Search results for "38"

A novel L1CAM mutation in a fetus detected by prenatal diagnosis

2010

X-linked hydrocephalus is due to mutations in the L1 neuronal cell adhesion molecule (L1CAM) gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. We report on a familial case diagnosed by prenatal ultrasonographic examination, with cerebellar hypoplasia, agenesis of the corpus callosum, and the bilateral overlapping of the second and third fingers of the hand. Sequencing of the L1CAM gene showed a novel missense mutation in exon 14: transition of a guanine to cytosine at position 1777 (c.1777G > C), which led to an amino acid change of alanine to proline at position 593 (Ala593Pro) in the sixth immunoglobulin …

The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.

2015

Autoinflammatory disorders (AIDs) are a novel class of diseases elicited by mutations in genes regulating the homeostasis of innate immune complexes, named inflammasomes, which lead to uncontrolled oversecretion of the proinflammatory cytokine interleukin-1β. Protean inflammatory symptoms are variably associated with periodic fever, depicting multiple specific conditions. Childhood is usually the lifetime in which most hereditary AIDs start, though still a relevant number of patients may experience a delayed disease onset and receive a definite diagnosis during adulthood. As a major referral laboratory for patients with recurrent fevers, we have tested samples from 787 patients in the perio…

The Role of Attitudes and Ethicality on Branded Video Games(Advergames) Acceptance

2014

Advergames are branded video games that blur the line between entertainment and advertising. Advergames are gaining momentum among advertisers and advertising agencies fueled by their capability to engage teenagers and young adults with branded communications. This study focuses on consumers’ intentions to use advergames analyzing three attitudinal factors – attitude toward advertising, attitude toward product placement in video games, and attitude toward advergames- and the ethical evaluations of the use of advergames as an advertising format (ethicality). The proposed model was empirically tested using a sample of 304 college students. Major findings suggest that attitudes toward advergam…

Serological Screening of Celiac Disease: Choosing the best tests under two years.

2005

Taste receptor polymorphisms and longevity: a systematic review and meta-analysis

2020

AbstractBitter taste receptors (TAS2R) are involved in a variety of non-tasting physiological processes, including immune-inflammatory ones. Therefore, their genetic variations might influence various traits. In particular, in different populations of South Italy (Calabria, Cilento, and Sardinia), polymorphisms of TAS2R16 and TAS238 have been analysed in association with longevity with inconsistent results. A meta-analytic approach to quantitatively synthesize the possible effect of the previous variants and, possibly, to reconcile the inconsistencies has been used in the present paper. TAS2R38 variants in the Cilento population were also analysed for their possible association with longevi…

Lipocalin-2 Regulates Hippocampal Microglial Activation in Poststroke Depression

2021

Background and Purpose: Microglia play important role in poststroke depression (PSD), however, the exact mechanism was still unclear. The purpose of the study was to study the mechanism of microglial activation in PSD.Methods: 24 rats were randomly divided into three groups: the PSD group (n = 10), the poststroke (PS) group (n = 7), and the sham group (n = 7). Primary hippocampal microglia were isolated and cultured, and recombined LCN2 protein was used to stimulate the cultured microglia. The protein expression of Iba1, P38 MAPK and PP38 MAPK was analyzed by western blotting; the LCN2 expression was measured by RT-qPCR, the serum LCN2 level and the NO level were analyzed by ELISA.Results: …

Study of the Expression of Angiogenic Factors and Dopaminergic Receptors: Correlation with ZAP70, CD38 and the Mutational State in Chronic Lymphocyti…

2006

Abstract The angiogenesis is a well known process implicate in the progression of CLL. In this disease has been described an increase of angiogenic and pro-angiogenic factors in serum and angiogenic receptors in B cells, mainly in advances stages. Recently had been known that the agonist of the dopaminergic receptor D2 can inhibit the tumour growth and a possible mechanism mediator is the internalization of VEGFR-2. The aim of this work had been to analyze the expression of the dopaminergic receptors (D1, D2, D3, D4 and D5), the angiogenic receptors and its correlation with the main biological factor implicated in the illness (ZAP-70, CD38 and the mutational status of IgVH/BCL-6). We had de…

El monument al mestre Serrano a Sueca per Vicente Beltrán: entusiasme inicial, construcció i problemes legals

2018

The future outlook on allergen immunotherapy in children: 2018 and beyond

2018

Abstract Allergen immunotherapy (AIT) is the only currently available immune-modifying and aetiological treatment for patients suffering from IgE-mediated diseases. In childhood, it represents a suitable therapeutic option to intervene during the early phases of respiratory allergic diseases such as rhino-conjunctivitis and asthma, which is when their progression may be more easily influenced. A growing body of evidence shows that oral immunotherapy represents a promising treatment option in children with persistent IgE- mediated food allergy. The efficacy of AIT is under investigation also in patients with extrinsic atopic dermatitis, currently with controversial results. Furthermore, AIT …

Epileptic seizures as a manifestation of cow's milk allergy: a studied relationship and description of our pediatric experience

2014

Adverse reactions after ingestion of cow's milk proteins can occur at any age, from birth and even amongst exclusively breast-fed infants, although not all of these are hypersensitivity reactions. The most common presentations related to cow's milk protein allergy are skin reactions, failure to thrive, anaphylaxis as well as gastrointestinal and respiratory disorders. In addition, several cases of cow's milk protein allergy in the literature have documented neurological involvement, manifesting with convulsive seizures in children. This may be due to CNS spread of a peripheral inflammatory response. Furthermore, there is evidence that pro-inflammatory cytokines are responsible for disruptin…