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Search Results: 1 - 10 of 29285 matches for " Roberto álvarez Fumero "
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Enfermedades heredometabólicas y embarazo
álvarez Fumero,Roberto;
Revista Cubana de Obstetricia y Ginecolog?-a , 2003,
Abstract: the existing diagnostic possibilities and the effective treatment for some variants of hereditary metabolic diseases have favored the detection of a large adult female population carrying such diseases. there is an important relation between several hereditary metabolic diseases and the desire of getting pregnant that should be taken into account during prenatal and perinatal care. this article reviewed the hereditary metabolic diseases and their effects on the pregnancy and the outcome. it also underlined the possibility of prenatal echographic diagnosis of fetal malformations that gives rise to suspicion about the diagnosis in this period as well as the possible treatment of some of these diseases in the prenatal stage. the article draws attention to the serious complications that some hereditary metabolic diseases of the fetus may bring about during pregnancy and puerperium (hellp syndrome). it was suggested that women with certain hereditary metabolic diseases like homocystinuria and phenylketonuria be advised of the increased risk of complications in pregnancy and of the intrauterine fetal damage caused by this disease. special importance was given to phenylketonuria in which a restrictive dietary treatment before and during pregnancy can prevent the characteristic embryofetopathy of this entity.
Síndrome de fenilcetonuria materna
álvarez Fumero,Roberto;
Revista Cubana de Obstetricia y Ginecolog?-a , 2003,
Abstract: the maternal phenylketonuria syndrome is an embriopathy occurring in children of phenylalaninemic mothers that have not recieved an adequate diet before and during pregnancy. this article deals with the semiology, the physiopathology of this syndrome and the possible mechanisms of the intrauterine damage it causes. women at risk are defined and the conduct to be followed with them to prevent the occurrence of embriopathy due to maternal phenylketonuria in the offspring is explained. emphasis is made on the strict metabolic control since the future mother plans her gestation and during pregnancy as the sole efficient therapeutic option. the protagonist role of primary health care in the prevention of embryopathy due to maternal phenylketonuria is reaffirmed. those women suffering from phenylketonuria on reaching the reproductive age should be classified as preconceptional risk and receive a wide information allowing them to recognize the probabilities they have to develop an embryopathy, to plan their pregnancy adequately and to understand the need to be on a restricted diet. the benign hyperphenylalaninemic patients should be actively sought so that, previous classification, they receive biochemical and neurodevelopmental follow-up, making emphasis on women at reproductive age.
?Son los errores congénitos del metabolismo causa prevenible de muerte súbita?
álvarez Fumero,Roberto;
Revista Cubana de Pediatr?-a , 2004,
Abstract: the sudden infant death syndrome (sids) is not an isolated process, but a multifactorial and multicausal event, of which there are less potentially diagnosable alterations every day, turning into an exclusion diagnosis. some congenital errors of metabolism have been associated with sdsi and/or with apparently lethal episodes, although most of them may have some clinical expression that makes them potentially diagnosable before death, allowing to eliminate them from the causes of sids. of them, the most closely related to sids are the disorders of mitochondrial betaoxidation of fatty acids. only from 3 to 5 % of the sids may be related to cem. the greatest impact of knowing about the association of sids and about these disorders is precisely the possibility of its prevention. the medical personnel should know that the most efficient way to prevent sids connected with cem is the active search for infants at risk, on making an exhaustive anamnesis. these cases should be object of specialized metabolic studies for which it is indispensable to know the requisites of obtention, conservation and transfer of samples to the reference laboratory.
Son los errores congénitos del metabolismo causa prevenible de muerte súbita?
