Smokers' reports on receiving a doctor's advice to quit smoking; receiving the advice is more prevalent among smokers with Crohn's Disease relative to smokers with Ulcerative Colitis.

Receiving a doctor's advice to quit smoking is an important predictor for improving smokers' intentions to quit smoking and successful smoking cessation. We examined reports of smokers with Crohn's Disease (CD) and Ulcerative Colitis (UC) regarding receiving a doctor's advice to quit smoking in the past 12 months, and evaluated the differences in the rates of receiving the advice between the CD and UC patients. The data were retrospectively reported by CD and UC patients (n = 453) who self-identified as current smokers in online assessments conducted by IBD Partners in the period from 2011 to 2014 in the USA. Statistical methods included chi-square tests and a multiple logistic regression model for the logit of the probability of receiving the advice as a function of patient's characteristics and assessment year. Overall, about 77% of smokers reported receiving a doctor's advice to quit smoking. The percentage was significantly (p < 0.001) higher among smokers with CD (80%) than it was among smokers with UC (63%). While the specific differences by CD/UC depended on smoking initiation age, the overall effect of disease type on the odds of receiving the advice remained significant: the odds of receiving the advice were higher for smokers with CD relative to smokers with UC (OR = 3.6, p < 0.001). Although the majority of CD and UC patients report receiving a doctor's advice to quit smoking, the encountered difference associated with the disease type is concerning. Because long-term smoking increases cancer and mortality risks, doctors should address smoking cessation with all patients who smoke.

The Impact of a Gluten-Free Diet on Celiac Disease: A Comprehensive Evaluation of Two Cases Using NIH Patient Reported Outcome Measures (PROMIS, NTCB, and Neuro-QoL).

The aim of this study is to demonstrate the effectiveness of the gluten-free diet (GFD) for celiac disease (CD) in a multidisciplinary outpatient Gastroenterology clinic with two adult cases using the innovative, paradigm-shifting measurement systems: The NIH Patient reported outcome measures (PROs). CD results in gastrointestinal (GI) dysfunction, but is also associated with other inflammatory responses, psychosocial impairment, and cognitive deficits such as "brain fog." Adherence to the GFD for 6 months was associated with improvement in specific GI symptoms in one case (PROMIS-GI; Case 2) and improvement in cognitive functioning (NIH Toolbox Cognitive Battery) and psychosocial functioning (Neuro-QOL) in both cases. Notably, improvement in cognitive flexibility occurred in both younger and an older adult patient. This suggests that cognitive decline and the psychosocial deficits associated with CD are reversible with GFD. The NIH PROs were found to be effective, sensitive to change, and minimally disruptive to clinic operations.

Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations.

OBJECTIVES: We sought to characterize a new category of autoinflammatory disease associated with nucleotide-binding oligomerization domain 2 (NOD2) gene mutations. METHODS: A total of 22 patients were identified, inclusive of those reported previously. All had autoinflammatory phenotypes and NOD2 gene mutations that were prospectively studied between January 2009 and February 2012. RESULTS: All 22 patients were non-Jewish whites (13 women and 9 men). The mean age at diagnosis was 40.1 years (range 17-72), with a mean disease duration of 4.7 years (range 1-13). Three female patients were siblings. Common clinical features were weight loss (13/22), episodic self-limiting fever (13/22), dermatitis (19/22), and inflammatory polyarthritis/polyarthralgia (20/22). Gastrointestinal symptoms occurred in 13 patients, sicca-like symptoms in 9, and recurrent chest pain in 5. All patients carried the NOD2 gene mutations, with the intervening sequence 8(+158) variant in 21 and the R702W variant in 8. LIMITATIONS: The NOD2 allelic frequency may need to be examined in a larger population with systemic autoimmune diseases. CONCLUSIONS: The characteristic clinical phenotype, notably dermatitis, coupled with certain NOD2 variants constitutes a new autoinflammatory disease entity, which we have named as NOD2-associated autoinflammatory disease.

A new category of autoinflammatory disease associated with NOD2 gene mutations.

INTRODUCTION: Autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high titers of autoantibodies or antigen-specific T cells, and derive from genetic variants of the innate immune system. This study characterized a cohort of patients with similar phenotypes and nucleotide oligomerization domain 2 (NOD2) gene mutations. METHODS: Diagnostically challenging patients with the following clinical and genetic characteristics were prospectively studied between January 2009 and April 2011: periodic fever, dermatitis, polyarthritis, serositis, negative serum autoantibodies and additional positive NOD2 IVS8+158 gene mutation. Genetic testing for gene mutations of NOD2, tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS) and familial Mediterranean fever (FMF) was performed. RESULTS: All seven patients with the disease were Caucasians, with four being male. The mean age at disease onset was 40.7 years and disease duration was 3.2 years. These patients characteristically presented with periodic fever, dermatitis and inflammatory polyarthritis. There were gastrointestinal symptoms in three patients, granulomas of the skin and gut in two, and recurrent chest pain in two, with one having pleuritis and pericarditis. Three patients had sicca-like symptoms. Five patients had increased acute phase reactants. All seven patients had negative tests for autoantibodies but carried the NOD2 gene mutation IVS8+158 with four having concurrent R702W mutation. CONCLUSIONS: Our cohort may represent a new disease category of autoinflammatory disease with characteristic clinical phenotypes and genotypes. It may somewhat resemble pediatric Blau's syndrome.