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1.
Nanomaterials (Basel) ; 12(23)2022 Dec 02.
Artículo en Inglés | MEDLINE | ID: mdl-36500910

RESUMEN

In this work, WO3 nanostructures were synthesized with different complexing agents (0.05 M H2O2 and 0.1 M citric acid) and annealing conditions (400 °C, 500 °C and 600 °C) to obtain optimal WO3 nanostructures to use them as a photoanode in the photoelectrochemical (PEC) degradation of an endocrine disruptor chemical. These nanostructures were studied morphologically by a field emission scanning electron microscope. X-ray photoelectron spectroscopy was performed to provide information of the electronic states of the nanostructures. The crystallinity of the samples was observed by a confocal Raman laser microscope and X-ray diffraction. Furthermore, photoelectrochemical measurements (photostability, photoelectrochemical impedance spectroscopy, Mott-Schottky and water-splitting test) were also performed using a solar simulator with AM 1.5 conditions at 100 mW·cm-2. Once the optimal nanostructure was obtained (citric acid 0.01 M at an annealing temperature of 600 °C), the PEC degradation of methylparaben (CO 10 ppm) was carried out. It was followed by ultra-high-performance liquid chromatography and mass spectrometry, which allowed to obtain the concentration of the contaminant during degradation and the identification of degradation intermediates. The optimized nanostructure was proved to be an efficient photocatalyst since the degradation of methylparaben was performed in less than 4 h and the kinetic coefficient of degradation was 0.02 min-1.

2.
O.F.I.L ; 30(1): 56-59, 2020. graf
Artículo en Español | IBECS | ID: ibc-199404

RESUMEN

INTRODUCCIÓN: Una cadena de frío de calidad es aquella en la que se aseguran de manera integral todos los elementos necesarios para su adecuado desempeño. OBJETIVOS: Diseñar un sistema de gestión integral de la cadena de frío de la Empresa Comercializadora y Distribuidora de Medicamentos EMCOMED, que permita garantizar la calidad de las operaciones de almacenamiento y transportación, y preservar la integridad de los productos farmacéuticos termosensibles durante su manipulación. MÉTODOS: Se realizó una búsqueda bibliográfica para seleccionar bibliografía actualizada y de rigor científico aplicable a la gestión de calidad de la cadena de frío. Se aplicó la técnica del diagrama causa-efecto para establecer las variables requeridas para el manejo integral de la cadena de frío y elaborar el procedimiento normalizado de operación (PNO) aplicable a las diferentes operaciones de la empresa. RESULTADOS: Se identificaron los cuatro elementos principales que permiten asegurar integralmente la calidad de la cadena de frío de EMCOMED. Se elaboró el PNO "Directrices para el manejo integral de la cadena de frío". CONCLUSIONES: El sistema de gestión de la cadena de frío de la empresa EMCOMED está basado en el aseguramiento de cuatro elementos principales. Las actividades necesarias para garantizar el manejo integral, están documentadas en un PNO. Su aplicación práctica reporta beneficios en los órdenes económico y social; y puede ser tomado como referente por empresas afines dedicadas a la distribución de productos termosensibles


INTRODUCTION: A solid cold chain is one that entirely assures all the necessary elements for an adequate performance. OBJECTIVE: To design a cold chain management system for the Cuban Wholesale Distribution Company of Pharmaceuticals EMCOMED that guarantees the quality of warehousing and transportation operations and the preservation of product integrity during handling. METHODS: A search was conducted to select updated bibliography with scientific rigor concerning the cold chain quality management system to be used as a reference. The cause-effect technique was applied to establish the necessary elements for the cold chain integral management and to draw up a standard operation procedure (SOP). RESULTS: Four main elements were identified to be necessary for establishing the cold chain management system of the company. The SOP "Guidelines for the cold chain integral management" was drawn up. CONCLUSIONS: The cold chain management system of EMCOMED is based on four main elements. The SOP drawn up, sets out the necessary activities for the cold chain quality assurance. Its practical application brings economic and social benefits to the company and it could be an example to other distribution companies of temperature sensitive products


