Now showing items 1-20 of 36

    • A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America 

      Pesaola, Favio; Sismondi, Inés Adriana; Guelbert, Norberto; Kohan, Romina; Carabelos, Noelia; Alonso, Graciela; Pons, Patricia; Oller Ramírez, Ana María; Noher de Halac, Rita Inés (2013)
      Neuronal ceroid lipofuscinosis (NCL), inheritedneurodegenerative diseases of all ages, presents with storage oflipofuscin-like lipopigments in cerebral neurons and peripheraltissues. Mutations in CLN8 gene causing epilepsy ...
    • A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America 

      Pesaola, Favio; Cismondi, Inés Adriana; Guelbert, Norberto; Kohan, Romina; Carabelos, María Noelia; Alonso, Graciela; Pons, Patricia; Noher de Halac, Rita Inés; Oller Ramírez, Ana María (2013)
      Introduction: Neuronal ceroid lipofuscinosis (NCL), inherited neurodegenerative diseases of all ages, presents with storage of lipofuscin-like lipopigments in cerebral neurons and peripheral tissues. Mutations in CLN8 ...
    • Application of concept mapping for histology and system immune learning 

      Novak, Ivón; Yadarola, María Eugenia (American Society for Cell Biology (ASCB), American Society for Cell Biology (ASCB), 2013)
      The main objective of this work in University Teaching, National Technological University, Cordoba Regional Faculty, Argentina, was to characterize the implementation of the strategy of concept mapping for learning Histology ...
    • Body mass index and sperm quality: effects of overweight and underweight 

      Martini, Ana; Tissera, Andrea; Vincenti, Laura; Beltramone, Fernando; Sad, José; Ruíz, Rubén; Fiol de Cuneo, Marta; Molina, Rosa (IVIRMA Global, IVIRMA Global, 2013)
      We previously reported a negative association between body mass index (BMI) and sperm motility and seminal alpha-glucosidase concentrations (NAG), suggesting that epididymis may be a target organ for weight-linked alterations. ...
    • Bone Diseases as the only clinical manifestation of gaucher disease type 

      Guelbert, Norberto; Robledo, Hugo; Becerra, Walter; Angaroni, Celia; Giner Ayala, Alicia; Ramírez Oller, Ana María; Dodelson Kremmer, Raquel (Sociedad Latinoamericana de Errores Innatos del Metabolismo y Pesquisa Neonatal, 2013)
      Gaucher disease (GD) is a lysosomal disease, due to the deficiency of Iˆ2-glucosidase, characterized by invol vement of hematopoietic organs such as the spleen, liver, bone marrow, lung, and bone. Bone is the second most ...
    • Brachiocephalic trunk anomalies and variations 

      Biasutto, Susana Norma; Cecenarro, Rodolfo Raúl; Álvarez, María Laura; De la Rosa, Matías; Bortolin, Paulina Alejandra; Ceccon, Gabriel (Revista Argentina de Anatomía Clínica, 2013-05-24)
      Knowledge of anatomical anomalies and variations on the brachiocephalic trunk (BCT) are important in medical practice, mainly for the interpretation of diagnostic images, in surgical procedures of thorax and neck, and may ...
    • Cochlear implant in far advanced otosclerosis. Performance complications-long term results 

      Curet, Carlos Augusto; Ruíz, Héctor; Salvadores, María Inés; Romani, Claudia; Dotto, Gabriela; Queirolo, Adriana; Chailé, Iván David; Robledo, Hugo; Muiño, Juan Carlos (Grupo Iberoamericano de Implantes Cocleares y Ciencias afines (GICCA), 2013-04)
      Patients with far advanced otosclerosis demonstrated good performance with CI in 26/32 cases. In the cases with otosclerosis type 3, 5/6 patients had more difficulty in the insertion of electrodes, 1 of them with 2 electrodes ...
    • Combined effects of obesity, alcohol and smoking habit on semen quality of 2483 men attending an andrology clinic 

      Martini, Ana; Tissera, Andrea; Vincenti, Laura; Estofán, Daniel; Beltramone, Fernando; Sad, José; Ruíz, Rubén; Fiol de Cuneo, Marta; Molina, Rosa (IVIRMA Global, IVIRMA Global, 2013)
      Several factors have been identified as detrimental for sperm physiology (i.e. tobacco, alcohol, obesity, endocrine disruptors, etc); however, none of them can justify seminal decline by itself. Therefore, the objective ...
    • Creatine metabolism and hyperammonemia in argentinian patients with ornithine transcarbamilase deficiency 

      Martínez, Lidia; Bezard, Miriam; Silvera Ruiz, Silene; Dodelson de Kremer, Raquel; Larovere, Laura (2013)
      Introduction: Creatine (Cr) biosynthesis requires 2 enzymes, arginine–glycine amidinotransferase and guanidinoacetate methyltransferase, and it can be taken up by cells using transporters. Recent studies demonstrated the ...
    • Detection of human papillomavirus (HPV) in oral cavity lesions: comparison with other risk factors 

      Venezuela, Raúl Fernando; Talavera, Ángel; Frutos, María Celia; Kiguen, Ana Ximena; Monetti, Marina; Sollazo, María; Ferreyra, Ruth; Cuffini, Cecilia (2013)
      Human papillomavirus (HPV) is considered the causative agent of cervix cancer; however, its relationship with oral cancer is controversial. Objectives: To detect the presence of HPV genotypes in lesions of the oral cavity ...
    • Dietary patterns in adult population from Argentina 

