.2 and 50.7 % were treated with antipsychotics, and 69.4 and 46.1 % were treated with antidepressants in the COPE-BD and STEP-BD, respectively. Our findings suggested that ST8SIA2 may be associated with psychic ADRs, as shown in the COPE-BD (rs4777989 p = 0.0017) and STEP-BD (rs56027313, rs13379489 and rs10852173). A cluster of RORA SNPs around rs2083074 showed an effect on psychic ADRs in the STEP-BD. Trends supporting the association between HTR2A and autonomic ADRs were found in both samples. Confirmations are needed particularly for ST8SIA2 and RORA since the few available data regarding their role in relation to psychotropic ADRs. more...
- Published
- 2015
- Full Text
- View/download PDF
30. Phylogeography of Rickettsia rickettsii genotypes associated with fatal Rocky Mountain spotted fever.
- Author
-
Paddock CD, Denison AM, Lash RR, Liu L, Bollweg BC, Dahlgren FS, Kanamura CT, Angerami RN, Pereira dos Santos FC, Brasil Martines R, and Karpathy SE
- Subjects
- Adolescent, Adult, Aged, Americas epidemiology, Animals, Child, Child, Preschool, DNA, Bacterial chemistry, DNA, Bacterial genetics, DNA, Intergenic, Female, Genotype, Humans, Infant, Male, Middle Aged, Molecular Typing, Phylogeography, Rickettsia rickettsii classification, Rocky Mountain Spotted Fever epidemiology, Rocky Mountain Spotted Fever mortality, Rocky Mountain Spotted Fever pathology, Sequence Analysis, DNA, Young Adult, Rickettsia rickettsii genetics, Rocky Mountain Spotted Fever microbiology
- Abstract
Rocky Mountain spotted fever (RMSF), a tick-borne zoonosis caused by Rickettsia rickettsii, is among the deadliest of all infectious diseases. To identify the distribution of various genotypes of R. rickettsii associated with fatal RMSF, we applied molecular typing methods to samples of DNA extracted from formalin-fixed, paraffin-embedded tissue specimens obtained at autopsy from 103 case-patients from seven countries who died of RMSF. Complete sequences of one or more intergenic regions were amplified from tissues of 30 (29%) case-patients and revealed a distribution of genotypes consisting of four distinct clades, including the Hlp clade, regarded previously as a non-pathogenic strain of R. rickettsii. Distinct phylogeographic patterns were identified when composite case-patient and reference strain data were mapped to the state and country of origin. The phylogeography of R. rickettsii is likely determined by ecological and environmental factors that exist independently of the distribution of a particular tick vector., (© The American Society of Tropical Medicine and Hygiene.) more...
- Published
- 2014
- Full Text
- View/download PDF
31. Computer-designed selective laser sintering surgical guide and immediate loading dental implants with definitive prosthesis in edentulous patient: A preliminary method.
- Author
-
Di Giacomo G, Silva J, Martines R, and Ajzen S
- Abstract
Objective: The aim of this study was to analyze a preliminary method of immediately loading dental implants and a definitive prosthesis based on the computer-aided design/computer-aided manufacturing systems, after 2 years of clinical follow-up., Materials and Methods: The study comprised one patient in good general health with edentulous maxilla. Cone beam computer tomography (CBCT) was performed using a radiographic template. The surgical plan was made using the digital imaging and communications in medicine protocol with ImplantViewer (version 1.9, Anne Solutions, Sao Paulo, SP, Brazil), the surgical planning software. These data were used to produce a selective laser sintering surgical template. A maxilla prototype was used to guide the prosthesis technician in producing the prosthesis. Eight dental implants and a definitive prosthesis were installed on the same day. A post-operative CBCT image was fused with the image of the surgical planning to calculate the deviation between the planned and the placed implants positions. Patient was followed for 2 years., Results: On average, the match between the planned and placed angular deviation was within 6.0 ± 3.4° and the difference in coronal deviation was 0.7 ± 0.3 mm. At the end of the follow-up, neither the implant nor the prosthesis was lost., Conclusions: Considering the limited samples number, it was possible to install the dental implants and a definitive prosthesis on the same day with success. more...
- Published
- 2014
- Full Text
- View/download PDF
32. [Dehiberations over the semantics of mass communication media].
- Author
-
Martines R
- Subjects
- Adolescent, Adult, Affective Symptoms, Aggression, Consumer Behavior, Crime, Erotica, Esthetics, Fantasy, Humans, Italy, Learning, Mental Disorders, Motion Pictures, Personality Development, Public Opinion, Radio, Television, Communication
- Abstract
The radio, cinema and T.V. have developed their own idiolects and aesthetic standards. These in turn have influenced social relationships and education. Their effect is the reduction of society to a common mass, in which no attentuon is paid to individual motive forces. more...
- Published
- 1975
33. Segmental neurofibromatosis.
- Author
-
Roth RR, Martines R, and James WD
- Subjects
- Adult, Female, Humans, Male, Middle Aged, Neurofibroma classification, Neurofibromatosis 1 classification, Neurofibroma pathology, Neurofibromatosis 1 pathology
- Abstract
Three cases of segmental neurofibromatosis (NF) and one case of bilateral segmental NF are described. Previous cases described as segmental NF are reviewed and evaluated in light of Riccardi's rigid definition of segmental NF. The previously reported cases are then placed in four subgroups. Segmental NF may evolve into a generalized form over time. Also, this disorder may occur in a heritable manner, Genetic counseling of affected individuals must include these facts. more...
- Published
- 1987
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.