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  1. Article ; Online: Motor, cognitive and behavioural outcomes after neonatal hypoxic-ischaemic encephalopathy.

    Hortigüela, María Montesclaros / Martínez-Biarge, Miriam / Conejo, David / Vega-Del-Val, Cristina / Arnaez, Juan

    Anales de pediatria

    2024  Volume 100, Issue 2, Page(s) 104–114

    Abstract: Introduction: The current neurodevelopmental status of patients with neonatal hypoxic-ischaemic encephalopathy (HIE) in Spain is unknown. Recent European studies highlight a shift of severe pathology towards mild motor disorders and emotional problems. ... ...

    Abstract Introduction: The current neurodevelopmental status of patients with neonatal hypoxic-ischaemic encephalopathy (HIE) in Spain is unknown. Recent European studies highlight a shift of severe pathology towards mild motor disorders and emotional problems. The aim of this study was to analyse neurodevelopmental outcomes in a cohort of neonates with HIE at age 3 years.
    Patients and method: Multicentre observational study of neonates born at 35 or more weeks of gestation with moderate to severe HIE in 2011-2013 in 12 hospitals in a large Spanish region (91 217 m
    Results: Sixty-three patients were recruited, of whom 5 (7.9%) were excluded due to other pathology and 14 (24%) died. Of the 44 survivors, 42 (95.5%) were evaluated. Of these 42, 10 (24%) had adverse outcomes (visual or hearing impairment, epilepsy, cerebral palsy or developmental delay). Other detected problems were minor neurological signs in 6 of the 42 (14%) and a higher incidence of emotional problems compared to controls: introversion (10.5% vs. 1.3%), anxiety (34.2% vs. 11.7%) and depression (28.9% vs. 7.8%) (P < .05). The severity of the lesions on neuroimaging was significantly higher in patients with motor impairment (P = .004) or who died or had an adverse outcome (P = .027).
    Conclusion: In addition to classical sequelae, the followup of patients with neonatal HIE should include the diagnosis and treatment of minor motor disorders and social and emotional problems.
    MeSH term(s) Child, Preschool ; Humans ; Infant, Newborn ; Asphyxia Neonatorum ; Cognition ; Cognitive Dysfunction ; Hypoxia-Ischemia, Brain/therapy ; Parturition
    Language English
    Publishing date 2024-02-07
    Publishing country Spain
    Document type Journal Article ; Multicenter Study ; Observational Study
    ZDB-ID 2830901-7
    ISSN 2341-2879 ; 2341-2879
    ISSN (online) 2341-2879
    ISSN 2341-2879
    DOI 10.1016/j.anpede.2024.01.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: CACNA1A

    Martínez-Monseny, Antonio F / Edo, Albert / Casas-Alba, Dídac / Izquierdo-Serra, Mercè / Bolasell, Mercè / Conejo, David / Martorell, Loreto / Muchart, Jordi / Carrera, Laura / Ortez, Carlos I / Nascimento, Andrés / Oliva, Baldo / Fernández-Fernández, José M / Serrano, Mercedes

    International journal of molecular sciences

    2021  Volume 22, Issue 10

    Abstract: ... ...

    Abstract The
    MeSH term(s) Adult ; Amino Acid Sequence ; Ataxia/congenital ; Ataxia/etiology ; Ataxia/metabolism ; Ataxia/pathology ; Calcium Channels/chemistry ; Calcium Channels/genetics ; Calcium Channels/metabolism ; Child ; Female ; Humans ; Male ; Mutation ; Neuroimaging ; Phenotype ; Protein Conformation ; Sequence Homology ; Structure-Activity Relationship ; Young Adult
    Chemical Substances CACNA1A protein, human ; Calcium Channels
    Language English
    Publishing date 2021-05-13
    Publishing country Switzerland
    Document type Case Reports ; Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms22105180
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

    Schlüter, Agatha / Rodríguez-Palmero, Agustí / Verdura, Edgard / Vélez-Santamaría, Valentina / Ruiz, Montserrat / Fourcade, Stéphane / Planas-Serra, Laura / Martínez, Juan José / Guilera, Cristina / Girós, Marisa / Artuch, Rafael / Yoldi, María Eugenia / O'Callaghan, Mar / García-Cazorla, Angels / Armstrong, Judith / Marti, Itxaso / Mondragón Rezola, Elisabet / Redin, Claire / Mandel, Jean Louis /
    Conejo, David / Sierra-Córcoles, Concepción / Beltrán, Sergi / Gut, Marta / Vázquez, Elida / Del Toro, Mireia / Troncoso, Mónica / Pérez-Jurado, Luis A / Gutiérrez-Solana, Luis G / López de Munain, Adolfo / Casasnovas, Carlos / Aguilera-Albesa, Sergio / Macaya, Alfons / Pujol, Aurora

    Neurology

    2022  Volume 98, Issue 9, Page(s) e912–e923

    Abstract: Background and objectives: Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the ... ...

    Abstract Background and objectives: Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the clinical utility of singleton whole-exome sequencing and whole-genome sequencing (sWES-WGS) interpreted with a phenotype- and interactome-driven prioritization algorithm to diagnose GWMD while identifying novel phenotypes and candidate genes.
    Methods: A case series of patients of all ages with undiagnosed GWMD despite extensive standard-of-care paraclinical studies were recruited between April 2017 and December 2019 in a collaborative study at the Bellvitge Biomedical Research Institute (IDIBELL) and neurology units of tertiary Spanish hospitals. We ran sWES and WGS and applied our interactome-prioritization algorithm based on the network expansion of a seed group of GWMD-related genes derived from the Human Phenotype Ontology terms of each patient.
    Results: We evaluated 126 patients (101 children and 25 adults) with ages ranging from 1 month to 74 years. We obtained a first molecular diagnosis by singleton WES in 59% of cases, which increased to 68% after annual reanalysis, and reached 72% after WGS was performed in 16 of the remaining negative cases. We identified variants in 57 different genes among 91 diagnosed cases, with the most frequent being
    Discussion: Our strategy enables a high diagnostic yield and is a good alternative to trio WES/WGS for GWMD. It shortens the time to diagnosis compared to the classical targeted approach, thus optimizing appropriate management. Furthermore, the interactome-driven prioritization pipeline enables the discovery of novel disease-causing genes and phenotypes, and predicts novel putative candidate genes, shedding light on etiopathogenic mechanisms that are pivotal for myelin generation and maintenance.
    MeSH term(s) Base Sequence ; Central Nervous System Diseases/genetics ; Exome/genetics ; Humans ; White Matter/pathology ; Whole Exome Sequencing ; Whole Genome Sequencing
    Language English
    Publishing date 2022-01-10
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000013278
    Database MEDical Literature Analysis and Retrieval System OnLINE

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