Search results for "upe"
showing 10 items of 7447 documents
Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation …
2010
We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, and severe sleep apnea. Chromosome analysis of blood lymphocytes showed 75% ring (18) cells and 25% normal cells, karyotype mos 46,XY,r(18)(::p11→q21::)[75]/46,XY[25]. His mother was phenotypically normal except for a double ureter and bifid renal pelvis as in his son. She had a supernumerary ring (18) in 10% of blood lymphocytes, karyotype mos 47,XX,+r(18)(::p11→q21::)[10]/46,XX[90]. Familial ring (18) is a rare cytogenetic abnormality. This is t…
Temporal lobe grey matter volume in schizophrenia is associated with a genetic polymorphism influencing glycogen synthase kinase 3-beta activity
2010
At the crossroad of multiple pathways regulating trophism and metabolism, glycogen synthase kinase (GSK)3 is considered a key factor in influencing the susceptibility of neurons to harmful stimuli (neuronal resilience) and is a target for several psychiatric drugs that directly inhibit it or increase its inhibitory phosphorylation. Inhibition of GSK3 prevents apoptosis and could protect against the neuropathological processes associated with psychiatric disorders. A GSK3-beta promoter single-nucleotide polymorphism (rs334558) influences transcriptional strength, and the less active form was associated with less detrimental clinical features of mood disorders. Here we studied the effect of r…
Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
2008
Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported to cause adult-onset autosomal dominant amyotrophic lateral sclerosis (FALS). In sporadic cases (SALS), de novo mutations in the SOD1 gene have occasionally been observed. All the SOD1 mutations are autosomal dominantly inherited with the exception of D90A. To date, in Italy, only two sporadic ALS cases carrying the D90A mutation have been reported in a homozygous state. We investigated for the presence of this mutation in 169 unrelated ALS patients from southern Italy. The genetic analysis revealed three ALS patients (1.8%) with mild phenotype carrying the homozygous D90A mutation.
Quantitative evaluation of oxidative stress status on peripheral blood in beta-thalassaemic patients by means of electron paramagnetic resonance spec…
2005
Summary High oxidative stress status (OSS) is known to be one of the most important factors determining cell injury and consequent organ damage in thalassaemic patients with secondary iron overload. Using an innovative hydroxylamine ‘radical probe’ capable of efficiently trapping majority of oxygen-radicals including superoxide we measured, by electron paramagnetic resonance (EPR) spectroscopy, OSS in peripheral blood of 38 thalassaemic patients compared with sex-/age-matched healthy controls. Thalassaemic patients showed sixfold higher EPR values of OSS than controls. Significantly higher EPR values of OSS were observed in those with a severe phenotype (thalassaemia major, transfusion-depe…
Enormous hemangiosarcoma of the heart
1994
This report describes a 26-year-old patient with hemangiosarcoma of the heart and summarizes the clinicopathological features in previous reports of patients with cardiac angiosarcoma. The patient was admitted to our hospital because of a syncope and one episode of nocturnal dyspnea and hemoptysis. In his history he complained of progressive weakness and loss of weight over the past 2 months. Echocardiography and computed tomography of the chest showed inhomogeneous masses in the pericardial cavity completely surrounding the heart and involving the ascending aorta and the superior vena cava. Histological examination of the tissue obtained from the mass by fine needle technique revealed a po…
Prominence vs. aboutness in sequencing: a functional distinction within the left inferior frontal gyrus
2009
Prior research on the neural bases of syntactic comprehension suggests that activation in the left inferior frontal gyrus (lIFG) correlates with the processing of word order variations. However, there are inconsistencies with respect to the specific subregion within the IFG that is implicated by these findings: the pars opercularisor the pars triangularis. Here, we examined the hypothesis that the dissociation between parsopercularis and pars triangularis activation may reflect functional differences between clause-medial and clause-initial word order permutations, respectively. To this end, we directly compared clause-medial and clause-initial object-before-subject orders in German in a wi…
Mitochondrial dysfunction, persistent oxidative damage, and catalase inhibition in immune cells of naïve and treated Crohnʼs disease
2009
Background: Oxidative stress is considered a potential etiological factor for Crohn's disease (CD). We characterized the reactive oxygen species (ROS) generated in immune peripheral cells of CD patients, as well as their antioxidant enzyme status and the presence of oxidative damage. In addition, mitochondrial function (ΔΨm) was analyzed to detect the possible origin of ROS. Methods: Cells were obtained from patients at the onset of disease, prior to any treatment. Experiments were repeated when patients were in clinical remission. A set of experiments was carried out in a group of CD patients in persistent morphological remission. Controls were healthy volunteers who were not receiving any…
Functional connectivity analysis using whole brain and regional network metrics in MS patients
2016
In the present study we investigated brain network connectivity differences between patients with relapsing-remitting multiple sclerosis (RRMS) and healthy controls (HC) as derived from functional resonance magnetic imaging (fMRI) using graph theory. Resting state fMRI data of 18 RRMS patients (12 female, mean age ± SD: 42 ± 12.06 years) and 25 HC (8 female, 29.2 ± 5.38 years) were analyzed. In order to obtain information of differences in entire brain network, we focused on both, local and global network connectivity parameters. And the regional connectivity differences were assessed using regional network parameters. RRMS patients presented a significant increase of modularity in comparis…
Morphological and topographical characteristics of posterior supernumerary molar teeth: An epidemiological study on 25,186 subjects
2014
Objectives: To investigate the prevalence , gender difference , arch , morphology and position within the arch of supernumerary molar (SM) teeth in a referred Italian Caucasian population. Study D esign: Records of 25,186 young patients were evaluated. Only data related to supernumerary teeth in the posterior region of the jaws were analyzed. The diagnosis of hyperdontia was formulated during the clinical and radiological examinations based on panoramic radiographs. Statistical analysis was conducted at level of subjects in the assessment of prevalence of SMs and sex ratio. Statistical analysis was conducted at level of teeth according to their morphological and topographic characteristics.…
The Laparoscopic Approach to Control Intractable Pelvic Neuralgia: From Laparoscopic Pelvic Neurosurgery to the LION Procedure
2007
OBJECTIVE: To present different aspects and advantages of the laparoscopic approach to the pelvic nerves aimed at treating intractable pelvic neuralgia. METHODS: We report on a nonconsecutive series of 7 patients with different types and etiologies of chronic pelvic neuralgia, all of whom underwent laparoscopy. In all 7 cases, the neuralgia was refractory to medical management and had profound socioeconomic consequences for the patients. RESULTS: Techniques of laparoscopic transperitoneal neurolysis of several pelvic somatic nerves are described but also our technique of laparoscopic implantation of neuroprothesis for neuromodulation on somatic pelvic nerves or on autonomic pelvic nerves as…