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1.
J Colloid Interface Sci ; 616: 465-475, 2022 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-35421638

RESUMO

HYPOTHESIS: The interaction of active particles with walls can explain discrepancies between experiments and theory derived for particles in the bulk. For an electric field driven metallodielectric Janus particle (JP) adjacent to an electrode, interaction between the asymmetric particle and the partially screened electrode yields a net electrostatic force - termed self-dielectrophoresis (sDEP) - that competes with induced-charge electrophoresis (ICEP) to reverse particle direction. EXPERIMENTS: The potential contribution of hydrodynamic flow to the reversal is evaluated by visualizing flow around a translating particle via micro-particle image velocimetry and chemically suppressing ICEP with poly(l-lysine)-g-poly(ethylene glycol) (PLL-PEG). Mobility of Polystyrene-Gold JPs is measured in KCl electrolytes of varying concentration and with a capacitive SiO2 coating at the metallic JP surface or electrode. Results are compared with theory and numerical simulations accounting for electrode screening. FINDINGS: PLL-PEG predominantly suppresses low-frequency mobility where propulsive electro-hydrodynamic jetting is observed; supporting the hypothesis of an electrostatic driving force at high frequencies. Simulations and theory show the magnitude, direction and frequency dispersion of JP mobility are obtained by superposition of ICEP and sDEP using the JP height and capacitance as fitting parameters. Wall proximity enhances ICEP and sDEP and manifests a secondary ICEP charge relaxation time dominating in the contact limit.


Assuntos
Nanopartículas Multifuncionais , Eletricidade , Eletrodos , Eletroforese/métodos , Dióxido de Silício
2.
Haemophilia ; 24(4): e187-e193, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29873151

RESUMO

INTRODUCTION: Haemophilia is one of the most common inherited bleeding disorders in the Emergency Department (ED). The most dangerous site of bleeding is the central nervous system. AIMS: To describe the characteristics of haemophiliacs arrived to our ED following a head trauma and to analyse the incidence of intracranial haemorrhage (ICH). MATERIALS AND METHODS: Retrospective, analytical, observational study, conducted in a Paediatric ED. We included haemophilic patients aged from birth to 16 years who consulted after a head trauma over a 6-year period. Data collected included age, type of haemophilia and head trauma, symptoms, prophylaxis status, CT imaging, treatment and number of visits to the ED. RESULTS: About 46 males and 85 episodes were analysed. The median age was 2.38 years. Severe haemophilia A was the most frequent type of disease (50%). All head injuries were mild, and the most frequent mechanism was a collision with an object (38.8%). In 62 episodes (72.9%) the patients were asymptomatic. The rest 23 events had symptomatology, being the most common headache (26%), emesis (21.7%) and drowsiness (17.4%). Head CT was obtained in 31 episodes, founding altered results in 10 (6 of them corresponding to ICH). All the patients with ICH had symptomatology. About 37 episodes required admission. CONCLUSION: Intracranial haemorrhage is one of the most dangerous events in haemophiliacs and it may occur after a head trauma. Our study suggests that, in case of head trauma, CT must be obtained in symptomatic patients and in those with additional risk factors. Asymptomatic patients must have prolonged observation.


Assuntos
Traumatismos Craniocerebrais/complicações , Serviço Hospitalar de Emergência , Hemofilia A/complicações , Adolescente , Criança , Pré-Escolar , Traumatismos Craniocerebrais/diagnóstico , Traumatismos Craniocerebrais/terapia , Feminino , Humanos , Masculino , Fatores de Risco , Atenção Terciária à Saúde
3.
Rev Neurol ; 66(8): 261-267, 2018 Apr 16.
Artigo em Espanhol | MEDLINE | ID: mdl-29645069

