Small Bowel Villous Atrophy in a Young Patient: A Challenging Diagnosis.

Common variable immunodeficiency enteropathy is a sprue-like disease, which may manifest as a severe malabsorption syndrome with nutritional deficits and cachexia. The authors report a case of a 33-year-old Afghan man, who presented to the emergency department due to chronic watery diarrhea and severe malnourishment. He had been previously misdiagnosed with celiac disease in his early adulthood; however, this was based on inconclusive findings. After a thorough diagnostic workup, the final diagnosis of common variable immunodeficiency enteropathy with symptomatic norovirus infection of the gut was obtained during his prolonged hospitalization. A slow but progressive improvement was observed with immunoglobulin replacement therapy, corticotherapy, and ribavirin treatment. This is a noteworthy case of a rare malabsorption disorder, and it reviews important aspects concerning the differential diagnosis of small bowel villous atrophy of unknown etiology, as well as gastrointestinal manifestations of common variable immunodeficiency disorder.

A Enteropatia associada à Imunodeficiência Comum Variável é uma entidade com características clínicas e endoscópicas semelhantes à doença celíaca. Por vezes apresenta-se como um síndrome de malabsorção, levando a défices nutricionais e caquexia severa. Os autores relatam o caso de um homem de 33 anos de idade de naturalidade afegã, que recorreu ao serviço de urgência por um quadro de diarreia aquosa crónica e desnutrição severa. O doente teria sido diagnosticado erroneamente com doença celíaca no início da vida adulta, com bases em dados clínicos inconclusivos. Após um estudo exaustivo durante um internamento prolongado, o doente foi diagnosticado com uma Enteropatia associada à Imunodeficiência Comum Variável com sobreinfeção por Norovirus. Foi observada uma melhoria lenta e progressiva com instituição de terapêutica substitutiva com imunoglobulina, corticoterapia e ribavirina. Este caso retrata uma causa rara de malabsorção, abordando pontos essenciais no diagnóstico diferencial da atrofia vilositária do intestinal delgado, bem como das manifestações gastrointestinais da Imunodeficiência Comum Variável.

Concordance of Dye-Spraying Chromoendoscopy and Virtual Chromoendoscopy for Colonic Dysplasia Detection in Longstanding Inflammatory Bowel Disease.

BACKGROUND/AIMS: In the past, dye-spraying chromoendoscopy was the technique of choice for colonic surveillance in patients with long-standing extensive inflammatory bowel disease. Recent evidence suggests that virtual chromoendoscopy is an equally acceptable technique. MATERIALS AND METHODS: Eleven gastroenterologists were given a survey with 20 pairs of pictures from inflammatory bowel disease surveillance colonoscopies (10 with nondysplastic lesions, 5 with dysplastic lesions, and 5 with no lesions). Each pair contained the same image captured during colonoscopy using indigo carmine and narrow-band imaging. For each picture, the gastroenterologist assessed the presence/absence of lesion and, when a lesion was identified, assessed the presence/absence of dysplasia and delineated its margins. To compare lesion and dysplasia detection between techniques, sensitivity, specificity, and interobserver agreement were calculated. The chi-square test was used to assess the accuracy of margins delineation. RESULTS: When assessing lesion and dysplasia detection, similar sensitivity and specificity values were obtained for both techniques. Interobserver agreement analysis revealed that dye-spraying chromoendoscopy and virtual chromoendoscopy had a moderate agreement in lesion detection but, for dysplasia detection, dye-spraying chromoendoscopy had a slight agreement [K = 0.11 (0.03-0.18), P < .01] and virtual chromoendoscopy a fair agreement [K = 0.30 (0.22-0.37), P < .01]. Margin delineation was similar between techniques. CONCLUSION: Sensitivity and specificity for lesion and dysplasia detection, as well as the accuracy of margins delineation, were similar between dye-spraying chromoendoscopy and virtual chromoendoscopy. Interobserver agreement for dysplasia detection was suboptimal in both techniques; however, it was superior when using virtual chromoendoscopy. These findings suggest that virtual chromoendoscopy constitutes a valid alternative for dysplasia screening in inflammatory bowel disease.

Validation and Application of Predictive Models for Inadequate Bowel Preparation in Colonoscopies in a Tertiary Hospital Population.

