Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader-Willi and Angelman Syndromes: A Preliminary Investigation.

BACKGROUND: Diagnosing imprinting defects in neonates and young children presents challenges, often necessitating molecular analysis for a conclusive diagnosis. The isolation of genetic material from oral swabs becomes crucial, especially in settings where blood sample collection is impractical or for vulnerable populations like newborns, who possess limited blood volumes and are often too fragile for invasive procedures. Oral swab samples emerge as an excellent source of DNA, effectively overcoming obstacles associated with rare diseases. METHODS: In our study, we specifically addressed the determination of the quality and quantity of DNA extracted from oral swab samples using NaCl procedures. RESULTS: We compared these results with extractions performed using a commercial kit. Subsequently, the obtained material underwent MS-HRM analysis for loci associated with imprinting diseases such as Prader-Willi and Angelman syndromes. CONCLUSIONS: Our study emphasizes the significance of oral swab samples as a reliable source for obtaining DNA for MS-HRM analysis. NaCl extraction stands out as a practical and cost-effective method for genetic studies, contributing to a molecular diagnosis that proves particularly beneficial for patients facing delays in characterization, ultimately influencing their treatment.

Second-look upper endoscopy as the initial approach to subepithelial lesions: a reassuring and reliable strategy.

BACKGROUND: Although endoscopic ultrasound (EUS) plays a critical role in the management of subepithelial lesions (SEL) of upper gastrointestinal tract many can be classified solely by a thorough upper gastrointestinal endoscopy (UGE) which can reduce the burden of additional studies. AIMS: Analyze the impact of a stepwise approach starting with a second-look UGE before the decision of EUS in patients referred to our center with suspected SEL. METHODS: Retrospective cohort study which included all adult patients referred to our center between 2015 and 2020 with suspected SEL.Second-look UGE evaluated the location, size, color, surface characteristics, movability and consistency of the SEL and bite-on-bite biopsies were performed. Decisions on SEL management and follow-up were collected. RESULTS: A total of 193 SEL (190 patients) were included. At the index-UGE, stomach was the most frequent location (n = 115;59.6%). Most patients performed a second-look UGE (n = 180; 94.7%). A minority was oriented directly to EUS (n = 8;4.2%) or endoscopic resection (n = 2; 1.1%). In patients who underwent a second-look UGE, SEL were excluded in 25 (13.9%) and 21 (11.7%) did not need further work-up. The remaining patients were submitted to EUS (n = 88;48.9%), surveillance by UGE (n = 44; 24.4%) or endoscopic resection (n = 2; 1.1%). CONCLUSION: Systematically performing a second-look UGE, in patients referred with suspected SEL, safely preclude the need for subsequent investigation in approximately one-fourth of the patients. As UGE is less invasive and more readily available, we suggest that a second-look UGE should be the initial approach in SEL management.

"Grey areas" in large rectal neuroendocrine tumors: when endoscopic ultrasound becomes the silver lining.

A 50-years old male with irrelevant medical history underwent colonoscopy for colorectal cancer screening. On the distal rectum, a subpedunculated (Paris classification Isp) lesion with 15mm was detected. This lesion presented yellowish mucosa and had irregular surfaces, suggesting a subepithelial lesion. Bite-on-bite biopsy confirmed a well-differentiated neuroendocrine tumor (r-NET), positive for synaptophysin, with a low-proliferative index. As r-NETs with 10-20mm fall on a grey area between endoscopic or surgical treatment, a lower endoscopic ultrasound (EUS) was performed, showing a round hypoechoic "salt and pepper" lesion of the mucosa, with focal involvement of the submucosa (3rd layer), but without muscularis propria invasion or regional lymph node involvement (uT1N0). No distal metastases were detected on computed tomography. Thus, the patient was proposed for endoscopic submucosal dissection. With this case we aim to recall EUS importance in large r-NETs, as adequate staging is crucial when deciding optimal therapeutic options.

Reply to comment on "Ultrasonographic scores for ileal Crohn's disease assessment: better, worse or the same as contrast­enhanced ultrasound?

We read the comments by Nylund K et al. regarding our paper "Ultrasonographic scores for ileal Crohn's disease assessment: Better, worse or the same as contrast­enhanced ultrasound?". Intestinal ultrasound has become one of the most valuable developments in the past decade, a non-invasive, well-tolerated exam, with an easy repeatability, and absence of sedation, ionizing radiation, or preparation. Particularly for inflammatory bowel disease, where there is a lack of agreement of patient's symptoms with disease activity, in an era where the paradigm of mucosal healing is changing to transmural healing, and with the emergence of several therapies leading to repeated imaging surveillance, it is essential to highlight the role of intestinal ultrasound. Although intestinal ultrasound is an increasingly used tool to monitor inflammatory bowel disease activity, there is no widely accepted reproducible activity index, since the methodology for the development of the scores was shown to be insufficient in most studies and none have been adequately validated (Bots et al., J Crohns Colitis 12:920-9, 2018). In our study, we showed that the contrast-enhanced ultrasound (CEUS) peak enhancement derived from the time-intensity curve (TIC) is a promising non-invasive emerging method with a good accuracy to correlate clinical and endoscopic activity in the terminal ileum, superior to intestinal ultrasound scores relying on bowel wall thickness and colour Doppler.

