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Progress report on multiple endocrine neoplasia type 1.
Fam Cancer
January 2025
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder caused by a germline pathogenic variant in the MEN1 tumor suppressor gene. Patients with MEN1 have a high risk for primary hyperparathyroidism (PHPT) with a penetrance of nearly 100%, pituitary adenomas (PitAd) in 40% of patients, and neuroendocrine neoplasms (NEN) of the pancreas (40% of patients), duodenum, lung, and thymus. Increased MEN1-related mortality is mainly related to duodenal-pancreatic and thymic NEN.
View Article and Find Full Text PDFPRMT5 Inhibition Reduces Hyperinflammation in a Murine Model of Secondary Hemophagocytic Lymphohistiocytosis (HLH).
Blood Adv
January 2025
The Ohio State University, Columbus, Ohio, United States.
Hemophagocytic lymphohistiocytosis (HLH) is a rare but aggressive and potentially lethal hyperinflammatory syndrome characterized by pathologic immune activation and excessive production of proinflammatory cytokines leading to tissue damage and multisystem organ failure. There is an urgent need for the discovery of novel targets and development of therapeutic strategies to treat this rare but deadly syndrome. Protein Arginine Methyltransferase 5 (PRMT5) mediates T cell-based inflammatory responses, making it a potential actionable target for the treatment of HLH.
View Article and Find Full Text PDFInter-Rater Disagreements in Applying the Montreal Classification for Crohn's Disease: The Five-Nations Survey Study.
United European Gastroenterol J
January 2025
Sheba Medical Center, Institute of Gastroenterology, Ramat-Gan, Israel.
Background: The Montreal classification has been widely used in Crohn's disease since 2005 to categorize patients by the age of onset (A), disease location (L), behavior (B), and upper gastrointestinal tract and perianal involvement. With evolving management paradigms in Crohn's disease, we aimed to assess the performance of gastroenterologists in applying the Montreal classification.
Methods: An online survey was conducted among participants at an international educational conference on inflammatory bowel diseases.
Study of Children Aged Under 2 Years Admitted With RSV at Four Australian Hospitals [2021-2022].
J Paediatr Child Health
January 2025
WHO Collaborating Centre for Reference and Research on Influenza, VIDRL, Doherty Institute, Melbourne, Victoria, Australia.
Aims: Primary aim was to review severe acute respiratory infections (SARI) hospitalisations caused by respiratory syncytial virus (RSV) in children aged < 2 years in paediatric hospitals in Australia. Secondary aims included RSV subtyping, assessing RSV seasonality and contributing to the World Health Organisation's RSV surveillance programme.
Methods: We prospectively reviewed the medical records of children (< 2 years of age) with a confirmed SARI who were admitted to one of four major Australian paediatric hospitals and had a respiratory sample analysed by Polymerase Chain Reaction (PCR).
Development and validation of a risk prediction model for gestational diabetes mellitus in women of advanced maternal age during the first trimester.
FASEB J
January 2025
Department of Obstetrics and Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, 200011, China.
With the global rise in advanced maternal age (AMA) pregnancies, the risk of gestational diabetes mellitus (GDM) increases. However, few GDM prediction models are tailored for AMA women. This study aims to develop a practical risk prediction model for GDM in AMA women.
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