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1.
Enferm. infecc. microbiol. clín. (Ed. impr.) ; 36(1): 9-15, ene. 2018. ^graf, tab
Artigo em Espanhol | IBECS | ID: ibc-170108

RESUMO

Introducción: La transmisión vertical (TV) es relevante en la epidemiología global del virus de la inmunodeficiencia humana (VIH), representando la principal vía de infección en la edad pediátrica. Los objetivos del estudio fueron determinar la tasa de TV del VIH y su tendencia epidemiológica entre la población autóctona e inmigrante en Catalunya entre 2000-2014. Métodos: Estudio observacional prospectivo de parejas madre-hijo expuestas al VIH atendidas en 12 hospitales de Catalunya en 2000-2014. Se estimó la tasa de TV del VIH aplicando un modelo bayesiano de regresión logística. Se utilizó el software estadístico R y WinBUGS. Resultados: Se analizaron 909 gestantes, 1.009 embarazos y 1.032 niños; datos de origen materno en el 79,4% de las mujeres, el 32,7% inmigrantes y de estas el 53,0% de África subsahariana. La tasa de TV del VIH fue del 1,4% (14/1.023; IC95% 0,8-2,3). El riesgo de TV del VIH fue 10 veces menor en mujeres con buen control virológico (p=0,01), al que llegaron 2 tercios de ellas. No hubo diferencias en la tasa de TV del VIH entre mujeres autóctonas e inmigrantes (p=0,6). La proporción de mujeres inmigrantes fue significativamente mayor en el período 2008-2014 (p<0,0001), en relación con el diagnóstico de la infección por VIH (p<0,0001) y la administración de antirretrovirales (p=0,02) durante el embarazo, y con la viremia indetectable próxima al parto (p<0,001). Conclusiones: Existe un aumento progresivo de gestantes inmigrantes con VIH en Catalunya. Aun siendo la mayoría diagnosticadas durante el embarazo, la tasa de TV del VIH no fue diferente a la hallada en las mujeres autóctonas (AU)


Introduction: Mother-to-child transmission (MTCT) is relevant in the global epidemiology of human-immunodeficiency virus (HIV), as it represents the main route of infection in children. The study objectives were to determine the rate of HIV-MTCT and its epidemiological trend between the Spanish-born and immigrant population in Catalonia in the period 2000-2014. Methods: A prospective observational study of mother-child pairs exposed to HIV, treated in 12 hospitals in Catalonia in the period 2000-2014. HIV-MTCT rate was estimated using a Bayesian logistic regression model. R and WinBUGS statistical software were used. Results: The analysis included 909 pregnant women, 1,009 pregnancies, and 1,032 children. Data on maternal origin was obtained in 79.4% of women, of whom 32.7% were immigrants, with 53.0% of these from sub-Saharan Africa. The overall HIV-MTCT rate was 1.4% (14/1,023; 95% CI; 0.8-2.3). The risk of MTCT-HIV was 10-fold lower in women with good virological control (P=.01), which was achieved by two-thirds of them. The proportion of immigrants was significantly higher in the period 2008-2014 (P<.0001), for the HIV-diagnosis (P<.0001), and antiretroviral administration (P=.02) during pregnancy, and for undetectable viral load next to delivery (P<.001). There were no differences in the rate of MTCT-HIV among Spanish-born and immigrant women (P=.6). Conclusions: There is a gradual increase in HIV pregnant immigrants in Catalonia. Although most immigrant women were diagnosed during pregnancy, the rate of MTCT-HIV was no different from the Spanish-born women (AU)


Assuntos
Humanos , Masculino , Feminino , Gravidez , Síndrome de Imunodeficiência Adquirida/epidemiologia , HIV/isolamento & purificação , Emigrantes e Imigrantes/estatística & dados numéricos , Transmissão Vertical de Doença Infecciosa/estatística & dados numéricos , Complicações na Gravidez/epidemiologia , Síndrome de Imunodeficiência Adquirida/microbiologia , Estudos Prospectivos , Estudos de Coortes , Teorema de Bayes , Complicações na Gravidez/microbiologia
2.
Enferm Infecc Microbiol Clin ; 36(1): 9-15, 2018 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27609632

RESUMO

INTRODUCTION: Mother-to-child transmission (MTCT) is relevant in the global epidemiology of human-immunodeficiency virus (HIV), as it represents the main route of infection in children. The study objectives were to determine the rate of HIV-MTCT and its epidemiological trend between the Spanish-born and immigrant population in Catalonia in the period 2000-2014. METHODS: A prospective observational study of mother-child pairs exposed to HIV, treated in 12 hospitals in Catalonia in the period 2000-2014. HIV-MTCT rate was estimated using a Bayesian logistic regression model. R and WinBUGS statistical software were used. RESULTS: The analysis included 909 pregnant women, 1,009 pregnancies, and 1,032 children. Data on maternal origin was obtained in 79.4% of women, of whom 32.7% were immigrants, with 53.0% of these from sub-Saharan Africa. The overall HIV-MTCT rate was 1.4% (14/1,023; 95% CI; 0.8-2.3). The risk of MTCT-HIV was 10-fold lower in women with good virological control (P=.01), which was achieved by two-thirds of them. The proportion of immigrants was significantly higher in the period 2008-2014 (P<.0001), for the HIV-diagnosis (P<.0001), and antiretroviral administration (P=.02) during pregnancy, and for undetectable viral load next to delivery (P<.001). There were no differences in the rate of MTCT-HIV among Spanish-born and immigrant women (P=.6). CONCLUSIONS: There is a gradual increase in HIV pregnant immigrants in Catalonia. Although most immigrant women were diagnosed during pregnancy, the rate of MTCT-HIV was no different from the Spanish-born women.


