Search results for "ROMA"
showing 10 items of 13919 documents
Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants
2016
Background & Aim: Patients with Gaucher disease type 1 (GD1) show an altered lipid profile and a certain degree of insulin resistance, which might contribute to cholelithiasis (CL) and could possibly be associated with ABCG5/ABCG8 gene variants. We aimed to investigate the prevalence of CL in Caucasian adult patients with GD1 and the possible risk factors, including gene variants of the ABCG5/ABCG8 genes.
 Methods: 61 Caucasian patients with GD1 (38 female/23male), aged 18-62 years and 61 healthy subjects matched for age, gender and BMI, without CL, for comparison of lipid profiles. Data before start of enzyme replacement therapy (ERT) were recorded: clinical, haematological, sever…
Review with novel markers facilitates precise categorization of 41 cases of diagnostically challenging, “undifferentiated small round cell tumors”. A…
2017
Abstract Background Despite extensive immunohistochemical (IHC) and molecular studies combined with morphologic findings, a group of round/ovoid cell tumors histologically similar to Ewing sarcomas (ES) but lacking EWSR1-rearrangements may remain unclassifiable. Design We retrospectively analyzed 41 Ewing-like tumors (formalin-fixed, paraffin-embedded) previously determined as negative or non-informative for EWSR1-rearrangements by FISH and/or RT-PCR. A new histopathology revision and additional IHC and molecular analyses were carried out in order to investigate whether additional IHC and/or molecular testing in combination with the morphological findings may help in reaching a definitive d…
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…
Internal exposure of firefighting instructors to polycyclic aromatic hydrocarbons (PAH) during live fire training
2019
Firefighting instructors in live fire training are inevitably exposed to emissions containing, carcinogenic PAH. The study investigated PAH uptake in a group of firefighting instructors during short-term exposure in live fire training by urinary biomonitoring. Six firefighting instructors (non-smokers) completed five 2 h-training sessions each in a carbonaceous-fired simulation unit using self-containing breathing apparatuses (SCBA). Complying with a minimum time interval of six days between the individual training sessions, the participants provided urine samples before and immediately after, as well as 1, 3, 6, 9, 11, and 18 h after each training session. Samples were analyzed for 10 mono…
Reductions in circulating endocannabinoid 2-arachidonoylglycerol levels in healthy human subjects exposed to chronic stressors
2016
Increasing evidence indicates that chronic stress, such as social isolation, plays an important role in the development of a variety of psychiatric and somatic disorders. Meanwhile, chronic stress imposed by prolonged isolation and confinement in the spacecraft is also one of the major concerns for the health of future interplanetary space travelers. Preclinical studies suggest that the peripheral endocannabinoid (eCB) system is involved in the regulation of the stress response and eCB signaling is implicated in the pathogenesis of stress-related diseases. However, there are only few human studies addressing this topic, of which most focusing on patients who have already developed a certain…
The effect of longitudinal chromatic aberration on the lag of accommodation and depth of field.
2016
Purpose Longitudinal chromatic aberration is present in all states of accommodation and may play a role in the accommodation response and the emmetropisation process. We study the change of the depth of field (DOFi) with the state of accommodation, taking into account the longitudinal chromatic aberration. Methods Subjective DOFi was defined as the range of defocus beyond which the blur of the target (one line of optotypes of 0.1 logMAR shown on a black-and-white microdisplay, seen through different colour filters) was perceived as objectionable. The subject's eye was paralysed and different, previously-measured accommodative states (corresponding to the accommodative demands of 0D, 2D and …
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
2019
Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low-visual acuity. Six genes have been associated with this rare autosomal recessively inherited disease, including the GNAT2 gene encoding the catalytic α-subunit of the G-protein transducin which is expressed in the cone photoreceptor outer segment. Out of a cohort of 1,116 independent families diagnosed with a primary clinical diagnosis of ACHM, we identified 23 patients with ACHM from 19 independent families with likely causative mutations in GNAT2, representing 1.7% of our large ACHM cohort. In total 22 different potentially disease-causing…
Measuring and modeling real-time responses to music: the dynamics of tonality induction.
2003
We examined a variety of real-time responses evoked by a single piece of music, the organ Duetto BWV 805 by J S Bach. The primary data came from a concurrent probe-tone method in which the probe-tone is sounded continuously with the music. Listeners judged how well the probe tone fit with the music at each point in time. The process was repeated for all probe tones of the chromatic scale. A self-organizing map (SOM) [Kohonen 1997 Self-organizing Maps (Berlin: Springer)] was used to represent the developing and changing sense of key reflected in these judgments. The SOM was trained on the probe-tone profiles for 24 major and minor keys (Krumhansl and Kessler 1982 Psychological Review89 334–…
Virtual endoscopy of the inner ear and the auditory canal.
2000
To assess the role of virtual endoscopy (VE) in the examination of intracisternal structures and of the inner ear, we studied the anatomy of the labyrinth and internal auditory canal using the original CT slices and VE on the unaffected side in three female and three male patients, age range 3–46 years, with contralateral retrocochlear hearing loss. We also examined seven patients with different pathological findings. VE was performed using an advanced postprocessing program with high- resolution 3D data sets of CT (1–1.5 mm thickness, pitch 1.25) and MRI-CISS-3D (constructive interference in steady state) images of the basal cisterns (1.5 T, slice thickness 0.7–1 mm). VE provides an endosc…
Risk assessment of benzene in food samples of Iran's market
2018
Abstract The concentration of benzene in ninety-eight collected food and drink samples (carbonated beverage, fruit juice, pickle, lime juice, mayonnaise and salad dressing, 16 samples from each) from Iran local markets were investigated using gas chromatography equipped with flame ionization detector (GC-FID). Moreover, the correlation of benzene concentration with sodium benzoate and ascorbic acid concentrations was assessed. Benzene concentration in carbonated beverages, fruit juices, pickle, lime juices, mayonnaise and salad dressing were 3.57 ± 1.70, 5.17 ± 3.63, 4.37 ± 2.24, 4.99 ± 0.54, 1.38 ± 0.87 and 1.47 ± 0.83 μg/L, respectively, being in all cases below the acceptable limit (10 μ…