Intracranial vessel wall magnetic resonance imaging features of infectious vasculitis.

Vasculitis is a complication of several infectious diseases affecting the central nervous system, which may result in ischemic and/or hemorrhagic stroke, transient ischemic attack, and aneurysm formation. The infectious agent may directly infect the endothelium, causing vasculitis, or indirectly affect the vessel wall through an immunological mechanism. The clinical manifestations of these complications usually overlap with those of non-infectious vascular diseases, making diagnosis challenging.

A Deep Learning-based Model for Detecting Abnormalities on Brain MR Images for Triaging: Preliminary Results from a Multisite Experience.

Purpose: To develop a deep learning model for detecting brain abnormalities on MR images.

Materials And Methods: In this retrospective study, a deep learning approach using T2-weighted fluid-attenuated inversion recovery images was developed to classify brain MRI findings as "likely normal" or "likely abnormal." A convolutional neural network model was trained on a large, heterogeneous dataset collected from two different continents and covering a broad panel of pathologic conditions, including neoplasms, hemorrhages, infarcts, and others.

Validation of a Smartphone Application in the Evaluation and Treatment of Acute Stroke in a Comprehensive Stroke Center.

Background and Purpose- The increasing demand and shortage of experts to evaluate and treat acute stroke patients has led to the development of remote communication tools to aid stroke management. We aimed to evaluate the JOIN App smartphone system-a low-cost tool for rapid clinical and neuroimaging data sharing to expedite decision-making in stroke. Methods- Consecutive acute ischemic stroke patients treated at a University Hospital in Brazil from December 2014 to December 2015 were evaluated.

Methylphenidate Alters Functional Connectivity of Default Mode Network in Drug-Naive Male Adults With ADHD.

This study evaluated the hypothesis that methylphenidate immediate release (MPH-IR) treatment would improve Default Mode Network (DMN) within-connectivity. Resting-state functional connectivity of the main nodes of DMN was evaluated in a highly homogeneous sample of 18 drug-naive male adult participants with ADHD. Comparing resting-state functional connectivity functional magnetic resonance imaging (R-fMRI) scans before and after MPH treatment focusing exclusively on within-DMN connectivity, we evidenced the strengthening of functional connectivity between two nodes of the DMN: posterior cingulate cortex (PCC) and left lateral parietal cortex (LLP).

Reproducibility of a quantitative system for assessing the quality of diagnostic ultrasound.

Objective: To present a quantitative system for assessing the quality of ultrasound examinations-SQUALUS-and to determine its reproducibility, taking into consideration the images on file, as well as the consistency between the images obtained and the final report.

Materials And Methods: The system includes questions related to the number of images; the appropriateness of images in relation to the protocol established; focus adjustment; depth; gain; and appropriateness of the measurements for B-mode examinations. For Doppler examinations, the system includes questions related to the appropriateness of color images, the spectral analysis, and correction of the insonation angle.

Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses.

After publication of the article [1], it has been brought to our attention that the full funding acknowledgement is missing from the original article.

Breast cancer mammographic diagnosis performance in a public health institution: a retrospective cohort study.

Objectives: To evaluate the quality assurance of mammography results at a reference institution for the diagnosis and treatment of breast cancer in southern Brazil, based on the BIRADS (Breast Imaging Reporting and Data System) 5th edition recommendations for auditing purposes.

Materials And Methods: Retrospective cohort and cross-sectional study with 4502 patients (9668 mammographies)) who underwent at least one or both breast mammographies throughout 2013 at a regional public hospital, linked to a federal public university. The results were followed until 31 December 2014, including true positives (TPs), true negatives (TNs), false positives (FPs), false negatives (FNs), positive predictive values (PPVs), negative predictive value (NPV), sensitivity and specificity, with a confidence interval of 95%.

Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses.

Background: Very little is known about the incidence and prevalence of hydrocephalus in patients with mucopolysaccharidoses (MPS). The biggest challenge is to distinguish communicating hydrocephalus from ventricular dilatation secondary to brain atrophy, because both conditions share common clinical and neuroradiological features. The main purpose of this study is to assess the relationship between ventriculomegaly, brain and cerebrospinal fluid (CSF) volumes, aqueductal and cervical CSF flows, and CSF opening pressure in MPS patients, and to provide potential biomarkers for abnormal CSF circulation.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical.

