48 results on '"Guerra, Gil"'
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2. Efectos de la enfermedad de Parkinson en el procesamiento de información fonológica y semántica durante el acceso al léxico. Una revisión actual
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Novoa Lagos, Abraham Benjamín, Véliz de Vos, María Mónica, and Guerra Gil, Ernesto Eduardo
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- 2023
- Full Text
- View/download PDF
3. Patient-reported convenience and effectiveness of telehealth for breast cancer management.
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Raghavendra, Akshara Singareeka, Jennings, Kristofer, Guerra, Gil, Tripathy, Debu, and Karuturi, Meghan S
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BREAST tumor treatment ,HEALTH services accessibility ,CANCER treatment ,MEDICAL quality control ,ACADEMIC medical centers ,OUTPATIENT services in hospitals ,QUESTIONNAIRES ,PRIVACY ,BREAST tumors ,CANCER patients ,DESCRIPTIVE statistics ,CHI-squared test ,AGE distribution ,FAMILY history (Medicine) ,TELEMEDICINE ,SURVEYS ,RACE ,CANCER chemotherapy ,ELECTRONIC health records ,MARITAL status ,PATIENT satisfaction ,CONFIDENCE intervals ,TUMOR classification ,PATIENTS' attitudes ,SPECIALTY hospitals ,MEDICAL ethics ,OVERALL survival - Abstract
Background Before the coronavirus disease 2019 (COVID-19) pandemic, telehealth was rarely used for breast cancer management at tertiary care centers. We sought to examine patient satisfaction, experiences, preferences, and perceived effectiveness and technical quality of telehealth visits in follow-up patients receiving routine outpatient care in the breast medical oncology practice at The University of Texas MD Anderson Cancer Center. Methods We administered a survey to 60 follow-up patients for a duration of 9 months (January 5, 2021 to October 27, 2021) who had at least one telehealth consultation during the COVID-19 pandemic, from April 10, 2020 to October 21, 2021. Descriptive statistics were then generated for each question, each domain, and overall survey scores. Subgroup comparisons within patient populations were done using the chi-square or t -test when appropriate. Results Among the 60 participants, 49 (82%) were undergoing standard follow-up during active treatment for either early-stage or metastatic breast cancer. Telehealth and in-person office visits were considered equivalent in terms of quality of communication by 43 participants (72%). Most participants (n = 49, 82%) felt equally cared for during telehealth and in-person visits, and 40 participants (67%) reported feeling connected to their healthcare professional during both telehealth and in-person visits. In addition, 28 participants (47%) felt that the duration of telehealth visits was similar to in-person visits, 46 (77%) found both telehealth and in-person visits equally comfortable for discussing sensitive topics, 39 (65%) considered telehealth visits convenient, and 42 (70%) perceived the overall quality of care for telehealth to be similar to that of in-person visits. Participants expressed high satisfaction with telehealth appointments, with 42 (70%) rating their experience as very satisfying. Most participants (n = 44, 73%) expressed a strong likelihood of participating in telehealth appointments for breast cancer follow-up care in the future. Conclusions Our results indicate that telehealth can serve as an effective and satisfactory approach for delivering healthcare services to patients with breast cancer requiring follow-up care. The positive experiences and willingness to continue using telehealth indicate its potential for improving access to care and patient outcomes. [ABSTRACT FROM AUTHOR]
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- 2024
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4. Development of a GIS-Method to Determine Solar Feed-In Time SeriesAnd Solar Potential
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Guerra Gil, Irene
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Full Load Hours ,Simulación energética ,Photovoltaic solar energy ,Geographic Information System ,Solar potential ,Geographical Information System ,PostgreSQL ,Máster Universitario en Ingeniería Industrial-Màster Universitari en Enginyeria Industrial ,Potencial solar ,Electricity Generation Time Series ,MAQUINAS Y MOTORES TERMICOS ,Energy system simulation ,Building-Integrated Photovoltaic Systems ,Energía solar fotovoltaica ,Sistema de Información Geográfico ,Python - Abstract
[ES] El objetivo de este proyecto es desarrollar un SIG (Sistema de Información Geográfica) para averiguar cuánta electricidad puede generarse con paneles solares fotovoltaicos integrados en edificios para el estado federal de Baviera, el cual se utiliza como zona de observación ejemplar (con la posibilidad de ampliarla a toda Alemania). El potencial de generación de electricidad de Baviera se exportará y calculará a partir de los datos ya existentes. La base de datos "3DCityDatabase", una base de datos pública y gratuita que contiene información sobre todos los edificios de Alemania, se utilizará para extraer información sobre la superficie de los tejados, la inclinación y la orientación de los tejados de toda Alemania. Otros parámetros como la irradiación solar se procederán a introducir en el modelo para obtener el potencial solar de Baviera. Una vez obtenido el potencial de generación de electricidad (en kWh), se obtendrá una serie temporal de alimentación para sistemas fotovoltaicos de autoconsumo (kW) que será la exportación final del proyecto. Todo el método se validará con simulaciones de sistemas energéticos utilizando Python y PostgreSQL., [EN] This thesis intends to calculate the solar energy potential of the Federal State of Bavaria for photovoltaic systems installed in building’s rooftops. Bavaria, with a total surface area of 70.550 km2 , is the region in Germany with the highest solar energy potential. In this thesis, a methodology is developed to calculate the solar potential by using the data from the 3D City Database, a database that contains information on all buildings of many countries of the world, including Germany. The methodology involves firstly the extraction of relevant parameters from the 3D City Database. The rooftop area, azimuth angle and inclination for all buildings present in Bavaria is obtained. Secondly, the useful roof surface area where photovoltaic arrays can be installed, as well as the total possible number of PV modules per rooftop is calculated. These parameters are obtained using the technical characteristics from a chosen PV module and correction coefficients from past literature. In the next phase of the study, the irradiation data from the German Meteorological Services for the year 2019 is introduced in the model. The results of the thesis include the solar potential in GWp, the distribution of the possible number of PV modules with respect to the different rooftop inclinations and orientations in Bavaria and an electricity generation time series for 2019. The time series portrays the hourly electricity generation capacity factors achievable with building-integrated photovoltaic systems for each Government District in Bavaria. These results represent the solar potential of the Federal State of Bavaria
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- 2022
5. Anthropometry and physical appearance can be associated with quality of life in Brazilian women with Turner syndrome
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Reis, Carolina Trombeta, primary, Macedo, Marina Cruvinel, additional, Morcillo, André Moreno, additional, Guerra, Gil, additional, and Lemos-Marini, Sofia Helena Valente de, additional
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- 2022
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6. Éxodo en personal de Atención Primaria de Salud
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Reinaldo Marín Reyes, Gilda Scull Scull, Juana Govín Scull, and Estela Guerra Gil
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éxodo del personal ,atención primaria de salud ,Medicine ,Medicine (General) ,R5-920 - Abstract
Se realizó un estudio descriptivo y transversal al universo de 25 trabajadores, que causaron baja en el segundo semestre del año 2011, en la Unidad Presupuestada de Salud Pública del municipio de San Nicolás, provincia Mayabeque, con el objetivo de determinar cómo se manifiesta el funcionamiento de la Atención Primaria de Salud en relación al éxodo del personal, así como las principales causas del mismo en la entidad. Se manifiesta el éxodo de forma diferente según la edad, nivel cultural, siendo los jóvenes los que más fluctuaron. La categoría ocupacional de operarios es la más afectada. El déficit de recursos humanos por esta causa afecta el cumplimiento de programas de salud, ejemplo: el de enfermedades transmisibles. El mayor éxodo ocurrió en el segundo trimestre del segundo semestre del año, en la unidad policlínico y la causal fue problemas del trabajador en el centro de trabajo por la inconformidad con el salario, factor importante en el estímulo al trabajador. Por lo que se concluye que el éxodo de los trabajadores estuvo dado por la inconformidad con el salario y la falta de estímulo y cómo este fenómeno puede deprimir los indicadores de la calidad de la Atención Primaria de Salud. Se recomienda reforzar el trabajo político ideológico con los trabajadores y se realicen futuros estudios al salario.
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- 2012
7. Gonadectomy in conditions affecting sex development:A registry-based cohort study
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Lucas-Herald, Angela K., Bryce, Jillian, Kyriakou, Andreas, Ljubicic, Marie Lindhardt, Arlt, Wiebke, Audi, Laura, Balsamo, Antonio, Baronio, Federico, Bertelloni, Silvano, Bettendorf, Markus, Brooke, Antonia, Van Der Grinten, Hedi L.Claahsen, Davies, Justin H., Hermann, Gloria, De Vries, Liat, Hughes, Ieuan A., Tadokoro-Cuccaro, Rieko, Darendeliler, Feyza, Poyrazoglu, Sukran, Ellaithi, Mona, Evliyaoglu, Olcay, Fica, Simone, Nedelea, Lavinia, Gawlik, Aneta, Globa, Evgenia, Zelinska, Nataliya, Guran, Tulay, Güven, Ayla, Hannema, Sabine E., Hiort, Olaf, Holterhus, Paul Martin, Iotova, Violeta, Mladenov, Vilhelm, Jain, Vandana, Sharma, Rajni, Jennane, Farida, Johnston, Colin, Guerra, Gil, Konrad, Daniel, Gaisl, Odile, Krone, Nils, Krone, Ruth, Lachlan, Katherine, Li, Dejun, Lichiardopol, Corina, Lisa, Lidka, Markosyan, Renata, Mazen, Inas, Mohnike, Klaus, Niedziela, Marek, Nordenstrom, Anna, Rey, Rodolfo, Skaeil, Mars, Tack, Lloyd J.W., Tomlinson, Jeremy, Weintrob, Naomi, Cools, Martine, Ahmed, S. Faisal, Lucas-Herald, Angela K., Bryce, Jillian, Kyriakou, Andreas, Ljubicic, Marie Lindhardt, Arlt, Wiebke, Audi, Laura, Balsamo, Antonio, Baronio, Federico, Bertelloni, Silvano, Bettendorf, Markus, Brooke, Antonia, Van Der Grinten, Hedi L.Claahsen, Davies, Justin H., Hermann, Gloria, De Vries, Liat, Hughes, Ieuan A., Tadokoro-Cuccaro, Rieko, Darendeliler, Feyza, Poyrazoglu, Sukran, Ellaithi, Mona, Evliyaoglu, Olcay, Fica, Simone, Nedelea, Lavinia, Gawlik, Aneta, Globa, Evgenia, Zelinska, Nataliya, Guran, Tulay, Güven, Ayla, Hannema, Sabine E., Hiort, Olaf, Holterhus, Paul Martin, Iotova, Violeta, Mladenov, Vilhelm, Jain, Vandana, Sharma, Rajni, Jennane, Farida, Johnston, Colin, Guerra, Gil, Konrad, Daniel, Gaisl, Odile, Krone, Nils, Krone, Ruth, Lachlan, Katherine, Li, Dejun, Lichiardopol, Corina, Lisa, Lidka, Markosyan, Renata, Mazen, Inas, Mohnike, Klaus, Niedziela, Marek, Nordenstrom, Anna, Rey, Rodolfo, Skaeil, Mars, Tack, Lloyd J.W., Tomlinson, Jeremy, Weintrob, Naomi, Cools, Martine, and Ahmed, S. Faisal
- Abstract
Objectives: To determine trends in clinical practice for individuals with D SD requiring gonadectomy. Design: Retrospective cohort study. Methods: Information regarding age at gonadectomy according to diagnosis ; reported sex; time of presentation to specialist centre; and location of centre from cases reported t o the International DSD Registry and who were over 16 years old in January 2019. Results: Data regarding gonadectomy were available in 668 (88%) individu als from 44 centres. Of these, 248 (37%) (median age (range) 24 (17, 75) years) were male and 420 (63%) (median age (range) 26 (16, 86) years) were female. Gonadectomy was reported from 36 centres in 351/668 cas es (53%). Females were more likely to undergo gonadectomy (n = 311, P < 0.0001). The indication for gonadectomy was reported in 268 (7 6%). The most common indication was mitigation of tumour risk in 172 (64%). Variatio ns in the practice of gonadectomy were observed; of the 351 cases from 36 centres, 17 (5%) at 9 centres had undergo ne gonadectomy before their first presentation to the specialist centre. Median age at gonadectomy of cases from high -income countries and low-/middle-income countries (LMIC) was 13.0 years (0.1, 68) years and 16.5 years (1, 28), r espectively (P < 0.0001) with the likelihood of long-term retention of gonads being higher in LMIC countries. Conclusions: The likelihood of gonadectomy depends on the underlying diagnos is, sex of rearing and the geographical setting. Clinical benchmarks, which can be studied across all f orms of DSD will allow a better understanding of the variation in the practice of gonadectomy.
