RESUMO
INTRODUCCIÓN: El diagnóstico precoz de inmunodeficiencias primarias, como la inmunodeficiencia combinada grave (IDCG) y la agammaglobulinemia ligada al cromosoma X (ALX), mejora el pronóstico de los ninos afectados. La medida de los T-cell receptor excision circles (TRECS) y kappa-deleting recombination excision circles (KRECS) puede identificar neonatos con linfopenias T y/o B graves. OBJETIVO: Cuantificar los niveles de TRECS y de KRECS de manera prospectiva a partir de muestras de sangre seca de talón para identificar de manera correcta linfopenias T y/o B. MATERIALES Y MÉTODOS: Determinación de TRECS y de KRECS mediante reacción en cadena de polimerasa multiplex en neonatos nacidos entre febrero y mayo del 2014. Los puntos de corte empleados fueron: TRECS < 15 copias/_l, KRECS < 10 copias/_l, ACTB (_-actina) > 1.000 copias/_l. Se incluyeron controles internos (ALX, ataxia) y externos (IDCG). RESULTADOS: Fueron analizadas 1.068 muestras de las 1.088 recogidas (edad gestacional media: 39 semanas [38-40]; peso al nacer medio 3.238 g [2.930-3.520]). La media (mediana, min/máx) copias/_l obtenidas fueron las siguientes; TRECS 145 (132, 8/503), KRECS 82 (71, 7/381) y ACTB 2838 (2763, 284/7710). Veinte muestras (1,87%) fueron insuficientes para el análisis. El retest fue necesario en un neonato (0,09%), confirmándose resultados normales posteriormente. Empleando puntos de corte inferiores (TREC < 8 y KREC < 4 copias/_l), todas las muestras resultaron normales y se identificaron los controles internos y externos correctamente. CONCLUSIÓN: Es el primer estudio prospectivo realizado en Espana usando el ensayo TREC/KREC/ACTB para identificar linfopenias graves. Es necesario establecer puntos de corte adecuados para nuestra población, mejorar la toma de muestras, su almacenamiento y la preparación de las mismas
INTRODUCTION: Early diagnosis of primary immunodeficiency such as severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) improves outcome of affected infants/children. The measurement of T-cell receptor excision circles (TRECS) and kappadeleting recombination excision circles (KRECS) can identify neonates with severe T or B-cell lymphopenia. OBJECTIVES: To determine TRECS and KRECS levels from prospectively collected dried blood spot samples (DBS) and to correctly identify severe T and B-cell lymphopenia. MATERIAL AND METHODS: Determination of TRECS and KRECS by multiplex PCR from neonates born in two tertiary hospitals in Seville between February 2014 and May 2014. PCR cut-off levels: TRECS<15 copies/_l, KRECS<10copies/_l, ACTB (_-actin)>1000 copies/_l. Internal (XLA, ataxia telangiectasia) and external (SCID) controls were included. RESULTS: A total of 1068 out of 1088 neonates (mean GA 39 weeks (38-40) and BW 3238 g (2930-3520) were enrolled in the study. Mean (median, min/max) copies/_l, were as follows: TRECS 145 (132, 8/503), KRECS 82 (71, 7/381), and ACTB 2838 (2763, 284/7710). Twenty samples (1.87%) were insufficient. Resampling was needed in one neonate (0.09%), subsequently giving a normal result. When using lower cut-offs (TRECS<8 and KRECS<4 copies/_l), all the samples tested were normal and the internal and external controls were correctly identified. CONCLUSION: This is the first prospective pilot study in Spain using TRECS/KRECS/ACTB-assay, describing the experience and applicability of this method to identify severe lymphopenias. The ideal cut-off remains to be established in our population. Quality of sampling, storage and preparation need to be further improved
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Triagem Neonatal/métodos , Imunodeficiência Combinada Severa/epidemiologia , Projetos Piloto , Linfopenia/epidemiologia , Linfócitos B , Linfócitos T , Agamaglobulinemia/epidemiologiaRESUMO
INTRODUCTION: Early diagnosis of primary immunodeficiency such as severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) improves outcome of affected infants/children. The measurement of T-cell receptor excision circles (TRECS) and kappa-deleting recombination excision circles (KRECS) can identify neonates with severe T or B-cell lymphopenia. OBJECTIVES: To determine TRECS and KRECS levels from prospectively collected dried blood spot samples (DBS) and to correctly identify severe T and B-cell lymphopenia. MATERIAL AND METHODS: Determination of TRECS and KRECS by multiplex PCR from neonates born in two tertiary hospitals in Seville between February 2014 and May 2014. PCR cut-off levels: TRECS<15 copies/µl, KRECS<10 copies/µl, ACTB (ß-actin)>1000 copies/µl. Internal (XLA, ataxia telangiectasia) and external (SCID) controls were included. RESULTS: A total of 1068 out of 1088 neonates (mean GA 39 weeks (38-40) and BW 3238g (2930-3520) were enrolled in the study. Mean (median, min/max) copies/µl, were as follows: TRECS 145 (132, 8/503), KRECS 82 (71, 7/381), and ACTB 2838 (2763, 284/7710). Twenty samples (1.87%) were insufficient. Resampling was needed in one neonate (0.09%), subsequently giving a normal result. When using lower cut-offs (TRECS<8 and KRECS<4 copies/µl), all the samples tested were normal and the internal and external controls were correctly identified. CONCLUSION: This is the first prospective pilot study in Spain using TRECS/KRECS/ACTB-assay, describing the experience and applicability of this method to identify severe lymphopenias. The ideal cut-off remains to be established in our population. Quality of sampling, storage and preparation need to be further improved.