Assuntos
Emigrantes e Imigrantes , Infecções por HIV/diagnóstico , Infecções por HIV/epidemiologia , Transmissão Vertical de Doença Infecciosa/estatística & dados numéricos , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Adulto , Criança , Feminino , Humanos , Gravidez , Estudos Prospectivos , Espanha/epidemiologia , Fatores de Tempo
3.
Pediatr. catalan ; 75(4): 158-162, oct.-dic. 2015. tab, ilus
Artigo em Catalão | IBECS | ID: ibc-147595

RESUMO

Fonament: els nounats tenen un risc incrementat de patir malaltia tuberculosa greu a causa de la seva condició d'immunosupressió. Objectiu: avaluar la incidència d'infecció tuberculosa o malaltia latent en una cohort de nounats exposats a un treballador sanitari d'una unitat neonatal diagnosticat de malaltia tuberculosa pulmonar, així com descriure les estratègies per al seu diagnòstic i tractament. Mètode: per al cribratge inicial es va fer una prova de tuberculina (PT) i una radiografia (Rx) toràcica. En cas de dubte, es practicaria una tomografia axial computada (TC) i un QuantiFERON(R)-TB Gold test. Descartada la infecció, es va iniciar tractament amb isoniazida fins als 6 mesos. A aquesta edat, es va fer una segona PT. Resultats: seixanta nounats van estar exposats al cas índex. La PT va ser negativa tant a l'inici com als 6 mesos. Un nadó presentava una imatge dubtosa en la radiografia toràcica, però la TC i el QuantiFERON(R)-TB Gold test van ser normals. El 88,6% dels nounats van iniciar profilaxi, es va contraindicar en el 3% i hi va haver negativa dels pares en el 8%. Tan sols un pacient va presentar efectes secundaris per isoniazida. El 78% dels casos va completar la profilaxi. Als 12 mesos no es va detectar cap cas de tuberculosi. Conclusions: la incidència d'infecció tuberculosa en nounats hospitalitzats exposats és baixa, però, a causa de la gravetat potencial, la profilaxi amb isoniazida fins als 6 mesos i un cribratge precoç amb una PT i una Rx toràcica poden ser una estratègia vàlida per minimitzar el risc


Fundamento. Los neonatos tienen un riesgo incrementado de sufrir enfermedad tuberculosa grave dada su condición de inmunosupresión. Objetivo. Evaluar la incidencia de infección tuberculosa o enfermedad latente en una cohorte de neonatos expuestos a un trabajador sanitario de una unidad neonatal diagnosticado de enfermedad tuberculosa pulmonar, así como describir las estrategias para su diagnóstico y tratamiento. Método. Para el cribado inicial se realizó una prueba de tuberculina (PT) yuna radiografía (Rx) torácica. En caso de duda, se practicaría tomografía axial computerizada (TC) y prueba del QuantiFERON®-TB Gold test. Descartada la infección, se inició tratamiento con isoniazida hasta los 6 meses. A esta edad se practicó una segunda PT. Resultados. Sesenta neonatos fueron expuestos. La PT fue negativa tanto al inicio como a los 6 meses. Un neonato presentaba una imagen dudosa en la radiografía torácica, pero la TC y el QuantiFERON®-TB Gold test fueron normales. El 88,6% de los neonatos iniciaron profilaxis, se contraindicó en el 3% y hubo negativa de los padres en el 8%. Tan sólo un paciente presentó efectos secundarios por isoniazida. El 78% de los casos completó la profilaxis. A los 12 meses no se detectó ningún caso de tuberculosis. Conclusiones. La incidencia de infección tuberculosa en neonatos hospitalizados expuestos es baja, pero, debido a la potencial gravedad, la profilaxis con isoniazida hasta los 6 meses y un cribado precoz con una PT y una Rx torácica pueden ser una estrategia válida para minimizar el riesgo (AU)