Asunto(s)
Humanos , Almacenaje de Medicamentos/métodos , Refrigeración/métodos , Servicios Farmacéuticos/organización & administración , Almacenaje de Medicamentos/normas , Refrigeración/normas , Vacunas , 34002 , Cuba
3.
Carbohydr Polym ; 147: 60-68, 2016 08 20.
Artículo en Inglés | MEDLINE | ID: mdl-27178909

RESUMEN

In this work, poly(lactic acid), PLA and thermoplastic starch, TPS blends (with a fixed content of 30wt.% TPS) were prepared by melt extrusion process to increase the low ductile properties of PLA. The TPS used contains an aliphatic/aromatic biodegradable polyester (AAPE) that provides good resistance to aging and moisture. This blend provides slightly improved ductile properties with an increase in elongation at break of 21.5% but phase separation is observed due to the lack of strong interactions between the two polymers. Small amounts of maleinized linseed oil (MLO) can positively contribute to improve the ductile properties of these blends by a combined plasticizing-compatibilizing effect. The elongation at break increases over 160% with the only addition of 6phr MLO. One of the evidence of the plasticizing-compatibilizing effect provided by MLO is the change in the glass transition temperature (Tg) with a decrease of about 10°C. Field emission scanning electron microscopy (FESEM) of PLA-TPS blends with varying amounts of maleinized linseed oil also suggests an increase in compatibility.


Asunto(s)
Aceite de Linaza/química , Poliésteres/química , Almidón/química , Microscopía Electrónica de Rastreo , Almidón/ultraestructura
5.
An Sist Sanit Navar ; 35(1): 121-5, 2012.
Artículo en Español | MEDLINE | ID: mdl-22552133

RESUMEN

We present the case of a 34 year-old male, who was diagnosed with a malign pheochromocytoma and who was treated with left laparascopic suprarenalectomy. This is a neoplasia of the chromoffin cells with a prevalence of two cases per million inhabitants, which generally causes the typical symptoms of episodic freeing of catecholamines. We describe the case's form of presentation, which began with successive episodes of intense abdominal pain on the left side. In the abdominal pelvic ultrasound and abdominal CT, a mass of 6.5 cm diameter was objectified, dependent on the left suprarenal gland. High levels of metanefrines and catecholamines were evident in the urine. A total left laparoscopic adrenalectomy was carried out. The pathological anatomy showed malign pheochromocytoma.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales/diagnóstico , Feocromocitoma/diagnóstico , Adulto , Humanos , Masculino
6.
An. sist. sanit. Navar ; 35(1): 121-125, ene.-abr. 2012. ilus
Artículo en Español | IBECS | ID: ibc-99409

RESUMEN

Se presenta el caso de un varón de 34 años de edad, a quien se diagnosticó un feocromocitoma maligno y fue tratado con suprarrenalectomía izquierda lapararoscópica. Se trata de una neoplasia de las células cromafines con una prevalencia de dos casos por millón de habitantes, que, generalmente, causa los síntomas típicos de liberación episódica de catecolaminas. Se describe la forma de presentación del caso, que debuta con episodios sucesivos de dolorimiento abdominal intenso en flanco izdo. En la ecografía abdominopélvica y TAC abdominal, se objetiva una masa de 6,5 cms de diámetro, dependiente de la glándula suprarrenal izda. Se evidencian niveles elevados de metanefrinas ycatecolaminas en orina. Se realiza adrenalectomía total izquierda laparoscópica. La anatomía patológica evidencia feocromocitoma maligno(AU)


