Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature.

Abstract:

BACKGROUND:Tuberous Sclerosis Complex (TSC) is a complex and heterogeneous genetic disease that has well-established clinical diagnostic criteria. These criteria do not include gastrointestinal tumors. CASE PRESENTATION:We report a 45-year-old patient with a clinical and molecular diagnosis of TSC and a family history of cancer, presenting two rare associated findings: gastrointestinal polyposis and pancreatic neuroendocrine tumor. This patient was subjected to a genetic test with 80 cancer predisposing genes. The genetic panel revealed the presence of a large pathogenic deletion in the TSC2 gene, covering exons 2 to 16 and including the initiation codon. No changes were identified in the colorectal cancer and colorectal polyposis genes. DISCUSSION AND CONCLUSIONS:We describe a case of TSC that presented tumors of the gastro intestinal tract that are commonly unrelated to the disease. The patient described here emphasizes the importance of considering polyposis of the gastrointestinal tract and low grade neuroendocrine tumor as part of the TSC syndromic phenotype.

journal_name

BMC Gastroenterol

journal_title

BMC gastroenterology

authors

Reis LB,Konzen D,Netto CBO,Braghini PMB,Prolla G,Ashton-Prolla P

doi

10.1186/s12876-020-01481-y

subject

Has Abstract

pub_date

2020-11-23 00:00:00

pages

394

issue

1

issn

1471-230X

pii

10.1186/s12876-020-01481-y

journal_volume

20

pub_type

杂志文章
  • Transfection of IL-10 expression vectors into endothelial cultures attenuates alpha4beta7-dependent lymphocyte adhesion mediated by MAdCAM-1.

    abstract:BACKGROUND:Enhanced expression of MAdCAM-1 (mucosal addressin cell adhesion molecule-1) is associated with the onset and progression of inflammatory bowel disease. The clinical significance of elevated MAdCAM-1 expression is supported by studies showing that immunoneutralization of MAdCAM-1, or its ligands reduce infla...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/1471-230x-3-3

    authors: Sasaki M,Jordan P,Houghton J,Meng X,Itoh M,Joh T,Alexander JS

    更新日期:2003-02-20 00:00:00

  • Paraneoplastic pemphigus and myasthenia gravis as the first manifestations of a rare case of pancreatic follicular dendritic cell sarcoma: CT findings and review of literature.

    abstract:BACKGROUND:Follicular dendritic cell sarcoma (FDCS) is a rare neoplasm that originates from follicular dendritic cells in lymphoid tissue while paraneoplastic pemphigus (PNP) is an autoimmune blistering disease associated with neoplasms. Pancreatic FDCS associated with PNP and myasthenia gravis (MG) is even rarer and h...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章,评审

    doi:10.1186/s12876-019-1008-y

    authors: Lu T,Song B,Pu H,Li X,Chen Q,Yang C

    更新日期:2019-06-14 00:00:00

  • Gastric bacterial Flora in patients Harbouring Helicobacter pylori with or without chronic dyspepsia: analysis with matrix-assisted laser desorption ionization time-of-flight mass spectroscopy.

    abstract:BACKGROUND:The gastric microbiota has recently been implicated in the causation of organic/structural gastroduodenal diseases (gastric and duodenal ulcers, gastric cancer) in patients with Helicobacter pylori (H. pylori) infection. We aimed to ascertain, in patients harbouring H. pylori, the role of the gastric microbi...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/s12876-018-0744-8

    authors: Pereira V,Abraham P,Nallapeta S,Shetty A

    更新日期:2018-01-26 00:00:00

  • Non-selective beta blocker use is associated with improved short-term survival in patients with cirrhosis referred for liver transplantation.

    abstract:BACKGROUND:Recent evidence cautions against the use of non-selective beta-blockers (NSBB) in patients with refractory ascites or spontaneous bacterial peritonitis while other data suggests a survival benefit in patients with advanced liver disease. The aim of this study was to describe the use and impact of NSBB in pat...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/s12876-019-1155-1

    authors: Ngwa T,Orman E,Gomez EV,Vuppalanchi R,Kubal C,Chalasani N,Ghabril M

    更新日期:2020-01-06 00:00:00

  • Pure alpha-fetoprotein-producing neuroendocrine carcinoma of the pancreas: a case report.

