A multifaceted small RNA modulates gene expression upon glucose limitation in Staphylococcus aureus.

Pathogenic bacteria must rapidly adapt to ever-changing environmental signals resulting in metabolism remodeling. The carbon catabolite repression, mediated by the catabolite control protein A (CcpA), is used to express genes involved in utilization and metabolism of the preferred carbon source. Here, we have identified RsaI as a CcpA-repressed small non-coding RNA that is inhibited by high glucose concentrations. When glucose is consumed, RsaI represses translation initiation of mRNAs encoding a permease of glucose uptake and the FN3K enzyme that protects proteins against damage caused by high glucose concentrations. RsaI also binds to the 3' untranslated region of icaR mRNA encoding the transcriptional repressor of exopolysaccharide production and to sRNAs induced by the uptake of glucose-6 phosphate or nitric oxide. Furthermore, RsaI expression is accompanied by a decreased transcription of genes involved in carbon catabolism pathway and an activation of genes involved in energy production, fermentation, and nitric oxide detoxification. This multifaceted RNA can be considered as a metabolic signature when glucose becomes scarce and growth is arrested.

Deficits in Emotion Recognition as Markers of Frontal Behavioral Dysfunction in Amyotrophic Lateral Sclerosis.

OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with prominent motor symptoms. Patients with ALS may also manifest frontal behavior symptoms and cognitive decline, including impairment in facial emotion recognition. The authors aimed to investigate whether deficits in emotion recognition were associated with frontal behavior symptoms in ALS. METHODS: Participants were patients with probable or definite sporadic ALS (N=21; male:female ratio, 11:10; median age, 62 years; median disease duration, 3 years) and age-matched and education-matched healthy control subjects (N=25; male:female ratio, 14:11; median age, 61 years). The Facial Emotion Recognition Test (FERT) was administered to all participants. Patients with ALS were assessed using the Cambridge Behavior Inventory-Revised and were classified into two groups according to the presence of frontal behavioral symptoms: ALS with no behavioral symptom (ALSns; N=9) and ALS with at least one behavioral symptom (ALSbs; N=12). RESULTS: Apathy and mood symptoms were the most frequent neuropsychiatric symptoms in the patient group. Patients with ALS performed worse than control subjects in the recognition of sadness (p<0.004). There were no differences between control subjects and patients in the ALSns group in all FERT scores, but the ALSbs group had lower performance than control subjects in sadness (p<0.003). CONCLUSIONS: Emotion recognition deficit may be a marker of frontal behavior in ALS.

Checklist of Omophoita Chevrolat, 1836 (Coleoptera: Chrysomelidae: Galerucinae: Alticini) and diagnoses for some species from southern Brazil: notes on the taxonomic history, redescriptions and new records.

Morphological descriptions, taxonomic history and distribution data of Omophoita species recorded for southern Brazil (states of Paran, Santa Catarina and Rio Grande do Sul) are presented. Through the analysis of the existing literature, databases, loaned material, and specimen collecting, we studied seven species of Omophoita recorded for southern Brazil: O. communis (Bechyn 1959), O. equestris (Fabricius 1787), O. magniguttis (Bechyn 1955), O. octoguttata (Fabricius 1775), O. personata (Illiger 1807), O. sesquilunata (Klug 1829), and O. sexnotata (Harold 1876). We report O. sesquilunata for this region for the first time. Updated morphological descriptions, including novel information for male and female genitalia are presented for those taxa with dissected specimens.

Concentration, Propagation and Dilution of Toxic Gases in Underground Excavations under Different Ventilation Modes.

