Publications by authors named "Bernardo J A F Martins"
Pyogenic spondylodiscitis (PS) is a highly morbid and potentially fatal bacterial infection with an increasing incidence in recent decades. Its diagnosis and treatment are challenging, especially with the expansion of multidrug- or extensively drug-resistant bacteria. We report a rare case of PS caused by carbapenem-resistant (CRPA) that was treated with ceftazidime-avibactam (C/A).
View Article and Find Full Text PDFBackground: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic cause of ischemic stroke and the most common form of non-atherosclerotic stroke. Despite being the most prevalent vascular hereditary disease, clinical data regarding the Brazilian population are scarce. Considering that the Brazilian population has one of the most heterogeneous genetic constitutions in the world, knowledge about genetic and epidemiological profiles is mandatory.
View Article and Find Full Text PDFNeuromuscular choristoma (NMC) are lesions of the peripheral nervous system characterized by an admixture of skeletal muscle fibers and nerves fascicles that are frequently associated with desmoid fibromatosis (DF). Mutations in CTNNB1, the gene for β-catenin protein, are common in DF and related to its pathogenesis. They are restricted to exon 3, with 3 point mutations: T41A, S45F, and S45P.
View Article and Find Full Text PDFCoronary Calcium Score and Stratification of Coronary Artery Disease Risk in Patients with Atherosclerotic and Non-Atherosclerotic Ischemic Stroke.
Arq Bras Cardiol
December 2020
Background: Ischemic Stroke (IS) and Coronary Artery Disease (CAD) frequently coexist and share atherosclerotic disease risk factors. According to the American Heart Association, IS subtypes may be considered CAD risk equivalents, but the evidence for non-atherosclerotic IS is uncertain. Additionally, the Coronary Calcium Score (CCS) is an accurate marker to address CAD risk; however, CCS distribution between IS subtypes is not well characterized.
View Article and Find Full Text PDFArticle Synopsis
- Acute necrotizing encephalopathy (ANE) is a serious neurological condition in children, presenting with symptoms like fever, altered consciousness, and seizures, typically following a viral illness, without signs of central nervous system infection.
- MRI findings in ANE usually show symmetrical lesions in key brain areas such as the thalami and cerebellum, and, while most cases are sporadic, some familial cases have been linked to a genetic variant in RANBP2.
- A study detailed the clinical features and genetic findings of six family members with autosomal dominant ANE (ADANE), emphasizing the variability in symptoms among affected individuals and suggesting that the condition may have incomplete penetrance within families.
Gillespie syndrome (GS) [MIM: 206700] is a very rare condition characterized by bilateral iris defect, congenital hypotonia, cerebellar ataxia and intellectual disability. The typical iris anomaly is considered necessary to the diagnosis of GS. Recently, variants in ITPR1 were described causing GS.
View Article and Find Full Text PDFCraniofacial findings in fibrodysplasia ossificans progressiva: computerized tomography evaluation.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
April 2011
Objective: The aim of this study was the evaluation by using computerized tomography (CT) of craniofacial abnormalities in fibrodysplasia ossificans progressiva (FOP) patients regarding jaw restriction and retrognathia.
Study Design: Seven FOP patients were evaluated retrospectively in this observational study. Inclusion criteria were detection of ACVR1 gene mutation and complete craniofacial CT examination.