Objective: To analyze whether a positive family history of dementia (PFHD) is more common in sporadic CJD (sCJD) than in healthy/population controls and to study associated risk factors.
Patients/methods: Six hundred and eighty-five sCJD patients and 659 sex-/age-matched controls were included. A PFHD in parents/grandparents/siblings was evaluated. The PRNP M129V polymorphism and ApoE genotype in sCJD with/without PFHD were determined by PCR.
Results: PFHD was found in 12.1% of sCJD patients and 5.6% of controls (p<0.001). No significant difference in M129V polymorphism was found between sCJD with and without PFHD. Thirty-six percent of sCJD patients with PFHD, 26% without PFHD and 19% of healthy controls had at least one ApoE4 allele. Compared to controls, ApoE4 allele frequency (p=0.005) and proportion of ApoE4 allele carriers (p=0.019) were significantly higher in sCJD with PFHD.
Interpretation: A higher frequency of the ApoE4 allele in sCJD with a PFHD could be indicative of an additional risk factor in CJD.
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http://dx.doi.org/10.1016/j.neurobiolaging.2007.07.014 | DOI Listing |
BMC Pulm Med
January 2025
Department of Pulmonary Medicine, National Hospital Organization MinamiKyushu Hospital, 1882 Kida, Aira-Shi, Kagoshima, 899-5293, Japan.
Background: Reports of autoimmune diseases coexisting with autoimmune pulmonary alveolar proteinosis (autoimmune PAP; APAP) are extremely rare. APAP coexisting with autoimmune diseases may often be misdiagnosed as connective tissue disease-associated interstitial lung disease (ILD). Here, we describe a rare case of a patient with systemic sclerosis who was diagnosed with APAP after the exacerbation of lung opacities during treatment with immunosuppressive agents.
View Article and Find Full Text PDFNat Plants
January 2025
National Key Laboratory of Plant Molecular Genetics, CAS Center for Excellence in Molecular Plant Sciences, Institute of Plant Physiology and Ecology, Chinese Academy of Sciences, Shanghai, China.
Arabidopsis PHOSPHATE 1 (AtPHO1) and its closest homologue AtPHO1;H1 are phosphate transporters that load phosphate into the xylem vessel for root-to-shoot translocation. AtPHO1 and AtPHO1;H1 are prototypical members of the unique SPX-EXS family, whose structural and molecular mechanisms remain elusive. In this study, we determined the cryogenic electron microscopy structure of AtPHO1;H1 binding with inorganic phosphate (Pi) and inositol hexakisphosphate in a closed conformation.
View Article and Find Full Text PDFSci Rep
January 2025
National Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Optical genome mapping (OGM) offers high consistency in simultaneously detecting structural and copy number variants. This study aimed to retrospectively evaluate the efficacy and potential applications of OGM in preconception genetic counseling. Herein, 74 samples from 37 families were included, and their results of OGM were compared to conventional methods, namely karyotyping (KT) and chromosomal microarray analysis (CMA), which identified 27 variants across 16 positive families.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Internal Medicine /Allergy and Clinical Immunology, Ain- Shams University, Cairo, Egypt.
Female obesity is a worldwide health issue linked to chronic metabolic low-grade inflammation (metaflammation) causing multiple obesity-related co-morbid conditions. We aimed to assess the serum levels of wingless integration site family member 5 A (Wnt5a), leptin, and tumor necrosis factor-alpha (TNF-α) as markers of obesity-associated metaflammation and investigate the association with toll-like receptors2 (TLR2) gene (Arg753Gln) single nucleotide polymorphism (SNP) among Egyptian females. The study included 60 females with obesity and 30 matched controls.
View Article and Find Full Text PDFActa Psychol (Amst)
January 2025
Department of [Neurology], First Affiliated Hospital of Bengbu Medical University, No. 287, Chang huai Road, Zhihua Street, Long zi hu District, Bengbu City, Anhui Province, China.
Objective: To investigate the different categories of benefit finding among caregivers of patients with ischemic stroke and the mechanisms of personality and coping styles using an individual-centered approach.
Methods: A cross-sectional survey was conducted among 235 caregivers of patients with ischemic stroke in the neurology departments of three tertiary hospitals in Bengbu using the revised Inventory of Illness Benefit, the Short Form of the Chinese Big Five Personality Inventory, and the Simplified Coping Style Questionnaire.
Results: The benefit finding of caregivers of patients with ischemic stroke could be categorized into three latent classes: "Low sense of benefit-low personal growth group " (n = 58, 24.
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