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Browsing by Author "Geraldo, A"

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  • Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study
    Publication . Tábuas-Pereira, M; Almendra, L; Almeida, MR; Durães, J; Pinho, AR; Matos, A; Negrão, L; Geraldo, A; Santana, I
    INTRODUCTION: Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are considered part of the same pathological spectrum. There is an increased risk of ALS in patients who have had melanoma. The risk of FTLD in melanoma (or cancer) patients is unknown. We aimed to study if C9ORF72 expansion is linked to a higher prevalence of melanoma. METHODS: We selected patients with a diagnosis in the ALS-FTLD spectrum who were tested for pathogenic mutations. Medical history was reviewed, to identify those with pathologically documented melanomas. RESULTS: We included 189 patients. Sixty-two had identified pathogenic mutations (39 C9ORF72). C9ORF72 carriers had a significantly higher risk of melanoma (odds ratio = 24.709; P < 0.007). There was no association with phenotype. CONCLUSIONS: These findings suggest that patients with a history of melanoma may have an increased probability of carrying a C9ORF72 repeat expansion. ALS or FTLD carriers of C9ORF72 should undergo surveillance for skin changes. Muscle Nerve 59:362-365, 2019.
    2019Journal article Open access Show more
  • Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene
    Publication . Negrão, L; Matos, A; Geraldo, A; Rebelo, O
    Limb-girdle muscular dystrophy 2G is caused by mutations in the telethonin (TCAP) gene in chromosome 17q11-12. This rare form of hereditary muscle disease was originally described in Brazilian patients and was recently identified in Chinese and Moldavian patients. We present the first Portuguese patient with a limb-girdle muscular dystrophy caused by a mutation in the TCAP gene. A Caucasian male, 50 years old, presented in his early twenties, slowly progressive weakness in upper and lower limbs. Neurologic examination revealed severe atrophy and weakness in the muscles of the arms, thighs and legs' anterior compartment. Muscle MRI of the thighs and legs revealed severe atrophy of all the muscles of the thighs and legs' anterolateral compartment, in a symmetrical way. Molecular studies identified the homozygous c.157C > T (p.Gln53X) mutation in exon 2 of the TCAP gene, already described in Brazilian patients.
    2010Journal article Open access Show more
  • National post hospital care project and length of hospitalization of patients with stroke 2010-2011
    Publication . Canha, C; Massano, A; Esperto, H; Rato, J; Ferreira, T; Geraldo, A
    INTRODUCTION: The National Post Hospital Care Project was created to provide a continuity of care after hospitalization or to functionally dependent people. Currently there is a great difficulty in the integration of patients. The objective of this paper is to compare the impact of the referral to the Project versus being discharged home, in the length of stay of stroke patients between 2010 and 2011. MATERIAL AND METHODS: Retrospective study of patients admitted to the Neurology Infirmary A and Stroke Unit of Coimbra's University Hospital, in 2010 and 2011. The cases analyzed were 1 209, featuring demographic data, length of stay, Rankin Score (mRS) and destination after discharge. The data was analyzed comparing the two years concerning the length of stay of stroke patients referred to the Project and those discharged home, given the their Rankin Score. RESULTS: In 2011, the number patients referred to the National Post Hospital Care Project was higher, 23.5% compared to 21.4%. The length of stay for the same Rankin Score of the patients referred to National Post Hospital Care Project, remained higher than those discharged home: for a Rankin Score of 1: 11, versus 26 days for the Project; Rankin Score 2: 13, versus 29 days for the project; Rankin Score 3: 13, versus 23 days for the Project; Rankin Score 4: 17, to 33 days for the Project, Rankin Score 5: 27, versus 39 days to the Project. After comparison between the length of stay of patient discharged of and those referred to the National Post Hospital Care Project, it was estimated that the referral represented an hospitalization excess of 1 718 days in 2010 and 1 198 days in 2011.
    2013Journal article Open access Show more
  • 2010Journal article Open access Show more