Background. Neonates have an increased risk to suffer severe tuber culosis due to their immunosuppressed condition. Objective. To assess the incidence of tuberculosis infection or latent disease in a cohort of newborns exposed to a healthcare worker of the neonatal unit, diagnosed with pulmonary tuberculosis disease, as well as describe diagnostic and treatment strategies. Method. Tuberculin skin test (TST) and chest X-rays were performed at the initial screening. Chest computed tomography (CT) and QuantiFERON®-TB Gold test were performed on cases where chest X-ray was not clear. Once all diagnostic tests were negative, infants were treated with isoniazid up to 6 months of age. At this age, a second TST was performed. Results. 60 newborns were exposed. TST were negative at baseline and at 6 months. One infant had an abnormal chest X-ray, with normal findings on CT and QuantiFERON®-TB Gold test. 88.6% neonates started with prophylaxis, it was contraindicated in 3% and was refused by the parents in 8%. Isoniazid was withdrawn due to side effects in only 1 infant. Prophylaxis was completed by 78% of patients. At 12 months, no cases of tuberculosis were reported. Conclusions. The tuberculous infection incidence in hospitalized neonates exposed is low but, due to the potential severity, prophylaxis with isoniazid until 6 months and an early screening with TST and chest X-ray is a valid strategy to minimized risks (AU)


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Criança , Tuberculose Pulmonar/metabolismo , Tuberculose Pulmonar/patologia , Terapêutica/métodos , Astenia/diagnóstico , Astenia/metabolismo , Agentes Comunitários de Saúde/classificação , Agentes Comunitários de Saúde/educação , Preparações Farmacêuticas/administração & dosagem , Tomografia Computadorizada por Raios X/métodos , Tuberculose Pulmonar/congênito , Tuberculose Pulmonar/genética , Terapêutica/classificação , Astenia/genética , Astenia/reabilitação , Agentes Comunitários de Saúde/ética , Agentes Comunitários de Saúde/psicologia , Preparações Farmacêuticas/metabolismo , Tomografia Computadorizada por Raios X/instrumentação
4.
Hum Immunol ; 76(2-3): 118-23, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25636568

RESUMO

Human cytomegalovirus (HCMV) infection promotes an expansion of NK-cells expressing the CD94/NKG2C receptor. We prospectively monitored the effects of HCMV on the NK-cell receptor (NKG2C, NKG2A, KIR, LILRB1) distribution in preterm infants. As compared to non-infected moderately preterm newborns (n=19, gestational age: 32-37 weeks), very preterm infants (n=5, gestational age: <32 weeks) suffering symptomatic postnatal HCMV infection displayed increased numbers of NKG2C+, KIR+ NK-cells, encompassed by a reduction of NKG2A+ NK-cells. A similar profile was observed in HCMV-negative newborns (n=4) with asymptomatic infection, during follow-up at ~4 and 10 months of age. Of note, viremia remained detectable in three symptomatic cases at ~10 months despite the persistent expansion of NKG2C+ NK-cells. Our study provides original insights on the dynamics of the imprint exerted by primary HCMV infection on the NK-cell compartment, revealing that the expansion of NKG2C+ NK-cells may be insufficient to control viral replication in very preterm infants.


Assuntos
Infecções por Citomegalovirus/imunologia , Citomegalovirus/fisiologia , Recém-Nascido Prematuro/metabolismo , Células Matadoras Naturais/imunologia , Subpopulações de Linfócitos/imunologia , Nascimento Prematuro/imunologia , Receptores de Células Matadoras Naturais/metabolismo , Diferenciação Celular , Proliferação de Células , Infecções por Citomegalovirus/complicações , Seguimentos , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Células Matadoras Naturais/virologia , Subpopulações de Linfócitos/virologia , Nascimento Prematuro/etiologia , Estudos Prospectivos , Espanha , Viremia
5.
J Clin Pathol ; 67(12): 1099-103, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25271213

RESUMO

AIMS: The causes of intellectual disability, which affects 1%-3% of the general population, are highly heterogeneous and the genetic defect remains unknown in around 40% of patients. The application of next-generation sequencing is changing the nature of biomedical diagnosis. This technology has quickly become the method of choice for searching for pathogenic mutations in rare uncharacterised genetic diseases. METHODS: Whole-exome sequencing was applied to a series of families affected with intellectual disability in order to identify variants underlying disease phenotypes. RESULTS: We present data of three families in which we identified the disease-causing mutations and which benefited from receiving a clinical diagnosis: Cornelia de Lange, Cohen syndrome and Dent-2 disease. The genetic heterogeneity and the variability in clinical presentation of these disorders could explain why these patients are difficult to diagnose. CONCLUSIONS: The accessibility to next-generation sequencing allows clinicians to save much time and cost in identifying the aetiology of rare diseases. The presented cases are excellent examples that demonstrate the efficacy of next-generation sequencing in rare disease diagnosis.


Assuntos
Análise Mutacional de DNA/métodos , Perfilação da Expressão Gênica/métodos , Deficiência Intelectual/genética , Adulto , Exoma , Feminino , Humanos , Masculino , Linhagem , Síndrome , Transcriptoma
6.
Gene ; 521(1): 82-6, 2013 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-23524024

RESUMO

Developmental delay and intellectual disability, which occur in 1-3% of the population, account for a large number of the cases regularly seen in genetic units. Chromosomal microarray analysis has been shown to be a valuable clinical diagnostic assay and it should be the first-tier clinical diagnostic test for individuals with these conditions. However and due to several difficulties such as the platform resolution, the cost, and the inexperience with genomic data bases, the implementation of this test in many cytogenetic laboratories has been delayed. In an attempt to provide more insights of the benefits derived by using the chromosomal microarray analysis, this study presents the experience of two clinical centers using three different microarray platforms. The results obtained using a custom microarray (KaryoArray®) and two different commercial medium- and high-resolution whole-genome oligonucleotide microarrays have been compared. An overall diagnostic yield of around 15% has been obtained. However, the custom microarray platform has been shown to be more convenient for a clinical setting, since it allows the detection of more pathogenic copy number variants and less common variants.


