Accurate diagnosis of Helicobacter pylori. 14C-urea breath test

The 14C-urea breath test is an accurate means of identifying the presence of H. pylori infection before and after antimicrobial therapy. Several issues, including out of office analysis, the need for a support structure to perform the test, concerns regarding radiation exposure, and inconsistent reimbursement, have slowed the widespread acceptance of the 14C-urea breath test in clinical practice. Despite these problems, the 14C-urea breath test is simple, rapid, and relatively inexpensive compared with the currently available version of the 13C-urea breath test. As such, the 14C-urea breath test provides an attractive, nonendoscopic means of identifying active H. pylori infection.     

EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome

Overgrowth‐intellectual disability (OGID) syndromes are characterized by increased growth (height and/or head circumference ≥+2 SD) in association with an intellectual disability. Constitutive EED variants have previously been reported in five individuals with an OGID syndrome, eponymously designated Cohen‐Gibson syndrome and resembling Weaver syndrome. Here, we report three additional individuals with constitutive EED variants, identified through exome sequencing of an OGID patient series. We compare the EED phenotype with that of Weaver syndrome (56 individuals), caused by constitutive EZH2 variants. We conclude that while there is considerable overlap between the EED and EZH2 phenotypes with both characteristically associated with increased growth and an intellectual disability, individuals with EED variants more frequently have cardiac problems and cervical spine abnormalities, boys have cryptorchidism and the facial gestalts can usually be distinguished.     

Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability,macrocephaly, and obesity: A series of 17 patients

BRWD3 has been described as a cause of X‐linked intellectual disability, but relatively little is known about the specific phenotype. We report the largest BRWD3 patient series to date, comprising 17 males with 12 distinct null variants and 2 partial gene deletions. All patients presented with intellectual disability, which was classified as moderate (65%) or mild (35%). Behavioral issues were present in 75% of patients, including aggressive behavior, attention deficit/hyperactivity and/or autistic spectrum disorders. Mean head circumference was +2.8 SD (2.8 standard deviations above the mean), and mean BMI was +2.0 SD (in the context of a mean height of +1.3 SD), indicating a predominant macrocephaly/obesity phenotype. Shared facial features included a tall chin, prognathism, broad forehead, and prominent supraorbital ridge. Additional features, reported in a minority (<30%) of patients included cryptorchidism, neonatal hypotonia, and small joint hypermobility. This study delineates the clinical features associated with BRWD3 null variants and partial gene deletions, and suggests that BRWD3 should be included in the differential diagnosis of patients with an overgrowth‐intellectual disability (OGID) phenotype, particularly in male patients with a mild or moderate intellectual disability associated with macrocephaly and/or obesity.     

Abnormal immune regulation and low-grade inflammation in IBS: does one size fit all?

Evidences suggest that there is low-grade inflammation in the colonic mucosa and/or a state of immune activation in patients with irritable bowel syndrome (IBS). Results from available studies are inconsistent mainly because of differences in measures, methodologies and study populations. In this issue, Chang et al. evaluated a comprehensive set of cytokines, immune markers and immune-related cells in patients with non post infectious IBS (non PI-IBS) and controls. The main finding was a lower expression of the mRNA of the anti-inflammatory IL-10 cytokine in the colonic mucosa of women with non PI-IBS without any differences in the cell counts. These results suggest that in non PI-IBS, there is altered immune regulation/activation without evidence of low-grade mucosal inflammation. Further, PI and non PI-IBS may be associated with different alterations in immune function/activation.     

Psychosocial factors related to diet among women with recent gestational diabetes: opportunities for intervention

PURPOSE: This study investigated postpartum dietary behaviors among women with recent gestational diabetes mellitus (GDM), the cognitive and social factors related to these, and preferred types of lifestyle support, in order improve the development of diabetes prevention strategies for this group. METHODS: Participants were a random sample of 226 women diagnosed with GDM in the prior 6 to 24 months. Telephone surveys were used to evaluate dietary behaviors, self-efficacy, social support, perceived barriers to healthy eating, and preferred methods of lifestyle support. RESULTS: Only 5% of the respondents consumed 5 servings/day of vegetables and 44% consumed 2 or more servings/day of fruit. Fried food was eaten at least twice per week by 26% of women and 50% usually consumed full-fat milk. Higher vegetable consumption was associated with self-efficacy to cook healthy foods, reporting that a healthy diet is not a difficult change and that dislike of healthy foods by other household members is not a barrier. Fruit consumption was positively related to self-efficacy when busy and when not reporting a dislike of healthy foods by others at home. Advice from a dietitian and telephone support from a health educator were the most preferred forms of health assistance. CONCLUSIONS: Dietary risks factors are prevalent among women with recent GDM. Confidence and skills in cooking healthy foods, along with family food preferences and time pressures, are important influences on eating habits. Dietary change programs, informed by the beliefs and circumstances of this high-risk population, need to be developed.     

Infliximab for patients with refractory ulcerative colitis

Conventional treatment options for patients with severe corticosteroid-refractory ulcerative colitis (UC) include intravenous cyclosporine, which is frequently limited by toxicity, or colectomy. The efficacy of infliximab was investigated in the treatment of 16 patients with severely active UC refractory to conventional therapy; 7 of these patients were considered for colectomy pending medical failure. All patients received a single infusion of infliximab, 5 mg/kg; 6 of 16 patients (38%) received a second infusion approximately 5 months later. Efficacy was assessed by clinical response (defined as the lack of symptoms) as well as endoscopic and histologic outcomes. Clinical, endoscopic, and histologic improvement was observed in 14 of 16 patients (88%) after treatment with infliximab. Surgery was avoided in six of seven surgical candidates (86%). Clinical remission was maintained in 14 of 16 patients (88%) for > or = 4 months, and 4 of 16 patients (25%) for 7-10 months. Most of the treated patients were completely withdrawn from corticosteroid therapy. Treatment with infliximab induced endoscopic remission at 30 days and a significant improvement from baseline in mean histologic score (p < 0.001). In conclusion, infliximab improved clinical, endoscopic, and histologic outcomes in patients with severely active UC refractory to conventional therapy, allowing corticosteroid sparing and reducing the need for colectomy.     

Food: the forgotten factor in the irritable bowel syndrome

After years of inattention, there is a growing body of evidence to suggest that dietary constituents at least exacerbate symptoms and perhaps contribute to the pathogenesis of the irritable bowel syndrome (IBS). Although patients with IBS self-report food allergies more often than the general population, the evidence suggests that true food allergies are relatively uncommon. Less clearly defined food intolerances may be an important contributor to symptoms in IBS patients. This article reviews the literature supporting a causal link between food and the symptoms of IBS as well as the evidence supporting dietary interventions as a means of managing IBS symptoms.     

Acute pancreatitis after transcatheter arterial chemoembolization for liver metastases of carcinoid tumors

Acute pancreatitis is a rare side effect of non-selective transcatheter arterial chemoembolization (TACE) of hepatocellular carcinoma with an incidence ranging from 2% (clinical pancreatitis) to 40% (biological pancreatitis). This complication, due to embolization of extrahepatic arterial collaterals, has never been reported for treatment of well-differentiated endocrine carcinoma. We report here a case of acute clinical pancreatitis developing within 24 hours after a first selective TACE into the proper hepatic artery, with two peaks of hyperlypasemia, and intend to discuss its mechanism. Since it may clinically mimic a postembolization syndrome, dosage of serum pancreatic enzymes should be performed systematically in case of abdominal pain following TACE.