RESUMO

AIM: To describe the clinical presentation, risk factors and complementary tests in patients of our paediatric emergency service with a final diagnosis of ischemic stroke. PATIENTS AND METHODS: Retrospective, analytical and observational study, performed in a Paediatric Emergency Service of a tertiary-level hospital. We included patients aged 1 month to 14 years during a 12-years period with a final diagnosis of ischemic cerebrovascular disease (CVD). We analyzed personal history, symptomatology and initial complementary tests. RESULTS: Twelve patients were included, 66% males, with a median age of 77 months. 42% had remarkable history. The most frequent clinical manifestation was motor disorder (75%). 42% were diagnosed in the first 24 hours, noticing an earlier diagnosis after the introduction of a multidisciplinary protocol about CVD. CT was performed in all patients, except in two cases in whom MRI was performed. 50% of the CTs were initially normal. In the etiological study developed lately, only 42% of the patients had risk factors. 91% had some kind of sequel. CONCLUSIONS: CVD is uncommon in pediatrics, but with a high morbimortality, so it is important to make an early diagnosis. Clinical and personal history are fundamental, nevertheless, we mainly deal with a previously healthy child without known risk factors at the time of the first evaluation. In case of clinical suspicion of stroke, a normal initial CT does not rule out a CVD, so other additional tests, such as MRI, are necessary.


TITLE: Enfermedad cerebrovascular de tipo isquemico posnatal en urgencias pediatricas: estudio descriptivo.Objetivo. Describir la presentacion clinica, los factores de riesgo y las pruebas complementarias realizadas en pacientes atendidos en urgencias con diagnostico de ictus isquemico. Pacientes y metodos. Estudio retrospectivo, analitico observacional, realizado en urgencias pediatricas de un hospital de tercer nivel. Se incluyeron pacientes entre 1 mes y 14 años durante 12 años, con diagnostico de enfermedad cerebrovascular (ECV) de tipo isquemico. Se analizaron los antecedentes personales, la sintomatologia y las pruebas complementarias iniciales. Resultados. Se recogieron 12 pacientes (66% varones), con una mediana de edad de 77 meses. El 42% presento algun antecedente reseñable. La manifestacion clinica mas frecuente fue la alteracion motora (75%). El 42% fueron diagnosticados en las primeras 24 horas, y se objetivo un diagnostico mas temprano tras la introduccion de un programa multidisciplinar sobre manejo de la ECV. En todos se realizo inicialmente una tomografia axial computarizada (TAC) craneal, salvo en dos casos en los que se hizo una resonancia magnetica. La mitad de las TAC fueron normales al inicio. En el estudio etiologico posterior se encontraron factores de riesgo solo en cinco pacientes (42%). El 91% presento algun tipo de secuela. Conclusiones. La ECV es poco frecuente en pediatria, con elevada morbimortalidad, y es importante realizar un adecuado diagnostico precoz. Son fundamentales la historia clinica y los antecedentes personales, aunque en la valoracion inicial es frecuente encontrarse ante niños sanos sin factores de riesgo conocidos en ese momento. Ante la sospecha clinica de ictus, una TAC craneal inicial normal no descarta una ECV y son necesarias otras pruebas, como la resonancia magnetica.


Assuntos
Isquemia Encefálica/epidemiologia , Serviço Hospitalar de Emergência/estatística & dados numéricos , Adolescente , Dano Encefálico Crônico/etiologia , Isquemia Encefálica/complicações , Isquemia Encefálica/diagnóstico por imagem , Criança , Pré-Escolar , Feminino , Cefaleia/etiologia , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Transtornos dos Movimentos/etiologia , Neuroimagem , Pediatria , Estudos Retrospectivos , Fatores de Risco , Centros de Atenção Terciária/estatística & dados numéricos , Tomografia Computadorizada por Raios X
4.
Rev. neurol. (Ed. impr.) ; 66(8): 261-267, 16 abr., 2018. tab
Artigo em Espanhol | IBECS | ID: ibc-173315