Protocolo clínico e diretrizes terapêuticas do uso de "Cannabis" medicinal para epilepsia de difícil controle em pacientes infatojuvenis / Clinical protocol and therapeutic guidelines for the use of medicinal cannabis for difficult-to-control epilepsy in children and adolescents

Este documento apresenta Protocolo clínico e diretrizes terapêuticas do uso de "Cannabis" - Canabidiol (CBD) medicinal para epilepsia de difícil controle em pacientes infantojuvenis, no âmbito do Estado do Maranhão. O protocolo é o resultado do esforço coletivo da equipe técnica da Secretaria de Estado da Saúde do Maranhão, por meio da Secretaria Adjunta de Assistência à Saúde que contou, no processo de elaboração, com a consultoria técnica de profissionais especialistas com larga experiência e atuação na área assistencial de prestação do cuidado aos pacientes acometidos por epilepsia. As condutas aqui recomendadas são baseadas em evidências que têm motivado a regulamentação do uso clínico de extratos padronizados contendo canabidiol para tratamento de casos graves de epilepsia no Brasil e devem servir como orientação de conduta diagnóstica e terapêutica, sempre levando em conta os aspectos individuais de cada paciente.

GRUPUGE PERSPECTIVE: Endoscopic Ultrasound-Guided Biliary Drainage.

Endoscopic ultrasound-guided biliary drainage (EUS-BD) is an alternative to percutaneous and surgical drainage in bile duct obstruction when endoscopic retrograde cholangiopancreatography fails. EUS-BD can be achieved with several techniques, including EUS-guided hepaticogastrostomy (HGS), anterograde transpapillary stent placement, choledochoduodenostomy (CDS), and rendez-vous technique. Lately, with increased experience and development of directed equipment, elevated technical and clinical success as well of lower adverse event rates have been reported. In this article, GRUPUGE presents an updated perspective of the potential role of EUS-guided biliary drainage, addressing the selection criteria and technical issues of different techniques and analyzing recent data on their safety and efficacy.

A drenagem biliar guiada por ecoendoscopia é uma alternativa à drenagem percutânea ou cirúrgica em casos de obstrução biliar, quando a colangiopancreatografia retrógrada endoscópica (CPRE) falha. Esta poderá ser realizada através de diversas técnicas, incluindo a hepatogastrostomia, colocação de prótese transpapilar por via anterógrada, coledocoduodenostomia e técnica de rendez-vous. Recentemente, têm sido reportadas elevadas taxas de sucesso técnico e clínico, assim como uma menor taxa de efeitos adversos, em relação com o aumento da experiência local e desenvolvimento de dispositivos especializados. No presente artigo, o GRUPUGE apresenta uma perspetiva atual do potencial papel da drenagem biliar guiada por ecoendoscopia, focando aspetos relativos à seleção dos doentes, questões técnicas dos vários procedimentos disponíveis e analisando dados emergentes relativos à sua segurança e eficácia.

GRUPUGE Perspective: Endoscopic Ultrasound-Guided Fine-Needle Tattooing and Fiducial Placement in Pancreatic Cancer.

In the last 2 decades, endoscopic ultrasound (EUS) has become an important procedure for the diagnosis and management of several pancreatic diseases, including pancreatic cancer. This article presents two recently developed EUS-guided techniques for the management of pancreatic cancer: fine-needle tattooing and fiducial placement. Preoperative EUS-guided fine-needle tattooing of small pancreatic tumors helps in precise localization of these lesions during surgery, potentially ensuring adequate margins of resection while preserving healthy pancreatic tissue. In pancreatic cancer patients planned for imaging-guided radiation therapy, EUS-guided fiducial placement improves the accuracy of target delineation during stereotactic body radiation therapy (SBRT). Hydrogel, a new injectable liquid with multimodal visibility recently approved as a liquid fiducial, is currently under investigation in pancreatic head cancer as an EUS-injected spacer to potentially reduce SBRT gastrointestinal wall toxicity. In this article, GRUPUGE presents an updated perspective of these two EUS-guided techniques, addressing their current clinical applications and technical aspects and analyzing existing data on their efficacy and safety.

