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    Accidental finding of a cri du chat syndrome in an adult patient by means of array-CGH

    Ferreirós-Martínez, Raquel, López-Manzanares, Lydia, Alonso-Cerezo, Concepción
    Revista de neurologia, 16 July 2014, Vol.59(2), pp.71-6 [Revue évaluée par les pairs]
    MEDLINE/PubMed (U.S. National Library of Medicine)
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    Titre: Accidental finding of a cri du chat syndrome in an adult patient by means of array-CGH
    Auteur: Ferreirós-Martínez, Raquel; López-Manzanares, Lydia; Alonso-Cerezo, Concepción
    Sujet: Comparative Genomic Hybridization ; Cri-Du-Chat Syndrome -- Diagnosis
    Description: The cri du chat syndrome (CDCS) come from a partial or total deletion of the short arm of chromosome 5, being one of the most common deletion syndromes in human beings. The great majority of patients are diagnosed between the first month and first year of life, but herein we report a finding of a CDCS in a woman with a suspect of spinocerebellar ataxia, and a family medical record of ataxia and bipolar disorder. We pay special attention to the clinical features as well as the diagnostics tests, used to identify the CDCS. We report a case of a 46 years-old woman showing a borderline intelligence and bilateral cataract surgery at the age of 43. Beginning of symptoms in childhood included hypoacusia, ataxia, dysarthria, dysphagia, depression, cognitive impairment and bipolar disorder. Physical examination showed microcephaly, micrognathia, talipes equinovarus and ataxia. Karyotype and array-CGH were carried out on peripheral blood. The patient showed a rearrangement involving chromosomes 5 and 15, as well as an inversion of chromosome 9: 45,XX,inv9(p11q13);t(5,15)(p15.33;q11.2). Array comparative genomic hybridization was performed showing a 2.91 Mb deletion at 5p15.33, genomic formula arr 5p15.33 (151537-3057771)x1. The deletion involved 20 genes, including TERT gene. The multiple gene deletions confirmed the CDCS diagnosis, being responsible for the patient phenotype. It has been showed up the importance of using the correct diagnosis techniques (array-CGH, peripheral blood karyotype) as well as their appropriate choice.
    Fait partie de: Revista de neurologia, 16 July 2014, Vol.59(2), pp.71-6
    Identifiant: 1576-6578 (E-ISSN); 25005318 Version (PMID)

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    Titre: Le concept de la fermeture sociale et la condition de l'étranger malade : questionnements concernant les titres de séjour et les renvois de personnes migrantes séropositives / Lydia Manzanares
    Auteur: Manzanares, Lydia
    Editeur: Neuchâtel : Université de Neuchâtel
    Date: 2012
    Collation: 150 p.
    Note: Mémoire de master Université de Neuchâtel, 2012
    Classification: neu-sfm Switzerland
    neu-sfm Health
    neu-sfm HIV
    neu-sfm Undocumented immigrants
    neu-sfm Access to health care
    No RERO: R008253312
    Permalien:
    http://data.rero.ch/01-R008253312/html?view=NJ_V1

    • Article
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    Vagus nerve stimulation in patients with migraine

    Mosqueira, Antonio J, López-Manzanares, Lydia, Canneti, Beatrice, Barroso, Alejandro, García-Navarrete, Eduardo, Valdivia, Antonio, Vivancos, José
    Revista de neurologia, 16 July 2013, Vol.57(2), pp.57-63 [Revue évaluée par les pairs]
    MEDLINE/PubMed (U.S. National Library of Medicine)
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    Titre: Vagus nerve stimulation in patients with migraine
    Auteur: Mosqueira, Antonio J; López-Manzanares, Lydia; Canneti, Beatrice; Barroso, Alejandro; García-Navarrete, Eduardo; Valdivia, Antonio; Vivancos, José
    Sujet: Vagus Nerve Stimulation ; Migraine Disorders -- Therapy ; Vagus Nerve -- Physiopathology
    Description: Vagus nerve stimulation (VNS) has been approved for the treatment of refractory epilepsy when resective surgery is not possible, and has proved to be highly effective. Series published in the literature suggest a beneficial effect of VNS in the treatment of migraine. To determine the degree to which headaches improve in patients with migraine after the placement of VNS to treat refractory epilepsy, and to evaluate what variables are associated with an increased chance of success with this measure. An observation-based retrospective study was conducted from 1st January 1999 until 31st December 2010. Patients with VNS for refractory epilepsy were contacted by telephone, after selecting those who fulfilled International Headache Society criteria for migraine. Data collected included age, gender, year of placement, age at onset of epilepsy and migraine, improvement of seizures and migraine, presence of migraine with aura and coexistence of anxious-depressive syndrome. Ninety-four patients with VNS were contacted and 13 patients with migraine were selected. Following placement of the VNS, the number of episodes of migraine was seen to decrease by at least 50% in nine patients (69%) (p = 0.004) and there was a drop in the number of episodes of migraine in those patients who had also reduced their epileptic seizures (p = 0.012). No statistically significant associations were observed as regards sex, age, length of disease history, existence of migraine with aura or coexistence of anxious-depressive syndrome. VNS could have beneficial effects for patients with migraine, especially in cases that are difficult to control. Due to the type of study, these conclusions must be taken with caution. Prospective clinical studies are needed before introducing the technique into daily clinical practice.
    Fait partie de: Revista de neurologia, 16 July 2013, Vol.57(2), pp.57-63
    Identifiant: 1576-6578 (E-ISSN); 23836335 Version (PMID)

    • Plusieurs versions

    Support System to Improve Reading Activity in Parkinson’s Disease and Essential Tremor Patients

    Parrales Bravo, Franklin, Del Barrio García, Alberto A, Gallego De La Sacristana, Mercedes, López Manzanares, Lydia, Vivancos, José, Ayala Rodrigo, José Luis
    Sensors (Basel, Switzerland), 2017, Vol.17(5) [Revue évaluée par les pairs]

    • Plusieurs versions

    Minimal Clinically Important Difference for UPDRS‐III in Daily Practice

    Sánchez‐Ferro, Álvaro, Matarazzo, Michele, Martínez‐Martín, Pablo, Martínez‐Ávila, Jose Carlos, Gómez De La Cámara, Agustín, Giancardo, Luca, Arroyo Gallego, Teresa, Montero, Paloma, Puertas‐Martín, Verónica, Obeso, Ignacio, Butterworth, Ian, Mendoza, Carlos S., Catalán, Maria José, Molina, José Antonio, Bermejo‐Pareja, Félix, Martínez‐Castrillo, Juan Carlos, López‐Manzanares, Lydia, Alonso‐Cánovas, Araceli, Herreros Rodríguez, Jaime, Gray, Martha
    Movement Disorders Clinical Practice, July 2018, Vol.5(4), pp.448-450 [Revue évaluée par les pairs]