Resting-state functional connectivity and cognitive dysfunction correlations in spinocerebelellar ataxia type 6 (SCA6).

OBJECTIVE: The aim of this study is to evaluate the correlation between resting state functional MRI (RS-fMRI) activity and motor and cognitive impairment in spinocerebellar ataxia type 6 (SCA6). METHODS: Twelve patients with genetically confirmed SCA6 and 14 age matched healthy controls were imaged with RS-fMRI. Whole brain gray matter was automatically parcellated into 1000 regions of interest (ROIs). For each ROI, the first eigenvariate of voxel time courses was extracted. For each patient, Pearson correlation coefficients between each pair of ROI time courses were calculated across the 1000 ROIs. The set of average control correlation coefficients were fed as an undirected weighted adjacency matrix into the Rubinov and Sporns (2010) modularity algorithm. The intranetwork global efficiency of the thresholded adjacency sub-matrix was calculated and correlated with ataxia scores and cognitive performance. RESULTS: SCA6 patients showed mild cognitive impairments in executive function and visual-motor processing compared to control subjects. These neuropsychological impairments were correlated with decreased RS functional connectivity (FC) in the attention network. CONCLUSIONS: Mild cognitive executive functions and visual-motor coordination impairments seen in SCA6 patients correlate with decreased resting-state connectivity in the attention network, suggesting a possible metric for the study of cognitive dysfunction in cerebellar disease. Hum Brain Mapp 38:3001-3010, 2017. © 2017 Wiley Periodicals, Inc.

Immunoglobulin-responsive chikungunya encephalitis: two case reports.

Chikungunya virus is an alphavirus transmitted by the mosquito Aedes, mainly Aedes aegypti and Aedes albopictus, that can cause acute illness, mostly self-limited, characterized by fever, maculopapular rash, and disabling polyarthritis/arthralgia, with an incubation period of 1 to 12 days. Chikungunya was largely regarded as a non-fatal and self-limited disease, but recently, serious cases have been reported including some with severe involvement of the nervous system, such as meningoencephalitis, myelitis, polyradiculitis, and polyradiculoneuropathy. In this report, we describe the clinical and laboratory findings of two patients with encephalitis associated with chikungunya in a northeastern city in Brazil, who exhibited a good outcome, with improvement after treatment with i.v. immunoglobulin (IVIg).

Safety and effectiveness of percutaneous sacroplasty: a single-centre experience in 58 consecutive patients with tumours or osteoporotic insufficient fractures treated under fluoroscopic guidance.

OBJECTIVE: To report our experience in percutaneous sacroplasty (PSP) for tumours and insufficiency fractures of the sacrum. METHODS: Single-centre retrospective analysis of 58 consecutive patients who underwent 67 PSPs for intractable pain from sacral tumours (84.5 %) or from osteoporotic fractures (15.5 %). The following data were assessed: visual analogue scale (VAS) before and after the procedure for global pain; short-term (1-month) clinical follow-up using a four-grade patient satisfaction scale (worse, unchanged, mild improvement and significant improvement); modification in analgesics consumption; referred short-term walking mobility. Minor and major complications were systematically assessed. RESULTS: The mean VAS score was 5.3 ± 2.0 in pre-procedure and 1.7 ± 1.8 in post-procedure. At 1-month follow-up, 34/58 (58.5 %) patients experienced a mild improvement; 15/58 (26 %) presented a significant improvement while 4/58 (7 %) and 5/58 (8.5 %) patients had unchanged or worse pain, respectively. Decreased analgesic consumption was observed in 34 % (20/58) of the patients. Eighty percent of patients with walking limitation experienced improvement, 16 % remained unchanged and 4 % were worse. We noted minor complications in 2/58 patients (3.4 %) and major complications in 2/58 patients (3.4 %). CONCLUSION: Percutaneous sacroplasty for metastatic and osteoporotic fractures is a safe and effective technique in terms of pain relief and functional outcome. KEY POINTS: • Percutaneous sacroplasty provides pain relief and functional improvement for insufficiency sacral fractures. • Percutaneous sacroplasty provides pain relief and function improvement for sacral tumours. • The major complication rate is acceptable (3.4 %), and is higher in sacral tumours. • Posterior wall/cortical sacral bone disruption is not statistically associated with more complications. • However, osteolytic tumours seem to be associated with higher risk of complications.

