Fear of cancer recurrence in breast cancer survivors carrying a BRCA1/2 mutation: A qualitative study.

Background: There is preliminary evidence suggesting that FCR is a major problem for breast cancer survivors carrying a BRCA1/2 mutation. The goal of this qualitative study, conducted among women who were treated for breast cancer, was to provide a deeper understanding of how FCR is experienced in the context of a genetic predisposition to breast cancer.

Method: Three focus groups (90-110 min) were conducted with 19 breast cancer survivors carrying a BRCA1/2 mutation.

Cytokine profiling, pretreatment with anakinra, and tolerance development in platinum-induced mixed hypersensitivity reactions.

Background: Cytokine-release reactions (CRR) induced by platinum-based chemotherapy, manifesting with fever, chills, and rigors, are poorly understood and not easily prevented by usual premedication or desensitization.

Objective: To gain a better understanding of platinum-induced CRR and to explore the use of anakinra as a tool to prevent its clinical manifestations.

Methods: A cytokine and chemokine panel was obtained before and after platinum infusion in 3 cases with a mixed (immunoglobulin E-mediated and CRR) platinum-induced hypersensitivity reaction and in 5 controls either tolerant or with an immunoglobulin E-mediated platinum-induced hypersensitivity reaction.

Differentiation of Common Variable Immunodeficiency From IgG Deficiency.

Background: Common variable immunodeficiency (CVID) and IgG deficiency are 2 of the more prevalent primary humoral immune defects. The former is defined by consensus with criteria for quantitative and qualitative antibody defects, whereas the latter is used to describe patients with reduced IgG, who commonly have recurrent sinopulmonary infections but do not fulfill CVID criteria. However, these patients are often given this diagnosis.

Adjusting Pulse Amplitude During Transcutaneous Electrical Nerve Stimulation Does Not Provide Greater Hypoalgesia.

Objectives: Transcutaneous electrical nerve stimulation (TENS) is an electrotherapeutic modality commonly used in rehabilitation to relieve pain. Adjusting pulse amplitude (intensity) during TENS treatment has been suggested to overcome nerve habituation. However, it is still unclear if this procedure leads to greater hypoalgesia.

Consultation with registered dietitian to prevent accidental reactions to food: insight from an egg allergy influenza vaccination cohort.

Egg is an ubiquitous allergen found in many food products. Current food allergy guidelines recognize the importance of consultation with a registered dietitian to ensure nutritional adequacy. However, there is a lack of evidence on its impact on the implementation of allergen avoidance strategies.

Making molehills out of a mountain: experience with a new scheduling strategy to diminish workload variations in response to increased treatment demands.

Purpose: A new scheduling strategy was implemented. Before implementation, treatments and planning computed tomography (ct) imaging were both scheduled at the same time. Maximal wait times for treatment are defined by the Quebec Ministry of Health's plan of action according to treatment aim and site.

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.

Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However, success in dissecting the genetic etiology of common variable immunodeficiency (CVID) has been limited. We outline a practical framework for using WES to identify causative genetic defects in these subjects.

Lean management: innovative tools for engaging teams in continuous quality improvement.

Lean management has proven to be a sustainable method to ensure a high level of patient care through innovation and teamwork. It involves a set of six tools that allow for visual management shared among team members. The team focuses their efforts on the improvement of organizational indicators in a standardized and engaging way, resulting in the sustainability of improvements.

Identification of genes regulated by the EWS/NR4A3 fusion protein in extraskeletal myxoid chondrosarcoma.

Approximately 75 % of extraskeletal myxoid chondrosarcoma tumors (EMC) harbor a t(9;22) chromosome translocation generating an EWS/NR4A3 fusion protein that is thought to be instrumental in the tumoral process. Current evidence suggests that one function of the fusion protein is to overexpress target genes. We have generated an in vitro human cellular model in which the fusion protein is expressed in mesenchymal bone marrow stem cells.

p21(WAF1/CIP1) upregulation through the stress granule-associated protein CUGBP1 confers resistance to bortezomib-mediated apoptosis.

Background: p21(WAF1/CIP1) is a well known cyclin-dependent kinase inhibitor induced by various stress stimuli. Depending on the stress applied, p21 upregulation can either promote apoptosis or prevent against apoptotic injury. The stress-mediated induction of p21 involves not only its transcriptional activation but also its posttranscriptional regulation, mainly through stabilization of p21 mRNA levels.

Clinical utility and prognostic value of bronchoalveolar lavage galactomannan in patients with hematologic malignancies.

We conducted a single-center retrospective cohort study to determine the performance characteristics of the galactomannan (GM) assay in bronchoalveolar lavage (BAL) in patients with hematologic malignancies. Patients were classified as proven, probable, possible, or no invasive pulmonary aspergillosis (IPA), according to international guidelines. A total of 173 BAL samples from 145 patients were included.

The EWSR1/NR4A3 fusion protein of extraskeletal myxoid chondrosarcoma activates the PPARG nuclear receptor gene.