Assuntos
Deficiências do Desenvolvimento/genética , Deficiência Intelectual/genética , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Variações do Número de Cópias de DNA , Deficiências do Desenvolvimento/diagnóstico , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/diagnóstico , Repetições de Microssatélites
7.
Diabetes Res Clin Pract ; 97(2): 217-22, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22537519

RESUMO

OBJECTIVE: To analyse first-day-of-life glucose levels in infants of women with gestational diabetes (GDM) and the influence of maternal, gestational and peripartum factors on the development of neonatal hypoglycaemia. STUDY DESIGN: Prospective cohort study including newborns of GDM mothers. Capillary blood glucose (CBG) was measured serially on the first day of life. CBG values were defined as normal (≥ 2.5 mmol/l), mild hypoglycaemia (2.2-2.4 mmol/l), moderate hypoglycaemia (1.6-2.1 mmol/l) and severe hypoglycaemia (<1.6 mmol/l). RESULTS: One hundred and ninety infants were included: 23 (12.1%) presented mild, 20 (10.5%) moderate and only 5 (2.6%) severe hypoglycaemia. Hypoglycaemic infants were more frequently large-for-gestational-age (29.3% vs 11.3%, p=0.003), had lower umbilical cord pH (7.28 vs 7.31, p=0.03) and their mothers had more frequently been hyperglycaemic during labour (18.8% vs 8.5%, p=0.04). In multivariate analysis Pakistani origin (OR: 2.94; 95% CI: 1.14-7.55) and umbilical cord venous pH (OR: 0.04, 95% CI: 0.261-0.99) were significantly and independently associated with hypoglycaemia. CONCLUSIONS: Mild and moderate neonatal hypoglycaemias were common although severe episodes were unusual in infants of women with GDM. Hypoglycaemia is mainly influenced by ethnicity and cord blood pH, although maternal peripartum glycaemic control and large-for-gestational-age condition may also play a role.


Assuntos
Glicemia/metabolismo , Diabetes Gestacional/sangue , Sangue Fetal/metabolismo , Macrossomia Fetal/sangue , Hipoglicemia/sangue , Hipoglicemia/epidemiologia , Adulto , Estudos de Coortes , Diabetes Gestacional/epidemiologia , Diabetes Gestacional/etnologia , Feminino , Macrossomia Fetal/epidemiologia , Macrossomia Fetal/etnologia , Humanos , Hiperglicemia/sangue , Hipoglicemia/etnologia , Lactente , Recém-Nascido , Mães , Paquistão/etnologia , Gravidez , Estudos Prospectivos , Fatores de Risco , Espanha/epidemiologia
8.
J Clin Pathol ; 65(9): 844-6, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22461651

RESUMO

Idiopathic short stature is a multifactorial disease caused by defects in several genes. Among them, short stature homeobox-containing gene (SHOX) mutations have an incidence of 2%-15% within the idiopathic short population. The authors report a patient with moderate intellectual disability, short stature and no other radiological traits referred for subtelomeric screening. MLPA and sequencing results showed a heterozygous mutation in SHOX gene (A170P). This mutation has been described to fully cosegregate with Madelung deformity in patients affected with Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. The authors report the first case of idiopathic short stature due to the A170P mutation in a patient without any radiological trait. The A170P mutation is the most prevalent mutation in the Spanish gypsy population affected with short stature disorders. The authors strongly recommend SHOX screening for deletions, duplications and point mutations in patients affected with short stature although they do not present any radiological traits.


Assuntos
Transtornos do Crescimento/genética , Proteínas de Homeodomínio/genética , Deficiência Intelectual/genética , Mutação , Osteocondrodisplasias/genética , Adulto , Hibridização Genômica Comparativa , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Heterozigoto , Humanos , Fenótipo , Reação em Cadeia da Polimerase , Proteína de Homoeobox de Baixa Estatura
9.
Pediatr Infect Dis J ; 30(2): 173-5, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20802374

RESUMO

No data are available on 2009 H1N1 influenza in human immunodeficiency virus (HIV)-infected children, a highly susceptible and vulnerable population. We report 13 cases of pandemic influenza among a cohort of HIV-infected pediatric patients. Clinical features of H1N1 influenza were similar to those described in the general population. Most patients received antivirals on an outpatient basis. An uneventful evolution was observed in all patients, only 2 of whom required hospitalization. Influenza had no effect on the evolution of HIV infection.


