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http://dx.doi.org/10.1055/a-2129-7869 | DOI Listing |
Pharmacogenomics is central to precision medicine, informing medication safety and efficacy. Pharmacogenomic diplotyping of complex genes requires full-length DNA sequences and detection of structural rearrangements. We introduce StarPhase, a tool that leverages PacBio HiFi sequence data to diplotype 21 CPIC Level A pharmacogenes and provides detailed haplotypes and supporting visualizations for HLA-A, HLA-B, and CYP2D6.
View Article and Find Full Text PDFBrain Commun
November 2024
Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC Location VUmc, 1081 HZ Amsterdam, The Netherlands.
Understanding the nature and onset of neurophysiological changes, and the selective vulnerability of central hub regions in the functional network, may aid in managing the growing impact of Alzheimer's disease on society. However, the precise neurophysiological alterations occurring in the pre-clinical stage of human Alzheimer's disease remain controversial. This study aims to provide increased insights on quantitative neurophysiological alterations during a true early stage of Alzheimer's disease.
View Article and Find Full Text PDFInt J Cardiol Congenit Heart Dis
December 2024
Service of Cardiology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Background: Patients with congenital heart disease (CHD) often require an oral anticoagulation. Vitamin K antagonists (VKA) are the standard treatment, however, an increased hematocrit in patients with secondary erythrocytosis due to cyanosis complicates the correct measurement of the international normalized ratio. Direct oral anticoagulants (DOAC) could be an alternative, but data on their efficacy and safety in complex and cyanotic CHD patients are scarce.
View Article and Find Full Text PDFCureus
November 2024
Neurology, Mayo Clinic, Rochester, USA.
While earlier post-mortem studies show involvement of the central nervous system in 71% of patients with chronic lymphocytic leukemia (CLL), involvement intravitam is rare. A 72-year-old man with untreated, minimally symptomatic CLL developed subacute-onset encephalopathy and presented with severe hyponatremia and stress-induced cardiomyopathy. His initial head computed tomography scan was unremarkable.
View Article and Find Full Text PDFSAGE Open Nurs
December 2024
Faculty of Nursing, Universitas Airlangga, Surabaya, Indonesia.
Introduction: Pregnancy can cause various physical and physiological changes. It affects confidence, resulting in depression and disturbing health not only for a mother but also for her fetus. These will also determine the ability of the mother to take care of her baby after delivery.
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