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1.
J Clin Nurs ; 32(13-14): 3496-3503, 2023 Jul.
Article in English | MEDLINE | ID: mdl-35799407

ABSTRACT

BACKGROUND: Spasticity is a frequent symptom of multiple sclerosis (MS), which may negatively influence daily living activities (ADL). OBJECTIVES: To (1) explore the feasibility to conduct a structured interview by specialist nurses about limitations in ADL; (2) determine the percentage of people with MS (PwMS) with limitations in ADL related to spasticity; (3) to assess the knowledge about spasticity and describe its clinical features. DESIGN: Observational, cross-sectional, multicentre study in 16 MS units of Catalonia (Spain). Participants were recruited from the outpatient facility and day-care hospital between July 2018 and June 2019 and met the following criteria: (1) age 18 or older, (2) diagnosis of MS according to McDonald criteria 2010 and (3) no clinical relapse in previous 30 days. METHODS: Specialist nurses conducted a structured interview divided in two parts: the assessment of (1) limitations in the ADL and (2) the presence of spasticity and associated symptoms. The usefulness of this intervention was requested. This study met the STROBE reporting guidelines checklist for observational studies. RESULTS: Three hundred sixty eight pwMS (244 women) with a mean age of 46 years and a median Expanded Disability Status Scale score of 2.5 (range, 0-8.5) were included. 262 (71%) pwMS had limitations in the ADL, and spasticity was reported as the most limiting symptom in 59 (23%). As a result of the interview, spasticity was observed in 199 (76%) participants; 47 (24%) of them were unaware that they had spasticity and 102 (51%) would not have reported it spontaneously. The level of the interview satisfaction was high (90%). CONCLUSIONS: Spasticity is a complex and limiting symptom in MS. The structured interview conducted by specialist nurses is feasible and has good acceptance. PATIENT CONTRIBUTION: Specialist nurses can be proactive in MS clinical assessment, which may help to detect symptoms with negative impact on quality of life.


Subject(s)
Multiple Sclerosis , Muscle Spasticity , Nurse Specialists , Multiple Sclerosis/complications , Nurses , Activities of Daily Living , Quality of Life , Humans , Male , Female , Adolescent , Middle Aged , Spain , Adult , Aged , Cross-Sectional Studies
2.
Mol Vis ; 26: 216-225, 2020.
Article in English | MEDLINE | ID: mdl-32214787

ABSTRACT

Purpose: The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. Methods: Three patients from two unrelated families were initially analyzed with custom gene panels for Usher genes, non-syndromic hearing loss, or inherited syndromic retinopathies and further investigated by means of clinical or whole exome sequencing. Results: The study allowed us to detect likely pathogenic variants in PEX6, a gene typically involved in peroxisomal biogenesis disorders (PBDs). Beside deaf-blindness, both families showed additional features: Siblings from Family 1 showed enamel alteration and abnormal peroxisome. In addition, the brother had mild neurodevelopmental delay and nephrolithiasis. The case II:1 from Family 2 showed intellectual disability, enamel alteration, and dysmorphism. Conclusions: We have reported three new cases with pathogenic variants in PEX6 presenting with milder forms of the Zellweger spectrum disorders (ZSD). The three cases showed distinct clinical features. Thus, expanding the phenotypic spectrum of PBDs and ascertaining exome sequencing is an effective strategy for an accurate diagnosis of clinically overlapping and genetically heterogeneous disorders such as deafness-blindness association.


Subject(s)
ATPases Associated with Diverse Cellular Activities/genetics , Hearing Loss, Sensorineural/genetics , Retinitis Pigmentosa/genetics , Zellweger Syndrome/genetics , Adult , Child , Craniofacial Abnormalities/genetics , Dental Enamel/abnormalities , Female , Humans , Intellectual Disability/genetics , Male , Mutation , Nephrolithiasis/genetics , Neurodevelopmental Disorders/genetics , Pedigree , Peroxisomes/genetics , Peroxisomes/metabolism , Peroxisomes/pathology , Exome Sequencing
3.
Clin Infect Dis ; 65(12): 1992-1999, 2017 Nov 29.
Article in English | MEDLINE | ID: mdl-29020166