Assuntos
Infecções por HIV/complicações , Vírus da Influenza A Subtipo H1N1/isolamento & purificação , Influenza Humana/epidemiologia , Adolescente , Assistência Ambulatorial/métodos , Antivirais/uso terapêutico , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Hospitalização/estatística & dados numéricos , Humanos , Influenza Humana/patologia , Influenza Humana/virologia , Masculino , Espanha/epidemiologia
10.
J Hum Genet ; 55(12): 822-6, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20861843

RESUMO

Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, hypopituitarism and a wide range of physical findings. We identified an inherited Xq26.2-Xq26.3 duplication in two brothers with severe mental retardation, hypotonia, growth delay, craniofacial disproportion and dental malocclusion. Chromosome analysis was normal and multiplex ligation-dependent probe amplification analysis detected duplication on Xq26. Further characterization by array comparative genomic hybridization and quantitative PCR helped to determine proximal and distal duplication breakpoints giving a size of approximately 2.8 Mb. The duplication encompasses 24 known genes, including the X-linked mental retardation genes ARHGEF6, PHF6, HPRT1 and SLC9A6. Clinical and molecular characterization of Xq duplications will shed more light into the phenotypic implication of functional disomy of X-chromosome genes.


Assuntos
Cromossomos Humanos X/genética , Genes Ligados ao Cromossomo X , Retardo Mental Ligado ao Cromossomo X/genética , Adolescente , Proteínas de Transporte/genética , Duplicação Gênica , Fatores de Troca do Nucleotídeo Guanina/genética , Humanos , Hipoxantina Fosforribosiltransferase/genética , Masculino , Fatores de Troca de Nucleotídeo Guanina Rho , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/genética , Trocadores de Sódio-Hidrogênio/genética , Trissomia/genética , Adulto Jovem
11.
Pediatr. catalan ; 70(2): 75-77, mar.-abr. 2010. ilus
Artigo em Espanhol | IBECS | ID: ibc-81790

RESUMO

Introducción. Dentro de las malformaciones craneofaciales, la macrostomía bilateral aislada es una de las malformaciones más inhabituales, con una frecuencia del 0,3% de los niños con fisuras faciales. Consiste en una hendidura orofacial entre el maxilar superior y el inferior derivada de una alteración del primer arco branquial. Su etiología es desconocida, pero una de las teorías más establecidas es el error de fusión entre el maxilar superior y el inferior durante el desarrollo embrionario. Suele aparecer de manera aislada, sin estar asociada a otros defectos, en contraposición a la macrostomía unilateral, que normalmente forma parte de un síndrome específico. Observación clínica. Exponemos el caso de un recién nacido de sexo femenino que presenta a la exploración un alargamiento bilateral de la comisura bucal de un centímetro de longitud mostrando una apertura amplia, sin otra malformación externa asociada. Todas las exploraciones complementarias que se realizaron para detectar malformaciones asociadas fueron normales. La evolución el periodo neonatal fue correcta, salvo una succión débil en las primeras horas de vida que desapareció progresivamente. Comentarios. Es importante realizar una minuciosa exploración física y diferentes exploraciones complementarias, como ecografía transfontanelar y abdominal, serie ósea y ecocardiograma para encontrar otras anormalidades, en especial si es de presentación unilateral. El tratamiento es quirúrgico con una evolución favorable y donde el proceso de deglución y fonación está conservado(AU)


Introduction. Isolated bilateral macrostomia is one of the rarest malformations within the craniofacial defects, with a frequency of 0.3% of children with facial clefts. It is defined by the presence of an orofacial cleft between the upper and lower jawbone caused by an alteration of the first branchial arch. Its etiology is unknown but one of the most established theories is the error of fusion between upper and lower jaw during embryonic development. Usually it appears isolated, without being associated with other defects, in contrast to unilateral macrostomia, which most often presents in the context of a specific syndrome. Case report. We describe the case of a female newborn that presented a bilateral one-centimeter elongation of the mouth, showing a large opening without other associated external malformations. Imaging studies excluded internal malformations. The evolution was optimal in the neonatal period except for a weak suction in the first hours of life that gradually improved. Comments. In the presence of macrostomia, it is important to perform a thorough evaluation, including physical examination and imaging studies such as transfontanellar and abdominal ultrasound, echocardiography and skeletal series to evaluate for other abnormalities, especially in cases of unilateral presentation. Surgical treatment usually results in successful outcome with preservation of swallowing and phonation(AU)


Assuntos
Humanos , Feminino , Recém-Nascido , Macrostomia/complicações , Macrostomia/diagnóstico , Macrostomia/genética , Síndrome , Macrostomia/fisiopatologia , Macrostomia/cirurgia , Fissura Palatina/complicações , Fissura Palatina/genética , Desenvolvimento Embrionário , Sinais e Sintomas
12.
Rev Esp Cardiol ; 61(9): 980-2, 2008 Sep.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-18775242

RESUMO

The cost-effectiveness of neonatal electrocardiographic (ECG) screening has been questioned. The objective of this study was to establish normal values for the QT interval in newborns of different ethnic origin. Between 2005 and 2006, ECGs were obtained during the first 48 h of life from 1305 at-term newborns at the Hospital del Mar in Barcelona, Spain. The mean corrected QT interval (QTc) was 417.79+/-28.47 ms. A QTc longer than 440 ms was observed in 240 newborns (18.33%). The frequency of a pathologic QTc in Spanish newborns was 17.9%, compared with 27.7% in those of Maghreb or Near Eastern origin (P=.016), and 28.2% in those of Indian or Pakistani origin (P=.033). The QTc may vary for genetic reasons. A routine neonatal ECG is advisable only in ethnic groups in which the QTc is lengthened, to help counter the greater risk of sudden death in these infants.