    abstract:BACKGROUND:Alpha-fetoprotein (AFP)-producing pancreatic neuroendocrine tumors (pNETs) are rare, and the few reported cases usually coexisted with other malignant components such as adenocarcinoma or hepatoid carcinoma. We present here the first case of pure AFP-producing pNET. CASE PRESENTATION:A 56-year-old male pati...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/s12876-015-0246-x

    authors: Zhu X,Yong H,Zhang L,Huang Y,Zheng J,Liu C,Xiu D,Zhang P

    更新日期:2015-02-12 00:00:00

  • Influence of cirrhosis on long-term prognosis after surgery in patients with combined hepatocellular-cholangiocarcinoma.

    abstract:BACKGROUND:Little is known about the prognostic impact of cirrhosis on long-term survival of patients with combined hepatocellular-cholangiocarcinoma (cHCC-CC) after hepatic resection. The aim of this study was to elucidate the long-term outcome of hepatectomy in cHCC-CC patients with cirrhosis. METHODS:A total of 144...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/s12876-017-0584-y

    authors: Zhou YM,Sui CJ,Zhang XF,Li B,Yang JM

    更新日期:2017-02-10 00:00:00

  • Protocol of a multicentric prospective cohort study for the VALIDation of the IBD-disk instrument for assessing disability in inflammatory bowel diseases: the VALIDate study.

    abstract:BACKGROUND:Inflammatory Bowel Diseases (IBD) affect psychological, family, social and professional dimensions of patients' life, leading to disability which is essential to quantify as part of Patient-Reported Outcomes (PROs) newly included in the targets to reach in IBD patients. Up to now, the IBD-Disability Index (I...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/s12876-020-01246-7

    authors: Le Berre C,Bourreille A,Flamant M,Bouguen G,Siproudhis L,Dewitte M,Dib N,Cesbron-Metivier E,Goronflot T,Hanf M,Gourraud PA,Kerdreux E,Poinas A,Trang-Poisson C

    更新日期:2020-04-16 00:00:00

  • A multi-country study of intussusception in children under 2 years of age in Latin America: analysis of prospective surveillance data.

    abstract:BACKGROUND:Intussusception (IS) is a form of acute intestinal obstruction that occurs mainly in infants and is usually of unknown cause. An association between IS and the first licensed rotavirus vaccine, a reassortant-tetravalent, rhesus-based rotavirus vaccine (RRV-TV), led to the withdrawal of the vaccine. New rotav...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/1471-230X-13-95

    authors: Sáez-Llorens X,Velázquez FR,Lopez P,Espinoza F,Linhares AC,Abate H,Nuñez E,Venegas G,Vergara R,Jimenez AL,Rivera M,Aranza C,Richardson V,Macias-Parra M,Palacios GR,Rivera L,Ortega-Barria E,Cervantes Y,Rüttimann R,Ru

    更新日期:2013-05-27 00:00:00

  • HPV positive, wild type TP53, and p16 overexpression correlate with the absence of residual tumors after chemoradiotherapy in anal squamous cell carcinoma.

    abstract:BACKGROUND:Anal residual tumors are consensually identified within six months of chemoradiotherapy and represent a persistent lesion that may have prognostic value for overall survival. The aim of this study was to evaluate the association of HPV and HIV status, p16 expression level and TP53 mutations with the absence ...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/s12876-018-0758-2

    authors: Soares PC,Abdelhay ES,Thuler LCS,Soares BM,Demachki S,Ferro GVR,Assumpção PP,Lamarão LM,Ribeiro Pinto LF,Burbano RMR

    更新日期:2018-02-21 00:00:00

  • Risk factors for hepatitis C virus infection among blood donors in southern Brazil: a case-control study.

    abstract:BACKGROUND:In Brazil, it is estimated that between 2.5 and 4.9% of the general population present anti-hepatitis C virus (HCV) antibodies, which corresponds to as many as 3.9 to 7.6 million chronic carriers. Chronic liver disease is associated with HCV infection in 20% to 58% of the Brazilian patients. The objective of...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/1471-230x-2-18

    authors: Brandão AB,Fuchs SC

    更新日期:2002-08-08 00:00:00

  • Protective effects of hydrogen enriched saline on liver ischemia reperfusion injury by reducing oxidative stress and HMGB1 release.

