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Rare of Gaucher's Disease Complication of Splenic Multiple Gaucheroma.
Endocr Metab Immune Disord Drug Targets
January 2025
Department of Endocrinology and Metabolic Diseases, Erciyes University Faculty of Medicine, Kayseri, Turkey.
Background: Gaucheromas, pseudotumors composed of Gaucher cells, are rare complications of Gaucher's Disease (GD). They are usually seen in patients receiving enzyme replacement. Surgery is generally not recommended for these benign masses in treatment management.
View Article and Find Full Text PDFEvaluation of Salivary and Serum micro RNA 146a, 200c and its Target Gene PTEN in Chronic Periodontitis Patients and their Response to Non-Surgical Periodontal Therapy.
Microrna
January 2025
Department of Periodontics. Panineeya Institute of Dental Sciences and Research Center. Road no. 5, Kamala Nagar, Dilsukh Nagar, Hyderabad, 500060, India.
Background: Periodontitis destroys the tooth's supporting structures and attachment apparatus. Local or systemic factors can cause it. Traditionally, diagnosis is based on clinical parameters that may not consistently reflect an accurate confirmation.
View Article and Find Full Text PDFLiver Disease Complicating Familial Mediterranean Fever: A Study on 66 Patients Out of 533 Adult From the JIR Cohort.
Liver Int
February 2025
Sorbonne Université, Service Médecine Interne, Centre de référence des maladies autoinflammatoires et des amyloses (CEREMAIA), Assistance Publique des hôpitaux de Paris, Hôpital Tenon, Paris, France.
Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV mutations. FMF patients can experience liver involvement, potentially leading to cirrhosis.
Objectives: This study aimed to evaluate liver involvement in FMF patients at a French tertiary centre for adult FMF.
Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.
Br J Dermatol
January 2025
Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.
View Article and Find Full Text PDFAn integrated investigation of mitochondrial genes in COPD reveals the causal effect of NDUFS2 by regulating pulmonary macrophages.
Biol Direct
January 2025
Key Laboratory of Geriatrics of Jiangsu Province, Department of Geriatrics, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, Jiangsu, China.
Background: Despite the increasing body of evidence that mitochondrial activities implicate in chronic obstructive pulmonary disease (COPD), we are still far from a causal-logical and mechanistic understanding of the mitochondrial malfunctions in COPD pathogenesis.
Results: Differential expression genes (DEGs) from six publicly available bulk human lung tissue transcriptomic datasets of COPD patients were intersected with the known mitochondria-related genes from MitoCarta3.0 to obtain mitochondria-related DEGs associated with COPD (MitoDEGs).
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