Background: Bowel preparation is a major quality criterion for colonoscopies. Models developed to identify patients with inadequate preparation have not been validated in external cohorts. We aim to validate these models and determine their applicability. Methods: Colonoscopies between April and November 2019 were retrospectively included. Boston Bowel Preparation Scale ≥2 per segment was considered adequate. Insufficient data, incomplete colonoscopies, and total colectomies were excluded. Two models were tested: model 1 (tricyclic antidepressants, opioids, diabetes, constipation, abdominal surgery, previous inadequate preparation, inpatient status, and American Society of Anesthesiology [ASA] score ≥3); model 2 (co-morbidities, tricyclic antidepressants, constipation, and abdominal surgery). Results: We included 514 patients (63% males; age 61.7 ± 15.6 years), 441 with adequate preparation. The main indications were inflammatory bowel disease (26.1%) and endoscopic treatment (24.9%). Previous surgery (36.2%) and ASA score ≥3 (23.7%) were the most common comorbidities. An ASA score ≥3 was the only identified predictor for inadequate preparation in this study (p < 0.001, OR 3.28). The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of model 1 were 60.3, 64.2, 21.8, and 90.7%, respectively. Model 2 had a sensitivity, specificity, PPV, and NPV of 57.5, 67.4, 22.6, and 90.5%, respectively. The AUC for the ROC curves was 0.62 for model 1, 0.62 for model 2, and 0.65 for the ASA score. Conclusions: Although both models accurately predict adequate bowel preparation, they are still unreliable in predicting inadequate preparation and, as such, new models, or further optimization of current ones, are needed. Utilizing the ASA score might be an appropriate approximation of the risk for inadequate bowel preparation in tertiary hospital populations.

Introdução: A preparação intestinal é um dos principais critérios de qualidade na colonoscopia. Modelos desenvolvidos para identificar doentes com preparação inadequada nunca foram validados em coortes externas. Pretendemos validar esses modelos e determinar sua aplicabilidade clínica. Métodos: Colonoscopias entre abril-novembro/2019 foram incluídas retrospectivamente. A Escala de Preparação Intestinal de Boston ≥2 por segmento foi considerada adequada. Dados insuficientes, colonoscopias incompletas e colectomias totais foram excluídos. Dois modelos foram testados: modelo 1 (antidepressivos tricíclicos, opióides, diabetes, obstipação, cirurgia abdominal, preparação prévia inadequada, internamento e American Society of Anesthesiology [ASA] ≥3); modelo 2 (comorbilidades, antidepressivos tricíclicos, obstipação e cirurgia abdominal). Resultados: Foram incluídos 514 doentes (63% homens; idade 61.7 ± 15.6), 441 com preparação adequada. As principais indicações foram doença inflamatória intestinal (26.1%) e tratamento endoscópico (24.9%). Cirurgias anteriores (36.2%) e ASA ≥3 (23.7%) foram as comorbilidades mais comuns. Um score ASA ≥3 foi o único fator de risco identificado para preparação inadequada (p < 0.001, OR 3.28). A sensibilidade, especificidade, valor preditivo positivo (VPP) e valor preditivo negativo (VPN) do modelo 1 foi de 60.3, 64.2, 21.8 e 90.7%. O modelo 2 apresentou sensibilidade, especificidade, VPP e VPN de 57.5, 67.4, 22.6 e 90.55%. A AUC para a curva ROC foi de 0.62 para o modelo 1, 0.62 para o modelo 2 e 0.65 para o score ASA. Conclusões: Embora ambos os modelos sejam eficazes a prever preparação intestinal adequada, não se verifica o mesmo para a preparação inadequada e como tal, novos modelos ou otimização dos atuais são ainda necessários. Utilizar o score ASA pode ser uma aproximação adequada do risco de preparação intestinal inadequada em populações de hospitais terciários.

A full hemostatic repertoire in a complex cirrhotic patient.

A 55-year-old woman with cirrhosis was admitted for acute decompensation caused by portal vein thrombosis. Ten days later, the patient presented melena. Esophagogastroscopy revealed two gastric polyps, both with bleeding stigmata. One of the polyps was removed with a diathermic loop, after adrenalin injection, while in the other the "ligate and let go" technique was applied, after biopsy. A "metallic tulip-bundle" technique, combining through the scope and over-the-scope clips, was applied for hemostasis. This case underlines how the combination of various endoscopic techniques may be useful to manage upper gastrointestinal bleeding, especially in patients with important comorbidities.