      Elorriaga, Natalia; Defagó, María Daniela; Desimone, H.; Gutiérrez, Laura; Poggio, Rosana; Irazola, Vilma (International Union of Nutritional Sciences, International Union of Nutritional Sciences, 2013)
      Background and objectives: Dietary patterns (DP) have been used to identify different combinations of foods that may be associated with mortality and risk of chronic disease. The objective of this study was to identify ...
    • Distribution of genetic polymorphisms associated to hepatitis c virus (HCV) antiviral response in a multiethnic and admixed population 

      Thinks, Julieta; Caputo, Mariela; Hulaniuk, María Laura; Burgos Pratx, Leandro; Ré, Viviana; Fortuny, Lisandro; Frías, Analía; Torres, Oscar; Nuñez, Félix; Gadano, Adrián; Corach, Daniel; Flichman, Diego Martin (2013-09)
      Single-nucleotide polymorphisms (SNPs) near IL28B and ITPA genes have been described as predictors of response to antiviral treatment and ribavirin induced-hemolytic anemia in HCV patients, respectively. The prevalence of ...
    • Downregulation of GLI1- dependent survival pathway underlies arachidonic acid antitumoral activity 

      Comba, Andrea; Pasqualini, María Eugenia; Vara Mesler, Mariana; Silva, Renata Alejandra; García Fernandez Barrera, M; Fernández Zapico, Martín; Eynard, Aldo (Argentine Society for biochemistry and molecular biology research, 2013)
      Numerous studies have demonstrated a role for essential fatty acids (ePUFAs) during tumor evelopment. However, the molecularmechanism underlying this phenomenon remains elusive. Here, we defined a novel molecular mechanism ...
    • Effects of the L-arginine supplementation in the fetal development alterations in a congenital chagas disease mouse model 

      Díaz Luján, Cintia; Piegari, Mariana; Glocker, Mónica; Triquell, María Fernanda; Mezzano, Luciana; Fretes, Ricardo Emilio (2013)
      A nutritional protein deficit would induce modifications in fetal development, parasitemia and congenital Chagas transmission, while arginine intake would improve this situation. Female mice (C3H strain) were feeded with ...
    • Effects Of The L-Arginine Supplementation In The Fetal Development Alterations In A Congenital Chagas Disease Mouse Model 

      Díaz Luján, Cintia; Piegari, Mariana; Glocker, Mónica; Triquell, María Fernanda; Mezzano, Luciana; Fretes, Ricardo (Universidad Nacional de Córdoba. Facultad de Ciencias Médicas, 2013)
      A nutritional protein deficit would induce modifications in fetal development, parasitemia and congenital Chagas transmission, while arginine suministration would improve this situation. Female mice (C3H strain) were fed ...
    • Effects of ω-3 PUFA-enriched diet on growth parameters in a syngenic murine model of breast adenocarcinoma: a possible role for estrogen receptor alpha 

      Vara Messler, Marianela; Pasqualini, María Eugenia; Comba, Andrea; Toniolo, Alicia; Trenti, Annalisa; Quiroga, Patricia; Valentich, Mirta Ana; Bolego, Chiara (2013)
      Background: Breast cancer (BC) is the most common tumour among women and 75% of BC are estrogen receptor (ER)dependent. In particular, ERα promotes tumour growth, while ERβ has an anti-proliferative effect [1]. Epidemiological ...
    • Genetic defects in the liver phosphorylase system in Argentine patients nosological definition through a strategy of enzimatic and molecular analysis 

      Agaroni, Celia Juana; Giner Ayala, Alicia; Castillo, Angéles; Paschini Capra, Agustín; Dodelson de Kremer, Raquel; Lanza, Victoria (Universidad Nacional de Córdoba. Facultad de Ciencias Médicas., 2013)
      The phosphorylase and phosphorylase-b kinase (PHK) deficiencies in the liver constitute the phosphorylase system defects (PSD), leading to Glycogenosis Type VI (GSD-VI) and Type IX (GSD-IX), respectively. The hepatic ...
    • Human Papillomavirus: analisis of knowledge among general population 

      Venezuela, Raúl Fernando; Monetti, Marina; Frutos, María Cecilia; Kiguen, Ana Ximena; Mosmann, José Manuel; Ferrari, Juan Carlos; Kremer, Luis; Molina, Rosa; Bolatti, Héctor; Aguilar, Javier; Paván, Jorge; Alonso, Carlos; Wolfenson, Alberto; Amusategui, Claudia; Cuffini, Cecilia (Universidad Nacional de Córdoba. Facultad de Ciencias Médicas., 2013)
      La mayoría de los estudios de VPH, se orientan a la etiología y la historia de la infección, sin embargo, pocos trabajos evalúan el conocimiento de la población. Objetivo: analizar el conocimiento poblacional, sobre el ...
    • Implications of oxidative stress and placental structural alterations in Trypanosoma cruzi infection in vitro and ex vivo 

      Araya, Ornella; Triquell, María Fernanda; Díaz Luján, Cintia; Mezzano, Luciana; Piegari, Mariana; Fretes, Ricardo Emilio (V Latin American Symposium on Maternal Fetal Interaction & Placenta, 2013)
      Human placenta participates in the control of Chagas congenital infection, which could be due by nitric oxide synthase (NOS) and peroxinitrites which are deleterious for Trypanosoma cruzi and placental tissue. We proposed ...
    • Inhibitory effect of n3 polyunsaturated fatty acids on cancer cell growth by p53 activation 

      Garay, María Isabel; Comba, Andrea; Vara Mesler, Marianela; Silva, Renata Alejandra; Quiroga, Patricia; Pasqualini, María Eugenia (Argentine Society for biochemistry and molecular biology research, 2013)
      Different evidences show the regulatory effect of n-3 and n-6 polyunsaturated fatty acids (PUFAs) on carcinogenesis, however how PUFAS modulate tumor development remains unknown. In this report, we analyzed the in vitro ...