Roberto álvarez Fumero
Revista Cubana de Pediatr?-a , 2004,
Abstract: El síndrome de muerte súbita del lactante (SMSL) no es un proceso aislado, sino un hecho multifactorial y multicausal, del cual cada día se restan alteraciones potencialmente diagnosticables, para pasar a ser un diagnóstico de exclusión. Algunos errores congénitos del metabolismo (ECM) han sido asociados al SMSL y/o a episodios aparentemente letales EAL, aunque la mayoría de ellos suelen tener alguna expresión clínica que los hace potencialmente diagnosticables antes de la muerte, lo que permite ser descartados de entre las causas del SMSL. De ellos, los más estrechamente relacionados con el SMSL son los trastornos de la betaoxidación mitocondrial de ácidos grasos. Solo del 3 al 5 % de los SMSL pueden guardar relación con ECM. El mayor impacto que representa el conocimiento de la asociación de SMSL y estos trastornos, es precisamente la posibilidad de su prevención. El personal médico debe conocer que la más eficiente forma de prevenir el SMSL relacionado con los ECM, es la búsqueda activa de lactantes de riesgo al realizar una exhaustiva anamnesis. Estos casos deben ser objeto de estudios metabólicos especializados, para lo cual es imprescindible conocer los requisitos de obtención, conservación y traslado de muestras al Laboratorio de Referencia. The sudden infant death syndrome (SIDS) is not an isolated process, but a multifactorial and multicausal event, of which there are less potentially diagnosable alterations every day, turning into an exclusion diagnosis. Some congenital errors of metabolism have been associated with SDSI and/or with apparently lethal episodes, although most of them may have some clinical expression that makes them potentially diagnosable before death, allowing to eliminate them from the causes of SIDS. Of them, the most closely related to SIDS are the disorders of mitochondrial betaoxidation of fatty acids. Only from 3 to 5 % of the SIDS may be related to CEM. The greatest impact of knowing about the association of SIDS and about these disorders is precisely the possibility of its prevention. The medical personnel should know that the most efficient way to prevent SIDS connected with CEM is the active search for infants at risk, on making an exhaustive anamnesis. These cases should be object of specialized metabolic studies for which it is indispensable to know the requisites of obtention, conservation and transfer of samples to the Reference Laboratory.
Enfermedades heredometabólicas y embarazo Hereditary metabolic diseases and pregnancy
Roberto álvarez Fumero
Revista Cubana de Obstetricia y Ginecolog?-a , 2003,
Abstract: El contar con la posibilidad diagnóstica y tratamiento efectivo para algunas variantes de enfermedades heredometabólicas ha propiciado el reconocimiento de una importante población femenina adulta portadora de ellas. Existe una importante relación entre varias enfermedades heredometabólicas y el deseo de un embarazo que debe tenerse en cuenta durante la atención prenatal y perinatal. En este artículo se realizó una revisión de las enfermedades heredometabólicas y sus consecuencias sobre el embarazo y su producto. Se resaltó la posibilidad de diagnóstico prenatal ecográfico de malformaciones fetales que hacen sospechar el diagnóstico en este período, así como la posibilidad de algunas enfermedades heredometabólicas de ser tratadas prenatalmente. Se alertó de las graves complicaciones que sobre la gestación y el puerperio (síndrome HELLP) producen algunas enfermedades heredometabólicas del feto. Se sugirió que mujeres portadoras de ciertas enfermedades heredometabólicas como la homocistinuria y la fenilcetonuria, sean aconsejadas del riesgo incrementado de complicaciones de la gestación y del da o fetal intraútero que produce su enfermedad. Especial relevancia se le ofreció a la fenilcetonuria, en la cual con un tratamiento dietético restrictivo preconcepcional y durante la gestación se logra prevenir la embriofetopatía característica de esta entidad. The existing diagnostic possibilities and the effective treatment for some variants of hereditary metabolic diseases have favored the detection of a large adult female population carrying such diseases. There is an important relation between several hereditary metabolic diseases and the desire of getting pregnant that should be taken into account during prenatal and perinatal care. This article reviewed the hereditary metabolic diseases and their effects on the pregnancy and the outcome. It also underlined the possibility of prenatal echographic diagnosis of fetal malformations that gives rise to suspicion about the diagnosis in this period as well as the possible treatment of some of these diseases in the prenatal stage. The article draws attention to the serious complications that some hereditary metabolic diseases of the fetus may bring about during pregnancy and puerperium (HELLP syndrome). It was suggested that women with certain hereditary metabolic diseases like homocystinuria and phenylketonuria be advised of the increased risk of complications in pregnancy and of the intrauterine fetal damage caused by this disease. Special importance was given to phenylketonuria in which a restrictive dietary treat
Síndrome de fenilcetonuria materna Maternal phenylketonuria syndrome
Roberto álvarez Fumero
Revista Cubana de Obstetricia y Ginecolog?-a , 2003,
