RESUMEN
Familial Hemophagocytic Lymphohistiocytosis type 3 (FHL3) is a genetic disorder caused by mutations in UNC13D gene, coding the granule priming factor Munc13-4 that intervenes in NK and T cell cytotoxic function. Here we report the case of a 17-month-old girl with prolonged symptomatic EBV infectious mononucleosis and clinical symptoms of hemophagocytic syndrome. In vitro functional analysis pointed to a degranulation defect. The genetic analysis of UNC13D gene identified initially a heterozygous mutation (c.753+1G>T) in the donor splice-site that resulted in exon 9 skipping (maternal allele). Mutations in other genes were considered, but additional analysis of UNC13D cDNA revealed in the paternal allele a heterozygous transition from G to A (c.2448-13G>A) at the 3' acceptor splice-site in intron 25, generating a new acceptor splice-site that leads to a frameshift and a premature STOP codon. Allele specific amplification of the cDNA confirmed the absence of a functional mRNA from the paternal allele. This case illustrates an atypical compound heterozygous UNC13D mutation affecting the RNA splicing that generates a typical FHL3 phenotype.
Asunto(s)
Infecciones por Virus de Epstein-Barr/complicaciones , Linfohistiocitosis Hemofagocítica/genética , Proteínas de la Membrana/genética , Mutación , Secuencia de Bases , Codón sin Sentido , Análisis Mutacional de ADN , Femenino , Mutación del Sistema de Lectura , Heterocigoto , Humanos , Lactante , Linfohistiocitosis Hemofagocítica/etiología , Proteínas de la Membrana/química , Modelos Moleculares , Mutación Puntual , Estructura Terciaria de Proteína , Sitios de Empalme de ARN/genéticaRESUMEN
Ten global harbours were assessed for sediment quality by quantifying the magnitude of anthropogenic change and ecological risk. Anthropogenic change (enrichment) was high for Derwent River and Sydney estuary, moderate for Santander Harbour, Rio de Janeiro and Dublin Port, slight for Hong Kong, minimal for Darwin. All 10 enrichment indices used showed similar results. Derwent River sediment was rated at high ecological risk, followed by Sydney and Santander estuaries with moderate risk. Auckland and Darwin sediments exhibited minimal ecological risk and sediment in the remaining harbours (Dublin, Hong Kong, Ravenna, Ria de Vigo and Rio de Janeiro) were assessed at slight ecological risk. The extraordinary variety of environments and types/quantities/qualities of data investigated resulted in as much a critique and development of methodology, as an assessment of human impact, including unique techniques for elemental normalisation and contaminant classification. Recommendations for an improved technical framework for sediment quality assessment are provided.
Asunto(s)
Metales Pesados/análisis , Contaminantes Químicos del Agua/análisis , Monitoreo del Ambiente , Estuarios , Sedimentos Geológicos , Hong Kong , Humanos , Medición de Riesgo , RíosRESUMEN
Individual parent polycyclic aromatic hydrocarbons (PAHs) were identified and quantified in samples of recent sediments at 32 stations in the Ria de Vigo (NW Spain) and its adjacent shelf by high-performance liquid chromatography and a fluorescence detector. This area suffers the pressure of nearly 500,000 inhabitants and includes a number of important marine organisms. The total concentration for the sum of the 13 PAHs quantified were in the range 28-3203 ng/g. The highest concentrations were found near the city of Vigo, where marinas and dockyards as well as highways with a high traffic flow are established. Low PAH concentrations were determined in the outermost part of the estuary, far from the anthropogenic influence. PAH isomers concentration ratios were assessed, indicating that the main source of these compounds in the whole area is pyrolysis. When compared with the EACs, threshold effect level, and probable effect level values, only the samples from the inner part of the ría can occasionally present adverse biological effects due to the PAH concentrations.
Asunto(s)
Contaminantes Ambientales/análisis , Sedimentos Geológicos/química , Hidrocarburos Policíclicos Aromáticos/análisis , Ríos/química , Monitoreo del Ambiente , Geografía , Océanos y Mares , EspañaRESUMEN
The spatial and temporal distribution of selected endocrine disrupting compounds (4-tert-octylphenol, 4-n-octylphenol, 4-n-nonylphenol, nonylphenol, and bisphenol A) in two coastal areas of the Iberian Peninsula (Ria de Vigo and Mar Menor lagoon) were evaluated for the first time. Seawater and sediment samples collected during spring and autumn of 2015 were analysed using greener extraction techniques and liquid chromatography-tandem mass spectrometry. The presence of branched isomers (4-tert-octylphenol and nonylphenol) and bisphenol A in almost all seawater and sediment samples demonstrated their importance as pollutants in the frame of water policy, while no concentrations of linear isomers (4-n-octylphenol and 4-n-nonylphenol) were found. Higher seawater levels were observed in Mar Menor lagoon, especially in spring, associated with wastewater treatment plant effluents and nautical, agricultural and industrial activities. Similar sediment concentrations were measured in both studied areas, being nonylphenol levels five times higher than those measured for the other EDCs. Experimental sediment-water partition coefficients showed a moderate sorption of target compounds to sediments. Risk quotients for water compartment evidenced a moderate risk posed by nonylphenol, considering the worst-case scenario. For sediments, moderate risk related to 4-tert-octylphenol and high risk to nonylphenol were estimated.
