Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome.

Lynch Syndrome is characterized by phenotypic and genotypic heterogeneity. Despite scarce evidence, individuals with an EPCAM deletion appear to have a comparable risk of colorectal cancer (CRC) as MSH2 mutation carriers, but a lower risk of extracolonic cancer (such as endometrial cancer) unless the deletion extends close to the promoter of MSH2. A genotype-phenotype correlation is yet to be established for EPCAM alterations. In this report, we describe a family with EPCAM deletion characterized by a particularly aggressive phenotype and extracolonic cancer. We present a family with 5 members carrying an EPCAM deletion encompassing exons 8 and 9. Three female family members presented CRC at the ages of 32, 44 and 60 (mucinous moderately and well-differentiated adenocarcinoma); in two of them metachronous colon cancers and advanced adenomas were diagnosed in the intensive surveillance program. Two female patients (42 and 63 years-old) presented with gastric cancer (GC). Two patients presented with small bowel cancer at 51 and 60 years-old - the first one presented a metachronous jejunal cancer at 68 years. Only one family member was submitted to hemithyroidectomy due a right-lobe Hürthle cell carcinoma at 56 years-old. This report illustrates the existence of intrafamilial clinical heterogeneity among carriers of this EPCAM alteration, and hence the difficulty in predicting phenotype for EPCAM-associated Lynch syndrome.

The Current Portrayal of Non-Variceal Upper Gastrointestinal Bleeding in a Portuguese Tertiary Center.

INTRODUCTION: Non-variceal upper gastrointestinal bleeding (NVUGIB) is an important healthcare problem whose epidemiology and outcomes have been changing throughout the years. The main goal of this study was to characterize the current demographics, etiologies, and risk factors of NVUGIB. METHODS: Analysis of clinical, endoscopic, and outcome data from patients who were admitted for NVUGIB between January 2016 and January 2019 in an emergency department of a tertiary hospital center. RESULTS: A total of 522 patients were included, with a median age of 71 years, mainly men, with multiple comorbidities. Most patients were directly admitted, while the others were transferred from other hospitals. Peptic ulcer disease was the most common cause of NVUGIB and it was followed by tumor bleeding. Esophagogastroduodenoscopy was performed within <12 h after hospital admission in 51.9%. In-hospital rebleeding occurred in 6.9% and overall mortality was 4.2%. Transferred patients had superior Glasgow-Blatchford score (GBS), required more blood transfusion, endoscopic and surgical interventions, and presented higher rebleeding rate, with similar mortality. Complete Rockall score (CRS) and GBS were predictors of endoscopic therapy. Surgery need was only related to CRS. Patients who rebled had superior pre-endoscopic Rockall score (RS), CRS, and GBS. Mortality was increased in patients with higher RS and CRS. DISCUSSION/CONCLUSION: Ageing and increasing comorbidities have not been related to worse outcomes in NVUGIB. These findings seem to be the consequence of the correct use of both diagnostic and therapeutic tools in an organized and widely accessible healthcare system.

Introdução: Hemorragia digestiva alta não-hipertensiva (HDANH) é um problema de saúde cuja epidemiologia e prognóstico têm-se alterado ao longo dos anos. O principal objetivo deste trabalho foi analisar a caracterização demográfica, etiologias e fatores de risco para HDANH. Métodos: Análise de dados clínicos, endoscópicos e prognóstico de doentes admitidos por HDANH entre janeiro/2016 e janeiro/2019 no serviço de urgência de um hospital terciário. Resultados: Foram incluídos 522 doentes, idade mediana de 71 anos, maioritariamente homens, com múltiplas comorbilidades. A maioria foi admitida diretamente, os restantes foram transferidos de outros hospitais. A doença-ulcerosa-péptica foi a causa mais frequente de HDANH, seguida pela etiologia neoplásica. Esofagogastroduodenoscopia foi realizada em menos de 12horas após admissão em 51.9%. Recidiva hemorrágica ocorreu em 6.9% e a taxa global de mortalidade foi 4.2%. Os doentes transferidos registaram um score Glasgow-Blatchford (GBS) superior, necessitaram mais frequentemente de transfusões, terapêutica endoscópica e cirúrgica, e apresentaram taxas superiores de recidiva hemorrágica, mas com mortalidade semelhante. O score Completo-Rockall (CRS) e o GBS foram preditores de terapêutica endoscópica. A necessidade de cirurgia esteve associada ao CRS. Os doentes com recidiva hemorrágica tiverem superiores score Rockall pre-endoscópico (RS), CRS e GBS. Mortalidade superior esteve associada a RS e CRS mais elevados. Discussão/Conclusão: O envelhecimento e o aumento das comorbilidades não se associaram a piores outcomes na HDANH. Estes achados parecem ser consequência do uso adequado de ferramentas diagnósticas e terapêuticas num sistema de saúde organizado e amplamente acessível.