Long term maintenance of glucose and lipid concentrations after Roux-en-Y gastric bypass.

OBJECTIVE: Roux-en-Y gastric bypass (RYGB) reduces body weight and the comorbidities associated with obesity. The aim of this study was to evaluate whether glucose and lipid profiles were maintained during a 5-year follow-up period after RYGB. SUBJECTS AND METHODS: Anthropometric and laboratory data from 323 patients who had undergone this operation were analyzed. Differences in laboratory variables between the baseline and 12, 24, 36, 48 and 60 months postoperatively (PO) were assessed using a one-way ANOVA test to compare the three groups. Delta significance using one-way ANOVA was performed to assess anthropometric variable in the postoperative period (p < 0.05). RESULTS: 77 patients (24%) were included in Group 1 (G1), 101 (32%) in Group 2 (G2), and 141 (44%) in Group 3 (G3). The majority of patients, 71.7% in G1, 82.8% in G2, and 70% in G3, showed high triglycerides (TG) before surgery. A decrease in weight loss was observed in all groups followed by an increase in body weight in G2 and G3 at 36, 48 and 60 months. Laboratory results for G1, G2 and G3 showed no significant differences between groups at baseline and during the post-operative period. CONCLUSION: Our results suggest that weight regain after RYGB has no significant impact on the long-term evolution of the lipid profile and glycemia.

Imaging genetics paradigms in depression research: Systematic review and meta-analysis.

Imaging genetics studies involving participants with major depressive disorder (MDD) have expanded. Nevertheless, findings have been inconsistent. Thus, we conducted a systematic review and meta-analysis of imaging genetics studies that enrolled MDD participants across major databases through June 30th, 2017. Sixty-five studies met eligibility criteria (N = 4034 MDD participants and 3293 controls), and there was substantial between-study variability in the methodological quality of included studies. However, few replicated findings emerged from this literature with only 22 studies providing data for meta-analyses (882 participants with MDD and 616 controls). Total hippocampal volumes did not significantly vary in MDD participants or controls carrying either the BDNF Val66Met 'Met' (386 participants with MDD and 376 controls) or the 5-HTTLPR short 'S' (310 participants with MDD and 230 controls) risk alleles compared to non-carriers. Heterogeneity across studies was explored through meta-regression and subgroup analyses. Gender distribution, the use of medications, segmentation methods used to measure the hippocampus, and age emerged as potential sources of heterogeneity across studies that assessed the association of 5-HTTLPR short 'S' alleles and hippocampal volumes. Our data also suggest that the methodological quality of included studies, publication year, and the inclusion of brain volume as a covariate contributed to the heterogeneity of studies that assessed the association of the BDNF Val66Met 'Met' risk allele and hippocampal volumes. In exploratory voxel-wise meta-analyses, MDD participants carrying the 5-HTTLPR short 'S' allele had white matter microstructural abnormalities predominantly in the corpus callosum, while carriers of the BDNF Val66Met 'Met' allele had larger gray matter volumes and hyperactivation of the right middle frontal gyrus compared to non-carriers. In conclusion, few replicated findings emerged from imaging genetics studies that included participants with MDD. Nevertheless, we explored and identified specific sources of heterogeneity across studies, which could provide insights to enhance the reproducibility of this emerging field.

Encephalitis associated with the chikungunya epidemic outbreak in Brazil: report of 2 cases with neuroimaging findings.

Chikungunya, an alphavirus infection presenting with fever, rash, and polyarthritis, is most often an acute febrile illness. Neurologic complications of chikungunya infection have been reported. Here we report the clinical and neuroimaging data of 2 patients with chikungunya-associated encephalitis during the recent Brazilian epidemic.

The relationship between genetic risk variants with brain structure and function in bipolar disorder: A systematic review of genetic-neuroimaging studies.

