Search results for "YOUNG"
showing 10 items of 5812 documents
Achados orais na síndrome de williams-beuren
2017
Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. Material and Methods: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Results: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. Conclusions: The present results contr…
Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.
2017
Background Inhibitory antibodies towards enzyme replacement therapy (ERT) are associated with disease progression and poor outcome in affected male patients with lysosomal disorders such as Fabry disease (FD). However, little is known about the impact of immunosuppressive therapy on ERT inhibition in these patients with FD. Methods In this retrospective study, we investigated the effect of long-term immunosuppression on ERT inhibition in male patients with FD (n = 26) receiving immunosuppressive therapy due to kidney (n = 24) or heart (n = 2) transplantation. Results No ERT-naive transplanted patient (n = 8) developed antibodies within follow-up (80 ±72 months) after ERT initiation. Seven (…
Long-term physical activity modulates brain processing of somatosensory stimuli: Evidence from young male twins.
2016
Leisure-time physical activity is a key contributor to physical and mental health. Yet the role of physical activity in modulating cortical function is poorly known. We investigated whether precognitive sensory brain functions are associated with the level of physical activity. Physical activity history (3-yr-LTMET), physiological measures and somatosensory mismatch response (sMMR) in EEG were recorded in 32 young healthy twins. In all participants, 3-yr-LTMET correlated negatively with body fat%, r = −0.77 and positively with VO2max, r = 0.82. The fat% and VO2max differed between 15 physically active and 17 inactive participants. Trend toward larger sMMR was seen in inactive compared to ac…
Watching happy faces potentiates incentive salience but not hedonic reactions to palatable food cues in overweight/obese adults
2019
International audience; ‘Wanting’ and ‘liking’ are mediated by distinct brain reward systems but their dissociation in human appetite and overeating remains debated. Further, the influence of socioemotional cues on food reward is little explored. We examined these issues in overweight/obese (OW/OB) and normal-weight (NW) participants who watched food images varying in palatability in the same time as videoclips of avatars looking at the food images while displaying facial expressions (happy, disgust or neutral) with their gaze directed only toward the food or consecutively toward the food and participants. We measured heart rate (HR) deceleration as an index of attentional/incentive salienc…
Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with cli…
2020
To evaluate the feasibility of acoustic radiation force impulse point shear wave elastography (ARFI-pSWE) of the liver and spleen in patients with Gaucher disease type 1 (GD1), and to assess correlations between organ stiffness and clinico-radiologic data, particularly the GD1 Severity Scoring System (GD-DS3).We retrospectively evaluated the results of ARFI-pSWE as measures of liver and spleen stiffness in 57 patients with GD1. The feasibility of the method was assessed. Correlations between elastography data and clinical data related to the metabolic syndrome, laboratory tests, and GD1-related clinico-radiologic data (bone marrow burden score, GD-DS3) were assessed.ARFI-pSWE provided relia…
Epidemiology and Microbiology of Skin and Soft Tissue Infections: Preliminary Results of a National Registry
2018
Skin and soft tissue infections (SSTIs) represent a wide range of clinical conditions characterized by a considerable variety of clinical presentations and severity. Their aetiology can also vary, with numerous possible causative pathogens. While other authors previously published analyses on several types of SSTI and on restricted types of patients, we conducted a large nationwide surveillance programme on behalf of the Italian Society of Infectious and Tropical Diseases to assess the clinical and microbiological characteristics of the whole SSTI spectrum, from mild to severe life-threatening infections, in both inpatients and outpatients. Twenty-five Infectious Diseases (ID) Centres throu…
The molecular epidemiology of HIV-1 in the Comunidad Valenciana (Spain): analysis of transmission clusters
2017
AbstractHIV infections are still a very serious concern for public heath worldwide. We have applied molecular evolution methods to study the HIV-1 epidemics in the Comunidad Valenciana (CV, Spain) from a public health surveillance perspective. For this, we analysed 1804 HIV-1 sequences comprising protease and reverse transcriptase (PR/RT) coding regions, sampled between 2004 and 2014. These sequences were subtyped and subjected to phylogenetic analyses in order to detect transmission clusters. In addition, univariate and multinomial comparisons were performed to detect epidemiological differences between HIV-1 subtypes, and risk groups. The HIV epidemic in the CV is dominated by subtype B i…
The PROSIT Cohort of Infliximab Biosimilar in IBD: A Prolonged Follow-up on the Effectiveness and Safety Across Italy.
2019
BACKGROUND We report a prospective, nationwide cohort evaluating the safety and effectiveness of CT-P13. METHODS A structured database was used to record serious adverse events (SAEs), clinical remission/response, inflammatory biomarkers (CRP and calprotectin), and endoscopic findings. RESULTS Eight hundred ten patients with inflammatory bowel disease (IBD) (452 Crohn's disease [CD]) were enrolled. Four hundred fifty-nine patients were naive to anti-TNFα (group A), 196 had a previous exposure (group B), and the remaining 155 were switched to CT-P13 (group C). All patients were included in the safety evaluation with a mean follow-up of 345 ± 215 days and a total number of 6501 infusions. One…
Matching for the MICA-129 polymorphism is beneficial in unrelated hematopoietic stem cell transplantation.
2016
Major histocompatibility complex class I polypeptide-related sequence A (MICA) is a highly polymorphic ligand of the activating NKG2D receptor on natural killer (NK) cells, γδ-T cells, and NKT cells. MICA incompatibilities have been associated with an increased graft-versus-host disease (GVHD) incidence, and the MICA-129 (met/val) dimorphism has been shown to influence NKG2D signaling in unrelated hematopoietic stem cell transplantation (uHSCT). We investigated the effect of MICA matching on survival after uHSCT. We sequenced 2172 patients and their respective donors for MICA. All patients and donors were high-resolution HLA-typed and matched for 10/10 (n = 1379), 9/10 (n = 636), or 8/10 (n…
Growth factors and IL-17 in hereditary angioedema
2015
Hereditary angioedema (HAE) is a rare autosomal dominant disorder, due to C1-inhibitor deficiency, which causes episodic swellings of subcutaneous tissues, bowel walls and upper airways which are disabling and potentially life-threatening. We evaluated n = 17 patients with confirmed HAE diagnosis in basal and crisis state and n = 19 healthy subjects. The samples were tested for IL-17, FGFb, G-CSF and GM-CSF, using Bio-plex kit. Data analysis was performed via nonparametric Spearman’s correlations and two sets of linear mixed models. When comparing HAE subjects during basal and crisis states, we found out significantly (i.e., p value <0.05) higher values in crisis states rather than in basal…