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24 results on '"Almaguer-Gotay, Dennis"'

4. Erythropoietin in Spinocerebellar Ataxia Type 2: Feasibility and Proof‐of‐Principle Issues from a Randomized Controlled Study

Author

Rodriguez‐Labrada, Roberto, primary, Ortega‐Sanchez, Ricardo, additional, Hernández Casaña, Patricia, additional, Santos Morales, Orestes, additional, Padrón‐Estupiñan, Maria del Carmen, additional, Batista‐Nuñez, Maricela, additional, Jiménez Rodríguez, Daise, additional, Canales‐Ochoa, Nalia, additional, Peña Acosta, Arnoy, additional, Medrano Montero, Jacqueline, additional, Labrada Aguilera, Pedro Enrique, additional, Estupiñán Rodriguez, Annelie, additional, Vazquez‐Mojena, Yaimee, additional, Almaguer Gotay, Dennis, additional, Aymed‐García, Judey, additional, García‐García, Idrian, additional, Torres Vega, Reydenis, additional, Viada González, Carmen, additional, Valenzuela Silva, Carmen M., additional, Silva Ricardo, Yanelis, additional, Columbié Ximelis, Jorge, additional, Tribin Rivero, Kenia, additional, Valle Cabrera, Roselin, additional, García‐Rodriguez, Julio Cesar, additional, Crombet Ramos, Tania, additional, Amaro‐González, Daniel, additional, Rodriguez‐Obaya, Teresita, additional, and Velázquez‐Pérez, Luis, additional

Published
2022
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5. Redox Imbalance Associates with Clinical Worsening in Spinocerebellar Ataxia Type 2

Author

Almaguer-Gotay Dennis, Peña-Acosta Arnoy, Luis E. Almaguer-Mederos, Gonzalez-Zaldivar Yanetza, Rodríguez-Aguilera Raúl, Vázquez-Mojena Yaimeé, Estupinan-Dominguez Annelie, Torres-Vega Reydenis, Rodríguez-Labrada Roberto, Velázquez-Pérez Luis, and Cuello-Almarales Dany

Subjects
Adult, Male, Aging, medicine.medical_specialty, Heterozygote, Antioxidant, Article Subject, medicine.medical_treatment, Biochemistry, Redox, Superoxide dismutase, chemistry.chemical_compound, Internal medicine, medicine, Humans, Spinocerebellar Ataxias, Aged, chemistry.chemical_classification, biology, QH573-671, Cell Biology, General Medicine, Glutathione, Middle Aged, medicine.disease, Pathophysiology, Endocrinology, chemistry, Catalase, Case-Control Studies, Mutation, Thiol, Spinocerebellar ataxia, biology.protein, Female, Trinucleotide Repeat Expansion, Cytology, Oxidation-Reduction, Biomarkers, Research Article
Abstract

Background. Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease presenting with redox imbalance. However, the nature and implications of redox imbalance in SCA2 physiopathology have not been fully understood. Objective. The objective of this study is to assess the redox imbalance and its association with disease severity in SCA2 mutation carriers. Methods. A case-control study was conducted involving molecularly confirmed SCA2 patients, presymptomatic individuals, and healthy controls. Several antioxidant parameters were assessed, including serum thiol concentration and the superoxide dismutase, catalase, and glutathione S-transferase enzymatic activities. Also, several prooxidant parameters were evaluated, including thiobarbituric acid-reactive species and protein carbonyl concentrations. Damage, protective, and OXY scores were computed. Clinical correlates were established. Results. Significant differences were found between comparison groups for redox markers, including protein carbonyl concentration ( F = 3.30 ; p = 0.041 ), glutathione S-transferase activity ( F = 4.88 ; p = 0.009 ), and damage ( F = 3.20 ; p = 0.045 ), protection ( F = 12.75 ; p < 0.001 ), and OXY ( F = 7.29 ; p = 0.001 ) scores. Protein carbonyl concentration was positively correlated with CAG repeat length ( r = 0.27 ; p = 0.022 ), while both protein carbonyl concentration ( r = − 0.27 ; p = 0.018 ) and OXY score ( r = − 0.25 ; p = 0.013 ) were inversely correlated to the disease duration. Increasing levels of antioxidants and decreasing levels of prooxidant parameters were associated with clinical worsening. Conclusions. There is a disruption of redox balance in SCA2 mutation carriers which depends on the disease stage. Besides, redox changes associate with markers of disease severity, suggesting a link between disruption of redox balance and SCA2 physiopathology.