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- 2021
8. Cinismo organizacional y compromiso organizacional en los trabajadores de la facultad de Ciencias de la Salud de la Universidad Peruana Unión, Lima, 2019
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Guerra Gil, Andrea Esther and Turpo Chaparro, Josué Edison
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purl.org/pe-repo/ocde/ford#5.00.00 [http] ,Cinismo organizacional ,Compromiso organizacional ,Trabajadores ,Líderes - Abstract
El objeto del estudio fue determinar si existe relación entre cinismo organizacional y compromiso organizacional. Para ello, en primer lugar, se comparó el cinismo organizacional con el compromiso organizacional y, luego, el cinismo organizacional con cada una de las dimensiones del compromiso organizacional. La presente investigación es de naturaleza correlacional, de tipo básico con enfoque cuantitativo. La muestra consistió en 82 trabajadores de la Facultad de Ciencias de la Salud (FCS). Para esta investigación se utilizó como instrumentos el Cuestionario Compromiso con la Organización (Meyer & Allen, 1991) y el Cuestionario Cinismo Organizacional (Salessi & Omar, 2014). Los resultados que se encontraron en el grupo de estudio, mediante el análisis del coeficiente de correlación de Rho Spearman, fueron que sí existe una correlación inversa baja entre el cinismo organizacional y el compromiso organizacional; lo que significa que los trabajadores tienen menor cinismo organizacional y mayor nivel de compromiso organizacional. LIMA Escuela de Posgrado Teorías, métodos, organización y planificación de la educación
- Published
- 2020
9. Modelado de ciclos energéticos utilizando sus características físicas
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Bracho León, Gabriela Cristina, Universitat Politècnica de València. Departamento de Máquinas y Motores Térmicos - Departament de Màquines i Motors Tèrmics, Universitat Politècnica de València. Escuela Técnica Superior de Ingenieros Industriales - Escola Tècnica Superior d'Enginyers Industrials, Guerra Gil, Irene, Bracho León, Gabriela Cristina, Universitat Politècnica de València. Departamento de Máquinas y Motores Térmicos - Departament de Màquines i Motors Tèrmics, Universitat Politècnica de València. Escuela Técnica Superior de Ingenieros Industriales - Escola Tècnica Superior d'Enginyers Industrials, and Guerra Gil, Irene
- Abstract
[ES] En este trabajo de fin de grado diferentes modelos de los ciclos de energía serán evaluados. Los sistemas de cogeneración y los ciclos energéticos son muy importantes hoy en día debido a la gran influencia que tienen con las fuentes de energía no renovables, las cuales se están agotando. Nuestra sociedad necesita optimizar estas fuentes de energía para sacar lo máximo de ellas y mejorar así los ciclos energéticos. El principal objetivo de este trabajo es crear y usar las herramientas de Python (específicamente la herramienta Pyomo) para diseñar un modelo que se adapte mejor a las características físicas de estos ciclos. Para crear este modelo modificaremos el modelo ya existente (modelo lineal) y lo convertiremos en un modelo no linear. Para conseguir este objetivo los diferentes componentes de los ciclos energéticos serán primero examinados individualmente y un modelo será creado para cada cual. Finalmente, los modelos individuales serán combinados en uno solo para conseguir un modelo único y general de todo el ciclo energético., [EN] In this Semester Thesis different models of energy hubs will be researched and compared. Energy hubs are currently one of the most important systems in our society. With the increasing concern of energy resources running out and the climate change at its peak, our society needs energy efficiency and optimization of resources to be improved. The main objective of this project is to create, using the tools of Python (Pyomo Environment), a better model for energy hubs which take into account the physical relationships between elements and the different characteristics. To create this model we will modify the linear model that is currently being used. To achieve this objective the different components of an energy hub will be studied thoroughly (CHP, heat boiler and heat exchanger) and a model for each one will be achieved. Finally, the individual models will be joined into a single model which will give us important information about a multienergy carrier system.
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- 2020
10. Clinical and Molecular Analysis ofTAC3andTACR3Genes in Brazilian Patients with Isolated Hypogonadotropic Hypogonadism
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Tusset, Cintia, primary, Trarbach, Ericka, additional, Silveira, Leticia Gontijo, additional, Mendonca, Berenice Bilharinho, additional, Castro, Margaret, additional, Guerra, Gil, additional, Lofrano, Adriana, additional, and Latronico, Ana Claudia, additional
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- 2011
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11. Partial remission in Brazilian children and adolescents with type 1 diabetes. Association with a haplotype of class II human leukocyte antigen and synthesis of autoantibodies
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Camilo, Daniela S., primary, Pradella, Fernando, additional, Paulino, Maria Fernanda, additional, Baracat, Emilio C. E., additional, Marini, Sofia H., additional, Guerra, Gil, additional, Pavin, Elizabeth J., additional, Parisi, Candida, additional, Longhini, Ana Leda F., additional, Marques, Silvia B., additional, Guariento, Edilaine G., additional, Lieber, Sofia R., additional, Macedo, Carlos Fernando, additional, Gama e Silva, Letícia, additional, Farias, Alessandro S., additional, Santos, Leonilda M. B., additional, and Volpini, Walkyria M. G., additional
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- 2020
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12. Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1
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Trarbach, Ericka Barbosa, Teles, Milena Gurgel, Costa, Elaine Maria Frade, Abreu, Ana Paula, Garmes, Heraldo Mendes, Guerra, Gil, Junior, Baptista, Maria Tereza Matias, de Castro, Margaret, Mendonca, Berenice Bilharinho, and Latronico, Ana Claudia
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- 2010
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13. Modelado de ciclos energéticos utilizando sus características físicas
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Guerra Gil, Irene
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CHP Energy hubs Optimization Modelling Boiler Heat pump Heat Exchanger ,Co-generación Ciclos de energía Optimización Modelado Caldera Bomba Intercambiador de energía ,MAQUINAS Y MOTORES TERMICOS ,Grado en Ingeniería en Tecnologías Industriales-Grau en Enginyeria en Tecnologies Industrials - Abstract
[ES] En este trabajo de fin de grado diferentes modelos de los ciclos de energía serán evaluados. Los sistemas de cogeneración y los ciclos energéticos son muy importantes hoy en día debido a la gran influencia que tienen con las fuentes de energía no renovables, las cuales se están agotando. Nuestra sociedad necesita optimizar estas fuentes de energía para sacar lo máximo de ellas y mejorar así los ciclos energéticos. El principal objetivo de este trabajo es crear y usar las herramientas de Python (específicamente la herramienta Pyomo) para diseñar un modelo que se adapte mejor a las características físicas de estos ciclos. Para crear este modelo modificaremos el modelo ya existente (modelo lineal) y lo convertiremos en un modelo no linear. Para conseguir este objetivo los diferentes componentes de los ciclos energéticos serán primero examinados individualmente y un modelo será creado para cada cual. Finalmente, los modelos individuales serán combinados en uno solo para conseguir un modelo único y general de todo el ciclo energético., [EN] In this Semester Thesis different models of energy hubs will be researched and compared. Energy hubs are currently one of the most important systems in our society. With the increasing concern of energy resources running out and the climate change at its peak, our society needs energy efficiency and optimization of resources to be improved. The main objective of this project is to create, using the tools of Python (Pyomo Environment), a better model for energy hubs which take into account the physical relationships between elements and the different characteristics. To create this model we will modify the linear model that is currently being used. To achieve this objective the different components of an energy hub will be studied thoroughly (CHP, heat boiler and heat exchanger) and a model for each one will be achieved. Finally, the individual models will be joined into a single model which will give us important information about a multienergy carrier system.
- Published
- 2019
14. H28+C Insertion in the CYP21 Gene: A Novel Frameshift Mutation in a Brazilian Patient with the Classical Form of 21-Hydroxylase Deficiency
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Lau, Ivy F., Soardi, Fernanda C., Lemos-Marini, Sofia H. V., Guerra, Gil, Jr., Baptista, Maria Tereza M., and De Mello, Maricilda P.
