Search results for "FAMILY"
showing 10 items of 3539 documents
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
2012
Abstract Objectives Mutation analysis of the alpha-galactosidase A (GLA) gene is a valuable tool for the diagnosis of affected families. In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD). Design and methods We carried out high resolution melting analysis (HRM) and DNA sequencing of all the exons of the GLA gene. We also assayed the alpha-galactosidase A activity in patients' blood. Results In some members of one family, we identified a new mutation in the GLA gene, c.614delC. This is a deletion of a single nucleotide, a cytosine, in exon 4 of the gene which causes a frameshift mutation. Conclusions Patients with the c.614delC mu…
Heredity and obesity-associated hypertension: impact of hormonal characteristics and left ventricular mass.
1995
Objectives : To investigate the influence of heredity on obesity-associated hypertension, we evaluated casual and 24-h blood pressure, left ventricular mass and some metabolic and hormonal measurements in normotensive obese subjects. Design : Healthy, normotensive obese subjects (n = 81) with positive or negative family history of hypertension were studied. Both groups were also subdivided according to a positive or a negative family history of obesity. Accordingly, 45 obese subjects had a positive family history of hypertension, 25 of these having a positive (subgroup A) and 20 having a negative family history of obesity (subgroup B). The other 36 obese subjects had a negative family histo…
When intentions turn into action: pathways to successful firm performance
2021
Entrepreneurship brings wealth to nations and contributes to their economic growth. People can take many paths to become entrepreneurs. Some join the family business, whilst others are born entrepreneurs, letting their innate intuition lead them into firm creation. For many, though, being able to learn and acquire the right skills is critical for a successful career as an entrepreneur. Like other human capital factors, entrepreneurial skills can be acquired. In today’s fast-changing society, it is of utmost importance for entrepreneurs not only to gain these skills but also to be surrounded by a supportive environment that will (1) guide them in the creation of their business idea and (2) h…
The Mafia Boss Yesterday and Today: Psychological Characteristics and Research Data
2015
This article describes Cosa Nostra bosses’ psychological characteristics starting from research data collected over almost twenty years (1994–2013). Through the use of fragments of interviews to justice collaborators and their wives, children, and sisters-in-law, we analyze the boss’ role and relational context. This article also reports the results of a recent research on the relationship between boss and white-collar workers, carried out through the analysis of environmental tapping recorded at a famous Sicilian Mafia boss’ house: Giuseppe Guttadauro. This research highlights the psychological diversity the relationship between boss and white-collar worker is based on. The analysis of env…
Improving Oral–Systemic Healthcare through the Interoperability of Electronic Medical and Dental Records: An Exploratory Study
2019
Objectives Electronic health records (EHRs) are rarely shared among medical and dental providers. The purpose of this study was to assess current information sharing and the value of improved electronic information sharing among physicians and dentists in Germany and the United States. Materials and Methods A survey was validated and distributed electronically to physicians and dentists at four academic medical centers. Respondents were asked anonymously about EHR use and the medical and dental information most valuable to their practice. Results There were 118 responses, a response rate of 23.2%. The majority (63.9%) of respondents were dentists and the remainder were physicians. Most res…
Association between toenail scandium levels and risk of acute myocardial infarction in European men: the EURAMIC and Heavy Metals Study
2002
The association between scandium status and risk of acute myocardial infarction (MI) was examined in a multicentre case control study in 10 centres from Europe and Israel. Scandium in toenails was assessed in 684 cases and 724 controls less than 70 years of age. Mean concentrations of toenail scandium were 6.74 micro/kg in cases and 7.75 microg/kg in controls. Scandium among controls, adjusted for age and centre was positively associated with concentrations of lycopene and oleic acid in adipose tissue (P = 0.002 for both nutrients). Pearson correlations adjusted for age and centre were significant (P0.05) between scandium and lycopene (r = 0.08), zinc (r = 0.08), mercury (r = 0.18) and olei…
De novo design of protein kinase inhibitors by in silico identification of hinge region-binding fragments.
2013
Protein kinases constitute an attractive family of enzyme targets with high relevance to cell and disease biology. Small molecule inhibitors are powerful tools to dissect and elucidate the function of kinases in chemical biology research and to serve as potential starting points for drug discovery. However, the discovery and development of novel inhibitors remains challenging. Here, we describe a structure-based de novo design approach that generates novel, hinge-binding fragments that are synthetically feasible and can be elaborated to small molecule libraries. Starting from commercially available compounds, core fragments were extracted, filtered for pharmacophoric properties compatible w…
El acogimiento de menores con necesidades especiales y su relación con el perfil de las familias acogedoras
2013
El acogimiento familiar en cualquiera de sus modalidades, es un recurso que pretende proteger a la infancia en situación de riesgo y/o desamparo y posibilitar un desarrollo integral y comunitario a la vez que reparador, todo ello dentro de un entorno de familia (familia extensa o familia ajena). El objetivo del presente estudio, ha sido encontrar relaciones entre el perfil de la familia acogedora en los acogimientos en familia ajena y los problemas del menor en el momento de inicio del acogimiento. Se analizaron si las características familiares, incluyendo el tipo de familia, sus motivaciones o la situación laboral, predisponen o facilitan a acoger menores con problemas físicos y/o psicoso…
Klinische und ökonomische Evaluation der Inanspruchnahme zahnärztlicher Leistungen im Ausland
2003
Purpose During the past decade German patients developed an increasing tendency to dental health tourism in countries outside the European Union. The present investigation aimed at evaluating both clinical and economic outcome of dental care in these countries with regard to German directive standards. Methods Based on physical examinations performed by the Medizinische Dienst der Krankenversicherung Rheinland-Pfalz in the context of reimbursement or regress requests after dental care in countries outside the European Union, an individual treatment concept was designed and its direct costs from the patient's perspective were estimated according to German standards. Furthermore, the clinical…
The complete genome sequence of Lamium mild mosaic virus, a member of the genus Fabavirus
2013
Springer-Verlag Wien 2013 Abstract Lamium mild mosaic virus (LMMV) is the only one of the five members of the genus Fabavirus for which there are no nucleotide sequence data. In this study, the complete genome sequence of LMMV was determined and compared with the available complete genome sequences of other members of the genus Fabavirus. The genome was the largest of the genus but maintained the typical orga- nization, with RNA 1 of 6080 nucleotides (nt), RNA 2 of 4065 nt, and an unusually long 3 0 untranslated region in RNA 2 of 603 nt. Phylogenetic analysis of the amino acid sequences of the protease-polymerase (Pro-Pol) region and the two coat proteins confirmed that LMMV belongs to a d…