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Exploring in Ischemic Stroke and Moyamoya Disease: From Cellular Models to Clinical Insights.
Biomedicines
December 2024
Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.
Advances in stroke genetics have highlighted the critical role of rare genetic variants in cerebrovascular diseases, with emerging as a key player in ischemic stroke and Moyamoya disease (MMD). Initially identified as the primary susceptibility gene for MMD, -notably the p.R4810K variant-has been strongly linked to intracranial artery stenosis (ICAS) and various ischemic stroke subtypes, particularly in East Asian populations.
View Article and Find Full Text PDFRare regression of congenital brainstem high-grade glioma: case report and literature review.
Childs Nerv Syst
January 2025
Division of Neurosurgery, Department of Surgery, National University Hospital of Singapore, 5 Lower Kent Ridge Rd, Singapore, 119074, Singapore.
Congenital infantile brainstem high-grade gliomas (HGGs) are extremely rare. Given the limited literature characterizing this disease, management of these tumors remains challenging. Brainstem HGGs are generally associated with extremely poor prognosis.
View Article and Find Full Text PDFPrimary Pulmonary MALT Lymphoma on 18F-FDG and 68Ga-FAPI PET/CT.
Clin Nucl Med
January 2025
From the Department of Nuclear Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Beijing Key Laboratory of Molecular Targeted Diagnosis and Therapy in Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Primary pulmonary mucosa-associated lymphoid tissue lymphoma is extremely rare. We present the 18F-FDG and 68Ga-FAPI PET/CT findings in a 56-year-old woman with pathologically confirmed primary pulmonary mucosa-associated lymphoid tissue lymphoma. 68Ga-FAPI PET/CT showed a higher uptake value than 18F-FDG PET/CT in the pulmonary lesion.
View Article and Find Full Text PDFThe Prevalence of Peripheral Erythrophagocytosis in Pediatric Immune-Mediated Hemolytic Anemia.
Hematol Rep
January 2025
Children's Haematology and Cancer Centre, Mount Elizabeth Hospital, Singapore 228510, Singapore.
Background: Peripheral erythrophagocytosis appears to be a unique sign of acquired immune-mediated hemolytic anemia. It is said to be rare but its prevalence among patients with autoimmune hemolytic anemia has not been studied.
Methods: In this retrospective study from July 2014 to June 2024, the clinical and laboratory features, treatment and outcomes of children diagnosed with autoimmune hemolytic anemia were described.
A map of the rubisco biochemical landscape.
Nature
January 2025
Innovative Genomics Institute, University of California Berkeley, Berkeley, CA, USA.
Rubisco is the primary CO-fixing enzyme of the biosphere, yet it has slow kinetics. The roles of evolution and chemical mechanism in constraining its biochemical function remain debated. Engineering efforts aimed at adjusting the biochemical parameters of rubisco have largely failed, although recent results indicate that the functional potential of rubisco has a wider scope than previously known.
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