Systematic Review of Emotion Detection with Computer Vision and Deep Learning.

Emotion recognition has become increasingly important in the field of Deep Learning (DL) and computer vision due to its broad applicability by using human-computer interaction (HCI) in areas such as psychology, healthcare, and entertainment. In this paper, we conduct a systematic review of facial and pose emotion recognition using DL and computer vision, analyzing and evaluating 77 papers from different sources under Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Our review covers several topics, including the scope and purpose of the studies, the methods employed, and the used datasets. The scope of this work is to conduct a systematic review of facial and pose emotion recognition using DL methods and computer vision. The studies were categorized based on a proposed taxonomy that describes the type of expressions used for emotion detection, the testing environment, the currently relevant DL methods, and the datasets used. The taxonomy of methods in our review includes Convolutional Neural Network (CNN), Faster Region-based Convolutional Neural Network (R-CNN), Vision Transformer (ViT), and "Other NNs", which are the most commonly used models in the analyzed studies, indicating their trendiness in the field. Hybrid and augmented models are not explicitly categorized within this taxonomy, but they are still important to the field. This review offers an understanding of state-of-the-art computer vision algorithms and datasets for emotion recognition through facial expressions and body poses, allowing researchers to understand its fundamental components and trends.

Routine left atrial appendage occlusion in patients undergoing cardiac surgery: a narrative review.

PURPOSE OF REVIEW: New evidence suggests a greater prevalence of protracted postoperative atrial fibrillation (POAF) than previously recognized. The left atrial appendage (LAA) is the most common source of embolism in patients with nonvalvular atrial fibrillation. In this review, we ask whether there is evidence to support routine LAA occlusion (LAAO) in patients without preexisting atrial fibrillation undergoing cardiac surgery. RECENT FINDINGS: Overall, available studies are small, inconsistent and have varying proportions of patients with and without preexisting atrial fibrillation. There is considerable discrepancy with respect to the efficacy of LAAO in reducing the risk of POAF-related stroke. Only one study reported a lower rate of stroke in the LAAO group compared with no LAAO. Two studies included a subgroup analysis of patients that developed POAF and report a significantly higher rate of stroke in patients that developed POAF and did not undergo LAAO. There are three clinical trials ongoing that are investigating prophylactic LAAO in patients undergoing cardiac surgery: ATLAS, LAA-CLOSURE and LAACS-2. SUMMARY: There is currently insufficient evidence to recommend routine addition of LAAO to lower the risk of postoperative stroke. Ongoing clinical trials will provide important insight into the role of routine LAAO in all patients undergoing cardiac surgery.

Acquisition of robotic surgical skills does not require laparoscopic training: a randomized controlled trial.

BACKGROUND: Robotic surgery is a valid option for minimally invasive surgery in most surgical specialties. However, the need to master laparoscopy is questionable before starting specific training in robotic surgery. We compared the development of basic robotic surgery skills between individuals randomized to train in conventional, laparoscopic, or robotic skills. METHODS: We conducted a single-centered, single-blinded randomized trial. Medical students were randomly assigned to 20 h of conventional, laparoscopic, or robotic surgical training. Students with previous surgical experience were excluded. Participants were evaluated pre- and post-training on the dV-Trainer robotic surgical simulator with the following exercises: Camera Targeting 1, Peg Board 1, Ring and Rail 1, and Ring and Rail 2. RESULTS: Sixty-six students were randomly assigned to each training group. Eight individuals did not complete the study (2 in the conventional group, 3 in the laparoscopic group, and 3 in the robotic group). All groups demonstrated significant improvement in the composite score and in each task following the training period (p < 0.001). No differences were seen between the conventional and laparoscopic groups in the composite score or individual tasks. The robotic group showed greater improvement in number of errors, economy of motion, workspace utilization, and time for completion compared to the other groups. The laparoscopic group showed improved camera manipulation skills compared to the conventional group, while the conventional group showed improved errors and economy of motion compared to the laparoscopic group. CONCLUSION: There was no difference in the acquisition of basic robotic surgical skills between individuals trained in basic conventional or laparoscopic surgical skills. We believe surgeons mastery in laparoscopy is not needed before initiating robotic surgical training. However, basic principles of laparoscopy remain applicable to robotic surgery. Future studies should compare transferability of conventional and laparoscopic training to robotic skills in the operating room.