Assuntos
Agamaglobulinemia/diagnóstico , Agamaglobulinemia/genética , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Linfopenia/diagnóstico , Triagem Neonatal/métodos , Imunodeficiência Combinada Severa/diagnóstico , Imunodeficiência Combinada Severa/genética , Agamaglobulinemia/sangue , Algoritmos , Linfócitos B , DNA Circular/sangue , Doenças Genéticas Ligadas ao Cromossomo X/sangue , Humanos , Recém-Nascido , Estudos Longitudinais , Projetos Piloto , Estudos Prospectivos , Imunodeficiência Combinada Severa/sangue , Índice de Gravidade de Doença , Espanha , Linfócitos TRESUMO
The anomalies related to omphalomesenteric duct remnant constitute an uncommon cause of intestinal obstruction, of which Meckel"s diverticulum and its variants represent the most important clinical presentation. In most cases they are asymptomatic and usually affect young patients. When symptomatic, they usually present episodes of gastrointestinal bleeding or acute abdomen syndromes caused by strangulation of intestinal loops as a result of fibrous intraabdominal remnants or inflammation produced by the diverticulum. In most cases, the unexpected presence of these alterations makes intraoperative diagnosis necessary. Treatment is surgical and consists in exeresis of the diverticulum or the fibrous band causing the clinical picture. We report two cases of persistence of the vitelline duct resolved by laparoscopic approach.
Assuntos
Doenças do Íleo/etiologia , Obstrução Intestinal/etiologia , Divertículo Ileal/complicações , Ducto Vitelino/anormalidades , Adolescente , Adulto , Feminino , Humanos , Doenças do Íleo/diagnóstico por imagem , Doenças do Íleo/cirurgia , Obstrução Intestinal/diagnóstico por imagem , Obstrução Intestinal/cirurgia , Laparoscopia , Masculino , Divertículo Ileal/diagnóstico por imagem , Divertículo Ileal/cirurgia , Radiografia , Resultado do TratamentoRESUMO
No disponible
Assuntos
Humanos , Ribavirina , Hepacivirus , Hepatite C Crônica , Resultado do Tratamento , Antivirais , Interferons , GenótipoRESUMO
The prevalence of red deer hypodermosis and the life cycle of Hypodermia diana Brauer 1858 in three provinces of the south of Spain, Córdoba, Jaen and Ciudad Real, were studied by inspecting 254, thirty-eight and thirty-five deer from each province respectively. The prevalence of infestations was: Córdoba, 87.75%; Jaen, 92.10%, Ciudad Real, 91.42%. From this we deduced an overall prevalence of 88.67%, comprising 88.23% in male deer and 89.96% in female deer. The intensity of the parasitism in 213 of the 245 animals from Córdoba varied between one warble per animal to more than 100 in 28 of the inspected animals. The chronology of the life cycle during the hunting period (October to the end of February) was investigated.
Assuntos
Cervos/parasitologia , Dípteros/crescimento & desenvolvimento , Hipodermose/veterinária , Animais , Dípteros/isolamento & purificação , Feminino , Hipodermose/epidemiologia , Larva/isolamento & purificação , Masculino , Prevalência , Estações do Ano , Espanha/epidemiologiaRESUMO
We present a retrospective study on the value of peroperative cholangiography (POC) in geriatric patients submitted to elective surgery of the biliary tract. We analyze the results of the present series and compare them with a previous study of 200 cases of cholelithiasis in the general population. Our conclusion is that in geriatric patients, POC should be a routine practice in order to avoid an unnecessary choledochotomy and/or residual lithiasis post-cholecystectomy.