Search results for "FRAM"
showing 10 items of 2142 documents
Strategies for Active Learning to Improve Student Learning and Attitudes Towards Physics
2021
Over the last several years, active learning methods and strategies have received considerable attention from the educational community and are commonly presented in the related literature as a credible solution to the reported lack of efficacy of more “traditional” educative approaches. Research has shown that a possible factor is the strongly contextualized nature of active learning that focuses on the interdependence of situation and cognition. In this paper, we report the results of a Symposium with different contributions in the field of research on active learning. We start with a system analysis of the mental processes involved in learning physics which explains how active learning i…
Contra la patologización intensiva en términos de derechos humanos: Activismo gordo en Argentina
2020
This work addresses the way in which Argentine Fat Activism has developed, in recent years, the demand for depathologization of fatness, taking elements from critical discourses on the health of fat people to frame them in a perspective typical of the Human Rights. First, the contemporary fat body is described in terms of stigma and discrimination, especially in the health field. Then, they refer to a series of critical positions on the pathologization and medicalization of fatness from the biomedical perspective, Fat Studies and Fat Activism. Lastly, a series of interventions that the Argentine activist collective Taller Hacer la Vista Gorda produced between 2017 and 2020 were considered, …
Retinal optical coherence tomography angiography as a biomarker of acute kidney injury after acute coronary syndrome
2018
Background Contrast-induced nephropathy (CIN) after percutaneous coronary intervention (PCI) for acute coronary syndrome (ACS) is frequent and associated with long-term renal impairment and mortality. Retinal vessel density (RVD) measured by OCT-Angiography could reflect the global cardiovascular burden of ACS patients and thus provide a fast and non-invasive assessment of the systemic microcirculation, that may be involved in CIN occurrence. Methods Between October 2016 and March 2017, 452 ACS patients were admitted in our coronary care unit. Retinal OCT-A was performed within two days after PCI. Patients were divided in two groups, according to Acute kidney injury (AKI) occurrence (KDIGO …
Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxi…
2006
Summary Objective Congenital primary hypothyroidism occurs in 1 of 4000 births. Whereas the majority of the cases are due to developmental defects of the thyroid gland, 20% carry a defect in thyroid hormonogenesis. We report a Turkish boy who had goitrous hypothyroidism due to a mutation in the thyroid peroxidase (TPO) gene. Design The TPO gene was sequenced directly from genomic DNA and cDNA which was transcribed from three RNA samples harvested from different parts of the patient's excised thyroid gland. Patient The boy was thyroidectomized because of continuing growth of his thyroid gland and development of multiple nodes suspected of malignancy by ultrasound examination. Histopatholo…
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene
2013
International audience; Fanconi anaemia (FA) is characterized by progressive bone marrow failure, congenital anomalies, and predisposition to malignancy. In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. Here, we describe the clinical and molecular features of a remarkable family presenting with multiple primary colorectal cancers (CRCs) without detectable mutations in genes involved in the Mendelian predisposition to CRCs. We unexpectedly identified, despite the absence of clinical cardinal features of FA, a biallelic mutation of the FANCD1/BRCA2 corresponding to a frameshift alteration (c.1845_1846del…
Prediction of incident type 2 diabetes mellitus based on a twenty-year follow-up of the Ventimiglia heart study.
2011
A novel algorithm to predict incident type 2 diabetes mellitus (iT2DM) is presented considering data from a 20-year prospective study in a Southern Italy population. Eight hundred and fifty-eight out of 1,351 subjects (24-85 years range of age) were selected. Incident type 2 diabetes was diagnosed in 103 patients in a 20-year follow-up. The Finnish Diabetes Risk Score (FINDRISC) and the Framingham Offspring Study simple clinical model (FOS) have been used as reference algorithms. Two custom algorithms have been created using Cox parametric hazard models followed by PROBIT analyses: the first one (VHSRISK) includes all the study subjects and the second one (VHS95RISK) evaluates separately su…
Capacity assessment for provision of quality sexual reproductive health and HIV-integrated services in Karamoja, Uganda
2020
Introduction: Sexual and reproductive health (SRH) and Human Immunodeficiency Virus (HIV) are crucial global health issues. Uganda continues to sustain a huge burden of HIV and AIDS.
 Methods: A cross-sectional health facility-based assessment was performed in November and December 2016 in Karamoja Region, northern Uganda. All the 126 health facilities (HFs) in Karamoja, including 5 hospitals and 121 Health Centers (HCs), covering 51 sub-counties of the 7 districts were assessed. We assessed the capacity of a) leadership and governance, b) human resource, c) service delivery, d) SRH and HIV service integration and e) users satisfaction and perceptions.
 Results: 64% of the establi…
Cultural and communicational traits of oral health care: results of a Finnish case study.
2006
This paper aims to describe the cultural and communicational traits of Finnish oral health care. First, employees' views and experiences regarding their organization and their position within it are investigated and, second, relations between different individual and organizational factors are analyzed. Finally, a conceptual framework of organizational coherence is constructed.The paper shows that data collection (n = 58, 84 percent response rate) was carried out in 2002 at a Finnish dental clinic by using a semi-structured questionnaire. The data were analyzed statistically by using, among other things, non-parametric tests and a structural equation model (LISREL) and qualitatively by usin…
Homozygous variants in the gene SCAPER cause syndromic intellectual disability
2019
The S-Phase Cyclin A Associated Protein In The ER (SCAPER) gene is a ubiquitously expressed gene with unknown function in the brain. Recently, biallelic SCAPER variants were described in four patients from three families with retinitis pigmentosa (RP) and intellectual disability (ID). Here, we expand the spectrum of pathogenic variants in SCAPER and report on 10 further patients from four families with ID, RP, and additional dysmorphic features carrying homozygous variants in SCAPER. The variants found comprise frameshift, nonsense, and missense variants as well as an intragenic homozygous deletion, which spans SCAPER exons 15 and 16 and introduces a frameshift and a premature stop codon. A…
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
2018
Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …