Primary mediastinal B-cell lymphoma (PMBL) is an aggressive extranodal B-cell non-Hodgkin's lymphoma with specific clinical, histopathological and genomic features. To characterize further the genotype of PMBL, we analyzed 37 tumor samples and PMBL cell lines Med-B1 and Karpas1106P using array-based comparative genomic hybridization (matrix- or array-CGH) to a 2.8k genomic microarray. Due to a higher genomic resolution, we identified altered chromosomal regions in much higher frequencies compared with standard CGH: for example, +9p24 (68%), +2p15 (51%), +7q22 (32%), +9q34 (32%), +11q23 (18%), +12q (30%) and +18q21 (24%). Moreover, previously unknown small interstitial chromosomal low copy number alterations (for example, -6p21, -11q13.3) and a total of 19 DNA amplifications were identified by array-CGH. For 17 chromosomal localizations (10 gains and 7 losses), which were altered in more than 10% of the analyzed cases, we delineated minimal consensus regions based on genomic base pair positions. These regions and selected immunohistochemistries point to candidate genes that are discussed in the context of NF-kappaB transcription activation, human leukocyte antigen class I/II defects, impaired apoptosis and Janus kinase/signal transducer and activator of transcription (JAK/STAT) activation. Our data confirm the genomic uniqueness of this tumor and provide physically mapped genomic regions of interest for focused candidate gene analysis.
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http://dx.doi.org/10.1038/sj.leu.2404919 | DOI Listing |
Respir Res
December 2024
Department of Medicine and Surgery, Pediatric Clinic, University of Parma, Via Gramsci 14, 43126, Parma, Italy.
Background: Exercise-induced bronchoconstriction (EIB) is common in children with asthma but can be present also in children without asthma, especially athletes. Differential diagnosis includes several conditions such as exercise-induced laryngeal obstruction (EILO), cardiac disease, or physical deconditioning. Detailed medical history, clinical examination and specific tests are mandatory to exclude alternative diagnoses.
View Article and Find Full Text PDFBMC Med Educ
December 2024
Department of Community and Family Medicine, All India Institute of Medical Sciences, Patna, India.
Background: Despite the increasing integration of competency-based education in medicine, there remains a significant gap in effectively assessing educational outcomes, underscoring the urgent need for designed assessment blueprints that accurately reflect both curriculum content and competency standards in Community Medicine for undergraduate students. This study, conducted across the All-India Institute of Medical Sciences (AIIMS) network, develops a summative assessment blueprint aimed at standardizing evaluations in medical education across diverse geographic locations in India.
Methods: Twenty-five experts from 10 All India Institutes of Medical Science were invited via email and contributed for summative assessment for a theory paper.
Curr Oncol
December 2024
Unity Health Toronto, University of Toronto, Toronto, ON M5B 1W8, Canada.
Gastric cancer is common globally and has a generally poor prognosis with a low 5-year survival rate. Targeted therapies and immunotherapies have improved the treatment landscape, providing more options for efficacious treatment. The use of these therapies requires predictive biomarker testing to identify patients who can benefit from their use.
View Article and Find Full Text PDFClin Endocrinol (Oxf)
December 2024
Department of Medicine, University of Auckland, Auckland, New Zealand.
Objective: Vitamin D deficiency (VDD) in children can cause hypocalcaemia and rickets, but the prevalence of these complications and the 25-hydroxyvitamin D (25OHD) concentrations below which they arise is uncertain. We investigated this in children (< 18 years) with 25OHD measurements.
Design, Measurement And Patients: We obtained 25OHD results from the regional laboratory database, alongside albumin-adjusted serum calcium (aCa), parathyroid hormone (PTH) and alkaline phosphatase (ALP) within 6 months of the index 25OHD.
Front Endocrinol (Lausanne)
December 2024
The Fertility Clinic, Skive Regional Hospital, Skive, Department of Clinical Medicine, Aarhus University, Skive, Denmark.
Background: In a global effort to assess expert perspectives on the use of recombinant gonadotropins, recombinant human luteinizing hormone (r-hLH) and recombinant human follicle-stimulating hormone (r-hFSH), a consensus meeting was held in Dubai. The key aim was to address three critical questions: What are the factors that influence follicle response to gonadotropins? Which categories of patients are most likely to benefit from LH supplementation? And what are the optimal management strategies for these patients?
Methods: A panel of thirty-six experts reviewed and refined the initial statements and references proposed by the Scientific Coordinator. Consensus was defined as agreement or disagreement by more than two-thirds (66%) of the panel members for each statement.
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