Colocalised Genetic Associations Reveal Alternative Splicing Variants as Candidate Causal Links for Breast Cancer Risk in 10 Loci.

Genome-wide association studies (GWASs) have revealed numerous loci associated with breast cancer risk, yet the precise causal variants, their impact on molecular mechanisms, and the affected genes often remain elusive. We hypothesised that specific variants exert their influence by affecting cis-regulatory alternative splice elements. An analysis of splicing quantitative trait loci (sQTL) in healthy breast tissue from female individuals identified multiple variants linked to alterations in splicing ratios. Through colocalisation analysis, we pinpointed 43 variants within twelve genes that serve as candidate causal links between sQTL and GWAS findings. In silico splice analysis highlighted a potential mechanism for three genes-FDPS, SGCE, and MRPL11-where variants in proximity to or on the splice site modulate usage, resulting in alternative splice transcripts. Further in vitro/vivo studies are imperative to fully understand how these identified changes contribute to breast oncogenesis. Moreover, investigating their potential as biomarkers for breast cancer risk could enhance screening strategies and early detection methods for breast cancer.

Identification of candidate causal variants and target genes at 41 breast cancer risk loci through differential allelic expression analysis.

Understanding breast cancer genetic risk relies on identifying causal variants and candidate target genes in risk loci identified by genome-wide association studies (GWAS), which remains challenging. Since most loci fall in active gene regulatory regions, we developed a novel approach facilitated by pinpointing the variants with greater regulatory potential in the disease's tissue of origin. Through genome-wide differential allelic expression (DAE) analysis, using microarray data from 64 normal breast tissue samples, we mapped the variants associated with DAE (daeQTLs). Then, we intersected these with GWAS data to reveal candidate risk regulatory variants and analysed their cis-acting regulatory potential. Finally, we validated our approach by extensive functional analysis of the 5q14.1 breast cancer risk locus. We observed widespread gene expression regulation by cis-acting variants in breast tissue, with 65% of coding and noncoding expressed genes displaying DAE (daeGenes). We identified over 54 K daeQTLs for 6761 (26%) daeGenes, including 385 daeGenes harbouring variants previously associated with BC risk. We found 1431 daeQTLs mapped to 93 different loci in strong linkage disequilibrium with risk-associated variants (risk-daeQTLs), suggesting a link between risk-causing variants and cis-regulation. There were 122 risk-daeQTL with stronger cis-acting potential in active regulatory regions with protein binding evidence. These variants mapped to 41 risk loci, of which 29 had no previous report of target genes and were candidates for regulating the expression levels of 65 genes. As validation, we identified and functionally characterised five candidate causal variants at the 5q14.1 risk locus targeting the ATG10 and ATP6AP1L genes, likely acting via modulation of alternative transcription and transcription factor binding. Our study demonstrates the power of DAE analysis and daeQTL mapping to identify causal regulatory variants and target genes at breast cancer risk loci, including those with complex regulatory landscapes. It additionally provides a genome-wide resource of variants associated with DAE for future functional studies.

Semi-arid's Unsung Heroes: Hymenoptera and the Vital Ecosystem Services Enabled by Encholirium spectabile, a Rupicolous Bromeliad in the Brazilian Semi-arid Region.

The concept of Ecosystem Services (ES) recognizes the importance of natural ecosystems in supporting human well-being. Hymenoptera, a diverse group of insects including ants, bees, and wasps, play crucial roles in providing ESs. Despite their significance, the provision of ESs by Hymenoptera is often undervalued, leading to ecosystem degradation and loss of important services. This study focuses on the association between Hymenoptera and a rupicolous bromeliad species (Encholirium spectabile) and explores the ESs promoted directly and indirectly by these insects. The study area is located in the Caatinga region of Brazil, characterized by irregular rainfall and a dry season. The results show that Hymenoptera, particularly bees, ants, and wasps, provide a range of ESs including pollination, honey production, pest control, cultural symbolism, and educational value. These services are vital for plant reproduction, food production, and ecosystem functioning in both seasons; there are no differences in species richness between seasons, but rather in species composition. Understanding the importance of Hymenoptera for ESs is crucial for informing conservation and management practices to ensure the sustainability of natural ecosystems. The study highlights the need for conservation actions to protect the intricate ecological relationships between Hymenoptera and bromeliads, which indirectly support ESs by providing habitat and resources, especially during droughts when resources are scarce in the region. By recognizing the importance of bromeliads in supporting Hymenopteran communities, conservation efforts can focus on preserving these critical ecological interactions and maintaining ES provision.

