Search results for "familia."
showing 10 items of 1006 documents
Role of Circulating miRNAs as Biomarkers in Idiopathic Pulmonary Arterial Hypertension: Possible Relevance of miR-23a
2015
Idiopathic pulmonary hypertension (IPAH) is a rare disease characterized by a progressive increase in pulmonary vascular resistance leading to heart failure. MicroRNAs (miRNAs) are small noncoding RNAs that control the expression of genes, including some involved in the progression of IPAH, as studied in animals and lung tissue. These molecules circulate freely in the blood and their expression is associated with the progression of different vascular pathologies. Here, we studied the expression profile of circulating miRNAs in 12 well-characterized IPAH patients using microarrays. We found significant changes in 61 miRNAs, of which the expression of miR23a was correlated with the patients’ …
PGC-1α Induction in Pulmonary Arterial Hypertension
2012
Idiopathic Pulmonary arterial hypertension (IPAH) is characterized by the obstructive remodelling of pulmonary arteries, and a progressive elevation in pulmonary arterial pressure (PAP) with subsequent right-sided heart failure and dead. Hypoxia induces the expression of peroxisome proliferator activated receptorγcoactivator-1α(PGC-1α) which regulates oxidative metabolism and mitochondrial biogenesis. We have analysed the expression of PGC-1α, cytochrome C (CYTC), superoxide dismutase (SOD), the total antioxidant status (TAS) and the activity of glutathione peroxidase (GPX) in blood samples of IPAH patients. Expression of PGC-1αwas detected in IPAH patients but not in healthy volunteers. Th…
The role of the thalamus in amnesia: a tractography, high-resolution MRI and neuropsychological study.
2008
Although it is well established that thalamic lesions may lead to profound amnesia, the precise contribution of thalamic sub-regions to memory remains unclear. In an influential article Aggleton and Brown proposed that recognition memory depends on two processes supported by distinct thalamic and cortical structures. Familiarity is mediated by the mediodorsal (MD) thalamic nucleus and the entorhinal/ perirhinal cortex. Recollection ismediated by the anterior thalamic nucleus (AN), the mamillothalamic tract (MTT) and the hippocampus. The authors also suggested that the lateral dorsal nucleus (LD) may contribute to the thalamic/hippocampus system, thereby implying that the LD may play a role …
Homozygous familial hypercholesterolemia with severe involvement of the aortic valve—A sibling‐controlled case study on the efficacy of lipoprotein a…
2020
Background Homozygous familial hypercholesterolemia (hoFH) can cause severe atherosclerotic cardiovascular disease (ASCVD) in early infancy. Diagnosis and initiation of effective lipid-lowering therapy (LLT) are recommended as early as possible to prevent ASCVD-related morbidity and mortality. Methods The clinical courses of a pair of siblings with an identical hoFH genotype, who exhibited major similarities of their clinical phenotype were analyzed in a case-control fashion including the family. Results The older sibling was diagnosed with hoFH at the age of 4. Untreated LDL-cholesterol (LDL-C) was 17 mmol/L (660 mg/dL). LLT including lipoprotein apheresis (LA) was initiated and has been s…
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
2011
Abstract Background Autosomal dominant hypercholesterolemias (ADHs) are characterised by increased plasma levels of total and LDL cholesterol, predisposing to premature atherosclerosis. ADHs comprise several diseases with undistinguishable phenotype, caused by mutations in different genes: LDLR, APOB and PCSK9. Genetic studies are usually performed in patients with altered cholesterol levels. However, some persons carrying pathogenic mutations are normocholesterolemic and there are no further studies about this subject. We have studied the frequency of families and individuals carrying ADH mutations who do not present the disease in Spanish population. Methods We have analysed genes known t…
The feeling of familiarity for music in patients with a unilateral temporal lobe lesion: A gating study
2015
International audience; Previous research has indicated that the medial temporal lobe (MTL), and more specifically the perirhinal cortex, plays a role in the feeling of familiarity for non-musical stimuli. Here, we examined contribution of the MTL to the feeling of familiarity for music by testing patients with unilateral MTL lesions. We used a gating paradigm: segments of familiar and unfamiliar musical excerpts were played with increasing durations (250, 500, 1000, 2000, 4000 ms and complete excerpts), and participants provided familiarity judgments for each segment. Based on the hypothesis that patients might need longer segments than healthy controls (HC) to identify excerpts as familia…
Recollection and familiarity in hippocampal amnesia
2008
Currently, there is a general agreement that two distinct cognitive operations, recollection and familiarity, contribute to performance on recognition memory tests. However, there is a controversy about whether recollection and familiarity reflect different memory processes, mediated by distinct neural substrates (dual-process models), or whether they are the expression of memory traces of different strength in the context of a unitary declarative memory system (unitary-strength models). Critical in this debate is the status of recognition memory in hippocampal amnesia and, in particular, whether the various structures in the medial temporal lobe (MTL) contribute differentially to the recol…
Work, family and daily mobility: a new approach to the problem through a mobility survey
2013
Objectives: To analyze gender inequalities in socioeconomic factors affecting the amount of time spent travelling for work-related and home-related reasons among working individuals aged between 30 and 44 years old during a weekday in Catalonia (Spain). Methods: A cross-sectional study was conducted. Data were obtained from employed individuals aged between 30 and 44 years of age who reported travelling on the day prior to the interview in the Catalan Mobility Survey 2006 (N = 23,424). Multivariate logistic regression models were adjusted to determine the factors associated with longer time spent travelling according to the reason for travelling (work- or home-related journeys). Odds ratios…
Health literacy in familial hypercholesterolemia: A cross-national study.
2018
Background High rates of inadequate health literacy are associated with maladaptive health outcomes in chronic disease including increased mortality and morbidity rates, poor treatment adherence and poor health. Adequate health literacy may be an important factor in the effective treatment and management of familial hypercholesterolemia, and may also be implicated in genetic screening for familial hypercholesterolemia among index cases. The present study examined the prevalence and predictors of health literacy in familial hypercholesterolemia patients attending clinics in seven countries. Design Cross-sectional survey. Methods Consecutive FH patients attending clinics in Australia, Brazil,…
Accuracy of SWI sequences compared to T2*-weighted gradient echo sequences in the detection of cerebral cavernous malformations in the familial form
2016
Purpose The purpose of this study was to assess the accuracy of susceptibility-weighted imaging (SWI), compared with T2*-weighted gradient echo (GRE) imaging in assessing cerebral cavernous malformations. Materials and methods We retrospectively evaluated 21 patients with a familial form of cavernous malformation. Magnetic resonance (MR) protocol included non-enhanced and contrast-enhanced fast-spin echo (FSE) T1-weighted sequences, FSE T2-weighted sequences, fluid-attenuated inversion-recovery (FLAIR), GRE T2*-weighted and SWI sequences. Images were reviewed in consensus by two expert neuroradiologists to assess the location, number, size and conspicuity of the lesions on T2*-weighted GRE …