Search results for "Phenotype"
showing 10 items of 1875 documents
Alterations in the tear proteome of dry eye patients--a matter of the clinical phenotype.
2013
PURPOSE. Previous studies demonstrated alterations in the tear proteome of dry eye patients. The aim of the present study was to analyze tear protein patterns of dry eye patients considering different clinical phenotypes in order to examine their influence on tear film protein composition. METHODS. We applied a surface-enhanced laser desorption/ ionization-time-of-flight (SELDI-TOF)/matrix-assisted laser desorption/ionization-time-of-flight (MALDI-TOF)/TOF mass spectrometry (MS)‐based strategy to detect/identify candidate biomarkers. Tear samples of 169 patients, enrolled in two independent studies, were analyzed. Patients were subdivided into healthy controls (CTRL: N ¼ 39), aqueous-defici…
Pro-inflammatory gene variants in myocardial infarction and longevity: implications for pharmacogenomics.
2008
Inflammation and genetics play an important role in the pathogenesis of coronary heart disease (CHD). However, despite the increasing appreciation of the role of genetics in CHD and myocardial infarction (MI) pathogenesis, pharmacogenomic approaches to uncover drug target have not been extensively explored. Cyclo-oxygenases (COXs) and 5-lipoxygenase (5-LO) are the key enzymes in the conversion of arachidonic acid to prostaglandins (PG) and leukotrienes (LT) and are implicated in a wide variety of inflammatory disorders, including atherosclerosis. In fact, PGE2 activates Matrix Metallo-proteinases whereas LTB4 is a chemoactractant for monocytes and activates gene expression in inflammatory c…
Macrophage phenotype in the subclinical gut inflammation of patients with ankylosing spondylitis
2014
OBJECTIVE: Long-term evolution of subclinical gut inflammation to overt Crohn's disease (CD) has been described in AS patients. The aim of this study was to evaluate macrophage polarization occurring in the inflamed gut of patients with AS. METHODS: Twenty-seven HLA-B27(+) AS patients, 20 CD patients and 17 normal controls were consecutively enrolled. Classic M1 (iNOS(+)IL-10(-)), resolution phase (iNOS(+)IL-10(+)), M2 and CD14(+) macrophages were characterized by immunohistochemistry and flow cytometry. Quantitative gene expression analysis of IFN-γ, IL-4, IL-5, IL-33 and STAT6 was performed by real time PCR. RESULTS: Classic M1 macrophages were expanded in CD and AS, where resolution phas…
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.
2003
Fabry disease (FD) is a debilitating progressive multisystem X-linked lysosomal storage disorder. It was generally believed that the disease affects only adult males. Through systematic pedigree analysis, we identified 35 paediatric FD patients (age 1 to 21 years, mean 12.6 years) in 25 families. Predominant signs in this cohort were: acroparesthesia, hypohidrosis, and cornea verticillata. Neurological and psychological changes, such as tinnitus, recurrent vertigo, headache, diminished level of activity, fatigue, and depression were often observed. Angiokeratoma and gastrointestinal symptoms were frequent. Some patients also showed cardiac abnormalities. Six children and adolescents (three …
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
2019
Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomalies, and coarse facial features. The spectrum is wide, from very severe and lethal to a milder phenotype that usually progresses slowly. AM is caused by a deficiency of lysosomal alpha-mannosidase. A diagnosis can be established by measuring the activity of lysosomal alpha-mannosidase in leucocytes and screening for abnormal urinary excretion of mannose-rich oligosaccharides. Genetic confirmation is obtained with the identification of MAN2B1 muta…
Latvian registry of familial hypercholesterolemia: The first report of three-year results.
2018
Abstract Background and aims Familial hypercholesterolemia (FH) was rarely diagnosed in Latvia before 2015, when the Latvian Registry of FH (LRFH) was established. Here, we report the first experience of the LRFH over three years (2015–2017). Methods The LRFH is an ongoing nationwide, dynamic, long-term prospective cohort. The diagnosis of FH was assessed using the Dutch Lipid Clinic Network (DLCN) criteria. Cascade screening of first-degree relatives using age- and sex-specific percentiles of low-density lipoprotein cholesterol (LDL-C) was performed in relatives of patients with definite and probable FH. Results Among the 416 individuals included in the LRFH, 181 patients were diagnosed wi…
Interest of genotyping and phenotyping of drug-metabolizing enzymes for the interpretation of biological monitoring of exposure to styrene
2002
In the field of occupational and/or environmental toxicology, the measurement of specific metabolites in urine may serve to assess exposure to the parent compounds (biological monitoring of exposure). Styrene is one of the chemicals for which biological monitoring programs have been validated and implemented in environmental and occupational medicine. However, inter-individual differences in the urinary excretion exist both for the main end-products (mandelic acid and phenylglyoxylic acid) and for its specific mercapturic acids (phenylhydroxyethylmercapturic acids, PHEMA). This limits to a certain extent the use of these metabolites for an accurate assessment of styrene exposure. In a group…
Polymorphism of C'3 in German, Bulgarian, Iranian and Angola population
1973
Using agarose gel electrophoresis, C'3 was typed in 4 populations. The gene frequencies of the common allele C'3S in these 4 populations were Germans (0.8071), Bulgarians (0.8149), Iranians (0.7920) and Angola (0.9532). The results are discussed.
Associations between leprosy and serum protein groups
1970
Serum protein group typings were done on a sample of n=173 adult healthy Negroes from the Macua tribe in Mozambique and on n=129 leprous individuals from the same tribe. Unfortunately, the type of leprosy is not known. Whilst between leprosy and haptoglobins, transferrins and Pi proteins no associations could be observed, statistically significant associations between leprosy and ceruloplasmin resp. β2 I were found. It is pointed out that these associations should be confirmed by further research on other populations and with respect to type and process of leprosy, until biological and population genetical interpretations will be possible.
Accumulation of dysfunctional effector CD8+T cells in the liver of patients with chronic HCV infection
2005
Background/Aims Hepatitis C virus (HCV) causes a chronic infection that can lead to fibrosis and carcinoma. Immune responses mediated by cytotoxic T lymphocytes (CTLs) could be involved in viral clearance or persistence, and therefore in determining the course of the disease. Methods Intrahepatic and peripheral blood CD8+T cells were obtained from 32 HCV-chronically infected patients and analysed by flow-cytometry for surface markers of differentiation, IFNγ and TNFα production, degranulation capacity and perforin content, after CD3 triggering. Results were compared with those obtained from 13 patients with a non-viral liver disease. Results Intrahepatic CD8+T cells of HCV-infected patients…