Search results for "Pf"

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families

2014

Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR seque…

FGFR2mutation in 46,XY sex reversal with craniosynostosis

2015

Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. DNA sequencing identified the FGFR2c heterozygous missense mutatio…

Women's Emotions Towards the Mobile Phone

2012

The purpose of this study is to investigate whether women's emotions associate differently with the mobile phone depending on the type of family in which they live. James A. Russell's circumplex model of affect which explores four main emotional dimensions, excitement, distress, depression and contentment, was applied. The article is based on the female sub-sample (N = 3,704) of nationally representative survey data collected from Italy, France, the UK, Germany and Spain (N = 7,255) in 2009. The results show that it is women living in blended families who seem to associate more distress and less feelings of contentment with the mobile phone than women living in other types of family. peerRe…

NEUROMODULAZIONE DELLA CORTECCIA PREFRONTALE:VERSO UN’APPLICAZIONE CLINICA PER I DISTURBI DEL COMPORTAMENTO ALIMENTARE.

DESIGNING AND IMPLEMENTING A BIG OPEN ONLINE COURSE BY USING A 3D VIRTUAL IMMERSIVE ENVIRONMENT – LESSONS LEARNED

2017

Open Education (OE) is a distance learning approach that was strategically chosen by the European Commission (EC) to encourage cost-effective training, upskilling and reskilling of large population groups and workforce with speed and flexibility. Institutions and businesses design and offer Open Online Courses (OOCs) to address skill gaps, organizational and societal needs. OOCs and especially Massive OOCs (MOOCs) are suffering from high rates of attrition, which is attributed to various factors such as learner isolation and lack of motivation to complete the course. Recommendations to address the retention gap in MOOCs include adopting a participation-driven approach, using game design tec…

On a numerical solution of the Maxwell equations by discrete exterior calculus

2014

Stepmothers in narratives : negotiations on relatedness

2018

This study contributes to the existing stepmother research by focusing on interaction as an aspect of stepmother identity construction. Accordingly, identity is seen as negotiated through interaction with other family members. A narrative approach applied to 58 stories written by Finnish stepmothers yielded three identity types: identity restricted by a biological mother, stepmother-centred identity, and team parenthood identity. The most dominant feature, common to all the stories, was that stepmothers perceived themselves primarily in relation to the children’s biological mothers, a stance that often led them to feel threatened. Stepmother identity construction appeared to be problematic …

Development of the quality test protocol for the DEPFET pixel detectors and top-quark mass measurement at high energy e+e- colliders

2017

El Modelo Estándar (SM) es el marco teórico más preciso jamas construido, el cual incluye todas las partículas descubiertas y las interacciones entre ellas. Es el resultado de más de 100 años de investigación en física de partículas, empezando por las observaciones de J.J. Thompson de los así llamados “corpusculos”, usando un pequeño tubo de rayos catódicos; hasta el reciente descubrimiento del bosón de Higgs, que ha necesitado de la colaboración de miles de científicos de todo el mundo, así como la mayor y más sofisticada máquina jámas construida por el ser humano (el LHC). La necesidad de entender los fenómenos de la naturaleza es imparable, así como la creación de nu…

Diversifying crop rotations with temporary grasslands: potentials for weed management and farmland biodiversity

2010

Fruchtfolgen können dazu dienen, die kontinuierliche Selektion von Unkrautarten zu verhindern, die an eine bestimmte Kultur angepasst sind. Dies könnte dem Unkrautmanagement, der Einsparung von Herbiziden, und der Biodiversität dienen. Heutige, sehr einfache Furchtfolgen könnten durch mehrjährige Futterkulturen diversifiziert werden. Die Einflüsse solcher mehrjähriger Kulturen auf Unkräuter wurden in vier Ansätzen untersucht : 1) Vegetationsaufnahmen auf 632 Feldern in Westfrankreich zeigten, dass die Unkrautzusammensetzung zwischen mehrjährigen Futterkulturen und einjährigen Kulturen stark variiert. Der Vergleich von Feldern vor, während und nach mehrjährigen Futterkulturen legte nahe, das…

La discussione ortografica tedesca a metà del Novecento: le Stuttgarter e Wiesbadener Empfehlungen.

2008

The twentieth century has been for the German orthography a period of several studies and discussions which gave scientific foundation to the 1996 spelling reform. There were plenty of public and private initiatives which, by involving an constantly increasing number of writers into the debates, tried to simplify the spelling to a more rational regulation. This essay focuses on the discussion in the late Fifties and especially on two reform projects: the Stuttgarter (1954) and the Wiesbadener Empfehlungen (1958). Despite their deeply different historical background from that of the recent successful reform, these projects are of fundamental interest for contemporary studies, since they give…