    abstract:BACKGROUND:The nuclear protein high-mobility group box 1 (HMGB1) is a key trigger for the inflammatory reaction during liver ischemia reperfusion injury (IRI). Hydrogen treatment was recently associated with down-regulation of the expression of HMGB1 and pro-inflammatory cytokines during sepsis and myocardial IRI, but ...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/1471-230X-14-12

    authors: Liu Y,Yang L,Tao K,Vizcaychipi MP,Lloyd DM,Sun X,Irwin MG,Ma D,Yu W

    更新日期:2014-01-12 00:00:00

  • A retrospective case-control study of hepatitis C virus infection and oral lichen planus in Japan: association study with mutations in the core and NS5A region of hepatitis C virus.

    abstract:BACKGROUND:The aims of this study were to assess the prevalence of hepatitis C virus (HCV) infection in Japanese patients with oral lichen planus and identify the impact of amino acid (aa) substitutions in the HCV core region and IFN-sensitivity-determining region (ISDR) of nonstructural protein 5A (NS5A) associated wi...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/1471-230X-12-31

    authors: Nagao Y,Sata M

    更新日期:2012-04-10 00:00:00

  • Efficacy and safety of infliximab induction therapy in Crohn's Disease in Central Europe--a Hungarian nationwide observational study.

    abstract:BACKGROUND:Infliximab (IFX) has proven to be an effective addition to the therapeutic arsenal for refractory, fistulizing, and steroid dependent Crohn's disease (CD), with efficacy in the induction and maintenance of clinical remission of CD. Our objective in this study is to report the nationwide, multicenter experien...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章,多中心研究

    doi:10.1186/1471-230X-9-66

    authors: Miheller P,Lakatos PL,Horváth G,Molnár T,Szamosi T,Czeglédi Z,Salamon A,Czimmer J,Rumi G,Palatka K,Papp M,Jakab Z,Szabó A,Gelley A,Lakatos L,Barta Z,Balázs C,Rácz I,Zeher M,Döbrönte Z,Altorjay I,Hunyady B,Simo

    更新日期:2009-09-10 00:00:00

  • Positive regulatory effects of perioperative probiotic treatment on postoperative liver complications after colorectal liver metastases surgery: a double-center and double-blind randomized clinical trial.

    abstract:BACKGROUND:Colorectal liver metastases (CLM) occur frequently and postoperative intestinal infection is a common complication. Our previous study showed that probiotics could decrease the rate of infectious complications after colectomy for colorectal cancer. To determine the effects of the perioperative administration...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1186/s12876-015-0260-z

    authors: Liu Z,Li C,Huang M,Tong C,Zhang X,Wang L,Peng H,Lan P,Zhang P,Huang N,Peng J,Wu X,Luo Y,Qin H,Kang L,Wang J

    更新日期:2015-03-20 00:00:00

  • Allergic proctocolitis refractory to maternal hypoallergenic diet in exclusively breast-fed infants: a clinical observation.

    abstract:BACKGROUND:Allergic proctocolitis (APC) in exclusively breast-fed infants is caused by food proteins, deriving from maternal diet, transferred through lactation. In most cases a maternal cow milk-free diet leads to a prompt resolution of rectal bleeding, while in some patients a multiple food allergy can occur. The aim...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/1471-230X-11-82

    authors: Lucarelli S,Di Nardo G,Lastrucci G,D'Alfonso Y,Marcheggiano A,Federici T,Frediani S,Frediani T,Cucchiara S

    更新日期:2011-07-16 00:00:00

  • Leukocytoclastic vasculitis as a rare dermatologic manifestation of Crohn's disease mimicking cellulitis: a case report.

    abstract:BACKGROUND:Leukocytoclastic vasculitis (LCV) is an immune-complex mediated vasculitis characterized by neutrophilic inflammation and nuclear debris in post capillary venules. LCV is a rare dermatologic manifestation of Crohn's disease (CD) and may occur with the onset of the disease or any time after the diagnosis incl...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/s12876-020-01371-3

    authors: Buck M,Dumic I,McDermott W,Nordstrom C,Dawan S,Virata A,Martin S,Hudson A,Milovanovic T,Nordin T

    更新日期:2020-07-29 00:00:00

  • HCV genotype 1a shows a better virological response to antiviral therapy than HCV genotype 1b.

    abstract:BACKGROUND:The impact of viral subtype on the rate of sustained virological response (SVR) to antiviral therapy in patients chronically infected with hepatitis C genotype 1 subtype 1a and 1b has not been extensively investigated. The aim of this study is to determine whether the HCV genotype 1 subtypes 1a and 1b respon...

