105 results on '"Mario Cornejo-Olivas"'
Search Results
2. O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients
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Ryan Taft, Erin Thorpe, John Belmont, Taylor Williams, Chad Shaw, Jason Button, Julia Ortega, Keisha Robinson, Marilyn Jones, Diane Masser-Frye, Donald Basel, Chester Brown, Keith Vaux, Aime Lumaka, Fabio Sirchia, Milagros Dueñas Roque, Mario Cornejo-Olivas, Jeny Bazalar-Montoya, Nora Urraca, Alejandra Salguero, Samuel Wiafe, Romina Foster-Bonds, Erin Royer, Michelle Gallas, Pilar Magoulas, Adeline Vanderver, Marwan Shinawi, Alan Taylor, Kristen Fishler, Duncan Henry, Daria Salyakina, Kate Gibson, Melissa Lah, Alka Malhotra, James Avecilla, Andrew Warren, Denise Perry, and Max Arseneault
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Genetics ,QH426-470 ,Medicine - Published
- 2023
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3. P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population
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Brittany Thomas, Akanchha Kesari, Aime Lumaka, Mario Cornejo-Olivas, David Ward, Parul Jayakar, Donald Basel, Marilyn Jones, Erin Thorpe, Denise Perry, and Ryan Taft
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Genetics ,QH426-470 ,Medicine - Published
- 2023
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4. Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.
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Eva-Juliane Vollstedt, Harutyun Madoev, Anna Aasly, Azlina Ahmad-Annuar, Bashayer Al-Mubarak, Roy N Alcalay, Victoria Alvarez, Ignacio Amorin, Grazia Annesi, David Arkadir, Soraya Bardien, Roger A Barker, Melinda Barkhuizen, A Nazli Basak, Vincenzo Bonifati, Agnita Boon, Laura Brighina, Kathrin Brockmann, Andrea Carmine Belin, Jonathan Carr, Jordi Clarimon, Mario Cornejo-Olivas, Leonor Correia Guedes, Jean-Christophe Corvol, David Crosiers, Joana Damásio, Parimal Das, Patricia de Carvalho Aguiar, Anna De Rosa, Jolanta Dorszewska, Sibel Ertan, Rosangela Ferese, Joaquim Ferreira, Emilia Gatto, Gençer Genç, Nir Giladi, Pilar Gómez-Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycal Hentati, Dorota Hoffman-Zacharska, Sergey N Illarioshkin, Joseph Jankovic, Silvia Jesús, Valtteri Kaasinen, Anneke Kievit, Peter Klivenyi, Vladimir Kostic, Dariusz Koziorowski, Andrea A Kühn, Anthony E Lang, Shen-Yang Lim, Chin-Hsien Lin, Katja Lohmann, Vladana Markovic, Mika Henrik Martikainen, George Mellick, Marcelo Merello, Lukasz Milanowski, Pablo Mir, Özgür Öztop-Çakmak, Márcia Mattos Gonçalves Pimentel, Teeratorn Pulkes, Andreas Puschmann, Ekaterina Rogaeva, Esther M Sammler, Maria Skaalum Petersen, Matej Skorvanek, Mariana Spitz, Oksana Suchowersky, Ai Huey Tan, Pichet Termsarasab, Avner Thaler, Vitor Tumas, Enza Maria Valente, Bart van de Warrenburg, Caroline H Williams-Gray, Ruey-Mei Wu, Baorong Zhang, Alexander Zimprich, Justin Solle, Shalini Padmanabhan, and Christine Klein
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Medicine ,Science - Abstract
Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or strong genetic risk factor. However, the vast majority of our present data on monogenic PD is based on the investigation of patients of European White ancestry, leaving a large knowledge gap on monogenic PD in underrepresented populations. Gene-targeted therapies are being developed at a fast pace and have started entering clinical trials. In light of these developments, building a global network of centers working on monogenic PD, fostering collaborative research, and establishing a clinical trial-ready cohort is imperative. Based on a systematic review of the English literature on monogenic PD and a successful team science approach, we have built up a network of 59 sites worldwide and have collected information on the availability of data, biomaterials, and facilities. To enable access to this resource and to foster collaboration across centers, as well as between academia and industry, we have developed an interactive map and online tool allowing for a quick overview of available resources, along with an option to filter for specific items of interest. This initiative is currently being merged with the Global Parkinson's Genetics Program (GP2), which will attract additional centers with a focus on underrepresented sites. This growing resource and tool will facilitate collaborative research and impact the development and testing of new therapies for monogenic and potentially for idiopathic PD patients.
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- 2023
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5. Knowledge and Attitudes for the Management of Behavioral Variant of Frontotemporal Dementia
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Sheila Castro-Suarez, Erik Guevara-Silva, César Caparó-Zamalloa, Victor Osorio-Marcatinco, Maria Meza-Vega, Bruce Miller, and Mario Cornejo-Olivas
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attitude ,bvFTD ,frontotemporal dementia (FTD) ,health knowledge ,practice ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Background: The diagnosis of the behavioral variant of frontotemporal dementia (bvFTD) can be especially challenging and is relatively underdiagnosed. There is scarce information on training and attitudes from care providers facing bvFTD in settings with limited resources. We aim to describe clinical knowledge and attitudes facing bvFTD from neurologists, psychiatrists, and residents in Peru.Methods: Potential participants received invitations by email to complete an online questionnaire. In addition, we reviewed 21 curricula from undergraduate medical schools' programs offered by the main schools of medicine in Peru during 2020 and 2021.Results: A total of 145 participants completed the survey. The responders were neurologists (51%), psychiatrists (25%), and residents in neurology or psychiatry (24%). Only 26% of the respondents acknowledged receiving at least one class on bvFTD in undergraduate medical training, but 66.6% received at least some training during postgraduate study. Participants identified isolated supportive symptoms for bvFTD; however, only 25% identified the possible criteria and 18% the probable bvFTD criteria. They identified MoCA in 44% and Frontal Assessment Battery (39%) as the most frequently used screening test to assess bvFTD patients. Memantine and Acetylcholinesterase inhibitors were incorrectly indicated by 40.8% of participants. Seventy six percentage of participants indicated that they did not provide education and support to the caregiver. The dementia topic was available on 95.2%, but FTD in only 19%.Conclusion: Neuropsychiatry medical specialists in Peru receive limited training in FTD. Their clinical attitudes for treating bvFTD require appropriate training focused on diagnostic criteria, assessment tools, and pharmacological and non-pharmacological management.
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- 2022
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6. MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
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María Luisa Guevara‐Fujita, Francia Huaman‐Dianderas, Daisy Obispo, Rodrigo Sánchez, Victor Barrenechea, Diana Rojas‐Málaga, Alejandro Estrada‐Cuzcano, Milana Trubnykova, Mario Cornejo‐Olivas, Victoria Marca, Bertha Gallardo, Milagros Dueñas‐Roque, Ana Protzel, Carlos Castañeda, Hugo Abarca, Luis Celis, Jorge La Serna‐Infantes, and Ricardo Fujita
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Becker muscular dystrophy ,Duchenne muscular dystrophy ,molecular diagnosis ,multiple ligation probe amplification ,targeted Next Generation Sequencing ,Genetics ,QH426-470 - Abstract
Abstract Background We report the molecular analysis of the DMD gene in a group of Peruvian patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly characterize mutations in this population. Methods We used the combination of multiplex ligation‐dependent probe amplification (MLPA) and sequencing analysis of the DMD gene. We recruited Peruvian patients in 2 years from reference national hospitals. We performed DNA tests in 152 patients, checking first exon deletion/duplication by MLPA, and subsequently, if negative, samples were sequenced to detect point mutations. Results The average age for diagnosis was 9.8 years, suggesting a delay for timely diagnosis and care. We found causal DMD mutations in 125 patients: 72 (57.6%) exon deletions/duplications (41.6% deletions, 16.0% duplications), and 53 (42.4%) point mutations (27.2% nonsense, 9.6% small indels, and 5.6% splice site). Conclusion Due to our genetic background, we expected a higher number of novel and recurrent causal mutations in our sample. Results showed 16% of novel mutations, similar to other well‐studied populations.
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- 2021
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7. Prevalence of stroke survival in rural communities living in northern Peru.
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Luz M Moyano, Silvia M Montano, Percy Vilchez Barreto, Narcisa Reto, Luis Larrauri, Nicanor Mori, Mario Cornejo-Olivas, Erik Guevara-Silva, Fernando Urizar, Enrique Najar, Ricardo Gamboa, Cintya Azabache, Raquel Herrer Ticse, Lucia Bolivar-Herrada, Alex Doud, Peggy Martinez, J Jaime Miranda, Joseph R Zunt, Hector H García, and Cysticercosis Working Group for Peru
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Medicine ,Science - Abstract
Background and purposeStroke is the leading cause of neurological impairment in the South American Andean region. However, the epidemiology of stroke in the region has been poorly characterized.MethodsWe conducted a staged three-phase population-based study applying a validated eight-question neurological survey in 80 rural villages in Tumbes, northern Peru, then confirmed presence or absence of stroke through a neurologist's examination to estimate the prevalence of stroke.ResultsOur survey covered 90% of the population (22,278/24,854 individuals, mean age 30±21.28, 48.45% females), and prevalence of stroke was 7.05/1,000 inhabitants. After direct standardization to WHO's world standard population, adjusted prevalence of stroke was 6.94/1,000 inhabitants. Participants aged ≥85 years had higher stroke prevalence (>50/1000 inhabitants) compared to other stratified ages, and some unusual cases of stroke were found among individuals aged 25-34 years. The lowest age reported for a first stroke event was 16.8 years. High blood pressure (aPR 4.2 [2.7-6.4], p>0.001), and sedentary lifestyle (aPR 1.6 [1.0-2.6], p = 0.045) were more prevalent in people with stroke.ConclusionsThe age-standardized prevalence of stroke in this rural coastal Peruvian population was slightly higher than previously reported in studies from surrounding rural South American settings, but lower than in rural African and Asian regions. The death rate from stroke was much higher than in industrialized and middle-income countries.