RESUMO

Objetivo. Describir la presentación clínica, los factores de riesgo y las pruebas complementarias realizadas en pacientes atendidos en urgencias con diagnóstico de ictus isquémico. Pacientes y métodos. Estudio retrospectivo, analítico observacional, realizado en urgencias pediátricas de un hospital de tercer nivel. Se incluyeron pacientes entre 1 mes y 14 años durante 12 años, con diagnóstico de enfermedad cerebrovascular (ECV) de tipo isquémico. Se analizaron los antecedentes personales, la sintomatología y las pruebas complementarias iniciales. Resultados. Se recogieron 12 pacientes (66% varones), con una mediana de edad de 77 meses. El 42% presentó algún antecedente reseñable. La manifestación clínica más frecuente fue la alteración motora (75%). El 42% fueron diagnosticados en las primeras 24 horas, y se objetivó un diagnóstico más temprano tras la introducción de un programa multidisciplinar sobre manejo de la ECV. En todos se realizó inicialmente una tomografía axial computarizada (TAC) craneal, salvo en dos casos en los que se hizo una resonancia magnética. La mitad de las TAC fueron normales al inicio. En el estudio etiológico posterior se encontraron factores de riesgo sólo en cinco pacientes (42%). El 91% presentó algún tipo de secuela. Conclusiones. La ECV es poco frecuente en pediatría, con elevada morbimortalidad, y es importante realizar un adecuado diagnóstico precoz. Son fundamentales la historia clínica y los antecedentes personales, aunque en la valoración inicial es frecuente encontrarse ante niños sanos sin factores de riesgo conocidos en ese momento. Ante la sospecha clínica de ictus, una TAC craneal inicial normal no descarta una ECV y son necesarias otras pruebas, como la resonancia magnética


Aim. To describe the clinical presentation, risk factors and complementary tests in patients of our paediatric emergency service with a final diagnosis of ischemic stroke. Patients and methods. Retrospective, analytical and observational study, performed in a Paediatric Emergency Service of a tertiary-level hospital. We included patients aged 1 month to 14 years during a 12-years period with a final diagnosis of ischemic cerebrovascular disease (CVD). We analyzed personal history, symptomatology and initial complementary tests. Results. Twelve patients were included, 66% males, with a median age of 77 months. 42% had remarkable history. The most frequent clinical manifestation was motor disorder (75%). 42% were diagnosed in the first 24 hours, noticing an earlier diagnosis after the introduction of a multidisciplinary protocol about CVD. CT was performed in all patients, except in two cases in whom MRI was performed. 50% of the CTs were initially normal. In the etiological study developed lately, only 42% of the patients had risk factors. 91% had some kind of sequel. Conclusions. CVD is uncommon in pediatrics, but with a high morbimortality, so it is important to make an early diagnosis. Clinical and personal history are fundamental, nevertheless, we mainly deal with a previously healthy child without known risk factors at the time of the first evaluation. In case of clinical suspicion of stroke, a normal initial CT does not rule out a CVD, so other additional tests, such as MRI, are necessary


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Transtornos Cerebrovasculares/diagnóstico , Acidente Vascular Cerebral/diagnóstico , Fatores de Risco , Ataque Isquêmico Transitório/diagnóstico , Diagnóstico Precoce , Transtornos Cerebrovasculares/etiologia , Estudos Retrospectivos
5.
Acta pediatr. esp ; 76(1/2): 8-13, ene.-feb. 2018. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-172418

RESUMO

Introducción: La fiebre sin foco en el recién nacido constituye un motivo de consulta frecuente en los servicios de urgencias pediátricas. En los últimos años han surgido diferentes enfoques sobre su manejo, y se tiende a un abordaje conservador en cuanto a la realización de exploraciones complementarias. Materiales y métodos: Estudio descriptivo retrospectivo de las historias clínicas de los menores de 1 mes atendidos en nuestro servicio de urgencias pediátricas por fiebre sin foco durante los años 2011-2013. Resultados: Se analizaron 146 casos. Se realizó urocultivo en el 98,6% de los casos y un cultivo del líquido cefalorraquídeo (LCR) en el 91,1%. En el 13,6%, el urocultivo resultó positivo, y el microorganismo más frecuente fue Escherichia coli (75%). El 28,8% presentó un LCR positivo, lo que supone el 95,2% de los casos de infecciones por enterovirus, sin aislarse ningún agente bacteriano. Hemos encontrado una relación estadísticamente significativa (p < 0,002) entre los pacientes que presentaron valores más elevados de temperatura y los cultivos de LCR positivos para enterovirus, así como entre los que presentaron mayores recuentos de leucocitos en sangre con cultivo de orina y LCR patológicos (p < 0,001 y p = 0,019, respectivamente). Conclusión: Los neonatos febriles suponen un grupo de riesgo para el desarrollo de una infección bacteriana grave, por lo que es importante realizar una búsqueda etiológica exhaustiva, con estudio de sangre, orina y LCR, independientemente de su rango de edad. La indicación de las exploraciones complementarias no puede basarse exclusivamente en los hallazgos obtenidos en la anamnesis y la exploración física (AU)