Endoscopic "purse-string" to close a rectal endoscopic submucosal dissection eschar with intentional muscular sectioning.

This case demonstrates the utility of the "purse string" to close large defects and shows that optical diagnosis may have pitfalls in evaluating the invasion of neoplastic lesions, particularly large ones.

Digestive tract MALT lymphoma, an unusual location.

The authors describe a case of a rectal mucosa-associated lymphoid tissue lymphoma in a 78-year-old female patient, manifested as rectal bleeding. Despite being commonly diagnosed in the localized form, this patient had supradiaphragmatic involvement on disease staging. Immunochemotherapy was proposed due to the disseminated involvement and poorer prognosis.

Role of ATP-binding Cassette Transporters in Sorafenib Therapy for Hepatocellular Carcinoma: An Overview.

BACKGROUND: Molecular therapy with sorafenib remains the mainstay for advancedstage hepatocellular carcinoma. Notwithstanding, treatment efficacy is low, with few patients obtaining long-lasting benefits due to the high chemoresistance rate. OBJECTIVE: To perform, for the first time, an overview of the literature concerning the role of adenosine triphosphate-binding cassette (ABC) transporters in sorafenib therapy for hepatocellular carcinoma. METHODS: Three online databases (PubMed, Web of Science, and Scopus) were searched, from inception to October 2020. Study selection, analysis, and data collection were independently performed by two authors. RESULTS: The search yielded 224 results; 29 were selected for inclusion. Most studies were pre-clinical, using HCC cell lines; three used human samples. Studies highlight the effect of sorafenib in decreasing ABC transporters expression. Conversely, it is described the role of ABC transporters, particularly multidrug resistance protein 1 (MDR-1), multidrug resistance-associated proteins 1 and 2 (MRP-1 and MRP-2) and ABC subfamily G member 2 (ABCG2) in sorafenib pharmacokinetics and pharmacodynamics, being key resistance factors. Combination therapy with naturally available or synthetic compounds that modulate ABC transporters may revert sorafenib resistance by increasing absorption and intracellular concentration. CONCLUSION: A deeper understanding of ABC transporters' mechanisms may provide guidance for developing innovative approaches for hepatocellular carcinoma. Further studies are warranted to translate the current knowledge into practice and paving the way to individualized therapy.

Gastroesophageal Reflux Disease Diagnosis by New Consensus in Clinical Practice: The Additional Value of Mean Basal Impedance.

BACKGROUND: Recently, Lyon consensus and ROME IV were published as there was a need to create a more objective evaluation for gastroesophageal reflux disease (GERD) in order to better predict treatment outcomes. However, with classical pH-impedance measures, some patients would still have diagnostic uncertainty, and new metrics, such as mean nocturnal basal impedance (MNBI), have emerged to corroborate with GERD diagnosis. The aim of the present study was to describe the prevalence of GERD, functional heartburn (FH), reflux hypersensitivity (RH), and undetermined diagnosis using current consensuses and to evaluate if MNBI could be considered a supportive measure for the diagnosis of GERD. METHODS: Patients who underwent pH-multichannel intraluminal impedance (MII-pH) for suspected GERD between 2013 and 2018 were included. Subjects with previous diagnosis of GERD (e.g., esophagitis grade C or D according to Los Angeles classification, Barrett's esophagus, or peptic stricture), atypical symptoms, major esophageal motor disorder, eosinophilic esophagitis, or under proton pump inhibitor were excluded from the analysis. RESULTS: We included 75 patients. The prevalence of GERD, FH, RH and undetermined diagnosis was 44%, 14.7%, 12%, and 29.3%, respectively. MNBI was lower in patients with GERD (GERD: 1,307.5 ± 817.9 Ω vs. FH: 3,039.6 ± 1,040.8 Ω, RH: 2,617.1 ± 1,342.2 Ω, undetermined: 2,351.9 ± 1,018.2, p < 0.001), although it was similar between patients with FH and RH (p = 0.44) or between undetermined diagnosis and FH/RH (p = 0.15). More patients with a GERD diagnosis had a MNBI under 2,292 Ω (GERD: 93.9% vs. non-GERD: 31.7%, p < 0.001). CONCLUSION: In our study, using MII-pH criteria, less than half of the patients had a GERD diagnosis. MNBI showed additional value as another metric for the diagnosis of GERD.

