Browsing by Author "Torres, M"
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- Clinical and Epidemiological Features of Hospitalized and Ambulatory Patients with Human Monkeypox Infection: A Retrospective Observational Study in PortugalPublication . Caria, J; Pinto, R; Leal, E; Almeida, V; Cristóvão, G; Gonçalves, AC; Torres, M; Santos, MB; Pinheiro, H; Póvoas, D; Seixas, D; Lino, S; Cardoso, O; Manata, MJ; Virgolino, A; Maltez, FMonkeypox, a neglected and re-emergent zoonotic disease caused by monkeypox virus (MPXV) infection, has been endemic in Central and Western Africa for decades. More recently, an outbreak has spread to a global level, occurring in sites with no previous reported cases and being clustered among men who have sex with men, suggesting new modes of transmission. There is an urgent need for research for a better understanding of the genomic evolution and changing epidemiology of the Orthopoxvirus group. Our work aimed to characterize the clinical and epidemiological features of a cohort of patients with MPXV infection in a Portuguese hospital, admitted between 5 May and 26 July 2022. In this retrospective observational study, aggregate data of a case series on the presentation, clinical course, and outcomes of confirmed MPXV infections are reported. The study included 40 men and 1 woman, with a mean age of 37.2 years old; 92.7% identified as men who have sex with men, 90.2% had unprotected sex or sex with multiple or anonymous partners in the previous month, and 39.0% reported to have had sex with an MPXV-confirmed case; 59.5% had previously known human immunodeficiency virus (HIV) infection, all of whom were under antiretroviral therapy, and no patients had acquired immunodeficiency syndrome (AIDS) criteria. About a quarter of patients were observed only a week after symptom onset. All patients had skin or mucosal lesions and the anogenital region was the most frequent lesion site. There were no statistically significant clinical differences between HIV-positive and negative individuals. Four patients were admitted to the inpatient clinic, two of whom had proctitis with difficult-to-manage anal pain. There were no reported deaths. Our findings suggest the sexual route as a relevant mode of transmission of MPXV and confirm the mostly benign presentation of this disease.
- Fabry Disease Caused by the GLA p.Phe113Leu (p.F113L) Variant: Natural History in MalesPublication . Oliveira, J; Nowak, A; Barbey, F; Torres, M; Nunes, J; Teixeira-e-Costa, F; Carvalho, F; Sampaio, S; Tavares, I; Pereira, O; Soares, A; Carmona, C; Cardoso, MT; Jurca-Simina, I; Spada, M; Ferreira, S; Germain, DBackground, aims and methods: The α-galactosidase gene (GLA) c.337T>C/p.Phe113Leu variant was originally described in patients with late-onset cardiac forms of Fabry disease (FD), who had residual α-galactosidase activity. It has since emerged as the most commonly reported GLA variant in Portuguese subjects diagnosed with FD but is also prevalent in the Italian population, where two boys carrying the GLA Leu113 allele were identified in a large-scale newborn screening program, the variant allele segregating in both cases with the same surrounding haplotype. To further delineate the genotype-phenotype correlations of this GLA variant, we have reviewed the natural history and clinical phenotypes of 11 symptomatic Portuguese males, from 10 unrelated families originating from several different areas in mainland Portugal and Madeira Island, who were diagnosed with FD associated with the GLA Leu113 allele in a diversity of clinical and screening settings. Nine of the patients were the probands of their respective families. To test whether the GLA Leu113 allele inherited by the 10 Portuguese and the two Italian families resulted from independent mutational events, we have additionally performed a haplotype analysis with 5 highly polymorphic, closely linked microsatellite markers surrounding the GLA gene. Results and conclusions: Hemizygosity for the GLA Leu113 variant allele is associated with a late-onset form of FD, invariably presenting with severe cardiac involvement. Clinically relevant cerebrovascular and kidney involvement may also occur in some patients but the pathogenic relationship between the incomplete α-galactosidase deficiency and the risks of stroke and of chronic kidney disease is not straightforward. The observation that the Leu113 allele segregated within the same GLA microsatellite haplotype in both the Portuguese and Italian families suggests its inheritance from a common ancestor.
- Pneumocystosis Pneumonia: A Comparison Study Between HIV and Non-HIV Immunocompromised PatientsPublication . Rego de Figueiredo, I; Vieira Alves, R; Drummond Borges, D; Torres, M; Lourenço, F; Antunes, AM; Gruner, H; Panarra, APneumocystis pneumonia (PCP) is caused by the fungus Pneumocystis jirovecii, and its incidence has been on the rise in immunosuppressed patients without HIV. We performed a cross sectional study in patients with PCP and assessed demographic, clinical presentation and outcome measures such as mechanical ventilation and mortality differences between HIV and non-HIV patients. The two groups were statistically significantly different, with the HIV group being younger (45.5 years vs 55.9 years, p-value 0.001) and mostly composed of male patients (69% vs 31%, p-value <0.001). Also, the HIV patients had higher percentage of respiratory complaints (90% vs 68%, p-value 0.02) and lactate dehydrogenase elevation (73% vs 40%, p-value 0.001). In contrast, non-HIV patients had worse outcomes with higher incidence of invasive mechanical ventilation (23% vs 46%, p-value 0.005) and in-hospital mortality (13% vs 37%, p-value 0.002). These results reflect the literature and should raise awareness to a potentially fatal medical situation of increasing incidence.
- Tuberculosis Infection in HIV Vs Non‐HIV PatientsPublication . Rego de Figueiredo, I; Branco Ferrão, J; Dias, S; Vieira Alves, R; Drummond Borges, D; Torres, M; Guerreiro Castro, S; Lourenço, F; Antunes, AM; Gruner, H; Panarra, AObjectives: Tuberculosis (TB) is the most common opportunistic infection and cause of mortality among people living with HIV, and it is possible that it may also influence the evolution of the HIV infection. We assessed the differences between HIV-positive and -negative people infected with TB. Methods: The present study is a cross-sectional retrospective study by electronic record revision. We included patients admitted to a tertiary hospital with a diagnosis of TB between 2011 and 2016, comparing those with HIV coinfection with non-HIV patients, according to demographic and clinical characteristics. Results: This study included 591 patients, of whom 32% were HIV-coinfected. HIV-TB patients were younger, with a predominance of male gender. Considering TB risk factors, there was a higher prevalence of homelessness and intravenous drug use in the HIV group. In the non-HIV group, direct contact with other patients with TB and immunosuppression were more prevalent. Relative to TB characteristics, the HIV-coinfected group presents with a higher prevalence of disseminated disease and a higher occurrence of previous TB infection. Cancer was the most frequent cause of immunosuppression in the HIV group and the number testing positive for TB via microbiological culture was lower. Assessment of microbiological resistance and in-hospital mortality showed similar numbers in both groups. Conclusions: There are few papers comparing clinical course of TB between HIV-infected and non-infected patients. Our study differs from others in the literature as we focused on a country with middling incidence of TB and further characterized the differences between HIV-infected and non-infected patients which can contribute to the management of these patients.