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- 2021
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8. C9orf72 Hexanucleotide Repeat in Huntington-Like Patients: Systematic Review and Meta-Analysis
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Carlos Alva-Diaz, Christoper A. Alarcon-Ruiz, Kevin Pacheco-Barrios, Nicanor Mori, Josmel Pacheco-Mendoza, Bryan J. Traynor, Andrea Rivera-Valdivia, Pongtawat Lertwilaiwittaya, Thomas D. Bird, and Mario Cornejo-Olivas
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C9orf72 ,Huntington like disorders ,systematic review ,chorea ,prevalence studies ,Genetics ,QH426-470 - Abstract
Introduction: Patients with Huntington-Like disorders (HLD) comprise a variety of allelic disorders sharing a Huntington phenotype. The hexanucleotide repeat expansion of the C9orf72 gene could explain part of the HLD etiology. We aimed to conduct a systematic review and meta-analysis looking for the frequency of the hexanucleotide repeat expansion of the C9orf72 gene in HLD patients.Methods: The protocol was registered on the International Prospective Register of Systematic Reviews database (PROSPERO) (registration number: CRD42018105465). The search was carried out in Medline, Scopus, Web of Science, and Embase in April 2018, and updated in July 2020. Observational studies reporting patients with HLD carrying the hexanucleotide repeat expansion in the C9orf72 gene were selected and reviewed; this process was duplicated. The cutoff threshold for considering the hexanucleotide expansion as a pathogenic variant was equal to or >30 G4C2 repeats. Cases with intermediate alleles with 20–29 repeat are also analyzed. Pooled frequency and 95% CI were calculated using random-effects models.Results: Nine out of 219 studies were selected, reporting 1,123 affected individuals with HLD. Among them, 18 individuals carried C9orf72 expansion, representing 1% (95% CI: 0–2%, I2 = 0%) of the pooled frequency. Seven selected studies came from European centers, one was reported at a US center, and one came from a South-African center. We identified five individuals carrying intermediate alleles representing 3% (95% CI: 0–14%, I2 = 78.5%).Conclusions: The frequency of C9orf72 unstable hexanucleotide repeat expansion in HLD patients is very low. Further studies with more accurate clinical data and from different ethnic backgrounds are needed to confirm this observation.
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- 2020
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9. Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry
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Mario Cornejo-Olivas, Luis Torres, Mario R. Velit-Salazar, Miguel Inca-Martinez, Pilar Mazzetti, Carlos Cosentino, Federico Micheli, Claudia Perandones, Elena Dieguez, Victor Raggio, Vitor Tumas, Vanderci Borges, Henrique B. Ferraz, Carlos R. M. Rieder, Artur Shumacher-Schuh, Carlos Velez-Pardo, Marlene Jimenez-Del-Rio, Francisco Lopera, Jorge Chang-Castello, Brennie Andreé-Munoz, Sarah Waldherr, Dora Yearout, Cyrus P. Zabetian, and Ignacio F. Mata
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Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Genetic risk: Uncovering ethnic-specific mutations A new study reveals the frequency of Leucine-Rich Repeat Kinase 2 (LRRK2) mutations associated with Parkinson’s disease (PD) in Latin Americans. Ignacio F. Mata at the University of Washington and the VA Puget Sound Health Care System, Seattle, USA, and colleagues from six South American countries have screened the largest cohort of Latino PD patients ever assembled (1739) and 1104 healthy controls for LRRK2 mutations that are known to cause PD in European-derived populations. They found that the p.G2019S missense mutation was the most common, although its frequency varied greatly between countries and was directly correlated with European ancestry. In contrast, the p.R1441G mutation which is common in Spain is rare in Latin America. Further analyses of this cohort will help to further characterize the genetic profile of PD patients in Latin America and contribute to the development of personalized medicines.
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- 2017
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10. The first report of CADASIL in Peru: Olfactory dysfunction on initial presentation
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Anastasia Vishnevetsky, Miguel Inca-Martinez, Karina Milla-Neyra, Danny Moises Barrientos-Iman, Ivan Cornejo-Herrera, Carlos Cosentino, and Mario Cornejo-Olivas
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Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that is characterized by migraines, subcortical vascular events, cognitive decline, and mood disturbances. However, many CADASIL cases present with unusual symptoms such as status epilepticus, a movement disorder, or sensory dysfunction. This study describes the clinical, genetic, and radiologic characteristics of a Peruvian family with CADASIL in which multiple family members presented with severe olfactory deficits. Seven members of the family have symptoms suggestive of CADASIL, with genetic testing revealing R133C mutations in the two patients who underwent genetic testing. Cognitive testing and olfactory identification testing (Smell Identification Test) were performed in three CADASIL patients revealing total anosmia in two tested patients and severe hyposmia in the other. Olfactory dysfunction has been associated with various neurologic and psychiatric conditions, though few studies have linked it with neurovascular disorders such as CADASIL. This first reported case of CADASIL in Peru emphasizes that symptomatic olfactory dysfunction may be an unusual presentation of CADASIL and that olfactory dysfunction is important to evaluate in CADASIL patients. Keywords: CADASIL, Stroke, Olfactory dysfunction, Olfaction, MRI, NOTCH3, Peru, South America
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- 2016
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11. Guillain–Barre syndrome outbreak in Peru: Association with polymorphisms in IL‐17, ICAM1, and CD1
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Luis Jaramillo‐Valverde, Kelly S. Levano, Isolina Villanueva, Meylin Hidalgo, Marco Cornejo, Pilar Mazzetti, Mario Cornejo‐Olivas, Cesar Sanchez, Julio A. Poterico, Julio Valdivia‐Silva, and Heinner Guio
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Guillain-Barre syndrome ,CD1 ,genetic polymorphism ,ICAM1 ,IL‐17 ,Genetics ,QH426-470 - Abstract
Abstract Background Guillain–Barre Syndrome (GBS) is considered a complex disorder with significant environmental effect and genetic susceptibility. Genetic polymorphisms in CD1E, CD1A, IL‐17, and/or ICAM1 had been proposed as susceptibility genetic variants for GBS mainly in Caucasian population. This study explores the association between selected polymorphisms in these genes and GBS susceptibility in confirmed GBS cases reported in mestizo population from northern Peru during the most recent GBS outbreak of May 2018. Methods A total of nine nonrelated cases and 11 controls were sequenced for the polymorphic regions of CD1A, CD1E, IL‐17, and ICAM1. Results We found a significant protective association between heterozygous GA genotype in ICAM1 (241Gly/Arg) and GBS (p
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- 2019
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12. Neurogenetics in Peru, example of translational research
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Pilar Mazzetti, Miguel Inca-Martínez, Indira Tirado-Hurtado, Karina Milla-Neyra, Gustavo Silva-Paredes, Anastasia Vishnevetsky, and Mario Cornejo-Olivas
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investigación traslacional ,neurología ,genética ,Medicine ,Medicine (General) ,R5-920 - Abstract
Neurogenetics is an emerging discipline in Peru that links basic research with clinical practice. The Neurogenetics Research Center located in Lima, Peru is the only unit dedicated to the specialized care of neurogenetic diseases in the country. From the beginning, neurogenetics research has been closely linked to the study of Huntington’s Disease (HD), from the PCR genotyping of the HTT gene, to the current haplogroup studies in HD. Research in other monogenic diseases led to the implementation of alternative methodologies for the genotyping of Fragile X and Myotonic Dystrophy Type 1. Both, national and international collaborative efforts have facilitated the discovery of new genetic variants in complex multigenic diseases such as Parkinson’s disease and Alzheimer’s disease. Additionally, multidisciplinary education and mentoring have allowed for the training of new neurogenetics specialists, supporting the sustained growth of the discipline in the country. The promotion of research in Peru has spurred the growth of neurogenetics research, although limitations in infrastructure, technology, and education remain a challenge for the further growth of research in this field.
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- 2015
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13. Panda with 'bright eyes': a rare sign in Wilson disease
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Elison SARAPURA-CASTRO, Jorge RAMÍREZ-QUIÑONES, and Mario CORNEJO-OLIVAS
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Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2020
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14. Estrategia de genotipado del gen FMR1: Método de diagnóstico alternativo para el Síndrome X Frágil y otras enfermedades por expansión de trinucleotidos
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Saúl Lindo-Samanamud, Mario Cornejo-Olivas, Olimpio Ortega, Victoria Marca, Keren Espinoza-Huertas, and Pilar Mazzetti
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Citosinas metilación ,repetición de microsatélite ,uracilo ,Medicine - Abstract
Objetivos: Diseñar una estrategia alternativa por PCR para el genotipado de secuencias ricas en citosinas, basada en modificación nucleotídica. Material y métodos: Se modificó el gen FMR1 nativo de ocho individuos clínicamente no afectados por el Síndrome X frágil, cambiando las citosinas por uracilos, empleando bisulfito de sodio. El ADN modificado fue purificado y cuantificado por espectrofotometría. Las estructuras alternativas y potenciales islas CpG que adopta el microsatélite inestable fueron simuladas con los programas MFOLD y CpGplot. Se generaron cebadores específicos que hibriden tanto con el microsatélite modificado (Primer T) y con una secuencia modificada de las islas CpG (Primer M), utilizando el programa MethPrimer. Finalmente, ambas secuencias fueron amplificadas por PCR y los amplicones fueron separados por electroforesis en gel de poliacrilamida (PAGE por sus siglas en inglés) al 6% y visualizados con tinción de nitrato de plata. Resultados: La modificación del ADN fue evidenciada por espectrofotometría al uracilo. Las estructuras observadas en la simulación fueron las horquillas encontrándose dos potenciales islas CpG. La amplificación con los cebadores T, confirmó el diseño in silico desarrollado para abordar la estructura en horquillas. La amplificación con los cebadores M permitió detectar metilación de la primera isla CpG del gen FMR1.Conclusión: Se propone un diseño alternativo para amplificación de secuencias de microsatélite que contengan citosinas metiladas y no metiladas. Se requieren estudios posteriores con muestras de ADN que contengan microsatélites muy expandidos para validar su aplicación para diagnóstico molecular.