Study of salt-induced changes in the Leptinito Gneiss of a column from the Mosteiro de São Bento in Rio de Janeiro, Brazil.

The object of this study can be found among the various ornamental rocks used in historic buildings in the city of Rio de Janeiro. It is a degraded Leptinito Gneiss that makes up one of the support columns of the kitchen of the Mosteiro de São Bento (Monastery of Saint Benedict) in Rio de Janeiro. The main aim of the present study is to identify the causes of the high degree of degradation of said column. Non-destructive tests were performed, and laboratory evaluation of the disintegrated fragments may help restore and conserve this column in the future. Results obtained from the tests performed on the altered column were compared to those obtained from another column in the monastery, also built in Leptinito, which is more intact and is a sound Leptinito Gneiss. The results showed that degradation of the column is caused by the crystallization of salts (halite) inside the rock, which is reducing its mechanical strength and causing an imminent risk of collapse.

Do Fetal Microchimeric Cells Influence Experimental Autoimmune Myocarditis?

Objective: We investigated the presence and influence of fetal microchimerism in the cardiac tissue of mated female mice submitted to experimental autoimmune myocarditis. Materials and methods: Nulliparous BALB/c females and BALB/c females mated with either BALB/c males (syngeneic mating) or C57BL/6 males (allogeneic mating) were immunized with cardiac myosin peptide MyHC-α614-629 or kept as non-immunized controls. Immunization occurred 6-8 weeks after delivery and mice were assessed after 21 days. Results: Immunized mice of allogeneic mating had a lower production of anti-MyHC-α614-629 antibodies compared to immunized nulliparous mice. Immunized nulliparous females had an intense mononuclear inflammatory infiltrate in cardiac tissue, associated with fibroplasia, while mated females had a lower inflammatory reaction. An increase in the frequency of microchimeric fetal cells was observed in mice submitted to allogeneic mating following immunization. Conclusion: Allogeneic cells of fetal origin could contribute to mitigating the inflammatory response in experimental myocarditis.

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.

PURPOSE: BRCA1 pathogenic variant heterozygotes are at a substantially increased risk for breast and ovarian cancer. The widespread uptake of testing has led to a significant increase in the detection of missense variants in BRCA1, the vast majority of which are variants of uncertain clinical significance (VUS), posing a challenge to genetic counseling. Here, we harness a wealth of functional data for thousands of variants to aid in variant classification. METHODS: We have collected, curated, and harmonized functional data for 2701 missense variants representing 24.5% of possible missense variants in BRCA1. Results were harmonized across studies by converting data into binary categorical variables (functional impact versus no functional impact). Using a panel of reference variants we identified a subset of assays with high sensitivity and specificity (≥80%) and apply the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant interpretation guidelines to assign evidence criteria for classification. RESULTS: Integration of data from validated assays provided ACMG/AMP evidence criteria in favor of pathogenicity for 297 variants or against pathogenicity for 2058 representing 96.2% of current VUS functionally assessed. We also explore discordant results and identify limitations in the approach. CONCLUSION: High quality functional data are available for BRCA1 missense variants and provide evidence for classification of 2355 VUS according to their pathogenicity.

Distributed Architecture for Unmanned Vehicle Services.