We present the case of a 34 year-old male, who was diagnosed with a malign pheochromocytoma and who was treated with left laparascopic suprarenalectomy. This is a neoplasia of the chromoff in cells with a prevalence of two cases per million inhabitants, which generally causes the typical symptoms of episodic freeing of catecholamines. We describe the case’s form of presentation, which began with successive episodes of intense abdominal pain on the left side. In the abdominal pelvic ultrasound and abdominal CT, a mass of 6.5 cm diameter was objectified, dependent on the left suprarenal gland. High levels of metanefrines and catecholamines were evident in the urine. A total left laparoscopic adrenalectomy was carried out. The pathological anatomy showed malign pheochromocytoma(AU)


Asunto(s)
Humanos , Masculino , Adulto , Feocromocitoma/cirugía , Adrenalectomía , Neoplasias de las Glándulas Suprarrenales/cirugía , Catecolaminas/orina , Metanefrina/orina , Laparoscopía
7.
Eur J Neurol ; 19(8): 1100-7, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22360775

RESUMEN

BACKGROUND AND PURPOSE: White matter hyperintensities (WMHs) detected by magnetic resonance imaging (MRI) of the brain are associated with dementia and cognitive impairment in the general population and in Alzheimer's disease. Their effect in cognitive decline and dementia associated with Parkinson's disease (PD) is still unclear. METHODS: We studied the relationship between WMHs and cognitive state in 111 patients with PD classified as cognitively normal (n = 39), with a mild cognitive impairment (MCI) (n = 46) or dementia (n = 26), in a cross-sectional and follow-up study. Cognitive state was evaluated with a comprehensive neuropsychological battery, and WMHs were identified in FLAIR and T2-weighted MRI. The burden of WMHs was rated using the Scheltens scale. RESULTS: No differences in WMHs were found between the three groups in the cross-sectional study. A negative correlation was observed between semantic fluency and the subscore for WMHs in the frontal lobe. Of the 36 non-demented patients re-evaluated after a mean follow-up of 30 months, three patients converted into MCI and 5 into dementia. Progression of periventricular WMHs was associated with an increased conversion to dementia. A marginal association between the increase in total WMHs burden and worsening in the Mini Mental State Examination was encountered. CONCLUSIONS: White matter hyperintensities do not influence the cognitive status of patients with PD. Frontal WMHs have a negative impact on semantic fluency. Brain vascular burden may have an effect on cognitive impairment in patients with PD as WMHs increase overtime might increase the risk of conversion to dementia. This finding needs further confirmation in larger prospective studies.


Asunto(s)
Encéfalo/patología , Trastornos del Conocimiento/etiología , Trastornos del Conocimiento/patología , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/patología , Anciano , Encéfalo/irrigación sanguínea , Disfunción Cognitiva/patología , Estudios Transversales , Demencia/patología , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Pruebas Neuropsicológicas
8.
Actas Urol Esp ; 34(10): 893-7, 2010 Nov.
Artículo en Español | MEDLINE | ID: mdl-21159287

RESUMEN

OBJECTIVE: To evaluate the complications of urinary incontinence (UI) surgery with mini-sling system. Describe its diagnosis and management. MATERIAL AND METHOD: We make a descriptive analysis of the complications of the surgery in a group of 155 women with UI surgically treated with mini-sling system (50 TVT-Secur and 105 MiniArc) from October 2006 to November 2008. All patients were evaluated with clinical history, physical examination and two questionnaires of QoL (ICIQ-SF and EQ-5D). When urethral obstruction was suspected, we included urineculture, post-void residual urine measurement and urodynamics. The complications were grouped into three categories: intraoperatory, early (within de first month after surgery) and late complications (after a month). We use the SPSS program (V 14.0) for statistical analysis of the results. RESULTS: The average age was 56 years (range 33-82) and 180 days for the following-up (range 26-817). We had a complication rate of 20% (22% TVT-Secur, 17% MiniArc). We reported one intraoperatory complication corresponding to a bladder perforation (0.64%), managed conservatively with catheterization. All early complications were reported in the MiniArc group: one obturator fossa hematoma (0.64%) spontaneously resolved, groin pain in 4 patients (2.5%) successfully treated with NSAIDs and one urethral obstruction (0.64%) that required mesh cutting. Late complications included: 8 vaginal erosions (5%), 4 required tape excision and vaginal wall closure; 2 were treated with vaginal estrogens, and the other 2 were asymptomatic so we did nothing. 6 patients (3.8%) showed urethral obstruction: we performed mesh cutting in 5, whereas one patient improved with intermittent catheterization. Urge symptoms were reported in 10 patients (6.45%) and successfully managed with anticholinergic agents. 2 patients suffered from recurrent infections (1.3%) confirmed by antibiogram, treating isolated episodes. CONCLUSIONS: Urinary incontinence surgery with mini-sling system is not free of complications (20%). Most of them are mild and can be successfully treated conservatively.


