Search results for " DISORDERS"
showing 10 items of 4492 documents
Assessing inter- and intra-individual cognitive variability in patients at risk for cognitive impairment: the case of minimal hepatic encephalopathy
2014
Recent evidence reveals that inter- and intra-individual variability significantly affects cognitive performance in a number of neuropsychological pathologies. We applied a flexible family of statistical models to elucidate the contribution of inter- and intra-individual variables on cognitive functioning in healthy volunteers and patients at risk for hepatic encephalopathy (HE). Sixty-five volunteers (32 patients with cirrhosis and 33 healthy volunteers) were assessed by means of the Inhibitory Control Task (ICT). A Generalized Additive Model for Location, Scale and Shape (GAMLSS) was fitted for jointly modeling the mean and the intra-variability of Reaction Times (RTs) as a function of so…
Parallel reduction of plasma levels of high and low molecular weight kininogen in patients with cirrhosis
1999
SummaryLittle is known about the regulation of high-molecular-weight-kininogen (HK) and low-molecular-weight-kininogen (LK) or the relationship of each to the degree of liver function impairment in patients with cirrhosis. In this study, we evaluated HK and LK quantitatively by a recently described particle concentration fluorescence immunoassay (PCFIA) and qualitatively by SDS PAGE and immunoblotting analyses in plasma from 33 patients with cirrhosis presenting various degrees of impairment of liver function. Thirty-three healthy subjects served as normal controls. Patients with cirrhosis had significantly lower plasma levels of HK (median 49 μg/ml [range 22-99 μg/ml]) and LK (58 μg/ml [15…
Factors That Contribute or Impede the Physical Health Recovery of Women Exposed to Intimate Partner Violence: A Longitudinal Study
2012
Abstract Background Several cross-sectional studies have demonstrated the negative impact that intimate partner violence (IPV) has on the physical health of women. However, longitudinal studies are needed to establish the time course of this effect. This study assessed the physical health course of female IPV victims and established the factors that enhance or impede their recovery. Methods Women ( n = 91) who participated in a previous cross-sectional study (T-1) and were either victims of physical/psychological IPV ( n = 33) or psychological IPV ( n = 23) were evaluated 3 years later (T-2). A control group of women ( n = 35) was included for comparison. Structured interviews provided …
Determinants of Dyspnea in Patients with Different Grades of Stable Asthma
2003
Dyspnea is a main feature of symptomatology in asthma, and its perception does not necessarily correlates well with airway obstruction. The aim of this study was twofold: (1) to identify factors determining the subjective degree of dyspnea in patients with different grades of stable bronchial asthma and (2) to compare various clinical methods existing for grading dyspnea. The investigation comprised 153 outpatients with stable asthma. The parameters studied were the following: demographic characteristic of subjects, baseline dyspnea score by means of three clinical instruments (baseline dyspnea index [BDI], Medical Research Council [MRC] scale, and modified Borg scale), asthma severity, sta…
What proportion of chronic obstructive pulmonary disease outpatients is eligible for inclusion in randomized clinical trials?
2013
<b><i>Background and Objective:</i></b> We aimed to explore to what extent an unselected population of chronic obstructive pulmonary disease (COPD) outpatients would be eligible for inclusion in randomized clinical trials (RCTs). <b><i>Methods:</i></b> Retrospective analysis of the clinical records of outpatient subjects with an ascertained diagnosis of COPD. COPD outpatients were assessed against the following inclusion criteria: 40 < age < 80 years, current or former smokers, forced expiratory volume in the first second (FEV<sub>1</sub>) <70% predicted, no long-term oxygen therapy, no other concomitant lung diseases and …
Emotional eating as a mediator between anxiety and cholesterol in population with overweight and hypertension
2016
Although the relationship between cholesterol and mood states (especially anxiety) has been well studied, few researches have included the role of eating styles in this relationship. This study explored the associations among eating styles, negative emotional symptoms, and levels of cholesterol (and other medical variables) in a population with hypertension and overweight or obesity, analyzing the possible mediation mechanisms involved. A cross-sectional study was conducted in 68 adults with hypertension and overweight/obesity, and stepwise multiple regression analysis and mediation analyses were carried out to test the hypothesis that eating styles mediate the relationship between negative…
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications
2020
Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p.(Ser493Cys), and the oldest known individual age 53 years. The KOGS phenotype includes characteristic facial features, tall stature, scoliosis, hyperelastic thin skin, lipodystrophy, variable intellectual and neurological deterioration, and abnormalities on brain imaging. Long-term outcome is unknown. Our cases confirm the phenotypic spectrum includes progressive flexion contrac…
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B
2017
To evaluate the natural course of disease progression in patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB), identify potential end points for future therapy trials, and characterize biomarkers related to the disease.A prospective, multicenter study was conducted. Baseline, 6-month, and 12-month assessments included neurodevelopmental status (Bayley Scales of Infant Development, Third edition), adaptive status (Vineland Adaptive Behavior Scales, Second Edition), volumetric brain magnetic resonance imaging, cerebrospinal fluid heparan sulfate, and urine glycosaminoglycan (GAG) measurements.Nineteen patients aged 1.6-31.7 years were enrolled. Over 12 months, cognition,…
Genetic variations of the bitter taste receptor TAS2R38 are associated with obesity and impact on single immune traits
2015
Scope: Changes in genetic variations affecting the taste receptor, type 2, member 38 (TAS2R38) may identify the interacting mechanism leading to obesity and potential associations with proteins partaking in innate immunity, such as surfactant protein D (SPD) and mannan-binding lectin (MBL). Methods and results: We evaluated haplotypes of the bitter-taste receptor TAS2R38 in an identification sample of 210 women in different weight conditions, including anorexia nervosa and obesity. The association with SPD and MBL was tested in an independent sample picturing general population (n = 534). The relationship with obesity was validated in an extended final sample of 1319 participants. In the sa…
Higher vitamin B12 levels in neurodevelopmental disorders than in healthy controls and schizophrenia
2020
Recent studies suggest that both high and low levels of vitamin B12 (vitB12) may have negative health impacts. We measured VitB12 in patients with the Neurodevelopmental disorders (ND) (n = 222), comprised of Autism Spectrum Disorders, specific Developmental disorders, and Intellectual Disability (aged 2-53 years), schizophrenia (n = 401), and healthy controls (HC) (n = 483). Age-and gender-adjusted vitB12 z-scores were calculated by comparisons with a reference population (n = 76 148). We found higher vitB12 in ND (median 420 pmol/L, mean z-score: 0.30) than in HC (316 pmol/L, z-score: 0.06, P < .01) and schizophrenia (306 pmol/L, z-score: -0.02, P < .001), which was significant after adju…