Search results for "ROMA"
showing 10 items of 13919 documents
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
2012
Background: Rubinstein-Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and mental retardation and caused by mutations in the genes encoding for the transcriptional co-activators with intrinsic lysine acetyltransferase (KAT) activity CBP and p300. Previous studies have shown that neuronal histone acetylation is reduced in mouse models of RSTS. Methods: The authors identified different mutations at the CREBBP locus and generated lymphoblastoid cell lines derived from nine patients with RSTS carrying distinct CREBBP mutations that illustrate different grades of the clinical severity in the spectrum …
Retrospective study of a series of 850 patients with temporomandibular dysfunction (TMD). Clinical and radiological findings
2009
Objective: To define the clinical and radiological characteristics of the four most common presentations of temporomandibular dysfunction-myofascial pain (MFP), disc displacement with reduction (DDWR), disc displacement without reduction (DDWoR), and osteoarthrosis (OR)-and to identify the differences among them. Material and methods: The study comprised a series of 850 patients (121 males and 729 females) seen between May 2003 and December 2006 in Valencia University General Hospital (Spain) for temporomandibular joint disease (TMJD). An analysis was made of the possible etiological factors (stress, traumatisms, sleep disturbances, parafunctional habits, reason for consultation), possible …
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
2012
Contains fulltext : 110038.pdf (Publisher’s version ) (Closed access) Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for multiple exostoses and parietal foramina in PSS, the identity of the gene(s) associated with the ID and CFA phenotypes has remained elusive. Through characterization of independent subjects with balanced translocations and supportive comparative deletion mapping of PSS subjects, we have uncovered evidence that t…
Internal exposure of the general population to DEHP and other phthalates--determination of secondary and primary phthalate monoester metabolites in u…
2003
A number of phthalates and their metabolites are suspected of having teratogenic and endocrine disrupting effects. Especially the developmental and reproductive effects of di(2-ethylhexyl)phthalate (DEHP) are under scrutiny. In this study we determined the concentrations of the secondary, chain oxidized monoester metabolites of DEHP, mono(2-ethyl-5-hydroxyhexyl)phthalate (5OH-MEHP) and mono(2-ethyl-5-oxo-hexyl)phthalate (5oxo-MEHP) in urine samples from the general population. The utilization of the secondary metabolites minimized any risk of contamination by the ubiquitously present phthalate parent compounds. Included in the method were also the simple monoester metabolites of DEHP, dioct…
Costochondral graft with green-stick fracture used in reconstruction of the mandibular condyle : experience in 13 clinical cases
2008
Since its publication in 1920 by Gillies, costochondral grafts have been used by surgeons to replace an injured mandibular condyle and to reconstruct the temporomandibular joint. This procedure is currently applied in cases of congenital dysplasia, developmental defects, temporomandibular ankylosis, neoplastic disease, osteoarthritis and post-traumatic dysfunction. Over the years, various procedures for the reconstruction with this type of graft have been described. In 1989, Mosby and Hiatt described a technique for setting the graft securely, reducing the space between the graft and the mandibular area. In 1998, Monje and Martín-Granizo developed a variation of this method, enabling a prec…
Correlation of cerebral blood flow and treatment effects of repetitive transcranial magnetic stimulation in depressed patients.
2002
The aims of this study were to: (1) assess the effects of repetitive transcranial magnetic stimulation (rTMS) on brain activity in depressed patients as measured by single photon emission tomography (SPECT); (2) evaluate the predictive value of brain SPECT on the antidepressant efficacy of rTMS. Patients (n=17) received 1600 rTMS stimuli at a rate of 10 Hz, 5 days per week for 2 weeks to the left dorsolateral prefrontal cortex. Whole brain SPECT data were acquired using Tc99m-Bicisate. Regional cerebral blood flow (rCBF) was correlated with the % change in the 28-item Hamilton Depression Rating Scale Score (Δ-HDRS) and a semiquantitative region of interest (ROI) analysis was conducted. Prio…
Mobile phone base stations and adverse health effects: phase 1 of a population-based, cross-sectional study in Germany
2009
Objective: The aim of this first phase of a cross-sectional study from Germany was to investigate whether proximity of residence to mobile phone base stations as well as risk perception is associated with health complaints. Methods: The researchers conducted a population-based, multi-phase, cross-sectional study within the context of a large panel survey regularly carried out by a private research institute in Germany. In the initial phase, reported on in this paper, 30 047 persons from a total of 51 444 who took part in the nationwide survey also answered questions on how mobile phone base stations affected their health. A list of 38 health complaints was used. A multiple linear regression…
Sister chromatid exchange, (SCE), High-Frequency Cells (HFCs) and SCE distribution patterns in peripheral blood lymphocytes of Spanish adult smokers …
2014
According to the International Agency for Research on Cancer, smoking tobacco is a major cause of cancer in humans. It causes about half of all male cancer deaths and an ever increasing number of cancer deaths in females. The aim of this study was to establish whether cigarette smoking increases sister chromatid exchanges (SCEs) in peripheral blood lymphocytes in two Spanish population groups; light and heavy smokers. The mean number of High-Frequency Cells (HFCs) was determined and, the SCE distribution pattern among the chromosomes was analysed represented by a ratio described below. A local sample of 101 adult smokers (n = 48) and non-smokers (n = 53), aged from 18 to 49 years, was studi…
Fatal cranial injury in an individual from Messina (Sicily) during the times of the Roman Empire.
2013
Forensic and archaeological examinations of human skeletons can provide us with evidence of violence. In this paper, we present the patterns of two cranial lesions found on an adult male (T173) buried in a grave in the necropolis ‘Isolato 96’, Messina, Sicily, dating back to the Roman Empire (1st century BC - 1st century AD). The skull reveals two perimortem traumatic lesions, one produced by a sharp object on the right parietal bone and the other one on the left parietal bone, presumably the result of a fall. The interpretation of fracture patterns found in this cranium are an illustration of how forensic approaches can be applied with great benefit to archaeological specimens. 2013 Elsevi…
Mycotoxin Occurrence and Risk Assessment in Gluten-Free Pasta through UHPLC-Q-Exactive Orbitrap MS
2021
Celiac disease (CD) is a genetic-based autoimmune disorder which is characterized by inflammation in the small intestinal mucosa due to the intolerance to gluten. Celiac people should consume products without gluten, which are elaborated mainly with maize or other cereals. Contamination of cereals with mycotoxins, such as fumonisins (FBs) and aflatoxins (AFs) is frequently reported worldwide. Therefore, food ingestion is the main source of mycotoxin exposure. A new analytical method was developed and validated for simultaneous analysis of 21 mycotoxins in gluten-free pasta, commonly consumed by celiac population as an alternative to conventional pasta. Ultrahigh-performance liquid chromatog…