The demand for online services is increasing. Services that would require a long time to understand, use and master are becoming as transparent as possible to the users, that tend to focus only on the final goals. Combined with the advantages of the unmanned vehicles (UV), from the unmanned factor to the reduced size and costs, we found an opportunity to bring to users a wide variety of services supported by UV, through the Internet of Unmanned Vehicles (IoUV). Current solutions were analyzed and we discussed scalability and genericity as the principal concerns. Then, we proposed a solution that combines several services and UVs, available from anywhere at any time, from a cloud platform. The solution considers a cloud distributed architecture, composed by users, services, vehicles and a platform, interconnected through the Internet. Each vehicle provides to the platform an abstract and generic interface for the essential commands. Therefore, this modular design makes easier the creation of new services and the reuse of the different vehicles. To confirm the feasibility of the solution we implemented a prototype considering a cloud-hosted platform and the integration of custom-built small-sized cars, a custom-built quadcopter, and a commercial Vertical Take-Off and Landing (VTOL) aircraft. To validate the prototype and the vehicles' remote control, we created several services accessible via a web browser and controlled through a computer keyboard. We tested the solution in a local network, remote networks and mobile networks (i.e., 3G and Long-Term Evolution (LTE)) and proved the benefits of decentralizing the communications into multiple point-to-point links for the remote control. Consequently, the solution can provide scalable UV-based services, with low technical effort, for anyone at anytime and anywhere.

Web AR Solution for UAV Pilot Training and Usability Testing.

Data and services are available anywhere at any time thanks to the Internet and mobile devices. Nowadays, there are new ways of representing data through trendy technologies such as augmented reality (AR), which extends our perception of reality through the addition of a virtual layer on top of real-time images. The great potential of unmanned aerial vehicles (UAVs) for carrying out routine and professional tasks has encouraged their use in the creation of several services, such as package delivery or industrial maintenance. Unfortunately, drone piloting is difficult to learn and requires specific training. Since regular training is performed with virtual simulations, we decided to propose a multiplatform cloud-hosted solution based in Web AR for drone training and usability testing. This solution defines a configurable trajectory through virtual elements represented over barcode markers placed on a real environment. The main goal is to provide an inclusive and accessible training solution which could be used by anyone who wants to learn how to pilot or test research related to UAV control. For this paper, we reviewed drones, AR, and human-drone interaction (HDI) to propose an architecture and implement a prototype, which was built using a Raspberry Pi 3, a camera, and barcode markers. The validation was conducted using several test scenarios. The results show that a real-time AR experience for drone pilot training and usability testing is achievable through web technologies. Some of the advantages of this approach, compared to traditional methods, are its high availability by using the web and other ubiquitous devices; the minimization of technophobia related to crashes; and the development of cost-effective alternatives to train pilots and make the testing phase easier for drone researchers and developers through trendy technologies.

The implementation of physiological afterload during ex situ heart perfusion augments prediction of posttransplant function.

Ex situ heart perfusion (ex situ heart perfusion) is an emerging technique that aims to increase the number of organs available for transplantation by augmenting both donor heart preservation and evaluation. Traditionally, ex situ heart perfusion has been performed in an unloaded Langendorff mode, though more recently groups have begun to use pump-supported working mode (PSWM) and passive afterload working mode (PAWM) to enable contractile evaluation during ex situ heart perfusion. To this point, however, neither the predictive effectiveness of the two working modes nor the predictive power of individual contractile parameters has been analyzed. In this article, we use our previously described system to analyze the predictive relevance of a multitude of contractile parameters measured in each working mode. Ten porcine hearts were excised and perfused ex situ in Langendorff mode for 4 h, evaluated using pressure-volume catheterization in both PSWM and PAWM, and transplanted into size-matched recipient pigs. After 3 h, hearts were weaned from cardiopulmonary bypass and evaluated. When correlating posttransplant measurements to their ex situ counterparts, we report that parameters measured in both modes show sufficient power (Spearman rank coefficient > 0.7) in predicting global posttransplant function, characterized by cardiac index and preload recruitable stroke work. For the prediction of specific posttransplant systolic and diastolic function, however, a large discrepancy between the two working modes was observed. With 9 of 10 measured posttransplant parameters showing stronger correlation with counterparts measured in PAWM, it is concluded that PAWM allows for a more detailed and nuanced prediction of posttransplant function than can be made in PSWM.NEW & NOTEWORTHY Ex situ heart perfusion has been proposed as a means to augment the organ donor pool by improving organ preservation and evaluation between donation and transplantation. Using our multimodal perfusion system, we analyzed the impact of using a "passive afterload working mode" for functional evaluation as compared with the more traditional "pump-supported working mode." Our data suggests that passive afterload working mode allows for a more nuanced prediction of posttransplant function in porcine hearts.