    journal_title:BMC gastroenterology

    pub_type: 临床试验,杂志文章

    doi:10.1186/1471-230X-12-162

    authors: Pellicelli AM,Romano M,Stroffolini T,Mazzoni E,Mecenate F,Monarca R,Picardi A,Bonaventura ME,Mastropietro C,Vignally P,Andreoli A,Marignani M,D'Ambrosio C,Miglioresi L,Nosotti L,Mitidieri O,Gentilucci UV,Puoti C,Barba

    更新日期:2012-11-16 00:00:00

  • Hepatic sonic hedgehog protein expression measured by computer assisted morphometry significantly correlates with features of non-alcoholic steatohepatitis.

    abstract:BACKGROUND:Hepatic expression of Sonic Hedgehog (SHH) is associated with Non-alcoholic fatty liver disease (NAFLD) and development of Non-alcoholic steatohepatitis (NASH). Hepatic SHH detection increases with the diagnosis of NASH. This pilot study was designed to confirm that staining for SHH is useful in NASH diagnos...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/s12876-019-0951-y

    authors: Estep M,Mehta R,Bratthauer G,Alaparthi L,Monge F,Ali S,Abdelatif D,Younoszai Z,Stepanova M,Goodman ZD,Younossi ZM

    更新日期:2019-02-11 00:00:00

  • Fibroblast growth factor 23 contributes to diminished bone mineral density in childhood inflammatory bowel disease.

    abstract:BACKGROUND:Diminished bone mineral density (BMD) is of significant concern in pediatric inflammatory bowel disease (IBD). Exact etiology is debatable. The recognition of fibroblast growth factor 23 (FGF23), a phosphaturic hormone related to tumor necrosis factor alpha (TNF-α) makes it plausible to hypothesize its possi...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/1471-230X-12-44

    authors: El-Hodhod MA,Hamdy AM,Abbas AA,Moftah SG,Ramadan AA

    更新日期:2012-05-02 00:00:00

  • High-definition endoscopy with digital chromoendoscopy for histologic prediction of distal colorectal polyps.

    abstract:BACKGROUND:Distal diminutive colorectal polyps are common and accurate endoscopic prediction of hyperplastic or adenomatous polyp histology could reduce procedural time, costs and potential risks associated with the resection. Within this study we assessed whether digital chromoendoscopy can accurately predict the hist...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/s12876-015-0374-3

    authors: Rath T,Tontini GE,Nägel A,Vieth M,Zopf S,Günther C,Hoffman A,Neurath MF,Neumann H

    更新日期:2015-10-22 00:00:00

  • 3D high-resolution anorectal manometry in patients with perianal fistulas: comparison with 3D-anal ultrasound.

    abstract:BACKGROUND:Perianal fistula surgery can damage the anal sphincters which may cause faecal incontinence. By measuring regional pressures, 3D-HRAM potentially provides better guidance for surgical strategy in patients with perianal fistulas. The aim was to measure regional anal pressures with 3D-HRAM and to compare these...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/s12876-018-0770-6

    authors: Felt-Bersma RJF,Vlietstra MS,Vollebregt PF,Han-Geurts IJM,Rempe-Sorm V,Vander Mijnsbrugge GJH,Molenaar CBH

    更新日期:2018-04-04 00:00:00

  • High mobility group B1 impairs hepatocyte regeneration in acetaminophen hepatotoxicity.

    abstract:BACKGROUND:Acetaminophen (APAP) overdose induces massive hepatocyte necrosis. Necrotic tissue releases high mobility group B1 (HMGB1), and HMGB1 contributes to liver injury. Even though blockade of HMGB1 does not protect against APAP-induced acute liver injury (ALI) at 9 h time point, the later time points are not stud...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/1471-230X-12-45

    authors: Yang R,Zhang S,Cotoia A,Oksala N,Zhu S,Tenhunen J

    更新日期:2012-05-08 00:00:00

  • Trends in gastroenteritis-associated mortality in the United States, 1985-2005: variations by ICD-9 and ICD-10 codes.

    abstract:BACKGROUND:Trends in gastroenteritis-associated mortality are changing over time with development of antibiotic resistant strains of certain pathogens, improved diagnostic methods, and changing healthcare. In 1999, ICD-10 coding was introduced for mortality records which can also affect trends. We assess trends in gast...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/s12876-014-0211-0

    authors: Jagai JS,Smith GS,Schmid JE,Wade TJ

    更新日期:2014-12-10 00:00:00

  • Desmoid tumors complicating Familial Adenomatous Polyposis: a meta-analysis mutation spectrum of affected individuals.

