RESUMEN
Case introduction: In this work we present a female infant patient with epilepsy of infancy with migrating focal seizures (EIMFS). Although many pharmacological schemes were attempted, she developed an encephalopathy with poor response to antiepileptic drugs and progressive cerebral dysfunction. Aim: To present the pharmacological response and therapeutic drug monitoring of a paediatric patient with a severe encephalopathy carrying a genetic variant in KCNT1 gene, whose identification led to include quinidine (QND) in the treatment regimen as an antiepileptic drug. Case report: Patient showed slow rhythmic activity (theta range) over left occipital areas with temporal propagation and oculo-clonic focal seizures and without tonic spasms three months after birth. At the age of 18 months showed severe impairments of motor and intellectual function with poor eye contact. When the patient was 4 years old, a genetic variant in the exon 24 of the KCNT1 gene was found. This led to the diagnosis of EIMFS. Due to antiepileptic treatment failed to control seizures, QND a KCNT1 blocker, was introduced as a therapeutic alternative besides topiramate (200 mg/day) and nitrazepam (2 mg/day). Therapeutic drug monitoring (TDM) of QND plasma levels needed to be implemented to establish individual therapeutic range and avoid toxicity. TDM for dose adjustment was performed to establish the individual therapeutic range of the patient. Seizures were under control with QND levels above 1.5 mcg/ml (65-70 mg/kg q. i.d). In addition, QND levels higher than 4.0 mcg/ml, were related to higher risk of suffering arrhythmia due to prolongation of QT segment. Despite initial intention to withdrawal topiramate completely, QND was no longer effective by itself and failed to maintain seizures control. Due to this necessary interaction between quinidine and topiramate, topiramate was stablished in a maintenance dose of 40 mg/day. Conclusion: The implementation of Precision Medicine by using tools such as Next Generation Sequencing and TDM led to diagnose and select a targeted therapy for the treatment of a KCNT1-related epilepsy in a patient presented with EIMFS in early infancy and poor response to antiepileptic drugs. QND an old antiarrhythmic drug, due to its activity as KCNT1 channel blocker, associated to topiramate resulted in seizures control. Due to high variability observed in QND levels, TDM and pharmacokinetic characterization allowed to optimize drug regimen to maintain QND concentration between the individual therapeutic range and diminish toxicity.
RESUMEN
The aim of this study was to analyze the isotopic composition in muscle of striped weakfish Cynoscion guatucupa from Southwest Atlantic Ocean in order to evaluate a possible variation in δ13C and δ15N in response to dietary shifts that occur as animals grow. We also explored for isotopic evidence of differences between sample locations. The results showed an agreement between isotope analysis and previous conventional studies. Differences in the isotope composition between sampling location were not observed. A positive relation exists between isotope values and total body length of the animals. The Cluster analysis defined three groups of size classes, validated by the MDS. Differences in the relative consumption of prey species in each size class were also observed performing isotope mixing models (SIAR). Variation in δ15N among size classes would be associated with the consumption of a different type of prey as animals grow. Small striped weakfish feed on small crustaceans and progressively increase their consumption of fish (anchovy, Engraulis anchoita), increasing by this way their isotope values. On the other hand, differences in δ13C values seemed to be related to age-class specific spatial distribution patterns. Therefore, large and small striped weakfish remain specialized but feeding on different prey at different trophic levels. These results contribute to the study of the diet of striped weakfish, improve the isotopic ecology models and highlight on the importance of accounting for variation in the isotopic composition in response to dietary shifts with the size of one of the most important fishery resources in the region.(AU)
O objetivo deste estudo foi analisar a composição isotópica no músculo de Cynoscion guatucupa no Oceano Atlântico Sul Ocidental, a fim de avaliar uma possível variação de δ13C e δ15N como resposta às mudanças ontogenéticas na dieta. Foram também exploradas evidências isotópicas de diferenças entre os locais de amostragem. Os resultados mostraram uma concordância entre a análise de isótopos e os estudos convencionais prévios. Diferenças na composição isotópica entre locais de amostragem não foram observadas. Uma relação positiva existe entre valores isotópicos e comprimento total dos animais. A análise de cluster definiu três grupos de classes de tamanho, validados pelo MDS. Foram também observadas, através de modelos isotópicos mistos (SIAR), diferenças no consumo relativo de espécies de presas para cada classe de tamanho. Variações em δ15N entre as classes de tamanho estariam associadas ao consumo de diferentes tipos de presas ao longo do crescimento dos animais. Indivíduos pequenos alimentam-se de pequenos crustáceos e progressivamente aumentam seu consumo de peixes (Engraulis anchoita), aumentando assim os seus valores isotópicos. Por outro lado, as diferenças nos valores de δ13C parecem estar relacionadas com variações no padrão de distribuição espacial específico de cada classe idade. Desta maneira, tanto C. guatucupa grandes como pequenos permanecem especializados, porém alimentando-se de presas diferentes, em diferentes níveis tróficos e em diferentes áreas. Estes resultados contribuem para o estudo da dieta de C. guatucupa, melhoram os modelos de ecologia isotópica e ressaltam a importância de se considerar a variação na composição isotópica na resposta às mudanças de dieta relacionadas ao tamanho de um dos principais recursos pesqueiros da região.(AU)
Asunto(s)
Animales , Perciformes/fisiología , Conducta Alimentaria , Isótopos/análisis , Océano AtlánticoRESUMEN
Abstract The aim of this study was to analyze the isotopic composition in muscle of striped weakfish Cynoscion guatucupa from Southwest Atlantic Ocean in order to evaluate a possible variation in δ13C and δ15N in response to dietary shifts that occur as animals grow. We also explored for isotopic evidence of differences between sample locations. The results showed an agreement between isotope analysis and previous conventional studies. Differences in the isotope composition between sampling location were not observed. A positive relation exists between isotope values and total body length of the animals. The Cluster analysis defined three groups of size classes, validated by the MDS. Differences in the relative consumption of prey species in each size class were also observed performing isotope mixing models (SIAR). Variation in δ15N among size classes would be associated with the consumption of a different type of prey as animals grow. Small striped weakfish feed on small crustaceans and progressively increase their consumption of fish (anchovy, Engraulis anchoita), increasing by this way their isotope values. On the other hand, differences in δ13C values seemed to be related to age-class specific spatial distribution patterns. Therefore, large and small striped weakfish remain specialized but feeding on different prey at different trophic levels. These results contribute to the study of the diet of striped weakfish, improve the isotopic ecology models and highlight on the importance of accounting for variation in the isotopic composition in response to dietary shifts with the size of one of the most important fishery resources in the region.
