Exérese laparoscópica de um schwannoma retroperitoneal: um caso clínico e revisão da literatura

ResumoIntroduçãoOs schwannomas retroperitoneais são tumores raros, maioritariamente benignos e com origem na bainha dos nervos periféricos. O diagnóstico pré‐operatório correto é frequentemente impossível. São raras as descrições de exérese laparoscópica de schwannomas nesta topografia. Pretendemos apresentar um caso de um schwannoma retroperitoneal tratado por via laparoscópica.MétodosHomem de 61 anos, com um achado acidental por ecografia de natureza sólida retroperitoneal. A tomografia computadorizada e a ressonância magnética revelaram uma lesão nodular, de contornos bem definidos, heterogénea, com 3cm de diâmetro, junto ao psoas maior. Foi realizada uma exérese do tumor por via laparoscópica transperitoneal.ResultadosO tempo operatório foi de 65 minutos, não se registando qualquer complicação perioperatória. O resultado histopatológico revelou um schwannoma benigno. Ao segundo ano de seguimento o doente encontra‐se sem recidivas.DiscussãoOs schwannomas retroperitoneais são difíceis de diagnosticar pré‐operatoriamente. O diagnóstico e o tratamento de escolha é a exérese cirúrgica. A abordagem laparoscópica dos schwannomas retroperitoniais confere menor invasividade, é segura e reprodutível, sobretudo porque são lesões bem delimitadas e hipovasculares que podem ser facilmente dissecadas das estruturas adjacentes.AbstractIntroductionRetroperitoneal schwannomas are rare, usually benign tumours that originate in the peripheral neural sheath. Preoperative diagnosis is often impossible. Few cases of laparoscopic removal of retroperitoneal schwannoma have been reported to date. We aim to report a case of retroperitoneal schwannoma using laparoscopic surgical technique.MethodsA 61‐year‐old man was found incidentally a solid retroperitoneal tumour by ultrasound. Abdominal computed tomography and magnetic ressonance imaging revealed a well‐defined, heterogeneous tumour, 3cm in diameter, in pararrenal space close to psoas major. A transperitoneal laparoscopic resection was performed.ResultsOperative time was 65minutes. The patient had an uneventful perioperative course. Histopathological exam revealed a benign schwannoma. No recurrence was detected after 2 years of follow‐up.DiscussionPreoperative establishment of diagnosis is difficult in case of retroperitoneal schwannomas even with imagiologic or biopsy studies. Complete resection is the diagnosis and treatment of choice. Laparoscopic treatment is minimal invasive, safe and feasible for retroperitoneal schwannomas mainly because these lesions are well limited and hypovascular, allowing a careful dissection from adjacent structures through an improved visualization

Analysis of among-site variation in substitution patterns

Substitution patterns among nucleotides are often assumed to be constant in phylogenetic analyses. Although variation in the average rate of substitution among sites is commonly accounted for, variation in the relative rates of specific types of substitution is not. Here, we review details of methodologies used for detecting and analyzing differences in substitution processes among predefined groups of sites. We describe how such analyses can be performed using existing phylogenetic tools, and discuss how new phylogenetic analysis tools we have recently developed can be used to provide more detailed and sensitive analyses, including study of the evolution of mutation and substitution processes. As an example we consider the mitochondrial genome, for which two types of transition deaminations (C⇒T and A⇒G) are strongly affected by single-strandedness during replication, resulting in a strand asymmetric mutation process. Since time spent single-stranded varies along the mitochondrial genome, their differential mutational response results in very different substitution patterns in different regions of the genome

Prevalence of Autism Spectrum Disorder in the Centro region of Portugal: a population based study of school age children within the ASDEU project

Introduction: Accurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources for children. However, estimates vary globally and across Europe, and it is therefore wise to conduct epidemiological studies in defined geo-cultural contexts. Methods: We used a population screening approach to estimate the prevalence of ASD in the Centro region of Portugal, using a harmonized protocol as part of the Autism Spectrum Disorders in the European Union (ASDEU) project. Results: The overall prevalence was estimated at 0.5% (95% CI 0.3-0.7), higher in schools with Autism Units (3.3%, 95%CI 2.7-3.9) than in regular schools (0.3%, 95% CI 0.1-0.5) or schools with Multiple Disability Units (0.3%, 95% CI 0.04-0.6). Discussion: The results indicate that the diagnosis of ASD is followed by the most effective educational policies in Centro Region. The variability in prevalence estimates across the different regions from the ASDEU project, and globally, is discussed.The Autism Spectrum Disorders in the European Union project – ASDEU has been funded by the DG-SANTÉ, European Commission (grant number SANCO/2014/C2/035). This research was supported by national funds from FCT, Fundação para a Ciência e a Tecnologia, I.P. (UIDB/04046/2020 grant to BioISI).S

A multi-country One Health foodborne outbreak simulation exercise: cross-sectoral cooperation, data sharing and communication

