Bianca Mullen

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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)
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)
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)
This analysis summarizes studies comparing attained heights with expected heights of children with asthma treated with inhaled or oral corticosteroids. The possible moderating effects of treatment duration, and dosage and asthma severity are also examined. A preliminary database of 95 articles rendered 21 includable studies representing 810 patients with(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)
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)
Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are causative for frontotemporal dementia (FTD) and motor neuron disease (MND). Substantial phenotypic heterogeneity has been described in patients with these expansions. We set out to identify genetic modifiers of disease risk, age at onset, and survival after onset that may(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)
Bacillus Calmette-Guérin (BCG) is an attenuated strain of Mycobacterium bovis that has been used in the treatment of malignant disease for over 20 years and for the treatment of bladder cancer since 1976. Major complications of this treatment are infrequent. We report two cases of systemic illness with pulmonary manifestations after treatment with(More)
OBJECTIVES The purpose of this investigation was to provide an empirical summary of the evidence regarding the association between beta-agonist use and death from asthma. This effort integrated the results of case-control studies that examined the use of beta-agonists among asthmatic patients who died and the use of beta-agonists among asthmatic patients(More)