Durante as duas últimas décadas, a ecoendoscopia tor-nou-se um procedimento importante para o diagnóstico e abordagem de diversas doenças pancreáticas, incluindo o cancro do páncreas. Neste artigo sao apresentadas duas técnicas guiadas por ecoendoscopia desenvolvidas recentemente na abordagem do cancro do páncreas: tatuagem com agulha fina e marcação com fiduciais. A tatuagem pré-operatória com agulha fina guiada por ecoendoscopia de pequenos tumores pancreáticos ajuda na localização precisa destas lesões durante a cirurgia, potencialmente assegurando margens de resseção adequa-das e preservando parênquima pancreático saudável. Nos doentes com cancro do pêncreas com indicação para radioterapia guiada por imagem, a marcação com fiduciais guiada por ecoendoscopia melhora a acuidade da radioterapia estereotáxica corporal na delineação do alvo. O hidrogel, um novo líquido injetável com visibilidade multimodal recentemente aprovado como marcador fiducial, está atualmente em investigação como um espaçador injetado por ecoendoscopia no cancro da cabeça do páncreas para potencialmente reduzir a toxicidade da radioterapia estereotáxica corporal sobre a parede gastrointestinal. Neste artigo, o GRUPUGE apresenta uma perspetiva atualizada destas duas técnicas guiadas por ecoendoscopia, abordando as suas atuais aplicações clínicas e aspetos técnicos e analisando os dados existentes sobre a sua eficácia e segurança.

US-FLI score - Is it possible to predict the steatosis grade with an ultrasonographic score?

OBJECTIVES: A recent ultrasonographic score (Ultrasonographic fatty liver indicator (US-FLI)) allows to grade steatosis severity on ultrasound (US).We aimed to evaluate the agreement of US-FLI with the controlled attenuation parameter (CAP) in patients with non-alcoholic fatty liver disease (NAFLD). METHODS: Initially, inter-observer agreement for the score was assessed between 3 physicians using a sample of 31 patients.Later, 96 patients with NAFLD were included and several anthropometric/clinical/analytical parameters were assessed and US and transient elastography was performed. RESULTS: Physicians showed an excellent absolute agreement regarding the total score, with an average Interclass Correlation Coefficient of 0.972(95% CI 0.949-0.986). Comparing US-FLI with CAP, considering the previously defined cut-off for steatosis >S1(268dB/m) and > S2(280dB/m), US-FLI had a good discriminative capacity for both grades, with areas under the curve (AUC) of 0.88(p < 0.001) and 0.90(p < 0.001), respectively.Also, US-FLI ≤ 3 points had a negative predictive value of 100% for steatosis >S2 and US-FLI ≥6 points had a positive predictive value (PPV) of 94.0% for steatosis >S2. When comparing the clinical score Fatty Liver Index (FLI) for the same CAP cut-offs, it showed a weak discriminative capacity for both grades, with AUC of 0.65(p = 0.030) and 0.66(p = 0.017). AUC for US-FLI and FLI were significantly different for both cut-offs (p < 0.001). CONCLUSION: US-FLI has an excellent reproducibility and a good discriminative capacity for the different steatosis grades.Scores ≤3points exclude significant steatosis and scores ≥6 points have a PPV of 94,0% for steatosis >S2.US-FLI was significantly superior to the clinical score FLI in the discrimination between steatosis grades.

Endoscopic Ultrasound-Guided Ablation of Focal Pancreatic Lesions: The GRUPUGE Perspective.

Focal pancreatic lesions include a heterogeneous group of solid and cystic lesions, with different natures and variable clinical, imagiological, and pathological characteristics. Several endoscopic ultrasound (EUS)-guided ablative techniques have been tested during the last decade for the treatment of these pancreatic lesions, mostly consisting of the injection of ablative agents and, more recently, radiofrequency ablation. The most encouraging EUS-guided ablation outcomes are being reached in the treatment of some pancreatic cystic neoplasms and small (≤2 cm) pancreatic neuroendocrine tumours (pNETs). Data supporting a potential role of ablative therapies in the treatment of pancreatic ductal adenocarcinoma is still lacking. In this article, GRUPUGE presents an updated perspective of the potential role of EUS-guided ablation for the treatment of pancreatic cystic neoplasms and pNETs, addressing the selection criteria and technical issues of different techniques and analysing recent data on their safety and efficacy.

As lesões focais do pâncreas integram grupos heterogéneos de lesões sólidas e quísticas, de diferentes naturezas e com características clínicas, imagiológicas e patológicas variáveis. Na última década foram avaliadas diversas técnicas ablativas guiadas por ecoendoscopia para o tratamento destas lesões pancreáticas focais, consistindo maioritariamente na injeção de agentes ablativos e, mais recentemente, na ablação por radiofrequência. Os resultados mais promissores das técnicas ablativas guiadas por ecoendoscopia têm surgido no tratamento de algumas lesões quísticas do pâncreas e pequenos tumores neuro-endócrinos pancreáticos (≤2 cm). Ainda existem poucos dados a suportar um potencial papel das terapêuticas ablativas no tratamento do adenocarcinoma ductal do pancreas. No presente artigo o GRUPUGE apresentada uma perspectiva atual do potencial papel da ablação guiada por ecoendoscopia no tratamento de neoplasias quísticas do pâncreas e de tumores neuro-endócrinos pancreáticos, focando aspectos relativos à seleção dos doentes, questões técnicas dos vários procedimentos disponíveis e analisando dados recentes relativos à sua segurança e eficácia.