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- 2013
15. Asociación entre el polimorfismo genético de la apolipoproteína E (ApoE) y la enfermedad de Parkinson
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Victoria Marca, Oscar Acosta, Luis Torres, Olimpio Ortega, Mario Cornejo-Olivas, Saúl Lindo-Samanamud, Doris Huerta, Carlos Cosentino, Oscar Núñez, and Pilar Mazzetti
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Enfermedad de Parkinson ,alelos ,apolipoproteína E ,Medicine ,Medicine (General) ,R5-920 - Abstract
Introducción: En nuestro país, con el incremento en la esperanza de vida, existe una tendencia creciente de enfermedades neurodegenerativas, por lo que se hace necesario realizar estudios sobre factores de riesgo genético en personas afectadas con la enfermedad de Parkinson (EP), entre ellos el gen de la apolipoproteína E (ApoE), ya que esta asociación es desconocida en nuestra población. Objetivo: Determinar la asociación del polimorfismo en el gen ApoE con la EP. Diseño: Estudio asociativo, observacional tipo casos y controles. Lugar: Instituto Nacional de Ciencias Neurológicas, Lima, Perú. Participantes: Personas de ambos sexos, 163 pacientes con la EP y 176 controles. Intervenciones: Extracción de ADN genómico según metodología estándar. Análisis del gen APOE mediante técnica PCR-RFLP. Principales medidas de resultados: Frecuencias genotípicas y alélicas del gen ApoE en los casos y controles, medidas de asociación y de riesgo. Resultados: No se encontró diferencias significativas entre el grupo control y los pacientes según genotipo de ApoE. La frecuencia del alelo ε4 fue similar en pacientes y en controles. El odds ratio para el alelo ε4 de la ApoE fue 1,0852 (IC 95%: 0,5812 a 2,0266). La edad de inicio de la EP no tuvo relaciσn con los genotipos ApoE. Conclusiones: El alelo ε4 de la ApoE no podrνa ser considerado un factor de riesgo para la EP, y los genotipos de la ApoE no se asociaron con la edad de inicio en esta muestra evaluada.
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- 2013
16. Rol del estado en los ensayos clínicos
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Pilar Mazzetti, Gustavo Silva-Paredes, and Mario Cornejo-Olivas
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Ensayos clínicos aleatorios ,Políticas públicas de salud ,Regulación y fiscalización en salud ,Medicine ,Medicine (General) ,R5-920 - Abstract
La regulación de los ensayos clínicos por el Estado es un proceso en constante cambio y adecuación, cuyo reto actual consiste en salvaguardar la seguridad de los participantes y equilibrar la carga administrativa. El desarrollo y la regulación de los ensayos clínicos en los distintos países varían según la realidad, el contexto, su ejecución nacional o multinacional, condicionando que la regulación puramente nacional resulte insuficiente y se precise conocer parte de la regulación internacional. El objetivo de esta publicación es mostrar una visión global del rol de Estado en la regulación de los ensayos clínicos en distintas realidades. Para ello, se ha realizado una revisión de la regulación en la Unión Europea, Estados Unidos de Norteamérica y algunos países de Latinoamérica, para llegar finalmente al Perú. La tendencia actual en la regulación de los ensayos clínicos, se caracteriza por el incremento en los estándares de calidad, el garantizar la seguridad de los participantes, promover la transparencia, la disminución de los procesos burocráticos y el fortalecimiento de los comités de ética, en el marco de procesos democráticos abiertos, que convoquen e integren a todos los interesados en procesos dinámicos basados en el conocimiento actual y los cambios que se suceden. El reto actual es promover el desarrollo de ensayos clínicos desde el Estado (universidades, centros de investigación, institutos especializados, hospitales, etc.) para los aspectos que el país necesita, incluidos medicamentos huérfanos, enfermedades prevalentes y abandonadas, y el uso terapéutico de los principios activos originarios.
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- 2012
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17. Polimorfismo genético de la Apolipoproteína E en una población peruana Genetic polymorphism of Apolipoprotein E in a peruvian population
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Victoria Marca, Oscar Acosta, Mario Cornejo-Olivas, Olimpio Ortega, Doris Huerta, and Pilar Mazzetti
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Alelos ,Apolipoproteínas E ,Frecuencia de los genes ,Alleles ,Apolipoproteins E ,Gene frequency ,Medicine ,Medicine (General) ,R5-920 - Abstract
Objetivos. Determinar las frecuencias genotípicas y alélicas del gen APOE en una muestra poblacional peruana. Materiales y métodos. Estudio transversal analítico en 189 trabajadores voluntarios, aparentemente sanos, del Instituto Nacional de Ciencias Neurológicas en Lima, Perú, divididos en cinco grupos según departamento de origen y ascendencia en dos generaciones. El ADN genómico fue amplificado mediante PCR-RFLP. Se realizó la detección de los fragmentos resultantes por electroforesis en gel de poliacrilamida al 12 %. Resultados. El alelo ε3 es el más frecuente en todos los grupos (93,9 %), con bajas frecuencias de los alelos ε4 (5 %) y ε2 (1,1 %). El anαlisis de heterocigosidad (H) en cada grupo muestra una diversidad intermedia entre 10 y 20 %. Las diversidades genιticas poblacional (Ht) e intrapoblacional (Hs), son 14,4 y 14,3 % respectivamente, sugiriendo proximidad genética entre los grupos estudiados para el polimorfismo ApoE. Conclusiones. Las frecuencias alélicas del gen ApoE encontradas muestra que el alelo ε3 tiene una de las frecuencias más altas y, el alelo ε4, una de las más bajas respecto a otros grupos poblacionales del mundo, con posibles implicancias en el riesgo para enfermedades neurológicas, cardiovasculares y otras en nuestro país.Objectives. To determine the allelic and genotypic frequencies of the APOE gene in a sample of a population group in Peru. Materials and methods. Cross-sectional analytic study in 189 apparently healthy volunteers, workers of the Instituto Nacional de Ciencias Neurológicas in Lima, Perú, divided into 5 groups by birth department and two generations ancestry. Genomic DNA was amplified using PCR-RFLP. The resulting fragments were detected by 12 % polyacrylamide gel electrophoresis. Results. The ε3 allele is the most frequent in all the groups (93.9 %), with low ε4 (5 %) and ε2 (1.1 %) allele frequencies. The analysis of heterozygosity (H) for each group displays intermediate diversity between 10 and 20%. Population genetic diversity (Ht) and diversity within populations (Hs) are 14.43 % and 14.31% respectively, suggesting genetic proximity between the studied groups for the ApoE polymorphism. Conclusions. Allele frequencies of the ApoE gene found show that allele ε3 has one of the highest frequencies and ε4 allele one of the lowest compared to other population groups in the world, with possible implications in the risk of neurological, cardiovascular and other diseases in our country.
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- 2011
18. Neurogenética en el Perú, ejemplo de investigación traslacional
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Pilar Mazzetti, Miguel Inca-Martínez, Indira Tirado-Hurtado, Karina Milla-Neyra, Gustavo Silva-Paredes, Anastasia Vishnevetsky, and Mario Cornejo-Olivas
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investigación traslacional ,neurología ,genétic ,Medicine ,Medicine (General) ,R5-920 - Abstract
La neurogenética es una disciplina emergente en el Perú que vincula la investigación básica con la práctica clínica. El Centro de Investigación Básica en Neurogenética, es el único centro en el Perú dedicado a la atención especializada de enfermedades neurogenéticas. La investigación en esta área está estrechamente ligada a la enfermedad de Huntington, desde la genotipificación del gen HTT por PCR, hasta los actuales estudios de haplogrupos en esta enfermedad. La investigación en otras enfermedades monogénicas permitió la implementación de metodologías alternativas para la genotipificación del síndrome X frágil y distrofia miotónica tipo 1. Esfuerzos colaborativos nacionales e internacionales han permitido conocer nuevas variantes genéticas en enfermedades complejas, como la enfermedad de Parkinson y Alzheimer. El entrenamiento multidisciplinario y la mentoría fomentan la formación de nuevos especialistas en neurogenética, permitiendo el crecimiento sostenido de esta disciplina en el país. El impulso de la investigación en el Perú ha impulsado el crecimiento de la investigación en neurogenética; sin embargo, las limitaciones en infraestructura, tecnología y capacitación aún son un reto para el crecimiento de investigación en esta disciplina
19. Rol del estado en los ensayos clínicos
- Author
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Pilar Mazzetti, Gustavo Silva-Paredes, and Mario Cornejo-Olivas
- Subjects
Clinical trials, randomized ,Health public policy ,Health care coordination and monitoring ,Medicine ,Medicine (General) ,R5-920 - Abstract
La regulación de los ensayos clínicos por el Estado es un proceso en constante cambio y adecuación, cuyo reto actual consiste en salvaguardar la seguridad de los participantes y equilibrar la carga administrativa. El desarrollo y la regulación de los ensayos clínicos en los distintos países varían según la realidad, el contexto, su ejecución nacional o multinacional, condicionando que la regulación puramente nacional resulte insuficiente y se precise conocer parte de la regulación internacional. El objetivo de esta publicación es mostrar una visión global del rol de Estado en la regulación de los ensayos clínicos en distintas realidades. Para ello, se ha realizado una revisión de la regulación en la Unión Europea, Estados Unidos de Norteamérica y algunos países de Latinoamérica, para llegar finalmente al Perú. La tendencia actual en la regulación de los ensayos clínicos, se caracteriza por el incremento en los estándares de calidad, el garantizar la seguridad de los participantes, promover la transparencia, la disminución de los procesos burocráticos y el fortalecimiento de los comités de ética, en el marco de procesos democráticos abiertos, que convoquen e integren a todos los interesados en procesos dinámicos basados en el conocimiento actual y los cambios que se suceden. El reto actual es promover el desarrollo de ensayos clínicos desde el Estado (universidades, centros de investigación, institutos especializados, hospitales, etc.) para los aspectos que el país necesita, incluidos medicamentos huérfanos, enfermedades prevalentes y abandonadas, y el uso terapéutico de los principios activos originarios.