Published
2021

7. Weight loss is correlated with disease severity in Spinocerebellar ataxia type 2: a cross-sectional cohort study.

Author

Rodriguez-Graña, Tania, Rodríguez-Labrada, Roberto, Santana-Porbén, Sergio, Reynaldo-Cejas, Lorenzo, Medrano-Montero, Jacqueline, Canales-Ochoa, Nalia, Silva-Ricardo, Yanelis, Torres-Vega, Reidenis, González-Zaldivar, Yanetza, Almaguer-Gotay, Dennis, Auburger, Georg, and Velázquez-Pérez, Luis

Subjects
SPINOCEREBELLAR ataxia, WEIGHT loss, CALF muscles, NUTRITIONAL assessment, MUSCLE mass, BODY mass index
Abstract

Body weight changes occur frequently during advanced stages of Spinocerebellar Ataxia type 2 (SCA2), nevertheless limited information exists on biomarkers of nutritional status of these patients. To assess changes in surrogate nutritional markers of SCA2 patients; to explore their associations with expanded CAG repeats and disease severity. One-hundred-thirteen SCA2 patients and 50 healthy controls underwent a comprehensive anthropometrical and biochemical assessment protocol of the nutritional status. Neurological and genotype assessments were also performed. A decrease in weight, body mass index (BMI), cutaneous skinfold thickness, fat mass, arm muscle circumference, calf circumference and skeletal muscle mass was observed in SCA2 patients compared to the controls. The total/HDL cholesterol ratio was significantly reduced in patients. BMI was correlated with the age at onset. Overall, anthropometric measures were correlated with clinical markers of disease severity and were more evident in severe and moderate cases. Using anthropometric measures in the assessment of the nutritional status of SCA2 patients might provide hints about pathophysiological mechanisms that underlie metabolic abnormalities in SCA2. Anthropometric are close related with disease severity and progression, and trigger preventive therapies aimed to ameliorate weight loss and wasting in these patients. [ABSTRACT FROM AUTHOR]

Published
2022
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8. Weight loss is correlated with disease severity in Spinocerebellar ataxia type 2: a cross-sectional cohort study

Author

Rodriguez-Graña, Tania, primary, Rodríguez-Labrada, Roberto, additional, Santana-Porbén, Sergio, additional, Reynaldo-Cejas, Lorenzo, additional, Medrano-Montero, Jacqueline, additional, Canales-Ochoa, Nalia, additional, Silva-Ricardo, Yanelis, additional, Torres-Vega, Reidenis, additional, González-Zaldivar, Yanetza, additional, Almaguer-Gotay, Dennis, additional, Auburger, Georg, additional, and Velázquez-Pérez, Luis, additional

Published
2021
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10. Aproximación a la ingesta nutricional en pacientes con Ataxia Espinocerebelosa tipo 2.

Author

Saínz, Yasnay Jorge, Almaguer Gotay, Dennis, Rodríguez Estupiñán, Annelié, and Almaguer Mederos, Luis E.