Introduction: Unexplained fever in newborn infants represents a common visit to the pediatric emergency departament (ED). In the last few years different views about its management had arosen, with a tendency towards being conservative about complementary exams. Materials and methods: Descriptive, retrospective study based on clinical data of newborn infants (less than 1 month old) in our ED department with unexplained fever between 2011-2013. Results: Data for 146 patients were analyzed. Urine culture was done in 98.6% of the patients and cerebrospinal fluid culture in the 91.1%. Urine culture turned out positive in the 13.6%, being Escherichia coli the most common microorganism (75%). In the 28.8% of the cases, the sample of cerebrospinal fluid turned up positive, assuming in the 95.2% of the cases, enterovirus infections without a bacterial agent being isolated. We have found a statistical significative relation (p < 0.002) between patients with higher temperature levels and cerebrospinal fluid positive cultures for enterovirus as well as between the ones with higher white blood cell count with positive cerebrospinal fluid and urine cultures (p < 0.001 y p = 0.019, respectively). Conclusion: Febrile newborn infants are a risk group for developing serious bacterial infections, highlighting the importance of an exhaustive etiological study, with blood, urine and cerebrospinal fluid studies, regardless their age group. The indication of complementary exams must not be based only on anamnesis or physical examination (AU)


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Punção Espinal , Febre de Causa Desconhecida/diagnóstico , Medicina de Emergência Pediátrica/métodos , Líquido Cefalorraquidiano , Fatores de Risco , Medicina de Emergência Pediátrica/organização & administração , Estudos Retrospectivos , Líquido Cefalorraquidiano/citologia , Meios de Cultura/análise , Urina/citologia , Urinálise/métodos
6.
Rev Sci Instrum ; 83(10): 10D727, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23130796

RESUMO

The new JET ITER-like wall (made of beryllium and tungsten) is more fragile than the former carbon fiber composite wall and requires active protection to prevent excessive heat loads on the plasma facing components (PFC). Analog CCD cameras operating in the near infrared wavelength are used to measure surface temperature of the PFCs. Region of interest (ROI) analysis is performed in real time and the maximum temperature measured in each ROI is sent to the vessel thermal map. The protection of the ITER-like wall system started in October 2011 and has already successfully led to a safe landing of the plasma when hot spots were observed on the Be main chamber PFCs. Divertor protection is more of a challenge due to dust deposits that often generate false hot spots. In this contribution we describe the camera, data capture and real time processing systems. We discuss the calibration strategy for the temperature measurements with cross validation with thermal IR cameras and bi-color pyrometers. Most importantly, we demonstrate that a protection system based on CCD cameras can work and show examples of hot spot detections that stop the plasma pulse. The limits of such a design and the associated constraints on the operations are also presented.

7.
Phys Rev E Stat Nonlin Soft Matter Phys ; 81(1 Pt 2): 016320, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20365473

RESUMO

In this work, we extend previous analyses of ac electro-osmosis to account for the combined action of two experimentally relevant effects: (i) Faradaic currents from electrochemical reactions at the electrodes and (ii) differences in ion mobilities of the electrolyte. In previous works, the ac electro-osmotic motion has been analyzed theoretically under the assumption that only forces in the diffuse (Debye) layer are relevant. Here, we first show that if the ion mobilities of a 1-1 aqueous solution are different, the charged zone expands from the Debye layer to include the diffusion layer. We later include the Faradaic currents and, as an attempt to explore both factors simultaneously, we perform a thin-layer, low-frequency, linear analysis of the system. Finally, the model is applied to the case of an electrolyte actuated by a traveling-wave signal. A steady liquid motion in opposite direction to the applied signal is predicted for some ranges of the parameters. This could serve as a partial explanation for the observed flow reversal in some experiments.

