[Treatment of complex aortic aneurysms with fenestrated endografts--first results]. / Behandlung komplexer Aortenaneurysmen mittels fenestrierter Endoprothese--eine erste Bilanz.

BACKGROUND: The continuous development of endografts allows the treatment of complex aneurysms including the renovisceral and thoracoabdominal aortic segment with fenestrated and branched systems. Long-term follow-up studies of the endovascular method do not exist so far. The intention of this retrospective study is to analyse the long-term benefit of this technique. METHOD/PATIENTS: We included 61 patients in this study, who were treated with fenestrated or branched endografts from August 2001 until December 2007 because of abdominal or thoracoabdominal aneurysms. The 56 males and 5 females--73±8 years old--were mostly classified as high-risk patients (72% ASA III, 13% ASA VI). All patients underwent clinical follow-up examination and a CT scan. In 60 cases (98%) the endograft was implanted by a percutaneous technique. 85% of the operations could be done under local or regional anaesthesia. In total we integrated 139 renal and visceral vessels in the grafts. RESULTS: The 30-day mortality rate was 0%. During the postoperative days until discharge we documented general--especially cardiac and pulmonary--complications in 16% of the cases. After a mean follow-up time of 27 months (8-84 months) the late mortality rate was 21.3% (n=13). The aneurysm-related mortality rate was 4.9% (n=3). The endoleak rate was 6.6% (n=4). During the follow-up time 7 patients permanently became dialysis dependent (11%). The main reasons were acute progressions of chronic renal insufficiency after contrast administration (n=2) and device fractures of bare metal stents. CONCLUSION: The results of this study show the feasibility of endovascular treatment of complex aortic aneurysms even in multimorbid patients with minor postoperative mortality and morbidity. One essential factor for success is a strict patient selection on the basis of anatomic criteria and the use of durable stent material (covered stent grafts as a bridging device).

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).

We describe a new congenital disorder of glycosylation, CDG-If. The patient has severe psychomotor retardation, seizures, failure to thrive, dry skin and scaling with erythroderma, and impaired vision. CDG-If is caused by a defect in the gene MPDU1, the human homologue of hamster Lec35, and is the first disorder to affect the use, rather than the biosynthesis, of donor substrates for lipid-linked oligosaccharides. This leads to the synthesis of incomplete and poorly transferred precursor oligosaccharides lacking both mannose and glucose residues. The patient has a homozygous point mutation (221T-->C, L74S) in a semiconserved amino acid of MPDU1. Chinese hamster ovary Lec35 cells lack a functional Lec35 gene and synthesize truncated lipid-linked oligosaccharides similar to the patient's. They lack glucose and mannose residues donated by Glc-P-Dol and Man-P-Dol. Transfection with the normal human MPDU1 allele nearly completely restores normal glycosylation, whereas transfection with the patient's MPDU1 allele only weakly restores normal glycosylation. This work provides a new clinical picture for another CDG that may involve synthesis of multiple types of glycoconjugates.