GRUPUGE Perspective: Endoscopic Ultrasound-Guided Drainage of Peripancreatic Collections.

Pancreatic and peripancreatic collections (PPC) are a known complication of acute pancreatitis. They are categorized into four types of collection: (1) acute peripancreatic fluid collection, (2) pseudocyst, (3) acute necrotic collection and (4) walled-off necrosis. Most PPC resolve spontaneously or are persistent but asymptomatic. Intervention is needed in a minority of patients with infected or symptomatic collection. Endoscopic ultrasound-guided transmural drainage is currently the first-line treatment option for PPC management. It has shown great technical and clinical success, similar to percutaneous or surgical approaches, but with lower morbidity and costs and better quality of life. In this review article, the GRUPUGE presents an updated perspective on the potential role of endoscopic ultrasound-guided drainage of peripancreatic collections, addressing the selection criteria and the technical issues of different techniques and analysing emerging data on their efficacy and safety.

As coleções pancreáticas e peripancreáticas constituem uma complicação conhecida de pancreatite aguda. As coleções são classificadas em quatro tipos: (1) coleção líquida peripancreática aguda, (2) pseudoquisto, (3) coleção necrótica aguda e (4) coleção necrótica encapsulada (walled-off necrosis). A maioria das coleções peripancreáticas resolvem espontaneamente ou mantém-se assintomáticas. A drenagem está indicada numa minoria de doentes em que a coleção infecta ou se torna sintomática. A drenagem de coleções peripancreáticas guiada por ecoendoscopia é atualmente considerada a primeira linha de tratamento. Os procedimentos guiados por ecoendoscopia têm mostrado uma elevada taxa de sucesso técnico e clínico, semelhante às abordagens cirúrgica e percutânea, mas está associada a menor morbilidade e custos e a melhor qualidade de vida. Neste artigo de revisão, o GRUPUGE apresenta uma perspetiva atualizada do papel da ecoendoscopia na drenagem de coleções peripancreáticas, abordando critérios de seleção e questões técnicas relativas aos diferentes procedimentos, e analisando os dados disponíveis sobre a sua eficácia e segurança.

Endoscopic Ultrasound-Guided Celiac Plexus Interventions.

Abdominal pain related to pancreatic disease is often extremely disabling. Endoscopic ultrasound (EUS)-guided celiac plexus block (CPB) is used to control pain associated with chronic pancreatitis. EUS-guided celiac plexus neurolysis (CPN) is typically used to reduce pain associated with pancreatic cancer and can be considered early at the time of diagnosis of inoperable disease. EUS-guided celiac plexus interventions have been shown to be significantly effective in pancreatic pain relief, which is achieved in approximately 70-80% of patients with pancreatic cancer and in 50-60% of those with chronic pancreatitis. Serious complications from CPB and CPN are rare. Most frequent adverse events are diarrhoea, orthostatic hypotension, and a transient increase in abdominal pain. In this article, the Portuguese Group for Ultrasound in Gastroenterology (GRUPUGE) presents an updated perspective of the potential role of EUS-guided celiac plexus interventions, addressing the selection criteria and technical issues of different techniques and analysing recent data on their safety and efficacy.

A dor abdominal relacionada com doença pancreática pode ser extremamente incapacitante. O bloqueio do plexo celíaco (CPB) guiado por ecoendoscopia (EUS) é utilizado para controlo da dor associada à pancreatite crónica. A neurólise do plexo celíaco (CPN) guiada por EUS é utilizada na terapêutica da dor associada ao cancro do pâncreas, podendo ser utilizada numa fase precoce, após o diagnóstico de doença irressecável. As intervenções no plexo celíaco guiadas por EUS demonstraram ser eficazes no alívio da dor. O sucesso terapêutico é alcançado em aproximadamente 70 a 80% dos pacientes com cancro do pâncreas, e em 50 a 60% dos pacientes com pancreatite crónica. São raras as complicações severas associadas a CPB e CPN. Os eventos adversos mais frequentemente documentados correspondem a diarreia, hipotensão ortostática e a aumento transitório da dor abdominal. Neste artigo, o GRUPUGE apresenta uma perspetiva das intervenções no plexo celíaco guiadas por EUS, onde se abordam os critérios de seleção, questões técnicas relativas aos procedimentos e se analisam os dados sobre sua segurança e eficácia.