ABSTRACT

BACKGROUND: The global crisis of bacterial resistance urges the scientific community to implement intervention programs in healthcare facilities to promote an appropriate use of antibiotics. However, the clinical benefits or the impact on resistance of these interventions has not been definitively proved. METHODS: We designed a quasi-experimental intervention study with an interrupted time-series analysis. A multidisciplinary team conducted a multifaceted educational intervention in our tertiary-care hospital over a 5-year period. The main activity of the program consisted of peer-to-peer educational interviews between counselors and prescribers from all departments to reinforce the principles of the proper use of antibiotics. We assessed antibiotic consumption, incidence density of Candida and multidrug-resistant (MDR) bacteria bloodstream infections (BSIs) and their crude death rate per 1000 occupied bed days (OBDs). RESULTS: A quick and intense reduction in antibiotic consumption occurred 6 months after the implementation of the intervention (change in level, -216.8 defined daily doses per 1000 OBDs; 95% confidence interval, -347.5 to -86.1), and was sustained during subsequent years (average reduction, -19,9%). In addition, the increasing trend observed in the preintervention period for the incidence density of candidemia and MDR BSI (+0.018 cases per 1000 OBDs per quarter; 95% confidence interval, -.003 to .039) reverted toward a decreasing trend of -0.130 per quarter (change in slope, -0.029; -.051 to -.008), and so did the mortality rate (change in slope, -0.015; -.021 to -.008). CONCLUSIONS: This education-based antimicrobial stewardship program was effective in decreasing the incidence and mortality rate of hospital-acquired candidemia and MDR BSI through sustained reduction in antibiotic use.


Subject(s)
Antimicrobial Stewardship/methods , Candidemia/blood , Candidemia/drug therapy , Cross Infection/drug therapy , Drug Resistance, Multiple, Bacterial , Anti-Bacterial Agents/administration & dosage , Anti-Bacterial Agents/adverse effects , Anti-Bacterial Agents/therapeutic use , Candidemia/microbiology , Candidemia/mortality , Cross Infection/microbiology , Drug Prescriptions/statistics & numerical data , Drug Utilization/statistics & numerical data , Drug Utilization/trends , Humans , Interrupted Time Series Analysis , Mortality/trends , Physician's Role , Practice Patterns, Physicians'/statistics & numerical data , Practice Patterns, Physicians'/trends , Tertiary Care Centers
4.
Clin Exp Ophthalmol ; 38(5): 489-95, 2010 Jul.
Article in English | MEDLINE | ID: mdl-20649618

ABSTRACT

BACKGROUND: This study was undertaken to analyse the OA1 gene (GPR143) and its involvement in a Spanish family presenting with nystagmus, a common symptom of X-linked ocular albinism (XLOA). METHODS: DNA samples from the index case and eight relatives were analysed by multiplex ligation-dependent probe amplification (MLPA). Sequence analysis and restriction assay were used to confirm the results. In addition, an analysis of a STR located in intron 1 of the OA1 gene (OA-CA) was performed. RESULTS: The father of the proband presented with nystagmus, a feature consistent with XLOA. Mutation screening by multiplex ligation-dependent probe amplification and sequence analysis of the exon 2 of the OA1 gene led to the identification of the novel p.Glu129fsX35 (g.5815delA) mutation in two affected males and four carrier females. Three relatives were found to be non-mutated. The deletion detected resulted in a truncated protein 35 codons downstream and generated a new restriction site for the XcmI endonuclease. Additionally, microsatellite analysis showed co-segregation with the disease in the family. CONCLUSIONS: A novel deletion in the OA1 gene was identified in a Spanish family with ocular albinism. The mutation detected is likely a loss-of-function alteration. To the best of our knowledge, we describe the first Spanish family known to present with XLOA due to mutations in the OA1 gene.


Subject(s)
Albinism, Ocular/genetics , Chromosomes, Human, X , Eye Proteins/genetics , Gene Deletion , Membrane Glycoproteins/genetics , Adult , Amino Acid Sequence , Family Health , Female , Humans , Male , Molecular Sequence Data , Pedigree , Point Mutation , Spain
5.
J Exp Med ; 216(5): 1061-1070, 2019 05 06.
Article in English | MEDLINE | ID: mdl-30975894

ABSTRACT

Liquid biopsies from cancer patients have the potential to improve diagnosis and prognosis. The assessment of surrogate markers of tumor progression in circulating extracellular vesicles could be a powerful non-invasive approach in this setting. We have characterized extracellular vesicles purified from the lymphatic drainage also known as exudative seroma (ES) of stage III melanoma patients obtained after lymphadenectomy. Proteomic analysis showed that seroma-derived exosomes are enriched in proteins resembling melanoma progression. In addition, we found that the BRAFV600E mutation can be detected in ES-derived extracellular vesicles and its detection correlated with patients at risk of relapse.


