Gastroenterology and Hepatology From Bed to Bench最新文献

Hereditary hemochromatosis (HH) is an autosomal recessive metabolic disorder. Mutations in different encoding genes, mostly HFE, lead to iron overload in different organs of the body. We herein report a case of HH caused by a novel variant in the HFE2 (HJV) gene. A 27-year-old man was admitted to the internal medicine ward of Shahid Rahimi Hospital in Khorramabad, Iran, on 6/6/2018. He first sought medical care for impotence and was diagnosed with increased serum iron. He ceased follow-up and was referred to our center with advanced symptoms of hemochromatosis, including central hypogonadism, heart failure, and ascites. The genetic test revealed that he was homozygote for a variant defined as c.950G>A (p.Cys317Tyr) in exon 4 of the HJV gene. The patient's symptoms improved following medical intervention. At a 4th year follow-up, he was alive and his clinical status was stable.

Aim: This study aims to investigate the anticancer molecular mechanism of RT2 through protein-protein interaction (PPI) network analysis. For this aim, a bioinformatics evaluation of the proteome profile of colon cancer is carried out.

Background: Antimicrobial peptides such as RT2 showed anticancer properties against various tumors. The molecular mechanism of the anticancer effect of RT2 is a challenging subject.

Methods: By applying Cytoscape V.3.9.1 and integrated apps, the profile of the interaction network and related centrality is analyzed. An enrichment analysis of hub bottlenecks was also performed, and highlighted biological processes were visualized and determined.

Results: Several 207 differentially expressed proteins were retrieved by PPI network analysis, and 10 hub bottlenecks were introduced. Among these differentially expressed proteins (DEPs), only AKT1 is from the queried DEPs. Key biological processes contributing to RT2 targeting mechanism include "Regulation of fibroblast proliferation", "Positive regulation of cyclin-dependent protein serine/threonine kinase activity", "positive regulation of miRNA transcription", and "fungiform papilla formation".

Conclusion: In conclusion, central proteins Tp53, MYC, EGFR, AKT1, HDAC1, and SRC can be introduced as a targeted biomarker panel of bioactive peptide treatments. However, extensive research is required to establish this claim before clinical application.

Aim: The aim of this work was to highlight the impact and hidden costs incurred by the NHS in supporting this management process.

Background: Coeliac disease (CD) is a common auto-immune condition which affects around 1% of the general population. In 2005 there was a drive by the government to discharge patients with CD from specialist hospital follow up to community-based management to improve cost efficiency.

Methods: A retrospective analysis of 1317 CD patients collected from a local coeliac database created between 2005 and 2016.

Results: During these 12 years, CD patients accounted for 1965 hospital admissions with a total 5716 days spent within the hospital setting. There were 33150 adult and paediatric OPAs attended equating to 25.17 per coeliac patient, or 2.29 per person per year. The cost to the CCG totalled £5,167,396. A total of 527 lower GI procedures were undertaken with findings of microscopic colitis, melanosis coli, inflammatory bowel disease and colon cancer. 420 (29%) of the coeliac cohort were found to have IDA with just 4% (17/420) receiving an intravenous (IV) iron infusion.

Conclusion: It would appear that the government's attempts to reduce the cost of CD care within the NHS was not particularly effective, from a financial, or patient care perspective. A hospital-based, specialist nurse led, virtual management system (with consultant over-view) may prove to be a more efficient compromise, to help reduce down waiting times and costs, whilst still providing coeliac patients with the specialist and holistic input they require and deserve.

A 68-year-old man with a previous history of lung cancer presented with deteriorating appetite and weight loss. Imaging revealed significant retroperitoneal lymphadenopathy, as well as liver and bone lesions consistent with widespread metastatic carcinoma. Biopsy results from the liver lesions confirmed the diagnosis of metastatic non-small cell lung carcinoma. A PDL-1 immunostain, performed on the initial lung resection specimen, showed a combined positive score (CPS) of 15 and pembrolizumab treatment was initiated. The patient presented with diarrhea three weeks after starting therapy and duodenal biopsies obtained at this time displayed intact villous architecture with an increase in intraepithelial lymphocytes (IELs). The colon biopsies exhibited lymphocytic colitis, characterized by significant thinning of the surface epithelium, a higher mixed inflammatory infiltrate within the lamina propria, and diffuse increase of IELs (greater than 30 per 100 epithelial cells). These findings collectively raised the differential diagnosis of celiac disease with lymphocytic colitis or immunotherapy-associated enterocolitis. Further serological testing for celiac disease, including anti-tissue transglutaminase antibodies, yielded negative results. Consequently, a final diagnosis of immune adverse event associated with immunotherapy was established. Cases reported in literature as celiac disease occurring soon after immunotherapy are likely misdiagnosed cases of immunotherapy enteritis.

Extramedullary hematopoiesis is a common complication of ineffective erythropoiesis and bone marrow replacement disorders. Because of its nonspecific presentation and radiological appearance, diagnosing focal intrahepatic extramedullary hematopoiesis is challenging and often misdiagnosed as a hepatic tumor. Herein, we describe the case of a 48-year-old male with thalassemia and AE Bart's disease with secondary hemochromatosis and cirrhosis who developed focal intrahepatic extramedullary hematopoiesis mimicking hepatocellular carcinoma. After hepatic resection, extramedullary hematopoiesis was not observed at any site, including in the remaining liver, at the 4-year follow-up.

