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1.
Injury ; 52 Suppl 4: S131-S136, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33642078

RESUMEN

BACKGROUND: Trans-olecranon fracture dislocations are the least frequent complex elbow instability. Proper surgical treatment should be performed to avoid postoperative complications. METHODS: A retrospective design study was performed. Patients that suffered from this injury, treated at our center from 2010 to 2016 were included. Fifteen patients were analyzed. Functional results were measured using DASH, MEPS and VAS scores. Average time from injury to first surgical treatment was 4.87 days. Radial head fracture was present in seven cases and coronoid process in three patients. Most frequent complication was hardware disturbances in five patients. Mean follow up was 3.65 years. RESULTS: Mean range of motion (ROM) was evaluated 1 year postoperatively: 129° flexion, 6° flexion contracture, and less than 5° deficit of pronation/supination. Clinical and functional results are encouraging, DASH 36.38, MEPS 100 and VAS 0.46. CONCLUSION: Trans-olecranon fracture dislocations could obtain functional range of movement, pain relief and good functional outcomes with a standardized protocol of surgical fixation. It is important to achieve proper ulnar fixation, focusing in reestablishing dorsal angulation, and also to treat radial head and coronoid injuries properly, if present.


Asunto(s)
Articulación del Codo , Luxaciones Articulares , Inestabilidad de la Articulación , Olécranon , Fracturas del Radio , Fracturas del Cúbito , Articulación del Codo/diagnóstico por imagen , Articulación del Codo/cirugía , Fijación Interna de Fracturas , Humanos , Luxaciones Articulares/diagnóstico por imagen , Luxaciones Articulares/cirugía , Inestabilidad de la Articulación/cirugía , Fracturas del Radio/diagnóstico por imagen , Fracturas del Radio/cirugía , Rango del Movimiento Articular , Estudios Retrospectivos , Resultado del Tratamiento
2.
Rev. esp. cir. ortop. traumatol. (Ed. impr.) ; 64(6): 367-374, nov.-dic. 2020. ilus, tab
Artículo en Español | IBECS | ID: ibc-200710

RESUMEN

INTRODUCCIÓN Y OBJETIVOS: El concepto Lisfranc sutil define lesiones por baja energía del complejo articular tarso-metatarsiano (CTM) que suponen inestabilidad articular. Con frecuencia pasan desapercibidas, con secuelas a largo plazo. El objetivo es evaluar los resultados clínico-funcionales de los pacientes con lesiones CTM ligamentosas grado II-III (clasificación de Nunley y Vertullo) tratados con cirugía percutánea. MATERIAL Y MÉTODOS: Estudio retrospectivo sobre 16 pacientes intervenidos percutáneamente por lesión ligamentosa CTM. Se recogieron datos demográficos, días de demora del diagnóstico, técnica quirúrgica, reducción articular en carga (adecuada si espacio C1-M2 menor de 2 mm) y puntuación de la escala Manchester-Oxford (MOXFQ). Muestra constituida por nueve varones y siete mujeres, edad media de 43,6 años (17-71) y seguimiento medio 22 meses (12-28). RESULTADOS: El diagnóstico se demoró más de 24 horas en cuatro pacientes (3-6 días). En 11 pacientes el tratamiento consistió en reducción cerrada y síntesis percutánea con tornillos canulados desde M2 a C1 y desde C1 a C2. En tres pacientes se suplementó con agujas Kirschner en los radios laterales. Dos pacientes se trataron con único tornillo M2 a C1. No se consiguió una reducción anatómica en seis pacientes, con una media de 2,6 mm entre C1-M2 (2,1-3 mm); la puntuación media funcional MOXFQ de estos pacientes fue 41,1% (IC 95% 23,1-59,1%), peores resultados comparando con la reducción anatómica: 17,2% (IC 95% 5,7-28,7); diferencia estadísticamente significativa (p < 0,01). CONCLUSIÓN: Las lesiones sutiles del CTM son poco frecuentes y pueden pasar desapercibidas. El tratamiento quirúrgico con síntesis percutánea ofrece buenos resultados clínico-funcionales a medio plazo. La reducción anatómica es un factor determinante para el buen resultado funcional de nuestros pacientes


