Search results for " AD"

A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma.

2017

IF 1.590; International audience; Background: The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum. Hence, the real link between Lynch syndrome, or Muir-Torre syndrome, and these tumors remains difficult to assess.Case presentation: We present the case of a 45-year-old-woman, diagnosed with breast cancer at 39 years of age and skin squamous cell carcinoma (SCC)…

Changes in fruit and vegetable consumption habits from pre-pregnancy to early pregnancy among Norwegian women

2017

Background: A healthy diet is important for pregnancy outcome and the current and future health of woman and child. The aims of the study were to explore the changes from pre-pregnancy to early pregnancy in consumption of fruits and vegetables (FV), and to describe associations with maternal educational level, body mass index (BMI) and age. Methods: Healthy nulliparous women were included in the Norwegian Fit for Delivery (NFFD) trial from September 2009 to February 2013, recruited from eight antenatal clinics in southern Norway. At inclusion, in median gestational week 15 (range 9–20), 575 participants answered a food frequency questionnaire (FFQ) where they reported consumption of FV, bot…

11 and 15-month-old infants do not compensate immediately for energy variation, and no further adjustment occurs 12 or 24 hours later

2021

International audience; Previously, we demonstrated that, in the short term, infants undercompensated for the energy from a preload given 25 min before an ad libitum meal. However, although not consistent, there is evidence in young children that caloric adjustment may occur over longer periods. We investigated the extent to which further energy adjustment occurs up to 24 h after a single meal preceded by preloads of varying energy density (ED) in infants that are 11 and 15 months old. Short-term caloric adjustment was measured in 11- and 15-month-old infants through a preload paradigm meal in the laboratory. To assess their caloric adjustment over longer periods (12 and 24 h), we used 24 h…

Neoplasia mandibular y gastrostomía: a propósito de un caso nutricional

2018

Se expone el caso de un varón de 47 años con carcinoma epidermoide mandibular. Su evolución ocasiona la aparición de una desnutrición calórica severa que requiere una valoración nutricional completa con el método SENPE-SEDOM. Dicha situación se agrava con el tratamiento quirúrgico y oncológico, desarrollando una disfagia mecánica grave, valorada y diagnosticada con el Método de Exploración Clínica Volumen-Viscosidad (MECV-V). El paciente requiere progresivas adaptaciones dietéticas tanto de textura como de aporte nutricional, precisando el uso de sonda de alimentación por gastrostomía y de nutrición enteral a través de ella. La finalidad es mejorar el estado nutricional, que había empeorado…

Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group

2017

Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infu…

Adrenoceptors—New roles for old players

2019

LINKED ARTICLES This article is part of a themed section on Adrenoceptors-New Roles for Old Players. To view the other articles in this section visit http://onlinelibrary.wiley.com/doi/10.1111/bph.v176.14/issuetoc.

α1-adrenoceptor activity of β-adrenoceptor ligands – An expected drug property with limited clinical relevance

2020

Many β-adrenoceptor agonists and antagonists including several clinically used drugs have been reported to also exhibit binding to α1-adrenoceptors. Such promiscuity within the adrenoceptor family appears to occur more often than off-target effects of drugs in general. It should not be considered surprising based on the amino acid homology among the nine adrenoceptor subtypes including the counter-ions for binding the endogenous catecholamines. When β-adrenoceptor ligands also bind to α1-adrenoceptors, they almost always act as antagonists, regardless of being agonists or antagonists at the β-adrenoceptor. The α1-adrenoceptor affinity of β-adrenoceptor ligands in most cases is at least one,…

How β3 -adrenoceptor-selective is mirabegron?

2016

Changes in the expression of α 1B -adrenoceptor in peripheral mononuclear cells correlates with blood pressure and plasmatic homocysteine

2017

Human peripheral mononuclear cells (HPMC) have been suggested as a practical surrogate for myocardial or vascular cells. Present work analyses if changes in the expression of α1-adrenoceptors (ARs) in HPMC are related to the hypertensive state and its clinical consequences. Quantitative RT-PCR was employed to evaluate the mRNA levels of the three α1-ARs (α1A, α1B, α1D) in HPMC isolated from normotensive and hypertensive patients, and also in tissues from two animal models of hypertension: spontaneously hypertensive rats (SHR) and hypertension induced by chronic treatment with L-NAME. In patients, 24-h ambulatory blood pressure and serum biochemical profile were also recorded. We found that …

2016

The growth of next-generation sequencing (NGS) datasets poses a challenge to the alignment of reads to reference genomes in terms of alignment quality and execution speed. Some available aligners have been shown to obtain high quality mappings at the expense of long execution times. Finding fast yet accurate software solutions is of high importance to research, since availability and size of NGS datasets continue to increase. In this work we present an efficient parallelization approach for NGS short-read alignment on multi-core clusters. Our approach takes advantage of a distributed shared memory programming model based on the new UPC++ language. Experimental results using the CUSHAW3 alig…