Evaluation of a new composite score combining SPICE and protrusion angle scores to distinguish submucosal lesions from innocent bulges.

INTRODUCTION AND AIM: in capsule endoscopy (CE), small bowel subepithelial lesions (SBSL) are difficult to distinguish from innocent mucosal protrusions. The SPICE score (smooth, protruding lesions index on CE) and a score that assesses the SBSL protrusion angle were developed. The aim of the study was to determine if a composite score is superior to the proposed models. METHODS: all CE between 01/2010 and 12/2020 were included in the study if a smooth, round protruding lesion was identified. Both scores and a composite score (SPICE > 2 and angle < 90°) were calculated after video review. Mucosal protrusions were defined as SBSL if they had a histological/imaging diagnosis and innocent protrusions if otherwise. All patients without at least one appointment and an additional diagnostic exam after CE were excluded. RESULTS: a total of 34 CE were included; 64.7 % were males, aged 65.4 ± 14.7 years. The most common indication for CE was anemia (52.9 %). SBSL was identified in 17 cases, with lipomas (14.7 %) being the most frequent diagnosis. Both the SPICE (AUROC 0.90, p < 0.001) and protrusion angle scores (AUROC 0.74, p = 0.019) accurately distinguished SBSL from innocent protrusions. Applying a 90° cut-off, the protrusion angle had a sensitivity of 52.9 % and specificity of 88.2 %. Applying a cut-off of > 2 points, the SPICE score has a sensitivity of 64.7 % and specificity of 94.2 %. The composite score had a sensitivity, specificity, positive and negative predictive value of 47.0 %, 100 %, 100 % and 65.4 %. CONCLUSION: we propose that additional follow-up investigation should always be undertaken in cases where both a SPICE > 2 and angle of < 90° are obtained, as the likelihood of SBSL is high.

Endoscopic and histologic activity assessment considering disease extent and prediction of treatment failure in ulcerative colitis.

BACKGROUND AND AIMS: DUBLIN score allows evaluation of disease activity and extent in ulcerative colitis (UC). This study aimed to evaluate DUBLIN score as a predictor of therapeutic failure as well as to associate endoscopic and histological activity scores to assess their joint performance. METHODS: Retrospective cohort study, with consecutive inclusion of patients undergoing total colonoscopy with serial biopsies between 2016 and 2019. DUBLIN score (0-9) was calculated as the product of Mayo endoscopic score (MSe 0-3) by disease extent (E1-E3). Histological activity was evaluated through Nancy score (0-4). Activity scores were correlated with biomarkers, treatment failure (therapeutic escalation, hospitalization and/or colectomy) and clinical remission at 6 months (Mayo partial score ≤ 1). RESULTS: One-hundred and seven patients were included. In 38.3% (n = 41) there was evidence of endoscopic activity (MSe ≥ 2) and in 50.5% (n = 54) histological activity (Nancy ≥ 2). MSe and DUBLIN scores showed good correlation (r = 0.943; p < .001) and both were significantly higher in patients with histological activity (p < .001). Therapeutic failure occurred in 25.2% (n = 27). MSe, DUBLIN, and Nancy scores were significantly associated with therapeutic failure (p < .001). The areas under the (AUC) ROC curve were 0.74 (MSe; p < .001), 0.78 (DUBLIN; p < .001) and 0.84 (Nancy; p < .001). Joint evaluation of endoscopic and histological activity by combining DUBLIN and Nancy scores was associated with therapeutic failure with a significantly higher AUC of 0.84 (p < .001) compared to the Dublin score alone (p = .003). CONCLUSION: Mayo and DUBLIN endoscopic scores correlated with each other and with histological activity. The joint evaluation of endoscopic and histological activity allowed to predict with greater accuracy treatment failure.

Prediction of adenoma recurrence after piecemeal endoscopic mucosal resection: interobserver agreement and utilization of the Sydney EMR recurrence tool.