Primary Sclerosing Cholangitis (PSC) is a chronic cholestatic liver disease which is associated with Inflammatory Bowel Disease (IBD) in 70% of cases. It seems PSC/IBD is a distinct phenotype that is different from PSC, and IBD alone. Hence, we review the epidemiology, pathogenesis, natural course and management of PSC/IBD before and after LT for PSC. Extensive colitis, rectal sparing, backwash ileitis, and mild symptoms are the characteristics of IBD coexisting with PSC. Moreover, PSC patients with concurrent IBD have higher risk of cholangiocarcinoma, and colorectal neoplasia predominantly in right colon and at younger age. Therefore, it is essential to monitor these individuals continuously. It is interesting to note that the course of IBD (ulcerative colitis) after liver transplantation (LT) for PSC varies greatly, and some patients may develop worsening colitis after LT despite immunosuppressive regimens. As well, management of these patients was discussed in this review.

Colorectal cancer (CRC) is considered one of the most prevalent cancers among Iranian men and women (1). Colorectal polyps, known as precursors of CRCs, are of great importance. Surveillance, locating, and removal of colorectal polyps make them the most modifiable factor apart from other genetic and environmental factors leading to CRCs. Colorectal polyps are defined as outpouchings from superficial and deep layers of mucosa of the colonic wall. They are classified as adenomas, serrated polyps, hyperplastic polyps, and hamartomas based on histological evaluation. Submucosal invasion precludes the possibility of endoscopic resection and should be ruled out via colonoscopic evaluation (2). Knowing this significance, the present study aims to present a brief review on classification, probability of endoscopic resection, complications of endoscopic polypectomy, as well as proper surveillance after polypectomy.

Gastric hemangioma (GH) is a rare benign tumor that may cause to upper gastrointestinal bleeding. Furthermore, this condition could lead life-threatening conditions thus should be recognized sooner to minimize unnecessary invasive surgical intervention, and accident. We reported a 48 years old man which came to emergency room (ER) with the chief complaint of hematemesis and black stool accompanied by abdominal pain, cold sweat, body weakness and enlarger stomach. Physical examination showed slightly icteric eye, and conjunctival pallor. On palpation, the epigastric and right upper quadrant was tender, and occult blood was detected in the excrement. A minor microcytic hypochromic anemia, absolute neutrophilia, hypoalbuminemia, and an increase in urea and creatinine were determined by laboratory tests. Moreover, the esophagogastroduodenoscopy was performed, and showed broad mass with dilated blood vessels. The histopathological examination result showed gastric mass with the histological erythrocyte extravasation. The diagnosis was hematemesis melena owing to cavernous GH with differential diagnosis of hematoma, and other gastric mass, with anemia gravis. For the treatment, patient received fluid resuscitation, omeprazole, tranexamic acid, somatostatin, and antibiotics. He received two kolfs transfusion of packed red cell. Gastric hemangiomas are benign vascular tumors that can lead to severe gastrointestinal bleeding. These benign tumors are lesions that develop as a result of endothelial cell proliferation, and concomitant pericytic hyperplasia, which leads to a collection of dilated vessels. The cavernous subtype of GHs often comprises of bigger blood-filled areas and larger blood vessels. It is more likely for the cavernous GH to rupture, leading to substantial bleeding. Endoscopic assessment is important in the patients with upper GI bleeding, and GH appear as well-circumscribed vascular submucosal mass. Although this disease is benign with a lower recurrence, we suggest for further surgical treatment and the requirement for long-term follow-up to assess the outcome.

Aim: This systematic review examined the diet's impact on the human gut microbiota to identify potential consequent health outcomes.

Background: The extreme macronutrient profile of the ketogenic diet (KD) instigates compositional shifts in the gut's microbial community.

Methods: In this systematic literature review, an evidence-based and methodical approach was undertaken, which involved systematic searches of the Medical Literature Analysis and Retrieval System Online (MEDLINE), PubMed and Cumulative Index to Nursing and Allied Health Literature (CINAHL) databases, generating a total of 263 relevant research papers. Following the application of inclusion and exclusion criteria, eight papers were deemed suitable for inclusion. These papers were critically appraised using a checklist tool adapted from the National Institute of Care and Excellence (NICE). The findings were analysed using a simplified thematic analysis.

Results: The results provide strong evidence for a persistent reduction in Bifidobacterium abundance following KD adherence. A reduced abundance of key Firmicutes butyrate-producing bacteria was found to be a likely impact, although two studies with extended intervention periods indicate this may be time-limited. Studies investigating short-chain fatty acids (SCFA's) indicate KD reduces total faecal SCFA's, acetate, and butyrate.

Conclusion: Changes to microbial communities resulting from KD adherence are potentially detrimental to colonic health. The persistent reduction in Bifidobacterium abundance was concerning, with obesity, type-2 diabetes, and depression highlighted as potential consequent risks. For nutrition and healthcare professionals, the findings emphasize the importance of considering KDs microbial effects and resulting health implications at an individual level.