20. Enfermedad de Kennedy en el Perú: Primeros casos con diagnóstico molecular
- Author
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Víctor Gómez-Calero, Mario Cornejo-Olivas, Olimpio Ortega, Victoria Marca, Saúl Lindo-Samanamud, Martha Flores, Luis Torres-Ramírez, and Pilar Mazzetti
- Subjects
atrofia bulboespinal ligada al x ,receptores androgénicos ,enfermedades genéticas ligadas al cromosoma x ,Medicine ,Medicine (General) ,R5-920 - Abstract
La enfermedad de Kennedy es un trastorno neurodegenerativo de herencia recesiva ligada al cromosoma X, de inicio en la adultez, caracterizado por degeneración progresiva de las neuronas motoras espinales, debido a una mutación dinámica del gen del receptor de andrógeno. Se presentan tres familias (cinco casos) con temblor, calambres, debilidad muscular generalizada lentamente progresiva con atrofia, afectación de músculos bulbares y alteraciones endocrinas. El estudio neurofisiológico demostró compromiso de segunda motoneurona. El análisis molecular mostró una expansión anormal de tripletes citosina-adenina-guanina en el gen de receptor de andrógeno en todos los casos. Todos los pacientes cursaron con una presentación clínica típica de la enfermedad siendo los primeros casos de enfermedad de Kennedy con diagnóstico molecular realizado en el Perú.
21. Neurogenética en el Perú, ejemplo de investigación traslacional
- Author
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Pilar Mazzetti, Miguel Inca-Martínez, Indira Tirado-Hurtado, Karina Milla-Neyra, Gustavo Silva-Paredes, Anastasia Vishnevetsky, and Mario Cornejo-Olivas
- Subjects
translational research ,neurology ,genetics ,Medicine ,Medicine (General) ,R5-920 - Abstract
La neurogenética es una disciplina emergente en el Perú que vincula la investigación básica con la práctica clínica. El Centro de Investigación Básica en Neurogenética, es el único centro en el Perú dedicado a la atención especializada de enfermedades neurogenéticas. La investigación en esta área está estrechamente ligada a la enfermedad de Huntington, desde la genotipificación del gen HTT por PCR, hasta los actuales estudios de haplogrupos en esta enfermedad. La investigación en otras enfermedades monogénicas permitió la implementación de metodologías alternativas para la genotipificación del síndrome X frágil y distrofia miotónica tipo 1. Esfuerzos colaborativos nacionales e internacionales han permitido conocer nuevas variantes genéticas en enfermedades complejas, como la enfermedad de Parkinson y Alzheimer. El entrenamiento multidisciplinario y la mentoría fomentan la formación de nuevos especialistas en neurogenética, permitiendo el crecimiento sostenido de esta disciplina en el país. El impulso de la investigación en el Perú ha impulsado el crecimiento de la investigación en neurogenética; sin embargo, las limitaciones en infraestructura, tecnología y capacitación aún son un reto para el crecimiento de investigación en esta disciplina
22. Enfermedad de Kennedy en el Perú: Primeros casos con diagnóstico molecular
- Author
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Víctor Gómez-Calero, Mario Cornejo-Olivas, Olimpio Ortega, Victoria Marca, Saúl Lindo-Samanamud, Martha Flores, Luis Torres-Ramírez, and Pilar Mazzetti
- Subjects
atrofia bulboespinal ligada al x ,receptores androgénicos ,enfermedades genéticas ligadas al cromosoma x ,Medicine ,Medicine (General) ,R5-920 - Abstract
La enfermedad de Kennedy es un trastorno neurodegenerativo de herencia recesiva ligada al cromosoma X, de inicio en la adultez, caracterizado por degeneración progresiva de las neuronas motoras espinales, debido a una mutación dinámica del gen del receptor de andrógeno. Se presentan tres familias (cinco casos) con temblor, calambres, debilidad muscular generalizada lentamente progresiva con atrofia, afectación de músculos bulbares y alteraciones endocrinas. El estudio neurofisiológico demostró compromiso de segunda motoneurona. El análisis molecular mostró una expansión anormal de tripletes citosina-adenina-guanina en el gen de receptor de andrógeno en todos los casos. Todos los pacientes cursaron con una presentación clínica típica de la enfermedad siendo los primeros casos de enfermedad de Kennedy con diagnóstico molecular realizado en el Perú.
23. Ataxia de Friedreich, revisión y actualización de la literatura con búsqueda sistemática de casos en Latinoamérica
- Author
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Mario Cornejo-Olivas, Elison Sarapura-Castro, Wilfor Aguirre-Quispe, Alfonso Uribe-León, Adriana Calle-Nuñez, and María Alfaro-Olivera
- Subjects
General Agricultural and Biological Sciences - Abstract
La Ataxia de Friedreich (AF) es una enfermedad neurodegenerativa autosómica recesiva con compromiso multisistémico. En esta revisión, se actualizan aspectos epidemiológicos, fisiopatológicos y clínico-terapéuticos y se conduce una búsqueda sistemática de casos de AF reportados en Latinoamérica. La prevalencia de AF en poblaciones caucásicas es estimada entre 2 y 5 casos por 100 000 habitantes. En Latinoamérica se han publicado 35 estudios que reúnen 1481 casos en 6 países. Causada por la expansión anormal de repeticiones GAA en el gen FXN, la etiopatogenia está asociada a una reducción en los niveles de la proteína frataxina (que altera el metabolismo energético) y el acúmulo de hierro mitocondrial. El fenotipo clásico de AF suele comenzar antes de los 25 años, aunque hay otros de inicio tardío y retención de reflejos. La sintomatología se caracteriza por ataxia progresiva, alteración sensitiva, arreflexia, disartria, y alteraciones oculomotoras, además de compromiso cardiaco, endocrino y musculoesquelético. El diagnóstico requiere evaluación neurológica detallada, estudios neurofisiológicos, neuroimágenes y pruebas bioquímicas pero el enfoque determinante es el estudio genético que demuestre variantes genéticas bialélicas en el gen FXN. El manejo es multidisciplinario, orientado a aminorar los síntomas, prevenir complicaciones y brindar asesoramiento genético apropiado. Recientemente se ha aprobado el primer tratamiento farmacológico para AF con varios más en fases de experimentación.
- Published
- 2023
24. Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review
- Author
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Malco Rossi, Moath Hamed, Jon Rodríguez‐Antigüedad, Mario Cornejo‐Olivas, Marianthi Breza, Katja Lohmann, Christine Klein, Rajasumi Rajalingam, Connie Marras, and Bart P. van de Warrenburg
- Subjects
All institutes and research themes of the Radboud University Medical Center ,Neurology ,Neurology (clinical) ,Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] - Abstract
Contains fulltext : 291518.pdf (Publisher’s version ) (Open Access) Spinocerebellar ataxia type 17 or ATX-TBP is a CAG/CAA repeat expansion disorder characterized by marked clinical heterogeneity. Reports of affected carriers with subthreshold repeat expansions and of patients with Parkinson's disease (PD) with expanded repeats have cast doubt on the established cutoff values of the expansions and the phenotypic spectrum of this disorder. The objective of this systematic review was to explore the genotype-phenotype relationships for repeat expansions in TBP to delineate the ATX-TBP phenotype and reevaluate the pathological range of repeat expansions. The International Parkinson and Movement Disorder Society Genetic Mutation Database (MDSGene) standardized data extraction protocol was followed. Clinically affected carriers of reported ATX-TBP expansions were included. Publications that contained repeat sizes in screened cohorts of patients with PD and/or healthy individuals were included for a separate evaluation of cutoff values. Phenotypic and genotypic data for 346 ATX-TBP patients were curated. Overall, 97.7% of the patients had ≥41 repeats, while 99.6% of patients with PD and 99.9% of healthy individuals had ≤42 repeats, with a gray zone of reduced penetrance between 41 and 45 repeats. Pure parkinsonism was more common in ATX-TBP patients with 41 to 45 repeats than in the group with ≥46 repeats, which conversely more often presented with a complex phenotype with mixed movement disorders. An updated genotype-phenotype assessment for ATX-TBP is provided, and new repeat expansion cutoff values of reduced penetrance (41-45 expanded repeats) and full penetrance (46-66 expanded repeats) are proposed. These adjusted cutoff values will have diagnostic and counseling implications and may guide future clinical trial protocol. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
- Published
- 2023
25. Ataxia-telangiectasia: una revisión desde la etiopatogenia al manejo actual con descripción de casos reportados en Perú
- Author
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Mario Cornejo-Olivas, Elison Sarapura-Castro, Angélica López-Saavedra, Wilfor Aguirre-Quispe, Franciz Velásquez-Cruz, and Ismael Araujo-Aliaga
- Subjects
Ataxia Telangiectasia ,Proteínas de la Ataxia Telangiectasia Mutada ,Ataxia ,Ataxia Telangiectasia Mutated Proteins ,General Agricultural and Biological Sciences - Abstract
RESUMEN La Ataxia-Telangiectasia (AT) es una rara enfermedad de herencia autosómica recesiva y de afección multisistémica, caracterizada por ataxia progresiva, inmunodeficiencia variable con infecciones recurrentes, riesgo incrementado de neoplasias con o sin telangiectasias óculo-cutáneas. La AT es causada por variantes patogénicas bialélicas en el gen ATM. Su diagnóstico se basa en la sospecha de un cuadro clínico compatible, niveles elevados de alfafetoproteína, atrofia cerebelosa y estudios genéticos. No existe tratamiento curativo de AT y su manejo se basa en medidas de soporte y prevención de complicaciones y asesoramiento genético. En esta revisión, actualizamos la epidemiología, manifestaciones clínicas, diagnóstico y tratamiento de AT incluyendo una búsqueda de casos publicados en el Perú. ABSTRACT Ataxia-Telangiectasia (AT) is a rare autosomal recessive disease with multisystemic involvement, characterized by slowly progressive ataxia, variable immunodeficiency with recurrent infections, increased risk of neoplasms with or without oculocutaneous telangiectasias. AT is caused by biallelic pathogenic variants within the ATM gene. Its diagnosis is based on suspicion of a compatible clinical symptomatology, increased levels of alpha-fetoprotein, cerebellar atrophy, and genetic testing. There is no curative treatment for AT and its management is based on supportive and preventive measures of eventual complications and genetic counseling. This review updates the epidemiology, clinical manifestations, diagnosis, and treatment of AT, including a search for cases published in Peru.