The drill-and-blast method is widely used for the excavation of hard rock tunnels. Toxic gases such as carbon monoxide and nitrogen oxides are released immediately after blasting by the detonation of explosives. To provide a safe working environment, the concentration of noxious gases must be reduced below the threshold limit value according to health and safety regulations. In this paper, one-dimensional mathematical models and three-dimensional CFD numerical simulations were conducted to analyze the concentration, propagation and dilution of the blasting fumes under different operating conditions. Forced, exhaust and mixed ventilation modes were compared to determine the safe re-entry times after blasting in a 200 m-long tunnel excavated using the top-heading-and-benching method. Based on the numerical simulations, carbon monoxide was the most critical gas, as it required a longer ventilation time to reduce its concentration below the threshold limit value. The safe re-entry time reached 480 s under the typical forced ventilation mode, but was reduced to 155 s when a mixed ventilation system was used after blasting, reducing the operating costs. The reduction of the re-entry time represents a significant improvement in the excavation cycle. In addition, the results obtained show that 1D models can be used to preliminary analyze the migration of toxic gases. However, to reliably determine the safe re-entry times, 3D numerical models should be developed. Finally, to verify the accuracy of the CFD results, field measurements were carried out in a railway tunnel using gas sensors. In general, good agreements were obtained between the 3D numerical simulations and the measured values.

Necrotising enterocolitis in newborns receiving diazoxide.

BACKGROUND: Frequent and severe gastrointestinal disturbances have been reported with the use of diazoxide in adults and older children. However, no studies have investigated the incidence of necrotising enterocolitis (NEC) in diazoxide-exposed newborns. OBJECTIVE: To evaluate a possible association between diazoxide treatment for neonatal hypoglycaemia and the occurrence of NEC. DESIGN: Multicentre retrospective cohort study. SETTING: Three tertiary neonatal intensive care units in Toronto, Canada. PATIENTS: All patients treated with diazoxide for persistent hypoglycaemia between July 2012 and June 2017 were included. Overall incidence of NEC during those years on the participating units was obtained for comparison from the Canadian Neonatal Network database. MAIN OUTCOME: Incidence of NEC after diazoxide exposure. RESULTS: Fifty-five neonates were exposed to diazoxide during the study period. Eighteen patients (33%) showed signs of feeding intolerance, and 7 developed NEC (13%). A diagnosis of NEC was more prevalent in the diazoxide-exposed, as compared with non-exposed infants of similar gestational age (OR 5.07, 95% CI 2.27 to 11.27; p<0.001), and greatest among infants born at 33-36 weeks' gestation (OR 13.76, 95% CI 3.77 to 50.23; p<0.001). All but one of the neonates diagnosed with NEC developed the disease within 7 days from initiation of diazoxide treatment. CONCLUSION: The present data suggest a possible association between diazoxide exposure and the development of NEC in neonates. Further evaluation of the diazoxide-associated risk of NEC in neonates treated for persistent hypoglycaemia is warranted.

Material Behavior and Fatigue Assessment of Old Steel Bridges of the Spanish Conventional Rail Network.

This work presented salient features of the steel behavior of seven metallic bridges close to, or over, 100 years old, among the Spanish conventional rail network as well as the results of a fatigue life expectancy study. A preliminary study of the properties of the constituent materials obtained from the bridges samples was carried out followed by dynamic fatigue tests under service representative loads. Due to the steelmaking techniques in the late 19th and early 20th centuries, disperse fatigue behavior results were obtained. However, the wide safety margins with which these bridges were designed, as well as the mechanical properties of the steel (relatively good mechanical resistance but with low ductility), seem to guarantee a long fatigue life. This estimate decreases sharply with increasing loads.

Treatment of Soil Contaminated by Mining Activities to Prevent Contamination by Encapsulation in Ceramic Construction Materials.

Mining is an essential activity for obtaining materials necessary for the well-being and development of society. However, this activity produces important environmental impacts that must be controlled. More specifically, there are different soils near new or abandoned mining productions that have been contaminated with potentially toxic elements, and currently represent an important environmental problem. In this research, a contaminated soil from the mining district of Linares was studied for its use as a raw material for the conforming of ceramic materials, bricks, dedicated to construction. Firstly, the contaminated soil was chemically and physically characterized in order to evaluate its suitability. Subsequently, different families of samples were conformed with different percentages of clay and contaminated soil. Finally, the conformed ceramics were physically and mechanically characterized to examine the variation produced in the ceramic material by the incorporation of the contaminated soil. In addition, in this research, leachate tests were performed according to the TCLP method determining whether encapsulation of potentially toxic elements in the soil occurs. The results showed that all families of ceramic materials have acceptable physical properties, with a soil percentage of less than 80% being acceptable to obtain adequate mechanical properties and a maximum of 70% of contaminated soil to obtain acceptable leachate according to EPA regulations. Therefore, the maximum percentage of contaminated soil that can be incorporated into the ceramic material is 70% in order to comply with all standards. Consequently, this research not only avoids the contamination that contaminated soil can produce, but also valorizes this element as a raw material for new materials, avoiding the extraction of clay and reducing the environmental impact.

