PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome.

Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the PTCH1 gene. PTCH1 is known to have different isoforms with different functional properties and expression patterns among tissues. We detected a novel, pathogenic de novo mutation in PTCH1 isoform 1b (c.

Comparison of magnetic resonance with computed tomography angiography for preoperative localization of the Adamkiewicz artery in thoracoabdominal aortic aneurysm patients.

Objective: Preoperative localization of the Adamkiewicz artery and its segmental supplier in advance of thoracic aortic aneurysm (TAA) and thoracoabdominal aortic aneurysm (TAAA) repair is proposed to be useful to prevent postoperative paraplegia. The diagnostic potential of magnetic resonance angiography (MRA) and computed tomography angiography (CTA) was evaluated for the preoperative localization of the Adamkiewicz artery in white TAAA patients.

Methods: Thirty-nine consecutive patients with a TAA(A) scheduled for elective open surgical aortic repair preoperatively underwent MRA and CTA.