Subject(s)
Disease Progression , Extracellular Vesicles/metabolism , Exudates and Transudates/metabolism , Melanoma/genetics , Melanoma/metabolism , Mutation , Proto-Oncogene Proteins B-raf/genetics , Seroma/metabolism , Skin Neoplasms/genetics , Skin Neoplasms/metabolism , Adult , Aged , Aged, 80 and over , Biomarkers, Tumor/metabolism , Cell Line, Tumor , Cohort Studies , Disease-Free Survival , Drainage , Exosomes/metabolism , Female , Humans , Lymphatic Metastasis , Male , Melanoma/pathology , Middle Aged , Proteomics/methods , Skin Neoplasms/pathology
6.
Psicothema ; 29(4): 527-532, 2017 Nov.
Article in English | MEDLINE | ID: mdl-29048314

ABSTRACT

BACKGROUND: University lecturers often complain about their students’ lack of learning strategies, but not many universities in Spain offer specific courses in this area. Studies on their effectiveness are also rare. METHOD: This study presents the results of a Learning Strategies Course implemented at the School of Teacher Training and Education, University of Oviedo, Spain. A quasi-experimental design was used with an experi-mental (n = 60) and a control group (n = 57) of students on the Educational Psychology course. A Spanish adaptation of the Motivated Strategies for Learning Questionnaire (MSLQ): the CEAMR2 was used as a pre and post-test measure. Group A (EG) received training in learning strategies, while group B (CG) received no training. RESULTS: Post-test measures showed significant differences in five out of the ten learning strategies assessed: elaboration, organization, repetition, self-questioning and study space, and also an improvement in one out of the six motivational scales: control of learning beliefs. DISCUSSION: The results suggest that learning strategies courses with proven effectiveness should be offered to university students.


Subject(s)
Education/methods , Learning , Female , Humans , Male , Motivation , Universities , Young Adult
7.
Eur J Med Chem ; 40(1): 75-83, 2005 Jan.
Article in English | MEDLINE | ID: mdl-15642412

ABSTRACT

The 3D models of both CB1 and CB2 human receptors have been established by homology modeling using as template the X-ray structure of bovine Rhodopsin (code pdb: 1F88) a G-protein-coupled receptor (GPCR). A recursive approach comprising sequence alignment and model building was used to build both models, followed by the refinement of non-conserved regions. The cannabinoid system has been studied by means of docking techniques, using the 3D models of both CB1 and CB2 and well known reference inverse agonist/antagonist compounds. An approach based on the flexibility of the structures has been used to model the receptor-ligand complexes. The structural effects of ligand binding were studied and analyzed on the basis of hydrogen bond interactions, and binding energy calculations. Potential interaction sites of the receptor were determined from analysis of the difference accessible surface area (DASA) study of the protein with and without ligand.


Subject(s)
Models, Molecular , Receptor, Cannabinoid, CB1/chemistry , Receptor, Cannabinoid, CB2/chemistry , Sequence Homology, Amino Acid , Computer Simulation , Hydrogen Bonding , Ligands , Protein Binding , Protein Conformation/drug effects , Receptor, Cannabinoid, CB1/antagonists & inhibitors , Receptor, Cannabinoid, CB2/antagonists & inhibitors , Sequence Alignment
8.
J Agric Food Chem ; 53(4): 1058-64, 2005 Feb 23.
Article in English | MEDLINE | ID: mdl-15713020

ABSTRACT

Brandy de Jerez is aged in American oak casks according to the traditional dynamic system (Soleras y Criaderas) and sometimes additionally by the static system (Anadas). The experimental arrangement used here for the analytical monitoring of brandy aging consisted of 15 casks, 12 of which were set up for aging by the dynamic system, which is well established in the denomination of origin area, whereas the other 3 contained the same brandy but aged according to the static system. This paper studies the kinetics of sugar extraction from oak wood to distillate, as well as the possible correlations between the sugar contents in brandy and its age or the commercial type it belongs to (Solera, Solera Reserva, or Solera Gran Reserva). High-performance anion-exchange chromatography with pulsed amperometric detection was used as the analytical tool to measure the concentrations of glucose, fructose, arabinose, galactose, and xylose, the presence of which in brandy has previously been described.