- Published
- 2023
26. The Peruvian Alzheimer Disease Initiative (PeADI): An international effort model to increase diversity in AD research (S15.002)
- Author
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Maryenela Illanes-Manrique, Pedro Mena, Karina Milla-Neyra, Larry Adams, Koni Mejia, Julia Rios-Pinto, Rosario Isasi, Angel Medina-Colque, Gary Beecham, Ivan Cornejo-Herrera, Jeffery Vance, Edward Ochoa-Valle, Sheila Castro-Suarez, Michael L. Cuccaro, Elison Sarapura-Castro, Diana Cubas-Montecino, Mario Cornejo Olivas, and Margaret Pericak-Vance
- Published
- 2023
27. Distonías primarias respondedoras a levodopa (DRD): búsqueda sistemática en Latinoamérica
- Author
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Mario Cornejo-Olivas, Pilar Mazzetti, Luis Torres-Ramírez, Luis Urbina-Ramírez, Carlos Cosentino-Esquerre, Wilfor Aguirre-Quispe, Jorge La Serna-Infantes, Karol Solórzano-Palacios, Elison Sarapura-Castro, and Laura Zelada-Ríos
- Subjects
tyrosine hydroxylase deficiency ,tetrahidrobiopterina ,tetrahydrobiopterin ,Enfermedad de Segawa ,Distonías respondedoras a levodopa ,GTP-cyclohydrolase 1 deficiency ,General Agricultural and Biological Sciences ,Dopa-responsive dystonia ,deficiencia de GTP-ciclohidrolasa 1 ,deficiencia de tirosina hidroxilasa ,Segawa disease - Abstract
Dopa-responsive dystonia (DRD) encompasses a heterogenous group of primary dystonias, caused by enzymatic deficiencies across the amines pathway and, by definition, show as their main characteristic a favorable and sustained response to levodopa. There are up to 6 genes associated with DRD, including pathogenic variants of the GCH1gene as the most frequently involved. The typical presentation of DRD is characterized by start in childhood, lower limb-onset dystonia with daytime fluctuation, mild parkinsonism, and a sustained response to low doses of levodopa. A systematic literature search on DRD reported cases in Latin America is presented. Las distonías que responden a levodopa (DRD, siglas en inglés) abarcan un grupo de distonías primarias, causadas por deficiencias enzimáticas en la vía metabólica de las aminas y, por definición, comparten como característica principal su respuesta favorable y sostenida a levodopa. Existen hasta seis genes asociados a DRD, siendo el gen GCH1 el más frecuentemente involucrado. La presentación típica de esta entidad se caracteriza por su aparición en la niñez, distonía de inicio en miembros inferiores con fluctuación diurna, leve parkinsonismo y respuesta clara a dosis bajas de levodopa. Se incluye una búsqueda sistemática de la literatura con casos de DRD publicados en Latinoamérica.
- Published
- 2022
28. Enfermedad de MELAS en Latinoamérica: revisión temática
- Author
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Mario Cornejo-Olivas, Julio Montoya, Elison Sarapura-Castro, Andrea Rivera- Valdivia, Luis Urbina-Ramírez, Mariana Valdez-Taboada, and Wilfor Aguirre-Quispe
- Subjects
General Agricultural and Biological Sciences - Abstract
Revisión temática sobre la enfermedad de MELAS y casos reportados en Latinoamérica entre 1990 y 2021, mediante búsquedas en las bases de datos LILACs, Scielo, PubMed/Medline y Scopus. De un total de 966 publicaciones, se seleccionaron 19 reportes/series de casos y se describen 51 casos (39 niños y 12 adultos), 42 de ellos en ocho países latinoamericanos y con estudios genéticos. La variante m.3243A>G fue la más frecuentemente identificada, con una edad media de 12 ± 9.7 años y un discreto predominio en mujeres. Las manifestaciones neurológicas más frecuentes fueron episodios de stroke like y epilepsia. Las lesiones más frecuentes detectadas por resonancia magnética fueron de tipo isquémico stroke like y calcificación de núcleos de la base.
- Published
- 2022
29. LRRK2: Genetic mechanisms vs genetic subtypes
- Author
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Ignacio Mata, Philippe Salles, Mario Cornejo-Olivas, Paula Saffie, Owen A. Ross, Xylena Reed, and Sara Bandres-Ciga
- Published
- 2023
30. The Peruvian Alzheimer Disease Initiative (PeADI): An international effort model to increase diversity in AD research
- Author
-
Maryenela Illanes‐Manrique, Pedro Ramon Mena, Karina Milla‐Neyra, Larry D. Adams, Koni K. Mejía, Julia Rios‐Pinto, Rosario Isasi, Angel Medina‐Colque, Gary W. Beecham, Ivan Cornejo‐Herrera, Jeffery M. Vance, Edward Ochoa‐Valle, Sheila Castro‐Suarez, Michael L. Cuccaro, Elison Sarapura‐Castro, Mario Cornejo‐Olivas, and Margaret A. Pericak‐Vance
- Subjects
Psychiatry and Mental health ,Cellular and Molecular Neuroscience ,Developmental Neuroscience ,Epidemiology ,Health Policy ,Neurology (clinical) ,Geriatrics and Gerontology - Published
- 2022
31. Admixed ancestral composition with Amerindian predominance at the Peruvian Alzheimer Disease Initiative (PeADI)
- Author
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Diana Cubas‐Montecino, Farid Rajabli, Maryenela Illanes‐Manrique, Nicholas A. Kushch, Pedro Ramon Mena, Patrice L. Whitehead, Kara L. Hamilton‐Nelson, Karina Milla‐Neyra, Victoria Marca, Elison Sarapura‐Castro, Carla Manrique‐Enciso, Koni K. Mejía, Rosario Isasi, Sheila Castro‐Suarez, Ismael Araujo‐Aliaga, Nilton Custodio, Rosa Montesinos, Anthony J. Griswold, Clifton L. Dalgard, Gary W. Beecham, Michael L. Cuccaro, Jeffery M. Vance, Mario Cornejo‐Olivas, and Margaret A. Pericak‐Vance
- Subjects
Psychiatry and Mental health ,Cellular and Molecular Neuroscience ,Developmental Neuroscience ,Epidemiology ,Health Policy ,Neurology (clinical) ,Geriatrics and Gerontology - Published
- 2022
32. Exploring effect of known Alzheimer disease genetic loci in the Peruvian population
- Author
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Mario Cornejo‐Olivas, Farid Rajabli, Nicholas A. Kushch, Pedro Ramon Mena, Maryenela Illanes‐Manrique, Larry D. Adams, Patrice L. Whitehead, Kara L. Hamilton‐Nelson, Karina Milla‐Neyra, Victoria Marca, Elison Sarapura‐Castro, Carla Manrique‐Enciso, Koni K. Mejía, Rosario Isasi, Sheila Castro‐Suarez, Ismael Araujo‐Aliaga, Nilton Custodio, Rosa Montesinos, Anthony J. Griswold, Clifton L. Dalgard, Gary W. Beecham, Michael L. Cuccaro, Jeffery M. Vance, and Margaret A. Pericak‐Vance
- Subjects
Psychiatry and Mental health ,Cellular and Molecular Neuroscience ,Developmental Neuroscience ,Epidemiology ,Health Policy ,Neurology (clinical) ,Geriatrics and Gerontology - Published
- 2022
33. Transcriptomic Analysis of Whole Blood in Admixed Latinx Alzheimer Disease Cohorts
- Author
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Anthony J. Griswold, Tianjie Gu, Derek Van Booven, Patrice L. Whitehead, Kara L. Hamilton‐Nelson, Maricarmen Contreras, Jose Javier Sanchez, Sergio Tejada, Larry D. Adams, Pedro Ramon Mena, William S. Bush, Concepcion Silva‐Vergara, Mario Cornejo‐Olivas, Maryenela Illanes‐Manrique, Michael L. Cuccaro, Jeffery M. Vance, Briseida E. Feliciano‐Astacio, Gary W. Beecham, and Margaret A. Pericak‐Vance
- Subjects
Psychiatry and Mental health ,Cellular and Molecular Neuroscience ,Developmental Neuroscience ,Epidemiology ,Health Policy ,Neurology (clinical) ,Geriatrics and Gerontology - Published
- 2022
34. Analysis of Alzheimer Disease Plasma Biomarker pTau‐181 in Individuals of Diverse Admixed Ancestral Backgrounds
- Author
-
Timo Grimmer, Farid Rajabli, Catherine Garcia‐Serje, Jamie Arvizu, Emma Larkin‐Gero, Patrice L. Whitehead, Kara L. Hamilton‐Nelson, Larry D. Adams, Maricarmen Contreras, Jose Javier Sanchez, Sergio Tejada, Pedro Ramon Mena, Takiyah D. Starks, Mario Cornejo‐Olivas, Maryenela Illanes‐Manrique, Concepcion Silva‐Vergara, Michael L. Cuccaro, Jeffery M. Vance, Briseida E. Feliciano‐Astacio, Goldie S. Byrd, Gary W. Beecham, Jonathan L. Haines, and Margaret A. Pericak‐Vance
- Subjects
Psychiatry and Mental health ,Cellular and Molecular Neuroscience ,Developmental Neuroscience ,Epidemiology ,Health Policy ,Neurology (clinical) ,Geriatrics and Gerontology - Published
- 2022
35. El siguiente paso en educación neurológica en el Perú: Un llamado para la formación de subespecialidades
- Author
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Mario Cornejo-Olivas, Anastasia Vishnevetsky, and Sheila Castro-Suarez
- Subjects
General Agricultural and Biological Sciences - Published
