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1.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 41(3): 98-103, jul.-sept. 2014. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-124899

RESUMO

El propósito de este estudio fue determinar la incidencia, indicaciones, resultados maternos y complicaciones de la histerectomía periparto en nuestro medio. Para ello se analizaron retrospectivamente 17 casos de histerectomía periparto ocurridos entre enero de 2001 y diciembre de 2005 en el Servicio de Obstetricia y Ginecología del Hospital General Universitario de Elche. La incidencia de la intervención fue de 1,3 por 1.000 nacimientos. Las indicaciones más frecuentes fueron: atonía uterina (53%), acretismo placentario (23%) y rotura uterina (12%). No hubo muertes maternas. Hemorragia/coagulopatía (53%) e infección (24%) fueron las complicaciones habituales. Más de un 90% precisaron transfusión. La histerectomía periparto se acompañó de una importante morbilidad. La identificación previa de los probables casos puede permitir mejorar los resultados mediante la preparación adecuada para esa eventualidad y la participación de obstetras más experimentados


The aim of this study was to determine the incidence, indications, maternal outcomes and complications of peripartum hysterectomy in our environment. For this purpose we retrospectively analyzed 17 cases of peripartum hysterectomy performed at the Obsterine rupture (12%). There were no maternal deaths. The most common complications were hemorrhage/coagulopathy (53%) and infection (24%). More than 90% of the patients required transfusion Peripartum hysterectomy was associated with significant morbidity. Prior identification of probable cases can improve the results by allowing adequate preparation for this procedure and the involvement of the most experienced obstetricians


Assuntos
Humanos , Feminino , Histerectomia , Inércia Uterina/cirurgia , Placenta Acreta/cirurgia , Ruptura Uterina/cirurgia , Hemorragia Pós-Parto/cirurgia , Complicações do Trabalho de Parto/cirurgia , Estudos Retrospectivos
2.
Appl Biochem Biotechnol ; 169(2): 493-501, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23233193

RESUMO

Microbial ß-glucosidases have been used for the enhancement of wine aroma. Nevertheless, few enzymes are active in the conditions of winemaking. In this work, the production of a ß-glucosidase by an Aureobasidium pullulans strain (Ap-ß-gl) isolated from grape ecosystems was evaluated. The maximum enzymatic synthesis using submerged fermentation was after 96 h of growth in complex media containing 20 g/L of cellobiose as the sole carbon source. The crude enzyme (Ap-ß-gl) showed optimal pH at 5.5 and two peaks of optimum temperature (at 45 and 70 °C). It showed a wide range of pH stability, stability at low temperatures, and tolerance to ethanol, showing suitable characteristics for winemaking conditions. The hydrolysis of glycosidic terpenes by Ap-ß-gl was studied, and its ability to efficiently release free terpenols was demonstrated by gas chromatography/mass spectrometry. The enzymatic treatment notably increased the amount of monoterpenes, showing good prospects for its potential application for the development of aroma in wines.


Assuntos
Ascomicetos/enzimologia , Manipulação de Alimentos/métodos , Odorantes/análise , Vinho/análise , Vinho/microbiologia , beta-Glucosidase/química , beta-Glucosidase/metabolismo , Estabilidade Enzimática , Análise de Alimentos
3.
J Med Virol ; 84(3): 548-50, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22246845

RESUMO

A cross-sectional study of seroprevalence of rubella antibodies was carried out in all immigrant pregnant women (1,627) from February 2006 to June 2010. For each immigrant woman one Spanish pregnant woman was recruited. The seroprevalence of IgG antibodies against rubella in immigrant women was 92% (95% confidence interval [CI]: 90.4-93.3), and in native women was 97.7% (95%CI: 96.7-98.4) (P < 0.001). Immunity against was lowest among women from Latin America (odds ratio [OR]: 0.17), followed by women from Asia (OR: 0.20), Sub-Saharan Africa (OR: 0.27) and Northern Africa (OR: 0.37). Female immigrants from developing countries should be targeted for immunization to reduce the risk of congenital rubella.


