Search results for " Basic"

Ichthyosis, atopic dermatitis, and alopecia

2018

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

2017

International audience; Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5'-UTR of the FMR1 gene, therefore, routinely tested in ID patients. We report here three FMR1 intragenic pathogenic variants not affecting this sequence, identified using high-throughput sequencing (HTS): a previously reported hemizygous deletion encompassing the last exon of FMR1, too small to be detected by array-CGH and inducing decreased expression of a truncated form of FMRP protein, in three brothers with ID (family 1) and two splice variants in boys with sporadic ID: a de novo …

Childhood Dietary Intake in Italy: The Epidemiological "MY FOOD DIARY" Survey

2019

Promoting a healthy lifestyle during the first years of life is a key strategy for controlling obesity risk in later life

Does Metformin Modulate Endoplasmic Reticulum Stress and Autophagy in Type 2 Diabetic Peripheral Blood Mononuclear Cells?

2018

Since type 2 diabetes (T2D) is associated with oxidative stress and metformin has been shown to exert a protective role against the said stress, we wondered whether metformin treatment might also modulate endoplasmic reticulum (ER) stress and autophagy in leukocytes of T2D patients. We studied 53 T2D patients (37 of whom had been treated with metformin 1700 mg for at least 1 year) and 30 healthy volunteers. Leukocytes from both groups of T2D patients exhibited increased protein levels of 78-kDa glucose-regulated protein (GRP78) with respect to controls, whereas activating transcription factor 6 (ATF6) was enhanced specifically in nonmetformin-treated T2D, and (s-xbp1) and phosphorylated euk…

Bigger is not better: cortisol-induced cardiac growth and dysfunction in salmonids

2015

This is a Published Manuscript of an article published by Company of Biologists in Journal of Experimental Biology, available online: http://www.biologists.com/ Stress and elevated cortisol levels are associated with pathological heart growth and cardiovascular disease in humans and other mammals. We recently established a link between heritable variation in post-stress cortisol production and cardiac growth also in salmonid fish. A conserved stimulatory effect of the otherwise catabolic steroid hormone cortisol is likely implied, but has to date not been established experimentally. Furthermore, whereas cardiac growth is associated with failure of the mammalian heart, pathological cardiac h…

Contrast sensitivity and color perception with orange and yellow intraocular lenses

2012

To evaluate contrast sensitivity function (CSF) and color vision after implantation of either orange or yellow-tinted intraocular lenses (IOLs).Fifty-six eyes of 28 cataract patients who had bilateral implantation of orange-tinted (PC440Y Orange, Ophtec), yellow-tinted (AcrySof Natural SN60AT, Alcon), or clear (AcrySof SA60AT, Alcon) IOLs were examined. Six months postoperatively, monocular CSF under photopic and mesopic (with and without glare) conditions were measured using the Functional Visual Analyzer. Color discrimination was determined with the Farnsworth-Munsell 100-Hue test.Patients implanted with orange-tinted, yellow-tinted, or clear IOLs displayed similar CSF values, with no sta…

Elevated Testosterone Level and Urine Scent Marking in Male 5xFAD Alzheimer Model Mice

2019

Background:Function of the Amyloid Precursor Protein (AβPP) and its various cleavage products still is not unraveled down to the last detail. While its role as a source of the neurotoxic Amyloid beta (Aβ) peptides in Alzheimer’s Disease (AD) is undisputed and its property as a cell attachment protein is intriguing, while functions outside the neuronal context are scarcely investigated. This is particularly noteworthy because AβPP has a ubiquitous expression profile and its longer isoforms, AβPP750 and 770, are found in various tissues outside the brain and in non-neuronal cells.Objective:Here, we aimed at analyzing the 5xFAD Alzheimer’s disease mouse model in regard to male sexual function.…

Calcium Intake and Nutritional Adequacy in Spanish Children: The ANIVA Study

2017

Calcium is an important nutrient for child development. The main objective of this study was to assess calcium intake and its adequacy with dietary reference intake (DRI) in Spanish children. The ANIVA (Antropometría y Nutrición Infantil de Valencia) study is a descriptive cross-sectional study. During two academic years 2013–2014 and 2014–2015, 1176 schoolchildren aged 6–9 years were selected from 14 primary schools in Valencia (Spain). Three-day food records were used to assess dietary intake, completed by parents/guardian. Anthropometric data (weight and height) were evaluated in all subjects. Nutritional intake was compared to estimated average requirements (EARs) and adequate intake (A…

A whole blood test to measure SARS-CoV-2-specific response in COVID-19 patients

2021

Objectives To examine whether specific T-cell-responses to SARS-CoV-2 peptides can be detected in COVID-19 using a whole-blood experimental setting, which may be further explored as potential diagnostic tool. Methods We evaluated IFN-γ levels after stimulating whole-blood with spike and remainder-antigens peptides megapools (MP) derived from SARS-CoV-2 sequences; IL-1β, IL-1RA, IL-2, IL-4, IL-5, IL-6, IL-7, IL-8, IL-9, IL-10, IL-12p70, IL-13, IL-15, IL-17A, eotaxin, basic FGF, G-CSF, GM-CSF, IFN-γ, IP-10, MCP-1, MIP-1α, MIP-1β, PDGF, RANTES, TNF-α, VEGF were also evaluated. Results IFN-γ-response to spike and remainder-antigens MPs was significantly increased in 35 COVID-19-patients compare…

The complex alteration in the network of IL-17-type cytokines in patients with hereditary angioedema

2018

Hereditary angioedema (HAE) is a rare autosomic-dominant disorder characterized by a deficiency of C1 esterase inhibitor which causes episodic swellings of subcutaneous tissues, bowel walls and upper airways that are disabling and potentially life-threatening. We evaluated n = 17 patients with confirmed HAE diagnosis during attack and remission state and n = 19 healthy subjects. The samples were tested for a panel of IL (Interleukin)-17-type cytokines (IL-1β, IL-6, IL-10, granulocyte–macrophage colony stimulating factor (GM-CSF), IL-17, IL-21, IL-22, IL-23) and transforming growth factor-beta (TGF-β) subtypes. Data indicate that there are variations of cytokine levels in HAE subjects compar…