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Ambient Air Pollution and Congenital Heart Disease: Updated Evidence and Future Challenges.
Antioxidants (Basel)
January 2025
Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy.
Congenital heart disease (CHD) represents the major cause of infant mortality related to congenital anomalies globally. The etiology of CHD is mostly multifactorial, with environmental determinants, including maternal exposure to ambient air pollutants, assumed to contribute to CHD development. While particulate matter (PM) is responsible for millions of premature deaths every year, overall ambient air pollutants (PM, nitrogen and sulfur dioxide, ozone, and carbon monoxide) are known to increase the risk of adverse pregnancy outcomes.
View Article and Find Full Text PDFThe Diagnosis and Therapy of Osteoporosis in Gaucher Disease.
Calcif Tissue Int
January 2025
Fondazione FIRMO Onlus, Italian Foundation for the Research On Bone Diseases, Florence, Italy.
Gaucher disease is a rare lysosomal storage disorder characterized by the accumulation of glucocerebroside lipids within multiple organs due to a deficiency of the lysosomal enzyme (acid β-glucosidase). It is an inherited autosomal recessive disease. The onset of symptoms can vary depending on disease type and severity, with milder forms presenting in adulthood.
View Article and Find Full Text PDFEvaluation of single nucleotide polymorphisms in the human norepinephrine transporter (hNET) gene for structural, functional, and pathogenic significance.
Nucleosides Nucleotides Nucleic Acids
January 2025
Department of Molecular Biology and Genetics, Hitit University, Corum, Türkiye.
The norepinephrine transporter (NET) is a key regulator of noradrenergic neurotransmission and homeostasis, regulating the norepinephrine levels in the brain and peripheral tissues. hNET is a major target in neuropsychiatric disorders such as major depressive disorder, autonomic dysfunction, and attention deficit hyperactivity disorder (ADHD). The human norepinephrine transporter gene (, ) contains 504 missense single nucleotide polymorphisms (SNPs).
View Article and Find Full Text PDFMajor depressive disorder (MDD) is one of the most common diseases affecting millions of people worldwide. The use of existing antidepressants in many cases does not allow achieving stable remission, probably due to insufficient understanding of pathological mechanisms. This indicates the need for the development of more effective drugs based on in-depth understanding of MDD's pathophysiology.
View Article and Find Full Text PDFSeasonal patterns of myositis-specific and myositis-associated autoantibodies in Italy: Seasonal patterns of myositis autoantibodies.
Immunol Lett
December 2024
Laboratory of Clinical Pathology, Azienda Sanitaria Universitaria Integrata, Udine, Italy.
Objective: Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of systemic autoimmune disorders affecting skeletal muscles but also other organs. There are different forms of IIM, each with peculiar clinical manifestations and prognosis. Accordingly, several autoantibodies have been described in IIM, with different prevalence in the different forms of the disease.
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