The phospholipase D3 (PLD3) gene has shown association with Alzheimer's disease (AD). However, the role of PLD3 common variants in amyloid-β (Aβ) pathology remains unclear. We examined the association of thirteen common single nucleotide polymorphisms (SNPs) with cerebrospinal fluid (CSF) Aβ(1- 42) levels and florbetapir retention on florbetapir 18F amyloid positron emission tomography (AV45-PET) in a large population. We found that one SNP (rs11667768) was significantly associated with CSF Aβ(1- 42) levels in the normal cognition group. We did not observe an association of any SNP with florbetapir retention. Our study predicted the potential role of PLD3 variants in Aβ pathology.
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http://dx.doi.org/10.3233/JAD-150110 | DOI Listing |
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.
View Article and Find Full Text PDFProbl Endokrinol (Mosk)
January 2024
Background: Osteoporosis is a common age-related disease with disabling consequences, the early diagnosis of which is difficult due to its long and hidden course, which often leads to diagnosis only after a fracture. In this regard, great expectations are placed on advanced developments in machine learning technologies aimed at predicting osteoporosis at an early stage of development, including the use of large data sets containing information on genetic and clinical predictors of the disease. Nevertheless, the inclusion of DNA markers in prediction models is fraught with a number of difficulties due to the complex polygenic and heterogeneous nature of the disease.
View Article and Find Full Text PDFCraniofacial development gives rise to the complex structures of the face and involves the interplay of diverse cell types. Despite its importance, our understanding of human-specific craniofacial developmental mechanisms and their genetic underpinnings remains limited. Here, we present a comprehensive single-nucleus RNA sequencing (snRNA-seq) atlas of human craniofacial development from craniofacial tissues of 24 embryos that span six key time points during the embryonic period (4-8 post-conception weeks).
View Article and Find Full Text PDFJ Surg Case Rep
January 2025
Department of Surgery, Armed Forces Medical College, Pune, Maharashtra, 411040, India.
Basal cell carcinomas are common facial malignancies with minimally invasive treatment approaches effective in the majority of cases. Recurrent aggressive lesions pose significant challenges and need wide local excision with major reconstruction. Geriatric patient with multiple comorbidities needs customized reconstructions to minimize morbidity.
View Article and Find Full Text PDFKnowledge of the natural history of deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical for clinical decision-making and future precision medicine approaches but is challenging because of the diagnostic gap and duration of follow-up that would be required for prospective studies. We aimed to delineate the natural history retrospectively from adulthood.
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