Asunto(s)
Cabestrillo Suburetral/efectos adversos , Incontinencia Urinaria/cirugía , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Diseño de Prótesis , Estudios Retrospectivos , Factores de Tiempo
9.
Actas urol. esp ; 34(10): 893-897, nov.-dic. 2010. tab
Artículo en Español | IBECS | ID: ibc-83432

RESUMEN

Objetivo: Evaluar las complicaciones de la cirugía antiincontinencia con minicintas, así como describir su diagnóstico y manejo. Material y métodos: Realizamos un análisis descriptivo de las complicaciones en un grupo de 155 mujeres con incontinencia urinaria intervenidas con minicintas (50 TVT-Secur y 105 MiniArc) entre octubre de 2006 y noviembre de 2008. Durante el seguimiento, los controles incluyeron anamnesis, exploración física y cuestionarios de calidad de vida (ICIQ-SF y EQ-5D), incluyendo uroflujometría con residuo posmiccional, urodinámica y urocultivo ante sospecha de obstrucción. Para analizar las complicaciones, fueron clasificadas en intraoperatorias, precoces (primer mes tras la cirugía) y tardías (pasado un mes). El análisis estadístico de los resultados lo realizamos mediante el programa informático SPSS (V 14.0). Resultados: La mediana de edad de las pacientes estudiadas fue de 56 años (rango 33–82). La mediana de seguimiento fue de 180 días (26–817). La tasa de complicaciones fue del 20% (el 22% para TVT-Secur y el 17% para MiniArc). Como complicaciones intraoperatorias registramos una perforación vesical con TVT-Secur (0,64%), que se trató con sondaje vesical. Las complicaciones precoces, todas registradas en el grupo de MiniArc, fueron un hematoma en la fosa obturatriz (0,64%) que evolucionó a la curación, dolor inguinal en 4 pacientes (2,5%) tratados con AINE y obstrucción uretral en un caso (0,64%) que precisó corte de la malla. Las complicaciones tardías incluyeron 8 erosiones vaginales (5%), 4 requirieron exéresis del material y cierre de la pared vaginal, 2 fueron tratadas con estrógenos vaginales y en 2 pacientes asintomáticas optamos por abstención terapéutica. Cinco pacientes presentaron dificultad miccional (3,22%): 4 precisaron corte de la cinta por obstrucción y una paciente mejoró con autocateterismos. La urgencia de novo en 10 mujeres (6,45%) se trató con éxito con anticolinérgicos. Dos pacientes presentaron ITU de repetición (1,3%), tratando los episodios aisladamente. Conclusiones: La cirugía de incontinencia urinaria con minicintas no está exenta de complicaciones (20%), la mayoría son leves y con posibilidad de manejo con éxito de forma conservadora (AU)