INTRODUCTION AND OBJECTIVES: The concept subtle Lisfranc defines low energy lesions of the tarsometatarsal joint complex (TMC) that involve joint instability. Often unnoticed, with long-term sequelae. The objective is to evaluate the clinical-functional results of patients with MTC ligament damage grade II-III (Nunley and Vertullo classification) treated with percutaneous surgery. MATERIAL AND METHODS: Retrospective study of 16 patients who underwent percutaneous surgery for MLC ligament damage. Demographic data, days of delay in diagnosis, surgical technique, joint reduction in load (adequate if C1-M2 space is less than 2 mm) and Manchester-Oxford scale (MOXFQ) score were collected. The sample consisted of nine males and seven females, mean age 43.6 years (17-71) and mean follow-up of 22 months (12-28). RESULTS: Diagnosis was delayed for more than 24 hours in four patients (3-6 days). In 11 patients the treatment consisted of closed reduction and percutaneous synthesis with cannulated screws from M2 to C1 and from C1 to C2. In three patients it was supplemented with Kirschner wires in the lateral radii. Two patients were treated with only M2 to C1 screws. An anatomical reduction was not achieved in six patients, with a mean of 2.6 mm between C1-M2 (2.1-3 mm); the mean functional MOXFQ score of these patients was 41.1% (IC 95% 23.1-59.1%), worse results compared to the anatomical reduction: 17.2% (IC 95% 5.7-28.7); statistically significant difference (p < 0.01). CONCLUSION: Subtle injuries from MTC are rare and can go unnoticed. Surgical treatment with percutaneous synthesis offers good clinical-functional results in the medium term. The anatomical reduction is a determining factor for the good functional result of our patients


Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Articulaciones Tarsianas/lesiones , Articulaciones Tarsianas/cirugía , Articulaciones Tarsianas/diagnóstico por imagen , Resultado del Tratamiento , Estudios Retrospectivos , Estudios de Seguimiento
3.
Artículo en Inglés, Español | MEDLINE | ID: mdl-32798164

RESUMEN

INTRODUCTION AND OBJECTIVES: The concept subtle Lisfranc defines low energy lesions of the tarsometatarsal joint complex (TMC) that involve joint instability. Often unnoticed, with long-term sequelae. The objective is to evaluate the clinical-functional results of patients with MTC ligament damage grade II-III (Nunley and Vertullo classification) treated with percutaneous surgery. MATERIAL AND METHODS: Retrospective study of 16 patients who underwent percutaneous surgery for MLC ligament damage. Demographic data, days of delay in diagnosis, surgical technique, joint reduction in load (adequate if C1-M2 space is less than 2 mm) and Manchester-Oxford scale (MOXFQ) score were collected. The sample consisted of nine males and seven females, mean age 43.6 years (17-71) and mean follow-up of 22 months (12-28). RESULTS: Diagnosis was delayed for more than 24 hours in four patients (3-6 days). In 11 patients the treatment consisted of closed reduction and percutaneous synthesis with cannulated screws from M2 to C1 and from C1 to C2. In three patients it was supplemented with Kirschner wires in the lateral radii. Two patients were treated with only M2 to C1 screws. An anatomical reduction was not achieved in six patients, with a mean of 2.6 mm between C1-M2 (2.1-3 mm); the mean functional MOXFQ score of these patients was 41.1% (IC 95% 23.1-59.1%), worse results compared to the anatomical reduction: 17.2% (IC 95% 5.7-28.7); statistically significant difference (p < 0.01). CONCLUSION: Subtle injuries from MTC are rare and can go unnoticed. Surgical treatment with percutaneous synthesis offers good clinical-functional results in the medium term. The anatomical reduction is a determining factor for the good functional result of our patients.


Asunto(s)
Fracturas Óseas/cirugía , Ligamentos Articulares/lesiones , Huesos Metatarsianos/lesiones , Articulación Metatarsofalángica/lesiones , Adolescente , Adulto , Anciano , Tornillos Óseos , Hilos Ortopédicos , Diagnóstico Tardío , Femenino , Fracturas Óseas/diagnóstico por imagen , Humanos , Inestabilidad de la Articulación/etiología , Inestabilidad de la Articulación/cirugía , Ligamentos Articulares/diagnóstico por imagen , Ligamentos Articulares/cirugía , Masculino , Huesos Metatarsianos/diagnóstico por imagen , Articulación Metatarsofalángica/diagnóstico por imagen , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven
4.
Weed Res ; 58(4): 250-258, 2018 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-30069065

RESUMEN

Weedy plants pose a major threat to food security, biodiversity, ecosystem services and consequently to human health and wellbeing. However, many currently used weed management approaches are increasingly unsustainable. To address this knowledge and practice gap, in June 2014, 35 weed and invasion ecologists, weed scientists, evolutionary biologists and social scientists convened a workshop to explore current and future perspectives and approaches in weed ecology and management. A horizon scanning exercise ranked a list of 124 pre-submitted questions to identify a priority list of 30 questions. These questions are discussed under seven themed headings that represent areas for renewed and emerging focus for the disciplines of weed research and practice. The themed areas considered the need for transdisciplinarity, increased adoption of integrated weed management and agroecological approaches, better understanding of weed evolution, climate change, weed invasiveness and finally, disciplinary challenges for weed science. Almost all the challenges identified rested on the need for continued efforts to diversify and integrate agroecological, socio-economic and technological approaches in weed management. These challenges are not newly conceived, though their continued prominence as research priorities highlights an ongoing intransigence that must be addressed through a more system-oriented and transdisciplinary research agenda that seeks an embedded integration of public and private research approaches. This horizon scanning exercise thus set out the building blocks needed for future weed management research and practice; however, the challenge ahead is to identify effective ways in which sufficient research and implementation efforts can be directed towards these needs.