Abstract: El síndrome de fenilcetonuria materna es una embriopatía que ocurre en hijos de madres fenilalaninémicas que no han recibido tratamiento dietético adecuado preconcepcional ni durante la gestación. El presente articulo expone la semiología, fisiopatología de este síndrome y posibles mecanismos del da o intraútero que provoca. Define las mujeres en riesgo y explica la conducta a seguir con ellas para prevenir la ocurrencia de embriopatía por fenilcetonuria materna en la descendencia. Se enfatiza en el estricto control metabólico desde que la futura madre planifica su gestación y durante todo el embarazo como única opción terapéutica eficaz. Se reafirma el papel protagónico de la atención primaria de salud en la prevención de la embriopatía por fenilcetonuria materna. Las fenilcetonúricas que arriban a la edad reproductiva deben ser clasificadas de riesgo preconcepcional y recibir una amplia información que les permita reconocer las probabilidades que tiene de desarrollar una embriopatía, planificar adecuadamente su embarazo y asumir la necesidad de llevar una dieta restrictiva. Se deben buscar activamente las hiperfenilalaninémicas benignas para que previa dispensarización reciban seguimiento bioquímico y del neurodesarrollo, con énfasis en las hembras que alcanzan la edad reproductiva. The maternal phenylketonuria syndrome is an embriopathy occurring in children of phenylalaninemic mothers that have not recieved an adequate diet before and during pregnancy. This article deals with the semiology, the physiopathology of this syndrome and the possible mechanisms of the intrauterine damage it causes. Women at risk are defined and the conduct to be followed with them to prevent the occurrence of embriopathy due to maternal phenylketonuria in the offspring is explained. Emphasis is made on the strict metabolic control since the future mother plans her gestation and during pregnancy as the sole efficient therapeutic option. The protagonist role of primary health care in the prevention of embryopathy due to maternal phenylketonuria is reaffirmed. Those women suffering from phenylketonuria on reaching the reproductive age should be classified as preconceptional risk and receive a wide information allowing them to recognize the probabilities they have to develop an embryopathy, to plan their pregnancy adequately and to understand the need to be on a restricted diet. The benign hyperphenylalaninemic patients should be actively sought so that, previous classification, they receive biochemical and neurodevelopmental follow-up, making emphasis on women at reproductive
Abordaje de la epilepsia en la infancia.: Parte I
álvarez Fumero,Roberto; Valdés Urrutia,Lourdes;
Revista Cubana de Medicina General Integral , 1997,
Abstract: some of the considerations that should be taken into account by family physicians, pediatricians and neurologists in the comprehensive management of children with epilepsy are exposed. emphasis is made on the important information obtained from the anamnesis and from an exhaustive physical and neurological examination. the value of the examination of the fundus oculi, the skin and its adnexa is stressed. the advantages, disadvantages and indications of the images studies are shown, encouraging their more rational use. a warning is given on the rutinary use of hematic biometry studies, metabolic tests in urine and cerebrospinal examination in the diagnosis of epilepsy. the latest advances of cybernetics applied to neurology are also mentioned. the multidisciplinary evaluation of these children is considered as useful.
Abordaje de la epilepsia en la infancia.: Parte I
Roberto álvarez Fumero,Lourdes Valdés Urrutia
Revista Cubana de Medicina General Integral , 1997,
Abstract: El presente artículo cumple el objetivo de exponer algunas consideraciones que deben tener en cuenta los médicos de la familia, pediatras y neurólogos, en el manejo integral del ni o con epilepsia. Insistimos en la importante información que aporta la anamnesis y la realización de un exhaustivo examen físico neurológico. Resaltamos el valor del examen del fondo de ojo y de la piel y sus anexos. Mostramos las ventajas, desventajas e indicaciones de los estudios imagenológicos, exhortando a su utilización más racional. Alertamos sobre el uso rutinario de los estudios de biometría hemática, pruebas metabólicas en orina y examen del líquido cefalorraquídeo, en el diagnóstico de la epilepsia. Mencionamos los recientes avances de la cibernética aplicada a la neurología. Consideramos útil la valoración multidisciplinaria de estos ni os. Some of the considerations that should be taken into account by family physicians, pediatricians and neurologists in the comprehensive management of children with epilepsy are exposed. Emphasis is made on the important information obtained from the anamnesis and from an exhaustive physical and neurological examination. The value of the examination of the fundus oculi, the skin and its adnexa is stressed. The advantages, disadvantages and indications of the images studies are shown, encouraging their more rational use. A warning is given on the rutinary use of hematic biometry studies, metabolic tests in urine and cerebrospinal examination in the diagnosis of epilepsy. The latest advances of cybernetics applied to neurology are also mentioned. The multidisciplinary evaluation of these children is considered as useful.