Assuntos
Eletrocardiografia , Grupos Étnicos , Humanos , Recém-Nascido , Valores de Referência , Espanha
13.
Rev. esp. cardiol. (Ed. impr.) ; 61(9): 980-982, sept. 2008. tab
Artigo em Espanhol | IBECS | ID: ibc-70626

RESUMO

La rentabilidad del cribado electrocardiográfico neonatal está en discusión. El objetivo es conocer los valores normales del intervalo QT en recién nacidos de diferentes orígenes étnicos. Durante 12 meses entre 2005 y 2006 se realizó un ECG a 1.305 neonatos a término en el Hospital del Mar (Barcelona), en las primeras 48 h de vida. El intervalo QTc medio fue 417,79 ± 28,47 ms. Se halló un QTc > 440 ms en 240 (18,33%) neonatos. Se encontró un 17,9% de QTc patológicos en neonatos autóctonos, frente a un 27,7% en el grupo de Magreb y Próximo Oriente (p = 0,016) y un 28,2% en el grupo de India-Pakistán (p = 0,033). El intervalo QTc puede ser diferente por causas genéticas. Sería recomendable hacer un ECG neonatal sólo en los grupos étnicos con QTc más largos, para evitar un posible mayor riesgo de muerte súbita del lactante (AU)


The cost-effectiveness of neonatal electrocardiographic (ECG) screening has been questioned. The objective of this study was to establish normal values for the QT interval in newborns of different ethnic origin. Between 2005 and 2006, ECGs were obtained during the first 48 h of life from 1305 atterm newborns at the Hospital del Mar in Barcelona, Spain. The mean corrected QT interval (QTc) was 417.79±28.47 ms. A QTc longer than 440 ms was observed in 240 newborns (18.33%). The frequency of a pathologic QTc in Spanish newborns was 17.9%, compared with 27.7% in those of Maghreb or Near Eastern origin (P=.016), and 28.2% in those of Indian or Pakistani origin (P=.033). The QTc may vary for genetic reasons. A routine neonatal ECG is advisable only in ethnic groups in which the QTc is lengthened, to help counter the greater risk of sudden death in these infants (AU)


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Síndrome do QT Longo/diagnóstico , Programas de Rastreamento , Eletrocardiografia , Grupos Étnicos , Síndrome do QT Longo/congênito , Síndrome do QT Longo/etnologia
14.
Clin Toxicol (Phila) ; 45(3): 295-8, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17453885

RESUMO

BACKGROUND: Different biological matrices are suitable for drug testing in newborns presenting with an acute withdrawal syndrome. CASE REPORT: The newborn of a mother reporting alprazolam use during pregnancy presented with respiratory distress and clinical features consistent with neonatal withdrawal syndrome or neonatal sepsis of vertical transmission. Alprazolam and its main metabolite (alpha-hydroxyalprazolam) were detected in cord serum, neonatal urine and also in neonatal hair, meconium and placenta, accounting for both acute and chronic exposure to this benzodiazepine during intrauterine life. At the same time, the clinical diagnosis of neonatal sepsis was confirmed by isolation of Streptococcus agalactiae from otic cultures. The infant received oxygen therapy and antibiotic treatment and recovered completely at the age of 11 days. Although no congenital anomalies or behavioral alterations were diagnosed during hospitalization, periodic follow-ups were requested to check for potential long-term effects of prenatal exposure to alprazolam.


Assuntos
Alprazolam/efeitos adversos , Ansiolíticos/efeitos adversos , Exposição Materna/efeitos adversos , Troca Materno-Fetal , Síndrome de Abstinência Neonatal/diagnóstico , Sepse/diagnóstico , Adulto , Alprazolam/análise , Ansiolíticos/análise , Diagnóstico Diferencial , Feminino , Sangue Fetal/química , Cabelo/química , Humanos , Recém-Nascido , Masculino , Mecônio/química , Síndrome de Abstinência Neonatal/fisiopatologia , Oxigenoterapia , Placenta/química , Gravidez , Sepse/microbiologia , Sepse/terapia , Infecções Estreptocócicas/diagnóstico , Infecções Estreptocócicas/tratamento farmacológico , Infecções Estreptocócicas/microbiologia , Streptococcus agalactiae/isolamento & purificação , Detecção do Abuso de Substâncias/métodos , Resultado do Tratamento , Urina/química
15.
Ther Drug Monit ; 29(1): 127-9, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17304161

RESUMO

The premature newborn of a mother who reported drinking mate during pregnancy presented with increased jitteriness and irritability, high-pitched cry, hypertonia in the limbs, and brisk tendon reflexes consistent with neonatal withdrawal syndrome. High concentrations of caffeine and theobromine were detected in various maternal and neonatal biological matrices (placenta, cord serum, neonatal urine, maternal and neonatal hair, meconium, and breast milk), demonstrating both acute and chronic prenatal and postnatal exposure to these methylxanthines, contained in high amounts in homemade mate. Symptoms progressively disappeared at 84 hours of age, although intermittent irritability was still present when the infant was discharged at 24 days of age. Fluctuating caffeine (and theobromine) content in different breast milk feeds likely generated the baby's irritability, due to either the physiological stimulatory effects of the methylxanthines or postnatal withdrawal syndrome as the substances cleared from the body. The mother was strongly advised to initiate a considerable, progressive, constant reduction of mate consumption to a maximum of 2 cups a day for the duration of breastfeeding.


