“
“Familial Alzheimer’s disease (AD) due to PSEN1 mutations provides an opportunity to examine AD biomarkers in persons in whom the diagnosis is certain. We describe a 55 year-old woman with clinically probable AD and a novel PSEN1 mutation who underwent genetic, clinical, biochemical and magnetic resonance and nuclear imaging assessments. We also describe neuropathological findings in her similarly affected brother. Neuropsychological

NU7441 testing confirmed deficits in memory, visuospatial and language function. CSF t-tau and p-tau181 were markedly elevated and A beta(42) levels reduced. FDG-PET revealed hypometabolism in the left parietotemporal cortex. FDDNP-PET showed increased binding of tracer in medial temporal and parietal lobes and in the head of the caudate and anterior putamen bilaterally. Neuropathological examination of her brother showed the typical findings of AD and the striatum demonstrated amyloid pathology and marked neurofibrillary pathology beyond that typically seen in late-onset AD. A novel S212Y substitution in PSEN1 was present in the index patient and her affected brother but not in an older unaffected sister. An in vitro assay in which the S212Y mutation was introduced in cell culture confirmed that it was associated with increased production of A beta(42). We describe biochemical, imaging, and neuropathological changes in a pedigree with a novel PSEN1 mutation.

This allows us to validate the pathogenicity of this mutation and the indices used to assess AD. (C) 2010 Elsevier Ireland Ltd. All rights reserved.”
“Purpose: Chylous ascites is a rare complication after WZB117 nmr major retroperitoneal surgery. Recently selleck screening library chylous ascites has developed more often after laparoscopic nephrectomy since that is increasingly done for various indications at many centers. We reviewed our cases of chylous ascites

after laparoscopic nephrectomy.

Materials and Methods: Between January 2002 and December 2008 we performed 622 transperitoneal laparoscopic nephrectomies. We retrospectively analyzed factors related to chylous ascites as a complication of laparoscopic nephrectomy.

Results: The overall incidence of chylous ascites was 5.1% (32 of 622 cases), including 4 severe refractory cases (0.6%). The difference in incidence by operation type was not statistically different (p = 0.251). Chylous ascites developed more often after left than right nephrectomy (7.3% or 25 of 343 cases vs 2.5% or 7 of 279, p = 0.010). In patients with radical nephrectomy and nephroureterectomy the incidence was higher in those who did vs did not undergo lymphadenectomy (13.9% or 10 of 72 vs 4.0% or 11 of 275, p = 0.027). Only 1 patient underwent explorative laparotomy due to persistent severe chylous ascites despite 8-week conservative management. The other cases were successfully managed conservatively by total parenteral nutrition and a low fat diet.