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Browsing by Author "Oliveira, A"

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  • Acute Liver Failure Due to Trazodone and Diazepam
    Publication . Carvalhana, S; Oliveira, A; Ferreira, P; Resende, M; Perdigoto, R; Barroso, E
    Most antidepressant agents have the potential to cause liver injury, even at therapeutic doses. Nevertheless, drug-induced liver injury (DILI) from antidepressant agents is a rare event. There is no way to prevent idiopathic DILI, but the severity of the reaction may be minimized with prompt recognition and early withdrawal of the agent. We describe a rare case of a 63-year-old man presenting with acute liver failure after 3 months of trazodone and diazepam administration at normal therapeutic doses, requiring liver transplantation. This report should increase physicians' awareness of this complication and call attention to the regular monitoring of liver tests in patients taking trazodone, in order to prevent life-threatening complications.
    2017-01Journal article Open access Show more
  • Caffeine Consumption and Mortality in Diabetes: An Analysis of NHANES 1999-2010
    Publication . Neves, JS; Leitão, L; Magriço, R; Bigotte Vieira, M; Viegas Dias, C; Oliveira, A; Carvalho, D; Claggett, B
    Aim: An inverse relationship between coffee consumption and mortality has been reported in the general population. However, the effect of coffee consumption in diabetes remains unclear. We aimed to evaluate the association of caffeine consumption and caffeine source with mortality among patients with diabetes. Methods: We examined the association of caffeine consumption with mortality among 1974 women and 1974 men with diabetes, using the National Health and Nutrition Examination Survey (NHANES) 1999-2010. Caffeine consumption was assessed at baseline using 24 h dietary recalls. Cox proportional hazard models were fitted to estimate hazard ratios (HR) for all-cause, cardiovascular, and cancer-related mortality according to caffeine consumption and its source, adjusting for potential confounders. Results: A dose-dependent inverse association between caffeine and all-cause mortality was observed in women with diabetes. Adjusted HR for death among women who consumed caffeine, as compared with non-consumers, were: 0.57 (95% CI, 0.40-0.82) for <100 mg of caffeine/day, 0.50 (95% CI, 0.32-0.78) for 100 to <200 mg of caffeine/day, and 0.39 (95% CI, 0.23-0.64) for ≥200 mg of caffeine/day (p = 0.005 for trend). This association was not observed in men. There was a significant interaction between sex and caffeine consumption (p = 0.015). No significant association between total caffeine consumption and cardiovascular or cancer mortality was observed. Women who consumed more caffeine from coffee had reduced risk of all-cause mortality (p = 0.004 for trend). Conclusion: Our study showed a dose-dependent protective effect of caffeine consumption on mortality among women with diabetes.
    2018Journal article Open access Show more
  • Clinical, Economic, and Humanistic Impact of Short-Bowel Syndrome/Chronic Intestinal Failure in Portugal (PARENTERAL Study)
    Publication . Silva, R; Guerra, P; Rocha, A; Correia, M; Ferreira, R; Fonseca, J; Lima, E; Oliveira, A; Vargas Gomes, M; Ramos, D; Andreozzi, V; Santos, MD
    Introduction: This study aimed to assess the clinical, economic, and humanistic impact of short-bowel syndrome/chronic intestinal failure (SBS/CIF) in Portugal. Methods: This is a retrospective multicenter cohort chart review study, with a cross-sectional component for quality-of-life (QoL) evaluation. Inclusion criteria comprised patients with SBS/CIF, aged ≥1 year, with stable parenteral nutrition (PN). Data collection included patient chart review over a 12-month period and patient/caregiver self-report and SF-36/PedsQL™ questionnaires. Main endpoints comprised clinical and PN characterization, healthcare resource use (HRU), direct costs, and patient QoL. Results: Thirty-one patients were included (11 adults and 20 children). Patients' mean age (standard deviation [SD]) was 57.9 (14.3) years in adults and 7.5 (5.0) years in children, with a mean time since diagnosis of 10.2 (5.9) and 6.6 (4.2) years, respectively. PN was administered for a mean of 5.2 and 6.6 days/week in adults and children, respectively; home PN occurred in 81.8% of adults and 90.0% of children for a mean of 9.6 and 10.8 months/year, respectively. The mean annual number of hospitalizations was 1.9 and 2.0 which lasted for a mean of 34.0 and 29.4 days in adults and children, respectively. Twenty-one and forty hospitalization episodes were reported in adults and children, respectively, of which 71.4% and 85.0% were due to catheter-related complications. Mean annual direct costs per patient amounted to 47,857.53 EUR in adults and 74,734.50 EUR in children, with PN and hospitalizations as the main cost-drivers. QoL assessment showed a clinically significant impaired physical component in adults and a notable deterioration in the school functioning domain in children. Conclusion: In Portugal, SBS/CIF patient management is characterized by a substantial therapeutic burden and HRU, translating into high direct costs and a substantial impairment of the adults' physical function and children's school functioning.
