Osteosarcoma is the most common primary malignancy of bone. Most cases are sporadic without a known genetic or environmental cause. Heritable genetic predisposition syndromes are associated with a small percentage of osteosarcomas. Study of these rare disorders has provided insight into the molecular pathogenesis of osteosarcoma. Screening of at-risk families and surveillance of affected individuals for these syndromes may permit earlier diagnosis and more effective treatment of osteosarcoma in these populations. This paper reviews the genetic and clinical features of the known osteosarcoma predisposition syndromes.
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http://dx.doi.org/10.1155/2012/152382 | DOI Listing |
Nutrients
December 2024
Department of Food Science and Experimental Nutrition, School of Pharmaceutical Sciences, University of São Paulo, São Paulo 05508-000, SP, Brazil.
The microbiota stability, diversity, and composition are pillars for an efficient and beneficial symbiotic relationship between its host and itself. Microbial dysbiosis, a condition where a homeostatic bacterial community is disturbed by acute or chronic events, is a predisposition for many diseases, including local and systemic inflammation that leads to metabolic syndrome, diabetes, and some types of cancers. Classical dysbiosis occurs in the large intestine.
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December 2024
Department of Food and Nutrition, Obesity/Diabetes Research Center, Hoseo University, 20 Hoseoro97bungil, BaeBang-Yup, Asan 31499, Republic of Korea.
Background: Myocardial infarction (MI) can range from mild to severe cardiovascular events and typically develops through complex interactions between genetic and lifestyle factors.
Objectives: We aimed to understand the genetic predisposition associated with MI through genetic correlation, colocalization analysis, and cells' gene expression values to develop more effective prevention and treatment strategies to reduce its burden.
Methods: A polygenic risk score (PRS) was employed to estimate the genetic risk for MI and to analyze the dietary interactions with PRS that affect MI risk in adults over 45 years ( = 58,701).
Int J Mol Sci
December 2024
Sathyamoorthy Laboratory, Department of Medicine, Burnett School of Medicine at TCU, Fort Worth, TX 76104, USA.
After reporting the first known clinical case associating compound heterozygous single-nucleotide variants in Exon 2 of to aortic aneurysmal and iliac dissection, we began prospective surveillance in our vascular genetic practice for similar cases. Herein, we present nine (9) subjects from a total cohort of 135 with arterial aneurysms or dissections who revealed single-nucleotide variants in with no other alterations in a panel of 35 genes associated with aneurysmal and dissection disorders. Five out of nine (5/9) single-nucleotide variants were in Exon 1, and four out of nine (4/9) mutations were in Exon 2, both of which are principal coding exons for this gene.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Nora Eccles Harrison Cardiovascular Research and Training Institute (CVRTI), University of Utah School of Medicine, 95 S 2000 E, Salt Lake City, UT 84112, USA.
Heart failure with preserved ejection fraction (HFpEF) is increasing at an alarming rate worldwide, with limited effective therapeutic interventions in patients. Sudden cardiac death (SCD) and ventricular arrhythmias present substantial risks for the prognosis of these patients. Obesity is a risk factor for HFpEF and life-threatening arrhythmias.
View Article and Find Full Text PDFChildren (Basel)
December 2024
Division of Pediatric Neurology, Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Infantile spasms are common in Down Syndrome (DS), but the mechanisms by which DS predisposes to this devastating epilepsy syndrome are unclear. In general, neuronal excitability and therefore seizure predisposition results from an imbalance of excitation over inhibition in neurons and neural networks of the brain. Animal models provide clues to mechanisms and thereby provide potential therapeutic approaches.
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