Publications by authors named "Ori Segol"

Deciphering the spectrum and founder disease-causing variants (DCVs) in specific populations can shape and facilitate the diagnostic process of Lynch Syndrome (LS). The aim of this report was to comprehensively update on the genetic landscape of LS in the ethnically diverse Israeli-Jewish population. The cohort included 1080 carriers from 588 families; some from underrepresented, understudied Israeli ethnic groups recruited from 8 genetic institutes and high-risk clinics throughout the country.

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Article Synopsis
  • POT1 is an important gene involved in protecting and regulating the length of telomeres, and mutations in this gene can increase cancer risk, particularly for melanoma and chronic lymphocytic leukemia (CLL).
  • A specific mutation, p.(I78T), has been identified as a common pathogenic variant among Ashkenazi Jews, linked to a range of cancers and recurrent melanoma in individuals aged 25 to 67.
  • Research suggests that this variant should be included in genetic testing for high-risk patients of Ashkenazi Jewish descent due to its association with early-onset severe cancers.
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Founder pathogenic variants (PVs) are prevalent in Israel. This study investigated the current practice of offering cancer patients two-step genetic testing, starting with targeted testing for recurring founder PVs, followed, if negative, by next-generation sequencing. A total of 2128 subjects with cancer or a positive family history underwent oncogenetic testing with a panel of 51 recurring PVs at a tertiary medical center in March 2020-January 2023.

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Background: Crohn's disease (CD) and ulcerative colitis (UC) are chronic, immune-mediated inflammatory bowel diseases (IBD) affecting millions of people worldwide. IBD therapies, designed for continuous immune suppression, often render patients more susceptible to infections. The effect of the immune suppression on the risk of coronavirus disease-19 (COVID-19) is not fully determined yet.

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Background And Aims: Colorectal cancer is a leading cause of death. Colonoscopy is the criterion standard for detection and removal of precancerous lesions and has been shown to reduce mortality. The polyp miss rate during colonoscopies is 22% to 28%.

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Esophageal perforation is a serious disease which entails significant morbidity and mortality. Barogenic perforation (Boerhaave's type perforation) is considered as having a relatively poor prognosis. We present a case of barogenic perforation treated initially with surgery for primary repair leading to the formation of a control fistula.

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Background: A fecal test followed by diagnostic colonoscopy for a positive result is a widely endorsed screening strategy for colorectal cancer (CRC). However, the relationship between the time delay from the positive test to the follow-up colonoscopy and CRC mortality has not been established.

Methods: From a population-based screening program, we identified CRC patients newly diagnosed from 2005 through 2015 by a positive fecal occult test followed by a colonoscopy.

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Patients with diabetes have distinct risks during precolonoscopy bowel preparation, caused by change of diet, change of antihyperglycemic medication regimens and diabetes-related complications and comorbidities. These risks include hypoglycemia, water and electrolyte imbalance, acute renal failure, lactic acidosis, ketoacidosis and low quality of bowel preparation. Here we review the existing literature and present recommendations from a subcommittee of the Israeli National Diabetes Council for primary care physicians and gastroenterologists.

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Background: Systemic inflammation and nutritional deficiencies are characteristics of Crohn's disease (CD) and have been suggested to influence cognitive performance. This study assessed cognitive function in patients with CD.

Methods: Participants were adult patients with CD arriving at routine follow-up.

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Background And Study Aims: Adenoma miss rate during colonoscopy has become a widely acknowledged proxy measure for post-colonoscopy colorectal cancer. Among other reasons, this can happen because of inadequate visualization of the proximal aspects of colonic folds and flexures. EndoRings (EndoAid Ltd.

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Background: Although colonoscopy is the accepted standard for detection of colorectal adenomas and cancers, many adenomas and some cancers are missed. To avoid interval colorectal cancer, the adenoma miss rate of colonoscopy needs to be reduced by improvement of colonoscopy technique and imaging capability. We aimed to compare the adenoma miss rates of full-spectrum endoscopy colonoscopy with those of standard forward-viewing colonoscopy.

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Background And Study Aims: Although colonoscopy is the criterion standard for detecting colorectal adenomas and cancers, a significant percentage of adenomas are missed with this technique. We aimed to establish the feasibility, usability, and safety of a novel colonoscopy platform featuring full-spectrum endoscopy (FUSE).

Patients And Methods: This was a prospective, single-center pilot and feasibility study.

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Background: Although colonoscopy is the criterion standard for detecting colorectal adenomas and cancers, a significant percentage of adenomas are missed.

Objective: To compare forward-viewing with ultrawide-viewing colonoscopy in the detection of simulated colon polyps in an in vitro colon model.

Design: Prospective, multicenter.

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Capsule endoscopy has been in clinical practice for approximately a decade. The original capsule was designed for the small bowel, followed by esophageal, patency and colonic capsules. The aim of the present guidelines are to update the readers with the mode and preparations for use of the various capsules, the indications, as well as absolute and relative contraindications for their use.

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Objectives: We compared sedation by propofol combined with either fentanyl or remifentanil in pediatric outpatients undergoing diagnostic esophagogastroduodenoscopy.

Patients And Methods: Forty-two children scheduled for esophagogastroduodenoscopy in our institution were randomly assigned to receive 2 mg/kg propofol plus either 1 μg/kg bolus of fentanyl (group F; n = 20) or 0.5 μg/kg bolus of remifentanil (group R; n = 22).

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Background: Performing a full-thickness intestinal wall resection of a sessile polyp located on the mesenteric side with a compression clip may lead to compression of mesenteric vessels. The application of such a clip may therefore cause a compromised blood supply in the particular bowel segment, leading to perforation.

Objective: To evaluate the performance of a newly developed, nitinol compression clip, called the NiTi clamp, for full-thickness resection of the bowel wall, while the clip is deliberately deployed endoluminally on the mesenteric side.

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Background: The Sightline ColonoSight (CS) colonoscopy system presents 3 technologic advances: (1) disposable components protect the reusable parts from contact with colonic contents, eliminating the need for disinfection between procedures, (2) an air-pressure-powered engine assists in colonoscope advancement, (3) light emitting diode (LED) illumination eliminates the need for fiber optics and an external light source.

Objectives: To study the operation, performance, and safety of the Sightline CS colonoscopy system.

Design: The system was tested during colonoscopy in animals and in human pilot studies.

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The present study determined the acceptability of colonoscopy in outpatients treated with tramadol or fentanyl for analgesia and sedation. One hundred fifty patients were randomly assigned to receive midazolam, 0.05 mg/kg, and fentanyl, 2 microg/kg, intravenously (group 1), midazolam, 0.

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Objective: The aim of this study was to describe arthritis or vasculitis as initial manifestations of Crohn's disease (CD).

Methods: We describe three cases in which the rheumatological manifestations preceded the bowel disease and one with rheumatological manifestation and asymptomatic gut inflammation. The information on clinical manifestations, laboratory examination results, imaging procedures, and histological data were gathered from the patients' medical charts.

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Objectives: Hepatitis B virus (HBV) is a noncytopathic virus, and hepatocellular injury is mediated by a defective host antiviral immune response. We have previously shown that antiviral immunity can be modulated through oral feeding of viral proteins. The aims of this study were to determine the safety and efficacy of treatment of patients with chronic HBV by means of p.

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