Abstract

Copyright of Revista Habanera de Ciencias Médicas is the property of Universidad de Ciencias Medicas de La Habana and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2021

11. Potencial uso terapéutico del ARN de interferencia contra la COVID-19.

Author

Cuello Almarales, Dany A., Almaguer Mederos, Luis E., and Almaguer Gotay, Dennis

Abstract

Copyright of Revista Habanera de Ciencias Médicas is the property of Universidad de Ciencias Medicas de La Habana and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2020

12. Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24-week, rater-blinded, randomized, controlled trial

Author

Rodríguez-Díaz, Julio Cesar, primary, Velázquez-Pérez, Luis, additional, Rodríguez Labrada, Roberto, additional, Aguilera Rodríguez, Raúl, additional, Laffita Pérez, Dalina, additional, Canales Ochoa, Nalia, additional, Medrano Montero, Jacqueline, additional, Estupiñán Rodríguez, Annelié, additional, Osorio Borjas, Marcos, additional, Góngora Marrero, Mariela, additional, Reynaldo Cejas, Lorenzo, additional, González Zaldivar, Yanetza, additional, and Almaguer Gotay, Dennis, additional

Published
2018
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14. Spinocerebellar Ataxia Type 2 Is Associated with the Extracellular Loss of Superoxide Dismutase but Not Catalase Activity

Author

Almaguer-Gotay, Dennis, primary, Almaguer-Mederos, Luis E., additional, Aguilera-Rodríguez, Raul, additional, Rodríguez-Labrada, Roberto, additional, Cuello-Almarales, Dany, additional, Estupiñán-Domínguez, Annelié, additional, Velázquez-Pérez, Luis C., additional, González-Zaldívar, Yanetza, additional, and Vázquez-Mojena, Yaimé, additional

Published
2017
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15. Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2

Author

Cuello-Almarales, Dany A., primary, Almaguer-Mederos, Luis E., additional, Vázquez-Mojena, Yaimé, additional, Almaguer-Gotay, Dennis, additional, Zayas-Feria, Pedro, additional, Laffita-Mesa, José M., additional, González-Zaldívar, Yanetza, additional, Aguilera-Rodríguez, Raúl, additional, Rodríguez-Estupiñán, Annelié, additional, and Velázquez-Pérez, Luis, additional

Published
2017
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16. Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2

Author

Almaguer-Mederos, Luis E., primary, Almaguer-Gotay, Dennis, additional, Aguilera-Rodríguez, Raúl, additional, González-Zaldívar, Yanetza, additional, Cuello-Almarales, Dany, additional, Laffita-Mesa, José, additional, Vázquez-Mojena, Yaimé, additional, Zayas-Feria, Pedro, additional, Rodríguez-Labrada, Roberto, additional, Velázquez-Pérez, Luis, additional, and MacLeod, Patrick, additional

Published
2017
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17. Relevancia de componentes del eje hipotálamo-hipófisis-gonadal en la fisiopatología de proteinopatías del sistema nervioso.

Author

Hechavarría Barzaga, Kenia, Aguilera Rodríguez, Raúl, Almaguer Gotay, Dennis, Álvarez Sosa, Amarilis, and Almaguer Mederos, Luis Enrique

Abstract

Copyright of Revista Habanera de Ciencias Médicas is the property of Universidad de Ciencias Medicas de La Habana and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2019

18. Genetic features of Huntington disease in Cuban population: Implications for phenotype, epidemiology and predictive testing

Author

Vázquez-Mojena, Yaimeé, primary, Laguna-Salvia, Leonides, additional, Laffita-Mesa, José M., additional, González-Zaldívar, Yanetza, additional, Almaguer-Mederos, Luis E., additional, Rodríguez-Labrada, Roberto, additional, Almaguer-Gotay, Dennis, additional, Zayas-Feria, Pedro, additional, and Velázquez-Pérez, Luis, additional

Published
2013
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19. Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications

Author

Laffita-Mesa, José Miguel, primary, Bauer, Peter O., additional, Kourí, Vivian, additional, Peña Serrano, Leodani, additional, Roskams, Jane, additional, Almaguer Gotay, Dennis, additional, Montes Brown, Julio Cesar, additional, Martínez Rodríguez, Pedro Ariel, additional, González-Zaldívar, Yanetza, additional, Almaguer Mederos, Luís, additional, Cuello-Almarales, Dany, additional, and Aguiar Santiago, Jorge, additional

Published
2011
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20. Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles