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- 2001
15. Gonadotropin-Independent Precocious Puberty Due to Luteinizing Hormone Receptor Mutations in Brazilian Boys: A Novel Constitutively Activating Mutation in the First Transmembrane Helix*
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Latronico, Ana Claudia, Shinozaki, Hiromitsu, Guerra, Gil, Jr, Pereira, Maria Adelaide A, Lemos Marini, Sofia Helena V, Baptista, Maria Tereza M, Arnhold, Ivo Jorge P, Fanelli, Francesca, Mendonca, Berenice B, and Segaloff, Deborah L
- Published
- 2000
16. Capacitación en Economía en el Municipio de San Nicolás, Provincia de Mayabeque, Cuba
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Marín Reyes, Reinaldo, Guerra Gil, Estela, and Vázquez Reyes, Marlene
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Economy ,Accounting and Finance ,training ,Economía ,Contabilidad y Finanzas ,capacitación - Abstract
In the period 2014-2016, in one of the three classrooms authorized to teach the Accounting and Finance course in the municipality of San Nicolás, province of Mayabeque, 88 students were enrolled, a situation that led the authors to socialize the impact of the apprehension of economic culture. The initial diagnosis showed that 92.0% of those enrolled had a poor economic culture. The group was composed of professors, students and public administration officials. The training included 9 modules. In the case of the students, the theory-practice bond was contributed, to promote a better understanding of the pre-professional practice and its usefulness in the training of the economics professional. The final diagnosis illustrated that 83.0% of those enrolled possessed an acceptable economic culture. It is concluded that the training was fruitful, to achieve changes in the modes of action of the students, which is demonstrated in the results achieved by them, both in the systematic participation in class and in the final exam. The aforementioned results must result in a better performance of their functions. En el período 2014-2016, en una de las tres aulas habilitadas para impartir el curso de Contabilidad y Finanzas en el municipio de San Nicolás, provincia de Mayabeque, se matricularon 88 estudiantes, situación que condujo a los autores a socializar el impacto de la aprehensión de la cultura económica. El diagnóstico inicial arrojó que el 92.0% de los matriculados poseía deficiente cultura económica. La composición del grupo estuvo integrada por profesores, estudiantes y funcionarios de la administración pública. La capacitación estuvo compuesta por 9 módulos. En el caso de los estudiantes, se contribuyó al vínculo teoría-práctica, para propiciar una mejor compresión de la práctica pre-profesional y su utilidad en la formación del profesional de las ciencias económicas. El diagnóstico final ilustró que el 83.0% de los matriculados poseía una aceptable cultura económica. Se concluye que la capacitación fue fructífera, al lograr cambios en los modos de actuación de los discentes, lo que se demuestra en los resultados alcanzados por ellos, tanto en la participación sistemática en clase como en el examen final. Lo anterior ha de redundar en un mejor desempeño de sus funciones.
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- 2018
17. Hallazgos postoperatorios de cirugía craneal. ¿Qué es normal y qué una complicación?
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Velasco, Pablo Santos, Guerra, Gil, Eulate, Teresa Álvarez De, Fernández, Jorge Galván, Gómez, Maria Esther, and González, Rebeca Sigüenza
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- 2018
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18. Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome
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Maciel-Guerra, Andréa Trevas, Guerra, Gil, Jr., Marini, Sofia Helena V. L., Baptista, Maria Tereza Matias, and Marques-de-Faria, Antonia Paula
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- 1997
19. Family-based association of HLA class II alleles and haplotypes with type I diabetes in Brazilians reveals some characteristics of a highly diversified population
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Volpini, Walkyria M.G, Testa, Giuliana V, Marques, Sı́lvia B.D, Alves, Lais I, Silva, Maria Elizabeth R, Dib, Sérgio A, Guerra, Gil, Jr, Paulino, Maria Fernanda V.M, Marini, Sofia H.V.L, Persoli, Lı́gia B.L, and Caillat-Zucman, Sophie
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- 2001
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20. PERFORACIÓN INTESTINAL POR INGESTA DE CUERPO EXTRAÑO: HALLAZGOS ASOCIADOS EN TC
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Velasco, Pablo Santos, Belén, Ana, Guerra, Gil, Fernández, Jorge Galván, Antonia, María, Udaondo Cascante, García, Teresa Álvarez De Eulate, González, Rebeca Sigüenza, Dra Milagros, and Otero García
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- 2017
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21. '¿QUÉ Se Necesita Para Comprender Un Texto? Un Estudio De Las Diferencias Individuales En El Uso De Información Lingüística Y No-Lingüística Durante Comprensión De Lenguaje En Tiempo Real'
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Guerra-Gil, Ernesto and Pontificia Universidad Católica de Chile
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Educación ,Estructuras y Relaciones Sociales ,Ciencias Sociales ,Pedagogía y Educación ,Educación Formación, Perfeccionamiento y Reciclaje - Abstract
POSTDOCTORADO Finalizado FONDECYT-POSTDOCTORADO FONDECYT FONDECYT
- Published
- 2017
22. Erratum: Global disorders of sex development update since 2006: perceptions, approach and care (Hormone Research in Paediatrics (2016) 85 (158-180) DOI: 10.1159/000442975)
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Lee, Peter A., Nordenström, Anna, Houk, Christopher P., Ahmed, S. Faisal, Auchus, Richard, Baratz, Arlene, Dalke, Katharine Baratz, Liao, Lih-Mei, Lin-Su, Karen, Looijenga, Leendert H. J., Mazur, Tom, Meyer-Bahlburg, Heino F. L., Mouriquand, Pierre, Quigley, Charmian A., Sandberg, David E., Vilain, Eric, Witchel, Selma, Ansermet, Francois, Baker, Linda, Belgorovsky, Alicia V., Baskin, Larry, Berenbaum, Sheri A., Bouvattier, Claire, Braga, Luis, Caldamone, Anthony, Callens, Nina, Charmandari, Evangelia, Chigiti, John M., Cohen-Kettenis, Peggy T., Conte, Felix, Cools, Martine, Conway, Gerard S., Davis, Georgiann, Delimata, Natalie, Drop, Stenvert L. S., Duranteau, Lise, Ediati, Annastasia, Fluck, Christa, Garland, Jameson, Gay, Claire-Lise, el Ghoneimi, Alaa, Gillam, Lynn, Gorduza, Daniela, di Grazia, Massimo, Green, Janet, Guerra, Gil, Hensle, Terry, Hines, Melissa, Hoebeke, Piet, Horikawa, Reiko, Kaefer, Martin, Kaggwa, Julius Kaganzi, Karkazis, Katrina, Kolon, Tom, Kalfa, Nicolas, Lee, Mary M., Lesma, Arianna, Loke, Kah Yin, Manzoni, Gianantonio, Marrocco, Giacinto, Merlini, Emilio, Moore, Jim, Muscarella, Miriam B., Nordenskjold, Agneta, Salle, Joao L. Pippi, Poppas, Dix Phillip, Ransley, Philip, Roen, Katrina, Rivarola, Marco, Rey, Rodolfo, Rigamonti, Waifro, Rink, Richard, Romao, Rodrigo, Rossi, Wilma, Sann, Leon, Schober, Justine M., Sibai, Hisham, Smith, Arlene, Srinivasan, Shubha, Sudai, Maayan, Sultan, Sajid, Vogiatzi, Maria, Walker, Jan, Warne, Gary, Wiesemann, Claudia, Wisniewski, Amy, and Zieselman, Kimberly
- Abstract
In the appendix of the recent publication by Lee et al. entitled 'Global disorders of sex development update since 2006: perceptions, approach and care' [Horm Res Paediatr 2016;85:158–180, DOI: 10.1159/000442975], Massimo Di Grazia, Psychologist, is incorrectly mentioned to be from Cosenga, Italy. The correct city is Trieste, Italy.
