Search results for "Rett"
showing 10 items of 915 documents
The quality of life in girls with Rett syndrome
2016
Nowadays, quality of life is receiving an increasing attention in all scientific areas. Rett syndrome (RTT) is a rare neurological development, affecting mainly females. The congenital disease affects the central nervous system, and is one of the most common causes of severe intellectual disability. The aim of our study is to evaluate the effect of RTT on the quality of life of people who are affected. Both parents of 18 subjects, all female, diagnosed with RTT, took part in the research. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale. This scale consists of 30 questions that investigate the effect of illness on children, parents and families…
Proton Pump Inhibitors Display Antitumor Effects in Barrett's Adenocarcinoma Cells
2016
Recent evidence has reported that proton pump inhibitors (PPIs) can exert antineoplastic effects through the disruption of pH homeostasis by inhibiting vacuolar ATPase (H+-VATPase), a proton pump overexpressed in several tumor cells, but this aspect has not been deeply investigated in EAC yet. In the present study, the expression of H+-VATPase was assessed through the metaplasia-dysplasia-adenocarcinoma sequence in Barrett’s esophagus (BE) and the antineoplastic effects of PPIs and cellular mechanisms involved were evaluated in vitro. H+-VATPase expression was assessed by immunohistochemistry in paraffined-embedded samples or by immunofluorescence in cultured BE and EAC cell lines. Cells we…
Cigarette Smoke Increases Endothelial CXCL16-Leukocyte CXCR6 Adhesion In Vitro and In Vivo. Potential Consequences in Chronic Obstructive Pulmonary D…
2017
Cardiovascular disease (CVD) is a major comorbidity in chronic obstructive pulmonary disease (COPD). Although the mechanism of its development remains largely unknown, it appears to be associated with cigarette consumption and reduced lung function. Therefore, the aim of this study was to investigate the potential link between water-soluble cigarette smoke extract (CSE)-induced endothelial dysfunction and the function of CXCL16/CXCR6 axis on the initial attachment of leukocytes, in addition to its possible impact on COPD-associated systemic inflammation. To do this, we employed several experimental approaches, including RNA silencing and flow cytometry analysis, the dynamic flow chamber tec…
Noninvasive ventilation for acute hypoxemic respiratory failure/ARDS: The show must go on
2018
Use of a Perioperative Web-Based Exercise Program for a Patient with Barrett’s Carcinoma Scheduled for Esophagectomy
2019
A poor preoperative functional capacity increases the perioperative risk. Therefore, a web-based exercise approach has been initiated for a careful supervision and individual support of patients during their perioperative cancer therapy. Here, we present the data of a 57-year-old patient, scheduled for esophagectomy. Beside a five-week neoadjuvant chemoradiotherapy (CRT), the patient performed 10 weeks of a web-based prehabilitation exercise training (preconditioning) and continued the exercise program for 14 weeks after surgery. The patient performed 42 of 44 recommended training sessions in the preconditioning period in his home environment. This corresponds to a mean of 131 (±38) min of …
Different approaches to marriage downgrading : from an anti-elusive measure to an antidiscriminatory claim
2021
The essay focuses on the different mechanisms of marriage downgrading. Given the principle of ?cross-border continuity? of statuses, limits to this continuity are sometimes admitted and they are placed through downgrading mechanisms. That can occour in the case of same-sex marriages transcription in a Member State which does not allow such marriages, but which does allow samesex registered partnerships. Downgrading mechanism has an anti-elusive function, but it is not without problems in terms of discrimination on the grounds of sexual orientation. A different approach is taken in the case of an opposite-sex couple requesting the downgrading of their marriage, celebrated before the Member S…
Estado bucodental de la población de pacientes con síndrome de Rett de la Comunidad Valenciana y Región de Murcia
2013
INTRODUCCIÓN El síndrome de Rett (SR) es un trastorno del neurodesarrollo ligado al cromosoma X que ocurre casi exclusivamente en mujeres, caracterizado por la regresión en el desarrollo psicomotor con manifestaciones autistas, desaceleración del crecimiento cefálico, convulsiones y movimientos repetitivos estereotipados de las manos. Se engloba dentro del grupo de las enfermedades raras estimándose su prevalencia en 4,15 por cada 100.000 habitantes. En la mayoría de los casos su causa deriva de una mutación en el gen MECP2, localizado en el cromosoma X, casi siempre letal en varones. El diagnóstico se basa en el cumplimiento de unos criterios de diagnóstico clínico, ya que las mutaciones e…
Shared Mental Models: National Representative Coaches’ Thinking on Importance, Characteristics, and Development
2022
The aims of the study were to explore how national representative handball coaches reflect on the cognitive properties of the team and how these attributes are developed through team practice. A theoretical (shared mental models) thematic analysis was conducted, and five coaches with extensive experience from the national team and elite clubs participated. The data were analyzed with regard to three overarching topics: importance, characteristics, and development of shared mental models. The interviews revealed that measures intended to influence a shared mental model permeate team practice and underpin the assumption of opponent-specific shared mental models. Alignment between briefings an…
A COLAB model Of workplace transformation in the criminal justice context
2021
AbstractThis chapter presents the COLAB model for promoting organisational learning and innovation with potential application in criminal justice-related organisations. We describe this model as a toolkit that built on the Change Laboratory model of workplace transformation but one augmented with the beneficial components of Activity Clinics, Boundary Crossing Workshops and Codesign methods and developed within the criminal justice context. Limitations and future directions for the model are discussed.