Search

Background Although the Fontan operation has contributed greatly to the improvement of survival in patients with a single ventricle, cardiac function and exercise capacity may deteriorate over time. However, there have been no quantitative analyses of the effects of Fontan circulation on myocardial work (MW). Recently, a novel non-invasive method for calculating MW has been introduced on the basis of speckle tracking analysis with the estimation of left ventricular (LV) pressure from brachial artery cuff pressure. Purpose Aim of this study was to evaluate the diagnostic performance of the non-invasive myocardial work indices in predicting subclinical myocardial work impairment in Fontan patients. Methods A total of 69 patients were included and compared with healthy age- and sex- matched controls (CTRL). Ventricular systolic function and global longitudinal strain (GLS) were assessed. Cardiopulmonary exercise test was performed. Global myocardial work index (MWI) was calculated as the area of the LV pressure strain loops. From MWI, global constructive work (MCW), wasted work (MWW) and work efficiency (MWE) were estimated. Results The two groups were comparable for blood pressure, weight and height. Mean age of Fontan patients was 21.0±9.2 years. MWI (1162 ± 364 mmHg% vs 1777 ± 240 mmHg%, p < 0.001), MCW (1554 ± 450 mmHg% vs 2102 ± 221 mmHg%, p = 0.001) and MWE (90 ± 6% vs 96 ± 2% p = 0.001) were significantly reduced in Fontan patients compared with healthy CTRL. Moreover, GLS (-13,9 ± 3,1% vs -21,2 ± 1.5%, p < 0.001) and the ejection fraction (EF) (58,9 ± 4.5% vs 63.3 ± 3.9%, p < 0.002) were significantly lower in Fontan patients. Fontan patients with normal EF showed, however, significantly reduced values of MWI compared with CTRL (p Fontan patients with functional right ventricle showed significantly reduced MWE compared with patients with functional left ventricle (p=0.030). In univariate analysis, peak VO2 was significantly associated with age, SatO2, MWI. In multivariate regression, lower peak VO2 was associated with older age (p = 0.003) and lower MWI (p = 0.026). Conclusions Fontan physiology is associated with disadvantageous ventricular work. In Fontan patients, estimation of MWI may be a more sensitive indicator of myocardial work impairment compared with EF and is able to predict exercise capacity.

Hepatoblastoma (HB) and hepatocellular carcinoma (HCC) are the predominant liver cancers in children, though their respective treatment options and associated outcomes differ dramatically. Risk stratification using a combination of clinical, histological, and molecular parameters can improve treatment selection, but it is particularly challenging for tumors with mixed histological features, including those in the recently created hepatocellular neoplasm not otherwise specified (HCN NOS) provisional category. We aimed to perform the first molecular characterization of clinically annotated cases of HCN NOS.We tested whether these histological features are associated with genetic alterations, cancer gene dysregulation, and outcomes. Namely, we compared the molecular features of HCN NOS, including copy number alterations, mutations, and gene expression profiles, with those in other pediatric hepatocellular neoplasms, including HBs and HCCs, as well as HBs demonstrating focal atypia or pleomorphism (HB FPAs), and HBs diagnosed in older children (8).Molecular profiles of HCN NOS and HB FPAs revealed common underlying biological features that were previously observed in HCCs. Consequently, we designated these tumor types collectively as HBs with HCC features (HBCs). These tumors were associated with high mutation rates (∼3 somatic mutations/Mb) and were enriched with mutations and alterations in key cancer genes and pathways. In addition, recurrent large-scale chromosomal gains, including gains of chromosomal arms 2q (80%), 6p (70%), and 20p (70%), were observed. Overall, HBCs were associated with poor clinical outcomes.Our study indicates that histological features seen in HBCs are associated with combined molecular features of HB and HCC, that HBCs are associated with poor outcomes irrespective of patient age, and that transplanted patients are more likely to have good outcomes than those treated with chemotherapy and surgery alone. These findings highlight the importance of molecular testing and early therapeutic intervention for aggressive childhood hepatocellular neoplasms.We molecularly characterized a class of histologically aggressive childhood liver cancers and showed that these tumors are clinically aggressive and that their observed histological features are associated with underlying recurrent molecular features. We proposed a diagnostic algorithm to identify these cancers using a combination of histological and molecular features, and our analysis suggested that these cancers may benefit from specialized treatment strategies that may differ from treatment guidelines for other childhood liver cancers.

The helminths belonging to the class Trematoda have great importance in ichthyoparasitology, and the subclass Digenea includes parasites with zoonotic potential. The family Heterophyidae is responsible for the heterophyiasis and, in Brazil, this disease is caused by the trematode genera Ascocotyle (Phagicola), commonly known as phagicolosis, both related to the fish-to-birds/mammals cycle. Clinostomum (belonging to the family Clinostomidae) has its larval stage in fish musculature and piscivorous birds as definitive hosts. It may parasitize humans accidentally, causing parasitic laryngopharyngitis and death by asphyxia. This study aims to quantify the presence of digenetic Heterophyidae and Clinostomidae parasites with zoonotic potential in fish from the Tramandai River basin, in the state of Rio Grande do Sul, Brazil. The fish were purchased from fishermen from Terra de Areia/RS, from July 2016 to May 2017. The search for parasites was carried out by performing a necropsy on the fish. The digenetic parasites were preserved, stained and mounted on microscope slides for identification. Parasitological indices were calculated. Astyanax spp. Were positive for Ascocotyle whereas Geophagus brasiliensis was infected by Clinostomum sp. Therefore, the results suggest a risk of infection to the consumer population in the region.

