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Emerging therapeutic strategies in Lynch syndrome-associated colorectal cancer and the role of MMR testing.
Tumori
January 2025
3rd Surgical Unit, Department of Surgical, Gastroenterological and Oncological Sciences, University of Padua, Padua, Italy.
Lynch syndrome is the most common hereditary cancer predisposition, accounting for 1-5% of colorectal cancer cases, and is driven by germline mutations in DNA mismatch repair genes. Despite established diagnostic criteria, such as the Amsterdam guidelines, Lynch syndrome remains largely underdiagnosed. To address this gap, universal tumour screening has been introduced for all newly diagnosed cases of colorectal cancer and endometrial cancer, significantly improving early detection.
View Article and Find Full Text PDFEvaluating plasma biomarkers NfL, GFAP, GDF15, and FGF21 as indicators of disease severity in Charcot-Marie Tooth patients.
Front Neurol
January 2025
14th European Reference Network in Neuromuscular Disorders (EURO-NMD), Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia.
Background: Charcot-Marie-Tooth disease (CMT), a slowly advancing hereditary nerve disorder, presents a significant challenge in the medical field. Effective drugs for treatment are lacking, and we struggle to find sensitive markers to track the disease's severity and progression. In this study, our objective was to investigate the levels of neurofilament light chain (NfL), glial fibrillary acid protein (GFAP), fibroblast growth factor 21 (FGF-21) and growth differentiation factor 15 (GDF-15) in individuals with CMT and to compare them to a control group.
View Article and Find Full Text PDFFamilial Mediterranean fever in Romania: a case report and literature review.
Front Pediatr
January 2025
Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania.
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever and systemic inflammation, most prevalent in Eastern Mediterranean populations. Rare in regions like Romania, FMF presents diagnostic challenges and risks severe complications if untreated. We report a 7-year-old Romanian girl, from a non-classical ethnic background, with recurrent febrile episodes and elevated inflammatory markers.
View Article and Find Full Text PDF[Pediatrics. Diagnosis of generalized joint hypermobility in children].
Rev Med Suisse
January 2025
Centre pédiatrique de Meyrin, Rue de la Prulay 35, 1217 Meyrin.
Joint hypermobility is a common feature in children and adolescents, often physiological and benign, but it is also a manifestation of hereditary connective tissue disorders. In pediatrics, there is a real need to differentiate Ehlers-Danlos syndrome (EDS) hypermobile type (hEDS) from benign hypermobility, in the absence of a genetic marker specific to this form of EDS. In 2023, the International Ehlers-Danlos Consortium revised the diagnostic criteria for children and adolescents, introducing the concept of hypermobility spectrum disorder.
View Article and Find Full Text PDFReport of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome).
Turk J Ophthalmol
January 2025
İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Ophthalmology, İstanbul, Türkiye.
Jeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications. Approximately 1 in every 100,000 to 130,000 babies is born with JS. Most patients with JS have respiratory distress due to inadequate lung development and many lose their lives due to respiratory failure.
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