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Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment.
Acta Neuropathol Commun
January 2025
Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College (PUMC) and Chinese Academy of Medical Science (CAMS), Beijing, China.
Mutations in the ANXA11 gene, encoding an RNA-binding protein, have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), but the underlying in vivo mechanisms remain unclear. This study examines the clinical features of ALS patients harboring the ANXA11 hotspot mutation p.P36R, characterized by late-onset motor neuron disease and occasional multi-system involvement.
View Article and Find Full Text PDFReal-world experience with nucleos(t)ide analogue therapy and patient survival rates in chronic viral hepatitis B treatment centers in Eritrea.
Sci Rep
January 2025
Division of National Control of Communicable Diseases, Ministry of Health, Asmara, Eritrea.
Real-world data on treatment outcomes or the quality of large-scale chronic hepatitis B (CHB) treatment programs in sub-Saharan Africa (SSA) is extremely difficult to obtain. In this study, we aimed to provide data on the prevalence and incidence of mortality, loss to follow-up (LFTU), and their associated factors in patients with CHB in three treatment centres in Eritrea. Additional information includes baseline clinical profiles of CHB patients initiated on nucleos(t)ide analogue (NUCs) along with a comparison of treatment with Tenofovir disoproxil fumarate (TDF) vs.
View Article and Find Full Text PDFPerioperative outcomes in an age-adapted analysis of the German StuDoQ|Pancreas registry for PDAC.
BMC Surg
January 2025
Department of General, Visceral and Transplantation Surgery, LMU University Hospital Munich, LMU Munich, Munich, Germany.
Background: Pancreatic ductal adenocarcinoma (PDAC) typically occurs in an older patient population. Yet, early-onset pancreatic cancer (EOPC) has one of the fastest growing incidence rates. This study investigated the influence of age and tumor location on postoperative morbidity and mortality in a large, real-world dataset.
View Article and Find Full Text PDFOverall and late mortality among 24 459 survivors of adolescent and young adult cancer in Alberta, Canada: a population-based cohort study.
Lancet Public Health
January 2025
Department of Oncology, University of Calgary, Calgary, AB, Canada; Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada; Department of Cancer Epidemiology and Prevention Research, Cancer Care Alberta, Alberta Health Services, Arthur Child Comprehensive Cancer Centre, Calgary, AB, Canada. Electronic address:
Background: Adolescent and young adult (AYA) cancer survivors are at an increased risk of premature mortality due to their cancer and its treatment. Herein, we aimed to quantify the excess risks of mortality among AYA cancer survivors and identify target populations for intervention.
Methods: The Alberta AYA Cancer Survivor Study is a retrospective, population-based cohort of individuals diagnosed with a first primary neoplasm at age 15-39 years in Alberta, Canada, between 1983 and 2017.
Unraveling the complexity of HRD assessment in ovarian cancer by combining genomic and functional approaches: translational analyses of MITO16-MaNGO-OV-2 trial.
ESMO Open
January 2025
Uro-Gynecologic Oncology Unit, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, Naples, Italy. Electronic address:
Background: Ovarian cancer (OvC) constitutes significant management challenges primarily due to its late-stage diagnosis and the development of resistance to chemotherapy. The standard treatment regimen typically includes carboplatin and paclitaxel, with the addition of poly (ADP-ribose) polymerase inhibitors for patients with high-grade serous ovarian cancer (HGSOC) harboring BRCA1/2 mutations. However, the variability in treatment responses suggests the need to investigate factors beyond BRCA1/2 mutations, such as DNA repair mechanisms and epigenetic alterations.
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