5.
Eur J Obstet Gynecol Reprod Biol ; 151(1): 20-5, 2010 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-20398998

RESUMEN

OBJECTIVE: To determine the normal range of feto-maternal haemorrhage (FMH) due to labour, and to investigate if the type of delivery might influence the volume of FMH. STUDY DESIGN: In a prospective cohort trial setting we studied 346 women in their 3rd trimester of gestation. Women were classified according to the type of delivery: vaginal, instrumental and caesarean section. Fetal erythrocytes in maternal blood were measured by flow cytometry immunophenotyping using a fluorochrome-conjugated monoclonal antibody against fetal haemoglobin. For each woman, two blood samples were studied; one pre-labour and one post-labour. The difference between FMH values obtained post- and pre-delivery was established as FMH due to delivery. RESULTS: FMH due to labour ranged between <0.01 and 25.19 ml, being <1.15 ml in 96.13% of cases. This value was established as the upper limit of normal FMH due to delivery. No statistical significance was found between the volume of FMH and type of delivery. Analyzing distributions of groups, most data followed a normal distribution, apart from some patients who had higher volume of FMH. Among these patients caesarean sections showed a higher FMH volume, with statistically significant differences between vaginal deliveries and caesarean sections (p=0.001), and between instrumental deliveries and caesarean sections (p=0.008). CONCLUSIONS: FMH due to labour is small. The route of delivery could not be established as a risk factor for FMH but caesarean section increases the risk of suffering a higher amount of transplacental bleeding.


Asunto(s)
Transfusión Fetomaterna/diagnóstico , Trabajo de Parto/sangre , Adulto , Cesárea/efectos adversos , Estudios de Cohortes , Parto Obstétrico/efectos adversos , Femenino , Transfusión Fetomaterna/etiología , Citometría de Flujo , Humanos , Inmunofenotipificación , Embarazo , Estudios Prospectivos , Valores de Referencia , Factores de Riesgo
6.
J Assist Reprod Genet ; 26(8): 455-60, 2009 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-19789973

RESUMEN

PURPOSE: Prenatal diagnosis with ultrasound findings compatible with skeletal dysplasia due to FGFR3 mutations over a 9 year period in pregnancies and abortuses. METHODS: 54 samples were studied. Aneuploidy studies were carried out on all samples. By sequencing analysis, we determined mutations for achondroplasia (ACH), hypochondroplasia (HCH), and type I and type II tanathophoric dysplasia (TD). RESULTS: 2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs. Neither ACH nor HCH occurred in sporadic cases. CONCLUSIONS: Molecular studies in ongoing pregnancies are indicated in cases with an affected parent, a family history with positive molecular studies (maternal anxiety), and when the US finding demonstrates micromelia with a hypoplastic thorax. A protocol for tissues of abortuses should include an X-ray, pathologic anatomy, and genetic studies.


Asunto(s)
Enfermedades del Desarrollo Óseo/diagnóstico , Enfermedades del Desarrollo Óseo/genética , Muestra de la Vellosidad Coriónica , Mutación Puntual , Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos/genética , Ultrasonografía Prenatal , Enfermedades del Desarrollo Óseo/complicaciones , ADN/genética , Femenino , Feto/anomalías , Humanos , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/etiología , Embarazo , Análisis de Secuencia de ADN , Tórax/anomalías , Factores de Tiempo
8.
Rev. Soc. Esp. Dolor ; 12(2): 74-80, mar. 2005. tab
Artículo en Es | IBECS | ID: ibc-038578

