Hemophilia is an inherited X-linked bleeding disorder characterized by deficiencies of factors VIII or IX. Concomitant X chromosome disorders can impact bleeding phenotype, complicating timely diagnosis and disease management. Herein, we describe three cases of female and male pediatric patients with hemophilia A or B diagnosed between 6 days and 4 years old in the setting of skewed X chromosome inactivation, Turner syndrome, or Klinefelter syndrome.
View Article and Find Full Text PDFCurr Gastroenterol Rep
April 2023
Purpose Of Review: To provide an updated overview on use of electrostimulation in gastrointestinal motility disorders and obesity, with a focus on gastric electrical stimulation, vagal nerve stimulation and sacral nerve stimulation.
Recent Findings: Recent studies on gastric electrical stimulation for chronic vomiting showed a decrease in frequency of vomiting, but without significant improvement in quality of life. Percutaneous vagal nerve stimulation shows some promise for both symptoms of gastroparesis and IBS.
Background And Aim: Methane levels in methane-positive lactulose breath tests are frequently elevated at time zero. We hypothesized that baseline methane level is sufficient to detect excessive methane production and thereby avoid extended testing. Our aim was to determine if baseline methane levels were sufficient to identify methane-positive individuals as defined by current guidelines.
View Article and Find Full Text PDFBackground: Laparoscopic sleeve gastrectomy (LSG) has recently been considered for the surgical management of refractory gastroparesis. Our study aims to determine the efficacy of LSG as a new treatment modality for gastroparesis.
Methods: A multi-surgeon single institution retrospective chart review of patients who underwent LSG for refractory gastroparesis from September 2016-December 2017.
Background: Defining factors associated with severe reflux esophagitis allows for identification of subgroups most at risk for complications of strictures and esophageal malignancy. We hypothesized there might be unique clinical features in patients with reflux esophagitis in a predominantly Hispanic population of a large, safety-net hospital.
Aim: Define clinical and endoscopic features of reflux esophagitis in a predominantly Hispanic population of a large, safety-net hospital.
Background/objectives: To ascertain the effect on body weight of 14 days of bolus enteral feeding with mixed meal (MM) and electrolyte solution (ES) in ambulatory adults with type 2 diabetes and obesity, and also the safety and feasibility of using a modified, intraorally anchored enteral feeding tube for this purpose.
Subjects/methods: We conducted a randomized, crossover pilot trial with 16 participants. A 140 cm, 8-French feeding tube was placed in the jejunum under electromagnetic guidance and anchored intraorally.
Advances in microbiome research are spurring the development of new therapeutics for a variety of diseases, but translational challenges remain.
View Article and Find Full Text PDFObesity, diabetes, and related manifestations are associated with an enhanced, but poorly understood, risk for mucosal infection and systemic inflammation. Here, we show in mouse models of obesity and diabetes that hyperglycemia drives intestinal barrier permeability, through GLUT2-dependent transcriptional reprogramming of intestinal epithelial cells and alteration of tight and adherence junction integrity. Consequently, hyperglycemia-mediated barrier disruption leads to systemic influx of microbial products and enhanced dissemination of enteric infection.
View Article and Find Full Text PDFStandard tests in clinical practice commonly fail to demonstrate a clear esophageal etiology for symptoms such as heartburn, dysphagia, or chest pain. Over the years, various provocative measures have been developed to provide a better understanding of the origins of such symptoms. Some measures, such as esophageal acid infusion or changing bolus consistency, can be easily incorporated into clinical practice.
View Article and Find Full Text PDFAim: To evaluate the efficacy of lower esophageal sphincter (LES)-electrical stimulation therapy (EST) in a subgroup of patients that reported only partial response to proton pump inhibitors (PPIs) therapy, compared to a group of patient with complete response.
Methods: Bipolar stitch electrodes were laparoscopically placed in the LES and connected to an implantable pulse generator (EndoStim BV, the Hague, the Netherlands), placed subcutaneously in the anterior abdominal wall. Stimulation at 20 Hz, 215 μsec, 3-8 mAmp in 30 min sessions was delivered starting on day 1 post-implant.