Author

Laffita-Mesa, José Miguel, primary, Velázquez-Pérez, Luis C, additional, Santos Falcón, Nieves, additional, Cruz-Mariño, Tania, additional, González Zaldívar, Yanetza, additional, Vázquez Mojena, Yaimee, additional, Almaguer-Gotay, Dennis, additional, Almaguer Mederos, Luis Enrique, additional, and Rodríguez Labrada, Roberto, additional

Published
2011
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21. Caracterización integral de la ataxia espinocerebelosa 2 en Cuba y su aplicación en proyectos de intervención

Author

Velázquez Pérez, Luis, primary, Rodríguez Labrada, Roberto, additional, Sánchez Cruz, Gilberto, additional, Laffita Mesa, José M, additional, Almaguer Mederos, Luis, additional, Aguilera Rodríguez, Raúl, additional, Medrano Montero, Jacqueline, additional, Almaguer Gotay, Dennis, additional, Cruz Mariño, Tania, additional, González Zaldívar, Yanetza, additional, Coello Almarales, Dany, additional, Canales Ochoa, Nalia, additional, Vázquez Mojena, Yaimeé, additional, and Rodríguez Díaz, Julio Cesar, additional

Published
2011
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22. Uncommon features in Cuban families affected with Friedreich ataxia

Author

Cruz-Mariño, Tania, primary, González-Zaldivar, Yanetza, additional, Laffita-Mesa, Jose Miguel, additional, Almaguer-Mederos, Luis, additional, Aguilera-Rodríguez, Raul, additional, Almaguer-Gotay, Dennis, additional, Rodríguez-Labrada, Roberto, additional, Canales-Ochoa, Nalia, additional, MacLeod, Patrick, additional, and Velázquez-Pérez, Luis, additional

Published
2010
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23. Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin

Author

Velázquez Pérez, Luis, primary, Cruz, Gilberto Sánchez, additional, Santos Falcón, Nieves, additional, Enrique Almaguer Mederos, Luis, additional, Escalona Batallan, Karel, additional, Rodríguez Labrada, Roberto, additional, Paneque Herrera, Milena, additional, Laffita Mesa, José Miguel, additional, Rodríguez Díaz, Julio C., additional, Rodríguez, Raúl Aguilera, additional, González Zaldivar, Yanetza, additional, Coello Almarales, Dany, additional, Almaguer Gotay, Dennis, additional, and Jorge Cedeño, Humberto, additional

Published
2009
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24. Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.

Author

Laffita-Mesa, José Miguel, Velázquez-Pérez, Luis C, Santos Falcón, Nieves, Cruz-Mariño, Tania, González Zaldívar, Yanetza, Vázquez Mojena, Yaimee, Almaguer-Gotay, Dennis, Almaguer Mederos, Luis Enrique, and Rodríguez Labrada, Roberto

Subjects
GENETIC polymorphisms, POLYMORPHISM (Zoology), LOCUS (Genetics), CELL nuclei, POPULATION genetics
Abstract

The role of short, large or intermediate normal alleles (ANs) of the ataxin-2 gene in generating expanded alleles (EAs) causing spinocerebellar ataxia type 2 (SCA2) is poorly understood. It has been postulated that SCA2 prevalence is related to the frequency of large ANs. SCA2 shows the highest worldwide prevalence in Cuban population, which is therefore a unique source for studying the relationship between the frequency of large and intermediate alleles and the frequency of SCA2 mutation. Through genetic polymorphism analyses in a comprehensive sample (∼3000 chromosomes), we show that the frequency of large ANs in the ataxin-2 gene is the highest worldwide, although short ANs are also frequent. This highly polymorphic population displayed also high variability in the CAG sequence, featured by loss of the anchor CAA interruption(s). In addition, large ANs showed germinal and somatic instability. Our study also includes related genotypic, genealogical and haplotypic data and provides substantial evidence with regard to the role of large and intermediate alleles in the generation of pathological EAs. [ABSTRACT FROM AUTHOR]

Published
2012
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