Papez Circuit Gray Matter and Episodic Memory in Amyotrophic Lateral Sclerosis and Behavioural Variant Frontotemporal Dementia.

Amyotrophic lateral sclerosis and behavioural variant frontotemporal dementia are two different diseases recognized to overlap at clinical, pathological and genetic characteristics. Both conditions are traditionally known for relative sparing of episodic memory. However, recent studies have disputed that with the report of patients presenting with marked episodic memory impairment. Besides that, structural and functional changes in temporal lobe regions responsible for episodic memory processing are often detected in neuroimaging studies of both conditions. In this study, we investigated the gray matter features associated with the Papez circuit in amyotrophic lateral sclerosis, behavioural variant frontotemporal dementia and healthy controls to further explore similarities and differences between the two conditions. Our non-demented amyotrophic lateral sclerosis patients showed no episodic memory deficits measured by a short-term delayed recall test while no changes in gray matter of the Papez circuit were found. Compared with the amyotrophic lateral sclerosis group, the behavioural variant frontotemporal dementia group had lower performance on the short-term delayed recall test and marked atrophy in gray matter of the Papez circuit. Bilateral atrophy of entorhinal cortex and mammillary bodies distinguished behavioural variant frontotemporal dementia from amyotrophic lateral sclerosis patients as well as atrophy in left cingulate, left hippocampus and right parahippocampal gyrus. Taken together, our results suggest that sub-regions of the Papez circuit could be differently affected in amyotrophic lateral sclerosis and behavioural variant frontotemporal dementia.

CAG repeats ≥ 34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort.

Little is known about the genetic basis of amyotrophic lateral sclerosis (ALS) outside Europe and US. In this study, we investigated whether intermediate CAG expansions at ATXN1 were associated to ALS in the Brazilian population. To accomplish that, representative samples from 411 unrelated patients and 436 neurologically normal controls from 6 centers spread over the territory were genotyped to quantify ATXN1 expansions. We found that ATXN1 intermediate-length expansion (≥34 CAG repeats) are associated with the disease (odds ratio = 2.19, 95% CI = 1.081-4.441, p = .026). Most ATXN1-positive patients had classical phenotype, but some of them presented predominant lower motor neuron involvement. None of them had associated ataxia. Frontotemporal dementia was concomitantly found in 12.5% of patients carrying the intermediate ATXN1 expansion. Further studies are needed to validate these findings and to understand the pathophysiological mechanisms that connect ataxin-1 and ALS.

Risk factors for bad outcomes in incisional hernia repair: Lessons learned from the National Registry of Incisional Hernia (EVEREG). / Factores de riesgo de mala evolución en la reparación de hernias incisionales: Lecciones aprendidas del Registro Nacional de Hernia Incisional (EVEREG).

INTRODUCTION: Registries are powerful tools for identifying factors predicting bad results. Our objective was to analyse data from the Spanish Registry of Incisional Hernia (EVEREG) to detect risk situations for the development of complications and recurrences. METHODS: We have analysed data of the cohort of hernias registered during the period from July 2012 to June 2014. We have compared the data between complicated and non-complicated patients in the short and long term follow-up. Data compared were: patient demographics, comorbid condition, hernia defect characteristics and surgical technique to determine which of them may be predictors of poor outcomes. RESULTS: During the period of study, we collected data from 1,336 hernias (43.7% males; 56.3% females) with a mean age of 63.6 years (SD 12.4) and BMI of 30.4 (SD 5.4). In the multivariate analysis, factors associated with complications were: age >70 years, previous neoplasm, diameter greater than 10cm, previous repair and bowel resection. Factors related with recurrences were: parastomal hernia, previous repair, emergency repair, postoperative complications and reoperation. A separation of components was the only protective factor for this type of analysis (OR 0.438; CI 0.27-0.71; p=0.0001). CONCLUSIONS: Risk factors for the development of complications and recurrences must be considered for promoting preoperative patient prehabilitation, planning the surgical technique and referring patients to specialized abdominal wall units.