Clinical outcomes of mitral valve intervention in patients with mitral annular calcification: A systematic review and meta-analysis.

BACKGROUND: Mitral valve (MV) disease with mitral annular calcification (MAC) poses a surgical challenge and the clinical outcomes of MV surgery as well as transcatheter mitral valve replacement (TMVR) remain relatively unexplored. We performed a systematic review and meta-analysis to assess the effects of MAC on clinical outcomes following MV surgery and TMVR. METHODS: We searched MEDLINE and EMBASE databases until February 2019 for studies comparing clinical outcomes of MV surgery or TMVR in patients with and without MAC. Data were extracted by two independent investigators. Outcomes were perioperative and midterm complications and mortality. RESULTS: Seven observational studies enrolling 2902 patients were included. MAC patients were older, more likely to be female with greater chronic lung disease and kidney failure. Perioperative mortality was similar between patients with and without MAC undergoing MV surgery (risk ratio [RR], 1.15; 95% confidence interval [CI], 0.50-2.65; P = .74). MAC was associated with a higher risk of bleeding, permanent pacemaker implantation, and periprosthetic leak. Midterm mortality was greater in MAC patients undergoing MV surgery (incident rate ratio [IRR], 1.32; 95% CI, 1.05-1.67; P = .02). MAC patients undergoing TMVR had higher perioperative (RR, 4.65; 95% CI, 2.93-7.38; P < .01) and 1-year (RR, 5.44; 95% CI, 3.49-8.49; P < .01) mortality, decreased procedural success, greater left ventricular outflow tract obstruction and need for conversion to surgery when compared with patients undergoing TMVR for dysfunction of a bioprosthetic valve or annuloplasty ring. CONCLUSION: MV procedures in patients with MAC are associated with higher mortality and morbidity. This is largely driven by the high-risk patient profile associated with MAC. TMVR holds promise but has important limitations and should be reserved for select patients.

UAV Landing Using Computer Vision Techniques for Human Detection.

The capability of drones to perform autonomous missions has led retail companies to use them for deliveries, saving time and human resources. In these services, the delivery depends on the Global Positioning System (GPS) to define an approximate landing point. However, the landscape can interfere with the satellite signal (e.g., tall buildings), reducing the accuracy of this approach. Changes in the environment can also invalidate the security of a previously defined landing site (e.g., irregular terrain, swimming pool). Therefore, the main goal of this work is to improve the process of goods delivery using drones, focusing on the detection of the potential receiver. We developed a solution that has been improved along its iterative assessment composed of five test scenarios. The built prototype complements the GPS through Computer Vision (CV) algorithms, based on Convolutional Neural Networks (CNN), running in a Raspberry Pi 3 with a Pi NoIR Camera (i.e., No InfraRed-without infrared filter). The experiments were performed with the models Single Shot Detector (SSD) MobileNet-V2, and SSDLite-MobileNet-V2. The best results were obtained in the afternoon, with the SSDLite architecture, for distances and heights between 2.5-10 m, with recalls from 59%-76%. The results confirm that a low computing power and cost-effective system can perform aerial human detection, estimating the landing position without an additional visual marker.

See one, simulate many, do one, teach one: cardiac surgical simulation.

PURPOSE OF REVIEW: To review the cardiac surgical simulation experience with a focus on data supporting its use. RECENT FINDINGS: Simulators have been used to improve trainee performance across multiple surgical domains. Few cardiac surgery residency programs have incorporated the use of simulation individually and Boot Camp programs in the United States and Canada have also introduced surgical simulation early in cardiac surgical training. Simulation curricula have some common elements: component tasks, deliberate practice, progressive operative responsibility, and coaching by an experienced surgeon. Cardiac surgical simulators can range from inexpensive, low-fidelity models for the practice of isolated skills to high-fidelity, operating room-scenarios. Multiple small studies have consistently demonstrated that the use of simulation improves qualitative and quantitative performance measures as well as overall resident confidence in clinical settings. To our knowledge, no study has demonstrated that use of simulation has led to improved quantitative performance measures in the operating room or patient outcomes. The barriers to wider use of surgical simulators include perceived lack of time and resources, the need for sustained practice and the lack of high-quality data to demonstrate clinical benefit. SUMMARY: Incorporation of cardiac surgery simulation has been slow in most residency programs. There is consistent data demonstrating that simulation improves resident performance measures of simulation-based tasks but whether this will lead to improved patient outcomes remains an open question.