MANAGEMENT OF SYMPTOMS RECURRENCE AFTER MYOTOMY FOR ACHALASIA. A PRACTICAL APPROACH.

BACKGROUND: Achalasia is an esophageal motility disorder, and myotomy is one of the most used treatment techniques. However, symptom persistence or recurrence occurs in 9 to 20% of cases. AIMS: This study aims to provide a practical approach for managing the recurrence or persistence of achalasia symptoms after myotomy. METHODS: A critical review was performed to gather evidence for a rational approach for managing the recurrence or persistence of achalasia symptoms after myotomy. RESULTS: To properly manage an achalasia patient with significant symptoms after myotomy, such as dysphagia, regurgitation, thoracic pain, and weight loss, it is necessary to classify symptoms, stratify severity, perform appropriate tests, and define a treatment strategy. A systematic differential diagnosis workup is essential to cover the main etiologies of symptoms recurrence or persistence after myotomy. Upper digestive endoscopy and dynamic digital radiography are the main tests that can be applied for investigation. The treatment options include endoscopic dilation, peroral endoscopic myotomy, redo surgery, and esophagectomy, and the decision should be based on the patient's individual characteristics. CONCLUSIONS: A good clinical evaluation and the use of proper tests jointly with a rational assessment, are essential for the management of symptoms recurrence or persistence after achalasia myotomy.

Advanced Cancer-A Bad Consequence of a Missed Follow-Up after ESD in Barrett's Esophagus.

Barrett's esophagus(BE)is a precursor to adenocarcinoma of the esophagogastric transition. Thus, endoscopic surveillance is essential for the early diagnosis of dysplasia and neoplasm, allowing proper therapeutic. However, during the COVID-19 pandemic, surveillance frequently failed. We present a case of a male, caucasian, 65 years old, patient with early adenocarcinoma in BE. Submitted an endoscopic resection, but due to the COVID-19 pandemic patient lost the follow-up endoscopic exams. Returned with a T3N1 adenocarcinoma esophagus in resection area. The present report illustrates the consequences of the failure in follow-up after submucosal resection in COVID-19 pandemic context.

Not so Mutually Exclusive Diseases: A Case of Co-occurrence of Inflammatory Spondyloarthritis and Diffuse Skeletal Hyperostosis in a Young Patient.

Diffuse idiopathic skeletal hyperostosis (DISH) and axial spondyloarthritis (axial SpA) are differential diagnoses of lower back pain. While the latter is considered to be an inflammatory disease, DISH is thought to be a metabolic condition. The authors report a case of a 34-year-old man who presented with a one-year history of axial lower back pain associated to migratory polyarthritis, buttock and heel pain. Imaging revealed contiguous calcification of the anterior longitudinal ligament of the cervical segment, meeting major criteria for DISH. However, he also exhibited signs of bilateral sacroiliitis highly suggestive of axial SpA for which he initiated biological therapy. LEARNING POINTS: Although the most used criteria for diffuse idiopathic skeletal hyperostosis (DISH) were designed to exclude radiographic signs of spondyloarthritis (SpA), both conditions can be present simultaneously.There are only few case reports in the literature that demonstrate the association of the two diseases.Overlap and misperception of SpA and DISH could result in undertreatment of individual patients and have a negative impact on prognosis.

Unwrapping broken tails: Biological and environmental correlates of predation pressure in limbless reptiles.