Parasitic nematodes can infect both wild and cultivated fish species and may be the source of many diseases. The consumption of raw fish meat in many countries has been the responsible of nematode related zoonosis. Knowing the risk of consumption of contaminated fish by the local communities, the main goal of this paper is to quantify and report the presence of larvae with zoonotic potential of Contracaecum spp. and Eustrongylides spp. found in two exotic fish species from the Tramandaí­­ River Basin in southern Brazil. The sample sites were two lagoons of the basin, the Itapeva lagoon and Palmital lagoon, sampled in the period of April 2018. Forty specimens of Acestrorhynchus pantaneiro and twenty specimens of Trachelyopterus lucenai were examined. A. pantaneiro presented a 58% and 4% prevalence and a mean intensity of 3.17 and 1 for Contracaecum spp. and Eustrongylides spp., respectively. Meanwhile T. lucenai presented a prevalence of 70% and 5% and a mean intensity of 1.92 and 1 of Contracaecum spp. larvae and Eustrongylides spp. larvae, respectively. Although larvae of Contracaeucum spp. are reported only in the literature in experimental infections, they were able to complete their biological cycle in some mammals with certain pathogeneses. However, larvae of Eustrongylides spp. infect humans, as reported in the literature, causing severe damage to the intestinal tract. Knowing that local populations may be at risk, we recommend that all prophylactic measures be taken in relation to fish consumption. This study also contributes to the knowledge concerning the parasitic fauna of the host species studied.

Background: Vitamin D is known to influence the immune system in many different diseases although longitudinal studies on systemic sclerosis (SSc) are still missing. Objectives: this study wants to investigate if variations in vitamin D serum levels (25OHD) over time affect digital ulcers (DU) in SSc. Methods: this is a retrospective study on 65 patients. Data on disease characteristics and 25OHD were collected in 2011 and 2016. Results: The mean age of our cohort was 58 (12) years with a mean disease duration of 9.5 (5.3) years. Most of our patients had a limited subset (69.2%). At baseline 50.8% and 41.5% after 5 years had 25OHD Conclusion: In this study we have shown that a decrease in 25OHD increases the risk of developing DUs and that vitamin D supplementation with the doses currently recommended may be insufficient in SSc. Further studies in wider cohorts are needed to confirm these results and to evaluate the effectiveness of a more aggressive or different vitamin D supplementation. Disclosure of interests: Cristian Caimmi: None declared, Eugenia Bertoldo: None declared, alice Pozza: None declared, Paola Caramaschi: None declared, Giovanni Orsolini Speakers bureau: Grunenthal, Davide Gatti Speakers bureau: abiogen, amgen, Janssen-Cilag, Mundipharma, Pfeizer, Maurizio Rossini: None declared, Ombretta Viapiana Speakers bureau: Novartis, abbvie, Eli-Lilly, Sanofi Genzyme

Aposematismo e um mecanismo anti-predacao que ocorre quando os animais exibem sinais conspicuos, que sao frequentemente padroes de coloracao chamativa, para alertar predadores potenciais da sua impalatabilidade ou toxicidade. O objetivo deste trabalho foi testar (num curto periodo) a eficiencia da coloracao aposematica, atraves da comparacao da predacao por vertebrados em modelos de serpente com e sem coloracao de alerta no corpo. Para simular serpentes, nos confeccionamos 80 modelos de serpente utilizando massa modelavel de coloracao esverdeada. Metade dos modelos possuiam uma listra vermelha na parte dorsal do corpo, imitando uma coloracao aposematica. A outra metade dos modelos possuia apenas a coloracao esverdeada. Os modelos ficaram expostos aos predadores por 12 horas em uma area com vegetacao campestre. Entre os 20 modelos predados, 65% foram modelos que possuiam apenas a coloracao esverdeada e 35% foram modelos com a listra vermelha no dorso. Os ataques nas extremidades (cabeca e cauda) foram significativamente mais frequentes nos modelos com coloracao vermelha. Nossos resultados sugerem a eficiencia da coloracao vermelha como sinal de alerta e mecanismo anti-predacao, visto que os modelos que imitavam presas aposematicas foram menos predados e atacados preferencialmente nas extremidades, o que sugere precaucao por parte do predador.

Rhamdia quelen e um peixe de agua doce com habito alimentar onivoro. Ocorre desde o sudeste do Mexico ate o sul da Argentina. Sao peixes que apresentam boa adaptacao em viveiros de piscicultura, com excelente aceitacao no mercado consumidor. Com o aumento da aquicultura no Brasil e no mundo, o estudo sobre parasitos de peixes tem aumentado, pois alem de causarem mortalidade dos peixes, algumas especies apresentam potencial zoonotico. O objetivo do trabalho foi identificar parasitos e descrever os locais de infeccao destes em R. quelen comercializados no sul do Brasil. Foram necropsiados 50 especimes adquiridos em peixarias, utilizando tecnicas especificas para coleta e identificacao de parasitos. A prevalencia de parasitismo foi de 64% (32/50), sendo 50% por parasitos da classe Digenea. Clinostomum complanatum o mais prevalente (40%), seguido de Tylodelphys cf. destructor (10%), Acanthostomum sp. (8%) e Genarchella sp. (4%). A ocorrencia desses parasitos foi maior na musculatura, seguido de gonadas e coracao. A prevalencia de Nematoda foi de 42%, sendo identificadas larvas de Contracaecum sp. em 24% e Hysterothylacium sp. em 22% dos peixes. O orgao mais parasitado foi o intestino, seguido do estomago. Diante dos resultados, conclui-se que o elevado parasitismo encontrado em R. quelen comercializado em Pelotas apresenta significativo potencial zoonotico, advindo dos helmintos C. complanatum e Contracaecum. Sendo assim, alerta-se para os riscos da ingestao deste peixe cru ou mal-cozido, bem como a perdas economicas a piscicultura advindas da infeccao de R. quelen por esses parasitos.