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- 2016
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23. Athletic performance and body composition in cadets of the Brazilian Army
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Pascoa, Mauro, primary, Cirolini, Vagner, additional, Melloni, Mauro, additional, Guerra, Gil, additional, and Gonçalves, Ezequiel, additional
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- 2017
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24. Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia
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Liberatore, Raphael Del Roio, Ramos, Priscila Manzini, Guerra, Gil, Della Manna, Thais, Silva, Ivani Novato [UNIFESP], Martinelli Junior, Carlos Eduardo, Universidade de São Paulo (USP), Universidade Federal de São Paulo (UNIFESP), and Universidade Federal de Minas Gerais (UFMG)
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Congenital ,Neonatal ,Hypoglycemia - Abstract
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Objective: To study the clinical and molecular characteristics of a sample of Brazilian patients with Congenital Hyperinsulinemic Hypoglycemia (CHH).Methods: Electronic message was sent to members from Endocrinology Department-Brazilian Society of Pediatrics requesting clinical data for all cases of CHH. A whole blood sample from living patients was requested for DNA extraction followed by a search for mutations of the genes ABCC8, KCNJ11, GCK, GLUD1, HADH, SLC16A1 and HNF4A.Results: of the 61 patients evaluated, 36 (59%) were boys, and only 16 (26%) were born by normal delivery. Gestational age ranged from 32 to 41 weeks (mean = 37 weeks and 6 days). Birth weight ranged from 1590 to 5250 g (mean = 3430 g). Macrossomia occurred in 14 cases (28%). Age at diagnosis ranged from 1 to 1080 days (mean = 75 days). DNA for molecular analysis was obtained from 53 of the 61 patients. Molecular changes in the ABCC8 gene were detected in 15 (28%) of these 53 cases, and mutations in the KCNJ11 gene were detected in 6 (11%). Mutations in the GLUD1 gene were detected in 9 cases (17%) of the total series. Mutations of the GCK gene in heterozygosis were detected in 3 cases. No mutations were detected in the sequencing of genes HADH, SLC16A1 and HNF4A.Conclusion: the present study conducted in Brazil permitted the collaborative compilation of an important number of CHH cases and showed that the present clinical and molecular data are similar to those of published global series. Univ São Paulo, Ribeirao Preto Med Sch, BR-14049 Ribeirao Preto, SP, Brazil State Univ Campinas UNICAMP, Dept Pediat, Sch Med Sci, Campinas, SP, Brazil Univ São Paulo, Hosp Clin, Inst Crianca, Pediat Endocrine Unit, São Paulo, SP, Brazil Univ Fed Minas Gerais, Dept Pediat, Med Sch, Hosp Clin, Belo Horizonte, MG, Brazil UNIFESP, EPM, São Paulo FAPESP: 2011/09355-0 Web of Science
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- 2015
25. Determinantes do produto bancário antes e após crise: estudo de caso de uma agência bancária
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Guerra, Gil Eduardo Fontes Linhas, Arriaga, Carlos, and Universidade do Minho
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Ratios ,Spread ,Ciências Sociais::Economia e Gestão ,Produto bancário ,Credits ,Taxa Euribor ,Euribor rate ,Crédito ,336.711(469.112) ,Gross income ,Depósitos ,Margem financeira ,Rácios ,Deposits ,Economia e Gestão [Ciências Sociais] ,Financial margin - Abstract
Relatório de estágio de mestrado em Economia, As entidades bancárias têm procurado encontrar alternativas para aumentar a margem financeira que tem sido negativa, afetando o produto bancário que é uma das principais medidas de performance bancária. O objetivo do relatório é comparar os determinantes que influenciam o produto bancário da AGÊNCIA da CGD de Santa Tecla em Braga com os dados nacionais da CGD, no período de 2008 a 2012. Para alcançar este objetivo foram escolhidos e recolhidos dados de determinantes internos (margem financeira, margem complementar, resultados antes de impostos e custos com o pessoal) e externos (taxa de inflação, a taxa de crescimento do PIB e a taxa Euribor) que foram analisados no software estatístico SPSS. Os resultados mostram que, na análise comparativa dos determinantes referidos, ao nível da AGÊNCIA e da CGD, nos períodos 2008-2009 e 2010-2012, não existem diferenças significativas entre os dois períodos, com exceção para a CGD nos indicadores margem financeira e custos com o pessoal. No que concerne a análise comparativa entre a AGÊNCIA e a CGD no período 2008-2012, observa-se que a maioria dos determinantes internos são estatisticamente diferentes (nomeadamente a margem financeira, margem complementar e os custos com o pessoal). Dada a importância da margem financeira na performance do produto bancário, conclui-se que existe uma diferença entre a margem financeira da CGD entre os períodos 2008-2009 e 2010-2012 que é possivelmente explicada pela alteração do spread nos dois períodos em estudo e não pela variação dos juros pagos nos depósitos, nos juros recebidos dos créditos e a variação da taxa Euribor a 12 meses., Commercial banks are looking for alternative ways to raise the financial margin, which has been negative, affecting the gross income (“Produto Bancário”), one of the major measures of banks performance. The aim of this report is to compare the internal and external determinants that influence the gross income of CGD´s AGENCY of Santa Tecla in Braga with the national results of CGD, in the period between 2008 and 2012. To accomplish our goal we selected and collected date of internal (financial margin, complementary margin, earnings before taxes and personal costs) and external (inflation rate, DGP growth rate and Euribor rate) gross income`s determinants, which was analyzed using the statistical software SPSS. Our results show, that in a comparative analysis of the indicated determinants at the AGENCY and CGD in the periods 2008-2009 and 2010-2012, there was no significant differences between the two periods with the exception, for the CGD, in the indicators of financial margins and personal costs. Concerning the comparative analysis between the AGENCY and the CGD in the period 2008-2012, our results show that the majority of the internal determinants are statistically different (namely financial margin, complementary margin and personal costs). Given the importance of the financial margin in bank performance, we conclude that there is a significant difference in the financial margin between the periods 2008- 2009 and 2010-2012. This is possibly explained by the observed variation in CGD’s spread for the two referred periods, and not variations in interest rates on deposits and loans or by variations in the Euribor rate.
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- 2014
26. Insulin secretion pattern in patients with congenital adrenal hyperplasia during the hyperglycemic clamp compared with a control group
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de Oliveira, Daniel Minutti, primary, Gonçalves, Ezequiel Moura, additional, de Pieri, Renata Isa Santoro, additional, Camilo, Daniella Fernandes, additional, Vasques, Ana Carolina, additional, Marini, Sofia Helena Lemos, additional, Guerra, Gil, additional, and Neto, Bruno Geloneze, additional
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- 2015
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27. Phenotype of regulatory T cells in human type 1 diabetes at diagnosis and partial remission phase
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da Silva Camilo, Daniela, primary, Moraes, Adriel Santos, additional, Pradella, Fernando, additional, Russini, Paula Giovana, additional, Lima, Alliny Carolina Dionete, additional, Longhini, Ana Leda, additional, Paulino, Maria Fernanda Vanti Macedo, additional, de Lemos Marini, Sofia Helena Valente, additional, Guerra, Gil, additional, Pavin, Elizabeth João, additional, Parisi, Candida, additional, dos Santos Farias, Alessandro, additional, dos Santos, Leonilda Maria Barbosa, additional, and Volpini, Walkyria Mara Gonçalves, additional
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- 2015
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28. Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia
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Del Roio Liberatore, Raphael, primary, Ramos, Priscila Manzini, additional, Guerra, Gil, additional, Manna, Thais Della, additional, Silva, Ivani Novato, additional, and Martinelli, Carlos Eduardo, additional
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- 2015
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29. Symptom Research in Pediatric Oncology: Methodological Challenges and Working Solutions (741)
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Zhukovsky, Donna, primary, Cohen, Marlene, additional, Rozmus, Cathy, additional, Palmer, Lynn J., additional, Robert, Rhonda, additional, Wells, Robert J., additional, Guerra, Gil, additional, Kilgore, Kelly, additional, Allo, Julio, additional, Apraku, Winnie, additional, and Bruera, Eduarto, additional
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- 2012
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30. Severe hypertriglyceridemia is related to episodes of epididymitis
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Takata, Racquel Tiemi, primary, Schreiber, Roberto, additional, Guerra, Gil, additional, and de Faria, Eliana C., additional
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- 2009
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31. Labioscrotal island flap in feminizing genitoplasty
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Miranda, Márcio Lopes, primary, de Oliveira-Filho, Antônio Gonçalves, additional, Lemos-Marini, Sofia Helena V, additional, Guerra, Gil, additional, and Murray Bustorff-Silva, Joaquim, additional
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- 2004
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32. True agonadism: Report of a case analyzed with Y-specific DNA probes
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Maciel-Guerra, Andréa T., primary, Farah, Solange B., additional, Garmes, Heraldo M., additional, Pinto, Walter, additional, Da Silva, Joaquim M. Bustorff, additional, Baptista, Maria Teresa, additional, Marques-de-Faria, Antonia Paula, additional, Guerra, Gil, additional, and De Mello, Maricilda P., additional
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- 1991
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33. El Hospital de San Hermenegildo en la historia. La reducción hospitalaria
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Guerra Gil, Antonio, Martínez Pérez, Felipe, Zaragoza Rubira, Juan Ramón, and Universidad de Sevilla. Departamento de Psiquiatría
