1,720,960 research outputs found
The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review
No full textBackground and Aims: Inflammatory bowel disease (IBD) is a typical polygenic disorder and less frequently shows a monogenic origin. Furthermore, IBD can originate in the context of specific genetic syndromes associated with a risk of autoimmune disorders. We aimed to systematically evaluate the prevalence of IBD in specific genetic syndromes and to review the clinical characteristics of the published cases. Methods: According to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, studies describing patients with IBD and a genetic syndrome and/or studies indicating the prevalence or incidence of IBD in subjects with a genetic syndrome were included. Results: Forty-six studies describing a total of 67 cases of IBD in six genetic syndromes and two personally assessed unpublished cases were included in the review. The majority of cases were associated with Turner syndrome (TS) (38 cases), Down syndrome (DS) (18 cases) and neurofibromatosis type 1 (NF1) (8 cases). Sporadic cases were described in DiGeorge syndrome (2), Kabuki syndrome (2), and Williams syndrome (1). The prevalence of IBD ranged from 0.67 to 4% in TS and from 0.2 to 1.57% in DS. The incidence of IBD was increased in TS and DS compared to the general population. Eight cases of IBD in TS had a severe/lethal course, many of which described before the year 2000. Two IBD cases in DS were particularly severe. Conclusion: Evidence of a greater prevalence of IBD is accumulating in TS, DS, and NF1. Management of IBD in patients with these genetic conditions should consider the presence of comorbidities and possible drug toxicities. Systematic Review Registration: PROSPERO, identifier: CRD42021249820
The puzzling relationship between human leukocyte antigen HLA genes and celiac disease
Full text linkThe human leukocyte antigen (HLA) system, i.e., the major histocompatibility complex (MHC) in humans, plays a pivotal role in the antigen presentation of intracellular and extracellular peptides and the regulation of innate and adaptive immune responses
Slow Decrease of Antitissue Transglutaminase Antibody Positivity in Children With Celiac Disease After Starting the Gluten-free Diet
Full text linkA negative fallout of COVID-19 lockdown in Italy: Life-threatening delay in the diagnosis of celiac disease
No full textContribution of Oral Hygiene and Cosmetics on Contamination of Gluten-free Diet: Do Celiac Customers Need to Worry About?
No full textOBJECTIVES: The only available treatment for celiac disease (CD) is the gluten-free diet. It is unclear whether the presence of gluten in oral hygiene products and cosmetics that are applied on the mouth is a reason of concern for CD patients. The aim of this study was to test the level of gluten contamination in oral hygiene and cosmetic products available in the Italian market. METHODS: A total of 66 products (toothpastes = 37; dental tablets = 2; mouthwashes = 5; lip-balms = 10; lipsticks = 12) labelled gluten-free or with unknown gluten content were randomly collected from different supermarkets and pharmacies. The gluten quantification was determined by the R5 ELISA method approved by EU regulations. RESULTS: Out of 66 oral hygiene and cosmetics, 62 products (94%) were found to be gluten-free (gluten level <20 ppm), while 4 (6%) (toothpastes = 3; lipsticks = 1) showed a gluten level >20 ppm (toothpastes: 20.7, 31.4, and 35 ppm; lipstick: 27.4 ppm). None of the selected products had ingredient derived from wheat, barley, or rye. CONCLUSIONS: Gluten contamination is currently not an issue in a wide array of cosmetic and oral hygiene products that are commonly in the market
Lower Level of Plasma 25-Hydroxyvitamin D in Children at Diagnosis of Celiac Disease Compared with Healthy Subjects: A Case-Control Study
No full textObjective: To evaluate the vitamin D status of children with a new diagnosis of celiac disease compared with healthy controls. Study design: This was a case-control study. Cases were consecutive children with newly diagnosed celiac disease. Controls were healthy children matched for age, sex, ethnicity, and month of blood testing. Plasma 25-hydroxyvitamin D (25-OHD) was measured as the index of vitamin D nutritional status. The Student t test was used for comparisons. Differences in frequencies were evaluated with the χ2 test. Associations between variables were estimated by calculating Pearson correlation coefficients. Results: There were 131 children with celiac disease enrolled (62% females; mean age 8.1 ± 1.1 years). The control group included 131 healthy children (62% females; mean age 8.2 ± 1.2). All were of European origin. Plasma 25-OHD levels were significantly lower in patients than in controls (25.3 ± 8.0 and 31.6 ± 13.7 ng/mL; P <.0001). The percentage of children with vitamin D deficiency (<20 ng/mL) was significantly higher in children with celiac diseaseas compared with controls (31% vs 12%; P <.0001). The concentration of 25-OHD was significantly lower in patients than in controls during summer (P <.01) and autumn (P <.0001). Conclusions: In this case-control study, at diagnosis, children with celiac disease showed lower levels of plasma 25-OHD compared with healthy subjects. Vitamin D status should be checked at diagnosis of celiac disease, particularly during summer and fall months
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
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