Genetic-neuroimaging paradigms could provide insights regarding the pathophysiology of bipolar disorder (BD). Nevertheless, findings have been inconsistent across studies. A systematic review of gene-imaging studies involving individuals with BD was conducted across electronic major databases from inception until January 9th, 2017. Forty-four studies met eligibility criteria (N=2122 BD participants). Twenty-six gene variants were investigated across candidate gene studies and 4 studies used a genome-wide association approach. Replicated evidence (i.e. in >2 studies) suggests that individuals with BD carrying the BDNF Val66Met risk allele could have reduced hippocampal volumes compared to non-carriers. This review underscores the potential of gene-neuroimaging paradigms to provide mechanistic insights for BD. However, this systematic review found a single replicated finding. Suggestions to improve the reproducibility of this emerging field are provided, including the adoption of a trans-diagnostic approach.

Presumed Zika virus-related congenital brain malformations: the spectrum of CT and MRI findings in fetuses and newborns.

OBJECTIVE: The new epidemic of Zika virus infection raises grave concerns, especially with the increasingly-recognized link between emerging cases of microcephaly and this infectious disease. Besides small cranial dimensions, there are striking morphologic anomalies in the fetal brain. Key anomalies include cortical developmental malformations and a peculiar distribution of pathologic calcifications. These potentially indicate a new pattern of congenital central nervous system infection. METHODS: Eight women underwent fetal MRI. Four infants also underwent postnatal CT. Five of the women underwent amniocentesis. RESULTS: All neonates were born with microcephaly. On fetal MRI, ventriculomegaly, marked reduction of white matter thickness, severe sylvian fissure simplification, abnormal sulcation, and diffuse volumetric loss of cerebellar hemispheres were consistently seen. On postnatal CT, diffuse subcortical and basal ganglia calcifications were observed. The Zika virus was detected in two amniocenteses by polymerase chain reaction assays. CONCLUSION: We hope to assist the medical community in recognizing the spectrum of encephalic changes related to congenital Zika virus infection.

Hypothenar hammer syndrome: case report and literature review.

Case report of a 69 year-old patient, with history of repetitive trauma events in the wrist, clinically simulating tenosynovitis, being held with Doppler Ultrasound and Magnetic Nuclear Resonance, which showed ulnar artery thrombosis. The accurate diagnosis of the hammer hypothenar disease through those tests enable an early intervention, improving the prognosis of patients affected by this rare disease.

Long term maintenance of glucose and lipid concentrations after Roux-en-Y gastric bypass

Abstract Objective: Roux-en-Y gastric bypass (RYGB) reduces body weight and the comorbidities associated with obesity. The aim of this study was to evaluate whether glucose and lipid profiles were maintained during a 5-year follow-up period after RYGB. Subjects and methods: Anthropometric and laboratory data from 323 patients who had undergone this operation were analyzed. Differences in laboratory variables between the baseline and 12, 24, 36, 48 and 60 months postoperatively (PO) were assessed using a one-way ANOVA test to compare the three groups. Delta significance using one-way ANOVA was performed to assess anthropometric variable in the postoperative period (p < 0.05). Results: 77 patients (24%) were included in Group 1 (G1), 101 (32%) in Group 2 (G2), and 141 (44%) in Group 3 (G3). The majority of patients, 71.7% in G1, 82.8% in G2, and 70% in G3, showed high triglycerides (TG) before surgery. A decrease in weight loss was observed in all groups followed by an increase in body weight in G2 and G3 at 36, 48 and 60 months. Laboratory results for G1, G2 and G3 showed no significant differences between groups at baseline and during the post-operative period. Conclusion: Our results suggest that weight regain after RYGB has no significant impact on the long-term evolution of the lipid profile and glycemia.

Encephalitis associated with the chikungunya epidemic outbreak in Brazil: report of 2 cases with neuroimaging findings

Abstract Chikungunya, an alphavirus infection presenting with fever, rash, and polyarthritis, is most often an acute febrile illness. Neurologic complications of chikungunya infection have been reported. Here we report the clinical and neuroimaging data of 2 patients with chikungunya-associated encephalitis during the recent Brazilian epidemic.