Resumo O objetivo deste estudo foi analisar a composição isotópica no músculo de Cynoscion guatucupa no Oceano Atlântico Sul Ocidental, a fim de avaliar uma possível variação de δ13C e δ15N como resposta às mudanças ontogenéticas na dieta. Foram também exploradas evidências isotópicas de diferenças entre os locais de amostragem. Os resultados mostraram uma concordância entre a análise de isótopos e os estudos convencionais prévios. Diferenças na composição isotópica entre locais de amostragem não foram observadas. Uma relação positiva existe entre valores isotópicos e comprimento total dos animais. A análise de cluster definiu três grupos de classes de tamanho, validados pelo MDS. Foram também observadas, através de modelos isotópicos mistos (SIAR), diferenças no consumo relativo de espécies de presas para cada classe de tamanho. Variações em δ15N entre as classes de tamanho estariam associadas ao consumo de diferentes tipos de presas ao longo do crescimento dos animais. Indivíduos pequenos alimentam-se de pequenos crustáceos e progressivamente aumentam seu consumo de peixes (Engraulis anchoita), aumentando assim os seus valores isotópicos. Por outro lado, as diferenças nos valores de δ13C parecem estar relacionadas com variações no padrão de distribuição espacial específico de cada classe idade. Desta maneira, tanto C. guatucupa grandes como pequenos permanecem especializados, porém alimentando-se de presas diferentes, em diferentes níveis tróficos e em diferentes áreas. Estes resultados contribuem para o estudo da dieta de C. guatucupa, melhoram os modelos de ecologia isotópica e ressaltam a importância de se considerar a variação na composição isotópica na resposta às mudanças de dieta relacionadas ao tamanho de um dos principais recursos pesqueiros da região.
Asunto(s)
Animales , Isótopos de Carbono/análisis , Conducta Alimentaria/fisiología , Peces/fisiología , Isótopos de Nitrógeno/análisis , Océano Atlántico , Músculos/químicaRESUMEN
The aim of this study was to analyze the isotopic composition in muscle of striped weakfish Cynoscion guatucupa from Southwest Atlantic Ocean in order to evaluate a possible variation in δ13C and δ15N in response to dietary shifts that occur as animals grow. We also explored for isotopic evidence of differences between sample locations. The results showed an agreement between isotope analysis and previous conventional studies. Differences in the isotope composition between sampling location were not observed. A positive relation exists between isotope values and total body length of the animals. The Cluster analysis defined three groups of size classes, validated by the MDS. Differences in the relative consumption of prey species in each size class were also observed performing isotope mixing models (SIAR). Variation in δ15N among size classes would be associated with the consumption of a different type of prey as animals grow. Small striped weakfish feed on small crustaceans and progressively increase their consumption of fish (anchovy, Engraulis anchoita), increasing by this way their isotope values. On the other hand, differences in δ13C values seemed to be related to age-class specific spatial distribution patterns. Therefore, large and small striped weakfish remain specialized but feeding on different prey at different trophic levels. These results contribute to the study of the diet of striped weakfish, improve the isotopic ecology models and highlight on the importance of accounting for variation in the isotopic composition in response to dietary shifts with the size of one of the most important fishery resources in the region.
