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Brain calcification in Congenital Heart Defects and Ectodermal Dysplasia (CHDED).
Eur J Med Genet
December 2024
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address:
Congenital Heart Defect and Ectodermal Dysplasia (CHDED) is an autosomal dominant disorder caused by the PRKD1 gene. CHDED is characterized by heart defects and ectodermal dysplasia. To date, eight patients with CHDED have been described.
View Article and Find Full Text PDFAtypical angioid streaks in a patient with a monoallelic mutation.
Ophthalmic Genet
December 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida, USA.
Background: Pseudoxanthoma elasticum (PXE) is characterized by aberrant calcification of elastic tissues throughout the body causing varying degrees of skin, cardiac, and ocular disease. Although PXE is classically regarded as an autosomal recessive disease, recent reports have demonstrated a haploinsufficiency phenotype, in which carriers of monoallelic ATP-binding cassette transporter () gene mutations demonstrate mild manifestations of PXE. In this case report, we describe a patient with a monoallelic mutation and atypical angioid streaks.
View Article and Find Full Text PDFNavigating diagnostic uncertainty in fahr's disease: a case report with neuroimaging correlations.
Radiol Case Rep
February 2025
Department of Psychiatry, Datta Meghe Institute of Medical Sciences, Sawangi, Wardha, Maharashtra, India 442001.
Fahr's disease is a rare neurological disorder which is characterized by the presence of abnormal, symmetrical, and bilateral calcifications within the basal ganglia and other cerebral areas. Seizures are 1 of the symptoms that may aid in its diagnosis. Fahr's disease is diagnosed in adults mostly.
View Article and Find Full Text PDFMultiple Bilateral Parotid Calcifications in a Patient with Sjögren's Syndrome: A Case Report.
J Dent (Shiraz)
December 2024
Dept. of Oral and Maxillofacial Medicine, School of Dentistry, Alborz University of Medical Sciences, Karaj, Iran.
This study investigates the calcifications in the parotid glands of a patient with Sjögren's syndrome (SS). A 52-year-old female patient presented for a routine dental examination who found to have multiple radiopacities in both parotid glands on panoramic radiograph. Further evaluation revealed swelling and tenderness in the parotid glands, decayed teeth, and dryness of the mouth and eyes.
View Article and Find Full Text PDFComparison of Bending Properties in Paired Human Ribs with and without Costal Cartilage.
Stapp Car Crash J
December 2024
Injury Biomechanics Research Center, The Ohio State University.
Thoracic injuries, most frequently rib fractures, commonly occur in motor vehicle crashes. With an increased reliance on human body models (HBMs) for injury prediction in various crash scenarios, all thoracic tissues and structures require more comprehensive evaluation for improvement of HBMs. The objective of this study was to quantify the contribution of costal cartilage to whole rib bending properties in physical experiments.
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