<?xml version="1.0" encoding="UTF-8"?>
<feed xmlns="http://www.w3.org/2005/Atom" xmlns:dc="http://purl.org/dc/elements/1.1/">
  <title>DSpace Community: UEFES</title>
  <link rel="alternate" href="http://sgc.anlis.gob.ar/handle/123456789/2370" />
  <subtitle>UEFES</subtitle>
  <id>http://sgc.anlis.gob.ar/handle/123456789/2370</id>
  <updated>2026-04-20T20:06:27Z</updated>
  <dc:date>2026-04-20T20:06:27Z</dc:date>
  <entry>
    <title>Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry</title>
    <link rel="alternate" href="http://sgc.anlis.gob.ar/handle/123456789/2420" />
    <author>
      <name>Cornejo-Olivas, Mario</name>
    </author>
    <author>
      <name>Torres, Luis</name>
    </author>
    <author>
      <name>Velit-Salazar, Mario R</name>
    </author>
    <author>
      <name>Inca-Martinez, Miguel</name>
    </author>
    <author>
      <name>Mazzetti, Pilar</name>
    </author>
    <author>
      <name>Cosentino, Carlos</name>
    </author>
    <author>
      <name>Micheli, Federico</name>
    </author>
    <author>
      <name>Perandones, Claudia</name>
    </author>
    <author>
      <name>Dieguez, Elena</name>
    </author>
    <author>
      <name>Raggio, Victor</name>
    </author>
    <author>
      <name>Tumas, Vitor</name>
    </author>
    <author>
      <name>Borges, Vanderci</name>
    </author>
    <author>
      <name>Ferraz, Henrique B</name>
    </author>
    <author>
      <name>Rieder, Carlos R M</name>
    </author>
    <author>
      <name>Shumacher-Schuh, Artur</name>
    </author>
    <author>
      <name>Velez-Pardo, Carlos</name>
    </author>
    <author>
      <name>Jimenez-Del-Rio, Marlene</name>
    </author>
    <author>
      <name>Lopera, Francisco</name>
    </author>
    <author>
      <name>Chang-Castello, Jorge</name>
    </author>
    <author>
      <name>Andreé-Munoz, Brennie</name>
    </author>
    <author>
      <name>Waldherr, Sarah</name>
    </author>
    <author>
      <name>Yearout, Dora</name>
    </author>
    <author>
      <name>Zabetian, Cyrus P</name>
    </author>
    <author>
      <name>Mata, Ignacio F</name>
    </author>
    <id>http://sgc.anlis.gob.ar/handle/123456789/2420</id>
    <updated>2021-12-30T17:08:55Z</updated>
    <published>2017-01-01T00:00:00Z</published>
    <summary type="text">Title: Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry
Authors: Cornejo-Olivas, Mario; Torres, Luis; Velit-Salazar, Mario R; Inca-Martinez, Miguel; Mazzetti, Pilar; Cosentino, Carlos; Micheli, Federico; Perandones, Claudia; Dieguez, Elena; Raggio, Victor; Tumas, Vitor; Borges, Vanderci; Ferraz, Henrique B; Rieder, Carlos R M; Shumacher-Schuh, Artur; Velez-Pardo, Carlos; Jimenez-Del-Rio, Marlene; Lopera, Francisco; Chang-Castello, Jorge; Andreé-Munoz, Brennie; Waldherr, Sarah; Yearout, Dora; Zabetian, Cyrus P; Mata, Ignacio F
Abstract: Mutations in Leucine-Rich Repeat Kinase 2 (LRRK2), primarily located in codons G2019 and R1441, represent the most common genetic cause of Parkinson's disease in European-derived populations. However, little is known about the frequency of these mutations in Latin American populations. In addition, a prior study suggested that a LRRK2 polymorphism (p.Q1111H) specific to Latino and Amerindian populations might be a risk factor for Parkinson's disease, but this finding requires replication. We screened 1734 Parkinson's disease patients and 1097 controls enrolled in the Latin American Research Consortium on the Genetics of Parkinson's disease (LARGE-PD), which includes sites in Argentina, Brazil, Colombia, Ecuador, Peru, and Uruguay. Genotypes were determined by TaqMan assay (p.G2019S and p.Q1111H) or by sequencing of exon 31 (p.R1441C/G/H/S). Admixture proportion was determined using a panel of 29 ancestry informative markers. We identified a total of 29 Parkinson's disease patients (1.7%) who carried p.G2019S and the frequency ranged from 0.2% in Peru to 4.2% in Uruguay. Only two Parkinson's disease patients carried p.R1441G and one patient carried p.R1441C. There was no significant difference in the frequency of p.Q1111H in patients (3.8%) compared to controls (3.1%; OR 1.02, p = 0.873). The frequency of LRRK2-p.G2019S varied greatly between different Latin American countries and was directly correlated with the amount of European ancestry observed. p.R1441G is rare in Latin America despite the large genetic contribution made by settlers from Spain, where the mutation is relatively common.