Subject(s)
Alcoholic Beverages/analysis , Carbohydrates/analysis , Food Handling/methods , Alcoholic Beverages/classification , Arabinose/analysis , Chromatography, High Pressure Liquid , Fructose/analysis , Galactose/analysis , Glucose/analysis , Kinetics , Quercus , Time Factors , Wood , Xylose/analysis
9.
Nutr. clín. diet. hosp ; 40(2): 112-119, 2020. tab, graf
Article in Spanish | IBECS (Spain) | ID: ibc-198976

ABSTRACT

INTRODUCCIÓN: En los últimos años, los eventos que cuentan con la presencia de Food Trucks se han incrementado considerablemente. En ellos, la elaboración de alimentos inocuos es difícil debido a su reducido espacio, deficiencias de infraestructuras y servicios básicos (como el suministro de agua potable), así como por la gran afluencia de consumidores. OBJETIVOS: El objetivo de este trabajo ha consistido en la evaluación de las infraestructuras, las condiciones de operación y el entorno de los Food Trucks, en el contexto del sistema de Análisis de Peligros y Puntos de Control Crítico (APPCC). MÉTODOS: Se ha evaluado una muestra de 20 Food Trucks, mediante un estudio observacional y el diseño de un cuestionario para la recogida de datos. RESULTADOS: En el análisis de las condiciones de operación no se identificó ningún vehículo con medidas eficaces para evitar la entrada de plagas, y en todos ellos se comprobó que realizaban prácticas que podían atraer su presencia. En el análisis de las infraestructuras se observaron importantes deficiencias. El 46 % de los vehículos carecían de agua caliente y fría y el 46 % no disponían de jabón ni papel. DISCUSIÓN: Los resultados obtenidos en este estudio muestran la existencia de deficiencias significativas en las infraestructuras y en las condiciones de operación de los Food Trucks, que dificultan garantizar la inocuidad de los alimentos que elaboran. CONCLUSIONES: Los Food Trucks necesitan ser diseñados siguiendo criterios higiénicos y además se debería incrementar la supervisión de este tipo de establecimientos por parte de las autoridades de control


INTRODUCTION: In recent years, the events in wich Food Trucks can be found have increased dramatically. Food safety is difficult to achieve due to certain characteristics such as limited space, lack of infrastructure and basic services (such as water supply), and large influx of customers. OBJECTIVES: The objective of this work has been to evaluate the facilities, the operational conditions and the surroundings of Food Trucks, in the context of the Hazard Analysis and Critical Control Points (HACCP) system. METHODS: A 20 vehicle sample has been evaluated through an observational study and the design of three questionnaires for the data collection. RESULTS: The analysis of the operating conditions did not identify any vehicles with effective measures to prevent the entry of pests, and all of them were found to carry out practices that could attract their presence. The analysis of the infrastructure showed significant deficiencies. 46 % of the vehicles had no hot or cold water and 46 % had no soap or paper. DISCUSSION: The results indicate the existance of significant deficiences in the facilities, operational conditions and surroundings of Food Trucks. Conclussions: Food Trucks must be designed according to the premises of hygenic design and they need a better supervision by food control authorites


Subject(s)
Humans , Street Food , Food Services/standards , Food Handling/standards , 50328 , Legislation, Food , Functioning License
10.
Nutr. clín. diet. hosp ; 39(3): 96-103, 2019. tab, graf
Article in Spanish | IBECS (Spain) | ID: ibc-191625