Low fecal calprotectin predicts clinical remission in Crohn's disease patients: the simple answer to a challenging question.

BACKGROUND AND AIM: Fecal calprotectin (FC) is a noninvasive marker of intestinal inflammation. Predicting relapses in Crohn's disease (CD) patients can allow earlier changes in therapy. The aim of this study was to evaluate the role of FC in predicting relapse in CD patients in clinical remission within six months follow-up. METHODS: Patients with CD who were in clinical remission at least ≥3 months were included in this study. The first FC sample during the remission period was evaluated and was used as the baseline value. Relapse was defined as an unexpected escalation in therapy, hospitalization or need for surgery for active CD. The accuracy and optimal cutoff FC values for predicting clinical relapse at six months were assessed by the area under the ROC curve (AUC). RESULTS: One hundred and forty-four patients were evaluated, with mean age of 38.4 years. Of these, 13 (9%) had a relapse during the follow-up period. The mean FC value was significantly lower for non-relapsers (203.2 µg/g) than for relapsers (871.3 µg/g), p < .001. The AUC for predicting relapse by using FC values was 0.924. The optimal cutoff FC value to predict relapse was 327 µg/g; with values of sensitivity, specificity, negative predictive value and positive predictive value were 92.3%, 82.4%, 99.1% and 34.3%, respectively. CONCLUSIONS: FC is more useful in predicting remission maintenance than relapse in patients with CD in clinical remission. Values of FC ≤327 µg/g can exclude relapse at least at six months follow-up period.

Instrumentos de avaliação do desempenho de estudantes de um curso de medicina / Instruments for evaluating the performance of students of a medicine course / Instrumentos de evaluación del rendimiento de estudiantes de un curso de medicina

Introdução: A avaliação do desempenho do estudante constitui, possivelmente, a etapa de maior relevância em todo o processo educacional, permitindo a obtenção de informações sobre o aprendizado e subsidiando a tomada de decisões que, muitas vezes, são críticas para a vida do estudante. Objetivos: Descrever os instrumentos de avaliação do desempenho estudantil e comparar resultados com propostas das Diretrizes Curriculares Nacionais. Material e Método: Estudo transversal, descritivo, realizado através da aplicação de questionário aos docentes de todas as disciplinas do ciclo básico do curso de Medicina do Centro Universitário Padre Albino (UNIFIPA), de Catanduva-SP, no período de jun. a nov. 2017...(AU)

Endoscopic ultrasonography - emerging applications in hepatology.

The inspection of the liver is a valuable part of the upper endoscopic ultrasonography (EUS) studies, regardless of the primary indication for the examination. The detailed images of the liver segments provided by EUS allows the use of this technique in the study of parenchymal liver disease and even in the diagnosis and classification of focal liver lesions. EUS has also emerged as an important tool in understanding the complex collateral circulation in patients with portal hypertension and their clinical and prognostic value. Recently, EUS-guided portal vein catheterization has been performed for direct portal pressure measurement as an alternative method to evaluate portal hemodynamics. In this review, the authors summarize the available evidence regarding the application of EUS to patients with liver diseases and how we can apply it in our current clinical practice.

Copper(II) Complexes of Phenanthroline and Histidine Containing Ligands: Synthesis, Characterization and Evaluation of their DNA Cleavage and Cytotoxic Activity.

Copper(II) complexes have been intensely investigated in a variety of diseases and pathological conditions due to their therapeutic potential. The development of these complexes requires a good knowledge of metal coordination chemistry and ligand design to control species distribution in solution and tailor the copper(II) centers in the right environment for the desired biological activity. Herein we present the synthesis and characterization of two ligands HL1 and H2L2 containing a phenanthroline unit (phen) attached to the amino group of histidine (His). Their copper(II) coordination properties were studied using potentiometry, spectroscopy techniques (UV-vis and EPR), mass spectrometry (ESI-MS) and DFT calculations. The data showed the formation of single copper complexes, [CuL1]+ and [CuL2], with high stability within a large pH range (from 3.0 to 9.0 for [CuL1]+ and from 4.5 to 10.0 for [CuL2]). In both complexes the Cu2+ ion is bound to the phen unit, the imidazole ring and the deprotonated amide group, and displays a distorted square pyramidal geometry as confirmed by single crystal X-ray crystallography. Interestingly, despite having similar structures, these copper complexes show different redox potentials, DNA cleavage properties and cytotoxic activity against different cancer cell lines (human ovarian (A2780), its cisplatin-resistant variant (A2780cisR) and human breast (MCF7) cancer cell lines). The [CuL2] complex has lower reduction potential (Epc= -0.722 V vs -0.452 V for [CuL1]+) but higher biological activity. These results highlight the effect of different pendant functional groups (carboxylate vs amide), placed out of the coordination sphere, in the properties of these copper complexes.