Assuntos
Emigrantes e Imigrantes , Rubéola (Sarampo Alemão)/epidemiologia , Rubéola (Sarampo Alemão)/imunologia , Adolescente , Adulto , Anticorpos Antivirais/sangue , Anticorpos Antivirais/imunologia , Estudos Transversais , Feminino , Humanos , Imunoglobulina G/sangue , Imunoglobulina G/imunologia , Pessoa de Meia-Idade , Gravidez , Estudos Soroepidemiológicos , Espanha/epidemiologia , Espanha/etnologia , Adulto Jovem
4.
J Food Sci ; 76(7): C997-1002, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21819399

RESUMO

UNLABELLED: For the first time, the production of an extracellular ß-glucosidase (Sp-ß-gl) by a Sporidiobolus pararoseus yeast strain is reported. The Sp-ß-gl activity was quantified, characterized, and assessed for its efficiency in releasing aroma-enhancing compounds in wines. The maximum enzymatic synthesis was after 72 h of growth in a complex media with 20 g/L of cellobiose. The optimal pH and temperature were 5.5 and at 50 °C, respectively. It showed a wide range of pH stability and exhibited quite high thermostability at low temperatures. In addition, this ß-glucosidase revealed tolerance to wine-associated inhibitory compounds (sugars and ethanol), showing suitable characteristics for all the stages of alcoholic fermentation. The hydrolysis of the glycosidic terpenes by Sp-ß-gl was studied by gas chromatography, and its ability to efficiently release free terpenols has been demonstrated. The concentrations of geraniol, linalool, α-terpineol, and nerol were significantly increased in treated wines. These results suggest the potential application of this new yeast ß-glucosidase as an aroma-enhancing enzyme in winemaking. PRACTICAL APPLICATION: The search for new ß-glucosidase from yeast sources is important to improve the quality of wines. In this work, an S. pararoseus yeast strain has shown to be capable to produce a ß-glucosidase with suitable combination of properties for functionality in wines and with potential to increase the concentration of free aroma compounds, showing good prospects for an industrial application.


Assuntos
Basidiomycota/enzimologia , Manipulação de Alimentos/métodos , Vinho , beta-Glucosidase/metabolismo , Monoterpenos Acíclicos , Monoterpenos Cicloexânicos , Cicloexenos/análise , Estabilidade Enzimática , Fermentação , Concentração de Íons de Hidrogênio , Monoterpenos/análise , Odorantes/análise , Temperatura , Terpenos/análise , Terpenos/metabolismo
9.
Rev. esp. cir. ortop. traumatol. (Ed. impr.) ; 54(3): 149-155, mayo-jun. 2010. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-81205

RESUMO

Objetivo: Evaluar los resultados de un programa de conciliación e información de medicación al alta hospitalaria en un servicio de cirugía ortopédica y traumatología. Material y método: Se incluyeron los pacientes ingresados durante 2008 con mayor complejidad en su tratamiento domiciliario. Este se registró y se confirmó, mediante una entrevista con el paciente, la adherencia a éste, así como problemas relacionados con la medicación (PRM). A partir de la epicrisis, se concilió la medicación prescrita con el tratamiento ambulatorio y se resolvieron las discrepancias con el facultativo encargado. Por último, se entregó al paciente el listado completo de su medicación a partir del episodio asistencial y recomendaciones sobre su tratamiento, con la explicación verbal de este. Realizamos una encuesta de satisfacción a los traumatólogos para conocer el conocimiento del programa y su valoración. Resultados: Se seleccionaron 243 pacientes; en 102 (42%) se detectaron PRM. Las principales discrepancias se encontraron en fármacos antitrombóticos (25%) y analgésicos y antiinflamatorios (21%). Las discrepancias más frecuentes fueron la duplicidad terapéutica (53%) y las interacciones (27%). Los PRM se clasificaron según su gravedad: el 65% no habría causado daño al paciente y un 35% requeriría monitorización. Resultados: En cuanto a la encuesta de satisfacción, la valoración global del programa fue «muy buena» para el 100% de los facultativos. Discusión: La conciliación de medicación se ha mostrado como una estrategia útil para aumentar la seguridad de nuestros pacientes, en el marco de un sistema de reducción de riesgos para la salud y mejora de la calidad asistencial (AU)