Studying species interactions in nature often requires elaborated logistics and intense fieldwork. The difficulties in such task might hinder our ability to answer questions on how biotic interactions change with the environment. Fortunately, a workaround to this problem lies within scientific collections. For some animals, the inspection of preserved specimens can reveal the scars of past antagonistic encounters, such as predation attempts. A common defensive behaviour that leaves scars on animals is autotomy, the loss of a body appendage to escape predation. By knowing the collection site of preserved specimens, it is possible to assess the influence of organismal biology and the surrounding environment in the occurrence of autotomy. We gathered data on tail loss for 8189 preserved specimens of 33 snake and 11 amphisbaenian species to investigate biological and environmental correlates of autotomy in reptiles. We applied generalized linear mixed effect models to evaluate whether body size, sex, life-stage, habitat use, activity pattern, biome, tropicality, temperature and precipitation affect the probability of tail loss in limbless reptiles. We observed autotomy in 23.6% of examined specimens, with 18.7% of amphisbaenian and 33.4% of snake specimens showing tail loss. The probability of tail loss did not differ between snakes and amphisbaenians, but it was higher among large-sized specimens, particularly in adults and females. Chance of tail loss was higher for diurnal and arboreal species, and among specimens collected in warmer regions, but it was unaffected by biome, precipitation, and tropicality. Autotomy in limbless reptiles was affected by size-dependent factors that interplay with ontogeny and sexual dimorphism, although size-independent effects of life-stage and sex also shaped behavioural responses to predators. The increase in probability of tail loss with verticality and diurnality suggests a risk-balance mechanism between species habitat use and activity pattern. Although autotomy is more likely in warmer regions, it seems unrelated to seasonal differences in snakes and amphisbaenians activity. Our findings reveal several processes related to predator-prey interactions involving limbless reptiles, demonstrating the importance of scientific collections to unveil ecological mechanisms at different spatio-temporal scales.

Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

Abstract Aromatic L-Amino acid decarboxylase (AADC) deficiency is a rare neurometabolic disorder due to a homozygous or compound heterozygous pathogenic variant of the DDC gene, resulting in low synthesis of the biogenic amines dopamine, serotonin, epinephrine, and norepinephrine. Most patients had severe expression of the disease with global developmental delay, early hypotonia, movement disorders such as oculogyric crises, tremor, and dystonia. Oromandibular dystonia (OMD) is rarely recognized in patients with AADC deficiency. The aim of this study was to describe OMD in detail in 4 patients with AADC deficiency. OMD occurred in isolated form or in association with oculogyric crises, increasing the difficulty in care patients during the crises. The main form of OMD was tongue dystonia associated with mouth opening dystonia. AADC deficiency must be included in the list of genetic causes of OMD.

Management of symptoms recurrence after myotomy for achalasia. a practical approach / Manejo da recidiva de sintomas após miotomia para acalasia. uma abordagem prática

ABSTRACT BACKGROUND: Achalasia is an esophageal motility disorder, and myotomy is one of the most used treatment techniques. However, symptom persistence or recurrence occurs in 9 to 20% of cases. AIMS: This study aims to provide a practical approach for managing the recurrence or persistence of achalasia symptoms after myotomy. METHODS: A critical review was performed to gather evidence for a rational approach for managing the recurrence or persistence of achalasia symptoms after myotomy. RESULTS: To properly manage an achalasia patient with significant symptoms after myotomy, such as dysphagia, regurgitation, thoracic pain, and weight loss, it is necessary to classify symptoms, stratify severity, perform appropriate tests, and define a treatment strategy. A systematic differential diagnosis workup is essential to cover the main etiologies of symptoms recurrence or persistence after myotomy. Upper digestive endoscopy and dynamic digital radiography are the main tests that can be applied for investigation. The treatment options include endoscopic dilation, peroral endoscopic myotomy, redo surgery, and esophagectomy, and the decision should be based on the patient's individual characteristics. CONCLUSIONS: A good clinical evaluation and the use of proper tests jointly with a rational assessment, are essential for the management of symptoms recurrence or persistence after achalasia myotomy.

RESUMO RACIONAL: A acalasia é um distúrbio da motilidade esofágica e a miotomia é uma das técnicas de tratamento mais utilizadas. No entanto, a persistência ou recorrência dos sintomas ocorre em 9 a 20%. OBJETIVOS: Este estudo visa fornecer uma abordagem prática para o manejo da recorrência ou persistência dos sintomas de acalasia após miotomia. MÉTODOS: Foi realizada uma revisão crítica para reunir evidências para uma abordagem racional no manejo da recorrência ou persistência dos sintomas de acalasia após miotomia. RESULTADOS: Para o manejo adequado de um paciente com acalásia com sintomas significativos após miotomia, como disfagia, regurgitação, dor torácica e perda de peso, é necessário classificar os sintomas, estratificar a gravidade, realizar exames adequados e definir uma estratégia de tratamento. Uma investigação diagnóstica diferencial sistemática é essencial para cobrir as principais etiologias de recorrência ou persistência dos sintomas após a miotomia. A endoscopia digestiva alta e a radiografia digital dinâmica são os principais exames que podem ser aplicados para investigação. As opções de tratamento incluem dilatação endoscópica, POEM (miotomia endoscópica oral), remiotomia e esofagectomia, e a decisão deve ser baseada nas características individuais do paciente. CONCLUSÕES: Uma boa avaliação clínica e a utilização de exames adequados, juntamente com uma avaliação racional, são essenciais para o manejo da recorrência ou persistência dos sintomas após miotomia por acalasia.

