Person:
Zelaya Huerta, María Victoria

Profile Picture

Email Address

person.page.identifierURI

https://academica-e.unavarra.es/handle/2454/50201

Birth Date

Research Projects

Organizational Units

Job Title

Last Name

Zelaya Huerta

First Name

María Victoria

person.page.departamento

Ciencias de la Salud

person.page.instituteName

ORCID

0000-0002-3692-3515

person.page.upna

812289

Name

Filters

2022 - 20232
Reset filters

Settings

Subject: Diagnosis ×

Search Results

Now showing 1 - 2 of 2
  • Thumbnail Image
    PublicationOpen Access
    Clinical, histopathologic and genetic features of rhabdoid meningiomas
    (MDPI, 2023) Garrido Ruiz, Patricia Alejandra; González-Tablas, María; Pasco Peña, Alejandro; Zelaya Huerta, María Victoria; Ortiz, Javier; Otero, Álvaro; Corchete, Luis Antonio; Ludeña, María Dolores; Caballero Martínez, María Cristina; Córdoba Iturriagagoitia, Alicia; Fernández, Inmaculada Catalina; González-Carreró Fojón, Joaquín; Hernández Laín, Aurelio; Orfao, Alberto; Tabernero, María Dolores; Ciencias de la Salud; Osasun Zientziak
    Rhabdoid meningiomas (RM) shows heterogeneous histological findings, and a wide variety of chromosomal copy number alterations (CNA) are associated with an unpredictable course of the disease. In this study, we analyzed a series of 305 RM samples from patients previously reported in the literature and 33 samples from 23 patients studied in our laboratory. Monosomy 22-involving the minimal but most common recurrent region loss of the 22q11.23 chromosomal region was the most observed chromosomal alteration, followed by losses of chromosomes 14, 1, 6, and 19, polysomies of chromosomes 17, 1q, and 20, and gains of 13q14.2, 10p13, and 21q21.2 chromosomal regions. Based on their CNA profile, RM could be classified into two genetic subgroups with distinct clinicopathologic features characterized by the presence of (1) chromosomal losses only and (2) combined losses and gains of several chromosomes. The latter displays a higher frequency of WHO grade 3 tumors and poorer clinical outcomes.
  • Thumbnail Image
    PublicationOpen Access
    Role of biomarkers for the diagnosis of prion diseases: a narrative review
    (MDPI, 2022) Altuna Azkargorta, Miren; Ruiz, Íñigo; Zelaya Huerta, María Victoria; Mendióroz Iriarte, Maite; Ciencias de la Salud; Osasun Zientziak
    Prion diseases are progressive and irreversible neurodegenerative disorders with a low incidence (1.5–2 cases per million per year). Genetic (10–15%), acquired (anecdotal) and sporadic (85%) forms of the disease have been described. The clinical spectrum of prion diseases is very varied, although the most common symptoms are rapidly progressive dementia, cerebellar ataxia and myoclonus. Mean life expectancy from the onset of symptoms is 6 months. There are currently diagnostic criteria based on clinical phenotype, as well as neuroimaging biomarkers (magnetic resonance imaging), neurophysiological tests (electroencephalogram and polysomnogram), and cerebrospinal fluid biomarkers (14-3-3 protein and real-time quaking-induced conversion (RT-QuIC)). The sensitivity and specificity of some of these tests (electroencephalogram and 14-3-3 protein) is under debate and the applicability of other tests, such as RT-QuIC, is not universal. However, the usefulness of these biomarkers beyond the most frequent prion disease, sporadic Creutzfeldt–Jakob disease, remains unclear. Therefore, research is being carried out on new, more efficient cerebrospinal fluid biomarkers (total tau, ratio total tau/phosphorylated tau and neurofilament light chain) and potential blood biomarkers (neurofilament light chain, among others) to try to universalize access to early diagnosis in the case of prion diseases.