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El contenido de esta Tesis Doctoral se fundamenta en dos hechos que a mi juicio han sido básicos en el nacimiento y posterior desarrrollo de la Medicina Hospitalaria en Sevilla. Uno de estos dos hechos históricos es la reducción y reforma de los setenta y dos hospitales existentes en Sevilla en el Siglo XVI; y el otro la fundación del Hospital de San Hermenegildo, conocido popularmente por el Hospital del Cardenal, cuya estructura y funcionamiento fue la base inicial para la modernización de la medicina hospitalaria sevillana en sus aspectos médico y quirúrgico. La razón de por qué estos dos acontecimientos se estudian juntos en esta Tesis, no es una razón de mera cronología histórica, por el hecho de que tanto uno como otro acontecimiento se desarrollen, con poca diferencia de años, en la misma época. La principal razón del estudio en conjunto es porque los dos hechos responden a características muy similares con relación a la sociedad en que tienen lugar. Pensamos que los hechos históricos carecen de importancia y son simples enumeraciones cronológicas de una narración, si no se les enmarca en la sociedad en que suceden, si no se profundiza en el por qué u para qué de su acontecer. En una palabra, la historia no tiene sentido si no se conoce bien la sociedad que la protagoniza. Y siendo la medicina y la sociedad dos entidades tan estrechamente unidas, se impone, por razones metodológicas y de sentido común, el estudio conjuntamente de las dos, sobre todo en esta época que estudiamos (Siglos XV y XVI) en la que se ponen los cimientos de la medicina en casi todo el mundo, y con características muy especiales, como veremos más adelante, en Sevilla, donde parece que las cosas no suceden como son, si no como las dejan ser. En el Siglo XV existen en el Arzobispado de Sevilla –Forma con que se conoce en esta época el término de Provincia, ya que ésta aún no existe en el nomenclátor Geográfico- más de doscientos hospitales, de los cuales setenta y dos corresponden a la Capital. Cualquiera que se enfrente a estas cifras puede creer, de entrada, que el nivel sanitario debía ser ejemplar, dado el número de establecimientos de este orden. Pero nada más lejos de la realidad. En primer lugar porque el término Hospital, tal como se usa en este tiempo, no respondía a lo que hoy entendemos como Hospital, sino que significaba más bien un asilo donde se recogía a los ancianos, una posada para el transeúnte desvalido, o, a lo más, lugares para ayudar a bien morir a las personas que eran víctimas de las numerosas epidemias. En segundo lugar, podemos decir que la cantidad de Hospitales no es el reflejo de la calidad de sus atenciones, porque cuando estas instituciones ya empezaron a orientarse a la curación fueron promovidos, casi en su totalidad, por las cofradías o las familias de prestigio. Tanto unas como otras rivalizaban en ser promotoras de instituciones benéficas, entre las cuales la sanidad siempre tuvo el primer rango. No se olvide que en los albores de la Edad Media la Iglesia, ante la falta de recursos, instituyó de manera inteligente lo que se llamó la “Pietatis causa”, que consistía en la oferta de recompensas espirituales (Bulas, Indulgencias, Misas, Triduos y Quinarios) a cambio de donaciones materiales. Esto hizo que los hospitales se reprodujeran como esporas en razón de los intereses cofradieros y de prestigio social de la nobleza sevillana, más que por una razón puramente asistencial y de planificación sanitaria. Lógicamente, tal cantidad de hospitales, algunos de ellos sólo con siete o diez cama. Hacía ineficaz la asistencia, ya que en muchas ocasiones les faltaba los medios más elementales de curación y sus recursos escaseaban. Ante esta situación, el Arzobispo Don Diego Hurtado de Mendoza consideró que la mayoría de estos hospitales eran ineficaces y, algunas veces, más contribuían a la proliferación del mal que a su curación. Este Arzobispo fue el primero que intentó la reducción de estos Hospitales para, reuniendo los recursos de todos ellos, crear uno o dos establecimientos que fueran dignos de su nombre. Los esfuerzos del Arzobispo fueron inútiles, a pesar de contar con la aprobación y una Bula Pontificia favorable a esta reducción dictada por el Papa Inocencio VII. La firme oposición de las Cofradías y los Apellidos Ilustres de Sevilla, aunque unas y otros se confundían en una misma cosa, impidió permanentemente esta reducción hospitalaria –lo que hoy llamaríamos una “Reconversión” en favor del rendimiento y la eficacia-, en vista de que con esta reducción dejaban de ser protagonistas de la Caridad Ciudadana, con la consiguiente pérdida del prestigio social adquirido en el Ejercicio de Atención a los pobres, fuera como fuera, con la justificación de “Pro Redemptione et remedio animae, pro remissione peccatorum” (“Para la redención y salvación del alma, para perdón de los pecados”). Después de muchos esfuerzos, el Arzobispo Hurtado de Mendoza murió y la reducción no se pudo hacer. Pasaron los años y la situación sanitaria de Sevilla continuaba tan caótica. Dicen los cronistas de la época que en muchos de estos hospitales los gastos en sueldos del personal –casi siempre parientes o conocidos de las familias patrocinadoras o del preboste cofradiero de turno- eran superiores a los gastos producidos en la alimentación y cuidados del exiguo número de enfermos que se atendía. Así estaban las cosas cuando toma posesión de la Sede Apostólica de la Capital Andaluza, el 15 de Febrero de 1582, el Arzobispo Don Rodrigo de Castro, hijo de los Condes de Lemos, castellano, con estudios en Salamanca y amigo, entre los pocos que tuvo el Monarca, de Felipe II, con quién había estado en Flandes, y a quién acompañó, entre las escogidas personas invitadas por el Rey, en la ceremonia de su boda con María Tudor celebrada en Londres. Es decir, el nuevo Arzobispo tenía todos los ingredientes para poder acometer la tan deseada reducción, pues siendo hombre de Castilla, con Blasones por encima de muchos Nobles Sevillanos y con hilo directo con Felipe II, tenía en sus manos la posibilidad de vencer el cerco de esta intransigencia. Y así fue. El Arzobispo Rodrigo de Castro no comprendió desde el primer momento de su llegada a la ciudad Andaluza el Nepotismo de los grandes, el favoritismo reinante entre los representantes de la Corte y la relajación de las costumbres. Y todo ante una Iglesia amedrentada por la prepotencia de la nobleza sevillana. Rodrigo de Castro abordó la reducción hospitalaria con toda contundencia y no pocas vicisitudes. Tuvo que recurrir, en vista de la oposición cerrada de las cofradías y familias importantes, a la intervención directa de Felipe II, quien en varias ocasiones se dirigió reiteradamente a las fuerzas vivas sevillanas para, con “apremiantes ordenes”, recordarle el mandato de reducción, hasta que el 31 de Octubre de 1586 les emplaza de una manera definitiva por orden real. Por fin, el Arzobispo Rodrigo de Castro pudo llevar a cabo la reducción el 4 de Marzo de 1587. Los setenta y dos hospitales existentes en Sevilla quedaron reducidos a dos: El Hospital del Amor de Dios y el de Espíritu Santo. Sólo se excluyeron de esta reducción los llamados Hospitales Mayores, entre los que se encontraba el de San Hermenegildo, del que trataremos ampliamente a continuación. El resultado de esta firme decisión por parte de Rodrigo de Castro fue una campaña difamatoria contra el Arzobispo desplegada por Clérigos, beneficiados y nobles sevillanos, que le acusaron de excesiva ostentación de su cargo y de sus cuantiosas riquezas. En muchas ocasiones, estas difamaciones se hacían públicamente por quienes le superaban en bienes y en ostentación. EL HOSPITAL DE SAN HERMENEGILDO La otra parte que abarca el trabajo de investigación de esta Tesis es la Fundación del Hospital de San Hermenegildo, su funcionamiento, el estudio de sus Constituciones y la personalidad de su fundador. Este Hospital es de los pocos que escapan a la reducción que llevó a cabo el Arzobispo Rodrigo de Castro, por ser considerado entre los Hospitales mayores y en buen rendimiento sanitario. Sorprende, cuando se profundiza en la investigación sobre este Hospital, que no se haya llevado a cabo hasta ahora un estudio pormenorizado de esta institución, ya que representa, por su modernidad y funcionalismo, el establecimiento sanitario con el que se inicia una nueva etapa de progreso y eficacia en la medicina sevillana. Pero si ahondamos en las fuentes que dieron origen a la creación de este Hospital, tal vez podremos encontrar la causa de este silencio o, por lo menos, el origen de esta despreocupación. La realidad es que el fundador del Hospital de San Hermenegildo, el Cardenal Don Juan de Cervantes, al igual que Rodrigo de Castro, tampoco es un hombre típicamente sevillano. Su talante es Europeo, con no pocos años de experiencia en la Curia Romana y una visión universalista de los problemas de acuerdo con su gran formación humanística. Parece, aunque las fuentes no lo confirman con exactitud, que nació en una Aldea cercana a Tuy (Vigo), pero pasó muchos años en Castila, a la cabeza de las Sedes de Segovia y Ávila. También el Cardenal Don Juan de Cervantes tuvo problemas en Sevilla, ya que después de ser nombrado por Roma para la Sede Vacante de esta Ciudad, fue rechazado por la Nobleza Sevillana, personificada en el Válido del Rey Juan II, Don Álvaro de Luna, quién forzó al Cabildo a rechazar el nombramiento del Cardenal Cervantes, para poner en su puesto a su sobrino Don Rodrigo de Luna. Más tarde, también por la influencia del Monarca, le fue otorgada a Don Rodrigo la Sede de Santiago de Compostela, que convenía más a sus intereses, y el Cardenal Cervantes, después de la humillación, tomó posesión de la Sede de Sevilla con toda humildad. Los cronistas de la época, a pesar de estar curados de espanto contra semejantes arbitrariedades de la curia y la nobleza, cuentan con detalles lo que este escándalo supuso para desprestigio de una y otra. La fundación del Hospital de San Hermenegildo, conocido popularmente como el Hospital del Cardenal, supuso, como ya hemos señalado, un giro verdaderamente copernicano en la Historia de la Medicina Sevillana. El estudio de sus Constituciones y el del propio testamento del Cardenal, donde se sientan las bases de la Fundación y de las citadas constituciones. Es lo suficientemente explícito para comprender el alcance que tuvo esta institución hospitalaria. Estas constituciones no se limitan a un simple acto de fundación, como a la sazón era costumbre, sino que en ellas están previstas minuciosamente las funciones del administrador, del cirujano, del mayordomo, del cura, del Sacristán, etc., así como todo lo concerniente a la Enfermería y al Tratamiento de los Enfermos. Un Capítulo importante de estas constituciones es el relativo a la Hacienda, donde se articula todo un sistema económico y administrativo verdaderamente ejemplar para su época. Este sistema tiene previsto una serie de inversiones, rentas y explotaciones ajenas al hospital, que van a constituir los recursos más importantes para la desahogada financiación de esta institución, lo cual era una excepción en aquel tiempo, dada la penuria económica de los establecimientos asistenciales. Si de ejemplar se puede calificar la planificación económica y la organización de rendimiento profesional, no lo es menos el capítulo dedicado a los órganos rectores del Hospital. Conscientes del tiempo que vivían, los redactores de estas ordenanzas proveyeron, con toda riqueza de detalles, la contratación del personal, el sistema de compras, el ingreso de enfermos, y un etcétera que nos llevaría a comprender, en vista de la naturaleza de lo que se prohíbe, el grado de picaresca a que se había llegado dentro y fuera de la Iglesia. Por poner algunos ejemplos, cogidos al azar entre los muchos casos previstos en estas Constituciones, no es pura coincidencia que se prohíba expresamente al administrador alojar a familias o personas no enfermas en las dependencias del Hospital; o el hecho de que se concrete cómo las compras han de hacerse al por mayor, para que resulte más barato, y con las consiguientes notas de justificación del gasto. También es muy significativo que en uno de los apartados concernientes a la contratación del personal se especifique que ningún pariente del administrador debe ocupar un puesto, cualquiera que sea su dedicación, dentro del hospital. Todo el contenido de las Constituciones de este Hospital, tanto por lo que prohíbe como por lo que promociona, es un exponente no sólo de la perdurabilidad de la institución a través de siglos, sino también de lo que era la sociedad de aquel tiempo. Uno de los aspectos de mayor interés en el Hospital de San Hermenegildo es que con su fundación se deslinda algo muy importante en la Medicina Sevillana: Por primera vez se establece la diferencia entre la asistencia médica al enfermo y el ejercicio de la caridad o de la interesada limosna. Por primera vez no se quiere hacer depender al enfermo de la limosna del poderoso, con todo lo que este ejercicio de la caridad suponía de irregularidad, ya que la limosna dependía de la economía y ganancias de los que ejercían de limosneros. Por ello en las Constituciones de este Hospital se establece un sistema de Rentas y una doble contabilidad que abarca dos aspectos importantes de la administración hospitalaria, como son: a) La contabilidad que administra y dispone de los recursos para el funcionamiento de la institución, como alimentación, ropa, sueldos y gastos de mantenimiento. b) La Contabilidad cuyos recursos son exclusivamente invertidos en la explotación de fincas, tahonas, arrendamientos de casas cedidas al Hospital, incluso préstamos, etc. Y cuyas ganancias e intereses son ingresos fijos que proporcionan la independencia económica del establecimiento. Por esta lección de seriedad en una atmósfera sevillana en las que tantas cosas se dejaban a la improvisación, a la trampa del pícaro o al tejemaneje del poderoso, es por lo que he querido estudias estos dos aspectos, que son prácticamente uno mismo, de la Medicina Sevillana en los Siglos XV y XVI: La reducción hospitalaria y la fundación ejemplar, hasta ahora sin eco, del Hospital de San Hermenegildo, más conocido por el Hospital del Cardenal. CONCLUSIONES: 1. La Fundación del Hospital de San Hermenegildo en 1455, conocido Popularmente como el Hospital del Cardenal, supuso un giro copernicano para el progreso de la Medicina Sevillana en los Siglos XV y XVI. 2. Con el Hospital de San Hermenegildo se acaba el antiguo concepto que se tenía de la palabra Hospital, como sinónimo de lo que hoy son los asilos, para establecer lo que se puede considerar la primera institución sanitaria en la que se emplean métodos médicos y quirúrgicos. 