Search results for "Sting"
showing 10 items of 3756 documents
The Neuronal Ceroid-Lipofuscinoses. Recent Advances
1998
The neuronal ceroid lipofuscinoses (NCLs) represent a group of neurodegenerative disorders characterised by progressive visual failure, neurodegeneration, epilepsy and the accumulation of an autofluorescent lipopigment in neurons and other cells. The main childhood subtypes are infantile (INCL;CLN1), classical late infantile (LINCL;CLN2) and juvenile NCL (J NCL; CLN3), distinguished on the basis of age of onset, clinical course and ultrastructural morphology, and recently genetic analysis. In addition several variant forms of the disease complex have been described as well as a rare adult onset form. Advances in both genetics and biochemistry have led to the identification of the genes for …
Dental profile of a community of recovering drug addicts: Biomedical aspects. Retrospective cohort study
2013
Objectives: to obtain a biomedical oral profile of a community of adult drug addicts in treatment by analysing their dental health, with a view to determining whether the state of their oral health could be attributed primarily to their lifestyle and the direct consequences of drug abuse on their overall condition, rather than to the effects of the drugs used. Experimental Design: the study was conducted under the terms of an agreement between the Complutense University of Madrid's (UCM) Odontology Faculty and the City of Madrid's Substance Abuse Institute. Seventy drug addicts and 34 control group subjects were examined. The study assessed oral hygiene habits, systemic pathology, type of d…
Factors explaining the physical activity of young adults: the importance of early socialization.
2007
As a part of the large project Cardiovascular Risk in Young Finns, the purpose of the present study was to examine how adult physical activity is influenced by early physical activity and current social and health-related factors. A total of 2411 children and adolescents aged 9, 12, 15 and 18 years were randomly selected from five university towns and their rural surroundings in 1980. They were followed up for 12 years by means of questionnaires. In 1992 they were 21, 24, 27 and 30 years old. The results showed that early physical activity and current social and health-related behaviours were significantly related to the level of adult physical activity. Multivariable analyses indicated tha…
Developmental and Early Life Origins of Cardiometabolic Risk Factors
2021
The intent of this review is to critically consider the data that support the concept of programming and its implications. Birth weight and growth trajectories during childhood are associated with cardiometabolic disease in adult life. Both extremes, low and high birth weight coupled with postnatal growth increase the early presence of cardiometabolic risk factors and vascular imprinting, crucial elements of this framework. Data coming from epigenetics, proteomics, metabolomics, and microbiota added relevant information and contribute to better understanding of mechanisms as well as development of biomarkers helping to move forward to take actions. Research has reached a stage in which suff…
Post-traumatic lipoma of the parotid gland: case report
2008
The incidence of lipoma among parotid tumours ranges from 0.6% to 4.4%, with most series reporting an incidence of 1%. The most common origin of these tumours, in the parotid gland, is from the superficial lobe and, only rarely, from the deep lobe. Lipomas, upon clinical history, are found to be most frequently related to an episode of trauma. Computed Tomography scan and Magnetic Resonance Imaging can lead to a pre-operative diagnosis of lipoma. The case is described of lipoma of the superficial lobe of the parotid gland.
A mutation in myotilin causes spheroid body myopathy
2005
Background: Spheroid body myopathy (SBM) is a rare, autosomal dominant, neuromuscular disorder, which has only been previously reported in a single large kindred. Identification of the mutated gene in this disorder may provide insight regarding abnormal neuromuscular function. Methods: The authors completed a detailed clinical evaluation on an extensive kindred diagnosed with SBM. Genome-wide linkage analysis was performed to localize the disease gene to a specific chromosomal region. Further marker genotyping and screening of a positional, functional candidate gene were completed to detect the disease-causing mutation. Pathologic analysis of muscle biopsy was performed on three individuals…
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
2007
Mutations in the Angiogenin gene (ANG) linked to 14q11.2 have been recently discovered to be associated with Amyotrophic Lateral Sclerosis (ALS) in Irish and Scottish populations. In our study we investigated the role of ANG gene in ALS patients from southern Italy. We found a novel mutation in the signal peptide of the ANG gene in a sporadic patient with ALS (SALS). The molecular analysis of the ANG gene also demonstrated an allelic association with the rs11701 single nucleotide polymorphism (SNP) in familial ALS (FALS) but not in SALS patients. Our finding supports the evidence that the ANG gene is involved in ALS.
Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.
2005
Fluorescence in situ hybridization (FISH) analyses were performed on supernumerary marker chromosomes (SMCs) detected in 43 273 prenatal diagnoses over a period of 11 years, 1993–2003. A total of 42 pregnancies with SMC were identified, indicating a prevalence of one in 1032. A total of 15 SMCs were endowed with detectable euchromatin (prevalence, 1/2884), including six SMCs containing the cat eye critical region (CECR) on chromosome 22q11.21 (1/7212). De novo SMCs were found in 29 pregnancies (1/1492), including 14 euchromatic SMCs (48.2%). Follow-up studies were available for 24 cases. Nine pregnancies (37.5%) were terminated; two children (8.3%) were born with Pallister–Killian syndrome …
Clinical usefulness of Glycated Albumin in the diagnosis of diabetes: Results from an Italian study
2018
Objectives: Glycated Albumin (GA) has been proposed as a screening marker for diabetes in Asian countries in the last years. Nevertheless, few studies have been conducted in Caucasian population. The aim of this study is to evaluate the clinical usefulness of GA in diabetes diagnosis in Caucasian asymptomatic subjects considered at risk of diabetes based on medical history and Fasting Plasma Glucose (FPG). Design and methods: Three hundred and thirty-four Caucasian subjects having one or more risk factor for diabetes, and/or FPG ranging from 5.6 mmol/L to 6.9 mmol/L with no symptoms for diabetes were enrolled in this study. Plasma GA was measured by an enzymatic method (quantILab Glycated A…
16thIHIW: Anti-HLA alloantibodies of the of IgA isotype in re-transplant candidates
2012
Summary In this multicentre study, sera from 803 retransplant candidates, including 775 kidney transplant recipients, were analysed with regard to the presence and specificity of anti-HLA alloantibodies of the IgA isotype using a modified microsphere-based platform. Of the kidney recipients, nearly one-third (n = 237, 31%) had IgA alloantibodies. Mostly, these antibodies were found in sera that also harboured IgG alloantibodies that could be found in a total of 572 (74%) of patients. Interestingly, IgA anti-HLA antibodies were preferentially targeting HLA class I antigens in contrast to those of the IgG isotype, which targeted mostly both HLA class I and II antigens. Donor specificity of th…