Description: Fil. Cornejo-Olivas, Mario.  Centro de Investigaciones en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú.&#xD;
Consorcio de Capacitación en Investigación en Salud Global del Pacífico Norte, Bethesda, MD, EE. UU; Fil. Torres, Luis. Unidad de Trastornos del Movimiento, Instituto Nacional de Ciencias Neurológicas, Lima, Perú.&#xD;
Universidad Nacional Mayor de San Marcos, Lima, Perú.; Fil. Velit-Salazar, Mario R. Centro de Investigaciones en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú.&#xD;
Universidad Peruana Cayetano Heredia, Lima, Perú.; Fil. Inca-Martínez, Miguel. Centro de Investigaciones en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú.; Fil. Mazzetti, Pilar. Centro de Investigaciones en Neurogenética, Instituto Nacional de Ciencias Neurológicas, Lima, Perú.&#xD;
Universidad Nacional Mayor de San Marcos, Lima, Perú.; Fil. Cosentino, Carlos. Unidad de Trastornos del Movimiento, Instituto Nacional de Ciencias Neurológicas, Lima, Perú.&#xD;
Universidad Nacional Mayor de San Marcos, Lima, Perú.; Fil. Micheli, Federico. Hospital de Clínicas José de San Martín, Universidad de Buenos Aires, Buenos Aires, Argentina.; Fil. Perandones, Claudia. Hospital de Clínicas José de San Martín, Universidad de Buenos Aires, Buenos Aires, Argentina.; Fil. Dieguez, Elena. Instituto de Neurología, Universidad de la República, Montevideo, Uruguay.; Fil. Raggio, Victor. Departamento de Genética, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.; Fil. Tumas, Vitor. Facultad de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brasil.; Fil. Borges, Vanderci. Unidad de Trastornos del Movimiento, Departamento de Neurología y Neurocirugía, Universidade Federal de São Paulo, São Paulo, SP Brasil.; Fil.  B. Ferraz, Henrique. Unidad de Trastornos del Movimiento, Departamento de Neurología y Neurocirugía, Universidade Federal de São Paulo, São Paulo, SP Brasil.; Fil.RM Rieder,.Carlos. Hospital de Clínicas de Porto Alegre, Porto Alegre, Brasil.; Fil. Shumacher-Schuh, Artur. Hospital de Clínicas de Porto Alegre, Porto Alegre, Brasil.; Fil.  Vélez-Pardo, Carlos. Grupo de Investigación en Nerurociencia, Instituto de Investigaciones Médicas, Universidad de Antioquia, Medellín, Colombia.; Fil .Jiménez-Del-Rio, Marlene. Grupo de Investigación en Nerurociencia, Instituto de Investigaciones Médicas, Universidad de Antioquia, Medellín, Colombia.; Fil. Lopera, Francisco. Grupo de Investigación en Nerurociencia, Instituto de Investigaciones Médicas, Universidad de Antioquia, Medellín, Colombia.; Fil. Chang-Castello, Jorge. Departamento de Genética, Facultad de Medicina, Universidad de Guayaquil, Hospital Luis Vernaza, Guayaquil, Ecuador.; Fil. Andreé-Muñoz, Brennie. Servicio de Neurología, Hospital Luis Vernaza, Guayaquil, Ecuador.; Fil. Waldherr, Sarah. Asuntos de Veteranos Puget Sound Health Care System, Universidad de Washington, Seattle, WA, EE. UU.&#xD;
