Acta Medica Port
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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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Necrotizing fasciitis is a severe soft tissue infection with a high mortality rate and therefore requires emergent surgical treatment. Several microorganisms can cause this infection, Photobacterium damselae being one of them, with only eight cases previously published in the literature. ⋯ In this case report the patient survived after several debridement procedures and reconstruction of the upper limb with acellular dermal matrix and skin graft. A brief review of the Photobacterium damselae soft tissue infection reports as well as the clinical presentation, diagnosis, pathophysiology and treatment of necrotizing fasciitis can also be found in this paper.
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Long-term health impairments are often experienced among survivors of critical illness, which may have a negative impact on their quality of life. The aim of this study was to characterize COVID-19 survivors of critical illness and to evaluate health-related quality of life and disability following hospital discharge. ⋯ An organized follow-up structure is crucial to improve health-related quality of life in critical COVID-19 survivors.
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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.