The Role of Endoscopic Ultrasound in the Diagnostic Assessment of Subepithelial Lesions of the Upper Gastrointestinal Tract.

INTRODUCTION: The identification of subepithelial lesions is a relatively frequent finding at endoscopy however their natural history is not well known. Our aim was to analyze the role of endoscopic ultrasound (EUS) in the diagnostic approach of subepithelial lesions of the upper gastrointestinal tract. METHODS: Retrospective study which included 324 patients undergoing upper radial EUS for evaluation of subepithelial lesions from 2008 to 2014. The EUS features, presumptive diagnosis and management decision were analyzed. RESULTS: 324 patients included, 60% with gastric subepithelial lesions, 28% oesophageal and 12% from the duodenum. Based on EUS features the presumptive diagnosis was: 25% gastrointestinal stromal tumor, 21% lipoma, 19% leiomyoma, 17% pancreatic rest, 7% submucosa cysts, 1% granular cell tumors, 1% carcinoids, 1% mucosa lesions and 8% not defined. After EUS the suggested approach was no follow-up in 45%, follow-up with re-examination with EUS in 35% and additional tissue sampling or endoscopic/surgical resection in 20%. The latter was based on EUS features of risk at the diagnosis (53%), such as size ≥2 cm, hypoechogenicity, heterogeneity, lobulation, calcifications, cystic component and regional adenopathies; impossibility to define a presumptive diagnosis (39%) or EUS features change at follow-up (8%). The combination of multiple features correlated with a higher probability of this recommended strategy (p < 0.001), in 100% when 4 or more features were present. Among the 33 patients who underwent fine needle aspiration, in 66% the result was inconclusive. During follow-up, none of the patients who were managed with surveillance radial EUS presented complications. CONCLUSION: EUS is the method of choice in the study of subepithelial lesions of the upper gastrointestinal tract, in most cases defining a diagnosis. The need for a definitive diagnosis or therapeutic approaches can be based on ultrasound risk features, presented, in the majority, at presentation. This study shows that EUS is capable of safely and accurately define those subepithelial lesions that can be managed only with surveillance ultrasound while waiting for better results with fine needle aspiration.

INTRODUÇÃO: As lesões subepiteliais (LS) são achados frequentes, particularmente no trato digestivo alto. Incluem um grande número de entidades, algumas com potencial maligno, cuja história natural não é totalmente conhecida e o adequado manejo controverso. O nosso objetivo foi analisar o papel da ultrassonografia endoscópica (EUS) na abordagem diagnóstica das LS do trato digestivo alto. MATERIAL: Estudo retrospetivo de doentes consecutivos submetidos a EUS alta para estudo diagnóstico de LS entre 2008-2014. Analisadas as características ultrassonográficas e a orientação definida. RESULTADOS: Incluídos 324 doentes, 60% com LS gástrica, 28% esofágica e 12% duodenal. O diagnóstico segundo as características ultrassonográficas foi: GIST 25%, lipoma 21%, leiomioma 19%, pâncreas ectópico 17%, quisto submucosa 7%, tumor células granulares 1%, carcinoide 1%, lesões da mucosa 1% e em 8% indefinido. A orientação proposta após EUS foi em 35% de vigilância e em 20% intervenção diagnóstica/terapêutica (punção aspirativa agulha fina - PAAF ou ressecção cirúrgica/endoscópica). Esta última por características EUS de agressividade no diagnóstico (53%), diagnóstico indefinido em EUS (39%) ou alterações de tamanho em EUS subsequentes (8%). As características EUS associadas significativamente à decisão de PAAF/ressecção foram: tamanho, hipoecogenicidade, heterogeneidade, bordos irregulares, calcificações, componente quístico e adenopatias. A associação de várias características associou-se a maior percentagem de doentes submetidos a esta abordagem (p < 0,001), em 100% quando 4 ou mais critérios. Nos 33 doentes submetidos a PAAF, em 66% o diagnóstico foi inconclusivo. Em todas as LSE orientadas para vigilância não se verificaram intercorrências neste período. CONCLUSÃO: A EUS é o método de eleição no estudo das LS do trato digestivo alto, na maioria definindo um diagnóstico. A abordagem diagnóstica definitiva ou terapêutica, pode ser baseada na associação de características ultrassonográficas de agressividade, apresentadas na maioria logo no diagnóstico inicial. Foi demonstrada segurança nas LSE orientadas para vigilância e a necessidade de aguardar melhores resultados com PAAF.

Disability in Inflammatory Bowel Disease: Translation to Portuguese and Validation of the "Inflammatory Bowel Disease - Disability Score".