New Strategies to Expand and Optimize Heart Donor Pool: Ex Vivo Heart Perfusion and Donation After Circulatory Death: A Review of Current Research and Future Trends.

Heart transplantation remains the definitive management for end-stage heart failure refractory to medical therapy. While heart transplantation cases are increasing annually worldwide, there remains a deficiency in organ availability with significant patient mortality while on the waiting list. Attempts have therefore been made to expand the donor pool and improve access to available organs by recruiting donors who may not satisfy the standard criteria for organ donation because of donor pathology, anticipated organ ischemic time, or donation after circulatory death. "Ex vivo" heart perfusion (EVHP) is an emerging technique for the procurement of heart allografts. This technique provides mechanically supported warm circulation to a beating heart once removed from the donor and before implantation into the recipient. EVHP can be sustained for several hours, facilitate extended travel time, and enable administration of pharmacological agents to optimize cardiac recovery and function, as well as allow assessment of allograft function before implantation. In this article, we review recent advances in expanding the donor pool for cardiac transplantation. Current limitations of conventional donor criteria are outlined, including the determinants of organ suitability and assessment, involving transplantation of donation after circulatory death hearts, extended criteria donors, and EVHP-associated assessment, optimization, and transportation. Finally, ongoing research relating to organ optimization and functional ex vivo allograft assessment are reviewed.

Description of a Novel Set-up for Functional Echocardiographic Assessment of Left Ventricular Performance During Ex Vivo Heart Perfusion.

Ex vivo heart perfusion (EVHP) is a new technology aimed at decreasing cold ischemia time and evaluating cardiac function before transplanting a donor heart. In an experimental EVHP swine model, we tested a 3D-printed custom-made set-up to perform surface echocardiography on an isolated beating heart during left ventricular loading. The views obtained at any time point were equivalent to standard transesophageal and transthoracic views. A decrease in left ventricular function during EVHP was observed in all experiments.

RHD and RHCE genotyping by next-generation sequencing is an effective strategy to identify molecular variants within sickle cell disease patients.

BACKGROUND: The complexity of Rh genetic variation among sickle cell disease (SCD) patients is high. Conventional molecular assays cannot identify all genetic variants already described for the RH locus as well as foresee novel alleles. Sequencing RHD and RHCE is indicated to broaden the search for Rh genetic variants. AIMS: To standardize the Next Generation Sequencing (NGS) strategy to assertively identify Rh genetic variants among SCD patients with serologic suspicion of Rh variants and evaluate if it can improve the transfusion support. METHODS: Thirty-five SCD patients with unexplained Rh antibodies were enrolled. A NGS-based strategy was developed to genotype RHD and RHCE using gene-specific primers. Genotype and serological data were compared. RESULTS: Data obtained from the NGS-based assay were gene-specific. Ten and 25 variant RHD and RHCE alleles were identified, respectively. Among all cases of unexplained Rh antibodies, 62% had been inaccurately classified by serological analysis and, of these, 73.1% were considered as relevant, as were associated with increased risk of hemolytic reactions and shortage of units suitable for transfusion. CONCLUSION: The NGS assay designed to genotype RH coding regions was effective and accurate in identifying variants. The proposed strategy clarified the Rh phenotype of most patients, improving transfusion support.

Left ventricular assist device exchange: the Toronto General Hospital experience.

