Search results for "comparative"

Unsolved questions and preferred solution about living will

2018

Abstract Background Ethical problems about end-of-life medicine include a variety of issues approached in different ways by physicians and, more recently, special emphasis to this kind of ethical issues and possible answers has done by Italian National Ethical Committee in the issue named “Deep and continuous palliative sedation in the imminence of Death” (January, 2016). The debate is very critical in Intensive Care Units and Cancer Wards, where health care professionals face-off with terminally-ill patients is an outright routine; the Authors investigated their medical knowledge and ethical perception about patient critical and terminal condition to discuss the most relevant conclusions. …

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene

2022

Abstract Background Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible…

Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis

2011

Subtelomeric terminal 6p deletion has been recognized as a clinically identifiable syndrome including facial dysmorphism, malformation of the anterior eye chamber, hearing loss, heart defect and developmental delay. Genotype –phenotype correlations of previously published patients have been strongly suggested anterior eye segment anomalies as one of major malformation of the syndrome if the critical 6p25 region containing the FOXC 1 gene. In addition it has been hypothesized the presence in this region of one or more genes involved in hearing loss. We report on a case of terminal 6p deletion in a 47, XYY karyotype. Further characterization of the deletion with array comparative genome hybri…

Cardiac magnetic resonance versus echocardiography for the assessment of cardiac volumes and function in thalassemia major patients

2012

The comparative biology of the closely related Senecio nebrodensis and S. viscosus, a narrow endemic and a widespread ruderal

1993

The closely related Senecio nebrodensis, a perennial herb from four mountain ranges in Spain, and S. viscosus, an annual herb widespread in Europe, are being compared by the study of herbarium material and comparative cultivation. In cultivation, S. nebrodensis behaved as an annual, completing its life cycle within a shorter period of time than S. viscosus. The formation of basal leaf rosettes is much more pronounced in S. nebrodensis than in S.viscosus. The main difference between the two species, however, is their breeding system. While S. nebrodensis is self-incompatible, S. viscosus is self-compatible. Differences in reproductive morphology (mainly size and number of ray florets) are su…

Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein…

2013

Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis. Mutations in the gene encoding the cAMP response element-binding protein (CREB, also known as CREBBP or CBP) on chromosome 16p13.3 have been identified. In addition, some patients with low intelligence quotients and autistic features bear large deletions. Based on these observations, we used multiplex ligation-dependent probe amplification to search for large deletions affecting the CREBBP gene in a Rubinstein-Taybi syndrome patient. We identified a novel heterozygote dele…

Comparative analysis of major travel and tourism indicators: Estonia, Latvia and Lithuania, 2010

2011

Straipsnio tikslas – lyginant svarbiausius statistinius rodiklius rasti Baltijos šalių turizmo rinkos bendrumus ir ypatumus. Tuo tikslu buvo daroma literatūros šaltinių apžvalga bei analizė, taikoma indukcija bei dedukcija, o taip pat tokie statistiniai metodai, kaip grupavimas, agregavimas bei lyginimas. Tyrimas rodo, kad Estijos kelionių bei turizmo industrijos dalis tiek bendrajame vidaus produkte, tiek ir darbuotojų skaičiumi yra didžiausia ir viršija Europos sąjungos atitinkamų rodiklių vidurkius. Estija tarp Baltijos šalių užima lyderio pozicijas tiek su nakvyne atvykstančių užsienio lankytojų skaičiumi, tiek jų lankytojų šalyje praleistų naktų skaičiumi. Lietuvoje nakvynės paslaugas …

The dimensions of social dynamics in comparative studies on higher education

2013

This article discusses social dynamics of higher education which is one of the most crucial but neglected perspectives in comparative studies of higher education. We pay attention to the importance of time, space and contexts—both geographical and socio-cultural ones—to reveal how they influence on different social dynamics in various systems of higher education. The article focuses on the national higher education system level. Theoretically we approach higher education systems from a relational perspective paying attention to dynamics created by changing relationships between different actors in cultural, geographical and historical contexts. peerReviewed

Un ataque a la educación inclusiva en la Enseñanza Secundaria. Limitaciones de la formación inicial del profesorado en España

2015

Inclusive education is hard to implement in secondary schools. Probably, one of the determining factors lies in teachers' initial training that determines their attitude, identity and professional practice. This research analyses the initial teacher education programmes for Secondary Education, Higher Secondary Education, called bachillerato in Spain, and Vocational and Artistic training in the five best valued Spanish universities in the education field, according to the ranking I-UGR, after the European convergence process in the European Higher Education Area. The study analyses the national regulations that govern this training. A quantitative study was conducted to examine the number o…

Framework and operationalisation challenges for quantitative comparative research in higher education

2020

Paid open access