Objective: To evaluate the complications of urinary incontinence (UI) surgery with mini-sling system. Describe its diagnosis and management. Material and method: We make a descriptive analysis of the complications of the surgery in a group of 155 women with UI surgically treated with minisling system (50 TVT-Secur and 105 MiniArc) from October 2006 to November 2008. All patients were evaluated with clinical history, physical examination and two questionnaires of QoL (ICIQ-SF and EQ-5D). When urethral obstruction was suspected, we included urineculture, post-void residual urine measurement and urodinamycs. The complications were grouped into three cathegories: intraoperatory, early (within de first month after surgery) and late complications (after a month). We use the SPSS program (V 14.0) for statistical analysis of the results. Results: The average age was 56 years (range 33–82) and 180 days for the following-up (range 26–817). We had a complication rate of 20% (22% TVT-Secur, 17% MiniArc). We reported one intraoperatory complication corresponding to a bladder perforation (0.64%), managed conservatively with catheterization. All early complications were reported in the MiniArc group: one obturator fossa hematoma (0.64%) spontaneously resolved, groin pain in 4 patients (2.5%) successfully treated with NSAIDs and one urethral obstruction (0.64%) that required mesh cutting. Late complications included: 8 vaginal erosions (5%), 4 required tape excison and vaginal wall closure; 2 were treated with vaginal estrogens, and the other 2 were asymptomatic so we did nothing. 6 patients (3.8%) showed urethral obstruction: we performed mesh cutting in 5, whereas one patient improved with intermittent catheterization. Urge symptoms were reported in 10 patients (6.45%) and successfully managed with anticholinergic agents. 2 patients suffered from recurrent infections (1.3%) confirmed by antibiogram, treating isolated episodes. Conclusions: Urinary incontinence surgery with mini-sling system is not free of complications (20%). Most of them are mild and can be successfully treated conservatively (AU)


Asunto(s)
Humanos , Femenino , Incontinencia Urinaria/cirugía , Dispositivos de Fijación Quirúrgicos , Complicaciones Intraoperatorias/epidemiología , Resultado del Tratamiento , Recuperación de la Función
10.
Actas urol. esp ; 34(9): 802-805, oct. 2010. tab
Artículo en Español | IBECS | ID: ibc-83154

RESUMEN

Introducción: Presentamos un estudio retrospectivo sobre los resultados obtenidos por nuestro servicio en el tratamiento de la incontinencia urinaria de esfuerzo masculina con el sistema REMEEX®. Material y métodos: Entre febrero de 2007 y diciembre de 2009 se intervinieron con el sistema REMEEX® 14 pacientes varones diagnosticados de incontinencia urinaria de esfuerzo moderada-severa. El origen de la incontinencia fue secundario a prostatectomía radical abierta (n=9), laparoscópica (n=4) y RTU prostática (n=1). Evaluamos las complicaciones obtenidas en tres grupos: intraoperatorias, precoces (menos de 1 mes) y tardías (más de 1 mes). Evaluamos el estado de los pacientes tras 1, 3, 6 y 12 meses de seguimiento. Resultados: La mediana de edad fue de 68,5 años (rango: 62–71). El tiempo mediano de seguimiento fue de 18,6 meses (rango: 10,1–35,2). La media de reajustes fue de 3,7 (rango: 1–6). Un total de 12 pacientes fue reajustado en el postoperatorio inmediato (24–72h tras la intervención). En tres ocasiones (21,4%) fue necesario retirar todo el sistema, uno por infección precoz y dos porque no deseaban más reajustes. La complicación intraoperatoria más frecuente fue la perforación vesical con 4 casos (28,5%). La complicación precoz más encontrada fueron 5 episodios de retención aguda de orina (35,7%). Al año, un 41,7% de los pacientes está totalmente continente (5/12) y un 33,3% presenta leves escapes (4/12). Conclusiones: El sistema REMEEX® para la incontinencia urinaria masculina, según nuestra experiencia, presenta un porcentaje de éxito al año (pacientes continentes o con mínimos escapes) del 75%, con una alta incidencia de complicaciones menores.Los reajustes, sobre todo durante los primeros seis meses, son frecuentes y es necesario un estrecho seguimiento. Necesitamos trabajos que evalúen la efectividad de este sistema a más largo plazo (AU)


