Search results for "BN"

Implicación de miRNAs en la toxicidad mediada por expansiones de repeticiones CTG en Distrofia Miotónica

2015

La distrofia miotónica tipo 1 (DM1) es una enfermedad neuromuscular causa por la expansión del triplete CTG en la región 3’ no codificante del gen DMPK. Las expansiones CUG en los transcritos DMPK mutantes forman una estructura en horquilla que secuestra diferentes factores nucleares provocando su falta de función parcial y la desregulación de la expresión génica a diferentes niveles. La mayoría de los defectos en la expresión génica se han reproducido en animales modelo para la enfermedad que expresan transcritos con repeticiones CUG de manera independiente a DMPK. En este trabajo nos propusimos analizar si un grupo de reguladores de la expresión génica está afectado por la toxicidad media…

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

2011

Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…

Fever of Unclear Origin and Cytopenia Because of Acute Splenic Sequestration in a Young Immunocompetent Carrier of Beta-Globin Mutation for Hb Vallet…

2008

Fever of unclear origin is a clinical challenge in medical practice. Infectious diseases, neoplasms, and collagen vascular illnesses are its main causes in adults and children. Acute splenic sequestration crises, a known potentially fatal complication of sickle cell disease and sickle beta-thalassemia, are uncommon in beta-heterozygosis. We describe a case of prolonged recurrent episodes of fever with spontaneous resolution, commencing at age 10 in a 15-year-old boy with a history of hypochromic microcytic anemia attributed to a thalassemic trait. He was admitted twice to our university hospital for continuous-remittent fever with a pruritic, macular evanescent Still's skin rash, severe spl…

Photoplethysmography Analysis of Artery Properties in Patients with Cardiovascular Diseases

2008

In this study arterial parameters of healthy subjects were compared to those of patients with cardiovascular diseases. The photoplethysmography (PPG) measurements of blood volume pulsations have been performed. Using a novel algorithm for analysis of simultaneously measured ear and finger PPG signals, arterial parameters were evaluated in representative groups of healthy subjects and patients with cardiovascular diseases. Digital volume pulse (DVP), pulse cycle duration (T), augmentation index (AIx), reflection index (RI) and transit time of reflected wave (RTT) were evaluated in every heartbeat cycle. Correlations between the AIx and RI, T and RTT, AIx and standard deviation of AIx, RTT an…

MOTOR DYSFUNCTION OF THE "NON AFFECTED" LOWER LIMB: A KINEMATIC COMPARATIVE STUDY BETWEEN HEMIPARETIC STROKE AND TOTAL KNEE PROSTHESIZED PATIENTS

2009

In patients with hemispheric stroke, abnormal motor performances are described also in the ipsilateral limbs. They may be due to a cortical reorganization in the unaffected hemisphere; moreover, also peripheral mechanisms may play a role. To explore this hypothesis, we studied motor performances in 15 patients with hemispheric stroke and in 14 patients with total knee arthroplasty, which have a reduced motility in the prosthesized leg. Using the unaffected leg, they performed five superimposed circular trajectories in a prefixed pathway on a computerized footboard, while looking at a marker on the computer screen. The average trace error was significantly different between the groups of pat…

L’immaginazione creatrice in Ibn ‘Arabi

2010

First observation of a baryonic Bc+ decay

2014

A baryonic decay of the $B_c^+$ meson, $B_c^+\to J/\psi p\overline{p}\pi^+$, is observed for the first time, with a significance of $7.3$ standard deviations, in $pp$ collision data collected with the LHCb detector and corresponding to an integrated luminosity of $3.0$ fb$^{-1}$ taken at center-of-mass energies of $7$ and $8$ $\mathrm{TeV}$. With the $B_c^+\to J/\psi \pi^+$ decay as normalization channel, the ratio of branching fractions is measured to be \begin{equation*} \frac{\mathcal{B}(B_c^+\to J/\psi p\overline{p}\pi^+)}{\mathcal{B}(B_c^+\to J/\psi \pi^+)} = 0.143^{\,+\,0.039}_{\,-\,0.034}\,(\mathrm{stat})\pm0.013\,(\mathrm{syst}). \end{equation*} The mass of the $B_c^+$ meson is dete…

How representative are referendums? Evidence from 20 years of Swiss referendums

2017

Direct democracy allows citizens to reverse decisions made by legislatures and even initiate new laws which parliaments are unwilling to pass, thereby, as its proponents argue, leading to more representative policies than would have obtained under a purely representative democracy. Yet, turnout in referendums is usually lower than in parliamentary elections and tends to be skewed towards citizens of high socio-economic status. Consequently, critics of direct democracy argue that referendum outcomes may not be representative of the preferences of the population at large. We test this assertion using a compilation of post-referendum surveys encompassing 148 national referendums held in Switze…

Correction: Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotoni…

2018

ABSTRACT Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder caused by expression of mutant myotonin-protein kinase (DMPK) transcripts containing expanded CUG repeats. Pathogenic DMPK RNA sequesters the muscleblind-like (MBNL) proteins, causing alterations in metabolism of various RNAs. Cardiac dysfunction represents the second most common cause of death in DM type 1 (DM1) patients. However, the contribution of MBNL sequestration in DM1 cardiac dysfunction is unclear. We overexpressed Muscleblind (Mbl), the Drosophila MBNL orthologue, in cardiomyocytes of DM1 model flies and observed a rescue of heart dysfunctions, which are characteristic of these model flies and resem…

The aristaless (Arx) gene: one gene for many "interneuronopathies".

2009

The ARX (Aristaless-related (X-linked) homeobox) gene is not only present in arthropods and their ancestors, but also in vertebrates including humans (ARX orthologs). The gene is composed of 5 coding exons and it is expressed predominantly in foetal and adult brain and skeletal muscle. In this review we report on our experience and review the existing literature on the genotype and phenotype heterogeneity associated with ARX abnormalities in humans ranging from severe neuronal migration defects (e.g., lissencephaly), to mild forms of X-linked mental retardation without apparent brain abnormalities. The ARX-related disorders are reviewed focusing on their clinical features and on the role of…