Departamento de Neurología, Universidad de Washington, Seattle, WA, EE. UU.; Fil. Yearout, Dora. Asuntos de Veteranos Puget Sound Health Care System, Universidad de Washington, Seattle, WA, EE. UU.&#xD;
Departamento de Neurología, Universidad de Washington, Seattle, WA, EE. UU.; Fil. P Zabetian, Cyrus. Asuntos de Veteranos Puget Sound Health Care System, Universidad de Washington, Seattle, WA, EE. UU.&#xD;
Departamento de Neurología, Universidad de Washington, Seattle, WA, EE. UU.; Fil. F Mata, Ignacio. Asuntos de Veteranos Puget Sound Health Care System, Universidad de Washington, Seattle, WA, EE. UU.&#xD;
Departamento de Neurología, Universidad de Washington, Seattle, WA, EE. UU.</summary>
    <dc:date>2017-01-01T00:00:00Z</dc:date>
  </entry>
  <entry>
    <title>Huntington disease: Advances in the understanding of its mechanisms</title>
    <link rel="alternate" href="http://sgc.anlis.gob.ar/handle/123456789/2419" />
    <author>
      <name>Gatto, Emilia M</name>
    </author>
    <author>
      <name>Rojas, Natalia González</name>
    </author>
    <author>
      <name>Persi, Gabriel</name>
    </author>
    <author>
      <name>Etcheverry, José Luis</name>
    </author>
    <author>
      <name>Cesarini, Martín Emiliano</name>
    </author>
    <author>
      <name>Perandones, Claudia</name>
    </author>
    <id>http://sgc.anlis.gob.ar/handle/123456789/2419</id>
    <updated>2021-12-27T17:31:53Z</updated>
    <published>2020-01-01T00:00:00Z</published>
    <summary type="text">Title: Huntington disease: Advances in the understanding of its mechanisms
Authors: Gatto, Emilia M; Rojas, Natalia González; Persi, Gabriel; Etcheverry, José Luis; Cesarini, Martín Emiliano; Perandones, Claudia
Abstract: Huntington disease (HD) is a devastating monogenic autosomal dominant disorder. HD is caused by a CAG expansion in exon 1 of the gene coding for huntingtin, placed in the short arm of chromosome 4. Despite its well-defined genetic origin, the molecular and cellular mechanisms underlying the disease are unclear and complex. Here, we review some of the currently known functions of the wild-type huntingtin protein and discuss the deleterious effects that arise from the expansion of the CAG repeats, which are translated into an abnormally long polyglutamine tract. Also, we present a modern view on the molecular biology of HD as a representative of the group of polyglutamine diseases, with an emphasis on conformational changes of mutant huntingtin, disturbances in its cellular processing, and proteolytic stress in degenerating neurons. The main pathogenetic mechanisms of neurodegeneration in HD are discussed in detail, such as autophagy, impaired mitochondrial biogenesis, lysosomal dysfunction, organelle and protein transport, inflammation, oxidative stress, and transcription factor modulation. However, other unraveling mechanisms are still unknown. This practical and brief review summarizes some of the currently known functions of the wild-type huntingtin protein and the recent findings related to the mechanisms involved in HD pathogenesis.
