Search results for "informatics"
showing 10 items of 2542 documents
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
2012
International audience; Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, short stature with delayed bone age, and expressive language delay. To date, the gene(s) responsible for FHS is (are) unknown and the diagnosis is only made on the basis of the clinical phenotype. The majority of cases appeared to be sporadic but rare cases following autosomal dominant inheritance have been reported. We identified a 4.7 Mb de novo 12q15-q21.1 microdeletion in a patient with FHS and intellectual deficiency. Pangenomic 244K array-CGH performed in a series of 12 patients with FHS failed to identify overlapping deletions. We hypothesized that FHS is caused by haploinsuf…
AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement.
2020
Lysosomal storage diseases (LSDs) are a heterogeneous group of inherited disorders caused by loss-of-function mutations in genes encoding for lysosomal enzymes/proteins. The consequence is a progressive accumulation of substrates in these intracellular organelles, resulting in cellular and tissue damage. The overall incidence is about 1/8000 live births, but is likely underestimated. LSDs are chronic progressive multi-systemic disorders, generally presenting with visceromegaly, and involvement of the central nervous system, eyes, the skeleton, and the respiratory and cardiovascular systems. The age at onset and phenotypic expression are highly variable, according to the specific enzymatic d…
Inflammatory markers and cardiovascular risk in the metabolic syndrome
2011
Elevated blood glucose, obesity, high blood pressure, elevated triglycerides and low high density lipoprotein (HDL) cholesterol are well accepted risk factors in the development of coronary artery disease. Clustering of at least three of these factors in an individual is defined as metabolic syndrome (MetS). Obesity is a central pathological mechanism in the disease and it is expected that the incidence of this condition will increase dramatically within the next years. The visceral adipose tissue is not only an energy depot but also an endocrine organ which produces a large number of bioactive molecules, the so called adipokines. In the setting of obesity, the over-production of proinflamm…
Working Alliance Inventory for Online Interventions-Short Form (WAI-TECH-SF): The Role of the Therapeutic Alliance between Patient and Online Program…
2020
Background: Therapeutic alliance (TA) between the patient and therapist has been related to positive therapeutic outcomes. Because Internet-based interventions are increasingly being implemented, a tool is needed to measure the TA with Internet-based self-guided programs. The Working Alliance Inventory for online interventions (WAI-TECH-SF) was adapted based on the WAI Short Form (Hatcher &
A deep learning framework for automatic diagnosis of unipolar depression.
2019
Abstract Background and purpose In recent years, the development of machine learning (ML) frameworks for automatic diagnosis of unipolar depression has escalated to a next level of deep learning frameworks. However, this idea needs further validation. Therefore, this paper has proposed an electroencephalographic (EEG)-based deep learning framework that automatically discriminated depressed and healthy controls and provided the diagnosis. Basic procedures In this paper, two different deep learning architectures were proposed that utilized one dimensional convolutional neural network (1DCNN) and 1DCNN with long short-term memory (LSTM) architecture. The proposed deep learning architectures au…
A semi-automatic approach for epicardial adipose tissue segmentation and quantification on cardiac CT scans
2019
Abstract Many studies have shown that epicardial fat is associated with a higher risk of heart diseases. Accurate epicardial adipose tissue quantification is still an open research issue. Considering that manual approaches are generally user-dependent and time-consuming, computer-assisted tools can considerably improve the result repeatability as well as reduce the time required for performing an accurate segmentation. Unfortunately, fully automatic strategies might not always identify the Region of Interest (ROI) correctly. Moreover, they could require user interaction for handling unexpected events. This paper proposes a semi-automatic method for Epicardial Fat Volume (EFV) segmentation a…
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
2017
Background Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community. Materials and methods Whole exome sequencing was performed as part of a "diagnostic odyssey" for suspected mitochon…
Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich’s ataxia patients
2017
AbstractMicroRNAs (miRNAs) are noncoding RNAs that contribute to gene expression modulation by regulating important cellular pathways. In this study, we used small RNA sequencing to identify a series of circulating miRNAs in blood samples taken from Friedreich’s ataxia patients. We were thus able to develop a miRNA biomarker signature to differentiate Friedreich’s ataxia (FRDA) patients from healthy people. Most research on FDRA has focused on understanding the role of frataxin in the mitochondria, and a whole molecular view of pathological pathways underlying FRDA therefore remains to be elucidated. We found seven differentially expressed miRNAs, and we propose that these miRNAs represent …
Serum Albumin and Future Risk of Hip, Humeral, and Wrist Fractures in Caucasian Men:New Findings from a Prospective Cohort Study
2018
<b><i>Objective:</i></b> Low serum albumin concentration is associated with poor health outcomes, but its relationship with the risk of fractures has not been reliably quantified. We aimed to assess the prospective association of serum albumin with the risk of fractures in a general population. <b><i>Subjects and Methods:</i></b> Baseline serum albumin concentrations were measured in 2,245 men aged 42–61 years in the Kuopio Ischemic Heart Disease study. Hazard ratios (HRs) (95% confidence intervals) were calculated for incident fractures. <b><i>Results:</i></b> A total of 121 fractures (hip, humeral, or wrist) were rec…
Symmetry function in gait pattern analysis in patients after unilateral transfemoral amputation using a mechanical or microprocessor prosthetic knee
2021
AbstractBackgroundAbove-knee amputations (AKAs) contribute to gait asymmetry. The level of asymmetry is affected by the type of knee prosthetic module. There is limited evidence suggesting that more technically advanced solutions (microprocessor modules; MicPK) are superior to less advanced ones (mechanical modules; MechPK). The study aimed to evaluate the variable range of hip and pelvic joint movements during gait and look for differentiating areas with an increased level of asymmetry of the gait cycle in individuals who underwent an AKA and are equipped with MicPK or MechPK.MethodsTwenty-eight individuals participated in the study; 14 were assigned to a study group of individuals who und…