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Alzheimer's disease and antibody-mediated immune responses to infectious diseases agents: a mendelian randomization study.
Hereditas
January 2025
The Affiliated Traditional Chinese Medicine Hospital, Southwest Medical University, No. 182 Chunhui Road, Longmatan District, Luzhou, Sichuan, 646000, China.
Background: Alzheimer's disease (AD) is a prevalent neurodegenerative disorder, with antibody-mediated immune responses to infectious diseases agents potentially playing a decisive role in its pathophysiological process. However, the causal relationship between antibodies and AD remains unclear.
Methods: A two-sample Mendelian randomization (MR) analysis was conducted to investigate the causal link between antibody-mediated immune responses to infectious diseases agents and the risk of AD.
Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFGene-level analysis reveals the genetic aetiology and therapeutic targets of schizophrenia.
Nat Hum Behav
January 2025
Department of Psychosomatics and Psychiatry, Zhongda Hospital, School of Medicine, Jiangsu Provincial Key Laboratory of Brain Science and Medicine, Advanced Institute for Life and Health, Southeast University, Nanjing, China.
Genome-wide association studies (GWASs) have reported multiple risk loci for schizophrenia (SCZ). However, the majority of the associations were from populations of European ancestry. Here we conducted a large-scale GWAS in Eastern Asian populations (29,519 cases and 44,392 controls) and identified ten Eastern Asian-specific risk loci, two of which have not been previously reported.
View Article and Find Full Text PDFCerebral aspergillosis in a patient with chronic lymphocytic leukaemia complicated by Evans syndrome.
BMJ Case Rep
January 2025
Internal Medicine, East Suffolk and North Essex NHS Foundation Trust Ipswich Hospital, Ipswich, UK.
This case report presents a complex medical scenario involving early 60s female patient with a history of chronic lymphocytic leukaemia (CLL) complicated by Evans syndrome, characterised by autoimmune haemolytic anaemia and immune thrombocytopenia. The patient had received various treatments, including steroids, rituximab, cyclosporine and acalabrutinib. The patient's neurological symptoms began around 3 years prior to presentation, with shaking of her right leg, followed by shaking of both hands, particularly the left hand.
View Article and Find Full Text PDFTargeted metabolomics reveals novel diagnostic biomarkers for colorectal cancer.
Mol Oncol
January 2025
Shanghai Stomatological Hospital & School of Stomatology & Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
Colorectal cancer (CRC) is a prevalent malignant tumor worldwide, with a high mortality rate due to its complex etiology and limited early screening techniques. This study aimed to identify potential biomarkers for early detection of CRC utilizing targeted metabolite profiling of platelet-rich plasma (PRP). Based on multiple reaction monitoring (MRM) mode, liquid chromatography tandem mass spectrometry (LC-MS/MS) analysis identified metabolites in PRP collected from patients with CRC (n = 70) and healthy controls (n = 30).
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