The NR4A3 nuclear receptor is implicated in the development of extraskeletal myxoid chondrosarcoma (EMC), primitive sarcoma unrelated to conventional chondrosarcomas, through a specific fusion with EWSR1 resulting in an aberrant fusion protein that is thought to disrupt the transcriptional regulation of specific target genes. We performed an expression microarray analysis of EMC tumours expressing the EWSR1/NR4A3 fusion protein, comparing their expression profiles to those of other sarcoma types. We thereby identified a set of genes significantly overexpressed in EMC relative to other sarcomas, including PPARG and NDRG2.

Serum- and glucocorticoid-regulated kinase 1 (SGK1) induction by the EWS/NOR1(NR4A3) fusion protein.

The NR4A3 nuclear receptor (also known as NOR1) is involved in tumorigenesis by the t(9;22) chromosome translocation encoding the EWS/NOR1 fusion protein found in approximately 75% of all cases of extraskeletal myxoid chondrosarcomas (EMC). Several observations suggest that one role of EWS/NOR1 in tumorigenesis may be to deregulate the expression of specific target genes. We have shown previously that constitutive expression of EWS/NOR1 in CFK2 fetal rat chondrogenic cells induces their transformation as measured by growth beyond confluency and growth in soft agar.

Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.

Holoprosencephaly (HPE) is a relatively common brain malformation resulting in an incomplete separation of the two cerebral hemispheres. A number of mutations in different genes have been linked to this malformation, including three missense mutations in the homeodomain of the transcription factor SIX3. In this study, we investigated the functional consequences of these SIX3 mutations with respect to the ability of the protein to interact with and stimulate the transcriptional activity of the nuclear receptor NOR1 (NR4A3).

The oncogenic fusion protein EWS/NOR-1 induces transformation of CFK2 chondrogenic cells.

The EWS/NOR-1 fusion protein is encoded by the t(9;22) chromosomal translocation found in approximately 75% of extraskeletal myxoid chondrosarcoma (EMC) tumors. The lack of cellular models in which the oncogenic properties of this fusion protein are expressed has seriously hampered the study of its role in the development of EMC. To generate such a cellular model, we have used the chondrogenic cell line CFK2.

The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomas.

Nuclear receptors represent a large family of transcription factors involved in development, differentiation, homeostasis, and cancer. In recent years, a growing number of cofactors has been discovered that participate in the regulation of the transcriptional activity of these proteins. We present in this study the identification of a cofactor, the homeotic protein Six3, which differentially regulates the transcriptional activity of the orphan nuclear receptor NOR-1 (NR4A3).

Trapping of messenger RNA by Fragile X Mental Retardation protein into cytoplasmic granules induces translation repression.

Absence of Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein, is responsible for the Fragile X syndrome, the most common form of inherited mental retardation. FMRP is a cytoplasmic protein associated with mRNP complexes containing poly(A)+mRNA. As a step towards understanding FMRP function(s), we have established the immortal STEK Fmr1 KO cell line and showed by transfection assays with FMR1-expressing vectors that newly synthesized FMRP accumulates into cytoplasmic granules.

The AF2 domain of the orphan nuclear receptor TEC is essential for the transcriptional activity of the oncogenic fusion protein EWS/TEC.

The EWS/TEC fusion protein encoded by the t(9:22) chromosomal translocation in human extraskeletal myxoid chondrosarcoma tumors is thought to participate in the tumoral process at least in part by deregulating the expression of specific target genes involved in the control of cell proliferation. In this work we show that the activation function-2 (AF2) domain of TEC is essential for the transcriptional activity of the EWS/TEC fusion protein. Significantly, deleting only the last 15 amino acids of the fusion protein, which contains 949 amino acids in its full form, results in a loss of over 70% of its transcriptional activity in transfected human chondrocyte cell lines.

Can monkeys (Macaca mulatta) represent invisible displacement?

Four experiments were conducted to assess whether or not rhesus macaques (Macaca mulatta) could represent the unperceived movements of a stimulus. Subjects were tested on 2 computerized tasks, HOLE (monkeys) and LASER (humans and monkeys), in which subjects needed to chase or shoot at, respectively, a moving target that either remained visible or became invisible for a portion of its path of movement. Response patterns were analyzed and compared between target-visible and target-invisible conditions.

Epstein-Barr virus infection in the neonatal period and in childhood.

In an attempt to detect and characterize congenital, neonatal and early childhood EBV infections, a prospective sero-epidemiological study was undertaken in 112 newborn infants and their mothers, 25 additional newborns undergoing exchange transfusion, 114 randomly selected hospitalized infants aged 0 to 3 years, and 109 siblings and parents of these infants. Leukocyte culture was attempted in all the newborns and in 25 pre- and post-transfusion.The findings of EBV seroconversion in six patients without clearly apparent illness, infectious mononucleosis in only one case with significant EBV antibody rise, seroreversion in three cases in early childhood, higher newborn than maternal EBV antibody titres in three cases and the establishment of two permanent lymphoblastoid cell lines from newborns following exchange transfusion raise the possibility of abortive primary EBV infection in early life.