We successfully treated a patient with homozygous familial hypercholesterolemia (HoFH) with stable coronary arterial disease using optimal medical therapy and low-density lipoprotein (LDL) apheresis for 16 years without percutaneous coronary intervention or bypass surgery. Intensive LDL lowering using apheresis and medication protected the patient from coronary atherosclerotic progression even in HoFH.
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| http://dx.doi.org/10.1002/ccr3.2299 | DOI Listing |
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Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.
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January 2025
Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-Ku, Tokyo, 152-8902, Japan.
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.
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January 2025
Department of Transfusion Medicine, The Affiliated Taizhou People's Hospital of Nanjing Medical University, Taizhou 225300, Jiangsu, China. Electronic address:
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Homozygous Familial Hypercholesterolemia Treatment: New Developments.
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Carbohydrate and Lipid Metabolism Research Unit, Department of Medicine, University of the Witwatersrand, Johannesburg, South Africa.
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Alzheimers Dement
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Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA.
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