Asunto(s)
Isótopos de Carbono/análisis , Conducta Alimentaria/fisiología , Peces/fisiología , Isótopos de Nitrógeno/análisis , Animales , Océano Atlántico , Músculos/químicaRESUMEN
Abstract The aim of this study was to analyze the isotopic composition in muscle of striped weakfish Cynoscion guatucupa from Southwest Atlantic Ocean in order to evaluate a possible variation in 13C and 15N in response to dietary shifts that occur as animals grow. We also explored for isotopic evidence of differences between sample locations. The results showed an agreement between isotope analysis and previous conventional studies. Differences in the isotope composition between sampling location were not observed. A positive relation exists between isotope values and total body length of the animals. The Cluster analysis defined three groups of size classes, validated by the MDS. Differences in the relative consumption of prey species in each size class were also observed performing isotope mixing models (SIAR). Variation in 15N among size classes would be associated with the consumption of a different type of prey as animals grow. Small striped weakfish feed on small crustaceans and progressively increase their consumption of fish (anchovy, Engraulis anchoita), increasing by this way their isotope values. On the other hand, differences in 13C values seemed to be related to age-class specific spatial distribution patterns. Therefore, large and small striped weakfish remain specialized but feeding on different prey at different trophic levels. These results contribute to the study of the diet of striped weakfish, improve the isotopic ecology models and highlight on the importance of accounting for variation in the isotopic composition in response to dietary shifts with the size of one of the most important fishery resources in the region.
Resumo O objetivo deste estudo foi analisar a composição isotópica no músculo de Cynoscion guatucupa no Oceano Atlântico Sul Ocidental, a fim de avaliar uma possível variação de 13C e 15N como resposta às mudanças ontogenéticas na dieta. Foram também exploradas evidências isotópicas de diferenças entre os locais de amostragem. Os resultados mostraram uma concordância entre a análise de isótopos e os estudos convencionais prévios. Diferenças na composição isotópica entre locais de amostragem não foram observadas. Uma relação positiva existe entre valores isotópicos e comprimento total dos animais. A análise de cluster definiu três grupos de classes de tamanho, validados pelo MDS. Foram também observadas, através de modelos isotópicos mistos (SIAR), diferenças no consumo relativo de espécies de presas para cada classe de tamanho. Variações em 15N entre as classes de tamanho estariam associadas ao consumo de diferentes tipos de presas ao longo do crescimento dos animais. Indivíduos pequenos alimentam-se de pequenos crustáceos e progressivamente aumentam seu consumo de peixes (Engraulis anchoita), aumentando assim os seus valores isotópicos. Por outro lado, as diferenças nos valores de 13C parecem estar relacionadas com variações no padrão de distribuição espacial específico de cada classe idade. Desta maneira, tanto C. guatucupa grandes como pequenos permanecem especializados, porém alimentando-se de presas diferentes, em diferentes níveis tróficos e em diferentes áreas. Estes resultados contribuem para o estudo da dieta de C. guatucupa, melhoram os modelos de ecologia isotópica e ressaltam a importância de se considerar a variação na composição isotópica na resposta às mudanças de dieta relacionadas ao tamanho de um dos principais recursos pesqueiros da região.
RESUMEN
Abstract The aim of this study was to analyze the isotopic composition in muscle of striped weakfish Cynoscion guatucupa from Southwest Atlantic Ocean in order to evaluate a possible variation in 13C and 15N in response to dietary shifts that occur as animals grow. We also explored for isotopic evidence of differences between sample locations. The results showed an agreement between isotope analysis and previous conventional studies. Differences in the isotope composition between sampling location were not observed. A positive relation exists between isotope values and total body length of the animals. The Cluster analysis defined three groups of size classes, validated by the MDS. Differences in the relative consumption of prey species in each size class were also observed performing isotope mixing models (SIAR). Variation in 15N among size classes would be associated with the consumption of a different type of prey as animals grow. Small striped weakfish feed on small crustaceans and progressively increase their consumption of fish (anchovy, Engraulis anchoita), increasing by this way their isotope values. On the other hand, differences in 13C values seemed to be related to age-class specific spatial distribution patterns. Therefore, large and small striped weakfish remain specialized but feeding on different prey at different trophic levels. These results contribute to the study of the diet of striped weakfish, improve the isotopic ecology models and highlight on the importance of accounting for variation in the isotopic composition in response to dietary shifts with the size of one of the most important fishery resources in the region.
Resumo O objetivo deste estudo foi analisar a composição isotópica no músculo de Cynoscion guatucupa no Oceano Atlântico Sul Ocidental, a fim de avaliar uma possível variação de 13C e 15N como resposta às mudanças ontogenéticas na dieta. Foram também exploradas evidências isotópicas de diferenças entre os locais de amostragem. Os resultados mostraram uma concordância entre a análise de isótopos e os estudos convencionais prévios. Diferenças na composição isotópica entre locais de amostragem não foram observadas. Uma relação positiva existe entre valores isotópicos e comprimento total dos animais. A análise de cluster definiu três grupos de classes de tamanho, validados pelo MDS. Foram também observadas, através de modelos isotópicos mistos (SIAR), diferenças no consumo relativo de espécies de presas para cada classe de tamanho. Variações em 15N entre as classes de tamanho estariam associadas ao consumo de diferentes tipos de presas ao longo do crescimento dos animais. Indivíduos pequenos alimentam-se de pequenos crustáceos e progressivamente aumentam seu consumo de peixes (Engraulis anchoita), aumentando assim os seus valores isotópicos. Por outro lado, as diferenças nos valores de 13C parecem estar relacionadas com variações no padrão de distribuição espacial específico de cada classe idade. Desta maneira, tanto C. guatucupa grandes como pequenos permanecem especializados, porém alimentando-se de presas diferentes, em diferentes níveis tróficos e em diferentes áreas. Estes resultados contribuem para o estudo da dieta de C. guatucupa, melhoram os modelos de ecologia isotópica e ressaltam a importância de se considerar a variação na composição isotópica na resposta às mudanças de dieta relacionadas ao tamanho de um dos principais recursos pesqueiros da região.