RESUMEN

Introducción:El dolor postoperatorio moderado-severo sigue siendoun problema en cirugía ambulatoria, ya que provoca problemasde flujo de pacientes, retrasando el alta de los pacientes,siendo uno de los principales motivos de reingresoen los hospitales, y por tanto un importante indicadorde calidad de estas Unidades. El empleo de técnicas analgésicasinvasivas domiciliarias, en todos sus regímenes,puede controlar el dolor postoperatorio en estas intervencionesy permitir incluirlas en los programas de cirugíaambulatoria.Objetivos:El objetivo de nuestro estudio es valorar la viabilidad y laseguridad de la utilización de bombas de perfusión continuaelastoméricas para la administración de analgesia endovenosacontinua domiciliaria, a la vez que valorar la eficaciaanalgésica y el grado de satisfacción de los pacientesintervenidos de hemorroidectomía en régimen ambulatorio.Material y métodos:Estudio prospectivo simple en 61 pacientes. Una vez intervenidosbajo estrategia de analgesia multimodal, se lescoloca una bomba elastomérica endovenosa a 5 ml.h-1 con16.000 mg de metamizol, 500 mg de tramadol y 16 mg deondansetrón en un reservorio de 275 ml. En el domicilio,la Unidad de Atención Domiciliaria realiza revisiones de laintegridad del sistema infusor y de la vía endovenosa, detecciónde efectos secundarios e incidentes atribuibles alsistema y retiradas precoces durante las 48 horas delpostoperatorio.Resultados:De los 61 pacientes, sólo se registra un caso (1,63%) dedolor severo durante el primer día del postoperatorio. Un81,96% de los pacientes no tienen dolor durante el primerdía, 95% el segundo y 98,35% el tercer día. Un 9,83% delos pacientes precisan rescate con tramadol. Veinte pacientespresentan efectos secundarios atribuibles a los analgésicos.Dos casos de retirada precoz del sistema infusor porintolerancia al tramadol. En un 91,8% de los pacientes semostró un alto grado de satisfacción con el sistema infusory el procedimiento.Conclusión:Nuestro estudio demuestra la viabilidad y seguridad de lautilización de infusores elastoméricos endovenosos comométodo de analgesia postoperatoria, que permiten controlarlos casos de dolor moderado a severo en procedimientosaplicados a la cirugía ambulatoria. Sin embargo se necesitanmás estudios comparativos con técnicas analgésicasconvencionales, así como con diferentes regímenes de infusión


Introduction:Moderate to severe postoperative pain is still a problemin outpatient surgery, since it causes patient flow problemsand delays the discharge of patients, being one of the majorcauses of re-hospitalization and hence a relevant qualityindicator of these Units. The use of home invasive analgesictechniques, in all their regimes, can be effective for themanagement of postoperative pain in these surgical proceduresand allow them to be included in outpatient surgeryprograms.Objectives:The aim of our study was to determine the feasibilityand safety of the use of elastomeric continuous perfusionpumps for the administration of home continuous endovenousanalgesia, as well as to assess analgesic effectivenessand degree of satisfaction of patients undergoing outpatienthemorrhoidectomy. Material and methods:We conducted a simple prospective study in 61 patients.After the surgical procedure was performed under multimodalanalgesia, an elastomeric endovenous pump operatingat 5 ml.h-1 with 16,000 mg of metamizol, 500 mg oftramadol and 16 mg of ondansetron in a 275 ml reservoirwas used. At home, the Home Care Unit checked the perfusionsystem and the endovenous access, detected side effectsand events attributable to the system and withdrewthe system prematurely during the first 48 hours of postoperative.Results:Just 1 out of 61 patients of the study (1.63%) had severepain during the first day of postoperative, compared to81.96% of patients that did not have pain at day 1, 95% atday 2 and 98.35% at day 3. The 9,83% of patients requiredrescue therapy with tramadol and 20 patients reportedside effects attributable to analgesics. There were two casesof early withdrawal of the infusion system because ofintolerance to tramadol. A 91.8% of patients reported ahigh degree of satisfaction with the infusion system and theprocedure.Conclusion:Our study has shown the feasibility and safety of the useof endovenous elastomeric infusion pumps as a method ofpostoperative analgesia that allow to manage cases of moderateor severe pain after outpatient surgical procedures.However, further studies are required to compare this techniquewith conventional analgesic techniques, as well aswith different infusion regimes


Asunto(s)
Humanos , Dolor Postoperatorio/tratamiento farmacológico , Hemorroides/cirugía , Analgesia/métodos , Servicios de Atención a Domicilio Provisto por Hospital , Bombas de Infusión Implantables , Estudios Prospectivos
9.
Prog. diagn. trat. prenat. (Ed. impr.) ; 15(4): 178-189, oct. 2003. ilus, tab, graf
Artículo en Es | IBECS | ID: ibc-31754

