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.

Are sarcopenia, frailty and malnutrition prognostic markers of liver disease decompensation in the ambulatory setting? - A prospective cohort study.

BACKGROUND: Sarcopenia, frailty and malnutrition are associated with adverse outcomes in liver cirrhosis. Studies assessing the prognostic value of these conditions in ambulatory patients with cirrhosis are scarce. METHODS: A prospective cohort study was conducted, with consecutive inclusion of all patients with cirrhosis observed in the Hepatology outpatient clinic of a Portuguese tertiary centre. At study enrolment, evaluation of muscle mass (ultrasound quadriceps femoris thickness), muscle strength (handgrip dynamometry) and nutritional status (Patient-Generated Subjective Global Assessment Short Form) was held. Follow-up ended upon the occurrence of a composite endpoint, comprising liver decompensation events and liver-related death, or last medical appointment/non-liver related death before the end of the study. The prognostic value of anthropometrical parameters and nutritional status in the composite endpoint was assessed using a multivariate Cox regression analysis, adjusted for several confounders. RESULTS: Ninety patients were enrolled (80% male), with a mean age of 63.5±10.5 years. The median follow-up was 30 (interquartile range 38) weeks, during which 12 patients reached the composite endpoint. These patients presented a lower mean handgrip strength [23.1±6.41 vs 30.3±10.4 Kg, p=0.04], compared to patients who did not reach the composite endpoint. On Cox regression multivariate analysis, however, no independent predictors of the composite endpoint were found, apart from previous decompensation episodes. CONCLUSION: In this study, muscle strength was lower in the group of patients with cirrhosis who presented a liver-related event. Handgrip strength might be a promising tool in the ambulatory setting to identify patients at risk of liver decompensation and liver-related death in the short term.

Small-Bowel Angioectasias: Are They Responsible for a Real Impact on Survival?

Introduction: This study aimed to evaluate the effect of small-bowel angioectasia on survival, given the hypothesis that angioectasia might be an independent risk factor of frailty and poor outcomes. Methods: In this retrospective cohort study, all patients undergoing small-bowel capsule endoscopy between 2010 and 2013 for obscure gastrointestinal bleeding from a Portuguese tertiary centre were included. Follow-up started after capsule endoscopy and ended upon death or end of the study (November 2020). Survival analysis was performed using a Cox proportional-hazards model, in order to analyse the effect of small-bowel angioectasia on survival as well as potentially confounding factors (age, vascular diseases and chronic kidney disease). Results: A total of 176 patients were included in this study (50.6% male), with a median age of 68.5 years (IQR 24). The median follow-up was 7 years (IQR 4), during which 67 (38.1%) patients died. Seventy-three (41.5%) patients had at least one small-bowel angioectasia on capsule endoscopy. On multivariate Cox regression analysis, only age, peripheral arterial disease, history of previous mesenteric ischaemia and chronic kidney disease were independent risk factors of death. The presence of small-bowel angioectasia did not affect survival in this analysis (HR 1.30; 95% CI 0.75-2.23; p = 0.35). Conclusion: In this retrospective cohort study, some comorbidities and age were independent predictors of poor survival. The presence of small-bowel angioectasia per se did not affect survival.

Introdução: Este estudo pretendeu avaliar a influência das angiectasias do intestino delgado na sobrevida, dada a hipótese de que as angiectasias pudessem constituir um fator de risco independente para fragilidade e outcomes adversos. Métodos: Os autores incluíram neste estudo de coorte retrospetivo todos os doentes submetidos a cápsula endoscópica entre 2010 e 2013 por hemorragia digestiva obscura num centro português terciário. O followup iniciou-se após a realização da cápsula e terminou aquando da morte ou fim do estudo (Novembro de 2020). A análise da sobrevida foi realizada através de um modelo de regressão de Cox, no sentido de analisar o efeito na sobrevida das angiectasias do intestino delgado e de potenciais fatores confundidores (idade, doenças vasculares e doença renal crónica). Resultados: Neste estudo foram incluídos 176 doentes (50.6% do sexo masculino), com uma idade mediana de 68.5 anos (IQR 24). O tempo de follow-up mediano foi de 7 anos (IQR 4), durante o qual se verificaram 67 (38.1%) óbitos. 73 (41.5%) dos doentes apresentavam pelo menos uma angiectasia no intestino delgado. Na análise de sobrevida, apenas a idade, doença arterial periférica, história prévia de isquemia mesentérica e doença renal crónica foram fatores de risco independentes de mortalidade. A presença de angiectasias no intestino delgado não afetou a sobrevida nesta amostra (HR 1,30; 95% CI 0,75­2,23; p = 0.35). Conclusão: Neste estudo de coorte retrospetivo, algumas co-morbilidades e a idade foram fatores de risco independentes de mortalidade. A presença de angiectasias no intestino delgado, per se, não afetou a sobrevida.

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.

Very High Yield of Urgent Small-Bowel Capsule Endoscopy for Ongoing Overt Suspected Small-Bowel Bleeding Irrespective of the Usual Predictive Factors.