Purpose: To evaluate the results of a medication reconciliation and drug information program at discharge in an orthopedic surgery and traumatology department. Materials and methods: Patients with more complexity in their home treatment, admitted in this facility during 2008 were included in the study. Preadmission regimens were recorded and the patents were asked about medication-related problems (PRM) and drug adherence. On the day of discharge, prescribed medication was reconciled with the outpatient treatment, resolving discrepancies with the prescribers. Finally, the patients were given a complete list of their medications after the care episode and recommendations on their treatment with oral explanation. We conducted a survey of the physicians to ask about their reconciliation program knowledge and their assessment.Results243 patients were selected, in whom 102 (42%) PRMs were detected. The major discrepancies were found in antithrombotic drugs (25%) and analgesics and anti-inflammatory drugs (21%). The most frequent were: therapeutic duplication (53%) and interactions (27%). The PRMs were classified according to their severity: 65% would not have caused harm to the patient and 35% would require monitoring. Results: Regarding the survey, the overall evaluation of the program was "very good" for 100% of the physicians. Discussion: Medication reconciliation has proved to be a useful strategy for improving the safety of our patients as part of a system to reduce health risks and improving quality of care (AU)


Assuntos
Humanos , Procedimentos Ortopédicos/estatística & dados numéricos , Ferimentos e Lesões/epidemiologia , Prescrições de Medicamentos/estatística & dados numéricos , Centros de Traumatologia/estatística & dados numéricos , Ferimentos e Lesões/cirurgia , Alta do Paciente/tendências , Assistência ao Convalescente/tendências , Esquema de Medicação
10.
Med. paliat ; 15(1): 7-17, 2008. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-139953

RESUMO

Objetivo: describir el proceso de citación en la consulta externa y sus principales resultados clínicos del Servicio de Cuidados Paliativos del Institut Català d’Oncologia, para el periodo 2001-2005. Pacientes y métodos: pacientes consecutivos por los que se consultó y se visitaron en las consultas externas durante el periodo de estudio. Cada paciente por el que se consultó fue evaluado y programado para visita siguiendo un protocolo claramente definido. En cada visita se registraron variables demográficas y clínicas y se evaluaron el dolor, anorexia, estreñimiento, insomnio, debilidad, ansiedad y depresión. La eficacia en el control sintomático se analizó para aquellos pacientes que fueron capaces de hacer tres visitas consecutivas. Resultados: referente al proceso de citación fueron evaluables 2.385 pacientes. El 80% de los pacientes programados vinieron a visita y la mediana de tiempo entre la demanda y la visita fue de 10 días. La evaluación del control sintomático fue posible para 553 pacientes, mostrando un significativo buen control de todos los síntomas con excepción de la astenia. El 55% de los pacientes requirieron opioides para el dolor, observándose un cambio en el patrón pasando de morfina a fentanilo TTS. Conclusiones: la carga asistencial, en nuestro centro, en la consulta externa de cuidados paliativos es alta. Los resultados del proceso de citación muestran un alto cumplimiento con un mínimo tiempo de espera entre la petición y la visita. Los resultados clínicos muestran un buen control global de los síntomas con excepción de la astenia. También se observa un cambio en el patrón de la prescripción de opioides. Este estudio ha de ser considerado como la línea basal para futuros estudios en nuestro centro o en otros de características similares (AU)