RESUMEN

El aislamiento de los eritroblastos fetales presentes en la sangre materna para su posterior estudio representa un prometedor método de diagnóstico prenatal no invasivo.En nuestro laboratorio hemos realizado un estudio poblacional con el que se pretendía realizar una valoración práctica de las técnicas desarrolladas para un diagnóstico prenatal no invasivo. Para el enriquecimiento de las muestras en eritroblastos fetales se empleó el método que se consideró más adecuado para la rutina del laboratorio y para su posterior estudio mediante técnica de FISH. El estudio permitió determinar que la mayor sensibilidad diagnóstica se obtenía en la semana 15 de gestación (76 por ciento), observándose una clara diferencia entre la sensibilidad obtenida en el primer (25 por ciento) y segundo (61,5 por ciento) trimestre de gestación. Distintos grupos están trabajando para modificar las técnicas actuales y así obtener mejores resultados. Sin embargo, desde el punto de vista de una unidad de diagnóstico prenatal existen todavía aspectos que han de resolverse: - No hay un consenso acerca de la mejor semana para realizar el estudio.- Las técnicas son laboriosas y no recuperan un número suficiente de células para el estudio.- La sensibilidad alcanzada no es óptima. - E I coste es muy caro. Por todo ello esta técnica no puede aplicarse todavía a la rutina del diagnóstico prenatal. En el presente artículo, además de presentar nuestros resultados, se discute sobre el estado actual del tema, así como las perspectivas futuras (AU)


Asunto(s)
Embarazo , Femenino , Humanos , Eritroblastosis Fetal/diagnóstico , Diagnóstico Prenatal/métodos , Sangre Fetal , Eritroblastos , Enfermedades Fetales/diagnóstico , Sensibilidad y Especificidad , Aneuploidia , Mosaicismo/genética , Intercambio Materno-Fetal
10.
Rev. Soc. Esp. Dolor ; 10(6): 363-369, ago. 2003.
Artículo en Es | IBECS | ID: ibc-33006

RESUMEN

La aplicación de nuevas técnicas analgésicas en el ámbito de la cirugía ambulatoria puede ser un factor importante para aumentar el número de procedimientos tributarios de realizarse sin ingreso hospitalario. La utilización de regímenes analgésicos multimodales mediante la utilización de nuevos fármacos no opioides y anestésicos locales se ha demostrado eficaz en la disminución de los marcadores del dolor postoperatorio y en la disminución de los requerimientos analgésicos. La analgesia preventiva, aunque discutida, parece tener un lugar en los protocolos de analgesia para cirugía ambulatoria. En casos de dolor postoperatorio severo puede ser útil el empleo de técnicas analgésicas invasivas mediante el mantenimiento de vías endovenosas o subcutáneas para la administración de analgésicos, o la utilización de técnicas regionales continuas para la infusión de anestésicos locales, contando siempre con la supervisión y el apoyo del personal de Unidades de Atención Domiciliaria (AU)


Asunto(s)
Dolor Postoperatorio/tratamiento farmacológico , Analgesia/métodos , Analgesia , Terapia Combinada/métodos , Terapia Combinada , Acetaminofén/administración & dosificación , Acetaminofén/uso terapéutico , Procedimientos Quirúrgicos Ambulatorios , Procedimientos Quirúrgicos Ambulatorios/métodos , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Procedimientos Quirúrgicos Mínimamente Invasivos , Anestesia de Conducción/métodos , Anestesia de Conducción , Protocolos Clínicos/normas , Dolor/tratamiento farmacológico , Clínicas de Dolor , Nociceptores
11.
Prog. diagn. trat. prenat. (Ed. impr.) ; 15(2): 72-77, abr. 2003. ilus, tab, graf
Artículo en Es | IBECS | ID: ibc-31482

RESUMEN

La presencia de ADN fetal en el suero y el plasma de gestante está llevando al desarrollo de diferentes estrategias para realizar diagnóstico prenatal no invasivo. Hasta el momento diversos autores han publicado principalmente resultados en la detección de sexo fetal y factor RhD. Estos datos han motivado que nuestro grupo evalúe esta metodología para su posible aplicación diagnóstica. Hemos obtenido resultados satisfactorios en la determinación de sexo fetal, enfermedades mendelianas de origen paterno (como fibrosis quistica y corea de Huntington), así como en la determinación del factor RhD fetal (AU)


Asunto(s)
Embarazo , Femenino , Humanos , ADN/análisis , Diagnóstico Prenatal/métodos , Fibrosis Quística/diagnóstico , Enfermedad de Huntington/diagnóstico , Enfermedades Fetales/diagnóstico , Reacción en Cadena de la Polimerasa
12.
Prenat Diagn ; 23(3): 232-4, 2003 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-12627425

RESUMEN

The discovery of fetal DNA in maternal plasma from early pregnancies has led to new opportunities for clinical application. In the last few years there have been numerous reported applications, mainly fetal gender and RhD genotyping. The prenatal diagnosis of some inherited genetic diseases such as Huntington disease is also very frequently required in the prenatal diagnosis routine. We have successfully diagnosed, with a non-invasive procedure, an unaffected HD fetus at the 13th week of gestation using fetal DNA from maternal plasma and the quantitative fluorescent PCR method, which is one of the most sensitive ways to detect fetal DNA in maternal plasma at such an early time of gestation.