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Commerson's dolphins (Cephalorhynchus c. commersonii) and Peale's dolphins (Lagenorhynchus australis) are two of the most common species of cetaceans in the coastal waters of southwest South Atlantic Ocean. Both species are listed as Data Deficient by the IUCN, mainly due to the lack of information about population sizes and trends. The goal of this study was to build spatially explicit models for the abundance of both species in relation to environmental variables using data collected during eight scientific cruises along the Patagonian shelf. Spatial models were constructed using generalized additive models. In total, 88 schools (212 individuals) of Commerson's dolphin and 134 schools (465 individuals) of Peale's dolphin were recorded in 8,535 km surveyed. Commerson's dolphin was found less than 60 km from shore; whereas Peale's dolphins occurred over a wider range of distances from the coast, the number of animals sighted usually being larger near or far from the coast. Fitted models indicate overall abundances of approximately 22,000 Commerson's dolphins and 20,000 Peale's dolphins in the total area studied. This work provides the first large-scale abundance estimate for Peale's dolphin in the Atlantic Ocean and an update of population size for Commerson's dolphin. Additionally, our results contribute to baseline data on suitable habitat conditions for both species in southern Patagonia, which is essential for the implementation of adequate conservation measures.
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Delfines/fisiología , Ecosistema , Animales , Océano Atlántico , Modelos Teóricos , Densidad de PoblaciónRESUMEN
Based on published records and new data accumulated by the authors, we generated a list of the helminth parasites of marine mammals from off the coast of Argentina. We found 49 reports of helminths parasitizing cetaceans and pinnipeds from Argentina from 1952 to 2015. The list includes 54 taxa of helminths (8 acanthocephalans, 24 nematodes, 11 cestodes and 11 trematodes) associated with 18 species of cetaceans and 5 species of pinnipeds. Most of the records represent adults (5 acanthocephalans, 16 nematodes, 6 cestodes and 11 trematodes), followed by larvae (10 nematodes and 3 metacestodes) and juveniles (4 acanthocephalans and 2 cestodes). The checklist contains 24 named species (5 acanthocephalans, 8 nematodes, 4 cestodes and 7 trematodes) and 30 undetermined helminth taxa (3 acanthocephalans, 16 nematodes, 7 cestodes and 4 trematodes). The present account contains a parasite/host lists and information on the habitat, developmental stage and distribution of the parasites listed, repositories of their type and voucher specimens and references. A host-parasite list is also presented. The data compiled on the helminth of marine mammals from Argentina in the present study revealed gaps in the knowledge of their taxonomic identification, composition, distribution, host specificity and life cycles. These gaps are also briefly discussed in order to provide an outline for future research.
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Helmintos/clasificación , Mamíferos/parasitología , Distribución Animal , Animales , Argentina , Lista de Verificación , Femenino , Helmintos/fisiología , Especificidad del Huésped , Masculino , Mamíferos/clasificación , Océanos y MaresRESUMEN
An analysis of geomorphic system's response to change in human and natural drivers in some areas within the Río de la Plata basin is presented. The aim is to determine whether an acceleration of geomorphic processes has taken place in recent years and, if so, to what extent it is due to natural (climate) or human (land-use) drivers. Study areas of different size, socio-economic and geomorphic conditions have been selected: the Río de la Plata estuary and three sub-basins within its watershed. Sediment cores were extracted and dated ((210)Pb) to determine sedimentation rates since the end of the 19th century. Rates were compared with time series on rainfall as well as human drivers such as population, GDP, livestock load, crop area, energy consumption or cement consumption, all of them related to human capacity to disturb land surface. Data on river discharge were also gathered. Results obtained indicate that sedimentation rates during the last century have remained essentially constant in a remote Andean basin, whereas they show important increases in the other two, particularly one located by the São Paulo metropolitan area. Rates in the estuary are somewhere in between. It appears that there is an intensification of denudation/sedimentation processes within the basin. Rainfall remained stable or varied very slightly during the period analysed and does not seem to explain increases of sedimentation rates observed. Human drivers, particularly those more directly related to capacity to disturb land surface (GDP, energy or cement consumption) show variations that suggest human forcing is a more likely explanation for the observed change in geomorphic processes. It appears that a marked increase in denudation, of a "technological" nature, is taking place in this basin and leading to an acceleration of sediment supply. This is coherent with similar increases observed in other regions.
