scholarly journals The Role of HLA in the Association between IgA Deficiency and Celiac Disease

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Dimitri Poddighe ◽  
Cristina Capittini
Keyword(s):  
Celiac Disease ◽  
Iga Deficiency ◽  
Allelic Variants ◽  
Selective Iga Deficiency ◽  
Immune Defect ◽  
Diagnostic Work ◽  
Hla Haplotypes ◽  
Work Up ◽  
Immunological Alterations

Selective IgA deficiency (SIgAD) is the most frequent primary immune defect. Since SIgAD is not characterized by relevant infectious issues in most cases, it is often diagnosed during the diagnostic work up of several and different autoimmune disorders, which are associated with this primary immune defect. The genetic background of SIgAD is complex and three HLA haplotypes resulted to be more frequently associated with it; in detail, two of them include HLA-DQB 1 ∗ 02 allelic variants, which are essential predisposing factors to develop Celiac Disease (CD). Here, we discuss the evidence regarding the role of HLA in the etiopathogenesis of SIgAD and its association with CD. Actually, the HLA region seems to play a modest role in the genetic predisposition to SIgAD and we may speculate that the association with the HLA-DQB 1 ∗ 02 alleles (or haplotypes including them) could derive from its link with CD. Indeed, SIgAD and some related immunological alterations are likely to predispose to several autoimmune diseases (with and despite different HLA backgrounds), including CD, which is relatively common and directly associated with the HLA-DQB 1 ∗ 02 allelic variants coding the DQ2 heterodimer. Further and specific studies are needed to make final conclusions in this regard.

scholarly journals General practitioner use of D-dimer in suspected venous thromboembolism: historical cohort study in one geographical region in the Netherlands

BMJ Open ◽  
2019 ◽  
Vol 9 (5) ◽  
pp. e026846 ◽  
Author(s):  
Angel M R Schols ◽  
Eline Meijs ◽  
Geert-Jan Dinant ◽  
Henri E J H Stoffers ◽  
Mariëlle M E Krekels ◽  
...  
Keyword(s):  
Cohort Study ◽  
General Practitioner ◽  
Clinical Assessment ◽  
Geographical Region ◽  
Historical Cohort ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up ◽  
D Dimer

ObjectivesTo investigate how many general practitioner (GP)-referred venous thromboembolic events (VTEs) are diagnosed during 1 year in one geographical region and to investigate the (urgent) referral pathway of VTE diagnoses, including the role of laboratory D-dimer testing.DesignHistorical cohort study.SettingGP patients of 47 general practices in a demarcated geographical region of 161 503 inhabitants in the Netherlands.ParticipantsWe analysed all 895 primary care patients in whom either the GP determined a D-dimer value or who had a diagnostic work-up for suspected VTE in a non-academic hospital during 2015.Primary and secondary outcome measuresThe primary outcomes of this study were the total number of VTEs per year and the diagnostic pathways—including the role of GP determined D-dimer testing—of patients urgently referred to secondary care for suspected VTE. Additionally, we explored the use of an age-adjusted D-dimer cut-off.ResultsThe annual VTE incidence was 0.9 per 1000 inhabitants. GPs annually ordered 5.1 D-dimer tests per 1000 inhabitants. Of 470 urgently GP-referred patients, 31.3% had a VTE. Of those urgently referred based on clinical assessment only (without D-dimer testing), 73.8% (96/130) had a VTE; based on clinical assessment and laboratory D-dimer testing yielded 15.0% (51/340) VTE. Applying age-adjusted D-dimer cut-offs to all patients aged 50 years or older resulted in a reduction of positive D-dimer results from 97.9% to 79.4%, without missing any VTE.ConclusionsAlthough D-dimer testing contributes to the diagnostic work-up of VTE, GPs have a high detection rate for VTE in patients who they urgently refer to secondary care based on clinical assessment only.

Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency

2007 ◽  
Vol 39 (4) ◽  
pp. 430-431 ◽  
Author(s):  
Emanuela Castigli ◽  
Stephen Wilson ◽  
Lilit Garibyan ◽  
Rima Rachid ◽  
Francisco Bonilla ◽  
...  
Keyword(s):  
Common Variable Immunodeficiency ◽  
Iga Deficiency ◽  
Selective Iga Deficiency ◽  
Coding Variants ◽  
Common Variable

scholarly journals Endomyocardial Biopsy in Pediatric Myocarditis and Dilated Cardiomyopathy: A Tool in Search for a Role

2022 ◽  
Vol 9 (1) ◽  
pp. 24
Author(s):  
Mara Pilati ◽  
Micol Rebonato ◽  
Roberto Formigari ◽  
Gianfranco Butera
Keyword(s):  
Endomyocardial Biopsy ◽  
Ventricular Dysfunction ◽  
Diagnostic Technique ◽  
Left Ventricular ◽  
Severe Left Ventricular Dysfunction ◽  
Myocardial Diseases ◽  
Pediatric Heart Failure ◽  
Diagnostic Work ◽  
Work Up

Endomyocardial biopsy (EMB) is a well-known diagnostic tool for the investigation and treatment of myocardial diseases and remains the gold standard for the diagnosis of myocarditis. Due to its invasiveness, with a complication rate ranging from 1 to 15%, its role in the diagnostic work-up of pediatric heart failure is not well established. The aim of this review is to define the role of EMB as diagnostic technique in the work up of children presenting with severe left ventricular dysfunction with the support of our center experience.