Pregnancy and lactation-associated osteoporosis in a Systemic Lupus Erythematosus patient.

Pregnancy and lactation-associated osteoporosis (PLO) is a rare disease that occurs in late pregnancy or early postpartum and is associated with multiple vertebral fractures. We present a case of a 34-year-old woman with a history of Systemic Lupus Erythematosus and Antiphospholipid Syndrome, who started postpartum back pain. After an ineffective response to analgesic escalation, she performed imaging exams with evidence of multiple dorsal and lumbar vertebral fractures. After an exhaustive etiological study, PLO represented the most likely diagnosis. Early diagnosis, interruption of breastfeeding, and initiation of targeted anti-osteoporotic therapy are essential for symptomatic control, increase the quality of life of these patients, and prevent new fractures in the future.

Ethics, COVID-19 and nursing vulnerability: analysis of photographs released by the media.

OBJECTIVES: to analyze nursing vulnerability through photos released by the media amidst the COVID-19 pandemic. METHODS: a documentary study, with a qualitative approach. The object of analysis were photographic images selected between January 2020 and March 2021, published by the main news portals in countries such as Brazil, the United States, France, Spain, England and Germany. Thematic categorical analysis was the method of analysis used. RESULTS: we found 74 photographs that portrayed nursing professionals in different work situations. It was possible to identify stigma and social devaluation about this class's representation and professional attribution. Moreover, we found an underrepresentation of black professionals in Brazilian portals and the man as the prominent figure in the spaces of claims. FINAL CONSIDERATIONS: the photographs represented an important tool for the social analysis of nursing vulnerability, favoring the unveiling of situations that may go unnoticed by nursing and society.

A meta-analysis of the effects of climate change on the mutualism between plants and arbuscular mycorrhizal fungi.

Climate change and other anthropogenic activities have the potential to alter the dynamics of resource exchange in the mutualistic symbiosis between plants and mycorrhizal fungi, potentially altering its stability. Arbuscular mycorrhizal (AM) fungi, which interact with most plant species, are less cold-tolerant than other groups of fungi; warming might therefore lead to increased fungal-mediated nutrient transfers to plants, which could strengthen the mutualism. By stimulating photosynthesis, rising CO2 could reduce the carbon cost of supporting AM fungi, which may also strengthen the mutualism. Furthermore, rising temperature and CO2 could have stronger effects on the mutualism in wild plants than in domesticated plants because the process of domestication can reduce the dependence of plants on mycorrhizal fungi. We conducted a multi-level random effects meta-analysis of experiments that quantified the strength of the mutualism as plant growth response to AM fungal inoculation (i.e., mycorrhizal growth response) under contrasting temperature and CO2 treatments that spanned the Last Glacial Maximum (LGM) to those expected with future climate change. We tested predictions using a three-level mixed effects meta-regression model with temperature or CO2, domestication status and their interaction as moderators. Increases from subambient to ambient temperature stimulated mycorrhizal growth response only for wild, but not for domesticated plant species. An increase from ambient to superambient temperature stimulated mycorrhizal growth response in both wild and domesticated plants, but the overall temperature effect was not statistically significant. By contrast, increased CO2 concentration, either from subambient to ambient or ambient to super ambient levels, did not affect mycorrhizal growth response in wild or domesticated plants. These results suggest the mutualism between wild plants and AM fungi was likely strengthened as temperature rose from the past to the present and that forecasted warming due to climate change may have modest positive effects on the mutualistic responses of plants to AM fungi. Mutualistic benefits obtained by plants from AM fungi may not have been altered by atmospheric CO2 increases from the past to the present, nor are they likely to be affected by a forecasted CO2 increase. This meta-analysis also identified gaps in the literature. In particular, (i) a large majority of studies that examined temperature effects on the mutualism focus on domesticated species (>80% of all trials) and (ii) very few studies examine how rising temperature and CO2, or other anthropogenic effects, interact to influence the mutualism. Therefore, to predict the stability of the mycorrhizal mutualism in the Anthropocene, future work should prioritize wild plant species as study subjects and focus on identifying how climate change factors and other human activities interact to affect plant responses to AM fungi.

