Search results for "Essential"
showing 10 items of 812 documents
Further evidence of genetic heterogeneity in familial essential tremor.
2007
Familial essential tremor (FET) is a common hereditary movement disorder with phenotypic variability and genetic heterogeneity. To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23). We performed a genetic analysis of these candidate chromosomal regions in a fifth-generation Italian kindred with autosomal-dominant ET. Of the 22 clinically evaluated family members, nine were affected by ET. The genetic study indicates that the ET in this family is not associated to any of the known ET loci. These findings support evidence of further genetic heterogeneity for such disease. (C) 2007 Elsevier Ltd. All rights reserv…
Different immunophenotypical apoptotic profiles characterise megakaryocytes of essential thrombocythaemia and primary myelofibrosis.
2009
Aims: Essential thrombocythaemia (ET) and primary myelofibrosis (PMF) share some clinical and pathological features, but show different biological behaviour and prognosis. The latest contributions to understanding the nature of these disorders have focused on bone marrow microenvironment remodelling and proliferative stress, recognising megakaryocytes (MKCs) as “key-cells”. The aim of this study was to investigate the apoptotic profile of ET and PMF MKCs in order to further characterise the biology of these disorders. Methods: Bone marrow biopsy samples from 30 patients with ET, and 30 patients with PMF, were immunophenotypically studied for the expression of pro-apoptotic (Fas, Fas-L, Bax,…
Reproducibility of the WHO histological criteria for the diagnosis of Philadelphia chromosome-negative myeloproliferative neoplasms
2014
This study, performed on behalf of the Italian Registry of Thrombocythaemias (Registro Italiano Trombocitemie), aimed to test the inter-observer reproducibility of the histological parameters proposed by the WHO classification for the diagnosis of the Philadelphia chromosome-negative myeloproliferative neoplasms. A series of 103 bone marrow biopsy samples of Philadelphia chromosome-negative myeloproliferative neoplasms consecutively collected in 2004 were classified according to the WHO criteria as follows: essential thrombocythaemia (n=34), primary myelofibrosis (n=44) and polycythaemia vera (n=25). Two independent groups of pathologists reviewed the bone marrow biopsies. The first group w…
Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods
2015
International audience; Calreticulin (CALR) mutations have recently been reported in 70-84% of JAK2V617F-negative myeloproliferative neoplasms (MPN), and this detection has become necessary to improve the diagnosis of MPN. In a large single-centre cohort of 298 patients suffering from Essential Thrombocythemia (ET), the JAK2V617F, CALR and MPL mutations were noted in 179 (60%), 56 (18.5%) and 13 (4.5%) respectively. For the detection of the CALR mutations, three methods were compared in parallel: high-resolution melting-curve analysis (HRM), product-sizing analysis and Sanger sequencing. The sensitivity for the HRM, product-sizing analysis and Sanger sequencing was 96.4%, 98.2% and 89.3% re…
[Effects of ACE inhibition with enalapril on the renal function of patients with essential arterial hypertension].
1987
Serum amino acid concentrations in aging men and women.
2003
The age and gender related differences in serum amino acid concentrations have been assessed in 72 (23-92 years) medically screened healthy men and women who were divided into three male and three female groups according to age. Free-time physical activity and food intake were analysed from the 5-day diaries. The subjects were instructed to eat according to their normal dietary habits and to avoid any clinical complementary nutritional products or other products that could increase protein or energy intake. The blood samples (5 ml) taken from the antecubital vein after an over-night fast were analysed for their amino acid contents by chromatography. In total nutrient intake of energy (P < 0…
Effects of a nutraceutical formulation based on the combination of antioxidants and &omega;-3 essential fatty acids in the expression of inflamma…
2013
Maria D Pinazo-Dur&aacute;n,1,* Carmen Galbis-Estrada,1,* Sheila Pons-V&aacute;zquez,1 Jorge Cant&uacute;-Dibildox,2 Carla Marco-Ram&iacute;rez,1 Javier Ben&iacute;tez-del-Castillo21Ophthalmic Research Unit Santiago Grisolia, Department of Surgery/Ophthalmology, Faculty of Medicine, University of Valencia, Valencia, Spain; 2Department of Ophthalmology, Hospital of Jerez, Jerez de la Frontera, Spain*These authors contributed equally to this workBackground: Women, and those older than 65 years of age, are particularly susceptible to dry eye disorders (DEDs). Inflammation is clearly involved in the pathogenesis of DEDs, and there is mounting evidence on the antioxidant and …
Changes in physical activity among coronary and hypertensive patients: A longitudinal study using the Health Action Process Approach
2017
Objectives: Physical activity (PA) is a key factor in cardiovascular disease prevention. Through the Health Action Process Approach (HAPA), the present study investigated the process of change in PA in coronary patients (CPs) and hypertensive patients (HPs). Design: Longitudinal survey study with two follow-up assessments at 6 and 12 months on 188 CPs and 169 HPs. Main outcome measures: Intensity and frequency of PA. Results: A multi-sample analysis indicated the equivalence of almost all the HAPA social cognitive patterns for both patient populations. A latent growth curve model showed strong interrelations among intercepts and slopes of PA, planning and maintenance self-efficacy, but chan…
Relationship between albumin excretion rate and aortic stiffness in untreated essential hypertensive patients
2004
. Objectives. To evaluate, in a group of nondiabetic essential hypertensive patients with normal renal function, the relationship between albumin excretion rate (AER) and carotid-femoral pulse wave velocity (PWV), as an index of aortic stiffness. Design. Cross-sectional study. Setting. Outpatient hypertension clinic. Subjects. Seventy patients with mild-to-moderate essential hypertension, aged 42 ± 8 years, never pharmacologically treated. All subjects underwent routine laboratory tests, 24-h ambulatory blood pressure (BP) monitoring, measurement of carotid-femoral PWV, by means of a computerized method, and AER. Results. Microalbuminuric patients (AER ≥ 20 μg min−1; n = 19), when comp…
The Effects of an Essential Oil and an Amine Fluoride/Stannous Fluoride Mouthrinse on Supragingival Plaque Regrowth
2008
Background: The side effects of chlorhexidine (CHX) have stimulated the search for alternative antiplaque agents such as amine fluoride/stannous fluoride (ASF) and essential oils (EO). The aim of the study was to investigate the plaqueinhibiting effects of two commercially available mouthrinses containing ASF and EO, respectively. Methods: The study was an observer-masked, randomized, 5 · 5 Latin square cross-over design, balanced for carryover effects, involving 15 volunteers in a 4-day plaque regrowth model. A 0.12% CHX rinse and a saline solution served as positive and negative controls, respectively. On day 1, subjects received professional prophylaxis, suspended oral hygiene measures, …