Description: Fil. Gatto, Emilia M. Instituto de Neurociencias de Buenos Aires (INEBA), Argentina.&#xD;
Sanatorio de la Trinidad Mitre, Argentina.; Fil. González Rojas, Natalia. Instituto de Neurociencias de Buenos Aires (INEBA), Argentina.; Fil.Persi, Gabriel.  Instituto de Neurociencias de Buenos Aires (INEBA), Argentina.&#xD;
Sanatorio de la Trinidad Mitre, Argentina.; Fil. Etcheverry, José Luis. Instituto de Neurociencias de Buenos Aires (INEBA), Argentina.; Fil. Cesarini, Martín Emiliano.  Instituto de Neurociencias de Buenos Aires (INEBA), Argentina.; Fil. Perandones, Claudia. Administración Nacional de Laboratorios e Institutos de Salud, ANLIS, Dr. Carlos G. Malbrán, Argentina.</summary>
    <dc:date>2020-01-01T00:00:00Z</dc:date>
  </entry>
  <entry>
    <title>Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients</title>
    <link rel="alternate" href="http://sgc.anlis.gob.ar/handle/123456789/2418" />
    <author>
      <name>Tenorio, Jair</name>
    </author>
    <author>
      <name>Alarcón, Pablo</name>
    </author>
    <author>
      <name>Arias, Pedro</name>
    </author>
    <author>
      <name>Dapía, Irene</name>
    </author>
    <author>
      <name>García-Miñaur, Sixto</name>
    </author>
    <author>
      <name>Palomares Bralo, María</name>
    </author>
    <author>
      <name>Campistol, Jaume</name>
    </author>
    <author>
      <name>Climent, Salvador</name>
    </author>
    <author>
      <name>Valenzuela, Irene</name>
    </author>
    <author>
      <name>Ramos, Sergio</name>
    </author>
    <author>
      <name>Monseny, Antonio Martínez</name>
    </author>
    <author>
      <name>Grondona, Fermina López</name>
    </author>
    <author>
      <name>Botet, Javier</name>
    </author>
    <author>
      <name>Serrano, Mercedes</name>
    </author>
    <author>
      <name>Solís, Mario</name>
    </author>
    <author>
      <name>Santos-Simarro, Fernando</name>
    </author>
    <author>
      <name>Álvarez, Sara</name>
    </author>
    <author>
      <name>Teixidó-Tura, Gisela</name>
    </author>
    <author>
      <name>Fernández Jaén, Alberto</name>
    </author>
    <author>
      <name>Gordo, Gema</name>
    </author>
    <author>
      <name>Bardón Rivera, María Belén</name>
    </author>
    <author>
      <name>Nevado, Julián</name>
    </author>
    <author>
      <name>Hernández, Alicia</name>
    </author>
    <author>
      <name>Cigudosa, Juan C</name>
    </author>
    <author>
      <name>Ruiz-Pérez, Víctor L</name>
    </author>
    <author>
      <name>Tizzano, Eduardo F</name>
    </author>
    <author>
      <name>Lapunzina, Pablo</name>
    </author>
    <id>http://sgc.anlis.gob.ar/handle/123456789/2418</id>
    <updated>2021-12-27T17:03:24Z</updated>
    <published>2020-01-01T00:00:00Z</published>
    <summary type="text">Title: Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
Authors: Tenorio, Jair; Alarcón, Pablo; Arias, Pedro; Dapía, Irene; García-Miñaur, Sixto; Palomares Bralo, María; Campistol, Jaume; Climent, Salvador; Valenzuela, Irene; Ramos, Sergio; Monseny, Antonio Martínez; Grondona, Fermina López; Botet, Javier; Serrano, Mercedes; Solís, Mario; Santos-Simarro, Fernando; Álvarez, Sara; Teixidó-Tura, Gisela; Fernández Jaén, Alberto; Gordo, Gema; Bardón Rivera, María Belén; Nevado, Julián; Hernández, Alicia; Cigudosa, Juan C; Ruiz-Pérez, Víctor L; Tizzano, Eduardo F; Lapunzina, Pablo