Objective: to describe the appointment scheduling process in the outpatient clinic, and the main clinical results of the palliative care service at Institut Català d’Oncologia for the period 2001-2005. Patients and methods: patients consecutively visited in the outpatient clinic during the study period. Each patient was evaluated and scheduled following a clearly defined appointment protocol. Demographic and clinical variables, and symptom control for pain, anorexia, constipation, insomnia, weakness, anxiety, and depression were recorded for each visit. Symptom control efficacy was analyzed for patients able to pay three consecutive visits. Results: regarding the appointment process, 2,385 patients were evaluable. Eigthy percent of patients scheduled were able to attend the visit, and the median time between request and visit was 10 days. Symptom control was evaluable for 553 patients, with a significantly good control for all symptoms but weakness. Opioids for pain were used by 55% of patients, with a progressive change in the pattern of prescription from morphine to fentanil-TTS. Conclusion: in our center palliative care outpatient activity has a high workload. The results of our appointment process show high compliance with a minimum delay between request and visit. Overall, clinical outcomes demonstrate a good control for a set of paradigmatic symptoms in advanced cancer patients, except fort weakness. Also, a change was found in the pattern of opioid prescription. This study should be considered a baseline report that may be of help for further analyses, both in our Institute and other cancer centers (AU)


Assuntos
Humanos , Manejo da Dor/métodos , Cuidados Paliativos/métodos , Assistência Ambulatorial/organização & administração , Analgesia/métodos , Melhoria de Qualidade , Indicadores de Qualidade de Vida , Indicadores de Qualidade em Assistência à Saúde
11.
Farm Hosp ; 31(4): 206-11, 2007.
Artigo em Espanhol | MEDLINE | ID: mdl-18052614

RESUMO

OBJECTIVE: To describe the extent of interruptions to treatment with therapies which include the combination of lopinavir-ritonavir within the SNS (Spanish National Health System), as well as identify the causes of these interruptions and analyse the factors associated with the same. METHOD: Retrospective cohort of 197 seropositive patients, who began treatment with lopinavir-ritonavir between January 2000 and October 2002. The patients attended the outpatient pharmaceutical care unit and were followed-up until December 2002. Interruptions and their causes were identified and the factors associated with the interruption were analysed using proportional hazard models. RESULTS: The mean follow-up period was 263 days and 38.6% of patients interrupted therapy. The most common causes of interruption were intolerance (30.3%), non-compliance (21.1%) and therapy failure (5.26%). The mean treatment period was 487 days (95% CI: 432 to 542) and 50% of patients who interrupted treatment did so within the first 4 months. No associations were found between patient or treatment characteristics and the risk of interruption. CONCLUSIONS: The percentage of interruptions was lower than those in other observational studies, but greater than those in clinical trials. The significance of the causes of interruption was similar and no factor associated with the risk of interruption was found.


Assuntos
Inibidores da Protease de HIV/administração & dosagem , Soropositividade para HIV/tratamento farmacológico , Pirimidinonas/administração & dosagem , Ritonavir/administração & dosagem , Adulto , Idoso , Quimioterapia Combinada , Feminino , Seguimentos , Inibidores da Protease de HIV/efeitos adversos , Humanos , Lopinavir , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Ritonavir/efeitos adversos , Recusa do Paciente ao Tratamento/estatística & dados numéricos
12.
An. med. interna (Madr., 1983) ; 24(10): 484-489, oct. 2007. ilus, tab
Artigo em Es | IBECS | ID: ibc-058773

RESUMO

Objetivo: Valorar la eficacia del tratamiento antirretroviral en mujeres con infección por VIH, evaluar la evolución de la enfermedad y establecer la supervivencia. Diseño: Estudio retrospectivo que comprende desde el año 1985 hasta Diciembre de 2004. Incluye 75 mujeres elegidas aleatoriamente de entre todas las pacientes del Servicio de Consultas Externas del Hospital Arnau de Vilanova, mayores de 18 años, con infección por VIH y con tratamiento antirretroviral. Las pacientes se han dividido en dos grupos en función de la fecha de inicio de la terapia, antes o después de 1997, ya que a partir de este año se produjo un cambio significativo en la terapia antirretroviral. Método: Se realizó una comparación del perfil epidemiológico y demográfico, del tratamiento inicial y final, de la eficacia del tratamiento antirretroviral, de la evolución de la infección y de la supervivencia en los dos grupos de pacientes. Resultados: Un 66.7% de las pacientes del primer grupo y un 85.2% de las pacientes del segundo tuvieron cargas virales negativas al final del estudio. El 47,9% de las pacientes que iniciaron tratamiento antes de 1997 consiguieron mantener recuentos de linfocitos CD4 superior a 500 células/ml frente al 59,3% de las pacientes que iniciaron tratamiento a partir de 1997. Sólo hubo 6 fallecidos correspondiendo al primer grupo de las pacientes. Conclusiones: los datos obtenidos en nuestro estudio sugieren que el tratamiento antirretroviral ha sido eficaz en los dos grupos de pacientes lo que ha permitido una buena evolución de las mismas y prolongar su supervivencia


