Search results for "pair"
showing 10 items of 2908 documents
Incident colorectal cancer in Lynch syndrome is usually not preceded by compromised quality of colonoscopy
2019
AbstractBackground: Lifetime incidence of colorectal cancer (CRC) especially in carriers of MLH1 and MSH2 pathogenic germline variants in mismatch repair genes is high despite ongoing colonoscopy s...
Chromosomal changes in renal oncocytomas Evidence that t(5;11)(q35;q13) may characterize a second subgroup of oncocytomas
1995
Many of the reported oncocytomas have different chromosome abnormalities, indicating that they comprise a cytogenetically heterogenous group of tumors consisting of potentially cytogenetic subgroups. We have performed cytogenetic studies on nine renal oncocytomas. Clonal abnormalities were present in eight tumors. The findings most observed were the loss of the Y chromosome, and abnormalities of chromosomes 1 and 22. We also observed telomeric associations (tas) in two tumors and structural aberrations of chromosomes 9p and 19q, as well as monosomy 10. In two cases we found a similar reciprocal t(5;11)(q35;q13) in two cases. Review of the literature disclosed one other oncocytoma with a t(5…
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
2010
Summary Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein ( VCP ) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on…
Training Cognitive Functions Using Mobile Apps in Breast Cancer Patients: Systematic Review
2019
Background: Breast cancer is an invalidating disease and its treatment can bring serious side effects that have a physical and psychological impact. Specifically, cancer treatment generally has a strong impact on cognitive function. In recent years, new technologies and eHealth have had a growing influence on health care and innovative mobile apps can be useful tools to deliver cognitive exercise in the patient’s home. Objective: This systematic review gives an overview of the state-of-the-art mobile apps aimed at training cognitive functions to better understand whether these apps could be useful tools to counteract cognitive impairment in breast cancer patients. Methods: We searched in a …
Comparative genetic study of intratumoral heterogenous MYCN amplified neuroblastoma versus aggressive genetic profile neuroblastic tumors.
2016
Intratumoral heterogeneous MYCN amplification (hetMNA) is an unusual event in neuroblastoma with unascertained biological and clinical implications. Diagnosis is based on the detection of MYCN amplification surrounded by non-amplified tumor cells by fluorescence in situ hybridization (FISH). To better define the genetic features of hetMNA tumors, we studied the Spanish cohort of neuroblastic tumors by FISH and single nucleotide polymorphism arrays. We compared hetMNA tumors with homogeneous MNA (homMNA) and nonMNA tumors with 11q deletion (nonMNA w11q-). Of 1091 primary tumors, 28 were hetMNA by FISH. Intratumoral heterogeneity of 1p, 2p, 11q and 17q was closely associated with hetMNA tumor…
Deaf readers benefit from lexical feedback during orthographic processing
2019
Published: 23 August 2019 It has been proposed that poor reading abilities in deaf readers might be related to weak connections between the orthographic and lexical-semantic levels of processing. Here we used event related potentials (ERPs), known for their excellent time resolution, to examine whether lexical feedback modulates early orthographic processing. Twenty congenitally deaf readers made lexical decisions to target words and pseudowords. Each of those target stimuli could be preceded by a briefly presented matched-case or mismatched-case identity prime (e.g., ALTAR-ALTAR vs. altar- ALTAR). Results showed an early effect of case overlap at the N/P150 for all targets. Critically, thi…
In vitro model for DNA double‐strand break repair analysis in breast cancer reveals cell type–specific associations with age and prognosis
2016
Dysfunction of homologous recombination is a common denominator of changes associated with breast cancer-predisposing mutations. In our previous work, we identified a functional signature in peripheral blood lymphocytes from women who were predisposed that indicated a shift from homologous recombination to alternative, error-prone DNA double-strand break (DSB) repair pathways. To capture both hereditary and nonhereditary factors, we newly established a protocol for isolation and ex vivo analysis of epithelial cells, epithelial-mesenchymal transition cells (EMTs), and fibroblasts from breast cancer specimens (147 patients). By applying a fluorescence-based test system, we analyzed the error-…
Outcomes for adults with anorexia nervosa who do not respond early to outpatient treatment
2021
Objective: To better understand those patients with anorexia nervosa who do not show early response to treatment and are likely to have poorer outcome. Method: From an existing data set of 187 patients with anorexia nervosa across 22 eating disorder outpatient services in the United Kingdom, participants who had started treatment and had at least one body mass index (BMI) observation in the first 6 weeks of treatment were eligible for these secondary analyses (N = 65), a latent class analysis of BMI change over the first 6 weeks of treatment. Fifty-six patients showed no early change in BMI. We used logistic regression to examine predictors of good outcome in the 40 participants who had 12-…
Cognitive dysfunction in patients with relapsing-remitting multiple sclerosis
2006
Cognitive dysfunction is considered one of the clinical markers of multiple sclerosis (MS). However, in the literature there are inconsistent reports on the prevalence of cognitive dysfunction, and separate data for the relapsing-remitting (RR) type of the disease are not always presented. In this study, we submitted 461 RRMS patients to a battery of neuropsychological tests to investigate their impairment in various cognitive domains. As a consequence of the exclusion criteria, the sample is not fully representative of the entire population of RRMS patients. In this selected sample, when only the eight scores of a core battery (Mental Deterioration Battery) were considered (with respectiv…
Plasma granulysin levels and cellular interferon-gamma production correlate with curative host responses in tuberculosis, while plasma interferon-gam…
2007
Contains fulltext : 52707.pdf (Publisher’s version ) (Closed access) Granulysin is a recently identified cytolytic protein which is expressed by human cytotoxic T-lymphocytes and natural killer (NK)-cells, and has broad antimicrobial and tumoricidal activity. Circulating granulysin levels are associated with T- and NK-cell activity, and may thus reflect protection-associated cellular immune responses. In a case-control study in Indonesia, a highly tuberculosis (TB)-endemic country, we therefore determined plasma granulysin levels in adults with active pulmonary TB before, during, and after TB treatment, both in mild/moderate-TB and advanced-TB patients, and compared these to healthy neighbo…