    abstract:BACKGROUND:Desmoid tumors are a group of benign, invasive, solid tumors that are relatively rare in the general population, but can occur in up to 21 % of patients with Familial Adenomatous Polyposis (FAP). They can be difficult to treat and have high rates of recurrence even after resection. Our goal with this study w...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章,meta分析

    doi:10.1186/s12876-015-0306-2

    authors: Slowik V,Attard T,Dai H,Shah R,Septer S

    更新日期:2015-07-16 00:00:00

  • Folate levels in hepatocellular carcinoma patients with portal vein thrombosis.

    abstract:BACKGROUND:Portal vein thrombosis (PVT) occurs frequently in hepatocellular carcinoma (HCC) and is often diagnosed in the course of a routine patient evaluation and surveillance for liver cancer. The purpose of this study is to investigate the relationship between folate status and portal vein thrombosis. METHODS:HCC ...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/s12876-020-01525-3

    authors: Malaguarnera G,Catania VE,Latteri S,Borzì AM,Bertino G,Madeddu R,Drago F,Malaguarnera M

    更新日期:2020-11-10 00:00:00

  • Unusual manifestation of Erdheim-Chester disease.

    abstract:BACKGROUND:Erdheim-Chester disease (ECD) is a rare multisystem non-Langerhans cell histiocytosis that is characterized histologically by xanthogranulomatous infiltrates and radiologically by symmetrical sclerosis of long bones. The xanthomatous process is characterized by prominent foamy histiocytes staining positive f...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/1471-230X-11-77

    authors: Pan A,Doyle T,Schlup M,Lubcke R,Schultz M

    更新日期:2011-06-22 00:00:00

  • Green tea consumption and risk of esophageal cancer: a meta-analysis of epidemiologic studies.

    abstract:BACKGROUND:Green tea has shown the role of chemoprevention for cancer. Recently, several studies suggested that green tea intake may have effect on esophageal cancer risk, whereas the results were inconsistent. METHODS:We performed a meta-analysis of all English and Chinese language studies of green tea consumption an...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章,meta分析

    doi:10.1186/1471-230X-12-165

    authors: Zheng P,Zheng HM,Deng XM,Zhang YD

    更新日期:2012-11-21 00:00:00

  • Acute cholecystitis with massive upper gastrointestinal bleed: a case report and review of the literature.

    abstract:BACKGROUND:Cystic artery pseudoaneurysm is a rare complication following cholecystitis. Its presentation with upper gastrointestinal hemorrhage (UGIH) is even rarer. Thirteen patients with cystic artery pseudoaneurysm have been reported in the literature but only 2 of them presented with UGIH alone. CASE PRESENTATION:...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章,评审

    doi:10.1186/1471-230X-7-12

    authors: Saluja SS,Ray S,Gulati MS,Pal S,Sahni P,Chattopadhyay TK

    更新日期:2007-03-26 00:00:00

  • Possible etiology of improvements in both quality of life and overlapping gastroesophageal reflux disease by proton pump inhibitor treatment in a prospective randomized controlled trial.

    abstract:BACKGROUND:Symptoms suggestive of functional dyspepsia (FD) and irritable bowel syndrome (IBS) frequently overlap with those of gastroesophageal reflux disease. Despite the high prevalence of symptomatic overlap, the underlying etiology remains poorly defined. We assessed the correlation of symptomatic relief and healt...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1186/1471-230X-13-145

    authors: Mönnikes H,Schwan T,van Rensburg C,Straszak A,Theek C,Lühmann R,Sander P,Tholen A

    更新日期:2013-10-01 00:00:00

  • Diffuse duodenal nodular lymphoid hyperplasia: a large cohort of patients etiologically related to Helicobacter pylori infection.

    abstract:BACKGROUND:Nodular lymphoid hyperplasia of gastrointestinal tract is a rare disorder, often associated with immunodeficiency syndromes. There are no published reports of its association with Helicobacter pylori infection. METHODS:From March 2005 till February 2010, we prospectively followed all patients with diffuse d...

    journal_title:BMC gastroenterology

    pub_type: 杂志文章

    doi:10.1186/1471-230X-11-36

    authors: Khuroo MS,Khuroo NS,Khuroo MS

    更新日期:2011-04-11 00:00:00