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Genomic profiling at a single center cracks the code in inborn errors of immunity.
Intern Emerg Med
January 2025
Unit of Internal Medicine and Clinical Oncology "G. Baccelli", Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro Medical School, Bari, Italy.
Inborn errors of immunity (IEI) entail a diverse group of disorders resulting from hereditary or de novo mutations in single genes, leading to immune dysregulation. This study explores the clinical utility of next-generation sequencing (NGS) techniques in diagnosing monogenic immune defects. Eight patients attending the immunodeficiency clinic and with unclassified antibody deficiency were included in the analysis.
View Article and Find Full Text PDFRhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum.
Genes Chromosomes Cancer
January 2025
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, presenting with heterogeneous clinical and molecular subtypes. While gene fusions are predominantly associated with alveolar RMS, spindle cell RMS, especially congenital and intraosseous variants, are also linked to specific gene fusions. Furthermore, recently, FGFR1 kinase-driven RMSs were published.
View Article and Find Full Text PDFOral Dysaesthetic and Perceptual Disorder, a Distinct Subset of Chronic Orofacial Pain Without Burning Symptoms: A Case-Control Study.
J Oral Rehabil
January 2025
Department of Neuroscience, Reproductive Sciences, and Dentistry, University of Naples "Federico II", Naples, Italy.
Background: According to the ICOP 2020, burning mouth syndrome (BMS) is a chronic orofacial pain disorder characterised by an intraoral burning sensation, which represents the main diagnostic criterion. However, some patients experience other symptoms such as xerostomia, taste alterations and globus, without the burning sensation (non-BMS).
Objective: This study aims to explore non-BMS as a distinct subclinical entity by comparing the classical BMS with this new group of patients in a case-control study, addressing gaps in current diagnostic criteria.
Early Surgery and Screw-Only Osteosyntheses in Minimally Invasive Treatment of Calcaneal Fractures-Risk or Benefit for Our Patients?
J Clin Med
January 2025
Trauma Center Linz, Garnisonstrasse 10, 4060 Linz, Austria.
This study aims to analyze the outcomes following the minimally invasive surgery of calcaneal fractures using screw-only osteosynthesis, as well as the impact of surgical timing. Between 2015 and 2020, 155 patients with 168 fractures were included. According to the Sanders classification, 48.
View Article and Find Full Text PDFThe Incidence and Clinical Characteristics of COVID-19 in Children With IBD During the Omicron Wave: A Single-Center Experience in China.
Gastroenterol Res Pract
January 2025
Department of Gastroenterology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong Province, China.
The pandemic of coronavirus disease 2019 (COVID-19) had a major impact on the health of people worldwide, including the pediatric inflammatory bowel disease (PIBD) patients. As no study has investigated the susceptibility and disease course of COVID-19 in PIBD patients after the end of zero-COVID policy in China, we conducted a retrospective cross-sectional study in our center. A cross-sectional survey enrolling PIBD patients has been completed by online survey, phone, and face-to-face assessment.
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