- 2022
36. Machado Joseph-Disease Is Rare in the Peruvian Population
- Author
-
Mario Cornejo-Olivas, Lesly Solis-Ponce, Ismael Araujo-Aliaga, Karina Milla-Neyra, Olimpio Ortega, Maryenela Illanes-Manrique, Pilar Mazzetti, Carla Manrique-Enciso, Diana Cubas-Montecino, Maria Luiza Saraiva-Pereira, Laura B. Jardim, and Elison Sarapura-Castro
- Subjects
Neurology ,Neurology (clinical) - Abstract
Spinocerebellar ataxia type 3 or Machado-Joseph disease (MJD/SCA3) is the most prevalent autosomal dominant cerebellar ataxia worldwide, but its frequency varies by geographic region. We describe MJD/SCA3 patients diagnosed in a tertiary healthcare institution in Peru. In a cohort of 341 individuals (253 probands) with clinical ataxia diagnosis, seven MJD/SCA3 probands were identified and their pedigrees extended, detecting a total of 18 MJD/SCA3 cases. Out of 506 alleles from all probands from this cohort, the 23-CAG repeat was the most common ATXN3 allele (31.8%), followed by the 14-CAG repeat allele (26.1%). Normal alleles ranged from 12 to 38 repeats while pathogenic alleles ranged from 64 to 75 repeats. We identified 80 large normal (LN) alleles (15.8%). Five out of seven families declared an affected family member traced back to foreign countries (England, Japan, China, and Trinidad and Tobago). MJD/SCA3 patients showed ataxia, accompanied by pyramidal signs, dysarthria, and dysphagia as well as abnormal oculomotor movements. In conclusion, ATXN3 allelic distribution in non-MJD/SCA3 patients with ataxia is similar to the distribution in normal individuals around the world, whereas LN allele frequency reinforces no correlation with the frequency of MJD/SCA3. Evidence of any atypical MJD/SCA3 phenotype was not found. Furthermore, haplotypes are required to confirm the foreign origin of MJD/SCA3 in the Peruvian population.
- Published
- 2022
37. Spinocerebellar Ataxia type 3 is rare in the Peruvian Population
- Author
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Mario Cornejo-Olivas, Lesly Solis-Ponce, Ismael Araujo-Aliaga, Karina Milla-Neyra, Olimpio Ortega, Maryenela Illanes-Manrique, Pilar Mazzetti, Carla Manrique-Enciso, Diana Cubas-Montecino, Maria Luiza Saraiva-Pereira, Laura B. Jardim, and Elison Sarapura-Castro
- Abstract
Spinocerebellar ataxia type 3 or Machado-Joseph Disease (MJD/SCA3) is the most prevalent autosomal dominant cerebellar ataxia worldwide, but its frequency varies by geographic region. We describe MJD/SCA3 patients diagnosed in a tertiary healthcare institution in Peru. In a cohort of 341 individuals with clinical ataxia diagnosis, seven MJD/SCA3 probands were identified and their pedigrees extended, detecting a total of 18(5%) MJD/SCA3 cases. Out of 682 alleles from this cohort, the 23-CAG repeat was the most common ATXN3allele (32.1%), followed by the 14-CAG repeat allele (26%). Normal alleles ranged from 12 to 38 repeats while pathogenic alleles ranged from 61-75 repeats. We identified 101 large normal (LN) alleles (14.8%). Five out of seven families declared an affected family member traced back to foreign countries (England, Japan, China, and Trinidad and Tobago). MJD/SCA3 patients showed ataxia, accompanied by pyramidal signs, dysarthria and dysphagia as well as abnormal oculomotor movements. In conclusion, ATXN3 allelic distribution in non-MJD/SCA3 patients with ataxia is similar to the distribution in normal individuals around the world, whereas LN allele frequency reinforces no correlation with the frequency of MJD/SCA3. Evidence of an abnormal MJD/SCA3 phenotype was not found. Further haplotypes are required to confirm the foreign origin of MJD/SCA3 in the Peruvian population.
- Published
- 2022
38. An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean
- Author
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David José Dávila-Ortiz de Montellano, Leo Coutinho, Laura Bannach Jardim, Mario Cornejo-Olivas, Jonathan J. Magaña, and Paula Saffie
- Subjects
Neurology ,Neurology (clinical) - Published
- 2022
39. An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean
- Author
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Laura Bannach, Jardim, Ali, Hasan, Sheng-Han, Kuo, Jonathan Javier, Magaña, Marcondes, França, Wilson, Marques, Claudia, Camejo, Luiz Carlos, Santana-da-Silva, Emília Embiruçu, Leão, Gisele, Espíndola, Francisca, Canals, Marcelo, Miranda, Igor, Salvatierra, Mario, Cornejo-Olivas, Juan, Fernandez-Ruiz, Pedro, Braga-Neto, David José, Dávila-Ortiz de Montellano, Luis Leonardo, Flores-Lagunes, Nicolas, Dupré, Bernard, Brais, Fernando Regla, Vargas, Clécio, Godeiro, Léo, Coutinho, Helio G, Teive, Marcelo, Kaufmann, Paula, Saffie, Gabriel Vasata, Furtado, Maria Luiza, Saraiva-Pereira, Orlando, Barsottini, José Luiz, Pedroso, Roberto, Rodríguez-Labrada, Luis, Velázquez-Pérez, and Christopher, Gomez
- Abstract
Little is known about access of rare disease carriers to health care. To increase this knowledge, the Pan American Hereditary Ataxia Network (PAHAN) conducted an exploratory survey about care for hereditary ataxias in American continents and the Caribbean. A questionnaire was sent to health professionals about the hereditary ataxias identified; access to care; and local teaching and research. The number of ataxics under current care per 100,000 inhabitants was subtracted from the expected overall prevalence of 6/100,000, to estimate the prevalence of uncovered ataxic patients. Local Human Development Indexes (HDI) were used to measure socio-economic factors. Twenty-six sites participated. Twelve sites had very high, 13 had high, and one site had medium HDI. Participants reported on 2239 and 602 patients with spinocerebellar ataxias and recessive forms under current care. The number of patients under current care per inhabitants varied between 0.14 and 12/100,000. The estimated prevalence of uncovered ataxic patients was inversely proportional to HDIs (rho = 0.665, p = 0.003). Access to diagnosis, pre-symptomatic tests, and rehabilitation were associated with HDIs. More and better molecular diagnostic tools, protocols and guidelines, and professional training for ataxia care were the top priorities common to all respondents. Evidence of inequalities was confirmed. Lower HDIs were associated with high potential numbers of uncovered ataxic subjects, and with lack of molecular diagnosis, pre-symptomatic testing, and rehabilitation. More and better diagnostic tools, guidelines, and professional training were priorities to all sites. PAHAN consortium might help with the last two tasks.
- Published
- 2022
40. Asesoramiento genético a una portadora asintomática de DMD: Primer caso reportado en el Sistema de Salud Pública del Perú
- Author
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Victoria Marca, Francia Huaman-Dianderas, Ricardo Fujita, Maria Luisa Guevara-Fujita, Maryenela Illanes-Manrique, Miguel Inca-Martinez, Mario Cornejo-Olivas, and Jeny Bazalar-Montoya
- Subjects
medicine.medical_specialty ,business.industry ,Duchenne muscular dystrophy ,Genetic counseling ,media_common.quotation_subject ,Disease ,medicine.disease ,Family planning ,Family medicine ,medicine ,Pilot program ,Family history ,Inheritance ,General Agricultural and Biological Sciences ,business ,Asymptomatic carrier ,media_common - Abstract
La distrofia muscular de Duchenne (DMD) es una distrofinopatía rápidamente progresiva con herencia ligada al cromosoma X. Este reporte describe el caso de una mujer con historia familiar de hermano y sobrinos con DMD, que acudió a consulta para orientación e información sobre riesgos inherentes a una eventual planificación familiar. Le propusimos participar en un programa piloto de asesoramiento genético para determinar su estado de portador o no de la variante causal de DMD en la familia. Esta primera experiencia ilustra la importancia de tener un programa de asesoramiento genético para el diagnóstico de portadores asintomáticos de enfermedades neurogenéticas en regiones con bajos recursos. Se incluyen reflexiones y comentarios sobre aspectos positivos y retos presentados durante el proceso, las políticas de apoyo presente y futuro para el afronte de los complejos problemas planteados por éste y similares diagnósticos.
