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Front Oncol 2021 25;11:658389. Epub 2021 Mar 25.

Department of Oncology, Nanjing Tongren Hospital, Nanjing, China.

Deleterious mutations in gene cause the autosomal dominant familial adenomatous polyposis (FAP) which is typically characterized by the occurrence of hundreds to thousands of colorectal adenomas that eventually lead to colorectal cancers (CRCs). are the two major susceptibility genes for breast and ovarian cancers. Here, we reported a coinheritance of mutations in and genes in a 20-year-old CRC patient with typical clinical features for FAP. Read More

Am J Otolaryngol 2021 Mar 31;42(5):103024. Epub 2021 Mar 31.

Otorhinolaryngology Research Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

Objective: In this study we aimed to determine whether Desmopressin (DDAVP) can alter bleeding and improves surgeon visual field and decrease operation time or lessen use of anesthesiology medication in a clinical trial study.

Method: This study is a randomized clinical trial using the permuted block randomization method. 44 patients were enrolled in study and divided into two equal intervention-control groups. Read More

Am J Otolaryngol 2021 Mar 31;42(5):103016. Epub 2021 Mar 31.

Department of Otolaryngology, Division of Pediatric Otolaryngology, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, PA, United States of America.

Purpose: Pediatric cystic fibrosis (CF) patients have a variable onset, severity, and progression of sinonasal disease. The objective of this study was to identify genotypic and phenotypic factors associated with CF that are predictive of sinonasal disease, recurrent nasal polyposis, and failure to respond to standard treatment.

Methods: A retrospective case series was conducted of 30 pediatric patients with CF chronic rhinosinusitis with and without polyps. Read More

Ann Otol Rhinol Laryngol 2021 Apr 9:34894211007240. Epub 2021 Apr 9.

Division of Rhinology and Endoscopic Skull Base Surgery, Department of Otolaryngology-Head and Neck Surgery, University of Washington, Seattle WA, USA.

Objectives: There is a paucity of data on postoperative infections after endoscopic sinus surgery and associated risk factors. Our objective was to evaluate a cohort of patients undergoing endoscopic sinus surgery (ESS) for chronic rhinosinusitis to determine which perioperative factors may be associated with infection in the 30-day postoperative period.

Methods: A retrospective cohort study of adults who underwent ESS at a tertiary academic medical center from 2015 to 2018 was performed. Read More

Gut 2021 Apr 8. Epub 2021 Apr 8.

Gastroenterology and Digestive Oncology Department, Hopital Cochin - GH APHP Centre - Université de Paris, Paris, France.

BMC Cancer 2021 Apr 7;21(1):363. Epub 2021 Apr 7.

Laboratory of Human and Medical Genetics, Graduate Program Genetics and Molecular Biology, Federal University of Pará, Belém, Pará, Brazil.

Background: Next generation sequencing (NGS) has been a handy tool in clinical practice, mainly due to its efficiency and cost-effectiveness. It has been widely used in genetic diagnosis of several inherited diseases, and, in clinical oncology, it may enhance the discovery of new susceptibility genes and enable individualized care of cancer patients. In this context, we explored a pan-cancer panel in the investigation of germline variants in Brazilian patients presenting clinical criteria for hereditary cancer syndromes or familial history. Read More

Tech Coloproctol 2021 Apr 7. Epub 2021 Apr 7.

Department of Colorectal and Anal Surgery of Zhongnan Hospital of Wuhan University, Clinical Center of Intestinal and Colorectal Diseases of Hubei Province, Hubei Key Laboratory of Intestinal and Colorectal Diseases (Zhongnan Hospital of Wuhan University), Colorectal and Anal Disease Research Center of Medical School (Zhongnan Hospital of Wuhan University), Quality Control Center of Colorectal and Anal Surgery of Health Commission of Hubei Province, No. 169, DongHu Road, Wuhan, China.

Background: Ileal J-pouch anal anastomosis (J-IPAA) is the standard approach for patients requiring restorative proctocolectomy due to familial adenomatous polyposis (FAP) or ulcerative colitis (UC). To obviate the risk of a J-tip leak, we modified the J-pouch with a D-pouch anal anastomosis (D-IPAA) designed to eliminate the ileal stump. The aim of our study was to evaluate the feasibility, safety and medium-term functional outcomes of D-IPAA. Read More

Acta Otolaryngol 2021 Apr 7:1-9. Epub 2021 Apr 7.

Hackensack Meridian School of Medicine, Seton Hall University, Nutley, NJ, USA.

