Search results for "counsel"
showing 10 items of 1047 documents
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.
Enriched Environments for Rodents and their Interaction with Nicotine Administration
2012
An active lifestyle throughout the life cycle seems to delay cognitive aging and dementia and has also been evaluated as an intervention against addiction to cocaine and other drugs of abuse. In epidemiological studies with humans, it has proved difficult to separate the cognitive, social and physical components from other variables that influence lifestyle. Studies in animal models are useful for evaluating the impact of each of these factors and for uncovering the underlying mechanisms of the benefits of complex environments. Preclinical studies have employed the Environmental Enrichment paradigm (EE) which has been proposed as a preclinical model of positive life experiences in humans. E…
Adolescents' future education-related personal goals, concerns, and internal motivation during the “Towards Working Life” group intervention
2010
For adolescents, the transition from comprehensive school to post-comprehensive education is one of the most important in this life phase. Future education-related personal goals, concerns, and related internal motivation are assumed to play key roles in a successful transition. The “Towards Working Life” group method was developed, among other objectives, to enhance internal motivation towards education-related goals, and to increase the number of personal goals and concerns related to future education. A total of 1034 ninth graders from comprehensive school were randomized into 25 intervention groups and control groups. A week-long group intervention, which took place at school, showed th…
Timeout procedure in paediatric surgery: effective tool or lip service? A randomised prospective observational study.
2021
BackgroundFor over a decade, the preoperative timeout procedure has been implemented in most paediatric surgery units. However, the impact of this intervention has not been systematically studied. This study evaluates whether purposefully introduced errors during the timeout routine are detected and reported by the operating team members.MethodsAfter ethics board approval and informed consent, deliberate errors were randomly and clandestinely introduced into the timeout routine for elective surgical procedures by a paediatric surgery attending. Errors were randomly selected among wrong name, site, side, allergy, intervention, birthdate and gender items. The main outcome measure was how freq…
L26 The Role Of Occupational Therapy In Huntington's Disease
2014
Background We discuss the role of the occupational therapist working with individuals and families affected by Huntington’s disease. Objectives A research by purposes was carried out through the design and implementation of an intervention program aimed at preventing and alleviating the deterioration caused by the disease through training in daily living activities and cognitive stimulation, and coaching the families through monthly monitoring and annual meetings. Method A literature review using structured databases was conducted to identify studies focusing on Occupational Therapy in Huntington’s disease. An intervention program based on the different types, symptoms and stages of the dis…
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…
Cancer: New Needs, New Models. Is It Time for a Community Oncologist? Another Brick in the Wall
2021
Simple Summary Community care activity in the oncology field does not exist. This unmet need contrasts with the increasing number of patients with a previous diagnosis of cancer. Abstract Over the last few decades, thanks to early detection, effective drugs, and personalized treatments, the natural history of cancer has radically changed. Thanks to these advances, we have observed how survival of cancer patients has increased, becoming an ever more important goal in cancer care. Effective clinical governance of survivorship care is essential to ensure a successful transition between active and post-treatment life, identifying optimization of healthcare outcomes and quality of life for patie…
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.
2013
International audience; Multiple endocrine neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Although genotype-phenotype studies have so far failed to identify any statistical correlations, some families harbor recurrent tumor patterns. The function of MENIN is unclear, but has been described through the discovery of its interacting partners. Mutations in the interacting domains of MENIN functional partners have been shown to directly alter its regulation abilities. We report on a cohort of MEN1 patients from the Groupe d'étude des Tumeurs Endocrines. Patients with a…