Acute liver failure

2020 ◽  
pp. 89-104
Author(s):  
Andrew Jones ◽  
Akash Deep
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Organ Support ◽  
Fulminant Liver Failure ◽  
Management Of Complications ◽  
Diagnostic Work ◽  
Work Up ◽  
Paediatric Critical Care ◽  
Diagnostic Work Up

The work-up and management of patients with acute liver failure in paediatric critical care are often challenging. This chapter takes the readers through definitions, grading of severity, and diagnostic work-up of acute liver failure in children. General principles underlying the management of acute liver failure, including immediate resuscitation and retrieval; organ support, including renal replacement therapy; and the management of complications, including bleeding, are discussed. In particular, this chapter focuses on neuromonitoring and neuroprotection strategies in children with hepatic encephalopathy as a complication. The role of liver transplantation in fulminant liver failure and a brief overview of complications are also discussed.

scholarly journals The Challenge of Treatment in Potential Celiac Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Chiara Maria Trovato ◽  
Monica Montuori ◽  
Francesco Valitutti ◽  
Beatrice Leter ◽  
Salvatore Cucchiara ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Immunoglobulin A ◽  
Intraepithelial Lymphocytes ◽  
Gluten Free Diet ◽  
Small Intestinal Mucosa ◽  
Gluten Free ◽  
Main Challenge ◽  
Genetic Features ◽  
Diagnostic Work ◽  
Work Up

Potential celiac disease (PCD) is defined by the presence of positive serum antibodies, HLA-DQ2/DQ8 haplotypes, and a normal small intestinal mucosa (Marsh grade 0-1). This condition occurs in one-fifth of celiac disease (CD) patients and usually represents a clinical challenge. We reviewed genetic, histologic, and clinical features of this specific condition by performing a systematic search on MEDLINE, Embase, and Scholar database. Accordingly, we identified different genetic features in patients with PCD compared to the classical forms. Frequently, signs of inflammation (deposits of immunoglobulin A (IgA) and/or increased number of intraepithelial lymphocytes) can be clearly identify in the mucosa of PCD patients after an accurate histological assessment. Finally, the main challenge is represented by the treatment: the gluten-free diet should be considered only in the presence of gluten-dependent symptoms in both children and adults. What is known: (i) potential celiac disease (PCD) occurs in one-fifth of all celiac diseases (CD), and (ii) despite the absence of classical lesions, clear signs of inflammation are often detectable. What is new: (i) patients with PCD show different genetic features, and (ii) the presence of gluten-dependent symptoms is the main determinant to initiate the gluten-free diet, after a complete diagnostic work-up.

scholarly journals Is There a Role of Using a Rapid Finger Prick Antibody Test in Screening for Celiac Disease in Children?

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Kristina Baraba Dekanić ◽  
Ivona Butorac Ahel ◽  
Lucija Ružman ◽  
Jasmina Dolinšek ◽  
Jernej Dolinšek ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Point Of Care ◽  
Tissue Transglutaminase ◽  
Rapid Test ◽  
Antibody Test ◽  
First Grade ◽  
Iga Deficiency ◽  
Iga Antibodies ◽  
Point Of Care Tests

Introduction. Celiac disease (CD) is an autoimmune disease triggered by gluten in genetically predisposed individuals. Despite the increasing prevalence of CD, many patients remain undiagnosed. Standard serology tests are expensive and invasive, so several point-of-care tests (POC) for CD have been developed. We aimed to determine the prevalence of CD in first-grade pupils in Primorje-Gorski Kotar County, Croatia, using a POC test. Methods. A Biocard celiac test that detects IgA antibodies to tissue transglutaminase in whole blood was used to screen for celiac disease in healthy first-grade children born in 2011 and 2012 who consumed gluten without restrictions. Results. 1478 children were tested, and none of them were tested positive with a rapid test. In 10 children (0,6%), IgA deficiency has been suspected; only 4 of them agreed to be tested further for total IgA, anti-tTG, and anti-DGP antibodies. IgA deficiency was confirmed in 3 patients, and in all 4 children, CD has been excluded. Conclusion. Our results have not confirmed the usefulness of the POC test in screening the general population of first-grade schoolchildren. Further research is needed to establish the true epidemiology of CD in Primorje-Gorski Kotar County and to confirm the value of the rapid test in comparison with standard antibody CD testing.

Imaging to Differentiate the Various Forms of Seronegative Arthritis

2018 ◽  
Vol 22 (02) ◽  
pp. 189-196
Author(s):  
Kay-Geert Hermann ◽  
Anna Zejden ◽  
Iwona Sudoł-Szopińska ◽  
Iris Eshed
Keyword(s):  
Human Leukocyte ◽  
Leukocyte Antigen ◽  
Important Diagnostic Tool ◽  
Inflammatory Bowel ◽  
Diagnostic Work ◽  
Factor Α ◽  
Work Up ◽  
Necrosis Factor

AbstractSpondyloarthritis (SpA) is a group of diseases characterized by back pain, spinal inflammation, human leukocyte antigen-B27 positivity, and peripheral findings such as dactylitis, enthesitis, and uveitis. It includes ankylosing spondylitis, psoriatic arthritis, reactive arthritis, arthritis associated with inflammatory bowel disease, and undifferentiated SpA. The role of imaging in the diagnosis, management, and follow-up of patients with SpA has become dramatically more important with the introduction of new therapies such as tumor necrosis factor-α inhibitors. Although in many instances differentiating between the SpA entities is straightforward based on the clinical presentation, often such differentiation remains challenging, and categorization of an individual patient into a subset of SpA can be difficult. Imaging, mainly radiography and magnetic resonance imaging, serves as an important diagnostic tool. Diseases in the spondyloarthritis complex share common presentation but at the same time may have distinct radiographic phenotypes. We present these common and distinct imaging manifestations that may potentially help distinguish between the entities in the diagnostic work-up.

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