ABSTRACT

INTRODUCCIÓN: La popularidad de los Food Truck es creciente en nuestro país. Los Food Trucks o vehículos de venta ambulante de alimentos, debido a su reducido espacio, ausencia de localización permanente y gran afluencia de clientes, favorecen las contaminaciones cruzadas durante la elaboración de los alimentos y en consecuencia, podrían contribuir a la presentación de toxiinfecciones alimentarias en la población que los frecuenta. OBJETIVOS: El objetivo de este trabajo ha consistido en la evaluación de las prácticas higiénico-sanitarias de los manipuladores de alimentos en Food Trucks, en el contexto del sistema de Análisis de Peligros y Puntos de Control Crítico (APPCC). MÉTODOS: Se ha evaluado una muestra de 20 Food Trucks, mediante un estudio observacional y el diseño de un cuestionario para la recogida de datos. RESULTADOS: En el 95 % de los vehículos analizados, los manipuladores tocaron los alimentos directamente con las manos, y en el 60 % entraron en contacto con dinero. Respecto a la higiene y limpieza personal, no se observó ningún cambio de guantes ni lavado de manos, ni tampoco se apreció ninguna limpieza de superficies o utensilios. Respecto a la realización de prácticas de riesgo, en el 70 % de los Food Trucks se observaron alimentos que precisaban refrigeración mantenidos a temperatura ambiente, en el 65 % se apreciaron prácticas causantes de contaminación cruzada y en el 95 % se identificaron fuentes potenciales de contaminación. DISCUSIÓN: Estos resultados revelaron que existe un desconocimiento generalizado sobre las buenas prácticas higiénicas de manipulación de los trabajadores de los Food Trucks. CONCLUSIONES: El estudio realizado pone de manifiesto la necesidad de potenciar la formación de los trabajadores de los Food Trucks en las buenas prácticas higiénicas de manipulación de los alimentos, así como la conveniencia de una mayor vigilancia de este tipo de vehículos por parte de los organismos de control


INTRODUCTION: The popularity of Food Trucks is growing in our country. Food Trucks or mobile food vending vehicles due to their reduced space, the lack of permanent location and the large influx of customers, increases the risk of cross-contamination during food preparation and as a consequence, foodborne illness may occur. OBJECTIVES: The objective of this work was to evaluate the hygiene and health practices of the food handlers of Food Trucks, in the context of a Hazard Analysis and Critical Control Point (HACCP). METHODS: A 20 vehicle sample have been evaluated, through an observational study and the design of a questionnaire to collect data. RESULTS: In 95 % of the vehicles, handlers touched food barehanded and in 60%, handlers touched money. Regarding the cleaning and personal hygiene, no glove changing nor hand washing was observed, moreover, no surface nor kitchenware cleaning was observed. Regarding the risky practices observed, in 70 % of Food Trucks food that required refrigeration temperatures was mantained at room temperature, in 65 % practices that can cause cross-contamination were observed and in 95 % potential contamination sources were observed. DISCUSSION: These results revealed a general lack of knowledge of the correct hygienic handling practices by the workers of Food Trucks. CONCLUSIONS: This study highlights the need to improve the workers' training in the correct hygienic handling practices and a better control of Food Trucks by the food safety authorities


Subject(s)
Humans , Male , Female , Food Supply , Food Hygiene/standards , Restaurants/standards , Surveys and Questionnaires
12.
Matronas prof ; 24(3): [1-10], 2023. tab, ilus
Article in Spanish | IBECS (Spain) | ID: ibc-228220

ABSTRACT

Introducción: La ansiedad perinatal es un trastorno de salud mental que pone en riesgo la tranquilidad y el estado emocional de las mujeres embarazadas, haciéndolas pasar por episodios de preocupación excesiva, miedo desmedido o angustia desmesurada, entre otros. Objetivo: Sintetizar la evidencia científica en torno a los factores obstétricos asociados a la ansiedad en gestantes durante la pandemia de COVID-19. Metodología: Revisión bibliográfica realizada con artículos originales publicados durante el periodo 2020-2022 en las bases de datos PubMed, SciELO y LILACS. La estrategia de búsqueda utilizó términos como Anxiety, Pregnan*, prenatal, COVID-19 y factors, conectados con operadores booleanos. Resultados: En la búsqueda inicial se encontraron 296 artículos, de los cuales 18 fueron seleccionados para la revisión final. La mayoría de los estudios fueron realizados en China (38,9 %), y el instrumento más utilizado para medir la ansiedad fue la Escala de Ansiedad Generalizada (GAD-7). Los factores más relevantes que se encontraron asociados con la ansiedad perinatal fueron el embarazo no planificado, la existencia de complicaciones durante la gestación, y las percepciones negativas en torno a la atención prenatal recibida. Conclusiones: Es importante realizar una atención de calidad y un seguimiento oportuno y continuo para identificar y tratar oportunamente los casos de ansiedad en el embarazo, siendo necesario que los profesionales estén capacitados para esta labor, y transferir a la gestante al área de Psicología para su debido tratamiento. (AU)