3. Este Hospital de San Hermenegildo sirve de transición entre la Edad Media y el Renacimiento. Con todo lo que esto supuso para la medicina sucede una nueva concepción de la medicina con horizontes más amplios. 4. Con la Fundación del Hospital de San Hermenegildo la Medicina Hospitalaria deja der depender de las cofradías o del Patronazgo de las Familias Influyentes, para convertirse en una Institución más independiente de la Iglesia, y con una economía propia regida por un Consejo de Visitadores, Administradores o Patronos (que todos estos nombres tomaron en el curso de los años) que tomaban los acuerdos por mayoría. 5. El concepto del Hospital Gremial, regido por los sastres, los matarifes, los marineros, etc. desaparece, poco a poco, con la creación de establecimientos sanitarios regidos por las pautas marcadas por el Hospital de San Hermenegildo que supusieron instituciones dedicadas exclusivamente a la curación, más independientes y sin intereses gremiales, religiosos o políticos. 6. El Fundador del Hospital de San Hermenegildo, el Cardenal Cervantes, hombre profundamente Europeo, de una vasta formación humanística y con gran amplitud de miras, influye favorablemente en los aspectos de modernidad y progreso que este Hospital introduce en Sevilla. 7. Las Constituciones del Hospital de San Hermenegildo son un modelo a seguir en la Organización Hospitalaria. Muchos de sus títulos todavía poseen vigencia para ser aplicados a los establecimientos hospitalarios de nuestros días. 8. La Minuciosidad hasta los últimos detalles de funcionamiento de la Organización hospitalaria, así como el reglamento del personal y las ordenanzas de tipo Administrativo y Financiero contenidos en las Constituciones del Hospital de San Hermenegildo, acabaron con la improvisación reinante en los numerosos Hospitales Sevillanos, casi todos muy pocos eficaces en los Cometidos de Salud Pública que estas instituciones han de cumplir. 9. Lo Estricto de las Mencionadas Constituciones Fundacionales del Hospital de San Hermenegildo, acabaron con muchos nepotismos y favoritismos de la época. 10. La Reducción de los Setenta y dos Hospitales existentes en Sevilla (Capital) en el Siglo XVI, con idea de hacerlos más funcionales y eficaces, fue uno de los logros más difíciles de esta época. 11. Al interés Sanitario se oponían los intereses de prestigio y poder las cofradías y las familias Ilustres de Sevilla, que prácticamente eran la misma cosa, al menos en los estamentos de gobierno de las primeras. 12. El primero que intenta seriamente la reducción de los Hospitales es el Arzobispo Don Diego Hurtado de Mendoza. Pero a pesar que cuenta con la probación del Papa Inocencio VII, que le envía una Bula Pontificia en favor de la Reducción, sin embargo el Arzobispo muere sin haber conseguido la necesaria reducción, ya que la oposición de la nobleza y las cofradías es grande. 13. Con no pocos disgusto y tensiones, el Arzobispo Rodrigo de Castro consigue la reducción de los setenta y dos hospitales el 4 de Marzo de 1587. Para ello tuvo que recurrir a su amistad con el entonces Rey de España. Felipe II, quien tuvo que insistir con “apremiantes órdenes” para que la reducción se llevara a cabo. 14. Una vez efectuada la reducción, la totalidad de los recursos y posesiones de estos setenta y dos hospitales fueron empleados para la ampliación y buena dotación de dos grandes hospitales: El Hospital del Amor de Dios y el Hospital del Espíritu Santo. 15. En esta reducción no se incluyeron, en vista de su buen funcionamiento, los seis hospitales llamados Mayores, entre los que figuraba el Hospital de San Hermenegildo, más conocido por el Hospital del Cardenal, por haber sido creado por el Cardenal Don Juan de Cervantes.
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- 1985
34. El Hospital de San Hermenegildo en la historia. La reducción hospitalaria
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Martínez Pérez, Felipe, Zaragoza Rubira, Juan Ramón, Universidad de Sevilla. Departamento de Psiquiatría, Guerra Gil, Antonio, Martínez Pérez, Felipe, Zaragoza Rubira, Juan Ramón, Universidad de Sevilla. Departamento de Psiquiatría, and Guerra Gil, Antonio
- Abstract
El contenido de esta Tesis Doctoral se fundamenta en dos hechos que a mi juicio han sido básicos en el nacimiento y posterior desarrrollo de la Medicina Hospitalaria en Sevilla. Uno de estos dos hechos históricos es la reducción y reforma de los setenta y dos hospitales existentes en Sevilla en el Siglo XVI; y el otro la fundación del Hospital de San Hermenegildo, conocido popularmente por el Hospital del Cardenal, cuya estructura y funcionamiento fue la base inicial para la modernización de la medicina hospitalaria sevillana en sus aspectos médico y quirúrgico. La razón de por qué estos dos acontecimientos se estudian juntos en esta Tesis, no es una razón de mera cronología histórica, por el hecho de que tanto uno como otro acontecimiento se desarrollen, con poca diferencia de años, en la misma época. La principal razón del estudio en conjunto es porque los dos hechos responden a características muy similares con relación a la sociedad en que tienen lugar. Pensamos que los hechos históricos carecen de importancia y son simples enumeraciones cronológicas de una narración, si no se les enmarca en la sociedad en que suceden, si no se profundiza en el por qué u para qué de su acontecer. En una palabra, la historia no tiene sentido si no se conoce bien la sociedad que la protagoniza. Y siendo la medicina y la sociedad dos entidades tan estrechamente unidas, se impone, por razones metodológicas y de sentido común, el estudio conjuntamente de las dos, sobre todo en esta época que estudiamos (Siglos XV y XVI) en la que se ponen los cimientos de la medicina en casi todo el mundo, y con características muy especiales, como veremos más adelante, en Sevilla, donde parece que las cosas no suceden como son, si no como las dejan ser. En el Siglo XV existen en el Arzobispado de Sevilla –Forma con que se conoce en esta época el término de Provincia, ya que ésta aún no existe en el nomenclátor Geográfico- más de doscientos hospitales, de los cuales setenta y dos corresponden a la Ca
- Published
- 1985
35. Apparently Sporadic Central Precocious Puberty Is Caused By Paternally Inherited Mutations in the Imprinted MKRN3 Gene
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Abreu, Ana Paula, Macedo, Delanie B., Silva Reis, Ana Claudia, Montenegro, Luciana Ribeiro, Dauber, Andrew, Beneduzzi, Diane, Culier, Priscilla, Leticia Silveira, Teles, Milena Gurgel, Carroll, Rona S., Guerra, Gil, Guaragna Filho, Guilherme, Gucev, Zoran Spasico, Arnhold, Ivo J. P., Castro, Margaret, Moreira, Ayrton Custodio, Martinelli, Carlos Eduardo, Hirschhorn, Joel N., Mendonasa, Berenice Bilharinho, Brito, Vinicius N., Antonini, Sonir Roberto, Kaiser, Ursula B., and Latronico, Ana Claudia
36. Impact of microbial and chemical pollution in Cuban freshwater ecosystems: strategies for environmental recovery.
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Carballo, María E., Heydrich, Mayra, Rojas, Nidia, Salgado, Irina, Romeu, Beatriz, Manzano, Ana M., Larrea, Jeny, Domínguez, Osmel, Martínez, Armando, Sánchez, María I., Cruz, Mario, Guerra, Gil Da, Rojas, Marcia, and Ramos, Miguel
- Subjects
- *
WATER pollution , *MICROORGANISMS , *HEAVY metals & the environment , *POLLUTION , *BIOTIC communities , *ECOSYSTEM management ,ENVIRONMENTAL aspects - Abstract
Contamination of water resources requires of systematic environmental actions, based on integral researches which allow proposing biological process as ecological and economical alternatives in order to decrease its negative impact and to guarantee the integrity of aquatic ecosystems. The objectives of this paper were to determine the microbial and chemical water pollution in Almendares river, and to evaluate the microbial capacity for decrease or eliminate chemical contaminants present on waste waters, natural ecosystems and industrial wastes. The microbiological and chemical pollution of the Almendares basin exceeded maximum permissible values for recreational waters according to Cuban standards, respect to total and faecal coliforms, to the presence of clinical significance multi-resistant micro-organisms against antimicrobial agents, and to nitrates, ammonium, phosphates and heavy metals concentrations. It was demonstrated the potential of monocultures and microbial consortiums for the elimination of heavy metals and the capacity of White Rot Fungi to degrade industrial textil colorants. The results indicate the contamination degree in freshwater systems in Cuba, a threat for biodiversity and a risk for human health. Therefore, these results permit to dispose of a microbial collection which represents potential candidates for biotechnological applications, which contribute to the protection of the environment and the preservation of waters as a valuable natural resource. [ABSTRACT FROM AUTHOR]
- Published
- 2011
37. Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center.
- Author
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Lopes CP, Gonçalves GF, Paulino MFVM, Esquiaveto-Aun AM, de Mello MP, Pavin EJ, Breder ISS, Pu MZMH, de Lemos-Marini SHV, and Guerra G
- Subjects
- Humans, Male, Female, Retrospective Studies, Brazil, Child, Preschool, Child, Adolescent, Membrane Proteins genetics, Cohort Studies, Infant, Mutation, Young Adult, Age of Onset, Adult, Wolfram Syndrome genetics, Wolfram Syndrome diagnosis
- Abstract
Objective: Considering the rarity and clinical and molecular diversity of Wolfram syndrome (WS), the objective of this study was to identify patients with a clinical presentation suggestive of WS following up at a single Brazilian diabetes service and analyze their clinical and molecular characteristics., Subjects and Methods: The study included all patients with a clinical presentation of WS following up between 1991 and 2022 with early-onset diabetes mellitus and other WS signs and symptoms. A retrospective analysis was conducted, including patients' age, sex, consanguinity, age at symptom onset, diagnosis of diabetes mellitus, optic atrophy, diabetes insipidus, neurological and psychiatric disorders, hearing loss, urinary disorders, hypogonadism, and WFS1 molecular analysis., Results: Eight patients were identified, all of whom were diagnosed with diabetes mellitus at an average age of 3.7 years. Optic atrophy, diabetes insipidus, and hearing loss were common, while psychiatric and neurological alterations were observed in some cases. Genetic analysis revealed pathogenic variants in homozygosity or compound heterozygosity. The most frequent variant was p. Val412Serfs29, present in five of the seven families., Conclusions: This study represents the second-largest Brazilian sample of WS and is the first cohort from a single center in Southeast Brazil. The patients had an early, severe, and complete clinical presentation. The genetic variants identified were consistent with previous literature descriptions. The variant p. Val412Serfs29 was particularly common in this cohort, highlighting its relevance in the region., Competing Interests: Disclosure: no potential conflict of interest relevant to this article was reported.
