Search results for "ROLE"
showing 10 items of 1994 documents
Psychopathological and emotional deficits in myotonic dystrophy
1998
OBJECTIVE—To evaluate psychopathological disturbances in patients with myotonic dystrophy (MD) and compare patients with MD to both patients with facioscapulohumeral dystrophy (FSHD) and healthy control subjects. METHODS—A semistructured interview was used to determine DSM III-R criteria for major depressive episodes, dysthymic episodes, and generalised anxiety. The Montgomery and Asberg and the Hamilton depressive scales, the Covi and Tyrer anxiety scales, the Abrams and Taylor scale for emotional blunting, and the depressive mood scale were all used in the study. Subjects were also asked to complete questionnaires for physical and social anhedonia. RESULTS—Fifteen patients with MD, 11 pat…
A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol
2007
Objectives— The PCSK9 gene, encoding a pro-protein convertase involved in posttranslational degradation of low-density lipoprotein receptor, has emerged as a key regulator of plasma low-density lipoprotein cholesterol. In African-Americans two nonsense mutations resulting in loss of function of PCSK9 are associated with a 30% to 40% reduction of plasma low-density lipoprotein cholesterol. The aim of this study was to assess whether loss of function mutations of PCSK9 were a cause of familial hypobetalipoproteinemia and a determinant of low-plasma low-density lipoprotein cholesterol in whites. Methods and Results— We sequenced PCSK9 gene in 18 familial hypobetalipoproteinemia subjects and i…
Evidence of the role of short-term exposure to ozone on ischaemic cerebral and cardiac events: the Dijon Vascular Project (DIVA)
2010
Objectives To confirm the effects of short-term exposure to ozone (O 3 ) on ischaemic heart and cerebrovascular disease. Methods Daily levels of urban O 3 pollution, the incidence of first-ever, recurrent, fatal and non-fatal ischaemic cerebrovascular events (ICVE) and myocardial infarction (MI) were correlated using a case-crossover design. The authors analysed 1574 ICVE and 913 MI that occurred in Dijon, France (150 000 inhabitants) from 2001 to 2007. Sulfur dioxide (SO 2 ), nitrogen dioxide (NO 2 ), carbon monoxide (CO) and particulate matter with an aerodiameter of ≤10 μg/m 3 (PM 10 ) were used to create bi-pollutant models. Using the adjusted OR, the effects of O 3 exposure were calcul…
Time expenditure in patient-related care provided by specialist palliative care nurses in a community hospice service
2004
Although the importance of specialist palliative care in home care programmes for terminally ill patients is well known, German community hospice services did not begin to employ nurses who had specialized in palliative care until the early 1990s. The general tasks of these nurses are sufficiently well defined, but no comprehensive data of their daily workload are available in Germany to date. The present article examines time expenditure in direct patient-related care at the community-based hospice service in Mainz, Germany, by analysing time registration sheets concerning 351 patients who received care from January 2000 until December 2002. Fifty-five per cent of care time spent on each …
BODY MASS INDEX DOES NOT CHANGE BEFORE PARKINSON'S DISEASE ONSET.
2008
Background and purpose: Previous studies on the association between Parkinson’s disease (PD) and body mass index (BMI) have reported conflicting results. We investigated the relationship between PD and BMI by a case–control study. Methods: PD patients were randomly matched to healthy individuals by sex and age. BMI distribution in cases has been compared with BMI of controls and odd ratios (ORs) with 95% CI were calculated. Results: We included 318 PD patients and 318 controls. We observed no association between PD and BMI. BMI distribution in cases and controls was similar also when we adjusted for diabetes, hypercholesterolemia and the time elapsed between PD onset and the interview (O…
Quantification of epicardial fat with cardiac CT angiography and association with cardiovascular risk factors in symptomatic patients: From the ALTER…
2019
PURPOSE We aimed to assess the association between features of epicardial adipose tissue and demographic, morphometric and clinical data, in a large population of symptomatic patients with clinical indication to cardiac computed tomography (CT) angiography. METHODS Epicardial fat volume (EFV) and adipose CT density of 1379 patients undergoing cardiac CT angiography (918 men, 66.6%; age range, 18–93 years; median age, 64 years) were semi-automatically quantified. Clinical variables were compared between diabetic and nondiabetic patients to assess potential differences in EFV and adipose CT density. Multiple regression models were calculated to find the clinical variables with a significant a…
Analysis of thiamine transporter genes in sporadic beriberi
2014
Abstract Objective Thiamine or vitamin B 1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3 , and SLC25 A19 , in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency. Methods A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B 1 serum levels, his clinical picture was rapidly reverted by high-dose in…
Saliva variations in gastro-oesophageal reflux disease.
2007
Abstract Objectives The protective role of saliva in the case of oesophageal exposition to gastric acid has long been studied but some contradictions still remain. The main end-point of this study was to evaluate if a qualitative and quantitative alteration in salivary secretion exists in patients affected by GERD. Methods One hundred and twenty patients (T group) with clinically and endoscopically diagnosed GERD, and 98 healthy subjects (C group) have been evaluated; salivary tests (i.e. basal flow rate, stimulated flow rate, pH, [Na + ] and [K + ]) were performed, socio-demographical variables and oral GERD-related symptoms were taken into account. SPSS 10.5 software was used for statisti…
A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia
2013
Objective— In familial hypobetalipoproteinemia, fatty liver is a characteristic feature, and there are several reports of associated cirrhosis and hepatocarcinoma. We investigated a large kindred in which low-density lipoprotein cholesterol, fatty liver, and hepatocarcinoma displayed an autosomal dominant pattern of inheritance. Approach and Results— The proband was a 25-year-old female with low plasma cholesterol and hepatic steatosis. Low plasma levels of total cholesterol and fatty liver were observed in 10 more family members; 1 member was affected by liver cirrhosis, and 4 more subjects died of either hepatocarcinoma or carcinoma on cirrhosis. To identify the causal mutation in this f…
Long-Term Efficacy and Safety of the Microsomal Triglyceride Transfer Protein Inhibitor Lomitapide in Patients With Homozygous Familial Hypercholeste…
2017
Homozygous familial hypercholesterolemia is a genetic disorder characterized by low-density lipoprotein (LDL)-receptor dysfunction, markedly elevated levels of LDL-cholesterol (LDL-C) and premature atherosclerosis. Patients are often poorly responsive to conventional lipid-lowering therapies that upregulate LDL-receptor expression.1 Lomitapide inhibits microsomal triglyceride transfer protein, which lipidates nascent apolipoprotein (apo)B-containing lipoproteins. In a pivotal 78-week open-label trial, lomitapide, titrated to the maximal tolerable dose, decreased LDL-C by 50% at the end of the efficacy phase (week 26) in patients with homozygous familial hypercholesterolemia.2 The principal …