Introduction: We evaluate the effectiveness of REMEEX® (readjustable sling) for the treatment of male urinary stress incontinence (SUI). Materials and method: Between February 2007 and December 2009, 14 male patients with mild to severe SUI were operated with the use of REMEEX® system. The origin of incontinence was radical open prostatectomy (n=9), laparoscopic prostatectomy (n=4) and TUR (n=1). We evaluate postoperatively complications in three groups: intraoperatively, early complications (before 1 month) and late complications (after 1 month). Follow up was done at 1, 3, 6 and 12 months after intervention. Results: The mean age was 68,5 years (range: 62–71). The average follow-up time was 18,6 months (range: 10,1–35,2). The mean of readjustment was 3,7 (range: 1–6). Twelve patients were readjusted during the early period (24–72h after intervention). The mesh was removed in 3 cases (21,4%) owing to infection in one and the others because patients didn't want more system readjustment. There were four (28,5%) intraoperative bladder perforations. The early complication more frequent was acute urinary retention with five cases (35,7%). To the year of follow-up 41,7% of the patients are totally continent (5/12) and 33,3% presents light urinary incontinence (4/12). Conclusions: The REMEEX® system for the treatment of male SUI presents (in our experience) a 75% of good results (continent patients or patients with light urinary incontinence) at the year of follow-up with a high rate of light complications. Readjustment are frequent at the first six months after intervention and it′s necessary an intense follow-up. We need more studies that evaluate the long-term efficiency of this system (AU)


Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Anciano , Incontinencia Urinaria de Esfuerzo/cirugía , Complicaciones Posoperatorias/cirugía , Mallas Quirúrgicas , Incontinencia Urinaria de Esfuerzo/etiología , Prostatectomía/efectos adversos , Estudios Retrospectivos
11.
Actas Urol Esp ; 34(9): 802-5, 2010 Oct.
Artículo en Español | MEDLINE | ID: mdl-20843459

RESUMEN

INTRODUCTION: We evaluate the effectiveness of REMEEX® (readjustable sling) for the treatment of male urinary stress incontinence (SUI). MATERIALS AND METHOD: Between February 2007 and December 2009, 14 male patients with mild to severe SUI were operated with the use of REMEEX® system. The origin of incontinence was radical open prostatectomy (n=9), laparoscopic prostatectomy (n=4) and TUR (n=1). We evaluate postoperatively complications in three groups: intraoperatively, early complications (before 1 month) and late complications (after 1 month). Follow up was done at 1, 3, 6 and 12 months after intervention. RESULTS: The mean age was 68,5 years (range: 62-71). The average follow-up time was 18,6 months (range: 10,1-35,2). The mean of readjustment was 3,7 (range: 1-6). Twelve patients were readjusted during the early period (24-72h after intervention). The mesh was removed in 3 cases (21,4%) owing to infection in one and the others because patients didn't want more system readjustment. There were four (28,5%) intraoperative bladder perforations. The early complication more frequent was acute urinary retention with five cases (35,7%). To the year of follow-up 41,7% of the patients are totally continent (5/12) and 33,3% presents light urinary incontinence (4/12). CONCLUSIONS: The REMEEX® system for the treatment of male SUI presents (in our experience) a 75% of good results (continent patients or patients with light urinary incontinence) at the year of follow-up with a high rate of light complications. Readjustment are frequent at the first six months after intervention and it's necessary an intense follow-up. We need more studies that evaluate the long-term efficiency of this system.


Asunto(s)
Cabestrillo Suburetral , Incontinencia Urinaria de Esfuerzo/cirugía , Anciano , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
15.
Clin Chim Acta ; 304(1-2): 143-6, 2001 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-11165210

RESUMEN

Several clinical laboratories in different regions of Spain have shared the search for reference individuals and the production of reference values for quantities concerning thyrotropin, non-protein bound thyroxine, triiodothyronine, cobalamines and folates, using an Elecsys 2010 analyser. All the logistic work has been done in co-operation with the supplier of the analyser (Roche Diagnostics España, S.L., Barcelona). The reference limits produced in the virtual laboratory are in fact derived from the blend of reference values obtained by each laboratory. The multicentric reference limits were estimated according to the recommendations of the International Federation of Clinical Chemistry. The work done represents a model of co-operation between the in vitro diagnostic industry and clinical laboratories for the production of reference values.


