Search results for " DISORDERS"

The B-cell receptor in control of tumor B-cell fitness: Biology and clinical relevance

2019

Surface expression of a functional B cell antigen receptor (BCR) is essential for the survival and proliferation of mature B cells. Most types of B-cell lymphoproliferative disorders retain surface BCR expression, including B-cell non-Hodgkin lymphomas (B-NHL) and chronic lymphocytic leukemia (CLL). Targeting BCR effectors in B-NHL cell lines in vitro has indicated that this signaling axis is crucial for malignant B cell growth. This has led to the development of inhibitors of BCR signaling, which are currently used for the treatment of CLL and several B-NHL subtypes. Recent studies based on conditional BCR inactivation in a MYC-driven mouse B-cell lymphoma model have revisited the role of …

Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings

2021

The European Community’s Seventh Framework Programme under grant agreement No. HEALTH-F2-2010-241909 (EUGEI); The Spanish sample was supported by the Spanish Ministry of Science and Innovation, Instituto de Salud Carlos III (SAM16PE07CP1, PI16/02012, PI19/024) (...)

Sleep, alertness and alertness management among commercial airline pilots on short-haul and long-haul flights

2016

Item does not contain fulltext Airline pilots' sleep and on-duty alertness are important focus areas in commercial aviation. Until now, studies pertaining to this topic have mainly focused on specific characteristics of flights and thus a comprehensive picture of the matter is not well established. In addition, research knowledge of what airline pilots actually do to maintain their alertness while being on duty is scarce. To address these gaps in research knowledge, we conducted a field study on a representative sample of the airline pilots of a medium-sized airline. The sample consisted of 90 pilots, of whom 30 flew long-haul (LH) routes, 30 short-haul (SH) routes, and 30 flew both. A tota…

Menstrual dysfunction and body weight dissatisfaction among Finnish young athletes and non-athletes.

2020

To determine the prevalence of menstrual dysfunction (MD; i.e. oligomenorrhea or amenorrhea) and attitudes towards body weight among athletes and non‐athletes, we studied a cohort of athletes and non‐athletes, in adolescence (14–16 years) and subsequently in young adulthood (18–20 years). We further studied the differences between athletes reporting MD and eumenorrheic athletes at both time periods and identified physical and behavioural characteristicsthat might predict MD in young adulthood. Data were collected using questionnaires, accelerometers, and a pre‐participation screening. In adolescence, the athletes reported current primary amenorrhea more often than the non‐athletes (4.7% vs.…

Influence of fetal glutathione S-transferase copy number variants on adverse reproductive outcomes

2012

A nested case-control association study was designed to investigate the influence of maternal and fetal copy number variants (CNVs) on reproductive outcomes. Genotypes of ten CNVs encompassing GST and CYP genes were assessed. Significant associations were only found for child CNV genotypes. In particular, the child GSTM1 insertion allele was associated with prematurity protection (odds ratio, 95% CI: 0.67, 0.51-0.89; P < 0.01), whereas the child GSTT2B insertion allele was associated with an increased risk of being small for gestational age (odds ratio, 95% CI: 1.33, 1.07-1.67; P = 0.01). The study highlights the role of the fetal genome in prenatal development and also the need to analyse …

Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?

2021

Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disord…

2021

The CMS4 mesenchymal subtype of colorectal cancer (CRC) is associated with poor prognosis and resistance to treatment. The cellular prion protein PrPC is overexpressed in CMS4 tumors and controls the expression of a panel of CMS4-specific genes in CRC cell lines. Here, we sought to investigate PrPC downstream pathways that may underlie its role in CMS4 CRC. By combining gene set enrichment analyses and gain and loss of function approaches in CRC cell lines, we identify the integrin-linked kinase ILK as a proximal effector of PrPC that mediates its control on the CMS4 phenotype. We further leveraged three independent large CRC cohorts to assess correlations in gene expression pattern with pa…

Stage-specific control of oligodendrocyte survival and morphogenesis by TDP-43

2021

AbstractGeneration of oligodendrocytes in the adult brain enables both adaptive changes in neural circuits and regeneration of myelin sheaths destroyed by injury, disease, and normal aging. This transformation of oligodendrocyte precursor cells (OPCs) into myelinating oligodendrocytes requires processing of distinct mRNAs at different stages of cell maturation. Although mislocalization and aggregation of the RNA binding protein TDP-43 occur in both neurons and glia in neurodegenerative diseases, the consequences of TDP-43 loss within different stages of the oligodendrocyte lineage are not well understood. By performing stage-specific genetic inactivation of Tardbp in vivo, we show that olig…

Le goût sucré, de l’enfance… à la dépendance ?

2013

Summary: Can one talk about addiction to sugar? Sugar is an important part of our diet, and an important source of pleasure, as of a young age. The definition of addiction involves that addictive substances act on the reward circuit, and lead to two symptoms, withdrawal and tolerance. Is it the case with sugar? According to the literature, brain activations in regions involved in the reward circuit are observed in response to “sugar”, and they differ according to the type of sugar (caloric carbohydrates, sweet or not; sweeteners). Besides, withdrawal and tolerance symptoms are not well characterized: food cravings often concern sweet foods, but there is a decrease with age of the preference…

Exploring the profiles of children with autism spectrum disorder: association with family factors.

2019

This study aimed to identify different profiles of children with autism spectrum disorder (ASD) without intellectual disability (ID) and maternal factors characteristic of these profiles. Participants were 89 children between 7 and 11 years old and their mothers, distributed in two groups, 52 children with ASD and 37 with typical development (TD). Based on the children’s adaptive, behavioral, and pragmatic manifestations, three clusters were obtained in the ASD group. Children with the most serious difficulties in all the domains assessed were assigned to Cluster 1, whereas the children in Cluster 3 were characterized by relatively minor problems. Cluster 2 comprised children with moderate …