Asunto(s)
ADN/sangre , Enfermedad de Huntington/diagnóstico , Enfermedad de Huntington/genética , Reacción en Cadena de la Polimerasa , Diagnóstico Prenatal/métodos , Alelos , Muestra de la Vellosidad Coriónica , ADN/análisis , ADN/química , Femenino , Edad Gestacional , Humanos , Enfermedad de Huntington/sangre , Masculino , Embarazo , Secuencias Repetitivas de Ácidos Nucleicos
13.
Prenat Diagn ; 22(10): 946-8, 2002 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-12378583

RESUMEN

OBJECTIVES: Maternal plasma and serum are being used to detect fetal DNA by PCR in order to determine certain conditions such as fetal gender and RhD without invasive procedures. Because of the presence of maternal DNA in plasma, these approaches are limited to paternally inherited disorders or those de novo present in the fetus. We have assessed the possibility of performing the detection of a single-gene disorder such as a fetal paternally inherited Cystic Fibrosis mutation (Q890X) in maternal plasma. METHODS: The analysis was performed at 13 weeks of gestation using DNA extracted from maternal plasma. We used a PCR amplification of the Q890X mutation and a posterior restriction analysis of the PCR product. RESULTS: We were able to detect the presence of the mutation and thus the fetal condition of being a carrier of the paternal mutation. CONCLUSIONS: We have made evident the possibility of detecting an inherited paternal mutation in a non-invasive way at the 13t(hr) weeks of pregnancy. This methodology could be very useful in cases of paternally inherited dominant disorders. The technical improvements in fetal DNA detection and analysis might lead to the development of new applications in the non-invasive prenatal diagnosis field.


Asunto(s)
Fibrosis Quística/genética , Análisis Mutacional de ADN , ADN/sangre , Diagnóstico Prenatal , Electroforesis en Gel de Poliacrilamida , Femenino , Edad Gestacional , Humanos , Masculino , Linaje , Reacción en Cadena de la Polimerasa , Embarazo
15.
Prenat Diagn ; 21(3): 165-70, 2001 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-11260601

RESUMEN

Objectives- Several attempts have been made to determine the gestational period in which the maximum number of fetal cells can be found in maternal blood and consequently which is the best week in which to perform a reliable non-invasive prenatal diagnosis. Most studies conclude that the number of nucleated red blood cells (NRBC) increases in line with gestation, but the number of cells that are fetal in origin (FNRBC) decreases in the third trimester. The aim of the present study was to make a practical comparative evaluation of the first and second trimesters to ascertain the period in which a greater number of FNRBC can be found of the total number of NRBC identified. Methods- Double density gradient and a posterior positive selection (CD71) by magnetic activated cell sorting (MACS) were employed. In the final fraction, erythroblasts were identified using Kleihauer staining and were studied using the fluorescence in situ hybridization (FISH) interphasic technique. Results- There was a significant difference (p<0.05) between the mean number of FNRBC found in the first and second trimesters. Conclusions- The number of FNRBC increases from the first to the second trimester. It appears that the optimum week in which to perform a reliable non-invasive prenatal diagnosis is around the 15th week.


Asunto(s)
Eritroblastos , Sangre Fetal/citología , Edad Gestacional , Hibridación Fluorescente in Situ , Primer Trimestre del Embarazo/sangre , Segundo Trimestre del Embarazo/sangre , Diagnóstico Prenatal/métodos , Adulto , Femenino , Humanos , Persona de Mediana Edad , Embarazo
16.
Rev Esp Cardiol ; 53(11): 1474-95, 2000 Nov.
Artículo en Español | MEDLINE | ID: mdl-11084006

RESUMEN

Maternal adaptation to pregnancy includes reproductive hormone interaction plasma, volume changes with an increase in total body water, vascular alterations with a decrease in systemic resistance and modifications associated with hypercoagulability. These explain, in part, the appearance of signs and symptoms, even in a normal pregnant woman, that are difficult to distinguish from those occurring in heart disease and why some cardiac abnormalities are not well tolerated during pregnancy. Cardiovascular abnormalities are considered the first non-obstetric cause of morbidity and mortality during pregnancy. Rheumatic and congenital heart diseases are currently the most frequent cardiopathy found in women of childbearing age, followed by hypertension, coronary artery disease and arrhythmia. Although pregnancy is well tolerated by most women with heart disease, there are some cardiovascular abnormalities which place the mother and the infant at extremely high risk: patients with congestive heart failure and severe cardiac dysfunction, pulmonary hypertension, cyanotic congenital heart disease, Marfan's syndrome, severe obstructive lesions of the left side of the heart, patients with prosthetic cardiac valves and antecedents of peripartum cardiomyopathy should be encouraged to avoid pregnancy and the interruption of pregnancy may be advisable in cases with great risk of disability or death. The most severe cardiopathies significantly increase the risk of fetal loss and the presence of a congenital cardiac abnormality in either parent increases the risk of congenital cardiac disease in the fetus. Medical care must be initiated early, prior to conception and women with cardiopathy should be informed of the possible risks of pregnancy to both the mother and fetus.