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- 2024
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38. Normal ambulatory blood pressure in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy.
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Borges JH, Camargo DA, Sewaybricker LE, Santoro RI, de Oliveira DM, de Lemos-Marini SHV, Geloneze B, Guerra G Júnior, and Gonçalves EM
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- Adolescent, Adult, Female, Humans, Male, Young Adult, Blood Pressure physiology, Blood Pressure Monitoring, Ambulatory, Case-Control Studies, Hypertension, Steroid 21-Hydroxylase, Adrenal Hyperplasia, Congenital drug therapy, Adrenal Hyperplasia, Congenital complications, Glucocorticoids therapeutic use
- Abstract
Objective: Herein, we compared ambulatory blood pressure (ABP) between young adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase enzyme (21OHase) deficiency and a control group. Additionally, we analyzed correlations between the glucocorticoid dose and androgen levels and ABP parameters., Subjects and Methods: This case-control study included 18 patients (6 males and 12 females) and 19 controls (8 males and 11 females) matched by age (18-31 years). ABP monitoring was used to estimate blood pressure (BP) over a 24-h period., Results: No difference was noted between patients and controls in terms of systolic BP (males, 115.5 ± 5.6 vs. 117.0 ± 9.3, P = 0.733; and females, 106.4 ± 7.9 vs. 108.4 ± 7.6, P = 0.556, respectively) and diastolic BP during 24 h (males, 62.8 ± 7.5 vs. 66.2 ± 5.6, P = 0.349; and females, 62.7 ± 4.9 vs. 62.3 ± 4.9, P = 0.818, respectively). Systolic and diastolic BP and pulse pressure during daytime and nocturnal periods were similar between patients and controls. Furthermore, no differences were detected in the percentage of load and impaired nocturnal dipping of systolic and diastolic BP between patients and controls during the 24-h period. Additionally, the glucocorticoid dose (varying between r = -0.24 to 0.13, P > 0.05) and androgens levels (varying between r = 0.01 to 0.14, P > 0.05) were not associated with ABP parameters., Conclusion: No signs of an elevated risk for hypertension were observed based on ABP monitoring in young adults with CAH attributed to 21OHase deficiency undergoing glucocorticoid replacement therapy.
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- 2023
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39. Anthropometry and physical appearance can be associated with quality of life in Brazilian women with Turner syndrome.
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Reis CT, Macedo MC, Morcillo AM, Guerra G Junior, and de Lemos-Marini SHV
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- Humans, Female, Quality of Life psychology, Brazil, Cross-Sectional Studies, Surveys and Questionnaires, Anthropometry, Turner Syndrome psychology, Physical Appearance, Body
- Abstract
Objective: This study aimed to analyze if anthropometric factors and physical appearance are associated to QoL in Turner syndrome (TS)., Materials and Methods: Observational, analytical, and cross-sectional study. The SF-36 was applied along with an additional questionnaire regarding specific characteristics of TS., Results: There were no differences in quality of life (QoL) in TS women regarding median height and appropriate height according to parental target height, however, participants satisfied and who did not desire to change their height had better scores in the mental health and role emotional domains than those not satisfied and desired to change it. When comparing participants who were or were not bothered by physical appearance, the results showed that those not bothered by physical appearance had a better score in the vitality and social function domains. Considering patients who did or did not desire to change physical appearance, those who did not want to change their physical appearance had higher scores in the mental component and in the social function and mental health domains of the SF-36., Conclusion: This study indicated that anthropometric factors and physical appearance may possibly be associated to QoL in TS, and also emphasizes the need to develop and validate an official questionnaire regarding specific TS characteristics in order to assess in more detail how specific characteristics of TS interfere with their QoL.
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- 2023
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40. A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency.
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Kaupert LC, Gomes LG, Brito VN, Lemos-Marini SH, de Mello MP, Longui CA, Kochi C, de Castro M, Guerra G Jr, Mendonca BB, and Bachega TA
- Subjects
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase genetics, Adrenal Hyperplasia, Congenital pathology, Aldo-Keto Reductase Family 1 Member C3, Female, Humans, Membrane Proteins genetics, Retrospective Studies, Virilism pathology, 3-Hydroxysteroid Dehydrogenases genetics, Adrenal Hyperplasia, Congenital genetics, Alleles, Hydroxyprostaglandin Dehydrogenases genetics, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Virilism genetics
- Abstract
Background: In 21-hydroxylase deficiency (21-OHD), there is an influence of genotype on the severity of external genitalia virilization. However, females carrying mutations predicting a similar impairment of enzymatic activity present a wide variability of genital phenotypes. In such cases, interindividual variability in genes related to the sex steroid hormone pathway could play a role., Objective: To evaluate the influence of POR, HSD17B5 and SRD5A2 variants on the severity of external genitalia virilization in 21-OHD females., Design and Patients: Prader stages were evaluated in 178 females with 21-OHD from a multicenter study. The 21-OHD genotypes were divided into two groups according to their severity: severe and moderate. The influences of the POR p.A503V, HSD17B5 c.-71A>G, HSD17B5 c.-210A>C, and SRD5A2 p.A49T and p.V89L variants on the degree of external genitalia virilization were analyzed., Results: The POR p.A503V, HSD17B5 c.-71A>G, HSD17B5 c.-210A>C, and SRD5A2 p.A49T and p.V89L variants were found in 25, 33, 17, 1, and 31% of the alleles, respectively. In uni- and multilinear regression, HSD17B5 c.-210A>C has a significant influence on the degree of external genitalia virilization. This variant was also identified with a higher frequency in the most severely virilized females., Conclusion: We demonstrated that a variant in the promoter region of HSD17B5 related to fetal androgen synthesis influences the genital phenotype in 21-OHD females., (© 2016 S. Karger AG, Basel.)
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- 2016
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41. Performance of phalangeal quantitative ultrasound parameters in the evaluation of reduced bone mineral density assessed by DX in patients with 21 hydroxylase deficiency.
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Gonçalves EM, Sewaybricker LE, Baptista F, Silva AM, Carvalho WR, Santos AO, de Mello MP, Lemos-Marini SH, and Guerra G Jr
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- Adolescent, Adrenal Hyperplasia, Congenital diagnosis, Adrenal Hyperplasia, Congenital physiopathology, Adult, Child, Female, Humans, Image Interpretation, Computer-Assisted methods, Male, Osteoporosis etiology, Reproducibility of Results, Sensitivity and Specificity, Young Adult, Absorptiometry, Photon methods, Adrenal Hyperplasia, Congenital complications, Bone Density, Elasticity Imaging Techniques methods, Finger Phalanges diagnostic imaging, Osteoporosis diagnosis, Osteoporosis physiopathology
- Abstract
The purpose of this study was to verify the performance of quantitative ultrasound (QUS) parameters of proximal phalanges in the evaluation of reduced bone mineral density (BMD) in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21 OHD). Seventy patients with 21 OHD (41 females and 29 males), aged between 6-27 y were assessed. The QUS measurements, amplitude-dependent speed of sound (AD-SoS), bone transmission time (BTT), and ultrasound bone profile index (UBPI) were obtained using the BMD Sonic device (IGEA, Carpi, Italy) on the last four proximal phalanges in the non-dominant hand. BMD was determined by dual energy X-ray (DXA) across the total body and lumbar spine (LS). Total body and LS BMD were positively correlated to UBPI, BTT and AD-SoS (correlation coefficients ranged from 0.59-0.72, p < 0.001). In contrast, when comparing patients with normal and low (Z-score < -2) BMD, no differences were found in the QUS parameters. Furthermore, UBPI, BTT and AD-SoS measurements were not effective for diagnosing patients with reduced BMD by receiver operator characteristic curve parameters. Although the AD-SoS, BTT and UBPI showed significant correlations with the data obtained by DXA, they were not effective for diagnosing reduced bone mass in patients with 21 OHD., (Copyright © 2014 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.)
- Published
- 2014
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42. Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria.
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Guaragna MS, Lutaif AC, Piveta CS, Belangero VM, Maciel-Guerra AT, Guerra G Jr, and De Mello MP
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- Amino Acid Sequence, Exons genetics, Female, Humans, Molecular Sequence Data, Mutation, Pedigree, Protein Conformation, WT1 Proteins chemistry, Young Adult, Nephrosis complications, Proteinuria etiology, Proteinuria genetics, WT1 Proteins genetics
- Abstract
Wilms' tumor type 1 gene (WT1) encodes a zinc-finger transcription factor that plays a key role during genitourinary development and in adult kidney. Mutations in exons 8 and 9 are associated with Denys-Drash Syndrome, whereas those occurring in the intron 9 donor splice site are associated with Frasier Syndrome. Familial cases of WT1 mutations are rare with only few cases described in the literature, whereas cases of WT1 mutations associated with isolated nephrotic proteinuria with or without focal segmental glomerular sclerosis (FSGS) are even rarer. Exons 8 and 9 of WT1 gene were analyzed in two non-related female patients and their parents. Patient 1, who presented with isolated nephrotic proteinuria and histologic pattern of FSGS, is heterozygous for the mutation c.1227+4C>T. This mutation was inherited from her mother, who had undergone kidney transplant due to FSGS. Patient 2 is heterozygous for the novel c.1178C>T transition inherited from her father. The putative effect of this nucleotide substitution on WT1 protein is p.Ser393Phe mutation located within the third zinc-finger domain. The patient and her father presented, respectively, isolated nephrotic proteinuria and chronic renal failure. These data highlight the importance of the inclusion of WT1 gene mutational analysis in patients with isolated nephrotic proteinuria, especially when similar conditions are referred to the family., (Copyright © 2013 Elsevier Inc. All rights reserved.)
- Published
- 2013
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43. Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants.