    2023Journal article Open access Show more
  • Collagen Type IV-Related Nephropathies in Portugal: Pathogenic COL4A5 Mutations and Clinical Characterization of 22 Families
    Publication . Nabais Sá, MJ; Sampaio, S; Oliveira, A; Alves, S; Moura, CP; Silva, SE; Castro, R; Araújo, JA; Rodrigues, M; Neves, F; Seabra, J; Soares, C; Gaspar, MA; Tavares, I; Freitas, L; Sousa, TC; Henriques, AC; Costa, FT; Morgado, E; Sousa, FT; Sousa, JP; da Costa, AG; Filipe, R; Garrido, J; Montalban, J; Ponce, P; Alves, R; Faria, B; Carvalho, MF; Pestana, M; Carvalho, F; Oliveira, JP
    Alport syndrome (AS) is caused by pathogenic mutations in the genes encoding α3, α4 or α5 chains of collagen IV (COL4A3/COL4A4/COL4A5), resulting in hematuria, chronic renal failure (CRF), sensorineural hearing loss (SNHL) and ocular abnormalities. Mutations in the X-linked COL4A5 gene have been identified in 85% of the families (XLAS). In this study, 22 of 60 probands (37%) of unrelated Portuguese families, with clinical diagnosis of AS and no evidence of autosomal inheritance, had pathogenic COL4A5 mutations detected by Sanger sequencing and/or multiplex-ligation probe amplification, of which 12 (57%) are novel. Males had more severe and earlier renal and extrarenal complications, but microscopic hematuria was a constant finding irrespective of gender. Nonsense and splice site mutations, as well as small and large deletions, were associated with younger age of onset of SNHL in males, and with higher risk of CRF and SNHL in females. Pathogenic COL4A3 or COL4A4 mutations were subsequently identified in more than half of the families without a pathogenic mutation in COL4A5. The lower than expected prevalence of XLAS in Portuguese families warrants the use of next-generation sequencing for simultaneous COL4A3/COL4A4/COL4A5 analysis, as first-tier approach to the genetic diagnosis of collagen type IV-related nephropathies.
    2015-11Journal article Open access Show more
  • Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience
    Publication . Quelhas, D; Martins, E; Azevedo, L; Bandeira, A; Diogo, L; Garcia, P; Sequeira, S; Ferreira, AC; Teles, EL; Rodrigues, E; Fortuna, AM; Mendonça, C; Fernandes, HC; Medeira, A; Gaspar, A; Janeiro, P; Oliveira, A; Laranjeira, F; Ribeiro, I; Souche, E; Race, V; Keldermans, L; Matthijs, G; Jaeken, J
    Objective: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years. Study design: The cohort includes patients with an unexplained multisystem or single organ involvement, with or without psychomotor disability. Serum sialotransferrin isoforms and, whenever necessary, apolipoprotein CIII isoforms and glycan structures were analyzed. Additional studies included measurement of phosphomannomutase (PMM) activity and analysis of lipid-linked oligosaccharides in fibroblasts. Sanger sequencing and massive parallel sequencing were used to identify causal variants or the affected gene, respectively. Results: Sixty-three individuals were diagnosed covering 14 distinct CDGs; 43 patients diagnosed postnatally revealed a type 1, 14 a type 2, and 2 a normal pattern on serum transferrin isoelectrofocusing. The latter patients were identified by whole exome sequencing. Nine of them presented also a hypoglycosylation pattern on apolipoprotein CIII isoelectrofocusing, pointing to an associated O-glycosylation defect. Most of the patients (62%) are PMM2-CDG and the remaining carry pathogenic variants in ALG1, ATP6AP1, ATP6AP2, ATP6V0A2, CCDC115, COG1, COG4, DPAGT1, MAN1B1, SLC35A2, SRD5A3, RFT1, or PGM1. Conclusions: Portuguese patients with CDGs are presented in this report, some of them showing unique clinical phenotypes. Among the 14 genes mutated in Portuguese individuals, 8 are shared with a previously reported Spanish cohort. However, regarding the mutational spectrum of PMM2-CDG, the most frequent CDG, a striking similarity between the 2 populations was found, as only 1 mutated allele found in the Portuguese group has not been reported in Spain.
