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Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment. We report the results of a moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS. We performed whole-exome sequencing of 2869 ALS patients and 6405 controls. Several known ALS genes were found(More)
Axillofemoral grafts (144 prostheses: 103 unilateral, 25 bifemoral = y-shaped, and 8 bilateral) were performed in a total of 136 patients with aortoiliac occlusion. The average patient was 69 years old. Surgery was indicated only in "high-risk patients" in either stage II (n = 7; walking distance until onset of pain less than 50 m), stage III (n = 55), or(More)
OBJECTIVE To elucidate the functional consequences of epileptic encephalopathy-causing de novo mutations in DNM1 (A177P, K206N, G359A), which encodes a large mechanochemical GTPase essential for neuronal synaptic vesicle endocytosis. METHODS HeLa and COS-7 cells transfected with wild-type and mutant DNM1 constructs were used for transferrin assays,(More)
Infection involving vascular grafts still represents a problem. The incidence in the literature amounts to 1.6%, the amputation rate is about 30%, and lethality is about a quarter of the patients. Among 2,842 reconstructed vessels we had an incidence of 44 severe infections (1.5%) and among these a lethality of 27%.. Twenty-nine amputations were necessary,(More)
In 11 patients we investigated digestive, resorptive, and endocrine functions after pancreatico-duodenectomy. In order to improve the nutritional state of the patients after pancreatico-duodenectomy we performed the reconstruction of the upper alimentary tract with particular attention to the proximal jejunum. We observed: 1. unpaired fat digestion in all(More)
In 45 patients measurements were carried out on the first or second day after operation of the heart volume, the pressure in one central vein and one of the femoral arteries. In addition in some patients the pressure in the pulmonal artery was measured and the partial O2 and CO2 pressures in the various blood samples were determined. Normovolaemic patients(More)