Assuntos
Bebidas/efeitos adversos , Ilex paraguariensis/química , Síndrome de Abstinência Neonatal/etiologia , Efeitos Tardios da Exposição Pré-Natal , Bebidas/análise , Aleitamento Materno/efeitos adversos , Cafeína/análise , Feminino , Humanos , Recém-Nascido , Síndrome de Abstinência Neonatal/patologia , Extratos Vegetais/química , Folhas de Planta/química , Gravidez , Teobromina/análise
16.
Pediatrics ; 117(1): e129-31, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16361222

RESUMO

Areca-nut chewing occurs widely in South Asia and the Indian subcontinent. Here we present a case of neonatal withdrawal syndrome in an infant born to a woman who was a chronic areca-nut user. Arecoline, the principal neuroactive alkaloid in areca nuts, was found in the mother's placenta.


Assuntos
Areca/efeitos adversos , Síndrome de Abstinência Neonatal/etiologia , Transtornos Relacionados ao Uso de Substâncias/diagnóstico , Adulto , Feminino , Humanos , Recém-Nascido , Síndrome de Abstinência Neonatal/diagnóstico
17.
Pediatr Infect Dis J ; 24(10): 867-73, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16220083

RESUMO

INTRODUCTION: Many human immunodeficiency virus type 1 (HIV-1)-infected children have already failed treatment with 2 or even 3 classes of antiretrovirals. Coformulation of lopinavir with low dose ritonavir exhibits a potent antiretroviral effect. However, the data in heavily pretreated children are still scarce. This study evaluated the safety and effectiveness of combination therapy including lopinavir/ritonavir in children with prior exposure to all classes of oral antiretrovirals. METHODS: This was an open label multicenter observational study, in which data were reviewed according to a standardized protocol. The study population included all HIV-1-infected children with virologic failure (HIV-1 RNA >5000 copies/mL) followed in 12 Spanish hospitals for >12 months, experienced with the 3 classes of oral antiretrovirals, in whom a lopinavir/ritonavir-containing regimen was started. RESULTS: By March 2003, 45 patients had been treated with lopinavir/ritonavir for a median of 18 months (range, 3-28). The median age at baseline was 9.7 years (range, 4.3-17.1). The median times of prior treatment were 88 months (range, 31-145) with nucleoside reverse transcription inhibitors and 42 months (range, 19-63) with protease inhibitors. Twenty-five patients were classified as Centers for Disease Control and Prevention clinical category C. Median values for absolute and percentage CD4 at baseline were 501 (range, 6-1512) and 19% (range, 0.5-49), respectively, and plasma HIV-RNA was 5.0 log10 copies/mL (range, 4.1-6.1). During follow-up, 11 (24%) children switched from liquid to solid formulation. At 48 weeks, the median values for absolute and percentage CD4 increased by 199 cells/microL and 3%, respectively, and median plasma viral load declined 1.75 log10 copies/mL. Forty-two percent of children achieved a plasma RNA of <400 copies/mL (intent to treat analysis). Baseline genotypic resistance was available in 40 children. Nonresponders had 7.0 +/- 1.6 protease inhibitor-associated mutations at baseline compared with 4.8 +/- 1.7 in children achieving virologic suppression (P = 0.06). Adverse events were described in 18 children. Three children permanently discontinued and 4 transiently withdrew lopinavir/ritonavir. At 12 months, there were mild but not significant increases in plasma cholesterol and triglycerides. CONCLUSIONS: Lopinavir/ritonavir when given as part of salvage regimen is well-tolerated, although switching to pills is frequently required. The regimen has a potent and durable antiretroviral activity in most heavily pretreated children, despite the presence of multiple mutations to all classes of oral antiretrovirals.


Assuntos
Fármacos Anti-HIV/uso terapêutico , Infecções por HIV/tratamento farmacológico , HIV-1/efeitos dos fármacos , Pirimidinonas/efeitos adversos , Inibidores da Transcriptase Reversa/uso terapêutico , Ritonavir/efeitos adversos , Adolescente , Criança , Pré-Escolar , Quimioterapia Combinada , Feminino , Infecções por HIV/virologia , Humanos , Lopinavir , Masculino , Pirimidinonas/uso terapêutico , RNA Viral/sangue , Ritonavir/uso terapêutico , Terapia de Salvação , Resultado do Tratamento
18.
Pediatr Infect Dis J ; 24(8): 742-3, 2005 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16094236

RESUMO

We report an 11-year-old girl with acanthosis nigricans that appeared after 4 years of treatment with didanosine, stavudine and amprenavir. Laboratory studies showed hyperglycemia, hyperinsulinemia and hypertriglyceridemia. Withdrawal of amprenavir resulted in disappearance of acanthosis nigricans and improvement of metabolic abnormalities.


