Medicina
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Case Reports
[Subacute ataxia associated with cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS)].
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a late onset neurodegenerative disorder. Its genetic basis has recently been identified in the gene encoding a subunit of the Replication Factor C (RFC1). We present the case of a 62-year-old woman who experienced a history of a biphasic presentation of imbalance and gait disorders, with rapid onset of symptoms followed by slow and progressive neurological deterioration. ⋯ Subsequently, vestibular function tests identified severe bilateral vestibulopathy. This led to considering CANVAS among the diagnoses, which was ultimately confirmed through genetic testing (biallelic expansion of the pentanucleotide AAGGG in the RFC1 gene). This case highlights the importance of this new described genetic disease and its subacute presentation variant, emphasizing the relevance of objective vestibular function tests in idiopathic ataxias to achieve proper diagnosis and eventual genetic counseling for offspring.
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Sellar metastases (SM) are rare manifestations of malignancy. Breast and lung cancer are the most common primary tumors. Most cases are diagnosed in patients with advanced malignant disease; however, symptoms of pituitary involvement can precede the diagnosis of the primary tumor. ⋯ In the presence of a pituitary lesion with diffuse gadolinium uptake, associated with insipidus diabetes and / or visual disorder SM should be suspected even in patients without a history of oncological disease.
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The economic consequences of mandatory coverage, through judicial means, of high-priced medications constitutes a growing problem, which merits knowing its local characteristics to provide possible solutions. ⋯ Judicialization focused on very highpriced medications for rare or oncological diseases. The rulings were mostly in favor of the plaintiff, and access times to the medication took a long time. The mass media anticipated the judicial processes.
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Shrinking lung syndrome (SLS) is a rare and less-known manifestation of systemic lupus erythematosus (SLE). The aim of this study is to describe the demographic, clinical, functional, imaging characteristics, and treatment received in a cohort of patients diagnosed with SLS. ⋯ SLS prevalence was 10.3%, higher than reported in other studies of SLE. Dyspnea was the most clinical symptom. Suspicion of moderate restriction were determined with mild deterioration of DLCO. Atelectasis was the most frequent HCRT sign. Immunosupressive treatment was prescribed in all patients with systemic corticosteroids associated to other drugs.
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Observational Study
[Incidence of metastasis and survival in patients with primary uveal melanoma].
Primary uveal melanoma is the most common intraocular malignancy in adults. Almost 50% of patients die from metastatic disease despite successful local treatment. The objective was to estimate the incidence of metastasis and survival in patients with primary uveal melanoma. The second objective was to determine the independent predictors of metastasis. ⋯ Although the median time to the event (metastasis) is 26.5 moths, it could occur many years after local oncological effective treatment. An early diagnosis would allow finding smaller tumors and would improve the prognosis.