Background: Eosinophilic Otitis Media (EOM) is a relatively newly defined entity of recurrent and resistant otitis media.

Objective: To perform a systematic review of otologic manifestations, diagnosis and management of eosinophilic otitis media (EOM).

Methods: 393 patients diagnosed with EOM of 26 studies met inclusion criteria and were assessed for demographics, otologic manifestations, diagnostic criteria fulfilled, and medical and surgical treatments. Read More

Fam Cancer 2021 Apr 6. Epub 2021 Apr 6.

Department of Gastroenterology, Hepatology and Nutrition, Cleveland Clinic Foundation, Cleveland, USA.

Clinicians may be hesitant to prescribe biologics or immunomodulators to individuals with familial adenomatous polyposis (FAP) and comorbid inflammatory disease (CID) because of increased cancer risk. Our aim was to compare the risk of malignancy in FAP individuals with inflammatory bowel (IBD) and/or rheumatic disease that received biologics/immunomodulators to those who did not. Individuals with FAP and CID were included in the study. Read More

Hum Mol Genet 2021 Apr 2. Epub 2021 Apr 2.

Translational Gastroenterology Unit, University of Oxford, Oxford, United Kingdom.

Background: Ultrarare genetic disorders can provide proof of concept for efficacy of targeted therapeutics and reveal pathogenic mechanisms relevant to more common conditions. Juvenile polyposis of infancy (JPI) is caused by microdeletions in chromosome 10 that result in haploinsufficiency of two tumor suppressor genes: phosphatase and tensin homolog deleted on chromosome 10 (PTEN) and bone morphogenetic protein receptor, type IA (BMPR1A). Loss of PTEN and BMPR1A results in a much more severe phenotype then deletion of either gene alone, with infantile onset pan-enteric polyposis and a high mortality rate. Read More

Dig Liver Dis 2021 Apr 1. Epub 2021 Apr 1.

First Department of Internal Medicine, University of Pavia, IRCCS San Matteo Hospital Foundation, Viale Golgi 19, 27100, Italy.

Background: Duodenal polyps and superficial mucosal lesions (DP/SMLs) are poorly characterised.

Aims: To describe a series of endoscopically-diagnosed extra-ampullary DPs/SMLs.

Methods: This is a retrospective study conducted in a tertiary referral Endoscopy Unit, including patients who had DPs or SMLs that were biopsied or removed in 2010-2019. Read More

Lancet Gastroenterol Hepatol 2021 Apr 1. Epub 2021 Apr 1.

Department of Gastroenterology, Hepatology & Nutrition, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. Electronic address:

Lancet Gastroenterol Hepatol 2021 Apr 1. Epub 2021 Apr 1.

Department of Drug Discovery Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan.

Background: The only established treatment for preventing colorectal cancer in patients with familial adenomatous polyposis (FAP) is colectomy, which greatly reduces patient quality of life. Thus, an alternative method is warranted. In this trial, we aimed to clarify the individual and joint effects of low-dose aspirin and mesalazine on the recurrence of colorectal polyps in Japanese patients with FAP. Read More

Cancers (Basel) 2021 Mar 22;13(6). Epub 2021 Mar 22.

Center for Epigenetics & Disease Prevention, Texas A&M Health, Department of Translational Medical Sciences, Texas A&M College of Medicine, Houston, TX 77030, USA.

There is growing evidence that DNA repair factors have clinical value for cancer treatment. Nucleotide excision repair (NER) proteins, including excision repair cross-complementation group 2 (ERCC2), play a critical role in maintaining genome integrity. Here, we examined ERCC2 expression following epigenetic combination drug treatment. Read More

Cancers (Basel) 2021 Mar 3;13(5). Epub 2021 Mar 3.

Digestive Disease Section, Hospital Universitario de Móstoles, 28935 Móstoles, Spain.

Serrated polyposis syndrome (SPS) implies a slightly elevated risk of colorectal cancer (CRC) during endoscopic follow-up, but its natural course is still not well known. The main objective of this study was to describe the long-term risk of developing advanced neoplasia (AN) in these patients. Until October 2020, individuals who fulfilled 2010 WHO criteria I and/or III for SPS were retrospectively recruited. Read More

Int J Mol Sci 2021 Mar 27;22(7). Epub 2021 Mar 27.

Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.