Introduction: Perinatal anxiety is a mental health disorder that puts the calm and emotional state of pregnant women at risk, making them go through episodes of excessive worry, excessive fear, excessive anguish, among others. Objective: To synthesize the scientific evidence around the obstetric factors associated with anxiety in pregnant women during the COVID-19 pandemic. Methodology: Bibliographic review carried out with original articles published during the period 2020-2022 in the PubMed, SciELO and LILACS databases. The search strategy used terms such as Anxiety, Pregnan*, prenatal, COVID-19 and factors, connected with Boolean operators. Results: In the initial search, 296 articles were found, of which 18 were selected for the final review. Most of the studies were carried out in China (38.9%) and the most widely used instrument to measure anxiety was the Generalized Anxiety Scale (GAD-7). The most relevant factors found to be associated with perinatal anxiety were unplanned pregnancy, the existence of complications during pregnancy, and negative perceptions of prenatal care received. Conclusions: It is important to carry out a quality and timely and continuous follow-up to identify and timely treat cases of anxiety in pregnancy, it being necessary for professionals to be trained for this task and transfer the pregnant woman to the psychology area for proper treatment. (AU)


Subject(s)
Humans , Female , Pregnancy , Anxiety , /psychology , Pregnant Women/psychology , Pregnancy, Unplanned/psychology , Pregnancy Complications/psychology , Risk Factors
13.
Psicothema (Oviedo) ; 29(4): 527-532, nov. 2017. tab
Article in English | IBECS (Spain) | ID: ibc-167762

ABSTRACT

Background: University lecturers often complain about their students' lack of learning strategies, but not many universities in Spain offer specific courses in this area. Studies on their effectiveness are also rare. Method: This study presents the results of a Learning Strategies Course implemented at the School of Teacher Training and Education, University of Oviedo, Spain. A quasi-experimental design was used with an experi-mental (n = 60) and a control group (n = 57) of students on the Educational Psychology course. A Spanish adaptation of the Motivated Strategies for Learning Questionnaire (MSLQ): the CEAMR2 was used as a pre and post-test measure. Group A (EG) received training in learning strategies, while group B (CG) received no training. Results: Post-test measures showed significant differences in five out of the ten learning strategies assessed: elaboration, organization, repetition, self-questioning and study space, and also an improvement in one out of the six motivational scales: control of learning beliefs. Discussion: The results suggest that learning strategies courses with proven effectiveness should be offered to university students (AU)


Antecedentes: los profesores universitarios se quejan de la forma de estudiar sus alumnos, pero escasean en nuestro país cursos específicos en este área y estudios sobre su eficacia. Método: presentamos los resultados obtenidos con el Curso de Estrategias de Aprendizaje en un grupo de estudiantes de la Facultad de Formación del Profesorado y Educación de la Universidad de Oviedo. Se utilizó un diseño quasi-experimental con grupo experimental (n = 60) y grupo de control(n = 57), formados por estudiantes de primer curso de la asignatura Psicología de la Educación. Se utilizó el Cuestionario de Estrategias de Aprendizaje y Motivación (CEAM-R2), adaptación del MSLQ, como medida pre y post-test. El grupo A (GE) recibió entrenamiento en estrategias de aprendizaje, mientras que el grupo B (GC) no lo recibió. Resultados: el posttest muestra diferencias significativas en cinco de las diez estrategias de aprendizaje evaluadas: elaboración, organización, repetición, auto-interrogación y lugar de estudio, y también en una de las seis escalas motivacionales: creencias de control del aprendizaje. Discusión: los resultados sugieren que se deberían ofertar a los universitarios cursos de estrategias de aprendizaje eficaces (AU)


Subject(s)
Humans , Learning Curve , Learning , Strategic Planning , Psychology, Educational/methods , Evaluation of the Efficacy-Effectiveness of Interventions , Students/statistics & numerical data , Sensitivity Training Groups/organization & administration , Courses , 35174 , Psychometrics/instrumentation
14.
Rev. Nac. (Itauguá) ; 8(2): 81-93, dic 2016.
Article in Spanish | LILACS, BDNPAR | ID: biblio-884762

ABSTRACT

RESUMEN La malformación arteriovenosa uterina (MAVU) es una causa poco frecuente de sangrado uterino, dado que en la mayoría de casos cursa de forma asintomática. Las MAVU son dilataciones varicosas arteriovenosas intramiometriales sin afectación capilar. Plantean un reto diagnóstico y terapéutico en el esfuerzo de la preservación de la fertilidad, constituyéndose la embolización como su principal tratamiento. En la actualidad, el estándar de oro para el diagnóstico de esta patología es la angiografía. Sin embargo, las modalidades menos invasivas como la ecografía Doppler color se utilizan cada vez más para el diagnóstico. Se presenta el caso de una mujer de 20 años de edad, con antecedente de embarazo molar y sangrado menstrual excesivo debido a MAVU.


