Acta Medica Port
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Reports of cardiovascular complications related to the COVID-19 infection have been frequent. ⋯ The interaction between SARS-CoV-2 and the heart is complex and is manifested in multiple ways. Regardless of the clinical presentation, cardiac complications convey a worse prognosis. Patients should be actively monitored and treated accordingly.
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Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare T-cell neoplasm that is predominantly associated with the use of textured implants. Recently, several countries have tried to clarify their epidemiological profile of BIA-ALCL. This study aims to estimate the number of cases of BIA-ALCL in Portugal and to describe the pattern of use of breast implants at a national level. ⋯ In the future, the creation of a national patient registry and proper recognition of BIA-ALCL by plastic surgeons could be useful tools to clarify the impact of the disease nationally and to mitigate potential risk factors.
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Creutzfeldt-Jakob disease typically presents as rapidly progressive dementia. We describe the case of a 59-year-old male patient presenting with sudden onset of central facial palsy and dysarthria, followed by myoclonus of his left upper and lower limbs. Initial brain magnetic resonance showed hyperintensity of the right caudate and putamen on diffusion-weighted imaging and T2 sequences. ⋯ The patient died four months later. We report a case of familial Creutzfeldt-Jakob disease with atypical clinical and radiological features, namely neurological focal signs with sudden onset, absence of significant cognitive impairment and unilateral radiological findings. With disease progression, characteristic clinical and radiological features led to the diagnosis.
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Sequence variants in the GJB2 gene account for up to 50% of cases of non-syndromic sensorineural hearing loss in the Caucasian population. In this study, we report the frequency of the less common variants of the GJB2 gene in a Portuguese sample and compare these frequencies with those of a group of hearing-impaired patients. ⋯ Understanding the role of the variants is essential in order to provide genetic counselling to patients and their families. We explored a set of uncommon GJB2 variants that comprised 12% of the hearing-impaired patients in this study, supporting the relevance of their description.
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Primary open-angle glaucoma is the most frequent subtype of glaucoma. Relatives of primary open-angle glaucoma patients have an increased risk of developing the disease, suggesting a genetic predisposition to the disease. MYOC was the first primary open-angle glaucoma-causing gene identified. This study aimed to identify sequence variations in the MYOC gene that may be responsible for the phenotype in a group of primary open-angle glaucoma patients from the Centre Region of Portugal. ⋯ This is the first study performed in a group of primary open-angle glaucoma patients from the Centre Region of Portugal, contributing to the identification of one genetic variant in the MYOC gene and reinforcing the hypothesis that normal tension glaucoma could be also due to MYOC gene mutations.