In this review, we discuss the role of transforming growth factor-beta (TGF-β) in the development of pulmonary vascular disease (PVD), both pulmonary arteriovenous malformations (AVM) and pulmonary hypertension (PH), in hereditary hemorrhagic telangiectasia (HHT). HHT or Rendu-Osler-Weber disease is an autosomal dominant genetic disorder with an estimated prevalence of 1 in 5000 persons and characterized by epistaxis, telangiectasia and AVMs in more than 80% of cases, HHT is caused by a mutation in the ENG gene on chromosome 9 encoding for the protein endoglin or activin receptor-like kinase 1 (ACVRL1) gene on chromosome 12 encoding for the protein ALK-1, resulting in HHT type 1 or HHT type 2, respectively. A third disease-causing mutation has been found in the SMAD-4 gene, causing a combination of HHT and juvenile polyposis coli. Read More

Front Vet Sci 2021 10;8:645807. Epub 2021 Mar 10.

Jiangsu Key Laboratory of Immunity and Metabolism, Department of Pathogen Biology and Immunology, Xuzhou Medical University, Xuzhou, China.

The deposition of () eggs commonly induces inflammation, fibrosis, hyperplasia, ulceration, and polyposis in the colon, which poses a serious threat to human health. However, the underlying mechanism is largely neglected. Recently, the disorder of glucose and lipid metabolism was reported to participate in the liver fibrosis induced by the parasite, which provides a novel clue for studying the underlying mechanism of the intestinal pathology of the disease. Read More

Front Cell Dev Biol 2021 15;9:641052. Epub 2021 Mar 15.

Research Center for Translational Medicine, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China.

Cancer stem cells (CSCs) are believed to be the main source of cancer relapse and metastasis. PIWI-interacting small non-coding RNAs (piRNAs) have been recently recognized to be relevant to cancer biology. Whether and how piRNAs regulate human CSCs remain unknown. Read More

Exp Ther Med 2021 May 16;21(5):488. Epub 2021 Mar 16.

Department of Stomatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.

Gardner's syndrome is a rare autosomal dominant hereditary disease that is characterized by multiple colorectal polyps combined with extra-colonic presentation (such as osteoma or desmoid tumors) of familial adenomatous polyposis syndrome. Gardner's syndrome is caused by the mutation of the adenomatous polyposis coli () gene, which is located at 5q21. The aim of the current study was to investigate the gene mutations present in a Han Chinese family diagnosed with Gardner's syndrome. Read More

Anticancer Res 2021 Mar;41(3):1439-1444

Division of Gastroenterology, Hepatology and Nutrition, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, OH, U.S.A.

Background/aim: Chemopreventative therapeutics may be helpful in familial adenomatous polyposis (FAP) management; however, prospective chemopreventative studies are complicated by potential ototoxicity and pre-existing hearing loss. The aim of this study was to establish and compare baseline hearing status of children and adolescents with FAP and their unaffected siblings.

Patients And Methods: Twenty FAP pediatric patients with documented mutation of the adenomatous polyposis coli (APC) gene and nine unaffected sibling controls underwent baseline hearing evaluation, including audiometry, speech perception testing, and middle and inner ear physiologic measures. Read More

Anticancer Res 2021 Mar;41(3):1299-1305

Department of Molecular-Targeting Prevention, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.

Background/aim: A xanthophyll of fucoxanthin (Fx) is a potential chemopreventive agent. Familial adenomatous polyposis (FAP) is an inherited disease that is associated with a high risk of developing colorectal cancer. However, it remains unclear whether Fx can modify colorectal tumorigenesis in Apc mice, a model mouse for human FAP. Read More

Rev Col Bras Cir 2021 24;48:e20202791. Epub 2021 Mar 24.

- Hospital das Clínicas- UFMG, Instituto Alfa de Gastroenterologia - Belo Horizonte - MG - Brasil.

Purpose: restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) is the surgical procedure of choice in some cases of familial adenomatous polyposis (FAP) and ulcerative colitis (UC). IPAA allows complete removal of the diseased colon and rectum, however, it is associated with substantial morbidity and potential consequences to patients' quality of life (QoL).

Aims: to evaluate the surgical results, functional outcomes and QoL after IPAA; and to examine the impact of surgical complications upon QoL. Read More

Medicine (Baltimore) 2021 Apr;100(13):e25247

Department of Oncology, Longhua Hospital Affiliated to Shanghai University of Traditional Chinese Medicine (TCM), Shanghai, China.

Rationale: Gardner syndrome is a rare autosomal dominant disorder with a high degree of penetrance, which is characterized by intestinal polyposis, osteomas, and dental abnormalities. Majority of patients with Gardner syndrome will develop colorectal cancer by the age of 40 to 50 years. Mutations in the adenomatous polyposis coli gene are supposed to be responsible for the initiation of Gardner syndrome. Read More

Curr Treat Options Gastroenterol 2020 Dec 19;18(4):604-615. Epub 2020 Oct 19.

