Nat Genet
Department of Medicine, Veterans Affairs Medical Center, University of California San Diego, 3350 La Jolla Village Drive, La Jolla, California 92161, USA.
Published: August 2003
Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. We analyzed affected individuals from 11 unrelated kindreds and found that IIAC was associated with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This cell surface enzyme generates inorganic pyrophosphate (PP(i)), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification.
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http://dx.doi.org/10.1038/ng1221 | DOI Listing |
Eur Heart J
January 2025
Department of Primary Care and Public Health, Imperial Centre for Cardiovascular Disease Prevention, School of Public Health, Imperial College London, White City Campus, 90 Wood Lane, London W12 0BZ, UK.
Background And Aims: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population, but their prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and whether they confer additional risk of ASCVD independent of LDL cholesterol (LDL-C) remains unclear.
Methods: Cross-sectional analysis was conducted in 35 540 patients with HeFH across 50 countries, in the EAS FH Studies Collaboration registry. Prevalence of World Health Organization-defined body mass index categories was investigated in adults (n = 29 265) and children/adolescents (n = 6275); and their association with prevalent ASCVD.
AJNR Am J Neuroradiol
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Department of Pediatric Radiology and Neuroradiology (C.D., F.A., C.P., A.R.), Children's Hospital V. Buzzi, Milan, Italy.
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is an uncommon condition represented by an infantile-onset disorder, frequently arising from heterozygous mutations in the gene. Individuals with GLUT1-DS may present with early-onset seizures (typically manifesting before 4 years of age), developmental delay, and complex movement disorders. In fewer cases, stroke-like events or hemiplegic migraine-like symptoms are also reported, defined by unilateral paresis affecting 1 side of the body and/or one-half of the face, occasionally accompanied by speech impairment.
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View Article and Find Full Text PDFNeurol India
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Department of Neurosurgery, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China.
Infantile dural arteriovenous fistula (IDAVF) is a rare complex dural arteriovenous fistulas. This study is to provide a comprehensive understanding of the angioarchitecture of arteriovenous shunts in IDAVFs and planning endovascular treatment. Five cases of IDAVF and a literature review were analyzed to characterize the shunt patterns of IDAVFs in terms of anatomic relations to the arterial feeder, sinuses, and cortical veins.
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School of Medicine, Promise Department of Health Promotion Sciences Maternal and Infantile Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.
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