Abstract: Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic regulation, especially during embryonic development. Somatic variants in DNMT3A have been widely studied in different types of tumors, including acute myeloid leukemia, hematopoietic, and lymphoid cancers. Germline gain-of-function variants in this gene have been recently implicated in microcephalic dwarfism. Common clinical features of patients with TBRS include tall stature, macrocephaly, intellectual disability (ID), and a distinctive facial appearance. Differential diagnosis of TBRS comprises Sotos, Weaver, and Malan Syndromes. The majority of these disorders present other clinical features with a high clinical overlap, making necessary a molecular confirmation of the clinical diagnosis. We here describe seven new patients with variants in DNMT3A, four of them with neuropsychiatric disorders, including schizophrenia and psychotic behavior. In addition, one of the patients has developed a brain tumor in adulthood. This patient has also cerebral atrophy, aggressive behavior, ID, and abnormal facial features. Clinical evaluation of this group of patients should include a complete neuropsychiatric assessment together with psychological support in order to detect and manage abnormal behaviors such as aggressiveness, impulsivity, and attention deficit-hyperactivity disorder. TBRS should be suspected in patients with overgrowth, ID, tall stature, and macrocephaly, who also have some neuropsychiatric disorders without any genetic defects in the commonest overgrowth disorders. Molecular confirmation in these patients is mandatory.
Description: Fil. Tenorio, Jair. Instituto de Genética Médica y Molecular (INGEMM) -IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046, Madrid, España.&#xD;
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.; Fil. Alarcón, Pablo. Sección Genética, Hospital Clínico Universidad de Chile, Santos Dumont 999, Santiago, Chile.; Fil.  Arias, Pedro. Instituto de Genética Médica y Molecular (INGEMM) -IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046, Madrid, España.&#xD;
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.; Fil. Dapía, Irene. Instituto de Genética Médica y Molecular (INGEMM) -IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046, Madrid, España.&#xD;
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.; Fil. García-Miñaur, Sixto.  Instituto de Genética Médica y Molecular (INGEMM) -IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046, Madrid, España.&#xD;
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.; Fil. Palomares Bralo, Maria.  Instituto de Genética Médica y Molecular (INGEMM) -IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046, Madrid, España.&#xD;
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.; Fil. Campistol, Jaume. Departamento de Neurología, Hospital Universitari Sant Joan de Déu, Barcelona, ​​España.; Fil. Climent, Salvador. Departamento de Pediatría, Hospital General de Ontinyent, Valencia, España.; Fil. Valenzuela, Irene. Departamento de Cardiología, Hospital Universitari Vall d'Hebron, CIBER-CV, Universitat Autònoma de Barcelona, ​​Barcelona, ​​España.&#xD;
Departamento Molecular y Clínico, Hospital Valle Hebron, Pso. Vall d 'Hebron, 119-129, Barcelona, ​​España.; Fil. Ramos, Sergio. Instituto de Genética Médica y Molecular (INGEMM) -IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046, Madrid, España.&#xD;
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.; Fil. Martínez Monseny, Antonio. Departamento de Genética y Medicina Molecular y Unidad Pediátrica de Enfermedades Raras, Hospital Sant Joan de Déu, Barcelona, ​​España.; Fil.  López Grondona, Fermina. Departamento de Cardiología, Hospital Universitari Vall d'Hebron, CIBER-CV, Universitat Autònoma de Barcelona, ​​Barcelona, ​​España.; Fil. Botet, Javier. NIMGENETICS, c / Faraday, 7 Parque Científico de Madrid, 2804, Madrid, España.; Fil. Serrano, Mercedes. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.&#xD;