Department of Medicine and Cancer Center. Yale University. New Haven, Connecticut.

Purpose Of Review: Gastric cancer is a leading cause of cancer death in the world. Between 1% and 3% of cases are associated with specific genetic cancer risk syndromes. The purpose of this article is to review the latest insights, as well as gaps in knowledge, regarding some of the most common hereditary gastric cancer syndromes: hereditary diffuse gastric cancer (HDGC), gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), Lynch syndrome, the adenomatous polyposis syndromes, and the hamartomatous polyposis syndromes. Read More

J Clin Lab Anal 2021 Mar 26:e23768. Epub 2021 Mar 26.

Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.

Background: Familial adenomatous polyposis (FAP) as a colon cancer predisposition syndrome is an autosomal-dominant inherited condition and is diagnosed by the progress of hundreds or thousands of adenomatous colonic polyps in the colon. This study aims at the nature and effect of Adenomatous Polyposis Coli (APC) gene mutations in FAP tumorigenesis.

Methods: The genetic screening of 59 FAP Iranian patients in 10 families was performed by polymerase chain reactions and the direct sequencing of the entire coding exons of the APC gene. Read More

Clin Case Rep 2021 Mar 16;9(3):1428-1432. Epub 2021 Jan 16.

Otorhinolaryngology Unit Division of Head and Neck Department IRCCS San Raffaele Scientific Institute Milano Italy.

Treatment options for severe CRSwNP are limited. Dupilumab is a safe, well-tolerated, and effective alternative in patients with poor control of symptoms, corticosteroid-dependent disease, and high rates of recurrence of nasal polyps after surgery. Read More

J Med Genet 2021 Mar 25. Epub 2021 Mar 25.

Cancer Genetics Unit, Advanced Centre for Treatment Research and Education in Cancer, Navi Mumbai, Maharashtra, India

Management of familial adenomatous polyposis (FAP) is guided by the cumulative risk of colorectal cancer (CRC) and aggressive fibromatosis/desmoid (AF/D). The first non-Caucasian FAP cohort with cumulative risk estimates for CRC and AF/D shows distinct differences with the Caucasian and other Asian cohorts. The strong correlation between the adenomatous polyposis coli (APC) mutation location with the FAP phenotype and the geoethnic differences in APC mutation spectrum, genetic constitution, lifestyle and sporadic CRC rates, mandates the use of population-specific cumulative risk estimates for CRC and desmoid for counselling and risk management. Read More

Gut 2021 Mar 23. Epub 2021 Mar 23.

Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK

Objective: Primary sclerosing cholangitis (PSC) is in 70% of cases associated with inflammatory bowel disease. The hypermorphic T108M variant of the orphan G protein-coupled receptor GPR35 increases risk for PSC and ulcerative colitis (UC), conditions strongly predisposing for inflammation-associated liver and colon cancer. Lack of GPR35 reduces tumour numbers in mouse models of spontaneous and colitis associated cancer. Read More

J Allergy Clin Immunol 2021 Mar 20. Epub 2021 Mar 20.

Department of Medicine, Division of Allergy, Pulmonary and Critical Care Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States.

Taking a novel approach, this narrative review collates knowledge about nasal polyposis and the biological functions of IgE in several diseases (allergic rhinitis, allergic asthma, non-steroidal anti-inflammatory drugs-exacerbated respiratory disease [N-ERD] and chronic spontaneous urticaria) to consider which IgE-mediated mechanisms are relevant to nasal polyposis pathology. A type 2 (T2) eosinophil-dominated inflammatory signature is typical in nasal polyp tissue of European patients with nasal polyposis, with a shift towards this endotype observed in Asian populations in recent years. Elevated polyclonal IgE is present in the nasal tissue of patients with and without allergy. Read More

Int Arch Allergy Immunol 2021 Mar 23:1-8. Epub 2021 Mar 23.

Department of Otorhinolaryngology Head and Neck Surgery, University of Zurich and University Hospital Zurich, Zurich, Switzerland,

Introduction: Few studies assess biologicals such as, omalizumab, mepolizumab, benralizumab, and dupilumab in patients suffering from chronic rhinosinusitis with nasal polyposis (CRSwNP). The reported success rate in these studies differ, and it remains uncertain if there are any biomarkers to predict successful therapy. Our aim was to analyze the therapeutic outcome in a real life setting and to identify predictive biomarkers for successful treatment. Read More