Evidence for an urgent approach to ongoing overt suspected small-bowel bleeding (SSBB) is scarce. We aimed to analyze our series of urgent small-bowel capsule endoscopies (SBCEs) for ongoing overt SSBB and to identify factors associated with positive findings and outcomes. A retrospective study of all SBCEs performed in the first 48 h after admission for overt SSBB between January 2006 and February 2022 was performed. Descriptive and inferential analyses (univariate and multivariable) were performed. Eighty-three urgent SBCEs were performed for overt SSBB. Patients were mostly men (69.2%, median age 68) and were followed for a median of 58.2 months (range 5-176). The diagnostic yield was 80.7%; in 60.2%, blood was detected in the small bowel (SB), while in 50.6%, a bleeding lesion was identified, mostly angioectasia. Patients with diabetes mellitus or taking NSAIDs were more prone to present SB findings, yet the explanatory power was low. Endoscopic or surgical treatments were performed in 28.9% and 19.3%, respectively, with the "non-conservative" therapeutic yield being 56.6%. Rebleeding occurred in 20.5% and was associated in the multivariable analysis with the female gender and anticoagulants use. This cohort of urgent SBCE, the largest from a European center, reinforces the usefulness of SBCE for ongoing overt SSBB management. This prompt performance of this procedure is highly effective, regardless of patients' features.

Readjustment of Capsule Endoscopy Protocols to the COVID-19 Pandemic in a Portuguese Tertiary Center.

BACKGROUND: The prevention of severe acute respiratory syndrome corona virus 2 transmission implies several social distancing mea- sures, imposing a change in the protocols of several hospital departments. Capsule endoscopy protocols changes were implemented and evaluated in a Portuguese tertiary center. METHODS: The authors compared pre-pandemic and peri-pandemic protocols, the latter favoring social distancing, used in MiroCam (IntroMedic, Seoul, Korea) and PillCam Crohn (Medtronic, Minneapolis, Minn, USA) capsule endoscopy, in a Gastroenterology Department of a tertiary center. All capsule endoscopy performed in outpatients between February 2018 and September 2020 was included. The authors compared significant lesions detection rate, completeness of procedure, adequate bowel preparation, complications rate, and patient satisfaction (through a brief phone call survey) among the protocols. RESULTS: This study included 70 MiroCam CE and 43 PillCam Crohn capsule endoscopy. No statistically significant differences concern- ing performance measures and patients satisfaction were found among the pre-pandemic protocol and the peri-pandemic protocol in MiroCam capsule endoscopy. Conversely, in PillCam Crohn capsule endoscopy, the rate of complete exams was significantly inferior in the peri-pandemic protocol (84.8% vs 50.0%, P = .036), with no other statistically significant differences in the remaining parameters. CONCLUSION: The performance measures and patient satisfaction were similar among the protocols analyzed for MiroCam capsule endoscopy. Thus, the readjustment of this capsule endoscopy system, which favors a reduction in hospital stay, appears to be a good alternative to the former protocols in this pandemic era. In contrast, the rate of complete exams was significantly inferior in the adapted protocol to the pandemic era for PillCam Crohn capsule endoscopy, disfavoring its maintenance in the clinical practice.

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.

Diagnostic and therapeutic yields of early capsule endoscopy and device-assisted enteroscopy in the setting of overt GI bleeding: a systematic review with meta-analysis.

BACKGROUND AND AIMS: Small-bowel capsule endoscopy (SBCE) and device-assisted enteroscopy (DAE) are essential in obscure GI bleeding (OGIB) management. However, the best timing for such procedures remains unknown. This meta-analysis aimed to compare, for the first time, diagnostic and therapeutic yields, detection of active bleeding and vascular lesions, recurrent bleeding, and mortality of "early" versus "nonearly" SBCE and DAE. METHODS: MEDLINE, ScienceDirect, and Cochrane Central Register of Controlled Trials were searched to identify studies comparing early versus nonearly SBCE and DAE. Random-effects meta-analysis was performed; reporting quality was assessed. RESULTS: From 1974 records, 39 were included (4825 patients). Time intervals for the early approach varied, within 14 days in SBCE and 72 hours in DAE. The pooled diagnostic and therapeutic yields of early DAE were superior to those of SBCE (7.97% and 20.89%, respectively; P < .05). The odds for active bleeding (odds ratio [OR], 5.09; I2 = 53%), positive diagnosis (OR, 3.99; I2 = 45%), and therapeutic intervention (OR, 3.86; I2 = 67%) were higher in the early group for SBCE and DAE (P < .01). Subgroup effects in diagnostic yield were only identified for the early group sample size. Our study failed to identify differences when studies were classified according to time intervals for early DAE (I2 < 5%), but the analysis was limited because of a lack of data availability. Lower recurrent bleeding in early SBCE and DAE was observed (OR, .40; P < .01; I2 = 0%). CONCLUSIONS: The role of small-bowel studies in the early evaluation of OGIB is unquestionable, impacting diagnosis, therapeutic intervention, and prognosis. Comparative studies are still needed to identify optimal timing.