Departamento de Neurología, Hospital Universitari Sant Joan de Déu, Barcelona, ​​España.&#xD;
Departamento de Genética y Medicina Molecular y Unidad Pediátrica de Enfermedades Raras, Hospital Sant Joan de Déu, Barcelona, ​​España.; Fil. Solís, Mario. Instituto de Genética Médica y Molecular (INGEMM) -IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046, Madrid, España.&#xD;
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.; Fil. Santos-Simarro, Fernando. Instituto de Genética Médica y Molecular (INGEMM) -IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046, Madrid, España.&#xD;
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.; Fil. Álvarez, Sara. NIMGENETICS, c / Faraday, 7 Parque Científico de Madrid, 2804, Madrid, España.; Fil. Teixidó-Tura, Gisela. Departamento de Cardiología, Hospital Universitari Vall d'Hebron, CIBER-CV, Universitat Autònoma de Barcelona, ​​Barcelona, ​​España.; Fil. Fernández Jaén, Alberto. Servicio de Neurología Pediátrica, Hospitales Quirón, Madrid, España.; Fil. Gordo, Gema. Instituto de Genética Médica y Molecular (INGEMM) -IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046, Madrid, España.&#xD;
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.; Fil. Bardón Rivera, María Belén. Departamento de Psiquiatría, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046, Madrid, España.; Fil. Nevado, Julián. Instituto de Genética Médica y Molecular (INGEMM) -IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046, Madrid, España.&#xD;
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.; Fil. Hernández, Alicia.  Instituto de Genética Médica y Molecular (INGEMM) -IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046, Madrid, España.&#xD;
CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.; Fil. Cigudosa, Juan C. NIMGENETICS, c / Faraday, 7 Parque Científico de Madrid, 2804, Madrid, España.; Fil. Ruiz-Pérez, Víctor. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.&#xD;
Instituto de Investigaciones Biomédicas de Madrid (CSIC-UAM), Arturo Duperier 4, 28029, Madrid, España.; Fil. Tizzano, Eduardo F.  Departamento Molecular y Clínico, Hospital Valle Hebron, Pso. Vall d 'Hebron, 119-129, Barcelona, ​​España.; Fil. Lapunzina, Pablo. Instituto de Genética Médica y Molecular (INGEMM) -IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046, Madrid, España. pablo.lapunzina@salud.madrid.org.&#xD;
14CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, España.; Fil. Perandones, Claudia. Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán” Argentina; Fil. Consorcio SOGRI</summary>
    <dc:date>2020-01-01T00:00:00Z</dc:date>
  </entry>
  <entry>
    <title>Clinical Management of Argentine Hemorrhagic Fever using Ribavirin and Favipiravir, Belgium, 2020</title>
    <link rel="alternate" href="http://sgc.anlis.gob.ar/handle/123456789/2402" />
    <author>
      <name>Veliziotis, Ioannis</name>
    </author>
    <author>
      <name>Roman, Alain</name>
    </author>
    <author>
      <name>Martiny, Delphine</name>
    </author>
    <author>
      <name>Schuldt, Gerlind</name>
    </author>
    <author>
      <name>Claus, Marc</name>
    </author>
    <author>
      <name>Dauby, Nicolas</name>
    </author>
    <author>
      <name>Van den Wijngaert, Sigi</name>
    </author>
    <author>
      <name>Martin, Charlotte</name>
    </author>
    <author>
      <name>Nasreddine, Rakan</name>
    </author>
    <author>
      <name>Perandones, Claudia</name>
    </author>
    <author>
      <name>Mahieu, Romain</name>
    </author>
    <author>
      <name>Swaan, Corien</name>
    </author>
    <author>
      <name>Van Praet, Serge</name>
    </author>
    <author>
      <name>Konopnicki, Deborah</name>
    </author>
