Traumatic lumbar hernias are rare but important injuries to diagnose in blunt abdominal trauma, both because of delayed complications of the hernia itself and because of well-documented association with bowel and mesenteric injuries. No study to our knowledge has determined whether specific features of the hernia-size of the wall defect, inferior or superior location, or the side of the hernia-bear any predictive value on the presence of underlying bowel and mesenteric injury. A retrospective query of the radiology information system yielded 21 patients with lumbar hernias which were diagnosed on CT.
View Article and Find Full Text PDFBackground: Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and mental retardation. TGFBR2 mutations can also cause TAAD in the absence of features of LDS in large multigenerational families, yet only sporadic LDS cases or parent-child pairs with TGFBR1 mutations have been reported to date.
Methods: The authors identified TGFBR1 missense mutations in multigenerational families with TAAD by DNA sequencing.