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Monitoreo del Ambiente/métodos , Deslizamientos de Tierra/estadística & datos numéricos , Ríos/química , Brasil , Contaminación Ambiental/estadística & datos numéricos , Geografía , Sedimentos Geológicos/química , Radioisótopos de Plomo/análisis , Población , Factores SocioeconómicosRESUMEN
El trasplante renal es la terapia de elección para el manejo de la Enfermedad Renal Crónica Terminal (ERCT) en pediatría. La evaluación previa debe ser cuidadosa, para minimizar los riesgos del trasplante y de las condiciones que afecten la sobrevida del paciente y del injerto. El estudio comprende una adecuada selección del donante, y una evaluación completa del paciente, que debe considerar la etiología de la ERCT, las infecciones e inmunizaciones que ha presentado el paciente a lo largo de su vida, así como el estado serológico para ciertas infecciones relevantes como el CMV y EBV. El estudio inmunológico comprende antecedentes de eventos sensibilizantes, tipificación de grupo sanguíneo y HLA, estudio de anticuerposy pruebas cruzadas (XM), que permita predecir los riesgos de rechazo y planificar estrategias de inmunosupresión individualizadas, de acuerdo a cada situación particular. Se describen los nuevos métodos de estudio, en fase sólida, de la respuesta aloinmune.
Kidney transplantation is the therapy of choice for management of chronic renal disease (ESRD) in children. The appraisal should be careful to minimize the transplant risks and conditions that affect patient and graft survival. The study includes an adequate selection of the donor, and a thorough patient evaluation, which must consider the etiology of ESRD, infections and immunizations presented by the patient throughout their lives, and the serologic status for certain relevant infection, as CMV and EBV. The immunological assesment includes accurate donor typing, history of sensitizing events, blood group and HLA typing and HLA antibody study and crossmatch (XM), to predict the risk of rejection and plan individualized strategies of immunosuppression, according to each particular situation. Novel methods of measuring T-cell alloinmune potential are briefly discussed.
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Humanos , Niño , Selección de Paciente , Pediatría , Receptores de Trasplantes , Trasplante de Riñón/métodosRESUMEN
Antecedentes. El hecho de que tanto Hollister-Stier como Allergopharma haya cesado la producción de penicilil-polilisina (PPL) y la mezcla de determinantes menores (MDM) en 2004, es un obstáculo importante en el diagnóstico de la hipersensibilidad a los ß-lactámicos y puede producir consecuencias negativas. Objetivo. Evaluar la contribución de las pruebas cutáneas con bencilpenicilina para el diagnóstico de la hipersensibilidad a penicilina mediada por IgE, con el fin de determinar cuánto podría compensar esta prueba cutánea la falta de disponibilidad de PPL y MDM. Métodos. Se seleccionaron pacientes con antecedentes de reacciones inmediatas a penicilina y test cutáneo para uno o más reactivos de penicilina (PPL, MDM o bencilpenicilina), una o más penicilinas semisintéticas (ampicilina, amoxicilina o piperacilina) o ambos. Resultados. Se seleccionaron en total 300 pacientes, 105 en el centro de Francia y 195 en los centros italianos. Las principales drogas responsables fueron la amoxicilina y ampicilina. La manifestación clínica más común fue la anafilaxia. Las pruebas cutáneas más frecuentemente positivas fueron con amoxicilina (188; 62,7%), ampicilina (151; 50,3%) y bencilpenicilina (111; 37,0%). Entre los 300 sujetos, 113 (37,7%) fueron positivos sólo para las penicilinas semisintéticas, 109 (36,3%) a ambas penicilinas semi-sintéticas y el clásico reactivo penicilina y 78 (26,0%) sólo a este último. En el último grupo, 64 (21,3% de los 300 sujetos) fueron positivos sólo a PPL y/o MDM y 14 (4,7%) a bencilpenicilina, de los cuales 8 (2,7%) fueron positivos sólo a este último Conclusiones. Las pruebas cutáneas con bencilpenicilina pueden compensar en parte la falta de PPL y de MDM. Por otra parte, puede aumentar ligeramente la sensibilidad del estudio diagnóstico alergológico y, por lo tanto, reducir el número de desafíos potencialmente peligrosos(AU)
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Humanos , Penicilina G , Titulación a Punto Final de Prueba Cutánea , Penicilinas/efectos adversosRESUMEN
Sr2CoUO6 double perovskite has been prepared as a polycrystalline powder by solid-state reaction, in air. This material has been studied by X-ray, neutron powder diffraction (NPD) and magnetic measurements. At room temperature, the crystal structure is monoclinic, space group P2(1)/n, Z= 2, with a= 5.7916(2), b= 5.8034(2), c= 8.1790(3) A, beta= 90.1455(6)degrees. The perovskite lattice consists of a completely ordered array of CoO6 and UO6 octahedra, which exhibit an average tilting angle phi= 11.4 degrees. Magnetic and neutron diffraction measurements indicate an antiferromagnetic ordering below TN = 10 K. The low-temperature magnetic structure was determined by NPD, selected among the possible magnetic solutions compatible with the P2(1)/n space group, according with the group theory representation. The propagation vector is k= 0. A canted antiferromagnetic structure is observed below TN = 10 K, which remains stable down to 3 K, with an ordered magnetic moment of 2.44(7)mu(B) for Co2+ cations. The magnetic moment calculated from the Curie-Weiss law at high temperatures (5.22 mu(B)/f.u.) indicates that the orbital contribution is unquenched at high temperatures, which is consistent with high-spin Co2+((4)T(1g) ground state) in a quasi-regular octahedral environment. Magnetic and structural features are consistent with an electronic configuration Co2+[3d(7)]-U6+[Rn].
