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showing 10 items of 3036 documents
Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
1998
SummaryNail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.
Sense of coherence and health among home-dwelling older people.
2010
Sense of coherence (SOC) is important for maintaining health. The aim of this study was to investigate if the SOC experience among home-dwelling physically active older people differs from that of hospital patients with the same age and sex. Data were collected with questionnaires and structured interviews containing Antonovsky’s SOC scale in an age- and sex-matched study group (n=160). Non-parametric statistical analyses were performed. No differences were found in SOC between home-dwelling individuals and patients. Ninety-five percent of the home-dwelling individuals perceived themselves as being in good health and 42.5% among the patients (p<0.001). SOC and disease were predictors fo…
The iron-regulatory hormone hepcidin: A possible therapeutic target?
2015
The maintenance of stable extracellular and intracellular iron concentrations requires the coordinated regulation of iron transport into plasma. Iron is a fundamental cofactor for several enzymes involved in oxidation-reduction reactions. The redox ability of iron can lead to the production of oxygen free radicals, which can damage various cellular components. Therefore, the appropriate regulation of systemic iron homeostasis is decisive in vital processes. Hepcidin has emerged as the central regulatory molecule of systemic iron homeostasis. It is synthesized in hepatocytes and in other cells and released into the circulation. It inhibits the release of iron from enterocytes of the duodenum…
Investigation of insulin resistance in narcoleptic patients: dependent or independent of body mass index?
2011
Alice Engel1,2, Jana Helfrich1, Nina Manderscheid1, Petra B Musholt3, Thomas Forst3, Andreas Pf&uuml;tzner3, Norbert Dahmen1,21Department of Psychiatry, University of Mainz, Germany; 2Fachklinik Katzenelnbogen, Katzenelnbogen, Germany; 3IKFE, Institute for Clinical Research and Development, Mainz, GermanyBackground: Narcolepsy is a severe sleep-wake cycle disorder resulting in most cases from a lack of orexin, the energy balance-regulating hormone. Narcoleptic patients have been reported to suffer from an excess morbidity of Type 2 diabetes, even after correction for their often elevated body mass index.Methods: To explore whether narcolepsy is specifically associated with a propensity …
Effects of a computerized decision support system on care planning for pressure ulcers and malnutrition in nursing homes: an intervention study.
2013
Author's accepted version (post-print). Background: Nursing documentation is essential for facilitating the flow of information to guarantee continuity, quality and safety in care. High-quality nursing documentation is frequently lacking; the implementation of computerized decision support systems is expected to improve clinical practice and nursing documentation. Aim: The present study aimed at investigate the effects of a computerized decision support system and an educational program as intervention strategies for improved nursing documentation practice on pressure ulcers and malnutrition in nursing homes. Design, setting and participants: An intervention study with two intervention grou…
La protection juridictionnelle de l'inviolabilité du domicile
2013
Since the end of the 20th century, the inviolability of home is acknowledged as a fundamentalfreedom established by the Constitutional Council of French Republic and protected by the European convention of protection of human rights and fundamental freedoms. This value is explained by its real object of protection : the resident of the home. This freedom forbids anyone's intrusions at the domicile against the resident´s will, particularly arbitrary intrusions of state servants. Its effectiveness is mainly assured by the French judicial judge and constitutional judge as well as the European judge. This lasts lay the foundations of a satisfying protection adopting a wide conception of the hom…
On the characterization of some [bmim][X]/co-solvent binary mixtures: a multidisciplinary approach by using kinetic, spectrophotometric and conductom…
2008
Abstract In order to study the intrinsic characteristics and to evaluate the structural variations determined by the addition of a co-solvent to 1-butyl-3-methylimidazolium tetrafluoroborate ([bmim][BF 4 ]) we examined the behaviour of some probes in [bmim][BF 4 ]/co-solvent binary mixtures. The rate constants of the piperidino-catalyzed rearrangement of the Z -phenylhydrazone of the 3-benzoyl-5-phenyl-1,2,4-oxadiazole into the relevant 4-benzoylamino-2,5-diphenyl-1,2,3-triazole as well as the spectrometric properties of pyrene and Nile Red were evaluated. With the same purpose also 1 H NMR and conductivity measurements were carried out. By comparison the behaviour of 1-butyl-3-methylimidaz…
Testing the Home Market Effects in a Multi-country World: The Theory
2004
We extend the two-country model by Krugman (1980) to a multi-country set-up and show that the `home-market effect' highlighted with two countries does not readily extend to such a more general setting. In particular, we prove that the most important result, namely the disproportionate causation from demand to supply, generalizes only under the fairly implausible assumption of pairwise symmetric trade costs between all countries. We argue, therefore, that the implications of product differentiation for the structure of world trade are better characterized in terms of spatial (`accessibility') and non-spatial (`attraction') effects, and we provide a theory-based specification that suggests ho…
Estudio de los taxa afines a Limonium vulgare Miller de marismas de Portugal Continental
2012
Master de Biodiversidad: Conservacion y evolucion - Universitat de Valencia. Facultat de Ciencies Biologiques / Instituto Superior de Agronomia The genus Limonium Miller is a highly complex taxonomic group and a large number of micro-species has been described as a result of their reproductive strategies, sexual and/or apomixis. In Portugal, there are few and old studies on Limonium species, although the country has exceptional conditions for their presence, given that they inhabit rocky cliffs, beaches and salt-marshes. This study was intended to clarify the identity of ambiguous specimens related to taxon Limonium vulgare Miller, typical in the salt-marshes of Continental Portugal. We per…
Dzīves prasmju apguves process pusceļa mājā no klienta un sociālā darbinieka skatu punkta
2018
Maģistra darba nosaukums ir „Dzīves prasmju apguves process pusceļa mājā no klienta un sociālā darbinieka skatupunkta”. Cilvēki ar garīga rakstura traucējumiem dzīvo noslēgtā vidē – sociālos aprūpes centros. Dzīvojot institūcijā, netiek veicinātas jaunu zināšanu un prasmju apguves iespējas atbilstoši cilvēka spējām un interesēm, kā rezultātā tiek zaudētas jau esošās prasmes un veidojas institucionālā atkarība. Darba mērķis teorētiski un praktiski izpētīt VSAC „Rūja” pusceļa mājas klientu ar garīga rakstura traucējumiem dzīves prasmju apguves procesu no klienta un sociālā darbinieka skatupunkta. Pētījuma galvenie uzdevumi iepazīt pusceļa mājas pakalpojumu, struktūru, personālu, raksturot soc…