Search results for " Counseling"
showing 10 items of 146 documents
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
2012
Objectives Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with manifestations mainly involving the skeletal, ocular, and cardiovascular systems. The phenotypic variability observed in MFS makes genetic counselling difficult. Prenatal diagnosis (PND) and preimplantation genetic diagnosis are technically feasible when a causal mutation is identified, but both raise many ethical questions in this condition. Little is known about opinions and practices in such reproductive issues in MFS. The goal of this study was to report on patients' points of view and geneticists' standard practices. Methods Two different questionnaires were produced. Results Fifty geneticists fil…
Revista española de orientación y psicopedagogía
2014
RESUMENSon bien conocidos los condicionantes vocacionales que influyen en los estudiantes universitarios en función de características como el sexo, nivel socioeconómico o grupo vocacional al que se adscriben. Sin embargo, poco se conoce de las características vocacionales de estos estudiantes cuando están afectados por una discapacidad. La aproximación cualitativa, a través de entrevistas semiestructuradas, es la vía que permite conocer con detenimiento las necesidades y características de estos estudiantes para establecer un asesoramiento de calidad. Esta metodología nos muestra que dicho asesoramiento debe centrarse, básicamente, en tres campos: el socio-personal, el de autonomía e indep…
Diverse histories, common ground and a shared future:the education of career guidance and counselling professionals in the Nordic countries
2019
The development of education programmes in career guidance and counseling (CGC) has followed different paths among the various Nordic countries. Ten CGC programmes in Denmark, Finland, Greenland, Iceland, Norway and Sweden were evaluated against the NICE curricular model. The results show that all NICE core competences are represented in the curricula. However, there is greater focus in some programmes on developing competences for individual career guidance, than on developing competences for working at organisational and societal levels. Implications for the cooperation and professionalisation of CGC within the Nordic countries are discussed as well as limitations of the NICE model. Keywo…
Career practitioners' conceptions of competency for social media in career services
2014
This article reports findings from a phenomenographic investigation into career practitioners' understanding of competency for social media in career services. Sixteen Danish and Finnish practitioners with experience using social media in career services were interviewed in focus groups. Competency for social media in career services was conceived as (i) an ability to use social media for delivering information, (ii) an ability to use social media for delivering career services, (iii) an ability to utilise social media for collaborative career exploration and (iv) an ability to utilise social media for co-careering. The findings can be used to develop pre-service and in-service training of …
Current Guidance during the orientation in career counseling
2010
Abstract Counseling is a complex process encompassing a large wide range of interventions that requires specialized training. Success counseling is provided by the active involvement and responsibility of both parties (counselor and counseled people) in making a genuine alliance based on mutual respect and trust. The concept of career guidance is covered the widest range of activities, take information and evaluation, counseling and education to career and becomes the “umbrella concept” for activities in this area.
Protein aggregate myopathies.
2006
Protein aggregate myopathies (PAMs) based on the morphologic phenomenon of aggregation of proteins within muscle fibers may occur in children (selenoproteinopathies, actinopathies, and myosinopathies) or adults (certain myofibrillar myopathies and myosinopathies). They may be mutation related, which includes virtually all childhood forms but certain other forms as well, or sporadic, which are largely seen in adults. Their classification as myofibrillar or desmin-related myopathies, actinopathies, or myosinopathies is based on the identification of respective mutant proteins, most of them components of the sarcomeres. Recognition of PAM requires muscle biopsy and an extensive immunohistochem…
Mobility decline in old age.
2012
Mobility is important for community independence. With increasing age, underlying pathologies, genetic vulnerabilities, physiological and sensory impairments, and environmental barriers increase the risk for mobility decline. Understanding how mobility declines is paramount to finding ways to promote mobility in old age. peerReviewed
Morphological aspects of the neuronal ceroid lipofuscinoses
2000
Morphological aspects of the neuronal ceroid lipofuscinoses (NCL) encompass two main features: loss of nerve cells and accumulation of autofluorescent lipopigments within cellular compartments. The former requires histology and morphometry for assessment, while the latter necessitates fluorescence microscopy, electron microscopy, and immunohistochemistry. Accumulation of lipopigments is widespread throughout the central nervous system and extracerebrally. The latter feature enables diagnosis of NCL and its clinical subtype. Loss of neurons is most pronounced in cerebral and cerebellar cortices, in early childhood forms. In subcortical grey matter and in later-onset forms, juvenile and adult…
WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS
2018
Advances in DNA sequencing technologies through Next Generation Sequencing (NGS) approaches have enabled genome-wide discovery of chromosomal copy-number variants and single-nucleotide changes. NGS technologies are rapidly expanding our ability to identify and better define disease-causing mutations and genotype-phenotype correlation. Pediatric patients may particularly benefit from the introduction of these new technologies. Pediatricians must keep up with all these new skills, both in their residency programs as well as in their continuing medical education programs.
Abstract 5504: Second neoplasms after childhood cancer and gene expression differences in primary fibroblasts
2012
Abstract Treatment of the primary neoplasm with radiotherapy or chemotherapy is an established risk factor for second neoplasms (SNs) after childhood cancer. As only a small percentage of the treated children suffer from SN, other shared risk factors must be involved. A predisposition for the occurrence of a SN might be a pre-existing somatic genetic defect associated with DNA repair. We investigated the association between gene expression involved in DNA-repair and the development of SNs after childhood cancer. Designed as a feasibility study this project addressed the possibility of obtaining samples for genetic analyses from former patients through the German Childhood Cancer Registry. W…