Search results for "git"

Targeted next-generation sequencing of circulating-tumor DNA for tracking minimal residual disease in localized colon cancer.

2019

A high percentage of patients diagnosed with localized colon cancer (CC) will relapse after curative treatment. Although pathological staging currently guides our treatment decisions, there are no biomarkers determining minimal residual disease (MRD) and patients are at risk of being undertreated or even overtreated with chemotherapy in this setting. Circulating-tumor DNA (ctDNA) can to be a useful tool to better detect risk of relapse.One hundred and fifty patients diagnosed with localized CC were prospectively enrolled in our study. Tumor tissue from those patients was sequenced by a custom-targeted next-generation sequencing (NGS) panel to characterize somatic mutations. A minimum varian…

Polymorphism of the Transcription Factor 7-Like 2 Gene (TCF7L2) Interacts with Obesity on Type-2 Diabetes in the PREDIMED Study Emphasizing the Heter…

2016

Nutrigenetic studies analyzing gene-diet interactions of the TCF7L2-rs7903146 C > T polymorphism on type-2 diabetes (T2D) have shown controversial results. A reason contributing to this may be the additional modulation by obesity. Moreover, TCF7L2-rs7903146 is one of the most influential variants in T2D-genetic risk scores (GRS). Therefore, to increase the predictive value (PV) of GRS it is necessary to first see whether the included polymorphisms have heterogeneous effects. We comprehensively investigated gene-obesity interactions between the TCF7L2-rs7903146 C > T polymorphism on T2D (prevalence and incidence) and analyzed other T2D-polymorphisms in a sub-sample. We studied 7018 PREDIMED …

Short telomere length is associated with impaired cognitive performance in European ancestry cohorts

2017

AbstractThe association between telomere length (TL) dynamics on cognitive performance over the life-course is not well understood. This study meta-analyses observational and causal associations between TL and six cognitive traits, with stratifications on APOE genotype, in a Mendelian Randomization (MR) framework. Twelve European cohorts (N=17 052; mean age=59.2±8.8 years) provided results for associations between qPCR-measured TL (T/S-ratio scale) and general cognitive function, mini-mental state exam (MMSE), processing speed by digit symbol substitution test (DSST), visuospatial functioning, memory and executive functioning (STROOP). In addition, a genetic risk score (GRS) for TL includin…

Design and protocol of Estrogenic Regulation of Muscle Apoptosis (ERMA) study with 47 to 55-year-old women's cohort : novel results show menopause-re…

2018

Supplemental Digital Content is available in the text

Conventional and semi-automatic histopathological analysis of tumor cell content for multigene sequencing of lung adenocarcinoma

2021

BACKGROUND: Targeted genetic profiling of tissue samples is paramount to detect druggable genetic aberrations in patients with non-squamous non-small cell lung cancer (NSCLC). Accurate upfront estimation of tumor cell content (TCC) is a crucial pre-analytical step for reliable testing and to avoid false-negative results. As of now, TCC is usually estimated on hematoxylin-eosin (H&E) stained tissue sections by a pathologist, a methodology that may be prone to substantial intra- and interobserver variability. Here we the investigate suitability of digital pathology for TCC estimation in a clinical setting by evaluating the concordance between semi-automatic and conventional TCC quantification…

The Interplay between Genes and Psychosocial Home Environment on Physical Activity

2018

Introduction Genetic factors contribute to individual differences in physical activity, but it remains uncertain whether the magnitude of the genetic effects is modified by variations in home environments. We aimed to examine to what extent the psychosocial home environment in childhood and adolescence modifies the genetic influences on leisure time physical activity in young adulthood. Methods Participants were Finnish twins (N = 3305) who reported their leisure time physical activity at age 24 yr. The psychosocial home environment was assessed by twins at ages 12, 14, and 17 yr, as well as by their parents when the twins were age 12 yr. Gene–environment interaction modeling was performed …

Hypertrophic pachymeningitis and cerebral venous thrombosis in myeloperoxidase-ANCA associated vasculitis

2019

Hypertrophic pachymeningitis (HP) is a circumscribed inflammatory process that thickens meninges with fibrous adhesions. Among the causes of HP, vasculitis and autoimmune disease should be considered; myeloperoxidase (MPO)-antinuclear cytoplasmatic antibodies (ANCA)-positivity can be the only

Brain MRI patterns in MPS IIIB (Sanfilippo syndrome type B): A longitudinal study

2016

Postpartum listeria meningitis

2020

Highlights • Listeria monocytogenes is a rare cause of meningitis in immunocompetent patient. • Pregnancy and puerperium are accompanied by a decrease in cellular immunity. • Pregnancy and puerperium should be considered as risk factors for invasive listeriosis.

Devices containing allyl isothiocyanate against the growth of spoilage and mycotoxigenic fungi in mozzarella cheese

2018

Filter paper and stickers containing allyl isothiocyanate (AIT), as well as pouches containing mustard meal and water for intrinsic production of AIT, were tested against aflatoxigenic strains of Penicillium digitatum CECT 2954 and Aspergillus parasiticus CECT 2681 in sliced mozzarella. Slices were inoculated with either fungus, packaged in plastic bags or plastic trays with one antimicrobial device (2–16 µL/L of AIT). Control groups presented visual growth of P. digitatum after 19.0 ± 1.5 d in bags and 26.1 ± 2.1 d in trays. A. parasiticus was visually detectable after 41.4 ± 1.7 d and 28.4 ± 1.5 d in trays and bags, respectively. AIT‐treated samples did not present visual fungal growth fo…