Search results for "Ink"
showing 10 items of 4279 documents
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
2013
In 2007, 250 families with X-linked intellectual disability (XLID) were screened for mutations in genes on the X-chromosome, and in 4 of these families, mutations in the ZDHHC9 gene were identified. The ID was either isolated or associated with a marfanoid habitus. ZDHHC9 encodes a palmitoyl transferase that catalyzes the posttranslational modification of NRAS and HRAS. Since this first description, no additional patient with a ZDHHC9 mutation has been reported in the literature. Here, we describe a large family in which we identified a novel pathogenic ZDHHC9 nonsense mutation (p.Arg298*) by parallel sequencing of all X-chromosome exons. The mutation cosegregated with the clinical phenotyp…
Adaptive modes of rumination: the role of subjective anger.
2015
Rumination has been demonstrated to have negative consequences on affect, behaviour, and physiological markers. Recent studies, however, suggest that distinct "modes" of anger-associated rumination may lead to several positive consequences. Previous research primarily used recall procedures of anger episodes to elicit anger. By contrast, the present study focused on the effect of subjective anger on the process of rumination and tested its effects in a "staged" social interaction where a confederate provoked participants. Subsequently, participants engaged in rumination about the anger-eliciting event either in an abstract-distanced or a concrete-immersed rumination mode. Results showed an …
[Cardiac arrhythmias in hypertensive subjects with and without left ventricular hypertrophy compared to the circadian profile of the blood pressure].
1990
To evaluate possible correlations between cardiac arrhythmias and circadian pattern of blood pressure (BP) and of heart rate (HR), we studied 2 groups of 20 males with stable arterial hypertension of mild to moderate entity, with (Group I) or without (Group II) left ventricular hypertrophy (LVH). In patients with LVH the mean age (56 vs 46 years), the duration of the hypertensive state (48.1 vs 15.7 months), the thickening of interventricular septum (IVS; 13.7 vs 9.6 mm) and of the posterior wall of the left ventricle (13.2 vs 9.2 mm) and the mass of LV (149.8 vs 99.7 g/m2) were significantly greater (p less than 0.01). On the contrary, the 2 groups did not show significant differences conc…
PAI-1 plasma levels in a general population without clinical evidence of atherosclerosis: relation to environmental and genetic determinants.
1998
Abstract —Plasminogen activator inhibitor-1 (PAI-1) plasma levels have been consistently related to a polymorphism (4G/5G) of the PAI-1 gene. The renin-angiotensin pathway plays a role in the regulation of PAI-1 plasma levels. An insertion ( I )/deletion ( D ) polymorphism of the angiotensin-converting enzyme (ACE) gene has been related to plasma and cellular ACE levels. In 1032 employees (446 men and 586 women; 22 to 66 years old) of a hospital in southern Italy, we investigated the association between PAI-1 4G/5G and the ACE I/D gene variants and plasma PAI-1 antigen levels. None of the individuals enrolled had clinical evidence of atherosclerosis. In univariate analysis, PAI-1 levels we…
Population-level risks of alcohol consumption by amount, geography, age, sex, and year: a systematic analysis for the Global Burden of Disease Study …
2022
Background: The health risks associated with moderate alcohol consumption continue to be debated. Small amounts of alcohol might lower the risk of some health outcomes but increase the risk of others, suggesting that the overall risk depends, in part, on background disease rates, which vary by region, age, sex, and year. Methods: For this analysis, we constructed burden-weighted dose-response relative risk curves across 22 health outcomes to estimate the theoretical minimum risk exposure level (TMREL) and non-drinker equivalence (NDE), the consumption level at which the health risk is equivalent to that of a non-drinker, using disease rates from the Global Burden of Diseases, Injuries, and …
Improvements in Empathy and Cognitive Flexibility after Court-Mandated Intervention Program in Intimate Partner Violence Perpetrators: The Role of Al…
2016
Research assessing the effectiveness of intervention programs for intimate partner violence (IPV) perpetrators has increased considerably in recent years. However, most of it has been focused on the analysis of psychological domains, neglecting neuropsychological variables and the effects of alcohol consumption on these variables. This study evaluated potential neuropsychological changes (emotional decoding, perspective taking, emotional empathy and cognitive flexibility) and their relationship with alcohol consumption in a mandatory intervention program for IPV perpetrators, as well as how these variables affect the risk of IPV recidivism. The sample was composed of 116 individuals with hi…
Gambling in nursing students of the University of Palermo.
2020
INTRODUCTION: Gambling disorder is recognized as a psychiatric disorder. It is shown that the prevalence of pathological gambling is on the rise among university students, especially involving students attending the nursing degree course. The aim of the study was to estimate the prevalence of gambling's problem and to analyze the associated factors in the population of nursing students at the University of Palermo. MATERIAL AND METHODS: It's a cross-sectional study. In April 2019, a self-administered, anonymous and voluntary questionnaire was provided to students who attend daily lessons of the 3-years nursing degree course of University of Palermo, after they gave informed consent. The que…
Comparing subjective intoxication with risky single-occasion drinking in a European sample.
2020
In most epidemiological literature, harmful drinking—a drinking pattern recognized as closely linked to alcohol-attributable diseases—is recorded using the measure risky single-occasion drinking (RSOD), which is based on drinking above a certain quantity. In contrast, subjective intoxication (SI) as an alternative measure can provide additional information, including the drinker’s subjective perceptions and cultural influences on alcohol consumption. However, there is a lack of research comparing both. The current article investigates this comparison, using data from the Standardized European Alcohol Survey from 2015. We analysed the data of 12,512 women and 12,516 men from 17 European coun…
Affective modulation of conditioned eyeblinks
2009
Affective states are known to modulate reflexive actions. Aversive states potentiate defensive reflexes while appetitive states diminish them. The present study examined whether the same holds for associatively learned defensive eyeblinks to mild, initially neutral auditory stimuli. First, delay eyeblink conditioning was applied to human participants while they viewed emotionally neutral images. Next, the conditioned eyeblink responses (CRs) of the participants were tested during the viewing of unpleasant, neutral, or pleasant images. The most vigorous CRs were found during the unpleasant images, although they did not differ between neutral and pleasant images. The results add to the motiva…
Angiotensin II AT1 receptor gene polymorphism and microalbuminuria in essential hypertension.
2001
The objective of this study was to analyze the relationship of polymorphisms of the angiotensin II AT1 receptor gene with microalbuminuria in a group of young adults with essential hypertension. Essential hypertensives, less than 50 years old, never previously treated with antihypertensive drugs, and in absence of diabetes mellitus were included. Office blood pressure (BP), 24-h ambulatory BP monitoring, urinary albumin excretion (UAE) measurements, and DNA analysis were performed. Polymorphisms of the angiotensin II AT1-receptor gene (A1166C and C573T) were studied by polymerase chain reaction and single-strand conformation polymorphism techniques. One hundred eighty-three patients, 49 (27…