RESUMEN
OBJECTIVES: Up to now, the epidemiological characteristic of celiac disease among adults in South America remains unknown. The present prospective screening was designed to determine the prevalence of celiac disease in adults from the general population in an urban area of Argentina. METHODS: Between January. 1998, and May, 2000, all couples attending a centralized laboratory for an obligatory prenuptial examination in the La Plata area were offered participation in a screening program for celiac disease. The study included 2000 subjects (996 women; median age 29 yr, range 16-79 yr). All individuals completed a clinical questionnaire at the time that serum samples were obtained. A three-step screening protocol was used, as follows: 1) all samples were tested for antigliadin antibodies (AGAs) (type IgA and IgG); 2) samples that were IgA AGA positive were tested for antiendomysial antibody (EmA type IgA); samples that were positive for AGA-G but negative for IgA AGAs were tested for total IgA serum levels and EmA type IgG; and 3) subjects who were EmA-positive were referred for intestinal biopsy. RESULTS: At the end of the screening we detected 10 subjects who were EmA-A positive and two others who were IgA-deficient (both were EmA-G positive). Up to now, 11 of the 12 subjects (including nine EmA-positive and two IgA-deficient subjects) had endoscopic intestinal biopsies showing the characteristic celiac histology. The remaining EmA-positive individual was considered to be affected by celiac disease. The overall prevalence assessed was 1:167 (6.0 x 1000 subjects; 95% CI = 3.1-10.5). Eight of the 12 (67%) subjects were female (1:124; 8.0 x 1000; 95% CI = 3.5-15.8) and four (33%) were male (1:251; 4.0 x 1000; 95% Cl = 1.1-10.2). Although eight new patients were considered to be asymptomatic, three presented with a subclinical course and one was classically symptomatic. Only one patient had been previously diagnosed with celiac disease. CONCLUSIONS: Our screening protocol showed a very high prevalence of celiac disease for an urban area of Argentina that is ethnically similar to 90% of the general population of the country. The prevalence among women was double that for men, and the heterogeneous clinical picture of new patients showed predominance of asymptomatic cases.
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Enfermedad Celíaca/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Argentina/epidemiología , Niño , Femenino , Humanos , Masculino , Tamizaje Masivo , Persona de Mediana Edad , Prevalencia , Estudios Prospectivos , Población UrbanaRESUMEN
We present a case of Idiopathic Portal Hypertension (IPH) with Splenic infarct in a 23-year-old female. She was referred to the hospital because of enlargement of liver and spleen. A computed axial tomography revealed Splenic infarct. The spleen was surgically removed. At laparotomy the liver was found to be enlarged and a liver biopsy performed. The biopsy showed characteristic changes of IPH. After the splenic resection all hematologic manifestations disappeared, suggesting that they were due to hypersplenism. The IPH is very uncommon in western countries. We don't know of any case previously reported in Argentina and our patient is the first case of IPH with Splenic infarct.
Asunto(s)
Hipertensión Portal/complicaciones , Infarto del Bazo/etiología , Adulto , Biopsia , Femenino , Humanos , Hipertensión Portal/patología , Infarto del Bazo/patología , Esplenomegalia/complicaciones , Tomografía Computarizada por Rayos XRESUMEN
La Hipertensión Portal Idiopática (HPI) es un síndrome clínico-patológico caracterizado por hipertensión portal no cirrótica. Su prevalencia es baja en occidente y no hemos encontrado casos comunicados en nuestro país. La patente histológica característica de HPI es fibrosis y obliteración de las venas porta intrajepáticas (flebosclerosis), fibrosis portal y periportal, y formación de vasos aberrantes. Presentamos un caso que nos fue derivado por hepatoesplenomegalia y pancitopenia. Al tercer día de internación presentó dolor abdominal y mediante una TAC abdominal se le diagnosticó un infarto esplénico . Posteriormente se le realizó una esplenectomía y biopsia hepática. Los parámetros hematológicos mejoraron después de la operación. Los estudios de imágenes y endoscópicos confirmaron la presencia de hipertensión portal: circulación colateral, vena porta permeable y dilatada y várices esofágicas. Los cambios histológicos del hígado concordaron con el diagnóstico de HPI. Los signos y síntomas característicos de HPI son hemorragias digestivas relacionadas con la hipertensión portal y pancitopenia secundaria al hiperesplenismo y su principal causa de muerte es la hemorragia por várices esofágicas. Como complicación infrecuente de la HPI se ha descripto la trombosis de la vena Porta. En cambio el infarto esplénico, es una rara complicación de la hipertensión portal por cirrosis y del transplante hepático, pero no se han publicado casos en pacientes con HPI. (AU)
Asunto(s)
Humanos , Femenino , Adulto , Hipertensión Portal/etiología , Infarto del Bazo/complicaciones , Hipertensión Portal/patología , Infarto del Bazo/patología , Biopsia , Tomografía Computarizada por Rayos X , Esplenomegalia/complicacionesRESUMEN
La Hipertensión Portal Idiopática (HPI) es un síndrome clínico-patológico caracterizado por hipertensión portal no cirrótica. Su prevalencia es baja en occidente y no hemos encontrado casos comunicados en nuestro país. La patente histológica característica de HPI es fibrosis y obliteración de las venas porta intrajepáticas (flebosclerosis), fibrosis portal y periportal, y formación de vasos aberrantes. Presentamos un caso que nos fue derivado por hepatoesplenomegalia y pancitopenia. Al tercer día de internación presentó dolor abdominal y mediante una TAC abdominal se le diagnosticó un infarto esplénico . Posteriormente se le realizó una esplenectomía y biopsia hepática. Los parámetros hematológicos mejoraron después de la operación. Los estudios de imágenes y endoscópicos confirmaron la presencia de hipertensión portal: circulación colateral, vena porta permeable y dilatada y várices esofágicas. Los cambios histológicos del hígado concordaron con el diagnóstico de HPI. Los signos y síntomas característicos de HPI son hemorragias digestivas relacionadas con la hipertensión portal y pancitopenia secundaria al hiperesplenismo y su principal causa de muerte es la hemorragia por várices esofágicas. Como complicación infrecuente de la HPI se ha descripto la trombosis de la vena Porta. En cambio el infarto esplénico, es una rara complicación de la hipertensión portal por cirrosis y del transplante hepático, pero no se han publicado casos en pacientes con HPI.
