Search results for "ILD"
showing 10 items of 12835 documents
Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with cli…
2020
To evaluate the feasibility of acoustic radiation force impulse point shear wave elastography (ARFI-pSWE) of the liver and spleen in patients with Gaucher disease type 1 (GD1), and to assess correlations between organ stiffness and clinico-radiologic data, particularly the GD1 Severity Scoring System (GD-DS3).We retrospectively evaluated the results of ARFI-pSWE as measures of liver and spleen stiffness in 57 patients with GD1. The feasibility of the method was assessed. Correlations between elastography data and clinical data related to the metabolic syndrome, laboratory tests, and GD1-related clinico-radiologic data (bone marrow burden score, GD-DS3) were assessed.ARFI-pSWE provided relia…
Growth factors and IL-17 in hereditary angioedema
2015
Hereditary angioedema (HAE) is a rare autosomal dominant disorder, due to C1-inhibitor deficiency, which causes episodic swellings of subcutaneous tissues, bowel walls and upper airways which are disabling and potentially life-threatening. We evaluated n = 17 patients with confirmed HAE diagnosis in basal and crisis state and n = 19 healthy subjects. The samples were tested for IL-17, FGFb, G-CSF and GM-CSF, using Bio-plex kit. Data analysis was performed via nonparametric Spearman’s correlations and two sets of linear mixed models. When comparing HAE subjects during basal and crisis states, we found out significantly (i.e., p value <0.05) higher values in crisis states rather than in basal…
When do myopia genes have their effect? Comparison of genetic risks between children and adults
2016
Item does not contain fulltext Previous studies have identified many genetic loci for refractive error and myopia. We aimed to investigate the effect of these loci on ocular biometry as a function of age in children, adolescents, and adults. The study population consisted of three age groups identified from the international CREAM consortium: 5,490 individuals aged 25 years. All participants had undergone standard ophthalmic examination including measurements of axial length (AL) and corneal radius (CR). We examined the lead SNP at all 39 currently known genetic loci for refractive error identified from genome-wide association studies (GWAS), as well as a combined genetic risk score (GRS). …
Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII).
2016
Hereditary angioedema with normal C1 esterase inhibitor and mutations in the F12 gene (HAE-FXII) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. It occurs nearly exclusively in women. We report our experience treating HAE-FXII with discontinuation of potential trigger factors and drug therapies. The study included 72 patients with HAE-FXII. Potential triggers included estrogen-containing oral contraceptives (eOC), hormonal replacement therapy, or angiotensin-converting enzyme inhibitors. Drug treatment comprised plasma-derived C1 inhibitor (pdC1-INH) for acute swelling attacks and progestins, tranexamic acid, and danaz…
Epidemiological analysis of human fascioliasis in northeastern Punjab, Pakistan.
2016
A coprological study was performed to assess human fascioliasis in 7200 subjects inhabiting rural communities of localities close to the capital city of Lahore in the northeastern part of the very highly populated Punjab province, Pakistan, a country where human infection had never been reported before 2005. The analysis of 1200 subjects including 50 subjects/month throughout a two-year study in each of six localities surveyed provided an overall prevalence of 1.18%, with a range between 0.67% and 1.75% according to localities. Infection rates did not differ according to gender, excepting a higher rate in females (1.13% vs 0.77%) in one locality. Prevalences according to age groups proved t…
Molecular and clinical studies in five index cases with novel mutations in the GLA gene
2016
Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chromosome (Xq21–22). The enzymatic deficit is responsible for the accumulation of glycosphingolipids in lysosomes of different cellular types, mainly in those ones of vascular endothelium. It consequently causes a cellular and microvascular dysfunction. In this paper, we described five novel mutations in the GLA gene, related to absent enzymatic activity and typical manifestations of Fabry disease. We identified three mutations (c.846_847delTC, p.E…
Therapeutic Opportunities in Intestinal Microbiota–Virus Interactions
2018
The host microbiota has emerged a third player in interactions between hosts and viral pathogens. This opens new possibilities to use different tools to modulate the intestinal microbial composition, aimed at reducing the risk of or treating viral enteric infections.
Effects of Study Population, Labeling and Training on Glaucoma Detection Using Deep Learning Algorithms
2020
Author(s): Christopher, Mark; Nakahara, Kenichi; Bowd, Christopher; Proudfoot, James A; Belghith, Akram; Goldbaum, Michael H; Rezapour, Jasmin; Weinreb, Robert N; Fazio, Massimo A; Girkin, Christopher A; Liebmann, Jeffrey M; De Moraes, Gustavo; Murata, Hiroshi; Tokumo, Kana; Shibata, Naoto; Fujino, Yuri; Matsuura, Masato; Kiuchi, Yoshiaki; Tanito, Masaki; Asaoka, Ryo; Zangwill, Linda M | Abstract: PurposeTo compare performance of independently developed deep learning algorithms for detecting glaucoma from fundus photographs and to evaluate strategies for incorporating new data into models.MethodsTwo fundus photograph datasets from the Diagnostic Innovations in Glaucoma Study/African Descent…
Differential Associations of IL-4 With Hippocampal Subfields in Mild Cognitive Impairment and Alzheimer’s Disease
2019
Background/Aims: A bi-directional communication between the immune system and the central nervous system has been recently suggested. Among many cytokines, the role of IL-4 - with anti-inflammatory properties- in counteracting age-related inflammatory changes in the brain is strongly supported among studies. With this study, we aimed at investigating the association between volumetric measures of hippocampal subregions -in healthy older controls (HC), subjects affected by mild cognitive impairment (MCI) and Alzheimer’s Disease (AD)- with circulating levels of IL-4. Methods: From AddNeuroMed Project 113 HC, 101 stable MCI (sMCI), 22 converter MCI (cMCI) and 119 AD were included. Hippocampal …
Overexpression of glucose 6 phosphate dehydrogenase preserves mouse pancreatic beta cells function until late in life.
2021
NAD(P)H donates electrons for reductive biosynthesis and antioxidant defense across all forms of life. Glucose-6- phosphate dehydrogenase (G6PD) is a critical enzyme to provide NADPH. G6PD deficiency is present in more than 400 million people worldwide. This enzymopathy provides protection against malaria but sensitizes cells to oxidative stressors. Oxidative stress has been involved in the pathogenesis of the diabetic complications and several studies have provided evidences of a link between G6PD deficiency and type 2 diabetes (T2D). We hypothesized that a moderate overexpression of G6PD (G6PD-Tg) could protect β-cells from age-associated oxidative stress thus reducing the risk of develop…