BACKGROUND: As support times for left ventricular assist devices (LVADs) become longer, several complications requiring device exchange may occur. To our knowledge, this is the first Canadian report regarding implantable LVAD exchange. METHODS: We retrospectively reviewed the cases of consecutive, unique patients implanted with an LVAD between June 2006 and October 2015 at Toronto General Hospital. RESULTS: In total, 122 patients were impanted with an LVAD during the study period. Eight patients required LVAD exchange, and 1 patient had 2 replacements (9 of 122, 7.3%). There were 7 HeartMate II (HMII), 1 HVAD and 1 DuraHeart pumps exchanged. Two of these exchanges occurred early at the time of initial implant, whereas 7 occurred late (range 8-623 d). Six exchanges were made owing to pump thrombosis. Of the 3 exchanges made for other causes, 1 HMII exchange was owing to a driveline fracture, 1 DuraHeart patient had early inflow obstruction requiring exchange to HMII at the initial implant, and the third had a suspected inflow obstruction with no evidence of thrombosis at the time of the procedure. The mean support time before exchange was 225 days, and time from exchange to transplant, death or ongoing support was 245 days. Three patients were successfully bridged to transplant, and at the time of data collection 2 were supported awaiting transplant. Three patients died after a mean duration of 394.3 days (range 78-673 d) of support postreplacement. Four cases were successfully performed using a subcostal approach. CONCLUSION: Pump thrombosis is the most common cause for LVAD exchange, which can be performed with acceptable morbidity and mortality. The subcostal approach may be the preferred procedure for an HMII exchange when indicated.

CONTEXTE: À mesure que la durée d'utilisation des dispositifs d'assistance ventriculaire gauche (DAVG) augmente, plusieurs complications nécessitant un remplacement du dispositif peuvent survenir. À notre connaissance, il s'agit du premier rapport canadien concernant le remplacement des DAVG implantables. MÉTHODES: Nous avons passé en revue de manière rétrospective les cas individuels consécutifs de patients à qui on a implanté un DAVG entre juin 2006 et octobre 2015 à l'Hôpital Général de Toronto. RÉSULTATS: En tout, 122 patients ont reçu un DAVG pendant la période de l'étude. Huit patients ont eu besoin d'un remplacement de DAVG et 1 patient a eu besoin de 2 remplacements (9 sur 122, 7,3 %). Sept dispositifs HeartMate II (HMII), 1 dispositif HVAD et 1 dispositif DuraHeart ont été remplacés. Deux de ces remplacements sont survenus peu de temps après la pose initiale du dispositif, tandis que les 7 autres se sont produits plus tardivement (dans les 8 à 623 jours suivants). Six remplacements ont été effectués en raison d'une thrombose de la pompe. Parmi les 3 remplacements effectués pour d'autres raisons, 1 dispositif HMII a été remplacé en raison d'un bris de la ligne d'activation, 1 dispositif DuraHeart a présenté une obstruction précoce du flux entrant nécessitant la pose d'un HMII dès l'implantation initiale, et le troisième présentait une obstruction présumée du flux entrant sans signe de thrombose au moment de l'intervention. La durée moyenne d'utilisation avant le remplacement du dispositif a été de 225 jours, et l'intervalle entre le remplacement et la transplantation, le décès ou la décision de maintenir l'assistance a été de 245 jours. L'appareil a permis une transition réussie jusqu'à la transplantation chez 3 patients, et au moment de la collecte des données, 2 patients porteurs d'un DAVG étaient en attente d'une transplantation. Trois patients sont décédés après une durée moyenne de 394,3 jours (entre 78 et 673 jours) d'assistance post-remplacement. Quatre remplacements ont été effectués avec succès par une approche sous-costale. CONCLUSION: La thrombose de la pompe est la cause la plus fréquente de remplacement d'un DAVG; le remplacement peut être effectué avec des taux de morbidité et de mortalité acceptables. L'approche sous-costale serait à privilégier lorsqu'un remplacement de HMII est indiqué.

A New Multi-Mode Perfusion System for Ex Vivo Heart Perfusion Study.

