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Clinical characteristics and biomarker profile in early- and late-onset Alzheimer's disease: the Shanghai Memory Study.
Brain Commun
January 2025
Institute and Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China.
Early-onset Alzheimer's disease constitutes ∼5-10% of Alzheimer's disease. Its clinical characteristics and biomarker profiles are not well documented. To compare the characteristics covering clinical, neuropsychological and biomarker profiles between patients with early- and late-onset Alzheimer's disease, we enrolled 203 patients (late-onset Alzheimer's disease = 99; early-onset Alzheimer's disease = 104) from a Chinese hospital-based cohort, the Shanghai Memory Study.
View Article and Find Full Text PDFReinforcement Learning is Impaired in the Sub-acute Post-stroke Period.
Neurorehabil Neural Repair
January 2025
Department of Physical Medicine and Rehabilitation, Johns Hopkins University, Baltimore, MD, USA.
Background: In humans, most spontaneous recovery from motor impairment after stroke occurs in the first 3 months. Studies in animal models show higher responsiveness to training over a similar time-period. Both phenomena are often attributed to a milieu of heightened plasticity, which may share some mechanistic overlap with plasticity associated with normal motor learning.
View Article and Find Full Text PDFMycoplasma pneumoniae detections in children with acute respiratory infection, 2010-2023: a large sample study in China.
Ital J Pediatr
January 2025
Department of Cardiovascular Medicine, The First Affiliated Hospital of Soochow University, Suzhou, 215000, China.
Background: This study aimed to describe the epidemiological trends of Mycoplasma pneumoniae (MP) infection among children with acute respiratory tract infections (ARTIs) before, during and after the COVID-19 pandemic, and evaluating the impact of non-pharmaceutical interventions (NPIs) on the epidemiology of MP infection.
Methods: Children with ARTIs admitted to the Children's Hospital of Soochow University (SCH) from January 2010 to December 2023 and underwent MP nucleic acid PCR assay were included. Clinical data on age, sex, onset time and detection result were collected and analyzed.
Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking.
BMC Med Genomics
January 2025
Department of Critical Care Medicine, Affiliated Hospital of Medical School, Nanjing Drum Tower Hospital, Nanjing University, No. 321 Zhongshan Road, Nanjing, 210008, Jiangsu Province, China.
Background: Glycerol-3-phosphate dehydrogenase 1 (GPD1) gene defect can cause hypertriglyceridemia (HTG), which usually occurs in infants. The gene defect has rarely been reported in adult HTG patients. In the present study, we described the clinical and functional analyses of a novel GPD1 missense variant in a Chinese adult patient with recurrent hypertriglyceridemia‑related acute pancreatitis (HTG-AP), consuming a high-fat diet and smoking heavily.
View Article and Find Full Text PDFA de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.
Sci Rep
January 2025
Division for Neurogeriatrics, Centre for Alzheimer Research, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
Copy number variation (CNV) of the amyloid-β precursor protein gene (APP) is a known cause of autosomal dominant Alzheimer disease (ADAD), but de novo genetic variants causing ADAD are rare. We report a mother and daughter with neuropathologically confirmed definite Alzheimer disease (AD) and extensive cerebral amyloid angiopathy (CAA). Copy number analysis identified an increased number of APP copies and genome sequencing (GS) revealed the underlying complex genomic rearrangement (CGR) including a triplication of APP with two unique breakpoint junctions (BPJs).
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