Objectives: To assess antiretroviral treatment in women with HIV infection, to evaluate the evolution of the disease and to establish the survival rate of these patients. Design: A retrospective study performed from 1985 to December, 2004. Seventy-five women, chosen randomly from all patients attending the Out-patients Department, Arnau de Vilanova Hospital, Spain. All patients were over 18 years of age, with HIV infection and undergoing antiretroviral treatment. Patients were divided into two groups according to the starting date of therapy, before or after the year 1997 when a significant change in antiretroviral therapy took place, referring both to the number of drugs used and their potency. Methods: A comparison was made regarding the epidemiological and demographic profile, the initial and final treatment, the efficacy of antiretroviral treatment, the evolution of the HIV infection and the survival rate between both groups of patients. Results: Sixty-six point seven per cent (66.7%) of the patients in the first group and 85.2% of patients in the second had negative viral loads at study end. Forty-seven point nine per cent (47.9%) of patients starting treatment before 1997, maintained CD4 lymphocyte counts above 500 cells/mL compared with 59.3% of the patients who started treatment after 1997. There were only 6 deaths, which corresponded to the first group of patients. Conclusions: The data obtained from our study suggests that antiretroviral treatment is effective in both groups of patients, and has enabled good evolution and lengthened the survival rate


Assuntos
Feminino , Adulto , Humanos , Síndrome da Imunodeficiência Adquirida/tratamento farmacológico , Terapia Antirretroviral de Alta Atividade , Síndrome da Imunodeficiência Adquirida/diagnóstico , Fármacos Anti-HIV/farmacologia , Sobrevivência , Antígenos CD4 , Infecções Oportunistas Relacionadas com a AIDS/diagnóstico , Síndrome da Imunodeficiência Adquirida/epidemiologia , Sorodiagnóstico da AIDS
13.
Farm. hosp ; 31(4): 206-211, jul.-ago. 2007. ilus, tab
Artigo em Es | IBECS | ID: ibc-63218

RESUMO

Objetivo: Describir, en el entorno del Sistema Nacional deSalud (SNS), la magnitud de la interrupción del tratamiento conterapias que incluyen la combinación lopinavir/ritonavir, identificarlas causas de estas interrupciones y analizar los factores asociadosa las mismas.Método: Cohorte retrospectiva de 197 pacientes seropositivosque iniciaron tratamiento con lopinavir/ritonavir entre enerode 2000 y octubre de 2002 en la unidad de atención farmacéuticaa pacientes externos, y fueron seguidos hasta diciembre de 2002.Se identificaron los casos de interrupción y sus causas y se analizaron,utilizando modelos de riesgos proporcionales, los factoresasociados a la interrupción.Resultados: La duración media de seguimiento fue de 263días. El 38,6% de los pacientes interrumpió el tratamiento, siendolas causas más frecuentes la intolerancia (30,3%), el incumplimiento(21,1%) y el fracaso terapéutico (5,26%). La mediana deduración del tratamiento fue de 487 días (IC95%: 432-542) y el50% de los casos que interrumpieron lo hicieron antes de4 meses. No se hallaron asociaciones entre características de lospacientes o del tratamiento y el riesgo de interrupción.Conclusiones: El porcentaje de interrupciones fue inferior alde otros estudios observacionales pero superior al de los ensayosclínicos. La importancia de las causas de interrupción fue similar.No se halló ningún factor asociado al riesgo de interrupción