Background and aims: Piecemeal endoscopic mucosal resection (pEMR) allows resection of larger non-invasive colorectal lesions. Adenoma recurrence is an important limitation and occurs in ≤20%. The present study aimed to validate the Sydney EMR recurrence tool (SERT) score as a predictor of both endoscopic and histologic recurrence and evaluate interobserver agreement in adenoma recurrence based on endoscopic scar assessment, among nonexperts in EMR.Methods: Retrospective cohort and cross-sectional study, in which all patients submitted to pEMR in a tertiary care center in Portugal, between 2012 and 2018 were included. SERT-score was calculated for all lesions and compared with the SMSA (size, morphology, site, access) score already validated as a predictor of adenoma recurrence. Image based offline analysis was performed to evaluate adenoma recurrence prediction and assess the interobserver agreement within a heterogeneous group of participants, mostly composed by nonexperts in EMR.Results: There was a moderate positive correlation between the SERT and SMSA scores (p <.001; r = 0.61). SERT-score was significantly associated with endoscopic recurrence (p =.005) and histologic recurrence (p = .015). Endoscopic prediction of recurrence had high coefficient of agreement (k-0.806; p < .001).Conclusion: Histologic recurrence after pEMR can be predicted by SERT score and optical diagnosis of recurrent adenoma has high interobserver agreement between nonexperts in EMR.

Obscure gastrointestinal bleeding in the setting of blue rubber bleb nevus syndrome with extensive small bowel involvement.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple vascular malformations of the gastrointestinal (GI) tract, skin and less frequently in solid organs. An 85-year-old male was admitted to the ER due to melena and was under apixaban anticoagulation. Dorsal hemangiomas were identified on physical examination. On admission, he had hemoglobin levels of 7.6g/dl, esophagogastroduodenoscopy was negative and colonoscopy revealed blood clots in all segments, including the terminal ileum. Capsule endoscopy revealed multiple polypoid vinaceous-colored formations in the proximal jejunum and distally active bleeding resulting in limited mucosal observation. The abdominal-CT was normal. Balloon-assisted enteroscopy (BAE) allowed the identification of multiple hemangioma-like purplish blue lesions in the jejunum and ileum without active bleeding. A diagnosis of BRBNS was made based on clinical, imaging and endoscopic findings. Supportive treatment was decided, considering the extent of the lesions and the comorbidities of the patient. Treatment depends on the site, size and number of lesions. Surgical resection is more suitable for limited or life-threatening lesions. Endoscopic treatment with polidocanol, coagulation, band ligation and endoscopic mucosal resection are also available. Sirolimus has been successfully used. However, tolerability and adverse effects limits its use as a rescue therapy.

Diagnostic yield of endoscopic ultrasonography for dilation of common bile duct of indeterminate cause.

INTRODUCTION: with the widespread use of abdominal imaging, common bile duct (CBD) dilation is a common problem in the daily practice. However, the significance of a dilated CBD as a predictor of underlying disease has not been well elucidated and there are currently no guidelines for its approach. METHODS: this was a retrospective study of patients who underwent endoscopic ultrasonography (EUS) from 2010 to 2017 due to a dilated CBD detected by transabdominal ultrasonography TUS (CBD ≥ 7 mm) or computed tomography (CT) (CBD ≥ 10 mm), with no identified cause (n = 56). The aims were to assess the diagnostic yield of EUS and to identify predictors for a positive EUS. RESULTS: the majority of patients (n = 39) had normal findings on EUS. Abnormal EUS findings were found in 30% (n = 17) of the patients, which included choledocholithiasis (n = 6), ampuloma (n = 3), choledochal cyst (n = 2), benign CBD stenosis (n = 2), cyst of the head of the pancreas (n = 1), cholangiocarcinoma (n = 1), chronic pancreatitis (n = 1) and CBD compression due to adenomegaly (n = 1). Factors that positively related with findings on EUS were increased levels of gamma glutamyl transferase (331 U/l vs 104 U/l, p = 0.039), alkaline phosphatase (226 U/l vs 114 U/l, p = 0.041), total bilirubin (TB) (6.5 g/dl vs 1.2 g/dl, p = 0.035) and the presence of signs/symptoms (p = 0.042). Of the 21 patients (38%) who were asymptomatic with normal liver biochemical tests, four (19%) had findings on EUS. CONCLUSIONS: the majority of patients with a dilation of the CDB have a normal EUS. Increased cholestasis enzymes, increased TB and the presence of signs and symptoms are predictors of a positive EUS.