8.
Langmuir ; 25(9): 4988-97, 2009 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-19320476

RESUMO

Pumping of electrolytes using ac electric fields from arrays of microelectrodes is a subject of current research. The behavior of fluids at low signal amplitudes (<2-3 V(pp)) is in qualitative agreement with the prediction of the ac electroosmosis theory. At higher voltages, this theory cannot account for the experimental observations. In some cases, net pumping is generated in the direction opposite to that predicted by the theory (flow reversal). In this work, we use fluorescent dyes to study the effect of ionic concentration gradients generated by Faradaic currents. We also evaluate the influence of factors such as the channel height and microelectrode array shape in the pumping of electrolytes with traveling-wave potentials. Induced charge beyond the Debye length is postulated to be responsible for the forces generating the observed flows at higher voltages. Numerical calculations are performed in order to illustrate the mechanisms that might be responsible for generating the flow.

9.
Langmuir ; 24(17): 9361-9, 2008 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-18672919

RESUMO

An array of microelectrodes covered in an electrolyte and energized by a traveling-wave potential produces net movement of the fluid. Arrays of platinum microelectrodes of two different characteristic sizes have been studied. For both sizes of arrays, at low voltages (<2 V pp) the electrolyte flow is in qualitative agreement with the linear theory of ac electroosmosis. At voltages above a threshold, the direction of fluid flow is reversed. The electrical impedance of the electrode-electrolyte system was measured after the experiments, and changes in the electrical properties of the electrolyte were observed. Measurements of the electrical current during pumping of the electrolyte are also reported. Transient behaviors in both electrical current and fluid velocity were observed. The Faradaic currents probably generate conductivity gradients in the liquid bulk, which in turn give rise to electrical forces. These effects are discussed in relation to the fluid flow observations.

10.
An Pediatr (Barc) ; 66(4): 410-2, 2007 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-17430719

RESUMO

Malformations of the abdominal venous system are rare vascular disorders. These entities are associated with other malformations and with chromosomal anomalies such as trisomy 21. Abdominal venous malformations are probably the most frequent congenital vascular malformations in Down syndrome. Prenatal diagnosis allows the early follow-up and treatment of complications. We present a case of Down syndrome associated with an abdominal venous malformation diagnosed at the first trimester of pregnancy.


Assuntos
Abdome/irrigação sanguínea , Aorta Abdominal/anormalidades , Malformações Arteriovenosas/complicações , Síndrome de Down/complicações , Artéria Hepática/anormalidades , Veia Porta/anormalidades , Veias Cavas/anormalidades , Feminino , Doenças Fetais/diagnóstico , Humanos , Recém-Nascido , Angiografia por Ressonância Magnética , Gravidez , Diagnóstico Pré-Natal
11.
An. pediatr. (2003, Ed. impr.) ; 66(4): 410-412, abr. 2007. ilus
Artigo em Es | IBECS | ID: ibc-054433

RESUMO

Las malformaciones del sistema venoso abdominal son alteraciones vasculares raras. Se asocian a otras malformaciones y, ocasionalmente, se han descrito asociadas a alteraciones cromosómicas como la trisomía 21. Son probablemente las malformaciones congénitas vasculares más frecuentes en el síndrome de Down. El diagnóstico prenatal permite un seguimiento precoz y un tratamiento temprano de las complicaciones. Presentamos un caso de síndrome de Down con una malformación venosa abdominal asociada, diagnosticada en el primer trimestre de gestación


Malformations of the abdominal venous system are rare vascular disorders. These entities are associated with other malformations and with chromosomal anomalies such as trisomy 21. Abdominal venous malformations are probably the most frequent congenital vascular malformations in Down syndrome. Prenatal diagnosis allows the early follow-up and treatment of complications. We present a case of Down syndrome associated with an abdominal venous malformation diagnosed at the first trimester of pregnancy


