Browsing by Issue Date, starting with "2017"
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- É o Teste de Impulso Cefálico um rápido e breve substituto da Prova Calórica?Publication . Breda, M; Menezes, A; Lima, A; Ribeiro, D; Vilarinho, S; Dias, L
- Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental DiseasePublication . Lopes, F; Soares, G; Gonçalves-Rocha, M; Pinto-Basto, JM; Maciel, PMutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the literature. However, small deletions (<1 MB) affecting almost exclusively EBF3 are not commonly reported. We performed array comparative genomic hybridization (aCGH) (Agilent 180K) and quantitative PCR analysis in a female patient with intellectual disability. A clinical comparison between our patient and overlapping cases reported in the literature was also made. The patient carries a de novo 600 Kb deletion at 10q26.3 affecting the MGMT, EBF3, and GLRX genes. The patient has severe intellectual disability, language impairment, conductive hearing loss, hypotonia, vision alterations, triangular face, short stature, and behavior problems. This presentation overlaps that reported for patients carrying EBF3 heterozygous point mutations, as well as literature reports of patients carrying large 10qter deletions. Our results and the literature review suggest that EBF3 haploinsufficiency is a key contributor to the common aspects of the phenotype presented by patients bearing point mutations and indels in this gene, given that deletions affecting the entire gene (alone or in addition to other genes) are causative of a similar syndrome, including intellectual disability (ID) with associated neurological symptoms and particular facial dysmorphisms.
- Preditores da recuperação audiométrica em doentes com Surdez Súbita NeurossensoriaPublication . Menezes, A; Breda, M; Lima, A; Guimarães, J; Dias, L
- Hoarding Disorder: A Case ReportPublication . Vilaverde, D; Gonçalves, J; Morgado, PHoarding disorder is characterized by a persistent difficulty discarding items, the desire to save items to avoid negative feelings associated with discarding them, significant accumulation of possessions that clutter active living areas and significant distress or impairment in areas of functioning. We present a case of a 52-year-old married man who was referred to the psychiatry department for collecting various objects that were deposited unorganized in the patient's house. He reported to get anxious when someone else discarded some of these items. This behavior had started about 20 years earlier and it worsened with time. The garage, attic, and surroundings of his house were cluttered with these objects. On admission, in the mental status examination, it was observed that the patient was vigil, calm, and oriented; his mood was depressed; his speech was organized, logic, and coherent; and there were no psychotic symptoms. A psychotherapeutic plan was designed for the patient, including psychoeducation, cognitive restructuring, and exposure to discarding objects. A pharmacological treatment with fluvoxamine 100 mg tid and quetiapine 200 mg was added to the therapeutic plan, with the progressive improvement of the symptoms. Nine months later, the patient was able to sell/recycle most of the items. Studies evaluating treatment for HD are necessary to improve the quality of life of the patients and to reduce the hazards associated with the disorder.
- Alargamento do aqueduto vestibular e a hipoacusia na criança – relato de um caso clínicoPublication . Costa, I; Ribeiro, D; Rodrigues, B; Menezes, A; Lima, A; Breda, M; Dias, L
- Rinossinusite crónica: Correlação entre a clínica e o score lund-mackayPublication . Breda, M; Miranda, D; Pereira, S; Silva, D; Menezes, A; Moreira, F; Ribeiro, D; Rocha, J; Dias, LIntrodução: O correcto diagnóstico da rinossinusite crónica com (RSCcP) ou sem (RSCsP) polipose implica o domínio da anamnese e exame objectivo para, criteriosamente, requisitar-se a tomografia computorizada dos seios-perinasais (TC SPN)1 . Com base neste exame, Lund e Mackay sugeriram um estadiamento imagiológico (SLM)2 de forma a quantificar a opacificação dos SPN. Objectivos: Verificar se existe uma correlação entre a clínica e o SLM. Métodos: Estudo retrospectivo controlado, de doentes com RSCc/sP submetidos a CENS durante 2013. Resultados: Recorrendo à regressão linear verificou-se que cada sintoma adicional aumentava o SLM em 2,5 unidades (IC95%:1,9-3,2). Através da regressão logística binária, verificou-se que a presença de rinorreia (OR=29; IC95% 2-539), de prurido nasal (OR=20; IC95% 1-394) e de obstrução nasal (OR=17; IC95% 2-133) eram factores de risco para SLM>4. Conclusão: Existe correlação positiva entre a clínica e o SLM.
- Management of hypopharyngeal and laryngeal tumours:a 6-year reviewPublication . Menezes, A; Breda, M; Silva, D; Lima, A; Guimarães, J; Dias, L
- Manifestações otorrinolaringológicas da doença de Madelung – a propósito de um caso clínicoPublication . Costa, I; Rodrigues, B; Menezes, A; Lima, A; Silva, D; Breda, M; Dias, L
- Abordagem e tratamento da doença de Madelung: a propósito de um caso clínicoPublication . Costa, I; Rodrigues, B; Menezes, A; Lima, A; Silva, D; Breda, M; Dias, L