Background: The diagnosis of coeliac disease (CD) in adults is based on clinical, serological and histological criteria. The inappropriate performance of intestinal biopsies, non-specificity of mild histological lesions and initiation of a gluten-free diet (GFD) before biopsy may hamper the diagnosis. In these situations, determining the intraepithelial lymphogram of the duodenum by flow cytometry (IEL-FC) can be helpful.
Objectives: To describe the clinical scenarios in which the IEL-FC is used and its impact on the diagnosis of CD.
Methods: All adult patients with suspected CD at three tertiary centres for whom the duodenal histology and IEL-FC were available were identified. Catassi and Fasano's diagnostic criteria and changes to a CD diagnosis after the IEL-FCs were collected.
Results: A total of 348 patients were included. The following indications for an IEL-FC formed part of the initial study for CD (38%): negative conventional work-up (32%), already on a GFD before duodenal biopsies (29%) and refractoriness to a GFD (2%). The IEL-FC facilitated a definitive diagnosis in 93% of patients with an uncertain diagnosis who had had a conventional work-up for CD or who were on a GFD before histology.
Conclusions: The IEL-FC facilitates the confirmation or rejection of a diagnosis of CD in clinical scenarios in which a conventional work-up may be insufficient.
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http://dx.doi.org/10.3390/nu16111633 | DOI Listing |
Ann Hematol
January 2025
Hematology Service, Experimental Hematology, Vall d'Hebron Hospital Universitari, Vall d'Hebron Institute of Oncology (VHIO), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.
This study investigated the importance of comprehensive genetic diagnosis in pediatric B-cell acute lymphoblastic leukemia (B-ALL). We analyzed 175 B-ALL employing karyotyping, FISH, MLPA, targeted next-generation sequencing (t-NGS), and Optical Genome Mapping (OGM). This approach achieved an 83% classification rate, identifying 17 distinct genetic subtypes.
View Article and Find Full Text PDFAnn Endocrinol (Paris)
January 2025
Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, 94 275 Le Kremlin Bicêtre, France. Electronic address:
Preoperative treatment of PHPT aims to 1) manage severe and/or symptomatic hypercalcemia and 2) prevent postoperative hypocalcemia. Severe hypercalcemia, defined as a blood calcium level ≥ 3.5 mmol/L, requires admission to hospital in a conventional or critical care unit, depending on clinical symptoms and comorbidities.
View Article and Find Full Text PDFBlood
December 2024
University of Pavia, Pavia, Italy.
The term "unexplained cytopenia" is used to describe a condition characterized by peripheral blood (PB) cytopenia that cannot be attributed to identifiable causes using conventional tests or to any concomitant diseases. Unexplained cytopenia requires clinical attention and further investigation to identify individuals at risk of developing a hematologic neoplasm. The available evidence suggests that somatic mutation analysis may effectively complement the diagnostic work-up and clinical management of unexplained cytopenia.
View Article and Find Full Text PDFHip Int
January 2025
Colorado Joint Replacement, Denver, CO, USA.
Introduction: A primary objective when performing a total hip arthroplasty (THA) is to restore hip biomechanics in accordance with a chosen surgical plan. The aim of this study was to assess the accuracy of a 3D-printed patient-specific guide for delivering a planned femoral osteotomy for both a posterior and an anterior approach.
Methodology: 40 patients (20 anterior and 20 posterior) scheduled for THA received a preoperative work-up allowing for patient-specific implant sizing and positioning.
Ital J Pediatr
December 2024
Department of Health Sciences, University of Florence, Florence, 50139, Italy.
From a taxonomic point of view, Hymenoptera are subclassified into families: Apidae, including honeybees (Apis mellifera) and bumblebees (Bombus), and Vespidae, which, in turn, are divided into the subfamilies of Vespinae (wasps, including hornets, vespules, dolichovespules) and Polistinae (paper wasp). Hypersensitivity to Hymenoptera venom can be linked to immunological (IgE-mediated or non-IgE-mediated) and non-immunological mechanisms. Reactions are classified into local reactions, large local reactions, systemic reactions, toxic reactions, and unusual reactions.
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