Asunto(s)
Humanos , Femenino , Adulto , Hipertensión Portal/etiología , Infarto del Bazo/complicaciones , Biopsia , Hipertensión Portal/patología , Infarto del Bazo/patología , Esplenomegalia/complicaciones , Tomografía Computarizada por Rayos XRESUMEN
We present a case of Idiopathic Portal Hypertension (IPH) with Splenic infarct in a 23-year-old female. She was referred to the hospital because of enlargement of liver and spleen. A computed axial tomography revealed Splenic infarct. The spleen was surgically removed. At laparotomy the liver was found to be enlarged and a liver biopsy performed. The biopsy showed characteristic changes of IPH. After the splenic resection all hematologic manifestations disappeared, suggesting that they were due to hypersplenism. The IPH is very uncommon in western countries. We dont know of any case previously reported in Argentina and our patient is the first case of IPH with Splenic infarct.
RESUMEN
OBJECTIVE: Tissue transglutaminase was identified as the autoantigen eliciting endomysial antibody. A homemade enzyme-linked immunosorbent assay (ELISA)-based test was recently developed to determine quantitative titers of IgA antitissue transglutaminase antibody. Our objective in this study was to assess the suitability of a newly developed commercial kit for quantitative determination of antibody in patients with untreated celiac disease. MATERIALS: We tested serum samples from 79 untreated celiac patients, 42 healthy blood donors, and 18 patients with nonceliac intestinal disorders evaluated in two different centers. Samples were tested for antitissue transglutaminase, and antiendomysial and antigliadin antibodies in the center where diagnosis was performed. To assess interlaboratory variability of methods, 24 samples randomly selected were blindly tested in both centers. Antitissue transglutaminase antibodies were determined using a commercial kit (INOVA Diagnostics, Inc., San Diego, CA). RESULTS: Untreated celiac patients had significantly higher titers of antitissue transglutaminase than healthy and disease controls (p < 0.00001). According to the cut-off provided by the manufacturers (20 AU/mL), overall sensitivity was 92% (85% for one center and 100% for the other) and specificity was 98% (100% and 95%, respectively). Antiendomysial antibody was 86% sensitive and 100% specific. Discordance between antitissue transglutaminase and antiendomysial antibodies was detected in 13% of patients. Although two antitissue transglutaminase-negative cases had a positive antiendomysial antibody, the inverse situation was found in eight cases. A blind determination of antitissue transglutaminase on the same samples evidenced a good agreement (kappa statistic: 0.66) between both centers when assessment was qualitative (based on the decision of positive or negative). Although correlation of titers for both determinations was highly significant (r: 0.902, p < 0.00001), a very wide interlaboratory variability (median: 50%) was detected when absolute values were considered. CONCLUSIONS: The quantitative determination of antitissue transglutaminase using a commercial kit was highly sensitive and specific for detection of celiac disease. We observed an incomplete overlapping with antiendomysial antibody. The very high variability of values between laboratories still remains to be solved so as to propose the commercial ELISA assay for the screening of celiac disease.