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.

Objective: To describe survival and neurological outcomes after HSCT for these disorders.

Methods: Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated.

Rhombencephalitis: pictorial essay.

The term rhombencephalitis refers to inflammatory diseases affecting the hindbrain (brainstem and cerebellum). Rhombencephalitis has a wide variety of etiologies, including infections, autoimmune diseases, and paraneoplastic syndromes. Infection with bacteria of the genus is the most common cause of rhombencephalitis.

Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know.

Mucopolysaccharidosis (MPS) is an inherited metabolic disease and a member of the group of lysosomal storage disorders. Its hallmark is a deficiency of lysosomal enzymes involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). The products of GAG degradation accumulate within lysosomes and in the extracellular space, thereby interfering with the degradation of other macromolecules.

Intracranial extra-axial hemangioma in a newborn: A case report and literature review.

Background: Congenital hemangiomas are benign vascular tumors, and the intracranial counterpart was described in very few cases.

Case Description: A newborn presented with an intracranial tumor associated with an arachnoid cyst, diagnosed by antenatal ultrasound at 37 weeks of gestation. Surgery was indicated due to increased head circumference and bulging fontanelle, and a complete resection of an extra-axial red-brown tumor was performed at the 3(rd) week of life.

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.

In some cases Neu-Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (PHGDH) gene. We describe the prenatal and postnatal findings in a fetus with one of the most severe NLS phenotypes described so far, caused by a homozygous nonsense mutation of PHGDH. Serial ultrasound (US) and pre- and postnatal magnetic resonance imaging (MRI) evaluations were performed.

Brain imaging and genetic risk in the pediatric population, part 2: congenital malformations of the central nervous system.

In this article, an update is presented of the correlation of imaging and genetic findings in congenital malformations of the central nervous system (CMCNS). A nonsystematic search of the PubMed/Medline database was performed. The congenital disorders were classified in 3 groups of malformation: ventral induction disorders, cortical malformations, and congenital malformations of the posterior fossa.

Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.

In this article, the genotype-MR phenotype correlation of the most common or clinically important inherited metabolic diseases (IMD) in the pediatric population is reviewed. A nonsystematic search of the PubMed/Medline database of relevant studies about "genotype-phenotype correlation" in IMD was performed. Some MR phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring POLG and SURF1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring GLRX5 gene mutation.

Reproducibility of quantitative fiber tracking measurements in diffusion tensor imaging of frontal lobe tracts: A protocol based on the fiber dissection technique.

Background: Diffusion tensor imaging (DTI)-based tractography is a noninvasive in vivo method for tracing white matter bundles. This raises possibilities for qualitative and quantitative assessment of the structural organization of tracts. Nevertheless, questions remain about neuroanatomical accuracy, reproducibility for clinical purposes, and accessibility of the best method for broader application.

Neuroimaging of Dandy-Walker malformation: new concepts.

Dandy-Walker malformation (DWM) is the most common human cerebellar malformation, characterized by hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and an enlarged posterior fossa with upward displacement of the lateral sinuses, tentorium, and torcular. Although its pathogenesis is not completely understood, there are several genetic loci related to DWM as well as syndromic malformations and congenital infections. Dandy-Walker malformation is associated with other central nervous system abnormalities, including dysgenesis of corpus callosum, ectopic brain tissue, holoprosencephaly, and neural tube defects.

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression.

In mucopolysaccharidosis I, deficiency of alpha-L-iduronidase can cause spinal cord compression (SCC) due to storage of glycosaminoglycans (GAGs) within the cervical meninges. As intravenous enzyme replacement therapy (ERT) is not likely to provide enzyme across the blood-brain barrier, standard treatment for this complication is usually surgical, which has a high morbidity and mortality risk. We report on the use of intrathecal (IT) laronidase in a MPS I patient with SCC who refused the surgical treatment.

White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up.

Purpose: To report the clinical and neuroimaging, central nervous system (CNS) findings of patients with Fabry disease (FD) during 24 months of enzyme replacement therapy (ERT) with agalsidase-alpha.

Method: Eight patients were included. Six completed 24 months of ERT.