Acute variceal bleeding and out-of-hours endoscopy: Evaluation of an emergency care setting according to Baveno VI guidelines adherence.

BACKGROUND: The extent to which patients with acute variceal bleeding (AVB) receive recommended care is largely unknown. AIM: to evaluate the adherence of the 4 major Baveno VI recommendations [vasoactive agents, prophylactic antibiotic, esophagogastroduodenoscopy (EGD) within 12 hours, endoscopic variceal ligation (EVL)] as a marker of quality of an emergency model. METHODS: Retrospective evaluation of AVB admissions to a tertiary centre in which endoscopy was available 24hours-a-day, with a regional out-of-hours service at night (the furthest hospital is 200Km away). Patients were divided in directly admitted or transferred from other centres. RESULTS: 210 AVB patients were included; 101 (48.1%) were directly admitted. The majority of patients were submitted to vasoactive agents (85.7%) and prophylactic antibiotics (79%) before EGD. In 178 patients (84.8%) endoscopy was performed within 12h and EVL was the procedure of choice in 116 (74.8%) (only oesophageal varices). No significant differences were observed between directly admitted and transferred patients in adherence rates. Overall rebleeding rate was 8.6%, in-hospital mortality 11.4% and 6-week mortality 20%. CONCLUSION: Adherence to quality metrics was high which might have played a vital role for reported outcomes. These results suggest that this model of care, provides accessibility and equity in access to urgent endoscopy.

Azathioprine-Induced Acute Submandibular Sialadenitis in a Crohn's Disease Patient.

INTRODUCTION: Azathioprine (AZA) is a widely used immunosuppressive drug in inflammatory bowel disease (IBD). The occurrence of adverse effects (AEs) is a major downside in the use of this drug, leading to treatment withdrawal in a variable proportion of patients. CASE PRESENTATION: We report the case of a Crohn's disease patient who developed sialadenitis as an AE to AZA. DISCUSSION AND CONCLUSION: To our knowledge this AE has been reported only once in the literature. Sialadenitis is a common disorder and refers to inflammation of a salivary gland. It has many causes, such as bacterial and viral infections, ductal obstruction, and drugs. There are several AEs related to this drug, categorized as dose-dependent and dose-independent. Their knowledge is essential for therapeutic management in IBD, which is already challenging, requiring an individualized approach.

INTRODUÇÃO: A azatioprina é um fármaco imunossupressor amplamente utlizado na doença inflamatória intestinal. A ocorrência de efeitos adversos a ele associados é uma desvantagem na sua utilização, levando em muitos casos à necessidade da sua suspensão. CASO CLÍNICO: Reportamos o caso de um doente com doença de Crohn que desenvolveu quadro clínico de sialadenite secundário à azatioprina, efeito este reportado apenas uma vez na literatura. DISCUSSÃO E CONCLUSÃO: Sialadenite diz respeito a um processo inflamatório das glândulas salivares que pode ser causado por múltiplos fatores, nomeadamente farmacológicos. Têm sido reportados na literatura vários efeitos adversos relacionados com a azatioprina, sendo categorizados essencialmente em "dose-dependentes" e "doseindependentes". O seu reconhecimento é essencial na abordagem terapêutica dos doentes com doença inflamatória intestinal, que por si só já representam um desafio de gestão.