Asunto(s)
Valores de Referencia , Estándares de Referencia
16.
Rev Neurol ; 26(154): 905-11, 1998 Jun.
Artículo en Español | MEDLINE | ID: mdl-9658457

RESUMEN

INTRODUCTION: Limb Girdle Muscular Dystrophy type 2C (LGMD2C) is an autosomal recessive dystrophy due to the deficit of gamma-sarcoglycan, one of the proteins of the dystrophin-associated proteins complex (DAP). A new mutation in the gamma-sarcoglycan gene, 13q12, has been described recently and is exclusive of the gypsy community. OBJECTIVE: To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y. MATERIAL AND METHODS: We describe a large gypsy family with the C283Y mutation and eleven affected patients. We have performed an extensive clinical and pathological study with immunohistochemistry and Western blot analyses in the eleven patients and a genetic study of a total of twenty-seven members of the family. RESULTS: The patients presented a severe muscular dystrophy with a dystrophic pattern in the muscle biopsy, normal immunolabeling for dystrophin, very weak for alpha-, beta- and delta-sarcoglycan and absent for gamma-sarcoglycan. These eleven patients were found to be homozygous for the mutation and twelve other members of the family, heterozygous. CONCLUSIONS: The clinical picture and the evolution of the disease herein described is similar to that observed in DMD. Two fundamental differences were found: the autosomal recessive mode of inheritance, and the normal immunohistochemistry and immunoblot for dystrophin in the skeletal muscle.


Asunto(s)
Cromosomas Humanos Par 13/genética , Proteínas del Citoesqueleto/deficiencia , Glicoproteínas de Membrana/deficiencia , Distrofias Musculares/genética , Mutación Puntual , Adolescente , Adulto , Biopsia , Niño , Preescolar , Consanguinidad , Proteínas del Citoesqueleto/genética , Proteínas del Citoesqueleto/metabolismo , Distrofina/análisis , Electromiografía , Femenino , Genes Recesivos , Genotipo , Humanos , Masculino , Glicoproteínas de Membrana/genética , Glicoproteínas de Membrana/metabolismo , Músculo Esquelético/química , Músculo Esquelético/patología , Distrofias Musculares/etnología , Distrofias Musculares/metabolismo , Distrofias Musculares/patología , Linaje , Fenotipo , Romaní/genética , Sarcoglicanos , Escoliosis/etnología , Escoliosis/genética
17.
Rev Neurol ; 26(154): 974-8, 1998 Jun.
Artículo en Español | MEDLINE | ID: mdl-9658471

RESUMEN

INTRODUCTION: Orthostatic hypotension (OH) symptoms are the most frequent reason for patients to undergo an autonomic examination. The incidence of these symptoms is greater in two groups: young people with neurally mediated syncope, and adults older than 60 years, all who have normal results in the EKG and EEG test. The baroreflex afferents induce a continuous blood pressure adjustment through the heart rate variation. There are functional changes with aging which reduce this baroreflex sensitivity and therefore the accommodation to the haemodynamic requirements is frequently impaired. A number of no neurogenic triggers can be implicated in the development of OH symptoms such as electrolytic disorders, arrhythmia with low stroke volume and drugs side effects. MATERIAL AND METHODS: To study the influence of these factors in the elderly suffering from OH, we reviewed patients older than 60 years sent to our laboratory during the last three years. In 40 out of 207 cases we found the existence of some of the above mentioned factors as possible trigger of the symptoms, since no autonomic abnormality was present. After arrhythmia correction, in two cases, and the pharmacologic agent suppression, in four more patients, symptoms disappeared and no OH was found in a second tilting test. OH is a frequent problem in the elderly and requires a careful review of the numerous causes that could contribute to develop the symptoms. CONCLUSIONS: To take the proper therapeutic decision, a long term monitoring seems to be necessary for the main parameters: blood pressure and EKG.