Assuntos
Feminino , Recém-Nascido , Humanos , Síndrome de Down/complicações , Síndrome de Down/diagnóstico , Doenças Vasculares/congênito , Doenças Vasculares/complicações , Diagnóstico Pré-Natal/métodos , Trissomia/diagnóstico , Trissomia/genética , Síndrome de Down/fisiopatologia , Anastomose Arteriovenosa/anormalidades , Malformações do Sistema Nervoso/diagnóstico , Trissomia/patologia , Anastomose Arteriovenosa/fisiopatologia , Síndrome de Down , Prognóstico , Oxigênio/uso terapêutico , Neovascularização Fisiológica/genética , Moduladores da Angiogênese/uso terapêutico , Abdome/patologia , Abdome
12.
An Pediatr (Barc) ; 64(6): 578-82, 2006 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-16792966

RESUMO

INTRODUCTION: Cardiomyelic syndromes encompass congenital heart disease and skeletal malformations of the upper limbs and are related to mutations in transcription factors with T-Box domains. Holt-Oram syndrome is caused by a dominant mutation in the TBX5 gene that alters the three-dimensional structure of the protein and its DNA binding function. Several point mutations and deletions in TBX5 have been reported in patients with the Holt-Oram syndrome phenotype. PATIENTS AND METHODS: The proband was a boy with a large atrial septal defect ostium secundum type and a ventricular septal defect, diagnosed by clinical findings (heart murmur) and echocardiography. He also presented slightly hypoplastic thumbs with distal bilateral placement and an implantation index of 0.19 (compared with an average of 0.50 for his gestational age at birth). The boy was referred to the department of medical genetics to rule out 22q11.2 microdeletion syndrome. RESULTS: Karyotype and fluorescence in situ hybridization at locus D22S75 were both normal. Because of his clinical findings, molecular study for Holt-Oram syndrome was indicated, leading to the finding of a mutation at intron 7 of TBX5, probably producing a splicing alteration of the gene and resulting in a protein truncated at its C-terminal end. The proband's parents presented the wild type sequence of the gene, thus indicating that the mutation was produced de novo, although a possible germinal mosaicism in the parents could not be ruled out. CONCLUSIONS: Holt-Oram syndrome is the most frequent cause of cardiomyelic syndrome. All children with heart malformations and abnormalities of the upper limbs such as absent, hypoplastic, distally placed or triphalangic thumbs should undergo molecular studies for this syndrome.


Assuntos
Anormalidades Múltiplas/genética , Deformidades Congênitas da Mão/genética , Defeitos dos Septos Cardíacos/genética , Proteínas com Domínio T/genética , Humanos , Recém-Nascido , Masculino , Mutação
13.
An. pediatr. (2003, Ed. impr.) ; 64(6): 578-582, jun. 2006. ilus, tab
Artigo em Es | IBECS | ID: ibc-046057

RESUMO

Introducción Los síndromes cardiomiélicos comprenden cardiopatías congénitas y malformaciones esqueléticas de los miembros superiores, y están relacionados con mutaciones deletéreas de factores de transcripción con dominios del tipo T-Box. El síndrome de Holt-Oram se debe a una mutación dominante en el gen TBX5 que altera la estructura tridimensional de la proteína impidiendo su correcta unión al ADN. Se han descrito varias mutaciones puntuales y deleciones de TBX5 en pacientes con fenotipo de síndrome de Holt-Oram. Pacientes y métodos El paciente es un niño con una comunicación interauricular (CIA) del tipo ostium secundum grande y una comunicación interventricular (CIV) diagnosticados por clínica (soplo) y ecocardiografía. Presenta además unos dedos pulgares algo hipoplásicos y con un emplazamiento distal bilateral, con un índice de implantación de 0,19 frente a una media normal de 0,50 para su edad gestacional al nacer. Es remitido a la consulta de Genética para descartar microdeleción 22q11.2. Resultados El cariotipo y la hibridación in situ de fluorescencia (FISH) con sonda D22S75 resultaron normales y debido a los hallazgos clínicos se realizó un estudio molecular para el síndrome de Holt-Oram. Se encontró una mutación en el intrón 7 de TBX5 que produce una probable alteración del splicing del gen que da lugar a una proteína truncada en su extremo C-terminal. Los padres del propósito presentan una secuencia normal para el gen, lo que indica que la mutación se produjo de novo, sin que pueda descartarse un mosaicismo germinal en los padres. Conclusiones El síndrome de Holt-Oram es la causa más frecuente de síndrome cardiomiélico. Debería ser objeto de estudio molecular todo niño con malformaciones cardíacas y alteraciones de las extremidades superiores como pulgares ausentes, hipoplásicos, distalmente emplazados o trifalángicos