Longitudinal assessment of clinical and inflammatory markers in patients with amyotrophic lateral sclerosis.

OBJECTIVE: To evaluate potential associations between clinical features and inflammatory markers in patients with amyotrophic lateral sclerosis (ALS). METHODS: A consecutive series of 68 patients (39 males and 29 females) with sporadic ALS were subjected to a comprehensive clinical assessment and blood draw. A subset of these patients underwent a new assessment within 6-12 months after the baseline visit. In addition, a group of 62 subjects composed by age and sex-matched healthy subjects (38 males and 24 females) was enrolled in this study. Peripheral blood was drawn and plasma levels of chemokines and cytokines were measured by cytometric bead array and enzyme-linked immunosorbent assay. RESULTS: Our sample was composed by patients with ALS with an average age of 58 (±12.3) years old and 3 (±2.7) years of disease length at the baseline visit. Patients with ALS presented increased plasma levels of interleukin (IL)-6 and IL-8 in comparison with controls. After multivariate analysis, higher levels of IL-6 and lower levels of IL-2 were significantly associated with increased likelihood of ALS diagnosis. When evaluating the subset of patients assessed longitudinally, we did not find any significant difference in the levels of inflammatory markers between the two time points. Older age at ALS onset was the only factor associated with a faster rate of disease progression. CONCLUSIONS: IL-6 levels could discriminate between ALS and controls and may be regarded as a potential biomarker of ALS diagnosis. An increase in IL-2 levels was associated with a protective effect on the odds of ALS diagnosis. Older age at ALS onset predicted a fast rate of disease progression.

The frequency of the C9orf72 expansion in a Brazilian population.

G4C2 hexanucleotide repeat expansions in the C9orf72 gene seem to be the cause of numerous cases of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). In this study, we investigated the presence of the G4C2 repeat expansion in 463 Brazilian probands, of whom 404 had ALS/motor neuron disease and 67 FTD, and in 63 healthy controls in the southeastern region of Brazil. The highest frequencies of the C9orf72 mutation were in the ALS-FTD group (50% of familial and 17.6% of sporadic cases), although it was also present in 5% of pure ALS/motor neuron disease patients (11.8% of familial and 3.6% of sporadic cases) and in 7.1% of pure familial FTD. Among G4C2 repeat mutation carriers, 68.8% of the subjects who developed dementia symptoms were females. This frequency was significantly higher than the percentage reached by men with C9orf72 expansion who had this phenotype (p = 0.047). No abnormal repeat expansion was found in control groups. Inclusion of the C9orf72 genetic test in the molecular panels for Brazilian populations with these neurodegenerative diseases should be strongly considered.

Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients.

Intermediate-length cytosine-adenine-guanine nucleotide repeat expansions in the ATXN2 gene (which encodes for the protein Ataxin-2) have been linked to increased risk for amyotrophic lateral sclerosis (ALS) in different populations. There is no such study in the Brazilian population, which has a mixed ethnic background. We have thus selected 459 patients with ALS (372 Sporadic ALS and 87 Familial ALS) and 468 control subjects from 6 Brazilian centers to investigate this point. We performed polymerase chain reaction to determine the length of the ATXN2 alleles. Polymerase chain reaction products were resolved using capillary electrophoresis on ABI 3500 × l capillary sequencer. We found that ATXN2 intermediate-length expansions (larger than 26 repeats) were associated with an increased risk for ALS (odds ratio = 2.56, 95% confidence interval: 1.29-5.08, p = 0.005). Phenotype in patients with and without ATXN2 expansions was similar. Our findings support the hypothesis that ATXN2 plays an important role in the pathogenesis of ALS also in the Brazilian population.

Depression and anxiety in a case series of amyotrophic lateral sclerosis: frequency and association with clinical features.

