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The functional success rate of the ileoanal reservoir procedure for ulcerative colitis is quite high. Despite the few early and late complications described there is now wide-spread acceptance of this procedure in the management of ulcerative colitis. We report a patient who developed an adenocarcinoma in the rectal cuff four years after having a pelvic(More)
A rare variant in the Triggering Receptor Expressed on Myeloid cells 2 (TREM2) gene has been reported to be a genetic risk factor for Alzheimer’s disease by two independent groups (Odds ratio between 2.9-4.5). Given the key role of TREM2 in the effective phagocytosis of apoptotic neuronal cells by microglia, we hypothesized that dysfunction of TREM2 may(More)
OBJECTIVE To identify potential genetic modifiers contributing to the phenotypic variability that is detected in patients with repeat expansions in chromosome 9 open reading frame 72 (C9ORF72), we investigated the frequency of these expansions in a cohort of 334 subjects previously found to carry mutations in genes known to be associated with a spectrum of(More)
OBJECTIVES Ventilation with positive end-expiratory pressure (PEEP) above the inflection point (P(inf)) has been shown to reduce lung injury by recruiting previously closed alveolar regions; however, it carries the risk of hyperinflating the lungs. The present study examined the hypothesis that a new strategy of recruiting the lung with a sustained(More)
High concentrations of neutrophil defensins from airway and blood have been reported in patients with inflammatory lung diseases, but their exact role is unclear. We investigated the direct effect of defensins on the lungs of mice. Intratracheal instillation of purified defensins (5-30 mg/kg) induced a progressive reduction in peripheral arterial O(2)(More)
This review details pertinent anatomical, radiological, pathological, and clinical information regarding primary anterior mediastinal tumors. Although the majority of these lesions are included in one of several subgroups, for example, thymic tumors, teratomas, or thyroid abnormalities, other less common entities will occasionally be encountered by the(More)
Variants in transmembrane protein 106 B (TMEM106B) modify the disease penetrance of frontotemporal dementia (FTD) in carriers of progranulin (GRN) mutations. We investigated whether TMEM106B is also a genetic modifier of disease in carriers of chromosome 9 open reading frame 72 (C9ORF72) expansions. We assessed the genotype of 325 C9ORF72 expansion carriers(More)
Umbilical artery Doppler studies were performed close to delivery in 17 women (seven with healthy pregnancies and 10 complicated by intrauterine growth retardation), and results were analyzed by calculating the pulsatility index. In each case the placenta was examined histologically, and the small arteries and arterioles were counted in the tertiary stem(More)
Repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are an important cause of both motor neuron disease (MND) and frontotemporal dementia (FTD). Currently, little is known about factors that could account for the phenotypic heterogeneity detected in C9ORF72 expansion carriers. In this study, we investigated 4 genes that could represent genetic(More)