IntroductionThe awareness of scientists and policy makers regarding the requirement for an integrated One Health (OH) approach in responding to zoonoses has increased in recent years. However, there remains an overall inertia in relation to the implementation of practical cross-sector collaborations. Foodborne outbreaks of zoonotic diseases continue to affect the European population despite stringent regulations, evidencing the requirement for better ‘prevent, detect and response’ strategies. Response exercises play an essential role in the improvement of crisis management plans, providing the opportunity to test practical intervention methodologies in a controlled environment.MethodsThe One Health European Joint Programme simulation exercise (OHEJP SimEx) aimed at practicing the OH capacity and interoperability across public health, animal health and food safety sectors in a challenging outbreak scenario. The OHEJP SimEx was delivered through a sequence of scripts covering the different stages of a Salmonella outbreak investigation at a national level, involving both the human food chain and the raw pet feed industry.ResultsA total of 255 participants from 11 European countries (Belgium, Denmark, Estonia, Finland, France, Italy, Norway, Poland, Portugal, Sweden, the Netherlands) took part in national level two-day exercises during 2022. National evaluations identified common recommendations to countries aiming to improve their OH structure to establish formal communication channels between sectors, implement a common data sharing platform, harmonize laboratory procedures, and reinforce inter-laboratory networks within countries. The large proportion of participants (94%) indicated significant interest in pursuing a OH approach and desire to work more closely with other sectors.DiscussionThe OHEJP SimEx outcomes will assist policy makers in implementing a harmonized approach to cross-sector health-related topics, by highlighting the benefits of cooperation, identifying gaps in the current strategies and suggesting actions required to better address foodborne outbreaks. Furthermore, we summarize recommendations for future OH simulation exercises, which are essential to continually test, challenge and improve national OH strategies

Cytosine-to-Uracil Deamination by SssI DNA Methyltransferase

The prokaryotic DNA(cytosine-5)methyltransferase M.SssI shares the specificity of eukaryotic DNA methyltransferases (CG) and is an important model and experimental tool in the study of eukaryotic DNA methylation. Previously, M.SssI was shown to be able to catalyze deamination of the target cytosine to uracil if the methyl donor S-adenosyl-methionine (SAM) was missing from the reaction. To test whether this side-activity of the enzyme can be used to distinguish between unmethylated and C5-methylated cytosines in CG dinucleotides, we re-investigated, using a sensitive genetic reversion assay, the cytosine deaminase activity of M.SssI. Confirming previous results we showed that M.SssI can deaminate cytosine to uracil in a slow reaction in the absence of SAM and that the rate of this reaction can be increased by the SAM analogue 5’-amino-5’-deoxyadenosine. We could not detect M.SssI-catalyzed deamination of C5-methylcytosine (m5C). We found conditions where the rate of M.SssI mediated C-to-U deamination was at least 100-fold higher than the rate of m5C-to-T conversion. Although this difference in reactivities suggests that the enzyme could be used to identify C5-methylated cytosines in the epigenetically important CG dinucleotides, the rate of M.SssI mediated cytosine deamination is too low to become an enzymatic alternative to the bisulfite reaction. Amino acid replacements in the presumed SAM binding pocket of M.SssI (F17S and G19D) resulted in greatly reduced methyltransferase activity. The G19D variant showed cytosine deaminase activity in E. coli, at physiological SAM concentrations. Interestingly, the C-to-U deaminase activity was also detectable in an E. coli ung+ host proficient in uracil excision repair

Diseñando el futuro de la docencia de grado en la facultad de odontología de la UCM

Fac. de OdontologíaFALSEsubmitte

Impact of COVID-19 on medical education: Introducinghomo digitalis

Purpose To determine how members of the Societe Internationale d'Urologie (SIU) are continuing their education in the time of COVID-19. Methods A survey was disseminated amongst SIU members worldwide by email. Results were analyzed to examine the influence of age, practice region and settings on continuing medical education (CME) of the respondents. Results In total, 2494 respondents completed the survey. Internet searching was the most common method of CME (76%; allps = 2 platforms, with approximately 10% of the respondents using up to 5 different platforms. Urologists < 40 years old were more likely to use online literature (69%), podcasts/AV media (38%), online CME courses/webinars (40%), and social media (39%). There were regional variations in the CME modality used but no significant difference in the number of methods by region. There was no significant difference in responses between urologists in academic/public hospitals or private practice. Conclusion During COVID-19, urologists have used web-based learning for their CME. Internet learning and literature were the top frequently cited learning methods. Younger urologists are more likely to use all forms of digital learning methods, while older urologists prefer fewer methods

Mutations of Different Molecular Origins Exhibit Contrasting Patterns of Regional Substitution Rate Variation

Transitions at CpG dinucleotides, referred to as “CpG substitutions”, are a major mutational input into vertebrate genomes and a leading cause of human genetic disease. The prevalence of CpG substitutions is due to their mutational origin, which is dependent on DNA methylation. In comparison, other single nucleotide substitutions (for example those occurring at GpC dinucleotides) mainly arise from errors during DNA replication. Here we analyzed high quality BAC-based data from human, chimpanzee, and baboon to investigate regional variation of CpG substitution rates

Bladder sensory desensitization decreases urinary urgency

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