Objective: To describe the extent of interruptions to treatmentwith therapies which include the combination of lopinavirritonavirwithin the SNS (Spanish National Health System), as wellas identify the causes of these interruptions and analyse the factorsassociated with the same.Method: Retrospective cohort of 197 seropositive patients,who began treatment with lopinavir-ritonavir between January2000 and October 2002. The patients attended the outpatientpharmaceutical care unit and were followed-up until December2002. Interruptions and their causes were identified and the factorsassociated with the interruption were analysed using proportionalhazard models.Results: The mean follow-up period was 263 days and38.6% of patients interrupted therapy. The most common causesof interruption were intolerance (30.3%), non-compliance(21.1%) and therapy failure (5.26%). The mean treatment periodwas 487 days (95% CI: 432 to 542) and 50% of patients whointerrupted treatment did so within the first 4 months. No associationswere found between patient or treatment characteristics andthe risk of interruption.Conclusions: The percentage of interruptions was lower thanthose in other observational studies, but greater than those in clinicaltrials. The significance of the causes of interruption was similarand no factor associated with the risk of interruption wasfound


Assuntos
Humanos , Masculino , Feminino , Adulto , Soropositividade para HIV/tratamento farmacológico , Infecções por HIV/tratamento farmacológico , Antirretrovirais/uso terapêutico , Recusa do Paciente ao Tratamento/estatística & dados numéricos , Inibidores da Protease de HIV/uso terapêutico , Inibidores da Protease de HIV/efeitos adversos , Fatores de Risco , Estudos Retrospectivos , Combinação de Medicamentos
14.
An Med Interna ; 24(10): 484-9, 2007 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-18271652

RESUMO

OBJECTIVES: To assess antiretroviral treatment in women with HIV infection, to evaluate the evolution of the disease and to establish the survival rate of these patients. DESIGN: A retrospective study performed from 1985 to December, 2004. Seventy-five women, chosen randomly from all patients attending the Out-patients Department, Arnau de Vilanova Hospital, Spain. All patients were over 18 years of age, with HIV infection and undergoing antiretroviral treatment. Patients were divided into two groups according to the starting date of therapy, before or after the year 1997 when a significant change in antiretroviral therapy took place, referring both to the number of drugs used and their potency. METHODS: A comparison was made regarding the epidemiological and demographic profile, the initial and final treatment, the efficacy of antiretroviral treatment, the evolution of the HIV infection and the survival rate between both groups of patients. RESULTS: Sixty-six point seven per cent (66.7%) of the patients in the first group and 85.2% of patients in the second had negative viral loads at study end. Forty-seven point nine per cent (47.9%) of patients starting treatment before 1997, maintained CD4 lymphocyte counts above 500 cells/mL compared with 59.3% of the patients who started treatment after 1997. There were only 6 deaths, which corresponded to the first group of patients. CONCLUSIONS: The data obtained from our study suggests that antiretroviral treatment is effective in both groups of patients, and has enabled good evolution and lengthened the survival rate.


Assuntos
Terapia Antirretroviral de Alta Atividade , Infecções por HIV/tratamento farmacológico , Infecções por HIV/mortalidade , Adulto , Feminino , Humanos , Estudos Retrospectivos , Taxa de Sobrevida
15.
An. esp. pediatr. (Ed. impr) ; 55(1): 61-66, jul. 2001.
Artigo em Es | IBECS | ID: ibc-1901

RESUMO

Se presenta un nuevo caso de trisomía 18q parcial derivada de translocación balanceada 4;18 materna. La niña era portadora de una trisomía parcial del brazo largo del cromosoma 18, asociada a una monosomía parcial de 4q distal. La niña mostraba un fenotipo con muchas de las principales características de la trisomía 18, entre otros: dismorfia facial, cardiopatía congénita, manos con dedos segundo y quinto situados sobre el tercero y cuarto con contracturas no reducibles y anomalías genitales. Creemos que el fenotipo de la trisomía 18 requiere una amplia región de 18q para su presentación y tiene una expresión más grave cuanto mayor es el fragmento trisómico. El consejo genético en las familias portadoras de translocaciones equilibradas es de gran importancia. Es necesario valorar el riesgo en cada caso particular, e informar sobre las posibilidades de diagnóstico prenatal existentes (AU)