Asunto(s)
Complicaciones Cardiovasculares del Embarazo/terapia , Factores de Edad , Anticoagulantes/uso terapéutico , Cardiotónicos/uso terapéutico , Fenómenos Fisiológicos Cardiovasculares , Endocarditis Bacteriana/prevención & control , Femenino , Enfermedades Fetales/epidemiología , Enfermedades Fetales/etiología , Cardiopatías Congénitas/complicaciones , Enfermedades de las Válvulas Cardíacas/terapia , Prótesis Valvulares Cardíacas , Humanos , Embarazo , Factores de Riesgo
17.
Eur J Endocrinol ; 142(6): 619, 2000 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-10822225

RESUMEN

OBJECTIVE: The aim of this study was to prove the utility of GnRH analogues for the suppression of androgen secretion in a postmenopausal woman with a suspected virilizing ovarian tumour. DESIGN AND METHODS: We present a case of a 72-year-old woman with virilization of recent onset. Hormonal studies revealed a fourfold increase in serum testosterone levels, normal dehydroepiandrosterone sulphate concentrations and high levels of serum 17-hydroxyprogesterone levels. Computed axial tomography scan of the ovaries was normal and the adrenal glands showed a discrete enlargement. The long-acting GnRH analogue, triptorelin, was injected initially (3.75mg i.m.) and serum hormone levels were measured weekly throughout one month. RESULTS: GnRH produced a decrease in serum testosterone levels to normal values, in parallel with the suppression of serum LH and FSH concentrations. The patient was treated for three months with triptorelin and she experienced an amelioration of the hyperandrogenic symptoms. In order to achieve a diagnosis, the patient was submitted to a laparotomy that revealed a small hilus cell tumour in the left ovary. CONCLUSION: GnRH analogues may offer a good therapeutic option in some states of gonadotrophin-dependent hyperandrogenism of ovarian origin.


Asunto(s)
Hormona Liberadora de Gonadotropina/análogos & derivados , Hiperandrogenismo/tratamiento farmacológico , Hiperandrogenismo/etiología , Neoplasias de Tejido Gonadal/complicaciones , Neoplasias Ováricas/complicaciones , Posmenopausia , Pamoato de Triptorelina/uso terapéutico , Anciano , Femenino , Hirsutismo/etiología , Humanos , Hiperandrogenismo/sangre , Testosterona/sangre
18.
Fetal Diagn Ther ; 15(2): 97-101, 2000.
Artículo en Inglés | MEDLINE | ID: mdl-10720874

RESUMEN

OBJECTIVE: To describe the ultrasound findings and its relationship with the cytogenetic study and the origin of the extra haploid chromosome set in four 69,XXX cases. METHODS: Four pregnant women were referred because of abnormal 2nd trimester ultrasound. Karytoypes, FISH and DNA analysis were performed. RESULTS: All cases presented asymmetrical intrauterine growth retardation, marked oligohydramnios and placental alterations and showed a 69,XXX karyotype. In three cases, DNA analysis allowed to establish the origin of the extra haploid chromosome set. CONCLUSIONS: At least three fetuses had a maternal extra haploid chromosome set. Thus, it has been possible to establish the main ultrasonographic markers and to observe the survival of the fetus until the second trimester when they have a maternal origin.


Asunto(s)
Análisis Citogenético , ADN/análisis , Edad Gestacional , Poliploidía , Ultrasonografía Prenatal , Cromosoma X , Adulto , Líquido Amniótico/química , Gonadotropina Coriónica Humana de Subunidad beta/análisis , Gonadotropina Coriónica Humana de Subunidad beta/sangre , Muestra de la Vellosidad Coriónica , Cromosomas Humanos Par 18 , Femenino , Retardo del Crecimiento Fetal/genética , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Oligohidramnios , Embarazo , alfa-Fetoproteínas/análisis
19.
Obstet Gynecol ; 95(2): 284-90, 2000 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-10674595