Assuntos
Acantose Nigricans/induzido quimicamente , Terapia Antirretroviral de Alta Atividade/efeitos adversos , Infecções por HIV/tratamento farmacológico , Criança , Feminino , Humanos
19.
Enferm Infecc Microbiol Clin ; 23(5): 279-312, 2005 May.
Artigo em Espanhol | MEDLINE | ID: mdl-15899180

RESUMO

OBJECTIVE: To update antiretroviral recommendations in antiretroviral therapy (ART) in HIV-infected children and adolescents. METHODS: Theses guidelines have been formulated by a panel of members of the Plan Nacional sobre el SIDA (PNS) and the Asociacion Espanola de Pediatria (AEP) by reviewing the current available evidence of efficacy, safety, and pharmacokinetics in pediatric studies. Three levels of evidence have been defined according to the source of data: Level A: randomized and controlled studies; Level B: Cohort and case-control studies; Level C: Descriptive studies and experts' opinion. RESULTS: When to start ART should be made on an individual basis, discussed with the family, considering the risk of progression according to age, CD4 and viral load, the ART-related complications and adherence. The ART goal is to reach a maximum and durable viral suppression. This is not always possible, even with clinical and immunologic improvement. The difficulties of permanent adherence and side-effects are resulting in a more conservative trend to initiate ART, and to less toxic and simpler strategies. Currently, combinations of at least three drugs are of first choice both in acute and chronic infection. They must include 2 NA 1 1 NN or 2 NA 1 1 PI. ART is recommended in all symptomatic patients and, with few exceptions, in all infants in the first year of life. Older asymptomatic children should start ART according to CD4 count, especially CD4 percentage, that vary with age. Despite potent salvage therapies, it is common not to reach viral undetectability. Therapeutical options when ART fails are scarce due to cross-resistance. The cause of failure must be identified. Occasionally, there exists clinical and/or immunological progression, and a change of therapy with at least two new drugs still active for the patient, is warranted with the aim of increasing the CD4 count to a lower level of risk. Toxicity and adherence must be regularly monitored. Some aspects about post exposure prophylaxis and coinfection with HCV or HBV are discussed. CONCLUSIONS: A higher level of evidence with regard to ART effectiveness and toxicity in pediatrics is currently available, leading to a more conservative and individualized approach. Clinical symptoms and CD4 count are the main determinants to start and change ART.


Assuntos
Síndrome de Imunodeficiência Adquirida/tratamento farmacológico , Fármacos Anti-HIV/uso terapêutico , HIV-1 , Adolescente , Terapia Antirretroviral de Alta Atividade/métodos , Terapia Antirretroviral de Alta Atividade/normas , Criança , Ensaios Clínicos como Assunto , Humanos , Espanha
20.
Med Sci Monit ; 10(5): CR179-84, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15114266

RESUMO

BACKGROUND: The purpose of our study was to assess the effects on infants of protease inhibitor (PI)-based antiretroviral therapy (ART) given to their HIV-positive mothers during pregnancy. MATERIAL/METHODS: A multicenter observational study was carried out at 11 centers in Spain, involving 124 HIV-1-infected pregnant women under ART and their infants. The mothers were classified according to the ART protocols used during pregnancy into two groups: group A, 52 women with > or =2 nucleoside reverse transcriptase inhibitors (NRTI) with or without NNRTI, for a mean time of 4.7+/-2.2 months; and group B, 72 women on protease inhibitor (PI)-based regimens for 5.4+/-2.6 months. RESULTS: Maternal therapy was well tolerated, with no serious adverse effects on pregnancy course. No newborn was infected with HIV-1. There were two deaths at birth (group B), both with extreme prematurity. Among the 126 ART-exposed infants (4 siblings), the most common toxicity was anemia (29%), without significant differences between the two groups. Low birthweight and prematurity were also common (21% and 14%, respectively). CONCLUSIONS: Optimal management of HIV-1 infection in women, regardless of their pregnancy status, can be recommended in more developed countries, without adverse effects on pregnancy outcome, and dramatically decreasing vertical transmission. HAART with PI versus potent ART during pregnancy was effective and safe for infants throughout the 12-month follow-up. In the light of recent advances in anti-HIV-1 pregnancy therapy, the long-term safety of these prophylactic and therapeutical strategies should be studied.


Assuntos
Antirretrovirais/uso terapêutico , Fármacos Anti-HIV/uso terapêutico , Feminino , Infecções por HIV , Soropositividade para HIV , HIV-1/metabolismo , Humanos , Recém-Nascido , Transmissão Vertical de Doença Infecciosa , Gravidez , Complicações Infecciosas na Gravidez , Resultado da Gravidez , Inibidores da Transcriptase Reversa/uso terapêutico , Espanha , Fatores de Tempo
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