- Published
- 2021
41. Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family
- Author
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Elison Sarapura-Castro, Mariela Torres-Loarte, Richard S. Rodriguez, Mario Cornejo-Olivas, Andrea Rivera-Valdivia, Yasser Sullcahuaman-Allende, and Jeny Bazalar-Montoya
- Subjects
Mutation ,Movement disorders ,business.industry ,Cancer ,Disease ,Compound heterozygosity ,medicine.disease ,medicine.disease_cause ,Breast cancer ,Ataxia-telangiectasia ,Genetics ,Cancer research ,Medicine ,medicine.symptom ,business ,Genetics (clinical) ,Immunodeficiency - Abstract
Pathogenic and likely pathogenic variants in the ATM gene are associated both with Ataxia-telangiectasia disease or ATM syndrome and an increased cancer risk for heterozygous carriers. We identified a novel compound heterozygous mutation c.3955_3958dup (p.Asp1320delinsValTer) and c.5825C>T (p.Ala1942Val) in the ATM gene in a Peruvian patient with progressive ataxia combined with other movement disorders, mild conjunctival telangiectasia and increased alpha-fetoprotein, without history of recurrent infection or immunodeficiency. We also determined the carrier status of the family members, and we were able to detect gastric and breast cancer at an early stage during the cancer risk assessment in the mother (c.3955_3958dup). Here, we describe clinical evidence for the novel compound heterozygous mutation and c.3955_3958dup not previously reported.
- Published
- 2021
42. Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
- Author
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Maria Thereza D. Gama, Pedro Braga‐Neto, Deborah M. Rangel, Clécio Godeiro, Rodrigo Alencar, Emília K. Embiruçu, Mario Cornejo‐Olivas, Elison Sarapura‐Castro, Paula Saffie Awad, Daniela Muñoz Chesta, Marcelo Kauffman, Sergio Rodriguez‐Quiroga, Laura B. Jardim, Felipe F. da Graça, Marcondes C. França, Pedro J. Tomaselli, Wilson Marques, Helio A.G. Teive, Orlando G.P. Barsottini, José Luiz Pedroso, and Matthis Synofzik
- Subjects
Multicenter Study ,congenital, hereditary, and neonatal diseases and abnormalities ,Letter ,Neurology ,Cerebellar Ataxia ,genetics [Cerebellar Ataxia] ,Autosomal Recessive Cerebellar Ataxias ,Mutation ,Humans ,Genes, Recessive ,Neurology (clinical) ,ddc:610 ,South America - Abstract
Autosomal recessive cerebellar ataxias (ARCAs) comprisecomplex genetic ataxia disorders with variable central andperipheral nervous system involvement and systemic changes.They can overlap with other conditions such as hereditary spas-tic paraplegia, inborn errors of metabolism, and genetic enceph-alopathies.1While usually starting in childhood or youngadulthood, late adult-onset may occur. The advanced applica-tion of next-generation sequencing has allowed the moleculardefinition of many previously undetermined ARCAs in the lastdecade, including many new ARCA genes.
- Published
- 2022
43. Polygenic risk prediction and SNCA haplotype analysis in a Latino Parkinson’s disease cohort
- Author
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Ignacio F. Mata, Artur F. Schumacher-Schuh, Carlos Velez-Pardo, Gonzalo Arboleda, Emily Mason, Andrea R. V. R. Horimoto, Elif Irem Sarihan, Bruno Lopes Santos-Lobato, Carlos Roberto de Mello Rieder, Dora Yearout, Angel C. Medina, Elison Sarapura-Castro, Pedro Chana-Cuevas, Andrea Rivera-Valdivia, Carlos Cosentino, Timothy D. O’Connor, Sonia Moreno, Víctor Raggio, Cyrus P. Zabetian, Timothy A. Thornton, Vitor Tumas, Mario Cornejo-Olivas, Marlene Jimenez-Del-Rio, Miguel Inca-Martinez, Vanderci Borges, Pilar Mazzetti, Carlos E. Arboleda-Bustos, Douglas Loesch, Francisco Lopera, Luis Torres, Humberto Arboleda, Henrique Ballalai Ferraz, Elena Dieguez, William Fernandez, and Andres G. Lescano
- Subjects
Oncology ,medicine.medical_specialty ,business.industry ,Haplotype ,Locus (genetics) ,Genome-wide association study ,Disease ,Logistic regression ,Internal medicine ,Cohort ,Medicine ,1000 Genomes Project ,business ,Genetic association - Abstract
BackgroundLarge-scale Parkinson’s disease (PD) genome-wide association studies (GWAS) and meta-analyses have, until recently, only been conducted on subjects with European-ancestry. Consequently, polygenic risk scores (PRS) constructed using PD GWAS data are likely to be less predictive when applied to non-European cohorts.MethodsUsing GWAS data from Nalls et al. 2019, we constructed a PD PRS for a Latino PD cohort (LARGE-PD) and tested it for association with PD status. We validated the PRS performance through testing the PD PRS in an independent cohort of Latino PD patients and by repeating the PRS analysis in LARGE-PD with the addition of 440 external Peruvian controls. To explore the global distribution of PD PRS, we utilized 1000 Genomes Project (1KGP) and Peruvian Genome Project (PGP) data to estimate PD risk allele frequencies. We also tested SNCA haplotypes for association with PD risk using logistic regression in LARGE-PD and a European-ancestry PD cohort from the International Parkinson Disease Genomics Consortium (IPDGC).ResultsThe GWAS-significant PD PRS had an area under the receiver-operator curve (AUC) of 0.668 (95% CI: 0.640-0.695) and explained 2.2% of the phenotypic variance on the liability scale in LARGE-PD. The inclusion of external Peruvian data as controls mitigated this result, dropping the AUC 0.632 (95% CI: 0.607-0.657). In 1KGP Latinos, we found the PD PRS to exhibit a bias by ancestry. At the SNCA locus, haplotypes differ by ancestry. Ancestry-specific SNCA haplotypes were associated with PD status in both LARGE-PD and the IPDGC cohort (p-value < 0.05). Apart from rs356182, these haplotypes share as little as 14% of their variants.ConclusionThe PD PRS has potential for PD risk prediction in Latinos, but variability caused by admixture patterns and bias in the PD PRS calculated using only European-ancestry data limits its utility. The inclusion of diverse subjects can help elucidate PD risk loci and improve risk prediction in non-European cohorts. In the case of the SNCA locus, by leveraging a Latino cohort, we provide orthogonal evidence for rs356182 causality.
- Published
- 2021
44. F04 Linear mixed model for the age of onset prediction in huntington disease from a peruvian cohort
- Author
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Diana Cubas-Montecino, Pilar Mazzetti, Diego Véliz-Otani, and Mario Cornejo-Olivas
- Subjects
Mixed model ,business.industry ,Sample size determination ,Linear regression ,Cohort ,Medicine ,Neurogenetics ,Heritability ,Age of onset ,business ,Explained variation ,Demography - Abstract
Background Based on heritability analyses, unidentified genetic modifiers explain up to 38% of the remaining genetic variance after accounting for the CAG repeat number. We hypothesized that pedigree information can harness unknown genetic modifiers to increase the accuracy of age of onset prediction Aims To assess whether pedigree information can increase the accuracy of age of onset predictive models. Methods We included 139 unrelated subjects and 81 related individuals from 33 families (total n=220) from the HD registry of the Neurogenetics Research Center at the Instituto Nacional de Ciencias Neurologicas, Lima, Peru. We fit a mixed linear model (MLM) of the age of onset with CAG repeat number, age, and sex as covariates. Polygenic additive effects were modeled by a matrix of kinship coefficients. Next, we measure the prediction accuracy by the Variance Explained based on Leve-one-out cross-validation (VEcv). The prediction accuracy was separately measured for test subjects with relatives in the training set and for subjects without relatives in the training set. The training sample size was kept constant for both groups. As a reference, we also fit a linear regression including only unrelated subjects (n=172), and repeated the MLM matching the sample size (81 subjects from 33 families + 91 unrelated subjects). Results The MLM (n=172) for subjects with relatives in the training set had a greater accuracy (VEcv=63%) than subjects without relatives (VEcv=56%). The linear regression of unrelated subjects (n=172) had a lower accuracy (VEcv=53%) than the MLM with matched sample size (n=172, VEcv=63%). Conclusion Including pedigree information in age of onset predictive models increases their accuracy.