RESUMEN

OBJECTIVE: To evaluate the effect of 17beta-estradiol (E2) on the ability of human neutrophils to produce nitric oxide (NO) and its effects on platelet activation. METHODS: The expression of neuronal nitric oxide synthase (nNOS) protein and the formation of NO by 17beta-E2-incubated neutrophils from men were studied in vitro (ten male volunteers, no medical-surgical antecedents, aged 25-45 years). Platelet aggregometry and changes in cyclic guanosine monophospate (cGMP) levels were used to bioassay the functionality of NO released from neutrophils. RESULTS: Incubation of neutrophils derived from men with physiologic concentrations of 17beta-E2 (10(-10) to 10(-8) mol/L) enhanced the expression of nNOS protein. 17Beta-E2-incubated neutrophils also showed a significant increase in their ability to generate NO measured by the conversion of [3H]-L-arginine to [3H]-L-citrulline. Furthermore, 17beta-E2-incubated neutrophils showed a greater ability to prevent adenosine diphosphate (ADP)-induced platelet activation. Moreover, increased levels of cGMP were found in the coincubation of platelets with 17beta-E2-treated neutrophils. CONCLUSION: These results suggest that 17beta-E2 increases the ability of human neutrophils to produce NO and therefore may contribute to cardiovascular disease protection.


Asunto(s)
Estradiol/farmacología , Neutrófilos/efectos de los fármacos , Óxido Nítrico Sintasa/efectos de los fármacos , Óxido Nítrico/biosíntesis , Activación Plaquetaria/efectos de los fármacos , Adulto , Western Blotting , Enfermedades Cardiovasculares/prevención & control , GMP Cíclico/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Neutrófilos/enzimología , Neutrófilos/metabolismo , Óxido Nítrico Sintasa/biosíntesis , Óxido Nítrico Sintasa de Tipo I , Valores de Referencia
20.
Circ Res ; 85(11): 1020-6, 1999 Nov 26.
Artículo en Inglés | MEDLINE | ID: mdl-10571532

RESUMEN

Recent studies have postulated the contribution of nitric oxide (NO) released by the endothelium to the beneficial effects of estrogen. Despite a neuronal-type NO synthase (nNOS) described in neutrophils, less is known about the effect of estrogen in these cells. The aim of the present study was to analyze the expression of nNOS protein in human neutrophils under different estrogenic conditions. We first analyzed nNOS expression in neutrophils obtained from premenopausal women. During the first 2 days of the follicular phase (low circulating estrogen concentrations), nNOS expression in neutrophils was reduced with respect to that found in neutrophils obtained from the same donors during the ovulatory phase (high circulating estrogen concentrations). Moreover, the expression of nNOS protein in neutrophils obtained from postmenopausal women after transdermal estrogen therapy was markedly enhanced with respect to that observed before the treatment. In vitro incubation of neutrophils derived from men for 6 hours with 17beta-estradiol (10(-10) to 10(-8) mol/L) upregulated the expression of nNOS protein. The 17beta-estradiol receptor antagonists, tamoxifen (10(-8) mol/L) and ICI 182780 (10(-8) mol/L), inhibited the upregulation of nNOS protein induced by 17beta-estradiol. The putative functional implication was denoted by a reduced expression of the CD18 antigen on the surface of 17beta-estradiol-incubated neutrophils, which was accompanied by a decreased adhesive capacity. Both effects were prevented by an NO antagonist. In conclusion, the in vivo levels of circulating estrogen concentrations seem to be associated with the level of nNOS protein expression in neutrophils from women. Moreover, low doses of 17beta-estradiol upregulate nNOS protein expression in neutrophils from men. The increased ability of 17beta-estradiol-incubated neutrophils derived from men to produce NO reduced their adhesive properties.


Asunto(s)
Estradiol/farmacología , Terapia de Reemplazo de Hormonas , Ciclo Menstrual/fisiología , Neutrófilos/efectos de los fármacos , Óxido Nítrico Sintasa/biosíntesis , Óxido Nítrico/biosíntesis , Caracteres Sexuales , Adulto , Anciano , Antígenos CD18/metabolismo , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/metabolismo , Enfermedades Cardiovasculares/prevención & control , Adhesión Celular/efectos de los fármacos , Inducción Enzimática/efectos de los fármacos , Estradiol/análogos & derivados , Antagonistas de Estrógenos/farmacología , Femenino , Fulvestrant , Humanos , Hormona Luteinizante/sangre , Masculino , Persona de Mediana Edad , Neutrófilos/enzimología , Óxido Nítrico Sintasa/genética , Óxido Nítrico Sintasa de Tipo I , Posmenopausia , Premenopausia , Receptores de Estrógenos/efectos de los fármacos , Tamoxifeno/farmacología , omega-N-Metilarginina/farmacología
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