Asunto(s)
Barorreflejo/fisiología , Hipotensión Ortostática/etiología , Anciano , Envejecimiento/fisiología , Antidepresivos/efectos adversos , Antidepresivos/farmacología , Arritmias Cardíacas/complicaciones , Diuréticos/efectos adversos , Sinergismo Farmacológico , Femenino , Humanos , Hipertensión/complicaciones , Hipotensión Ortostática/inducido químicamente , Hipotensión Ortostática/fisiopatología , Persona de Mediana Edad , Reflejo Anormal , Estudios Retrospectivos , Pruebas de Mesa Inclinada , Vasodilatadores/efectos adversos , Vasodilatadores/farmacología
18.
Rev Neurol ; 26(154): 1021-6, 1998 Jun.
Artículo en Español | MEDLINE | ID: mdl-9658487

RESUMEN

OBJECTIVES: To review the up-dated classification of limb girdle muscular dystrophies (LGMDs) in relation to the defective protein and the genetic abnormality. To explain how these proteins are related to dystrophin and to the proteins of the extracellular matrix. To show that an accurate diagnosis is necessary and that it can be adequately made in neuromuscular pathology laboratories. DEVELOPMENT: We present a study of the different types of LGMDs, dystrophinopathies and congenital muscular dystrophy. We emphasize the recent events which concluded in the identification of these disorders, the genetic alteration, the defective proteins and, briefly, the clinical features. CONCLUSIONS: The recent identification of numerous skeletal muscle proteins and of the codifying genes made possible a new classification of a large group of muscular dystrophies. The possibility to study these proteins on the muscle biopsy with immunohistochemistry and Western blot techniques indicates the need of an accurate diagnosis in specialized neuromuscular laboratories. Since there is a great number of genes discovered and of mutations within the same gene, and the clinical picture of different diseases can be similar, a previous study of the protein is advisable as a guide for a further genetic study.


Asunto(s)
Distrofina/deficiencia , Distrofias Musculares/clasificación , Calpaína/deficiencia , Calpaína/genética , Preescolar , Mapeo Cromosómico , Cromosomas Humanos/genética , Proteínas del Citoesqueleto/deficiencia , Proteínas del Citoesqueleto/genética , Distroglicanos , Distrofina/genética , Femenino , Humanos , Lactante , Recién Nacido , Laminina/deficiencia , Laminina/genética , Sustancias Macromoleculares , Masculino , Glicoproteínas de Membrana/deficiencia , Glicoproteínas de Membrana/genética , Proteínas Musculares/deficiencia , Proteínas Musculares/genética , Distrofias Musculares/congénito , Distrofias Musculares/genética , Sarcoglicanos
19.
An Esp Pediatr ; 31(6): 589-90, 1989 Dec.
Artículo en Español | MEDLINE | ID: mdl-2629560

RESUMEN

We have made a multifactorial study relating to the cases of juvenile polyps diagnosed in Asturias from 1977 to 1985. We have valued its histological nature and its evolutive behaviour especially as to what refers to the colonic carcinoma. We have analysed its localization and clinical features and noticed an improvement in diagnostic efficiency according to the broader and better use of endoscopy. We also show the need of a more interventionist attitude as regards to this pathology.


Asunto(s)
Neoplasias del Colon/epidemiología , Pólipos Intestinales/epidemiología , Adolescente , Adulto , Factores de Edad , Niño , Neoplasias del Colon/diagnóstico , Colonoscopía , Humanos , Pólipos Intestinales/diagnóstico , España/epidemiología
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