Ethics, COVID-19 and nursing vulnerability: analysis of photographs released by the media / Ética, COVID-19 y vulnerabilidad de enfermería: análisis de fotografías difundidas por los medios / Ética, COVID-19 e vulnerabilidade da enfermagem: análise de fotografias divulgadas pela mídia

ABSTRACT Objectives: to analyze nursing vulnerability through photos released by the media amidst the COVID-19 pandemic. Methods: a documentary study, with a qualitative approach. The object of analysis were photographic images selected between January 2020 and March 2021, published by the main news portals in countries such as Brazil, the United States, France, Spain, England and Germany. Thematic categorical analysis was the method of analysis used. Results: we found 74 photographs that portrayed nursing professionals in different work situations. It was possible to identify stigma and social devaluation about this class's representation and professional attribution. Moreover, we found an underrepresentation of black professionals in Brazilian portals and the man as the prominent figure in the spaces of claims. Final Considerations: the photographs represented an important tool for the social analysis of nursing vulnerability, favoring the unveiling of situations that may go unnoticed by nursing and society.

RESUMEN Objetivos: analizar la vulnerabilidad de la enfermería a través de fotos difundidas por los medios de comunicación en el contexto de la pandemia de la COVID-19. Métodos: estudio documental, con abordaje cualitativo. El objeto de análisis fueron imágenes fotográficas seleccionadas entre enero de 2020 y marzo de 2021, publicadas por los principales portales de noticias de países como Brasil, Estados Unidos, Francia, España, Inglaterra y Alemania. El análisis categórico temático fue el método de análisis utilizado. Resultados: se encontraron 74 fotografías que retrataban a profesionales de enfermería en diferentes situaciones de trabajo. Fue posible identificar el estigma y la desvalorización social sobre la representación y atribución profesional de esta clase. Además, se constató una subrepresentación de los profesionales negros en los portales brasileños y del hombre como figura destacada en los espacios de reclamos. Consideraciones Finales: las fotografías representaron una importante herramienta para el análisis social de la vulnerabilidad de la enfermería, favoreciendo el develamiento de situaciones que pueden pasar desapercibidas por la enfermería y la sociedad.

RESUMO Objetivos: analisar a vulnerabilidade da enfermagem por meio de fotos divulgadas pela mídia no contexto da pandemia de COVID-19. Métodos: estudo documental, com abordagem qualitativa. O objeto de análise foram imagens fotográficas selecionadas entre janeiro de 2020 e março de 2021, veiculadas pelos principais portais de notícia de países, como Brasil, Estados Unidos, França, Espanha, Inglaterra e Alemanha. A análise categorial temática foi o método de análise utilizado. Resultados: foram encontradas 74 fotografias que retratavam profissionais de enfermagem em diferentes situações de trabalho. Pôde-se identificar o estigma e a desvalorização social acerca da representação e atribuição profissional desta classe. Além disso, foi constatada uma sub-representação de profissionais negras nos portais brasileiros e o homem como a figura de destaque nos espaços de reivindicações. Considerações Finais: as fotografias representaram importante ferramenta para análise social da vulnerabilidade da enfermagem, favorecendo o desvelar de situações que podem passar despercebidas pela profissão e sociedade.

Autonomia da parturiente no contexto da assistência ao trabalho parto induzido: estudo transversal

Propósito/Contexto. Este estudio tiene como objetivo analizar la autonomía de las mujeres en la asistencia al parto inducido. Metodología/Enfoque. Se trata de un estudio transversal realizado desde octubre de 2019 a junio de 2021 mediante la aplicación de un cuestionario electrónico, construido en Google Forms, que contiene preguntas cerradas. Resultados/Hallazgos. 383 mujeres respondieron el cuestionario elaborado por los autores. La edad de los participantes osciló entre los 17 y los 50 años. Entre las participantes, el 28,8 % tuvo trabajo de parto inducido, de las cuales el 12,5 % se sometió a inducción mecánica, el 62,5 % recibió oxitocina y el 25 % prostaglandina/misoprostol. Discusión/Conclusiones/Contribuciones. La autonomía de la mujer embarazada en la realización de su parto es fundamental para que los profesionales actúen con buenas prácticas en la atención del parto.

