Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy.

Background And Purpose: The aim was to assess the value of insoluble PABPN1 muscle fibre nuclei accumulation in the diagnosis of atypical cases of oculopharyngeal muscular dystrophy (OPMD).

Methods: Muscle biopsies from a selected cohort of 423 adult patients from several Italian neuromuscular centres were analysed by immunofluorescence: 30 muscle biopsies of genetically proven OPMD, 30 biopsies from patients not affected by neuromuscular disorders, 220 from genetically undiagnosed patients presenting ptosis or swallowing disturbances, progressive lower proximal weakness and/or isolated rimmed vacuoles at muscle biopsy and 143 muscle biopsies of patients affected by other neuromuscular diseases.

Results: The detection of insoluble nuclear PABPN1 accumulation is rapid, sensitive (100%) and specific (96%).

Methods for diagnosing bile acid malabsorption: a systematic review.

Background: Bile acid malabsorption (BAM) and bile acid-related diarrhea represent an under-recognized cause of chronic diarrhea mainly because of limited guidance on appropriate diagnostic and laboratory tests. We aimed to perform a systematic review of the literature in order to identify and compare the diagnostic accuracy of different diagnostic methods for patients with BAM, despite a proven gold standard test is still lacking.

Methods: A PubMed literature review and a manual search were carried out.

Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD).

Primary aim was to investigate the diagnostic value of PAS-positive vacuolated lymphocytes on blood smear in Late Onset Pompe Disease (LOPD) patients and, secondly, to evaluate its potential utility in monitoring treatment effects. We examined blood smear of 26 LOPD patients. We evaluated 10 treated and 16 untreated LOPD patients.

Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis.

Background And Purpose: Late-onset Pompe disease (LOPD) is a rare, multisystem disorder that is well established to mainly impair skeletal muscle function. Systematic studies exploring brain functions in LOPD are lacking. The aim of this study was to detect morphological and functional brain alterations as well as neuropsychological impairment in LOPD.

Duodenal and Rectal Mucosa Inflammation in Patients With Non-celiac Wheat Sensitivity.

Background & Aims: Studies of non-celiac gluten or wheat sensitivity (NCGWS) have increased but there are no biomarkers of this disorder. We aimed to evaluate histologic features of colon and rectal tissues from patients with NCGWS.

Methods: We performed a prospective study of 78 patients (66 female; mean age, 36.

Diagnostic Yield of 2 Strategies for Adult Celiac Disease Identification in Primary Care.

Goals: To compare the diagnostic yield and cost-consequences of 2 strategies, screening regardless of symptoms versus case finding (CF), using a point-of-care test (POCT), for the detection of celiac disease (CD) in primary care, to bridge the diagnostic gap of CD in adults.

Materials And Methods: All subjects under 75 years of age who consecutively went to their general practitioners' offices were offered POCT for anti-transglutaminase immunoglobulin A antibodies. The POCT was performed on all subjects who agreed, and then a systematic search for symptoms or conditions associated with higher risk for CD was performed, immediately after the test but before knowing the test results.

Factors associated with circulating concentrations of irisin in the general population cohort of the ABCD study.

Objective: Animal studies have shown that irisin is a myokine secreted following physical exercise, and that it induces the remodeling of white adipose tissue toward brown adipose tissue. Therefore, a protective role of irisin against obesity, diabetes, and other metabolic and cardiovascular conditions has been hypothesized. However, data in humans are contradictory and few data are available concerning the general population.

Association of obesity and diabetes with thyroid nodules.

Aim: There are conflicting data concerning the possibility that obesity and diabetes raise the risk of thyroid nodules. The incidence of thyroid nodules is increasing, as is that of obesity and diabetes; therefore, understanding whether these metabolic and nutritional disorders influence nodular thyroid disease is important for organizing prevention strategies. This study investigated the association between thyroid nodules, obesity, diabetes, and dietary habits.

Characterization of circadian COPD symptoms by phenotype: Methodology of the STORICO observational study.

Chronic obstructive pulmonary disease (COPD) is one of the leading causes of morbidity and mortality worldwide. The symptoms of COPD are troublesome, variable, can occur during all parts of the 24-h day and have a substantial impact on patients' health status, quality of life and healthcare resource utilization. Reducing symptoms, improving health status and increasing physical activity are major goals in the management of stable COPD.

Physical activity and cardiovascular prevention: Is healthy urban living a possible reality or utopia?

Favoring correct lifestyles is the most important measure to contrast cardiovascular diseases and the epidemic of high cardiovascular risk conditions, such as obesity, diabetes, and hypertension. Lifestyle is a broad expression that includes diet, physical exercise, and psychological and socio-economic factors, each of which must be taken into due consideration because of their intertwining influences, which may be a barrier to healthy changes at both the individual and population levels. While physical activity has probably received less attention in the last decades, it is likely the most important among the modifiable risk factors for cardiovascular diseases.

High Proportions of People With Nonceliac Wheat Sensitivity Have Autoimmune Disease or Antinuclear Antibodies.

Background & Aims: There is much interest in wheat sensitivity among people without celiac disease (CD), but little is known about any risks associated with the condition. We evaluated the prevalence of autoimmune diseases (ADs) among patients with nonceliac wheat sensitivity (NCWS), and investigated whether they carry antinuclear antibodies (ANA).

Methods: We performed a retrospective study of 131 patients diagnosed with NCWS (121 female; mean age, 29.

Effects of exercise training on airway closure in asthmatics.

We previously reported that responsiveness to methacholine (Mch) in the absence of deep inspiration (DI) decreased in healthy subjects after a short course of exercise training. We assessed whether a similar beneficial effect of exercise on airway responsiveness could occur in asthmatics. Nine patients (male/female: 3/6; mean age ± SD: 24 ± 2 yr) with mild untreated asthma [forced expiratory volume in 1 s (FEV(1)): 100 ± 7.