- Author
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dos Santos AP, Andrade JG, Piveta CS, de Paulo J, Guerra G Jr, de Mello MP, and Maciel-Guerra AT
- Subjects
- Adolescent, Chromosomes, Human, Y, Expressed Sequence Tags, Female, Gonadal Dysgenesis genetics, Humans, Infertility, Male, Karyotype, Male, Mosaicism, Testis abnormalities, Young Adult, Chromosome Deletion, Gonadal Dysgenesis, Mixed genetics, Sex Chromosome Aberrations, Sex Chromosome Disorders of Sex Development
- Abstract
Background: Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. The karyotype in PGD is 46,XY, whereas a 45,X/46,XY mosaicism or its variants (more than two lineages and/or structural abnormalities of the Y chromosome) is generally found in MGD. Such mosaics are also compatible with female phenotype and Turner syndrome, ovotesticular disorder of sex development, and infertility in men with normal external genitalia. During the last few years, evidences of a linkage between Y microdeletions and 45,X mosaicism have been reported. There are also indications that the instability caused by such deletions might be more significant in germ cells. The aim of this work was to investigate the presence of Y chromosome microdeletions in individuals with PGD and in those with 45,X/46,XY mosaicism or its variants and variable phenotypes., Methods: Our sample comprised 13 individuals with PGD and 15 with mosaicism, most of them with a MGD phenotype (n = 11). Thirty-six sequence tagged sites (STS) spanning the male specific region (MSY) on the Y chromosome (Yp, centromere and Yq) were analyzed by multiplex PCR and some individual reactions., Results: All STS showed positive amplifications in the PGD group. Conversely, in the group with mosaicism, six individuals with MGD had been identified with Yq microdeletions, two of them without structural abnormalities of the Y chromosome by routine cytogenetic analysis. The deleted STSs were located within AZFb and AZFc (Azoospermia Factor) regions, which harbor several genes responsible for spermatogenesis., Conclusions: Absence of deletions in individuals with PGD does not confirm the hypothesis that instability of the Y chromosome in the gonads could be one of the causes of such condition. However, deletions identified in the second group indicate that mosaicism may be associated with Y chromosome abnormalities detectable only at the molecular level. If patients with mosaicism and Y microdeletions reared as males decide to undergo in vitro fertilization, Y chromosomes which tend to be unstable during cell division may be transmitted to offspring.
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- 2013
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44. Spontaneous final height in Turner's syndrome in Brazil.
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de Lemos-Marini SH, Morcillo AM, Baptista MT, Guerra G Jr, and Maciel-Guerra AT
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- Adolescent, Adult, Brazil epidemiology, Fathers, Female, Growth Disorders epidemiology, Growth Disorders physiopathology, Humans, Karyotyping, Male, Middle Aged, Mothers, Puberty, Risk Factors, Turner Syndrome epidemiology, Turner Syndrome physiopathology, Body Height physiology, Growth Disorders etiology, Turner Syndrome complications
- Abstract
Short stature is the main factor of emotional impact in girls and women with Turner's syndrome (TS). Growth hormone, alone or associated with sex steroids, allows better adult height. The results of spontaneous final height (FH) in TS can help to evaluate the real cost-benefit of any treatment to improve FH in patients from the same population. The aim of this study was to determine spontaneous FH in women TS and to look for factors which influence it. We evaluated 58 patients with TS who attained FH. Data of weight and length at birth, parents' heights, karyotype, spontaneous puberty and sex hormone replacement were obtained. Mean FH was 144.8 cm and target height 157.0 cm. FH was correlated only to maternal height. The deficit in FH was lower than that found in other Brazilian studies but similar to that described in the literature. This study may help verify the efficacy of therapeutic actions on FH of Brazilian women with TS.
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- 2007
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45. [Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation].
- Author
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Bachega TA, Billerbeck AE, Parente EB, Lemos-Marini SH, Baptista MT, Mello MP, Guerra G Jr, Kuperman H, Setian N, Damiani D, Torres N, Castro Md, and Mendonça BB
- Subjects
- Child, Female, Genotype, Humans, Male, Mutation, Phenotype, Adrenal Hyperplasia, Congenital genetics
- Abstract
We analyzed the clinical and molecular data of 205 patients with the three different clinical forms of 21-hydroxylase deficiency, in whom the clinical and molecular diagnosis were already defined. The most frequent mutations were I2 splice in the salt wasting form, I172N in the simple virilizing and V281L in the nonclassical form, presenting similar frequencies as those observed in other populations. We found a lower frequency of 21-hydroxylase gene deletion, similar to that previously identified in Argentinean and Mexican populations. Five new mutations were described in our population: G424S, H28+C, Ins 1003 1004 A, R408C and IVS2-2A>G. The genotype was classified in three groups according to the impairment of enzymatic activity observed in vitro, Group A: 0-2%, Group B: 3-7% and Group C: >20%. Group A mutations correlated with the salt wasting form, the Group B with simple virilizing form and Group C with the non classical form. The severity of genotype showed a positive correlation with higher 17OH-progesterone and testosterone levels. The I2 splice mutation in homo or hemizygosis confers classical form phenotype with both salt wasting and simple virilizing forms, precluding the prediction of the clinical form through genotype in pre and neonatal diagnosis. The good genotype-phenotype correlation in patients with 21-hydroxylase deficiency shows the usefulness of genotype to predict the clinical form for genetic counseling, prenatal diagnosis and to confirm neonatal screening diagnosis, except in cases with I2 splice mutation.
- Published
- 2004
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46. [Turner syndrome: the patients' view].
- Author
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Suzigan LZ, Paiva e Silva RB, Lemos Marini SH, Baptista MT, Guerra G Jr, Magna LA, and Maciel Guerra AT
- Subjects
- Adolescent, Adult, Body Height, Female, Humans, Infertility, Female psychology, Interpersonal Relations, Self Concept, Turner Syndrome psychology
- Abstract
Objective: To identify how patients with Turner syndrome perceive their condition., Methods: Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of Turner syndrome at the moment of the diagnosis, their understanding of the syndrome, its effect in their lives, and their expectations for the future., Results: Only 31% of the patients immediately understood the diagnosis. Their feelings associated to that moment were neutral (47%) or concerned (33%). About one third of the interviewed women were unable to explain the etiology of Turner syndrome (42%), did not relate their symptoms with Turner syndrome (36%), and/or believe there might be a cure for it (44%). Although most of the interviewed women affirm that the syndrome has no interference in their lives (67%) and that they consider themselves happy persons (78%), in more than half of the interviews there are evidences of difficulties in social interaction and love relationship, low self-esteem, dissatisfaction with their physical appearances, especially the short stature and infertility. Their hopes for the future refer mainly to study and have a job. Although being, on average, 19 years old, one in two women (53%) still hopes to grow up., Conclusion: Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-esteem and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of a psychologist and the medical team.
- Published
- 2004
47. Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density.
- Author
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de Almeida Freire PO, de Lemos-Marini SH, Maciel-Guerra AT, Morcillo AM, Matias Baptista MT, de Mello MP, and Guerra G Jr
- Subjects
- Adolescent, Adrenal Hyperplasia, Congenital diagnosis, Adrenal Hyperplasia, Congenital etiology, Age Factors, Bone Density, Child, Child, Preschool, Cross-Sectional Studies, Female, Glucocorticoids pharmacology, Humans, Male, Puberty, Sex Factors, Steroid 21-Hydroxylase biosynthesis, Steroid 21-Hydroxylase genetics, Steroid Hydroxylases deficiency, Adrenal Hyperplasia, Congenital pathology
- Abstract
Glucocorticoids are essential in the treatment of patients with congenital adrenal hyperplasia (CAH). The opposite actions of glucocorticoids and androgens in bone mass achievement justify a study of bone mineral density (BMD) in these patients. We evaluated BMD in patients with CAH due to classic 21-hydroxylase (CYP21A2) deficiency and investigated the involvement of clinical and laboratory factors in the BMD. This study assessed the clinical and laboratory factors involved in BMD of 45 patients at the Pediatric Unit of Endocrinology, UNICAMP, who had been diagnosed as having classical CAH due to CYP21A2 deficiency including molecular characterization. The sample consisted of 28 females and 17 males; 23 salt-wasting (SW) and 22 simple virilizing (SV) cases, with average of 9.9 years (ranges, 5.1-16.3 years) when bone densitometry was performed. The DEXA method was used for calculating the areal BMD Z score in L2-L4. The variables were analyzed with reference to the BMD for chronological age (BMD/CA), height age (BMD/HA), and bone age (BMD/BA). The mean Z score for BMD/CA was 0.08 +/- 1.21 (-2.55 to 2.64); it was 0.29 +/- 1.33 (-2.01 to 4.00) for BMD/HA, and -0.90 +/- 1.24 (-3.41 to 1.92) for BMD/BA. The BMD/CA was significantly lower in females and in patients on treatment for a long period and of more advanced chronological age. Weight and body mass index (BMI) Z scores showed a positive correlation with advanced BA. The higher the weight and BMI Z scores, the higher the BMD/HA. The BMD/BA values were significantly higher in the group in which BA was closer to CA. The BMD/BA value was significantly lower when compared to the value obtained with height and chronological ages. Sex, duration of treatment, weight, BMI, and bone age have an effect on areal BMD in patients with CAH due to CYP21A2 deficiency, which may be underestimated when evaluated in relation to CA and HA.
- Published
- 2003
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48. Bone mineralization in Turner syndrome: a transverse study of the determinant factors in 58 patients.
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Costa AM, Lemos-Marini SH, Baptista MT, Morcillo AM, Maciel-Guerra AT, and Guerra G Jr
- Subjects
- Adolescent, Adult, Body Height, Body Weight, Child, Child, Preschool, Estrogens therapeutic use, Female, Humans, Karyotyping, Lumbar Vertebrae physiology, Puberty, Turner Syndrome drug therapy, Turner Syndrome genetics, Bone Density, Calcification, Physiologic, Turner Syndrome physiopathology
- Abstract
Turner syndrome (TS) is characterized by the presence of an X chromosome and total or partial loss of the second sex chromosome, short stature, hypergonadotrophic hypogonadism, and a variable dysmorphic picture. Delayed puberty and estrogen deficiency are some of the determinant factors of osteoporosis in TS, but the whether or not there is an intrinsic bone defect is still obscure. The aim of this study was to evaluate the correlation of the z score of bone mineral density (BMD) with age, weight, height, karyotype, associated diseases, bone age, and estrogen therapy in TS patients. We performed a transverse study with area BMD of L2-L4 with dual-energy X-ray absorptiometry (DEXA) in 58 patients with a cytogenetic diagnosis of TS, whose ages ranged from 5 to 29 years. It was observed that 86% of the patients presented with a BMD z score below -1 SD, and 46.5% with a value below -2.5 SD. There was a significant negative association of BMD with age and height, and a positive association with weight and bone mass index (BMI) z scores. A higher BMD was observed in patients with spontaneous puberty and in those with more than 2 years of hormone replacement. In conclusion, there was a high incidence of reduced bone mass among our patients, which was influenced by weight and BMI, by the use and the time of estrogen replacement, and by the presence of spontaneous puberty.
- Published
- 2002
- Full Text
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