Introduction Cardiomyelic syndromes encompass congenital heart disease and skeletal malformations of the upper limbs and are related to mutations in transcription factors with T-Box domains. Holt-Oram syndrome is caused by a dominant mutation in the TBX5 gene that alters the three-dimensional structure of the protein and its DNA binding function. Several point mutations and deletions in TBX5 have been reported in patients with the Holt-Oram syndrome phenotype. Patients and methods The proband was a boy with a large atrial septal defect ostium secundum type and a ventricular septal defect, diagnosed by clinical findings (heart murmur) and echocardiography. He also presented slightly hypoplastic thumbs with distal bilateral placement and an implantation index of 0.19 (compared with an average of 0.50 for his gestational age at birth). The boy was referred to the department of medical genetics to rule out 22q11.2 microdeletion syndrome. Results Karyotype and fluorescence in situ hybridization at locus D22S75 were both normal. Because of his clinical findings, molecular study for Holt-Oram syndrome was indicated, leading to the finding of a mutation at intron 7 of TBX5, probably producing a splicing alteration of the gene and resulting in a protein truncated at its C-terminal end. The proband's parents presented the wild type sequence of the gene, thus indicating that the mutation was produced de novo, although a possible germinal mosaicism in the parents could not be ruled out. Conclusions Holt-Oram syndrome is the most frequent cause of cardiomyelic syndrome. All children with heart malformations and abnormalities of the upper limbs such as absent, hypoplastic, distally placed or triphalangic thumbs should undergo molecular studies for this syndrome


Assuntos
Masculino , Recém-Nascido , Humanos , Cardiopatias Congênitas/complicações , Anormalidades Musculoesqueléticas/complicações , Mutação/genética , Proteínas com Domínio T/genética
14.
Bone Marrow Transplant ; 34(1): 13-20, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15122312

RESUMO

Caspofungin, an echinocandin antifungal agent, is active against invasive Aspergillus and Candida infections. In a phase I study in healthy volunteers, mild transient increases in serum aminotransferases were observed with the concomitant administration of caspofungin and cyclosporin A (CsA). As a result, it is recommended that the concomitant use of the two drugs be limited to those settings with appropriate risk-benefit balance. We retrospectively assessed safety data in 14 patients with refractory invasive mycoses who were treated concomitantly with CsA and caspofungin before the drug was licensed in Spain. In all, 13 patients were adults (median age, 31.5 years; range, 14-67 years). The average duration of concomitant therapy was 15 days (range, 2-43 days). No clinically significant elevations of serum aminotransferases were observed, and no patient had concomitant therapy discontinued or interrupted due to a drug-related adverse event. In this study of a limited number of patients, the coadministration of caspofungin and CsA was generally well tolerated.


Assuntos
Ciclosporina/uso terapêutico , Micoses/tratamento farmacológico , Peptídeos Cíclicos/uso terapêutico , Adolescente , Adulto , Idoso , Antifúngicos/uso terapêutico , Antifúngicos/toxicidade , Caspofungina , Ensaios Enzimáticos Clínicos , Ciclosporina/toxicidade , Avaliação de Medicamentos , Quimioterapia Combinada , Equinocandinas , Feminino , Humanos , Lipopeptídeos , Masculino , Pessoa de Meia-Idade , Micoses/complicações , Peptídeos Cíclicos/toxicidade , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
15.
J Colloid Interface Sci ; 268(2): 400-7, 2003 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-14643240

RESUMO

The specific adsorption of Mg(+2) and S(2)O(-2)(8) ions onto the gamma-alumina particle surface has been demonstrated. An estimation algorithm based upon the correlation between electrophoretic mobility and conductivity increment experimental data, employing a dynamic Stern-layer theory, has been developed and used to get the adsorption parameters into the Stern layer for different gamma-alumina/Mg(+2) and S(2)O(-2)(8) aqueous solutions interface.