ABSTRACT Uterine arteriovenous malformation (AVMV) is a rare cause of uterine bleeding, since most cases are asymptomatic. The MAVU are intramyometrial arteriovenous variceal dilatations without capillary involvement. They propouse a diagnostic and therapeutic challenge in the effort for preservation of fertility, constituting the embolization its main treatment. At present, the gold standard for the diagnosis of this pathology is angiography. However, less invasive modalities such as color Doppler ultrasound are increasingly used for diagnosis. We present the case of a 20-year-old woman with a history of molar pregnancy and excessive menstrual bleeding due to MAVU.


Subject(s)
Humans , Female , Adult , Young Adult , Arteriovenous Malformations/therapy , Arteriovenous Malformations/diagnostic imaging , Uterine Artery Embolization , Uterine Artery/abnormalities , Angiography , Magnetic Resonance Spectroscopy , Ultrasonography, Doppler, Color , Uterine Artery/diagnostic imaging
15.
Invest Ophthalmol Vis Sci ; 52(9): 6206-12, 2011 Aug 05.
Article in English | MEDLINE | ID: mdl-21330655

ABSTRACT

PURPOSE: Mutations in ABCA4 have been associated with autosomal recessive Stargardt disease, autosomal recessive cone-rod dystrophy, and autosomal recessive retinitis pigmentosa. The purpose of this study was to determine (1) associations among mutations and polymorphisms and (2) the role of the polymorphisms as protector/risk factors. METHODS: A case-control study was designed in which 128 Spanish patients and 84 control individuals were analyzed. Patient samples presented one or two mutated alleles previously identified using ABCR400 microarray and sequencing. RESULTS: A total of 18 previously described polymorphisms were studied in patients and control individuals. All except one presented a polymorphisms frequency higher than 5% in patients, and five mutations were found to have a frequency >5%. The use of statistical methods showed that the frequency of the majority of polymorphisms was similar in patients and controls, except for the IVS10+5delG, p.Asn1868Ile, IVS48+21C>T, and p.Arg943Gln polymorphisms. In addition, IVS48+21C>T and p.Arg943Gln were found to be in linkage disequilibrium with the p.Gly1961Glu and p.Arg602Trp mutations, respectively. CONCLUSIONS: Although the high allelic heterogeneity in ABCA4 and the wide spectrum of many common and rare polymorphisms complicate the interpretation of clinical relevance, polymorphisms were identified that may act as risk factors (p.Asn1868Ile) and others that may act as protection factors (p.His423Arg and IVS10+5 delG).


Subject(s)
ATP-Binding Cassette Transporters/genetics , Macular Degeneration/genetics , Mutation , Photoreceptor Cells, Vertebrate/pathology , Polymorphism, Single Nucleotide , Retinitis Pigmentosa/genetics , Alleles , Case-Control Studies , Electrooculography , Electroretinography , Fluorescein Angiography , Genotype , Humans , Macular Degeneration/diagnosis , Macular Degeneration/prevention & control , Oligonucleotide Array Sequence Analysis , Polymerase Chain Reaction , Retinitis Pigmentosa/diagnosis , Retinitis Pigmentosa/prevention & control , Risk Factors , Sequence Homology
16.
Invest Ophthalmol Vis Sci ; 51(5): 2615-9, 2010 May.
Article in English | MEDLINE | ID: mdl-19959634