Objetivo/Contexto. Este estudo tem por objetivo analisar a autonomia da mulher na assistência ao parto induzido. Metodologia/Abordagem. Trata-se de um estudo transversal realizado no período de outubro de 2019 a junho de 2021 por meio da aplicação de um questionário eletrônico, construído no Google Forms, contendo questões fechadas. Resultados/Descobertas. 383 mulheres responderam ao questionário elaborado pelos autores. A idade das participantes variou entre 17 a 50 anos. Dentre as participantes, 28,8 % tiveram o parto induzido, das quais 12,5 % passaram pela indução mecânica, 62,5 % receberam ocitocina e 25 % prostaglandina/ misoprostol. Discussão/Conclusões/Contribuições. A autonomia da parturiente na condução do seu parto é primordial para que os profissionais atuem com boas práticas na assistência ao parto.

Purpose/Context. This study aims to analyze women's autonomy in assisting induced childbirth. Methodology/Approach. This is a sectional study carried out from October 2019 to June 2021 through the application of an electronic questionnaire, built on Google Forms, containing closed questions. Results/Findings. 383 women answered the questionnaire prepared by the authors. The age of the participants ranged from 17 to 50 years. Among the participants, 28.8 % had induced labor, of which 12.5 % underwent mechanical induction, 62.5 % received oxytocin and 25 % prostaglandin/misoprostol. Discussion/Conclusions/Contributions. The parturient's autonomy in conducting her delivery is essential for professionals to act with good practices in childbirth care.

Bioethics in Childbirth Care: Protocol for a Scoping Review.

BACKGROUND: Ensuring women's rights during childbirth care based on humanized and bioethical principles results in better quality of care and patient safety and provides positive childbirth experiences. OBJECTIVE: We aim to explore the available evidence on the application of bioethical principles in the general context of childbirth care. METHODS: Our scoping review will follow the Joanna Briggs Institute Reviewer's Manual. Published and unpublished bibliographic materials will be considered based on the following inclusion criteria: reports of the application of bioethical principles (concept) in assistance to the predelivery, childbirth, and postpartum periods (population) in the hospital context (context). We will search for relevant studies in PubMed and the Virtual Health Library, including MEDLINE, LILACS, BDENF, SCiELO, Web of Science, and Google Scholar. Two reviewers will perform the screening of titles and abstracts, read the full texts, and extract data from the selected articles. The data will then be organized and expressed into categories based on their content. RESULTS: The analyzed data will be presented through flowcharts, tables, and descriptive narratives. A paper summarizing the findings from this review will be published in a peer-reviewed journal. In addition, a synthesis of the key findings will be disseminated to health services linked to university hospitals in Brazil. They will also be shared with the academic community and policy makers involved in the Childbirth Assistance Network, which will potentially adopt our recommendations in their decision-making process regarding childbirth care practice in Brazil. CONCLUSIONS: The findings from this review will inform, through the translation of knowledge, childbirth support groups, feminist movements, movements in favor of humanization of childbirth, and other childbirth support networks in the country. TRIAL REGISTRATION: Open Science Framework; https://osf.io/kczyr/.

CAAos platform: an integrated platform for analysis of cerebral hemodynamics data.

Objective.The purpose of this article is to introduce readers to the concept and structure of the CAAos (CerebralAutoregulationAssessmentOpenSource) platform, and provide evidence of its functionality.Approach.The CAAos platform is a new open-source software research tool, developed in Python 3 language, that combines existing and novel methods for interactive visual inspection, batch processing and analysis of multichannel records. The platform is scalable, allowing for the customization and inclusion of new tools.Main results.Currently, the CAAos platform is composed of two main modules, preprocessing (containing artefact removal, filtering and signal beat to beat extraction tools) and cerebral autoregulation (CA) analysis modules. Two methods for assessing CA have been implemented into the CAAos platform: transfer function analysis (TFA) and the autoregulation index (ARI). In order to provide validation of the TFA and ARI estimates derived from the CAAos platform, the results were compared with those derived from two other algorithms. Validation was performed using data from 28 participants, corresponding to 13 acute ischemic stroke patients and 13 age- and sex-matched control subjects. Agreement between estimates was assessed by intraclass correlation coefficient and Bland-Altman analysis. No significant statistical difference between the algorithms was found. Moreover, there was an excellent correspondence between the curves of all parameters analysed, with the intraclass correlation coefficient ranging from 0.98 (95%CI 0.976-0.999) to 1.00 (95%CI 1 -1). The mean differences revealed a very small magnitude bias indicating an excellent agreement between the estimates.Significance.As open-source software, the source code for the software is freely available for noncommercial use, reducing barriers to performing CA analysis, allowing inspection of the inner-workings of the algorithms, and facilitating networked activities with common standards. The CAAos platform is a tailored software solution for the scientific community in the cerebral hemodynamic field and contributes to the increasing use and reproducibility of CA assessment.

