Alternativa metodológica para fortalecer el proceso enseñanza aprendizaje de Morfofisiología I en la carrera Enfermería / Methodological alternative to strengthen the teaching-learning process of Morphology and Phisiology I in the Nursing major

Introducción: la insuficiente apropiación de los contenidos de la asignatura Morfofisiología I por los estudiantes, es uno de los problemas esenciales en la carrera de Enfermería. Objetivo: diseñar una alternativa metodológica que fortalezca el proceso enseñanza aprendizaje (PEA) de la asignatura Morfofisiología I en la carrera de Enfermería. Método: investigación-acción en la Filial Universitaria Municipal de Ciencias Médicas Los Palacios; universo y muestra: total de estudiantes de 2do año de enfermería durante los cursos 2008-2009 y 2009-2010 (46) y durante los cursos 2010-2011 y 2011-2012 (23); se utilizaron métodos observacionales, entrevistas, enfoque de sistema y modelación. Resultados: Las clases observadas de Bien ascendieron de 16,6% a 83,3 % y las observadas de Mal descendieron de 61,1% a 5,6%. La promoción mejoró en calidad y se elevó de 28,2% a 95,6%, se logro la mayor motivación y participación activa y protagónica de los estudiantes, así como seguridad y dominio en el tratamiento de los contenidos. Conclusiones: La alternativa metodológica permitió a los docentes potenciar las dimensiones cognitivas y motivaciones en los estudiantes por la asignatura Morfofisiología I y demostró un salto cualitativo y cuantitativo en los resultados obtenidos.

Introduction: the students´ insufficient aprehension of the course contents in Morphology and Phisiology I is one of the main problems in the Nursing major. Objective: to design a methodological alternative to strengthen the teaching-learning process in the course subject in the Nursing major. Material and method: research-action in Los Palacios Municipal University Affiliate of Medical Sciences; target group and sample: the sheer number of Nursing second year students during the academic years 2008-2009 and 2009-2010 (46) and 2010-2011 and 2011-2012 (23); observational methods were used, as long as interviews, system approach and modelling. Results: the lessons evaluated with Good increased from 16.6% to 83.3% and those evaluated with Wrong decreased from 61.1% to 5.6%. Promotion improved in quality and increased from 28.2% to 95.6%, greater motivation and active and student-centered involvement was achieved, as well as self-confidence and aprehension of the subject contents. Conclusions: the methodological alternative permitted the teaching faculty to potentiate the students cognitive dimensions and motivations for the subject Morphology and Phisiology I and proved a qualitative and quantitative leap in the results obtained.

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

Fanconi anemia is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. To investigate the origin, functional role, and clinical impact of FANCA mutations, we determined a FANCA mutational spectrum with 130 pathogenic alleles. Some of these mutations were further characterized for their distribution in populations, mode of emergence, or functional consequences at cellular and clinical level. The world most frequent FANCA mutation is not the result of a mutational "hot-spot" but results from worldwide dissemination of an ancestral Indo-European mutation. We provide molecular evidence that total absence of FANCA in humans does not reduce embryonic viability, as the observed frequency of mutation carriers in the Gypsy population equals the expected by Hardy-Weinberg equilibrium. We also prove that long distance Alu-Alu recombination can cause Fanconi anemia by originating large interstitial deletions involving FANCA and 2 adjacent genes. Finally, we show that all missense mutations studied lead to an altered FANCA protein that is unable to relocate to the nucleus and activate the FA/BRCA pathway. This may explain the observed lack of correlation between type of FANCA mutation and cellular phenotype or clinical severity in terms of age of onset of hematologic disease or number of malformations.

Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact.

BACKGROUND: Fanconi anaemia (FA) is a rare syndrome characterized by bone marrow failure, malformations and cancer predisposition. Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing agents such as diepoxybutane (DEB) or mitomycin C (MMC) is the 'gold standard' test for the diagnosis of FA. OBJECTIVE: To study the variability, the diagnostic implications and the clinical impact of chromosome fragility in FA. METHODS: Data are presented from 198 DEB-induced chromosome fragility tests in patients with and without FA where information on genetic subtype, cell sensitivity to MMC and clinical data were available. RESULTS: This large series allowed quantification of the variability and the level of overlap in ICL sensitivity among patients with FA and the normal population. A new chromosome fragility index is proposed that provides a cut-off diagnostic level to unambiguously distinguish patients with FA, including mosaics, from non-FA individuals. Spontaneous chromosome fragility and its correlation with DEB-induced fragility was also analysed, indicating that although both variables are correlated, 54% of patients with FA do not have spontaneous fragility. The data reveal a correlation between malformations and sensitivity to ICL-inducing agents. This correlation was also statistically significant when the analysis was restricted to patients from the FA-A complementation group. Finally, chromosome fragility does not correlate with the age of onset of haematological disease. CONCLUSIONS: This study proposes a new chromosome fragility index and suggests that genome instability during embryo development may be related to malformations in FA, while DEB-induced chromosome breaks in T cells have no prognostic value for the haematological disease.

A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network.

BACKGROUND: Fanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosis of the disease and is required for the recruitment of these patients in gene therapy trials. OBJECTIVE: To determine the subtype of Fanconi anaemia patients in Spain, a Mediterranean country with a relatively high population (23%) of Fanconi anaemia patients belonging to the gypsy race. METHODS: Most patients could be subtyped by retroviral complementation approaches in peripheral blood T cells, although some mosaic patients were subtyped in cultured skin fibroblasts. Other approaches, mainly based on western blot analysis and generation of nuclear RAD51 and FANCJ foci, were required for the subtyping of a minor number of patients. RESULTS AND CONCLUSIONS: From a total of 125 patients included in the Registry of Fanconi Anaemia, samples from 102 patients were available for subtyping analyses. In 89 cases the subtype could be determined and in 8 cases exclusions of common complementation groups were made. Compared with other international studies, a skewed distribution of complementation groups was observed in Spain, where 80% of the families belonged to the Fanconi anaemia group A (FA-A) complementation group. The high proportion of gypsy patients, all of them FA-A, and the absence of patients with FA-C account for this characteristic distribution of complementation groups.

Emergence of chronic myelogenous leukemia in a patient with primary thrombocythemia and absence of BCR/ABL rearrangement.

A 65-year-old woman presented with clinical features of primary thrombocythemia (PT), and absence of the BCR/ABL fusion gene. She responded to hydroxyurea treatment, although after 1 year she required progressive increases in the dose. Six years later, she maintained a high platelet count despite hydroxyurea at 2 g/day and treatment was changed to anagrelide. After 3 weeks, both platelet and leukocyte counts increased. A karyotype study detected the Philadelphia chromosome in all of the 24 metaphases studied. Fluorescent in situ hybridization (FISH) analysis revealed the BCR/ABL rearrangement. The patient was treated with imatinib mesylate and achieved a normal platelet and leukocyte count in 3 weeks. Patients presenting clinical features of PT expressing the Ph chromosome or the BCR/ABL fusion gene have been well documented but, to our knowledge, this is the first report of evolution from typical PT to chronic myeloid leukemia.