16.
Am J Med Genet A ; 118A(4): 353-7, 2003 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-12687667

RESUMO

We describe a girl with congenital heart defect (ventricular septal defect), facial, ear and bone anomalies, agenesis of corpus callosum and conventional cytogenetic studies showing tetrasomy 8p. The identity of the isochromosome was confirmed by fluorescent in situ hybridization (FISH) using painting, subtelomeric and alpha satellite probes for chromosome 8. The extra isochromosome was observed in 100% of cultured peripheral lymphocytes (47,XX,+i(8)(p10)), but normal chromosomes were recorded in cultured amniotic fluid. Microsatellites analysis of the patient's DNA with two markers mapping 8p showed three different peaks, and two markers mapping 8q showed two peaks. To the best of our knowledge, this patient represents the twelfth reported case of tetrasomy 8p. In addition, our report is the first case with a pure tetrasomy 8p in blood, (the other published cases are mosaic 8p), and the second case with a discordance of amniotic fluid and blood karyotypes [Robinow et al., 1989: Am J Med Genet 32:320-324].


Assuntos
Anormalidades Múltiplas/genética , Líquido Amniótico/química , Aneuploidia , Cromossomos Humanos Par 8/genética , Evolução Fatal , Feminino , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Cariotipagem , Repetições de Microssatélites
18.
J Colloid Interface Sci ; 255(1): 208-13, 2002 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-12702387

RESUMO

The primary electroviscous effect has been investigated in dilute suspensions of titanium oxide (anatase), the viscosities of which were measured by means of a capillary viscometer with automatic timing. The linear relation between viscosity and solids volume fraction was first determined at the isoelectric point of the particles when the particles are uncharged, and the electroviscous contribution to the intrinsic viscosity was then determined at other values of pH. Booth's theory (Proc. R. Soc. London Ser. A203, 533 (1950)) agrees well with the experimental results when the particle zeta potential is small and the double layer is thin (kappa alpha approximately 7.3), but agreement is poor when the double layer is thick (kappa alpha approximately 0.6).

19.
An Esp Pediatr ; 52(1): 47-51, 2000 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-11003859

RESUMO

UNLABELLED: Multiple type I pseudohypoaldosteronism (PHA-I) is an autosomal recessive condition with multiple target-organ unresponsiveness to aldosterone, manifested early after birth with severe salt-wasting and hyperkalemia. Case 1. Female infant born at term after an uneventful pregnancy. One female sibling died in the first week of life with hyperkalemia. The diagnosis of multiple PHA-I resulted from a picture of dehydratation, hyperkalemia and hyponatremia with increased plasma renin activity (PRA), plasma aldosterone and sweat electrolytes. The treatment consisted of salt and sodium bicarbonate supplements, restricted potassium intake, cation exchange resins and high fluid intake. During first year she was hospitalized for severe salt-losing crises. At 7 years of age, she needs salt and sodium bicarbonate supplements and cation exchange resins. She has a normal growth and neurodevelopment. Case 2. Seven-day female newborn with consanguinity in maternal family. Pregnancy and delivery were uncomplicated. On admission she was severely dehydrated with hyponatremia, hyperkalemia, metabolic acidosis and elevated PRA, plasma aldosterone and sweat electrolytes. She remained hospitalized for six months and she was dependent on high amounts of salt and sodium bicarbonate supplements, fluid intake and cation exchange resins. Growth and neurodevelopment are normal. CONCLUSIONS: Multiple PHA-I may be suspected in a newborn with salt-loss and hyperkalemia without glucocorticoid defect. The frequent episodes of dehydratation during the first year of life require long hospitalization. The improvement with age make possible an ambulatory control after the first year of life.


Assuntos
Pseudo-Hipoaldosteronismo/terapia , Feminino , Seguimentos , Humanos , Recém-Nascido , Pseudo-Hipoaldosteronismo/diagnóstico , Resultado do Tratamento
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