Presumed Zika virus-related congenital brain malformations: the spectrum of CT and MRI findings in fetuses and newborns / Malformações congênitas do encéfalo presumivelmente relacionadas ao Zika vírus: espectro de achados de RM e TC em fetos e neonatos

ABSTRACT The new epidemic of Zika virus infection raises grave concerns, especially with the increasingly-recognized link between emerging cases of microcephaly and this infectious disease. Besides small cranial dimensions, there are striking morphologic anomalies in the fetal brain. Key anomalies include cortical developmental malformations and a peculiar distribution of pathologic calcifications. These potentially indicate a new pattern of congenital central nervous system infection. Methods: Eight women underwent fetal MRI. Four infants also underwent postnatal CT. Five of the women underwent amniocentesis. Results: All neonates were born with microcephaly. On fetal MRI, ventriculomegaly, marked reduction of white matter thickness, severe sylvian fissure simplification, abnormal sulcation, and diffuse volumetric loss of cerebellar hemispheres were consistently seen. On postnatal CT, diffuse subcortical and basal ganglia calcifications were observed. The Zika virus was detected in two amniocenteses by polymerase chain reaction assays. Conclusion: We hope to assist the medical community in recognizing the spectrum of encephalic changes related to congenital Zika virus infection.

RESUMO Os novos casos epidêmicos de infecção pelo vírus Zika suscitam grande preocupação, sobretudo com o crescente reconhecimento da ligação entre casos emergentes de microcefalia e esta doença infecciosa. Além da cabeça de pequenas dimensões, existem profundas alterações morfológicas no encéfalo fetal. Anomalias mais típicas incluem malformações do desenvolvimento cortical e uma distribuição peculiar de calcificações patológicas. Estes dados potencialmente indicam um novo padrão de infecção congênita do sistema nervoso central. Métodos: Oito mulheres foram submetidas a RM fetal. Quatro crianças também realizaram TC pós-natal. Cinco mulheres foram submetidas a amniocentese. Resultados: Todos os neonatos nasceram com microcefalia. Na RM fetal, ventriculomegalia, acentuada redução da espessura da substância branca, acentuada simplificação da fissura sylviana, sulcação anormal e redução volumétrica difusa dos hemisférios cerebelares foram constantes. Na TC pós-natal, calcificações difusas subcorticais e nos núcleos da base foram observadas. O vírus Zika foi detectado por PCR em duas amniocenteses. Conclusão: Esperamos dar suporte à comunidade médica em reconhecer este padrão de imagem potencialmente específico.

Persistent trigeminal artery: angio-tomography and angio-magnetic resonance finding.

The trigeminal artery (TA) is the most common embryonic carotid-vertebrobasilar anastomosis to persist into adulthood. It typically extends from the internal carotid artery to the basilar artery. Persistent primitive arteries are usually found incidentally, but are often associated with vascular malformation, cerebral aneurysm and, in case of TA, with trigeminal neuralgia. We present one patient with TA as a cause of trigeminal neuralgia and in other three as an incidental finding, on TC and MR angiograms.

Hypothenar hammer syndrome: case report and literature review / Síndrome do martelo hipotenar: relato de caso e revisão da literatura

Case report of a 69 year-old patient, with history of repetitive trauma events in the wrist, clinically simulating tenosynovitis, being held with Doppler Ultrasound and Magnetic Nuclear Resonance, which showed ulnar artery thrombosis. The accurate diagnosis of the hammer hypothenar disease through those tests enable an early intervention, improving the prognosis of patients affected by this rare disease.

Paciente de 69 anos, com história de traumas repetitivos no punho, simulando clinicamente tenossinovite, sendo feitas ultrassonografia com doppler e ressonância nuclear magnética, que evidenciaram trombose da artéria ulnar. O diagnóstico preciso da doença do martelo hipotenar por meio desses exames possibilita uma intervenção precoce e melhora o prognóstico dos pacientes acometidos por essa rara afecção.

Persistent trigeminal artery: angio-tomography and angio-magnetic resonance finding / Artéria trigeminal persistente: achado na angio-tomografia e angio-ressonância magnética

The trigeminal artery (TA) is the most common embryonic carotid-vertebrobasilar anastomosis to persist into adulthood. It typically extends from the internal carotid artery to the basilar artery. Persistent primitive arteries are usually found incidentally, but are often associated with vascular malformation, cerebral aneurysm and, in case of TA, with trigeminal neuralgia. We present one patient with TA as a cause of trigeminal neuralgia and in other three as an incidental finding, on TC and MR angiograms.

Artéria trigeminal (AT) é a anastomose carótido-vertebrobasilar mais comum a persistir na vida adulta. Tipicamente estende-se da artéria carótida interna até a artéria basilar. Artérias primitivas persistentes são usualmente um achado incidental, mas freqüentemente estão associadas a malformações vasculares, aneurismas e, no caso da AT, a neuralgia do trigêmio. Apresentamos um paciente com AT como causa de neuralgia do trigêmio e em outros três como um achado incidental, em angiogramas por tomomografia computadorizada e ressonância magnética.

Sarcoma granulocítico no ovário: relato de caso e achados na ressonância magnética / Ovarian granulocytic sarcoma: a case report and magnetic resonance imaging findings

Sarcoma granulocítico (cloroma) é um tumor de precursores mieloides em sítio extramedular. É complicação de leucemias mieloides agudas e crônicas. Apesar de poder surgir em qualquer lugar, envolvimento ovariano é raro. Relatamos um caso de tumor ovariano associado a leucemia mieloide aguda e seus achados de imagem na ressonância magnética.

Granulocytic sarcoma (chloroma) is a tumor consisting of myeloid precursors in an extramedullary site. It is complication of both acute and chronic myelogenous leukemias. Although the lesion can occur at any site, ovarian involvement is rare. We report a case ofovary tumor associated with acute myeloid leukaemia and its imaging appearance on magnetic resonance.

Curso de Reumatologia: aula 4: manifestações gastrointestinais nas colagenoses / Course of Rheumatology: class 4: gastrointestinal manifestations in collagenosis

O termo colagenose, surgido em 1942, é hoje substituído por doenças difusas do tecido conjuntivo, que se constituem em um grupo de moléstias que afetam o tecido conjuntivo, rico em colágeno. São enfermidades que podem comprometer vários sistemas e múltiplos órgãos, sendo, portanto, de caráter sistêmico. O objetivo desta aula é discutir as manifestações gastrointestinais e sua abordagem terapêutica. Serão focadas algumas doenças difusas do tecido conjuntivo, a saber: esclerose sistêmica, lúpis eritematoso sistêmico, dermatopolimiosite e Sjõgren.

The term "collagen diseases" was first introduced by Klemperer in 1942, and is currently been called connective tissue diseases. All the organ and systems are both affected by them, so that's why it can be called systemic diseases. The aim of this lesson is to discuss gastrointestinal manifestations and its therapeutic approach, while it will be detailed the connective tissue diseases like systemic sclerosis, systemic lupus erythematosus, polymyositis/dermatomyositis and Sjõgren's syndrome.

A fala da violência: um estudo psicanalítico sobre a violência / It says it of the violence: a study on the violence

Motivada por uma experiência de trabalho com menores infratores, a autora busca uma interlocução com a teoria psicanalítica em torno da temática da violência. Que contribuições podem advir de tal diálogo quando se circunscreve ao contexto do "mal-estar" crescente que vivenciamos na Cidade do Rio de Janeiro? Não se esgotando no aspecto social,a noção de violência é aqui desenvolvendo como "passagem ao ato", expressão utilizada por Lacan em seu ensino e encontrada com sutis diferenças na obra de Freud como "acts its out". O ato violento pode dar a impressão de responde às causas sociais, mas como fenômeno interente à constuição humana, visaria, no entender da Psicanálise, a solução de um impasse intersubjetivo (AU)

A fala da violência: um estudo psicanalítico sobre a violência / It says it of the violence: a study on the violence

Motivada por uma experiência de trabalho com menores infratores, a autora busca uma interlocução com a teoria psicanalítica em torno da temática da violência. Que contribuições podem advir de tal diálogo quando se circunscreve ao contexto do "mal-estar" crescente que vivenciamos na Cidade do Rio de Janeiro? Não se esgotando no aspecto social,a noção de violência é aqui desenvolvendo como "passagem ao ato", expressão utilizada por Lacan em seu ensino e encontrada com sutis diferenças na obra de Freud como "acts its out". O ato violento pode dar a impressão de responde às causas sociais, mas como fenômeno interente à constuição humana, visaria, no entender da Psicanálise, a solução de um impasse intersubjetivo (AU)