Aspects of cognitive assessments and spectroscopic magnetic resonance imaging in people with chronic hepatitis C: a systematic review.

Extrahepatic manifestations are common in people with hepatitis C virus (HCV). Cognitive changes are pointed out, but the mechanisms are still uncertain. The aim of this systematic review was to analyze studies involving spectroscopic magnetic resonance in people infected with HCV, which also included cognitive tests. The research occurred in six databases (Directory of Open Access Journals, Lilacs, Medcaribe, Medline, Scielo and ScienceDirect) and the selection of studies was carried out in two stages: search for titles and abstracts, then reading of the full articles, excluding those that did not meet the eligibility criteria. 12,888 titles and abstracts were selected, but only 6 articles were included in the review. Impairments in attention, concentration, speed of information processing, memory, verbal fluency and executive functions were identified as well as an increase in the Cho/Cr and mI/Cr ratios and a reduction in the NAA/Cr ratio in some included studies. Longitudinal studies, with more homogeneous samples and methods, as well as with better controlled confounding factors, are necessary to adequately identify the effect of HCV on the brain.

HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.

BACKGROUND: Recessive loss-of-function mutations in HINT1 are associated with predominantly motor axonal peripheral neuropathy with neuromyotonia. Twenty-four distinct pathogenic variants are reported all over the world, including four confirmed founder variations in Europe and Asia. The majority of patients carry the ancient Slavic founder variant c.110G>C (p.Arg37Pro) that shows a distribution gradient from east to west throughout Europe. METHODS: We report a case of HINT1 neuropathy in South America, identified by massive parallel sequencing of a neuropathy gene panel. To investigate the origin of the variant, we performed haplotyping analysis. RESULTS: A Brazilian adolescent presented with recessive axonal motor neuropathy with asymmetric onset and fasciculations. Neuromyotonia was found on needle electromyography. His parents were not consanguineous and had no European ancestry. The patient carried biallelic pathogenic p.Arg37Pro alterations in the first exon of HINT1. Both alleles were identical by descent and originated from the same ancestral founder allele as reported in Europe. CONCLUSION: Our findings expand the geographic distribution of HINT1 neuropathy to South America, where we describe a recognized founder variant in a Brazilian adolescent with no apparent European ancestry. We confirm the association of the hallmark sign of neuromyotonia with the disease.

The Relationship between Restless Legs Syndrome and Quality of Life in Patients with Myasthenia Gravis.

BACKGROUND: Restless legs syndrome (RLS) is characterized for an uncomfortable sensation in legs and an irresistible desire to move them. This disorder has been more recently recognized in patients with myasthenia gravis (MG) and can interfere with the quality of life (QOL). OBJECTIVES: The aims of this study are to describe the prevalence of RLS and its severity and influence on the QOL in patients with MG. METHOD: This was a cross-sectional study conducted from May to June 2016 in Recife, Brazil. A sample of 42 patients was interviewed using a sociodemographic questionnaire, MG QOL questionnaire-15 and The RLS Rating Scale. RESULTS: RLS was present in 47.6% of patients and of these 40.5% met moderate to severe RLS criteria. Patients were 45 years on average (SD ± 14.4) and women represented 57.1% of the study population. Among patients with RSL, the quality-of-life scores were worse (p = 0.010) on average. There was no association of RLS with the duration of MG, use of immunosuppressant or clinical conditions that could mimic the occurrence of RLS. CONCLUSION: RLS is a prevalent condition in patients with MG, and may be severe enough to negatively impact QOL.

Middle cerebral artery extension and the risk for aneurysmal disease.

The intracranial artery aneurysm is an abnormal dilatation at the wall and the most serious complication is its rupture that is associated with high rates of neurological mortality and morbidity. Its most common location in arterial bifurcations suggests that the hemodynamic of blood flow plays a key role, but the effect of the length of the M1 segment of the middle cerebral artery is poorly explored. We analyzed biplanar brain angiograms to measure the extent of the M1 segment and its relationship to the presence of aneurysm at the bifurcation. Of 475 patients, a total of 682 bilateral measurements were analyzed. Women accounted for 58.7% and the mean age was 50.2 ±â€¯15.5. Aneurysms were detected in 45 arteries, about the average length of the M1 artery; the right segment measure (2.98 ±â€¯0.99 cm) was statistically lesser than the left (3.09 ±â€¯1.38 cm). Applying the regression coefficient, arteries with aneurysm have an average length of 0.419 cm smaller than an artery without aneurysm, and this difference was statistically significant (p < 0.05). Though the wall shear stress component is a proven risk factor for the development of aneurysms in bifurcations, a smaller extension of the M1 segment may also be implicated in its development.