Objective: To investigate the frequency of anxiety and depression and their association with clinical features of amyotrophic lateral sclerosis. Methods: This is a cross-sectional and descriptive study including a consecutive series of patients with sporadic amyotrophic lateral sclerosis according to Awaji's criteria. Patients underwent clinical and psychiatric assessment (anxiety and depression symptoms). Results: We included 76 patients. The men/women ratio was 1.6:1. Participants' mean age at disease onset was 55 years (SD±12.1). Sixty-six patients (86.8%) were able to complete psychiatric evaluation. Clinically significant anxiety was found in 23 patients (34.8%) while clinically significant depression was found in 24 patients (36.4%). When we compared patients with and without depression a significant difference was seen only in the frequency of anxiety symptoms (p<0.001). We did further analysis comparing subgroups of patients classified according to the presence or not of anxiety and or depression, without any significant difference regarding sex, age at onset, initial form, disease duration or functional measures. A positive correlation between anxiety and depressive symptoms was found (p<0.001). Conclusion: Anxiety and depressive symptoms were highly correlated and frequent in patients with amyotrophic lateral sclerosis. In addition, anxiety and depression were not associated with disease duration and presentation, sex, age at onset, and functional score. Objetivo: Investigar a frequência de ansiedade e depressão e sua associação com aspectos clínicos da esclerose lateral amiotrófica. Métodos: Estudo transversal e descritivo de uma série consecutiva de pacientes com esclerose lateral amiotrófica esporádica conforme os critérios de Awaji. Os pacientes foram submetidos à avaliação clínica e psiquiátrica (sintomas depressivos e ansiosos). Resultados: Foram incluídos 76 pacientes. A relação homem/mulher foi de 1,6:1. A média de idade de início dos sintomas foi de 55 anos (DP±12,1). Foram capazes de completar a avaliação psiquiátrica 66 (86,8%) pacientes. Ansiedade clinicamente significativa foi encontrada em 23 pacientes (34,8%), enquanto depressão clinicamente significativa foi encontrada em 24 pacientes (36,4%). Ao comparar os pacientes com e sem depressão, houve diferença significativa apenas na frequência de sintomas de ansiedade (p<0,001). Posteriormente, foram comparados subgrupos de pacientes categorizados em relação à presença ou não de ansiedade e/ou depressão, sem diferença significativa em relação a sexo, idade de início dos sintomas, forma inicial, duração da doença ou na escala funcional. Foi encontrada correlação positiva entre os sintomas de ansiedade e depressão (p<0,001). Conclusão: Sintomas de ansiedade e depressão são frequentes em pacientes com esclerose lateral amiotrófica e estiveram altamente correlacionados. Ansiedade e depressão não foram associadas com duração da doença, forma inicial, sexo, idade de início dos sintomas e pontuação na escala funcional.

Pharmacological inhibition of cannabinoid receptor 1 stimulates gastric release of nesfatin-1 via the mTOR pathway.

AIM: To determine whether Nucb2/nesfatin1 production is regulated by the cannabinoid system through the intracellular mTOR pathway in the stomach. METHODS: Sprague Dawley rats were treated with vehicle, rimonabant, rapamycin or rapamycin+rimonabant. Gastric tissue obtained from the animals was used for biochemical assays: Nucb2 mRNA measurement by real time PCR, gastric Nucb2/nesfatin protein content by western blot, and gastric explants to obtain gastric secretomes. Nucb2/nesfatin levels were measured in gastric secretomes and plasma using enzyme-linked immunosorbent assay. RESULTS: The inhibition of cannabinoid receptor 1 (CB1) by the peripheral injection of an inverse agonist, namely rimonabant, decreases food intake and increases the gastric secretion and circulating levels of Nucb2/nesfatin-1. In addition, rimonabant treatment activates mTOR pathway in the stomach as showed by the increase in pmTOR/mTOR expression in gastric tissue obtained from rimonabant treated animals. These effects were confirmed by the use of a CB1 antagonist, AM281. When the intracellular pathway mTOR/S6k was inactivated by chronic treatment with rapamycin, rimonabant treatment was no longer able to stimulate the gastric secretion of Nucb2/nesfatin-1. CONCLUSION: The peripheral cannabinoid system regulates food intake through a mechanism that implies gastric production and release of Nucb2/Nesfatin-1, which is mediated by the mTOR/S6k pathway.

