Acta Medica Port
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Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic cases and up to 13% in familial cases. Our aim was to describe the clinical characteristics, cytogenetic and FMR1 testing of a Portuguese population with premature ovarian insufficiency. ⋯ Our results underline the importance of genetic screening in premature ovarian insufficiency patients in both etiological study and genetic counselling.
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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.