ABSTRACT

PURPOSE: Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD), a few cases of autosomal recessive cone-rod dystrophy (arCRD), and autosomal recessive retinitis pigmentosa (arRP). The purpose of this study was to compare high-resolution melting (HRM) analysis with denaturing high-performance liquid chromatography (dHPLC), to evaluate the efficiency of the different screening methodologies. METHODS: Thirty-eight STGD, 15 arCRD, and 5 arRP unrelated Spanish patients who had been analyzed with the ABCR microarray were evaluated. The results were confirmed by direct sequencing. In patients with either no or only one mutant allele, ABCA4 was further analyzed by HRM and dHPLC. Haplotype analysis was also performed. RESULTS: In a previous microarray analysis, 37 ABCA4 variants (37/116; 31.9%) were found. dHPLC and HRM scanning identified 18 different genotypes in 20 samples. Of the samples studied, 19/20 were identified correctly by HRM and 16/20 by dHPLC. One homozygous mutation was not detected by dHPLC; however, the p.Cys2137Tyr homozygote was distinguished from the wild-type by HRM technique. In the same way, one novel change in exon 5 (p.Arg187His) was found only by means of the HRM technique. In addition, dHPLC identified the mutation p.Trp1724Cys in one sample; however, HRM detected the mutation in two samples. CONCLUSIONS: ABCA4 should be analyzed by an optimal screening technique, to perform further characterization of pathologic alleles. The results seemed to show that HRM had better sensitivity and specificity than did dHPLC, with the advantage that some homozygous sequence alterations were identifiable.


Subject(s)
ATP-Binding Cassette Transporters/genetics , Chromatography, High Pressure Liquid , DNA Mutational Analysis , Macular Degeneration/genetics , Retinitis Pigmentosa/genetics , Transition Temperature , Genotype , Oligonucleotide Array Sequence Analysis , Protein Denaturation , Retinal Degeneration/genetics , Sensitivity and Specificity
18.
Cad. saúde pública ; 11(2): 305-13, abr.-jun. 1995.
Article in Spanish | LILACS | ID: lil-159034

ABSTRACT

Observa la influencia que la "Conferência Nacional de Saúde e Direitos da Mulher", realizada en Brasília, en 1986, tuvo sobre las principales publicaciones periódicas del área de la salud pública de Brasil, respecto al tema de la mujer. Se muestran los artículos publicados en tres revistas del área, relacionados con la salud de la mujer; sin pretender realizar un análisis profundo del contenido de los artículos citados. Para ello, se organizaron por área temática los artículos publicados a partir de 1986 en las tres revista: Revista de Saúde Pública, Saúde em Debate, y Cadernos de Saúde Pública. Se examinaron los artículos que tratan de la mujer, número de publicaciones y aspectos tratados en su contenido.


Subject(s)
Periodical , Women's Health
19.
Med. actual ; 5(1): 8-12, 2004. tab
Article in Spanish | LILACS, BDNPAR | ID: lil-438212

ABSTRACT

La intensión de esta investigación es relacionar las horas de lectura con la miopia. Se realizo un estudio observacional descriptivo, de corte transversal, con un componente analitico, donde se comparó estudiantes de medicina de la Universidad Nacional de Asunción y transeúntes del centro de Asunción, para el mismo se reclutaron 100 estudiantes de primer curso, 100 estudiantes de sexto curso y 100 transeúntes, siendo el número de hombres y mujeres igual. Se vió una frecuencia de 51 por ciento de personas con miopia en los estudiantes de medicina, contrastando con un 29 por ciento de los mismos en los transeúntes (p=0,00013); un 45, 8 por ciento de los miopes y un 34,3 por ciento de los no miopes lee mas de 12 horas por semana, donde se ve que las horas de lecturas es significativamente mayor en los miopes (p=0,02)


Subject(s)
Reading , Myopia
20.
Rev. Rol enferm ; 23(1): 27-31, ene. 2000. ilus, tab, graf
Article in Es | IBECS (Spain) | ID: ibc-33979

ABSTRACT

Tras evaluar anualmente la repercusión en las mujeres de un programa de salud en la menopausia, se estudia si los resultados obtenidos permanecen a más largo plazo. El estudio de corte transversal se efectúa en el año 1998 sobre una muestra aleatoria del total de mujeres que asisten al programa de Educación durante los años 1995 Y 1996, realizándose, además, una comparación entre ambos grupos. Los resultados muestran que las mujeres, una vez que han adquirido los conocimientos que fundamentan la práctica de hábitos saludables, los integran en su estilo de vida de forma permanente. Parte de este trabajo fue expuesto en comunicación oral en las Jornadas Andaluzas de Enfermería Ginecológica, celebradas en Sevilla en noviembre de 1998 (AU)


Subject(s)
Adult , Female , Middle Aged , Humans , Menopause , Health Promotion/statistics & numerical data , Cross-Sectional Studies , Health Programs and Plans , Health Education/methods , Life Style , Epidemiology, Descriptive , Attitude to Health , Exercise
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