Clin Exp Gastroenterol
February 2016
Patients with gastroesophageal reflux disease (GERD) who are not satisfied with acid suppression therapy can benefit primarily from fundoplication, a surgical intervention. Fundoplication has been the standard surgical procedure for GERD. It is effective but is associated with adverse effects, resulting in a declining number of interventions, creating a need for alternative interventions that are effective, yet have a better adverse effect profile.
View Article and Find Full Text PDFBackground: Electrical stimulation of the lower esophageal sphincter (LES) has been shown to improve outcomes in patients with gastroesophageal reflux disease (GERD) at 2 years. The aim of the study was to evaluate the safety and efficacy of LES stimulation in the same cohort at 3 years.
Methods: GERD patients with partial response to PPI, with % 24-h esophageal pH < 4.
Clin Transl Gastroenterol
August 2015
Objectives: Elimination diets have been used for many years to treat irritable bowel syndrome (IBS). These approaches had fallen out of favor until a recent resurgence, which was based on new randomized controlled trial (RCT) data that suggested it might be effective. The evidence for the efficacy of dietary therapies has not been evaluated systematically.
View Article and Find Full Text PDFObjective: Research shows that mindfulness meditation (MM) affects pain perception; however, studies have yet to measure patterns of change over time. We examined effects of MM on perception of experimental heat pain using multiple psychophysical indices, including pattern of change in response to tonic painful stimuli. We also tested the potential moderating role of baseline mindfulness.
View Article and Find Full Text PDFExpert Rev Gastroenterol Hepatol
July 2015
There are limited options to patients with gastroesophageal reflux disease (GERD) who are not satisfied with acid suppression therapy. Fundoplication, the standard surgical procedure for GERD, is effective but is associated with adverse side effects and has thus been performed less frequently, creating a need for alternative surgical interventions that are effective, yet less invasive and reversible. Lately, two such interventions were developed: the magnetic sphincter augmentation and electrical stimulation of the lower esophageal sphincter.
View Article and Find Full Text PDFBackground: Lower esophageal sphincter (LES) electrical stimulation therapy (EST) has been shown to improve outcome in gastroesophageal reflux disease (GERD) patients at 1 year. The aim of this open-label extension trial (NCT01578642) was to study the 2-year safety and efficacy of LES-EST in GERD patients.
Methods: GERD patients responsive partially to proton pump inhibitors (PPI) with off-PPI GERD health-related quality of life (HRQL) of ≥20, 24-hour esophageal pH ≤4.
Obesity is a growing health problem worldwide with a major impact on health and healthcare expenditures. Medical therapy in the form of diet and pharmacotherapy has limited effect on weight. Standard bariatric surgery is effective but is associated with morbidity and mortality, creating an unmet need for alternative therapies.
View Article and Find Full Text PDFAlthough bone substitutes associated with platelet concentrates are widely used to vertically reconstruct alveolar ridges, their respective and specific contribution remain controversial. The aim of this study was to evaluate the benefit of using either biphasic calcium phosphate (BCP) or demineralised bovine bone mineral (DBBM) alone or with autologous platelet lysate (APL) in vertical bone regeneration. The study involved fourteen New Zealand rabbits.
View Article and Find Full Text PDFDental implants are widely used for oral rehabilitation. However, there remain risks of failure which are difficult to anticipate and depend on the implant osseointegration. The objective of this in vivo study is to determine the variation of the echographic ultrasonic response of a dental implant to bone healing around the implant interface.
View Article and Find Full Text PDFObjectives: Fiber has been used for many years to treat irritable bowel syndrome (IBS). This approach had fallen out of favor until a recent resurgence, which was based on new randomized controlled trial (RCT) data that suggested it might be effective. We have previously conducted a systematic review of fiber in IBS, but new RCT data for fiber therapy necessitate a new analysis; thus, we have conducted a systematic review of this intervention.
View Article and Find Full Text PDFObjectives: Irritable bowel syndrome (IBS) and chronic idiopathic constipation (CIC) are functional bowel disorders. Evidence suggests that disturbance in the gastrointestinal microbiota may be implicated in both conditions. We performed a systematic review and meta-analysis to examine the efficacy of prebiotics, probiotics, and synbiotics in IBS and CIC.
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