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Anat Sci Int
January 2025
Department of Anatomy, The Nippon Dental University School of Life Dentistry at Niigata, Niigata, Japan.
This case report presents an atypical transverse cervical artery with its detailed anatomy, morphogenesis, and association with the high arch-shaped subclavian artery. The atypical arteries, related arteries, and adjacent cervical and brachial plexuses were macroscopically examined in a 98-year-old Japanese female cadaver donated to The Nippon Dental University for medical education and research. The atypical deep branch of the transverse cervical artery originated from the internal thoracic artery and passed through between the C5 and C6 roots, in close contact with the C5 and C6 junction, to reach the dorsal side of the brachial plexus.
View Article and Find Full Text PDFEur J Hum Genet
January 2025
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
The etiology of congenital heart disease (CHD) is complex, comprising both genetic and environmental factors. Despite documented familial occurrences, the genetic etiology remains largely elusive. Trio exome sequencing identified a heterozygous FLT4 splice site variant in two families with respectively tetralogy of Fallot (TOF), and variable CHD comprising both the TOF spectrum and aortic coarctation.
View Article and Find Full Text PDFMicrosurgery
January 2025
Plastic, Reconstructive, and Aesthetic Surgery Unit, Nantes University Hospital, Nantes, France.
Introduction: Reconstructing large bone defects for lower limb salvage in the pediatric population remains challenging due to complex oncological or septic issues, limited surgical options, and lengthy procedures prone to complications. The vascularized double-barreled fibula free flap is pivotal for reconstructing large bones. In this article, we report our experience with this technique in the surgical management of pediatric tibial bone defects.
View Article and Find Full Text PDFHamostaseologie
January 2025
Center for Thrombosis and Hemostasis, University Medical Center Mainz, Mainz, Germany.
Congenital platelet disorders are rare and targeted treatment is usually not possible. Inherited platelet function disorders (iPFDs) can affect surface receptors and multiple platelet responses such as defects of platelet granules, signal transduction, and procoagulant activity. If iPFDs are also associated with a reduced platelet count (thrombocytopenia), it is not uncommon to be misdiagnosed as immune thrombocytopenia.
View Article and Find Full Text PDFEndocrinol Diabetes Metab Case Rep
January 2025
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.
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