Asunto(s)
Autoanticuerpos/análisis , Enfermedad Celíaca/enzimología , Ensayo de Inmunoadsorción Enzimática , Proteínas de Unión al GTP/inmunología , Transglutaminasas/inmunología , Adolescente , Adulto , Anciano , Anticuerpos Antiidiotipos/análisis , Biomarcadores/sangre , Biopsia , Enfermedad Celíaca/sangre , Enfermedad Celíaca/patología , Femenino , Proteínas de Unión al GTP/sangre , Gliadina/sangre , Gliadina/inmunología , Humanos , Inmunoglobulina A/inmunología , Inmunoglobulina G/inmunología , Masculino , Persona de Mediana Edad , Proteína Glutamina Gamma Glutamiltransferasa 2RESUMEN
To assess epidemiological and clinical significance of drug hepatotoxicity in the setting of liver diseases consultation, ten thousand and three hundred forty two prospectively designed clinical records from patient cared for in our Liver Unit in the period 1988-1998 were incorporated into the study; 58 out of 10,342 (prevalence = 5.6%) fulfilled at least the first three of the following causality requirements: 1.--Liver injury associated in time to drug exposition; 2.--Negative evaluation of more common other etiologies; (alcohol, viruses, immunologic, metabolic, etc) 3.--Favourable response to drug withdrawal (ALT < 50% of baseline in 8 to 30 days in acute hepatitis type, and alkaline phosphatase and/or total bilirubin < 50% of baseline up to 6 months, in acute cholestasis) 4.--Inadverted or rarely prescribed positive challenge. Acute hepatitis type of injury were considered when serum ALT rise 8 times or more above normal superior level with alkaline phosphatase (APh) below 3 times; "pure" cholestasis when APh rise 3 times or more above normal with ALT below 8 times; mixed acute injury or cholestatic hepatitis when both ALT and APh were elevated above 8 and 3 times respectively, and indeterminate type when both enzymes were below the referred levels. Chronic injury were considered when six or more month of evolution and compatible liver histology happens. Clinical severity were expressed as mild (absence of major clinical complications, serum bilirubin < 5 mg/dl and prothrombin concentration > 75%), moderate (presence of clinical complications, bilirubin > 5 mg/dl and prothrombin concentration between 50-75%), and severe (major clinical complications with bilirubin > 5 mg/dl and prothrombin concentration < 50%). Female/male ratio was 1.4:1, with age average 39 years (R = 15-77) and major concentration of cases above 40. More than 50% of cases received 2 or more drugs. Jaundice was present in 60.4%, and systemic manifestations of hypersensibility (fever, adenomegalies, rush, mononucleosis like syndrome, eosinophilia) in 29.3%. Acute injury represented 91.4% of the cases: 41.4% acute hepatitis, 15.5% "pure" cholestasis, 24.1% cholestatic hepatitis, and 10.3% indeterminate type. Four patients (4.5% of acute injury cases) were presented as severe acute liver failure, leading to liver transplant in one of them, drug association (INH-rifampicin and carbamazepine-phenobarbital) and inadverted challenge (sulphonamides and pemoline) were associated to clinical severity. Chronic injury were found in five patient (8.6%), four of them associated to chronic hepatitis and the other one to a ductopenic syndrome. Six drugs represented 53.4% of our cases; oral contraceptives (7 cases), INH alone or combined with rifampicin (6 cases), sulfonamides and clorpropamida (5 cases each), carbamazepine and amiodarone (4 cases each). Normalization of liver enzymes after drug suppression took 2 to 8 weeks in acute hepatitis type (X = 4 weeks), 4 to 20 in "pure" cholestasis (X = 12 weeks) and 8 to 24 weeks in cholestatic hepatitis or mixed type (X = 16 weeks). Two cases of chronic hepatitis normalize the histological activity index in 20 and 18 month respectively, one case remains as chronic hepatitis at 10 month and the other one progress to cirrhosis; the ductopenic syndrome normalize histology in 19 months receiving urso-deoxicolic acid, 10 mg/k/day.
Asunto(s)
Enfermedad Hepática Inducida por Sustancias y Drogas , Hepatopatías/epidemiología , Enfermedad Aguda , Adolescente , Adulto , Anciano , Enfermedad Hepática Inducida por Sustancias y Drogas/epidemiología , Colestasis/inducido químicamente , Colestasis/epidemiología , Enfermedad Crónica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Estudios ProspectivosRESUMEN
The aim of this study was to analyze the population pharmacokinetics of oxcarbazepine (OCBZ) measuring the serum level of its active metabolite, monohydroxylated oxcarbazepine (MHD). We studied a group of patients with symptomatic and cryptogenic epilepsy treated with OCBZ monotherapy orally, at least for 3 weeks. The mean doses, age and weight of the patients were 17.9 +/- 7.8 mg/kg/day, 35.6 +/- 16.4 years and 70.3 +/- 19.2 kg, respectively. Blood samples were taken before the first morning dose of OCBZ and MHD levels were determined by HPLC. A linear relationship was found between OCBZ dose and MHD serum level (r = 0.844, p < 0.001). The MHD serum concentration (mg/l) can be predicted as 0.85 x OCBZ dose (mg/kg). There was a significant correlation between observed and predicted MHD concentrations for each patient. The mean MHD clearance (Cl/F) calculated was 4.05 +/- 1.69 l/h, with a coefficient variation of 41%. It was independent of dose, age and weight and followed a non normal distribution. The half-life of MHD was 10.50 +/- 3.17 hours. The influence of other antiepileptic drugs on MHD pharmacokinetics was analyzed by comparing the Cl/F medians from groups of patients receiving concomitant drugs with OCBZ monotherapy group where no significant differences were found. The results can be used to estimate a priori OCBZ doses, in order to individualize the treatment.