BACKGROUND: Inflammatory bowel disease (IBD) has a physical, psychological and social impact, often compromising the patient's ability to perform daily activities. Recently a new measurement for disability in IBD was developed. The Inflammatory Bowel Disease-Disability Score (IBD-DS) comprises the following domains: mobility, self-care, major daily life activities, gastrointestinal-related problems, mental health and interaction with the environment. The aim of our study was to translate to Portuguese and to validate the IBD-DS. METHODS: Eighty-five patients, 55 with Crohn's disease (CD) and 30 with ulcerative colitis (UC), completed the Portuguese version of the IBD-DS and the short inflammatory bowel disease questionnaire (SIBDQ-10 questions). Disease activity was assessed using the Harvey-Bradshaw (HB) for CD and partial Mayo score (pMayo) for UC. Pearson's correlation coefficient was used to assess the correlation between the IBD-DS and SIBDQ. The Student's t-test was used to compare the mean of IBD-DS between active and inactive disease. Statistical analysis was performed with SPSS 21.0 and the statistical level of significance (α) was established at 5%. RESULTS: In our study, a significant negative correlation between the IBD-DS and the SIBDQ was observed (r = -0.858, p < 0.001 for CD and r = -0.933, p < 0.001 for UC). There was a statistically significant difference of the mean of IBD-DS between inactive vs. active disease (93.78 vs. 117.57, p = 0.016 for CD and 78.96 vs. 137.14, p < 0.001 for UC). CONCLUSION: The Portuguese version of the inflammatory bowel disease-disability score has a strong correlation with patients' quality of life and clinical disease activity and was shown to be a valid tool to measure disability in patients with inflammatory bowel disease.

INTRODUÇÃO: O impacto físico, psicológico e social da doença inflamatória intestinal (DII) compromete frequentemente a capacidade do doente realizar as suas atividades de vida diária. Foi desenvolvido recentemente um novo questionário de avaliação de incapacidade na DII. O "Inflammatory Bowel Disease ­ Disability Score" (IBD-DS) contempla a avaliação de diferentes domínios de incapacidade na DII: mobilidade, autocuidado, principais atividades de vida diária, saúde mental, problemas gastrointestinais e impacto social. O objetivo deste estudo foi a tradução do IBD-DS para a língua portuguesa e a validação das suas propriedades de avaliação de incapacidade em doentes portugueses com DII. MATERIAL E MÉTODOS: Um total de 85 doentes, 55 com doença de Crohn (DC) e 30 com colite ulcerosa (CU), preencheram a versão portuguesa do IBD-DS e um questionário de qualidade de vida na DII (SIBDQ-10 questões). A actividade da doença foi avaliada usando o índice de Harvey­Bradshaw (HB) para a DC, e o score parcial de Mayo (pMayo) para a CU. A correlação entre o IBD-DS e o SIBDQ foi determinada através do coeficiente de correlação de Pearson. O teste t para amostras independentes foi utilizado para comparar a média do IBD-DS entre os doentes com doença ativa e inativa. A análise estatística foi realizada com o SPSS 21.0, o nível de significância (α) foi estabelecido em 5%. RESULTADOS: No nosso estudo verificou-se uma forte correlação negativa entre o IBD-DS e o SIBDQ (r = −0.858, p < 0,001 para a DC e r = −0.933, p < 0,001 para a CU). Foi observada uma diferença estatisticamente significativa do valor médio do IBD-DS entre doentes com doença inativa vs. ativa (93.78 vs. 117.57, p = 0,016 para a DC e 78.96 vs. 137.14, p < 0,001 para a CU). CONCLUSÃO: A versão portuguesa do IBD-DS apresentou uma boa correlação com a qualidade de vida e atividade da DII, apresentando-se, deste modo, como uma ferramenta válida na avaliação de incapacidade na DII.

Treatment of inflammatory bowel disease: is your patient at risk of non-adherence?

INTRODUCTION: Adherence to therapy is a key factor when analyzing the efficacy of a treatment in clinical practice. The aim of our study was to assess the frequency of non-adherence to treatment among patients with inflammatory bowel disease and evaluate which factors could be related. MATERIAL AND METHODS: One hundred thirty eight consecutive inflammatory bowel disease outpatients (55.8% with Crohn's disease and 44.2% with Ulcerative Colitis) filled in an anonymous questionnaire, which included information about demography, duration of the disease, specific therapy for inflammatory bowel disease, and data possibly related to extent of non-adherence to treatment. Statistics were performed with SPSS v.18.0. Categorical variables were compared with Fisher's exact test. A p value < 0.05 was considered statistically significant. Significant variables in univariate analysis were included in the logistic regression analysis. RESULTS: Overall non-adherence was reported by 29.7% of patients. 70.7% of them reported unintentional non-adherence and 51.2% forgot at least one dose per week. Non-adherence was statistically associated with: short disease duration (p < 0.001); young age (p = 0.001); topical aminosalicylates (p = 0.005); the perception that medical therapy isn't effective enough (p = 0.007) and high educational level (p = 0.011). In a logistic regression analysis, topical aminosalicylates use (p = 0.004), short disease duration (p = 0.006) and young age (p = 0.027) were identified as significant predictors of non-adherence. DISCUSSION: Young patients, patients with short disease duration and under topical aminosalicyates presented a higher risk for nonadherence to treatment. CONCLUSIONS: Gastroenterologist's attention should be focused on the identification of risk factors potentially involved in non-adherence to therapy and in the promotion of measures to improve it.