Surgical management of esophageal stenosis due to ingestion of corrosive substances.

BACKGROUND: Corrosive ingestion is a significant challenge for healthcare systems. Limited data are available regarding the best treatments, and there remains a lack of consensus about the optimal surgical approach and its outcomes. This study aims to review the current literature and show a single institution's experience regarding the surgical treatment of esophageal stenosis due to corrosive substance ingestion. METHODS: A retrospective review that accounted for demographics, psychiatric profiles, surgical procedures, and outcomes was performed. A systematic review of the literature was performed using PubMed. RESULTS: In total, 27 surgical procedures for esophageal stenosis due to corrosive substance ingestion were performed from 2010 to 2019. Depression and drug abuse were diagnosed in 30% and 22% of the included patients, respectively. Esophagectomies and esophageal bypasses were performed in 13 and 14 patients, respectively. No 30-day mortality was recorded. CONCLUSION: Surgical intervention either by esophagectomy or esophageal bypass results in durable relief from dysphagia. However, successful clinical outcomes depend on a high-quality multidisciplinary network of esophageal and thoracic surgeons, intensivists, psychologists, psychiatrists, and nutritional teams.

Does the nissen fundoplication procedure improve esophageal dysmotility in patients with barrett's esophagus?

OBJECTIVE: to evaluate esophageal dysmotility (ED) and the extent of Barrett's esophagus (BE) before and after laparoscopic Nissen fundoplication (LNF) in patients previously diagnosed with BE and ED. METHODS: twenty-two patients with BE diagnosed by upper gastrointestinal (GI) endoscopy with biopsies and ED diagnosed by conventional esophageal manometry (CEM) were submitted to a LNF, and followed up with clinical evaluations, upper GI endoscopy with biopsies and CEM, for a minimum of 12 months after the surgical procedure. RESULTS: : sixteen patients were male (72.7%) and six were females (27.3%). The mean age was 55.14 (± 15.52) years old. and the mean postoperative follow-up was 26.2 months. The upper GI endoscopy showed that the mean length of BE was 4.09 cm preoperatively and 3.91cm postoperatively (p=0.042). The evaluation of esophageal dysmotility through conventional manometry showed that: the preoperative median of the lower esophageal sphincter resting pressure (LESRP) was 9.15 mmHg and 13.2 mmHg postoperatively (p=0.006). The preoperative median of the esophageal contraction amplitude was 47.85 mmHg, and 57.50 mmHg postoperatively (p=0.408). Preoperative evaluation of esophageal peristalsis showed that 13.6% of the sample presented diffuse esophageal spasm and 9.1% ineffective esophageal motility. In the postoperative, 4.5% of patients had diffuse esophageal spasm, 13.6% of aperistalsis and 22.7% of ineffective motor activity (p=0.133). CONCLUSION: LNF decreased the BE extension, increased the LES resting pressure, and increased the amplitude of the distal esophageal contraction; however, it was unable to improve ED.

Nitrogen fertilisation influences low CO2 effects on plant performance.

Low atmospheric CO2 conditions prevailed for most of the recent evolutionary history of plants. Such concentrations reduce plant growth compared with modern levels, but low-CO2 effects on plant performance may also be affected by nitrogen availability, since low leaf nitrogen decreases photosynthesis, and CO2 concentrations influence nitrogen assimilation. To investigate the influence of N availability on plant performance at low CO2, we grew Elymus canadensis at ambient (~400 µmol mol-1) and subambient (~180 µmol mol-1) CO2 levels, under four N-treatments: nitrate only; ammonium only; a full and a half mix of nitrate and ammonium. Growth at low CO2 decreased biomass in the full and nitrate treatments, but not in ammonium and half plants. Low CO2 effects on photosynthetic and maximum electron transport rates were influenced by fertilisation, with photosynthesis being most strongly impacted by low CO2 in full plants. Low CO2 reduced stomatal index in half plants, suggesting that the use of this indicator in paleo-inferences can be influenced by N availability. Under low CO2 concentrations, nitrate plants discriminated more against 15N whereas half plants discriminated less against 15N compared with the full treatment, suggesting that N availability should be considered when using N isotopes as paleo-indicators.