Conducción nerviosa en ni os con insuficiencia renal crónica
Dania Fuentes Martínez,Roberto Tomás álvarez Fumero,Olga Noemí Levis,Carlos Santos Anzorandia
Revista Cubana de Pediatr?-a , 2002,
Abstract: La polineuropatía urémica es la complicación neurológica más frecuente de la insuficiencia renal crónica, y son insuficientemente conocidos su prevalencia, síntomas y patrones neurofisiológicos de expresión en la población pediátrica. Es por ello que se estudiaron 23 pacientes en edades comprendidas entre 7 y 21 a os, con insuficiencia renal crónica en sus diferentes grados y 23 ni os supuestamente sanos, buscando la presencia de neuropatía periférica clínica o subclínica. Se realizó examen físico general y neurológico, así como la medición de las velocidades de conducción motora y sensitiva. Los síntomas predominantes fueron el dolor a la marcha (55,5 %) y las parestesias (44,4 %), y fueron más frecuentes en el grupo de pacientes dialíticodependientes. La función nerviosa periférica estuvo alterada en todos los grupos estudiados, y existió correlación significativa entre la velocidad de conducción sensitiva y los valores medios de urea, creatinina y filtrado glomerular. Se hallaron diferencias significativas entre las medias de la velocidad de conducción sensitiva de los ni os de los grupos predialítico, dialíticodependiente y el grupo control, y entre los grupos predialítico y con transplante renal no existieron diferencias significativas. Uremic polyneuropathy is the most frequent neurological complication of the chronic renal failure but its prevalence, symptoms and neurophysiological patterns of expression in the pediatric population are not well known. This is the reason why 23 patients aged 7-21 years with chronic renal failure at different stages and 23 supposedly healthy children were studied to look for clinical or subclinical peripheral neuropathy. General physical and neurological exams were made and sensory and motor conduction velocities were measured. The prevailing symptoms were pain on walking(55,5%) and paresthesias (44,4%) mainly found in dialysis-dependent patients. All the studied groups showed disturbed peripheral nerve function whereas correlation between sensory conduction rate and mean values of urea, creatinine and glomerural filtrate was significant. Also, significant differences between mean values of sensory conduction velocity of pre-dialysis and dialysis-dependent groups and the control group but there was no significant difference between pre-dialysis and renal transplanted groups. Subject headings
Manejo hospitalario de la meningoencefalitis bacteriana por S. Neumoniae
Roberto álvarez Fumero,Dania Luisa Manresa Gómez,Bertha Lidia Castro Pacheco,Miosotis Pérez Orta
Revista Cubana de Pediatr?-a , 2003,
Abstract: La actitud terapéutica ante la meningitis bacteriana (MEB) es uno de los retos más importantes a los que se enfrenta el pediatra, pues de su oportuno y adecuado manejo depende el pronóstico. Los cambios en la epidemiología de los síndromes neurológicos infecciosos bacterianos observados en Cuba a partir del a o 2000, promovieron la implementación de modificaciones al régimen terapéutico antibiótico convencional. En este artículo, sin olvidar que el tratamiento ideal es el preventivo, se expone una revisión actualizada del manejo hospitalario de las MEB por S.pneumoniae, que incluye: adopción de medidas generales, instauración temprana de acciones dirigidas a atenuar los efectos perjudiciales de la respuesta inflamatoria sistémica, conducta específica contra el agente (antibioticoterapia) y finalmente la identificación precoz e inicio de la rehabilitación de secuelas. Se hace énfasis en las modificaciones al esquema antibiótico adoptadas recientemente por la Comisión Nacional de SNI. Se exponen consideraciones sobre la introducción de la vancomicina en esquema antimicrobiano de las MEB por S.pneumoniae. The therapeutic attitude to face bacterial meningitis (BME) is one of the most important challenges for pediatricians, since the prognosis depends on its timely and adequate management The changes in the epidemiology of the bacterial infectious neurological syndromes ocurred in Cuba from 2000 on, promoted the implementation of modifications in the conventional therapeutical antibiotic regimen. In this article, without forgetting that the ideal treatment is the preventive one, it is exposed an updated review of the hospital management of BME due to S.Pneumoniae that includes: adoption of general measures, early establishment of actions directed to alleviate the harmful effects of the systemic inflammatory reponse, specific conduct against the agent (antibiotic therapy) and, finally, the identification and beginning of the rehabilitation of sequelae. Emphasis is made on the modifications of the antibiotic scheme recently adopted by the National Commission of the National System of Information. Considerations are made on the introduction of vancomycin in the antimicrobial scheme of the BME caused by S. pneumnoniae.
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