    <author>
      <name>Morales, María Alejandra</name>
    </author>
    <author>
      <name>Malvy, Denis</name>
    </author>
    <author>
      <name>Stevens, Etienne</name>
    </author>
    <author>
      <name>Dechamps, Philippe</name>
    </author>
    <author>
      <name>Vlieghe, Erika</name>
    </author>
    <author>
      <name>Vandenberg, Olivier</name>
    </author>
    <author>
      <name>Günther, Stephan</name>
    </author>
    <author>
      <name>Gérard, Michèle</name>
    </author>
    <id>http://sgc.anlis.gob.ar/handle/123456789/2402</id>
    <updated>2022-02-14T21:40:42Z</updated>
    <published>2020-01-01T00:00:00Z</published>
    <summary type="text">Title: Clinical Management of Argentine Hemorrhagic Fever using Ribavirin and Favipiravir, Belgium, 2020
Authors: Veliziotis, Ioannis; Roman, Alain; Martiny, Delphine; Schuldt, Gerlind; Claus, Marc; Dauby, Nicolas; Van den Wijngaert, Sigi; Martin, Charlotte; Nasreddine, Rakan; Perandones, Claudia; Mahieu, Romain; Swaan, Corien; Van Praet, Serge; Konopnicki, Deborah; Morales, María Alejandra; Malvy, Denis; Stevens, Etienne; Dechamps, Philippe; Vlieghe, Erika; Vandenberg, Olivier; Günther, Stephan; Gérard, Michèle
Abstract: We report a case of Argentine hemorrhagic fever diagnosed in a woman in Belgium who traveled from a disease-endemic area. Patient management included supportive care and combination therapy with ribavirin and favipiravir. Of 137 potential contacts, including friends, relatives, and healthcare and laboratory workers, none showed development of clinical symptoms of this disease.
Description: Fil. Veliziotis, I.  Université de Bruxelles, Brussels, Belgium &#xD;
Saint-Pierre University Hospital, Brussels; Fil. Roman, A. Université de Bruxelles, Brussels, Belgium&#xD;
Saint-Pierre University Hospital, Brussels; Fil. Martiny, D. Université de Bruxelles, Brussels, Belgium; Fil. Claus, M. Université de Bruxelles, Brussels, Belgium&#xD;
Saint-Pierre University Hospital, Brussels; Fil. Dauby, N. Université de Bruxelles, Brussels, Belgium&#xD;
Saint-Pierre University Hospital, Brussels; Fil.  Van den Wijngaert, S. Université de Bruxelles, Brussels, Belgium; Fil. Martin, C. Université de Bruxelles, Brussels, Belgium&#xD;
Saint-Pierre University Hospital, Brussels; Fil. Nasreddine, R. Université de Bruxelles, Brussels, Belgium&#xD;
Saint-Pierre University Hospital, Brussels; Fil. Konopnicki, D. Université de Bruxelles, Brussels, Belgium&#xD;
Saint-Pierre University Hospital, Brussels; Fil. Stevens, E. Université de Bruxelles, Brussels, Belgium&#xD;
Saint-Pierre University Hospital, Brussels; Fil. Dechamps, P. Université de Bruxelles, Brussels, Belgium&#xD;
Saint-Pierre University Hospital, Brussels; Fil. Vandenberg, O. Université de Bruxelles, Brussels, Belgium; Fil. Gérard, G. Université de Bruxelles, Brussels, Belgium&#xD;
Saint-Pierre University Hospital, Brussels; Fil. Van Praet, S. Saint-Pierre University Hospital, Brussels; Fil. Schuldt, G. Bernhard Nocht Institute for Tropical Medicine, Hamburg, Germany.; Fil. Günther, S.  Bernhard Nocht Institute for Tropical Medicine, Hamburg, Germany.; Fil. Perandones, C. Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán”; Fil. Mahieu, R.  Common Community Commission, Brussels; Fil. Swaan, C. National Institute for Public Health and the Environment, Bilthoven, the Netherlands; Fil. Morales, M. A. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Virales Humanas; Argentina.; Fil. Malvy, D.  University Hospital Center of Bordeaux, Bordeaux, France; Fil. Vlieghe, E. University Hospital Antwerp, Belgium; Fil. Vandenberg, O.  University College London, London, UK</summary>
    <dc:date>2020-01-01T00:00:00Z</dc:date>
  </entry>
</feed>

