The sharing of patient data, such as test results, is important for appropriately treating patients. Inclusion of this data allows for clinical error prevention, particularly if a new clinician becomes involved. If genetic information, including family history or genetic test results, is not accessible to treating physicians, care may suffer. Innovation is needed to address the problem of lack of access to important data, such as genomic test results, not structured to fit into an EHR. Without data integration care will, and does suffer. Innovations, albeit long in the making (Blatt, 2013), are improving the care of patients. The next step forward is better utilization of available information, including genomic test results.
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http://dx.doi.org/10.1016/j.atg.2014.09.007 | DOI Listing |
Background: Alport syndrome (AS) is a multifaceted condition that primarily affects the basement membranes of the kidneys, ears, and eyes. AS is considered the second most common cause of hereditary renal failure, exhibiting varied clinical manifestations across different lifespans. The aim of this study is to investigate the clinical features and genetic profile of AS and to elucidate the genotype-phenotype correlation of AS.
View Article and Find Full Text PDFA large fraction of the genome interacts with the nuclear periphery through lamina-associated domains (LADs), repressive regions which play an important role in genome organization and gene regulation across development. Despite much work, LAD structure and regulation are not fully understood, and a mounting number of studies have identified numerous genetic and epigenetic differences within LADs, demonstrating they are not a uniform group. Here we profile Lamin B1, HP1β, H3K9me3, H3K9me2, H3K27me3, H3K14ac, H3K27ac, and H3K9ac in MEF cell lines derived from the same mouse colony and cluster LADs based on the abundance and distribution of these features across LADs.
View Article and Find Full Text PDFExcess lipid droplet (LD) accumulation is associated with several pathological states, including Alzheimer's disease (AD). However, the mechanism(s) by which changes in LD composition and dynamics contribute to pathophysiology of these disorders remains unclear. Apolipoprotein E (ApoE) is a droplet associated protein with a common risk variant (E4) that confers the largest increase in genetic risk for late-onset AD.
View Article and Find Full Text PDFJ Cereb Blood Flow Metab
January 2025
Sheffield Institute for Translational Neuroscience, Division of Neuroscience, School of Medicine and Population Heath, University of Sheffield, Sheffield, UK.
Functional brain changes such as altered cerebral blood flow occur long before the onset of clinical symptoms in Alzheimer's disease (AD) and other neurodegenerative disorders. While cerebral hypoperfusion occurs in established AD, middle-aged carriers of genetic risk factors for AD, including APOE ε4, display regional hyperperfusion due to hypothesised pleiotropic or compensatory effects, representing a possible early biomarker of AD and facilitating earlier AD diagnosis. However, it is not clear whether hyperperfusion already exists even earlier in life.
View Article and Find Full Text PDFJ Pediatr Gastroenterol Nutr
January 2025
Department of Pathology and Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, Jordan.
Objectives: Wilson disease (WD) is an autosomal-recessive disorder that disrupts copper homeostasis. ATPase copper transporting beta (ATP7B) gene is implicated as the disease-causing gene in WD. The common symptoms associated with WD include hepatic, neurological, psychiatric, and ophthalmic manifestations.
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