Ex vivo heart perfusion has been shown to be an effective means of facilitating the resuscitation and assessment of donor hearts for cardiac transplantation. Over the last ten years however, only a few ex vivo perfusion systems have been developed for this application. While results have been promising, a system capable of facilitating multiple perfusion strategies on the same platform has not yet been realized. In this paper, the design, development and testing of a novel and modular ex vivo perfusion system is described. The system is capable of operating in three unique primary modes: the traditional Langendorff Mode, Pump-Supported Working-Mode, and Passive Afterload Working-Mode. In each mode, physiological hemodynamic parameters can be produced by managing perfusion settings. To evaluate heart viability, six experiments were conducted using porcine hearts and measuring several parameters including: pH, aortic pressure, lactate metabolism, coronary vascular resistance (CVR), and myocardial oxygen consumption. Pressure-volume relationship measurements were used to assess left ventricular contractility in each Working Mode. Hemodynamic and metabolic conditions remained stable and consistent across 4 h of ex vivo heart perfusion on the ex vivo perfusion system, validating the system as a viable platform for future development of novel preservation and assessment strategies.

Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.

BACKGROUND: Approximately 8-15% epithelial ovarian cancer patients are BRCA1 or BRCA2 germline mutation carriers. Brazilian inhabitants may have peculiar genetic characteristics associated with ethnic diversity, and studies focusing on the entire BRCA1/BRCA2 gene sequencing in Brazilian ovarian cancer patients are still lacking. The aim of this study was to evaluate BRCA1/2 mutations, through entire gene sequencing, in a Brazilian population of women with epithelial ovarian cancer. METHODS: In a cross sectional study performed in one reference centre for cancer treatment in São Paulo, Brazil, 100 patients diagnosed with epithelial ovarian cancer unselected for family history of breast and/or ovarian cancer were included. The complete coding sequence of BRCA1/2 genes was evaluated through Next-Generation or capillary sequencing. Large deletions were investigated through Multiplex Ligation-dependent Probe Amplification (MLPA). RESULTS: Nineteen pathogenic mutations (BRCA1: n = 17 and BRCA2: n = 2) featuring 14 different mutations, including two large deletions in BRCA1 (exon 1-2 deleted and exon 5-7 deleted) were identified. Three mutations were detected more than once (c.3331_3334delCAAG, c.5266dupC and c.4484G > T). Two novel frameshift mutations were identified, one in BRCA1 (c.961_962delTG) and one in BRCA2 (c.1963_1963delC). BRCA1/2 mutations were seen in 35.5% of the patients with first and/or second-degree relatives with breast and/or ovarian cancer. Nineteen variants of uncertain significance (VUS) were detected (BRCA1: n = 2 and BRCA2: n = 17), including five distinct missense variants (BRCA1: c.5348 T > C; BRCA2: c.2350A > G, c.3515C > T, c.7534C > T, and c.8351G > A). CONCLUSIONS: Among epithelial ovarian cancer patients unselected for family history of cancer, 19% were BRCA1/2 germline mutation carriers. Almost ¾ of the BRCA mutations, including two large deletions, were detected only once. Our work emphasizes the need of entire gene sequencing and MLPA screening in Brazil.

HCV inter-subtype 1a/1b recombinant detected by complete-genome next-generation sequencing.

Next-generation sequencing (NGS) provides a practical approach to HCV complete-genome sequencing, detecting low-frequency variants and allowing analysis of viral genetic diversity (quasispecies) in the sample, and so far, it is very useful for identifying preexisting drug-resistant mutants and emerging escape mutations, as well as detecting viral recombinants containing genomic regions from different genotypes and subtypes. The aim of this study was to analyze the complete coding region of hepatitis C virus (HCV) genotype 1 (subtypes 1a and 1b) from patients with chronic infection who were direct-acting antiviral (DAA) naïve. Next-generation sequencing (Ion Torrent™ PGM) was used to determine the sequence of the complete coding region of 100 HCV-monoinfected DAA-naïve patients (51 and 49 subtypes 1a and 1b, respectively). We report the first description of nearly complete HCV genome sequences of subtype 1a and 1b isolates from a large population of Brazilian patients with chronic hepatitis C, and HCV-1a grouped in two different clades. Using this methodology, an inter-subtype 1a/1b recombinant was identified in this study.