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New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience.
Front Endocrinol (Lausanne)
January 2025
Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Naples, Italy.
Familial hypercholesterolemia (FH) is a genetic disease, usually with onset during childhood, characterized by elevated blood LDL cholesterol levels and potentially associated with severe cardiovascular complications. Concerning mutated genes in FH, such as , a small subset of FH patients presents a homozygous genotype, resulting in homozygous FH (HoFH) disease with a generally aggressive phenotype. Besides statins, ezetimibe and PCSK9 inhibitors, lomitapide (an anti-ApoB therapy) was also approved in 2012-2013 as an adjunctive treatment for HoFH.
View Article and Find Full Text PDFInheritance of Imaging Parameters of Arrhythmic Risk in Mitral Valve Prolapse: A Pedigree Study.
Circ Cardiovasc Imaging
January 2025
Division of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).
Background: A subset of patients with mitral valve prolapse (MVP), a highly heritable condition, experience sudden cardiac arrest (SCA) or sudden cardiac death (SCD). However, the inheritance of phenotypic imaging features of arrhythmic MVP remains unknown.
Methods: We recruited 23 MVP probands, including 9 with SCA/SCD and 14 with frequent/complex ventricular ectopy.
SHORT AND CROOKED AWN, Encoding an Epigenetic Regulator EMF1, Promotes Barley Awn Development.
Plant Cell Physiol
December 2024
Institute of Plant Science and Resources, Okayama University, Kurashiki, 710-0046, Japan.
The awn is a bristle-like extension from the lemma of grass spikelets. In barley, the predominant cultivars possess long awns that contribute to grain yield and quality through photosynthesis. Barley is a useful cereal crop to investigate the mechanism of awn development as various awn morphological mutants are available.
View Article and Find Full Text PDFUltra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings.
J Hum Genet
December 2024
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Sex chromosome aneuploidies (SCA) such as Turner, Klinefelter, Jacobs, and Trisomy X syndromes are prevalent genetic disorders with well-established phenotypes. Challenges persist, however, in determining the need for further genetic evaluation in cases of affected individuals exhibiting atypical symptoms. The present study retrospectively examined 54 pediatric patients with an SCA diagnosis at a single institution between January 2015 and December 2023.
View Article and Find Full Text PDFCopy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics.
Biomolecules
November 2024
Cardiogenetic Center, Rare Diseases and Medical Genetics Units, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Inherited cardiac channelopathies are major causes of sudden cardiac death (SCD) in young people. Genetic testing is focused on the identification of single-nucleotide variants (SNVs) by Next-Generation Sequencing (NGS). However, genetically elusive cases can carry copy number variants (CNVs), which need specific detection tools.
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