    2021Journal article Open access Show more
  • A Dermatosis of Pregnancy
    Publication . Brás, S; Oliveira, A; Mendes-Bastos, P; Amaro, C
    2017-06Journal article Open access Show more
  • Dermoscopic and Reflectance Confocal Microscopic Presentation of Hailey‐Hailey Disease: a Case Series
    Publication . Oliveira, A; Arzberger, E; Pimentel, B; Sousa, V; Leal‐Filipe, P
    Background/purpose: Hailey-Hailey disease is a rare inherited acantholytic skin disorder characterized by heterogeneous clinical presentation. Its differential diagnosis might be wide, including other genodermatoses, inflammatory, and infectious skin diseases. Although histopathology remains as diagnostic gold standard, noninvasive techniques such as dermoscopy and reflectance confocal microscopy may assist clinical examination. Herein, we aim to further characterize the dermoscopic and reflectance confocal microscopic presentation of Hailey-Hailey disease with histologic correlation. Methods: Eight patients with Hailey-Hailey disease were consecutively recruited. All patients were examined using dermoscopy and reflectance confocal microscopy. Results: In all cases, dermoscopy enabled the visualization of polymorphous vessels, including glomerular and linear-looped vessels, within a pink-whitish background. Reflectance confocal microscopy revealed wide suprabasilar partial acantholysis and clefting, crusts, dilated papillae with tortuous vessels, and inflammatory cells. Dyskeratosis, uplocated papillae, and adnexal sparing were also observed. Conclusion: Although definite diagnosis was obtained by histopathology in all cases, dermoscopy and reflectance confocal microscopy allowed the identification of common features (even in cases with dissimilar clinical presentation) that may support an early diagnosis of Hailey-Hailey disease, and its differentiation from other more frequent skin disorders.
    2017-02Journal article Open access Show more
  • 2017-02Journal article Open access Show more
  • Dermoscopic Characteristics of Melanoma According to the Criteria "Ulceration" and "Mitotic Rate" of the AJCC 2009 Staging System for Melanoma
    Publication . Deinlein, T; Arzberger, E; Zalaudek, I; Massone, C; Garcias-Ladaria, J; Oliveira, A; Schulter, G; Hofmann-Wellenhof, R
    OBJECTIVE: The present study was conducted to identify possible dermoscopic patterns, associated with mitotic rate > 1/mm2, histological ulceration in melanoma and metastatic disease. METHODS: For this retrospective data analysis all clinical and dermoscopic digital images of primary malignant melanomas between 2008 and 2013 documented at the Department of Dermatology Graz were included, using the internal image data-base. 550 patients with 559 melanomas were included. RESULTS: While clinical or dermoscopic analysis considered ulceration to be present in 120 (21.5%) and 117 (20.9%) of all lesions, respectively, histopathology reported ulceration in only 96 cases (17.2%). The presence of milky-red areas, shiny-white streaks, a blue-white veil and blue-grey areas in dermoscopy is highly correlated with histological ulceration and a mitotic rate > 1/mm2. The dermoscopic patterns shiny-white streaks, milky-red areas and blue-white veil were also significantly associated with development of distant metastases. CONCLUSION: Our study proves a significant correlation between the dermoscopic patterns "blue white veil", "milky-red areas"and "shiny-white streaks"and the histological findings "ulceration"and "mitotic rate > 1/mm2". Furthermore these dermoscopic patterns are highly related to distant metastases. Thus, dermoscopy renders earlier prognostic statements possible.
    2017-04Journal article Open access Show more
  • Dermoscopy and Reflectance Confocal Microscopy for the Diagnosis of Scleromyxedema
    Publication . Mendes Bastos, P; Borges, AS; Cardoso, JC; Oliveira, A
    2019-05Journal article Open access Show more