Assuntos
Recém-Nascido , Feminino , Humanos , Trissomia , Cromossomos Humanos Par 18 , Translocação Genética , Translocação Genética
16.
An Esp Pediatr ; 55(1): 61-6, 2001 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-11412471

RESUMO

We report a new case of partial trisomy 18q due to a balanced reciprocal translocation 4;18 in the mother. The female infant had a partial trisomy of the long arm of chromosome 18 associated with a partial monosomy of distal 4q. The infant showed many of the main clinical features of trisomy 18, such as dysmorphic face, congenital heart defect, crossing of the second and fifth fingers over the third and fourth with flexion contractures, and abnormal genitalia. We believe that the trisomy 18 phenotype requires a large region of 18q and that the greater the trisomic fragment, the more severe the expression. We stress the importance of genetic counseling to carriers of balanced translocations. The risk for each case should be evaluated and information should be given on the possibility of prenatal diagnosis.


Assuntos
Cromossomos Humanos Par 18 , Translocação Genética , Trissomia , Feminino , Humanos , Recém-Nascido
18.
An Esp Pediatr ; 45(6): 635-8, 1996 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-9133231

RESUMO

INTRODUCTION: Although it has been generally admitted that we know the cause of congenital malformations in about 40% of the cases, these data are based on very few studies. PATIENTS AND METHODS: Here we present the distribution of 22,784 malformed infants in our country by type of cause of their defects. RESULTS: Our results show a great impact of chromosomal alterations in causing congenital anomalies. On the other hand, performing the chromosomal study will enable the diagnosis of genetic entities, as well as environmental ones that are clinically similar to the clinical patterns produced by chromosomal abnormalities. CONCLUSIONS: We can recognize the cause of congenital defects in a proportion higher than the 40% which is generally accepted. Nowadays, there is no reason that justifies not performing a chromosomal study with high resolution band techniques in infants with congenital defects.


Assuntos
Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Humanos , Recém-Nascido
20.
Anticancer Res ; 16(4A): 2025-8, 1996.
Artigo em Inglês | MEDLINE | ID: mdl-8712737

RESUMO

On the basis of previous experiences indicating that the anti-oxidant agent Cu/Zn superoxide dismutase (SOD) is an effective drug in reducing acute and late radiation-induced tissue injury, in the Center of Radiotherapy and Oncology of Catalonia, Barcelona, Spain in 1990 we implemented a randomized prospective study to analyze the incidence and grade of side effects in a group of bladder cancer patients. After surgery patients were randomly allocated to receive either: Option A: Radiotherapy or Option B: Radiotherapy + SOD 8 mgr/IM/day, after each radiotherapeutic application. Between January 1990 and January 1995 a total of 448 patients were included (226 A/ 222 B). Apart from cutaneous side effects, a highly significant incidence of radioinduced acute cystitis and rectitis was detected in patients not treated by SOD. Which was similar to the delayed side effects. From our data we can conclude that SOD is effective in decreasing acute radioinduced damage, and also in preventing the appearance of more delayed disorders.


Assuntos
Antioxidantes/uso terapêutico , Cistite/prevenção & controle , Metaloproteínas/uso terapêutico , Lesões por Radiação/prevenção & controle , Radioterapia/efeitos adversos , Superóxido Dismutase/uso terapêutico , Neoplasias da Bexiga Urinária/radioterapia , Idoso , Análise de Variância , Antioxidantes/efeitos adversos , Terapia Combinada , Cistite/etiologia , Feminino , Humanos , Masculino , Metaloproteínas/efeitos adversos , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Estudos Prospectivos , Lesões por Radiação/etiologia , Superóxido Dismutase/efeitos adversos , Neoplasias da Bexiga Urinária/patologia , Neoplasias da Bexiga Urinária/cirurgia
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