Características sociodemográficas e histopatológicas en pacientes con cáncer gástrico en una población con alto riesgo en Colombia / Sociodemographic and histopathological characteristics of patients with gastric cancer in a high-risk population in Colombia

Resumen Objetivo: describir las características sociodemográficas e histopatológicas en pacientes con diagnóstico de adenocarcinoma gástrico en la Clínica Oncológica Aurora, durante el período 2014-2017 en la ciudad de Pasto, Colombia. Métodos: se realizó un estudio descriptivo en una cohorte de 54 pacientes con diagnóstico de cáncer gástrico sometidos a gastrectomía durante los años 2014 a 2017. La información sociodemográfica se obtuvo a través de la historia clínica. El sistema de Sydney y la clasificación de Lauren se usaron para determinar las características histopatológicas. Resultados: la mayoría de los tumores se presentó en hombres mayores de 50 años (relación hombre mujer de 2,6:1). La ubicación predominante fue la región antropilórica. El histotipo tumoral más frecuente fue el intestinal (80%). La prevalencia de Helicobacter pylori en pacientes fue del 24,07% y fue mayor en el histotipo intestinal. La metaplasia intestinal fue la lesión premaligna más prevalente en todos los histotipos tumorales. Conclusiones: en el presente estudio se encontró que la edad mayor a 50 años y el sexo masculino son condiciones asociadas con el cáncer gástrico; hallazgo ya demostrado en estudios previos. Es perentorio avanzar en el mejoramiento de las condiciones de salud pública, control de la infección por H. pylori y tamizaje temprano de lesiones premalignas, pues son factores determinantes en la carcinogénesis de pacientes con carcinomas no cardiales e histotipos intestinales ubicados en la región antrocorporal. Aunque no se encontraron diferencias significativas entre los histotipos tumorales, el adenocarcinoma de tipo intestinal ubicado en la región antropilórica fue el diagnóstico más frecuente.

Abstract Objective: To describe the sociodemographic and histopathological characteristics of patients diagnosed with gastric adenocarcinoma at the Clínica Oncológica Aurora between 2014 and 2017 in the city of Pasto, Colombia. Methodology: A descriptive study was carried out in a cohort of 54 patients diagnosed with gastric cancer who underwent gastrectomy between 2014 and 2017. Sociodemographic information was taken from the medical records of the patients. The Sydney system and Lauren classification were used to determine histopathological characteristics. Results: Most tumors were found in men older than 50 years (with a male:female ratio of 2.6:1). The predominant location was the antropyloric region. The most frequent tumor histotype was intestinal (80%). The prevalence of Helicobacter pylori in patients was 24.07 % and it was most commonly found in the intestinal histotype. Intestinal metaplasia was the most prevalent premalignant lesion in all tumor histotypes. Conclusions: The present study found that the age of 50 and the male sex are conditions associated with gastric cancer. This finding has already been demonstrated in previous studies. Progress in improving public health conditions, controlling H. pylori infection, and early screening of premalignant lesions is imperative, as they are determining factors of carcinogenesis in patients with non-cardia carcinomas and intestinal histotypes located in the anthrocorporal region. Although no significant differences were found among tumor histotypes, intestinal adenocarcinoma in the antropyloric region was the most frequent diagnosis.

Embolismo pulmonar masivo y trombo en ventrículo derecho postinfarto agudo de miocardio / Massive pulmonary embolism and right ventricle thrombus post-acute myocardial infarct

Resumen Introducción: un trombo en ventrículo derecho y embolismo pulmonar post infarto agudo de miocardio sin elevación del ST es muy inusual. Es considerado una emergencia médica y es imperativo instaurar una opción terapéutica inmediata. Presentación del caso: paciente femenina de 80 años quien consultó en sala de emergencias por síncope, dolor torácico y disnea persistente. Se confirmó síndrome coronario agudo por electrocardiograma y troponina I elevada. En estudios complementarios se encontró hallazgo incidental de trombo en el ventrículo derecho y un angio-TAC confirmó embolismo pulmonar masivo. Discusión: el trombo en ventrículo derecho y embolismo pulmonar masivo post infarto es un fenómeno muy raro en el escenario clínico, debido a la instauración temprana de la terapia anti-isquémica. Es necesario mayor investigación para aclarar este fenómeno.