- Published
- 2021
45. Characterizing the Genetic Architecture of Parkinson's Disease in Latinos
- Author
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Carlos E. Arboleda-Bustos, Douglas Loesch, Paul Cannon, Francisco Lopera, Carlos Cosentino, Andrea Rivera-Valdivia, Carlos Velez-Pardo, Cyrus P. Zabetian, Mario Cornejo-Olivas, Ignacio F. Mata, Sonia Moreno, Karl Heilbron, Carlos Roberto de Mello Rieder, Miguel Inca-Martinez, Andrea R. V. R. Horimoto, Pilar Mazzetti, Luis Torres, Vanderci Borges, Dora Yearout, Elison Sarapura-Castro, Gonzalo Arboleda, Timothy D. O’Connor, Artur F. Schumacher-Schuh, Elif Irem Sarihan, Bruno Lopes Santos-Lobato, Vitor Tumas, Marlene Jimenez-Del-Rio, Pedro Chana-Cuevas, William Fernandez, Emily Mason, Andres G. Lescano, Humberto Arboleda, Elena Dieguez, Henrique Ballalai Ferraz, Angel C. Medina, Timothy A. Thornton, and Víctor Raggio
- Subjects
Adult ,Male ,Genetic admixture ,Genome-wide association study ,Locus (genetics) ,Disease ,Biology ,Polymorphism, Single Nucleotide ,Article ,Cohort Studies ,Humans ,Genetic Predisposition to Disease ,Latinos ,Allele ,Aged ,Genetics ,Parkinson's Disease ,Genetic Variation ,Parkinson Disease ,Hispanic or Latino ,Middle Aged ,South America ,Genetic architecture ,Neurology ,Genetic Loci ,Cohort ,Etiology ,Female ,Neurology (clinical) ,Genetic Architecture ,Genome-Wide Association Study - Abstract
OBJECTIVE This work was undertaken in order to identify Parkinson's disease (PD) risk variants in a Latino cohort, to describe the overlap in the genetic architecture of PD in Latinos compared to European-ancestry subjects, and to increase the diversity in PD genome-wide association (GWAS) data. METHODS We genotyped and imputed 1,497 PD cases and controls recruited from nine clinical sites across South America. We performed a GWAS using logistic mixed models; variants with a p-value
- Published
- 2021
46. Guías de práctica clínica basadas en evidencia: Desarrollo y aplicación en neurología clínica en el Perú
- Author
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Carlos Alva-Diaz, Nilton Custodio Capuñay, and Mario Cornejo-Olivas
- Subjects
General Agricultural and Biological Sciences - Published
- 2019
47. ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population
- Author
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Olimpio Ortega, Maria Luiza Saraiva-Pereira, Pilar Mazzetti, Laura Bannach Jardim, Mario Cornejo-Olivas, Diego Véliz-Otani, Giovana Bavia Bampi, and Miguel Inca-Martinez
- Subjects
Latin Americans ,purl.org/pe-repo/ocde/ford#3.02.25 [https] ,Population ,Distribution (economics) ,Biology ,Ataxin-10 ,050105 experimental psychology ,03 medical and health sciences ,Amerindian ,0302 clinical medicine ,Japan ,Peru ,parasitic diseases ,medicine ,Humans ,Spinocerebellar Ataxias ,0501 psychology and cognitive sciences ,ATXN10 ,Allele ,education ,Mexico ,Alleles ,Spinocerebellar ataxia type 10 ,education.field_of_study ,Large normal allele ,DNA Repeat Expansion ,business.industry ,Quechua ,05 social sciences ,medicine.disease ,Europe ,White (mutation) ,Neurology ,Population Surveillance ,Spinocerebellar ataxia ,Microsatellite ,Neurology (clinical) ,business ,Trinucleotide repeat expansion ,030217 neurology & neurosurgery ,Microsatellite Repeats ,Demography - Abstract
Spinocerebellar ataxia type 10 (SCA10) is a repeat expansion disease occurring mostly in Latin America, suggesting that the mutation spread with the peopling of the Americas, or that Amerindian populations, have a higher ATXN10 mutability. High frequency of large normal alleles is associated with prevalence and relative frequency of other repeat expansion diseases. To test whether the allele distribution of the SCA10-causing ATXN10 microsatellite in an Amerindian Peruvian population differs from that of other populations. The ATXN10 allele distribution in a Quechua Peruvian population from Puno, Peru, is similar to that of Finland. Mean allele size and mode were also similar to those of Mexico, Japan, and white Europeans. ATXN10 allele distribution in a healthy Amerindian population from Peru does not differ from that of other populations.
- Published
- 2019
48. Palliative Care: Perceptions, Experiences, and Attitudes in a Peruvian Neurologic Hospital
- Author
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Juan Luis Cam, Anastasia Vishnevetsky, Claire J. Creutzfeldt, Carla Zapata del Mar, and Mario Cornejo-Olivas
- Subjects
Male ,Latin Americans ,Palliative care ,Attitude of Health Personnel ,media_common.quotation_subject ,Truth Disclosure ,Interviews as Topic ,03 medical and health sciences ,0302 clinical medicine ,Nursing ,030502 gerontology ,Perception ,Peru ,Humans ,Medicine ,General Nursing ,media_common ,Physician-Patient Relations ,business.industry ,Communication ,Palliative Care ,Original Articles ,General Medicine ,Middle Aged ,Transparency (behavior) ,Anesthesiology and Pain Medicine ,030220 oncology & carcinogenesis ,Female ,Nervous System Diseases ,Advance Directives ,Nurse-Patient Relations ,0305 other medical science ,business ,Attitude to Health - Abstract
Background: The development of palliative care in Peru remains limited, particularly for nononcological services, such as neurology. The goal of this study was to explore attitudes toward and knowledge about palliative and end-of-life care among patients, families, nurses, and doctors in a specialized neurological institute in Lima, Peru. Materials and Methods: We used a mixed methods approach consisting of 78 surveys and 21 qualitative, semistructured interviews that were recorded, transcribed, and analyzed using thematic analysis. Results: Surveys identified a substantial need for palliative care in the neurological institute (63% of doctors and 77% of nurses reported palliative care needs in >30% of their patients), and for training (82% of doctors and 69% of nurses reported inadequate palliative care education). The key themes emerging from qualitative interviews concerned transparency of communication about prognosis and end-of-life choices in neurological disease. Familiarity with advance directives was limited among both clinicians and families, and participants were divided about whether or not patients should be informed of serious diagnoses and prognoses, and who should inform them. Barriers to transparency in patient–physician communication included (1) expectation of cure; (2) physician's lack of training in communication and end-of-life care; (3) a paternalistic culture; and (4) the nature of neurological diseases. Conclusions: Our study highlights opportunities to enhance palliative care and communication education for neurology providers and the public in Peru, a country that currently has no palliative care training program and no legal basis for advance directives.
- Published
- 2019
49. Genetics and genomics in Peru: Clinical and research perspective
- Author
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Milagros M. Dueñas-Roque, Eduardo Acevedo-Vásquez, Cesar Sanchez, Hugo Abarca-Barriga, Alejandro Piscoya, Luis Jaramillo-Valverde, Pilar Mazzetti, Julio A. Poterico, Gioconda Manassero-Morales, Manuel F. Ugarte-Gil, Yasser Sullcahuaman-Allende, Ricardo Fujita, Kelly S. Levano, Heinner Guio, Mario Cornejo-Olivas, Juan Manuel Iglesias-Pedraz, and Sandro Casavilca-Zambrano
- Subjects
0301 basic medicine ,Genetics, Medical ,Genomics ,Genética humana ,genomic ,Translational Research, Biomedical ,Perú ,03 medical and health sciences ,0302 clinical medicine ,parasitic diseases ,Peru ,Genetics ,Humans ,Genetic Testing ,Molecular Biology ,Genoma ,Genetics (clinical) ,Field (Bourdieu) ,Perspective (graphical) ,Genetics and Genomic Medicine around the World ,030104 developmental biology ,Geography ,Human evolution ,Genomic ,genetic ,030217 neurology & neurosurgery ,geographic locations ,Facilities and Services Utilization - Abstract
Peru is a pluricultural and ethnically diverse country located in middle west of South America. It is the fourth largest country (1,285,216 km2) in area in South America, bordered in the north by Ecuador and Colombia, in the south by Chile, south east by Bolivia, by Brazil in the east and by the Pacific Ocean in the west. Peru has one of the most diverse climates, geographical and ecological in the world, from tropical or subtropical dessert to glacial in highland mountains to Amazon jungle. Peru is divided into 24 geopolitical regions with a central government. According to last national census in 2017, Peruvian populations accounts for 31,237,385 inhabitants (Instituto Nacional de Estadistica e Informatica [INEI], 2017). Most of Peru's population lives in the Coastal area, with almost one third of the nation's population living in Lima, the largest city with approximately 11 million people. Rural and urban population has changed over the last 50 years due to migration waves in the 1950s from rural to urban sites mainly located in the coast causing decrease or disappearance of native communities. Revisado por pares
- Published
- 2018
50. Response to ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population
- Author
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Tetsuo Ashizawa, Diego Véliz-Otani, Diana Cubas-Montecino, Maria Luiza Saraiva-Pereira, Mario Cornejo-Olivas, Laura Bannach Jardim, and Karina Milla-Neyra
- Subjects
Microsatellite Distribution ,purl.org/pe-repo/ocde/ford#3.02.25 [https] ,business.industry ,Amerindian population ,education ,Distribution (economics) ,Ataxin-10 ,Peruvian Amerindian Population ,White People ,Geography ,Neurology ,Evolutionary biology ,Peru ,Microsatellite ,Humans ,Neurology (clinical) ,ATXN10 ,business ,health care economics and organizations ,Microsatellite Repeats - Abstract
We are grateful to Diego Sevilla, Victoria Marca, and Olimpio Ortega for lab assistance and logistic support. Research reported in this publication was supported by the Fogarty International Center (FIC) of the National Institutes of Health and the National Institute of Neurological Disorders and Stroke (NINDS) under grant #D43TW009345 awarded to the Northern Pacific Global Health Fellows Program and grant #D43TW009137 awarded to the Interdisciplinary Cerebrovascular Diseases Training Program in South America. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health
- Published
- 2021
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