Introdução: A adesão à terapêutica é um aspecto chave para a eficácia da terapêutica. O objectivo deste estudo foi avaliar a frequência e factores de risco associados à não adesão à terapêutica na doença inflamatória intestinal.Material e Métodos: Cento e trinta e oito doentes com doença inflamatória intestinal (55,8% com Doença de Crohn e 44,2% com Colite Ulcerosa) preencheram um questionário sobre dados referentes à sua doença e comportamentos de não adesão ao tratamento. A análise estatística foi realizada com SPSS 18, a associação entre variáveis categóricas foi determinada através do teste exato de Fisher. Variáveis estatisticamente significativas na análise univariada foram incluídas no modelo de regressão logística.Resultados: A não-adesão à terapêutica foi registada em 29,7% dos doentes. Em 70,7% dos casos foram referidos comportamentos não intencionais e 51,2% esqueceram pelo menos uma dose por semana. A não-adesão à terapêutica apresentou uma associação significativa com o diagnóstico recente da doença (p < 0,001), idade jovem (p = 0,001), aminossalicilatos tópicos (p = 0,005), percepção individual de baixa eficácia da terapêutica (p = 0,007) e uma escolaridade elevada (p = 0,011). No modelo de regressão logística os aminossalicilatos tópicos (p = 0,004), o diagnóstico recente da doença (p = 0,006) e a idade jovem (p = 0,027), foram identificados como preditores de não adesão à terapêutica.Discussão: Doentes jovens, com diagnóstico recente e sob terapêutica com aminossalicilatos tópicos apresentaram um maior risco para comportamentos de não adesão.Conclusões: A atenção dos gastrenterologistas deve focar-se na identificação dos fatores de risco envolvidos na não adesão e na promoção de medidas que contribuam para a diminuição da mesma.

Virtual chromoendoscopy in small bowel capsule endoscopy: New light or a cast of shadow?

AIM: To evaluate whether virtual chromoendoscopy can improve the delineation of small bowel lesions previously detected by conventional white light small bowel capsule endoscopy (SBCE). METHODS: Retrospective single center study. One hundred lesions selected from forty-nine consecutive conventional white light SBCE (SBCE-WL) examinations were included. Lesions were reviewed at three Flexible Spectral Imaging Color Enhancement (FICE) settings and Blue Filter (BF) by two gastroenterologists with experience in SBCE, blinded to each other's findings, who ranked the quality of delineation as better, equivalent or worse than conventional SBCE-WL. Inter-observer percentage of agreement was determined and analyzed with Fleiss Kappa (κ) coefficient. Lesions selected for the study included angioectasias (n = 39), ulcers/erosions (n = 49) and villous edema/atrophy (n = 12). RESULTS: Overall, the delineation of lesions was improved in 77% of cases with FICE 1, 74% with FICE 2, 41% with FICE 3 and 39% with the BF, with a percentage of agreement between investigators of 89% (κ = 0.833), 85% (κ = 0.764), 66% (κ = 0.486) and 79% (κ = 0.593), respectively. FICE 1 improved the delineation of 97.4% of angioectasias, 63.3% of ulcers/erosions and 66.7% of villous edema/atrophy with a percentage of agreement of 97.4% (κ = 0.910), 81.6% (κ = 0.714) and 91.7% (κ = 0.815), respectively. FICE 2 improved the delineation of 97.4% of angioectasias, 57.1% of ulcers/erosions and 66.7% of villous edema/atrophy, with a percentage of agreement of 89.7% (κ = 0.802), 79,6% (κ = 0.703) and 91.7% (κ = 0.815), respectively. FICE 3 improved the delineation of 46.2% of angioectasias, 24.5% of ulcers/erosions and none of the cases of villous edema/atrophy, with a percentage of agreement of 53.8% [κ = not available (NA)], 75.5% (κ = NA) and 66.7% (κ = 0.304), respectively. The BF improved the delineation of 15.4% of angioectasias, 61.2% of ulcers/erosions and 25% of villous edema/atrophy, with a percentage of agreement of 76.9% (κ = 0.558), 81.6% (κ = 0.570) and 25.0% (κ = NA), respectively. CONCLUSION: Virtual chromoendoscopy can improve the delineation of angioectasias, ulcers/erosions and villous edema/atrophy detected by SBCE, with almost perfect interobserver agreement for FICE 1.