Abstract Introduction: right ventricular thrombus and pulmonary embolism after acute myocardial infarction without ST elevation is very unusual. It is considered a medical emergency and it is imperative to establish an immediate therapeutic option. Case presentation: An 80-year-old female patient visited the emergency room for syncope, chest pain, and persistent dyspnea. Acute coronary syndrome was confirmed by electrocardiogram and elevated troponin I. In complementary studies, an incidental finding of a thrombus in the right ventricle was found and a CT angiography confirmed massive pulmonary embolism. Discussion: thrombus in the right ventricle and massive post-infarction pulmonary embolism is a very rare phenomenon in the clinical setting due to the early introduction of anti-ischemic therapy. More research is needed to clarify this phenomenon.

Amyotrophic lateral sclerosis in Brazil: Case series and review of the Brazilian literature.

Our objective was to systematically analyse the first series of cases of amyotrophic lateral sclerosis (ALS) in Minas Gerais and to review the Brazilian literature about clinical studies in ALS. This was a cross-sectional and descriptive study of a consecutive series of patients with probable or defined sporadic ALS according to the Awaji criteria, followed at two referral centres of Belo Horizonte (South-east Brazil). Patients underwent full clinical assessment. Comparisons of patient subgroups according to disease duration and initial presentation were performed. A systematic review was performed about Brazilian clinical studies in ALS. Results showed that of the 61 enrolled patients the male/female ratio was 1.6:1. The mean age at onset of symptoms was 54.9 years (SD ± 11.4). Mean age at diagnosis was 56.3 years (SD ± 11.1). Regarding the initial form of presentation, 43 cases (70.5%) were spinal, 12 cases (19.7%) were generalized and six cases (9.8%) were bulbar. Eight studies were found in the systematic review. In conclusion, the profile of our sample was similar to other national and international series, except for fewer cases of bulbar ALS in our series. There are few clinical studies of ALS in Brazil. The national data of prevalence and incidence are still uncertain.

C9ORF72 and the FTD-ALS spectrum: A systematic review of neuroimaging studies.

OBJECTIVE: To perform a systematic review of the literature on the neuroimaging investigation of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) associated with C9ORF72 mutation. METHODS: The search was performed on PubMed and LILACS with the following terms: C9ORF72, MRI, SPECT, PET, ALS, FTD. No filters were added. RESULTS: Twenty articles were selected. Most studies found consistent involvement of frontotemporal regions in C9ORF72 carriers, including prefrontal cortex, and also cingulate, subcortical regions, especially the thalami, and posterior regions such as the parietal and occipital lobes. Functional connectivity was also explored and impaired sensorimotor connectivity in striatum and thalami was found in behavioral variant FTD C9ORF72 carriers. Some papers have reported an absence of significant abnormalities on brain imaging. CONCLUSION: The inclusion of patients at different stages of the disease, differences in neuroimaging methods across studies, and distinct clinical phenotypes associated with C9ORF72 may account for the heterogeneity of results.

OBJETIVO: Realizar uma revisão sistemática da literatura sobre os estudos de neuroimagem da demência frontotemporal (DFT) e esclerose lateral amiotrófica (ELA), associadas à mutação C9ORF72. MÉTODOS: A pesquisa foi realizada nas bases PubMed e LILACS com os seguintes termos: C9ORF72, MRI, SPECT, PET, ALS, FTD. Nenhum filtro foi utilizado. RESULTADOS: Vinte artigos foram incluídos. A maioria dos estudos encontrou, nos portadores da expansão C9ORF72, envolvimento significativo das regiões frontotemporais, incluindo o córtex pré-frontal e também o cíngulo, regiões subcorticais (especialmente o tálamo) e regiões posteriores, como os lobos parietal e occipital. A conectividade funcional também foi investigada e disfunção sensório-motora foi demonstrada no estriado e no tálamo em pacientes com a variante comportamental da DFT associada à expansão C9ORF72. Alguns trabalhos não evidenciaram alterações significativas na neuroimagem. CONCLUSÃO: A inclusão de pacientes em diferentes estágios da doença, a variabilidade dos métodos de neuroimagem utilizados nos estudos e os distintos fenótipos de C9ORF72 podem contribuir para a heterogeneidade dos resultados.