Does the nissen fundoplication procedure improve esophageal dysmotility in patients with barrett's esophagus? / A fundoplicatura a nissen melhora a dismotilidade esofágica em pacientes com esôfago de barrett?

ABSTRACT Objective: to evaluate esophageal dysmotility (ED) and the extent of Barrett's esophagus (BE) before and after laparoscopic Nissen fundoplication (LNF) in patients previously diagnosed with BE and ED. Methods: twenty-two patients with BE diagnosed by upper gastrointestinal (GI) endoscopy with biopsies and ED diagnosed by conventional esophageal manometry (CEM) were submitted to a LNF, and followed up with clinical evaluations, upper GI endoscopy with biopsies and CEM, for a minimum of 12 months after the surgical procedure. Results : sixteen patients were male (72.7%) and six were females (27.3%). The mean age was 55.14 (± 15.52) years old. and the mean postoperative follow-up was 26.2 months. The upper GI endoscopy showed that the mean length of BE was 4.09 cm preoperatively and 3.91cm postoperatively (p=0.042). The evaluation of esophageal dysmotility through conventional manometry showed that: the preoperative median of the lower esophageal sphincter resting pressure (LESRP) was 9.15 mmHg and 13.2 mmHg postoperatively (p=0.006). The preoperative median of the esophageal contraction amplitude was 47.85 mmHg, and 57.50 mmHg postoperatively (p=0.408). Preoperative evaluation of esophageal peristalsis showed that 13.6% of the sample presented diffuse esophageal spasm and 9.1% ineffective esophageal motility. In the postoperative, 4.5% of patients had diffuse esophageal spasm, 13.6% of aperistalsis and 22.7% of ineffective motor activity (p=0.133). Conclusion: LNF decreased the BE extension, increased the LES resting pressure, and increased the amplitude of the distal esophageal contraction; however, it was unable to improve ED.

RESUMO Objetivo: avaliar a dismotilidade esofágica (DE) e a extensão do esôfago de Barrett (EB) antes e depois da fundoplicatura laparoscópica a Nissen (FLN) em pacientes previamente diagnosticados com EB e DE. Método: vinte e dois pacientes com EB diagnosticada por endoscopia digestiva alta (EDA) com biópsias e DE diagnosticada por manometria esofágica convencional (MEC) foram submetidos a FLN, e acompanhados por avaliações clínicas, endoscopia digestiva alta com biópsias e MEC, por no mínimo 12 meses após o procedimento cirúrgico. Resultados: dezesseis pacientes eram do sexo masculino (72,7%) e seis do feminino (27,3%). A média de idade foi de 55,14 (± 15,52) anos e o seguimento pós-operatório médio foi de 26,2 meses. A endoscopia digestiva alta mostrou que o comprimento médio do EB foi de 4,09 cm no pré-operatório e 3,91 cm no pós-operatório (p = 0,042). A avaliação da dismotilidade esofágica por meio da manometria convencional mostrou que a mediana pré-operatória da pressão de repouso do esfíncter esofágico inferior (PREEI) foi de 9,15 mmHg, e de 13,2 mmHg no pós-operatório (p = 0,006). A mediana pré-operatória da amplitude de contração esofágica foi de 47,85 mmHg, e de 57,50 mmHg no pós-operatório (p = 0,408). A avaliação pré-operatória do peristaltismo esofágico mostrou que 13,6% da amostra apresentava espasmo esofágico difuso e 9,1%, motilidade esofágica ineficaz. No pós-operatório, 4,5% dos pacientes apresentaram espasmo esofágico difuso, 13,6% de aperistalse e 22,7% de atividade motora ineficaz (p = 0,133). Conclusões: a FLN diminuiu a extensão do EB, aumentou a pressão de repouso do EEI e aumentou a amplitude da contração esofágica distal; no entanto, não foi capaz de melhorar a DE.