Cerebral toxoplasmosis in patients with acquired immune deficiency syndrome in the neurological emergency department of a tertiary hospital.

INTRODUCTION: Cerebral toxoplasmosis is the most common cause of space occupying brain lesion in patients with HIV/AIDS in Brazil. In the post-HAART era, it is responsible for high rates of morbidity and mortality worldwide. MATERIALS AND METHODS: This study consists of a case series of 56 patients diagnosed with cerebral toxoplasmosis whose clinical features, brain imaging and cerebrospinal fluid aspects were analyzed. RESULTS: Cerebral toxoplasmosis led to the diagnosis of infection by the human immunodeficiency virus (HIV) in 27 (48.2%) of the patients, while 29 (51.2%) others already knew to be HIV seropositive. However, at the time of diagnosis of cerebral toxoplasmosis, only 9 (16.6%) reported being under antiretroviral therapy and 5 (8.9%) were receiving primary prophylaxis for toxoplasmosis. Headache, strength deficit and fever were the most frequent signs and symptoms throughout the study. Fifty-three patients showed changes consistent with toxoplasmosis in CT or MRI. Thirty-four (60.7%) CSF samples were positive in the indirect haemagglutination test and for the reaction of Toxoplasma gondii IgG ELISA, while 31 (55.4%) were positive in the direct haemagglutination test. Fifty (89.3%) patients underwent first-line treatment for toxoplasmosis. CONCLUSION: Cerebral toxoplasmosis is still a very relevant neurological disease in individuals with AIDS admitted to neurology emergency departments. Early diagnosis and initiation of empiric treatment and antiretroviral therapy are important for good prognosis.

Nested polymerase chain reaction in cerebrospinal fluid for diagnosing spinal cord schistosomiasis: A promising method.

INTRODUCTION: Spinal cord schistosomiasis is a neglected, disabling neurological disease commonly identified in patients from northeast Brazil. The methods currently available for its diagnosis need improvement. PCR in feces and urine is a sensitive diagnostic tool for diagnosis of schistosomiasis, but its value in the cerebrospinal fluid (CSF) is still unknown. OBJECTIVE: The objective of this study was to detect Schistosoma mansoni DNA in CSF from patients with spinal cord schistosomiasis, using the nested PCR (NPCR) assay. METHODS: This was a cross-sectional study carried out from March 2013 to January 2014 at the Aggeu Magalhães Research Center/FIOCRUZ (Pernambuco state, Brazil). NPCR was used to detect Schistosoma mansoni DNA in CSF samples from 20 patients with spinal cord schistosomiasis and 30 controls. RESULTS: NPCR was positive in 16 patients with spinal cord schistosomiasis and none from the control group (sensitivity 80%; specificity 100%, positive predictive value 100%; negative predictive value 88.2%). CONCLUSION: The NPCR technique is highly sensitive and specific for diagnosis of spinal cord schistosomiasis and can be an important diagnostic tool, particularly in cases with negative CSF serology.

Cerebral toxoplasmosis: unusual MRI findings.

BACKGROUND: Single cerebral toxoplasmic lesions are rarely explored. METHODS: Through magnetic resonance imaging, 10 lesions were analyzed regarding location, signal intensity, contrast enhancement, eccentric target, and meningeal uptake. RESULTS: Five lesions were corticosubcortical and in the deep three (60%) had infratentorial locations. Iso- or hypointense signal predominated in T1 sequence, but in T2, there was variability. Perilesional edema and ring contrast enhancement occurred in 100% of lesions, but eccentric targets and meningeal uptake were less frequent. CONCLUSION: Even in the presence of single lesions, iso- or hypointense signal in T1, perilesional edema, and ring enhancement are suggestive of cerebral toxoplasmosis.