Asunto(s)
Disruptores Endocrinos/análisis , Sedimentos Geológicos/química , Agua de Mar/química , Contaminantes Químicos del Agua/análisis , Monitoreo del Ambiente , Medición de Riesgo , Estaciones del Año , Aguas Residuales/químicaRESUMEN
The objective of this review is to summarize information on microfibers in seawater and sediments from available scientific information. Microfibers were found in all reviewed documents. An heterogeneous approach is observed, with regard to sampling methodologies and units. Microfibers in sediments range from 1.4 to 40 items per 50mL or 13.15 to 39.48 items per 250g dry weight. In the case of water, microfibers values ranges from 0 to 450items·m-3 or from 503 to 459,681items·km-2. Blue is the most common color in seawater and sediments, followed by transparent and black in the case of seawater, and black and colorful in sediments. Related with polymer type, polypropylene is the most common in water and sediments, followed by polyethylene in water and polyester in water and sediments. Some polymers were described only in water samples: high-density polyethylene, low-density polyethylene and cellophane, whilst only rayon was reported in sediments.
Asunto(s)
Sedimentos Geológicos/análisis , Plásticos/análisis , Agua de Mar/análisis , Contaminantes Químicos del Agua/análisis , Monitoreo del Ambiente/métodos , Polietileno/análisisRESUMEN
Polycyclic aromatic hydrocarbons (PAHs) were determined in tissues of wild mussels (Mytilus galloprovincialis) from the Galicia coast (NW Spain) in order to assess the extent of the environmental impact caused by the Prestige oil spill (November 13, 2002). Three sampling campaigns were carried out in February, June and November 2003 at 24 stations along the Galicia coast, from La Guardia (Pontevedra) to Ribadeo (Lugo). The spatial distribution of PAHs found in the first sampling period, clearly revealed the central area (Costa da Morte) as the most affected by the oil spill. In these stations, concentrations up to 7780 microg/kg dw of the sum of 13 parent PAHs were found 2-3 months after the spill. Molecular parameters within the aliphatic and aromatic fractions confirmed the presence of the Prestige oil in these samples. The levels markedly decreased at most of the stations in the second sampling and recovered to levels found before the spill in November 2003, 1 year after the accident (29-279 microg/kg dw, av. 133+/-83 microg/kg dw). However, a certain increase was observed in some sites which could be related to the remobilization of oil residues from still unclean intertidal spots or sediments due to the winter marine weather conditions.
Asunto(s)
Bivalvos/metabolismo , Monitoreo del Ambiente , Contaminación Ambiental/análisis , Petróleo/análisis , Contaminantes Químicos del Agua/análisis , Animales , España , Contaminantes Químicos del Agua/farmacocinéticaRESUMEN
The distribution of aliphatic and aromatic hydrocarbons was determined in surface sediments collected at 36 stations along the Galicia continental shelf (NW Spain), following the Prestige oil spill. Sampling was performed in December 2002, just after the accident, and in February and September 2003. Concentrations of PAHs (summation operator 13 parent components) were in the range of 0.9-422 microg/kgdw, the highest values being close to coastal urban areas (e.g. Pontevedra and A Coruña), whereas in the stations of the area most heavily impacted by the spill (off Costa da Morte) concentrations were in the range of 14.8-89.6 microg/kgdw, with a certain predominance of alkylated compounds, which may suggest a mixture of petrogenic and pyrolytic sources. The detailed study of petrogenic molecular markers (e.g. steranes and triterpanes) showed the occurrence of an old (weathered) petrogenic chronic pollution in the shelf sediments but not of the Prestige oil, with the possible exception of few stations in the area of Costa da Morte. This was attributed to the heavy nature of the spilled oil that was barely dispersed in the water column and mainly stranded on the coast or sedimented in the form of oil patches. The addition of increasing amounts of fuel oil to a representative sediment sample showed that the molecular indices were indicative of the presence of the Prestige oil when the amount was above 1g/kg of sediment. The toxicity of selected samples (showing the higher PAH concentrations) was tested using the bivalve embryogenesis bioassay. Embryogenesis success reached high values in all cases (80-88%, with 86% in the control), indicating a lack of toxicity in the sediments and supporting the conclusion that the patchiness of the fuel eventually reaching the seafloor reduced its impact on the benthic communities of the Galician shelf.
Asunto(s)
Desastres , Aceites Combustibles , Sedimentos Geológicos/química , Hidrocarburos Aromáticos/química , Contaminantes Químicos del Agua/análisis , Animales , Océano Atlántico , Bivalvos/efectos de los fármacos , Demografía , Humanos , Hidrocarburos Aromáticos/toxicidad , Navíos , España , Contaminantes Químicos del Agua/toxicidadRESUMEN
Seawater samples collected at three depths from 68 stations along the Northern Spanish coast were analysed for dissolved/dispersed petroleum aromatic hydrocarbons by UV-fluorescence and for 25 individual compounds by GC-MS. Sampling was performed in December 2002, just after the Prestige oil spill, and in February-March and September 2003. Higher concentrations of total aromatic hydrocarbons were found at all depths in the samples collected during December 2002 off the Galicia coast, with levels ranging between 0.19 and 28.8 microg/L eq. oil (0.1-4.8 microg/L chrysene eq.). These values decreased in the following cruises, till <0.05-2.86 microg/L oil eq. (av. 0.23 microg/L chrysene eq.) in September 2003, possibly representing the background levels for the region. However, in the Cantabrian coast they were still high at the surface in the March cruise, probably by the late arrival of the fuel-oil to this area. Some coastal hot spots were also identified, with values up to 29.2 microg/L fuel-oil eq., close to river mouths and urban areas. The individual PAH distributions in the December 2002 sampling off-Galicia were dominated by alkyl-naphthalene derivatives, consistently with the pattern distribution shown by the fuel-oil water accommodated fraction. The higher concentrations were found in the subsurface samples along the Costa da Morte, the area most heavily affected by the spill (av. 0.46 microg/L Sigma16 PAHs). The rest of the samples collected in other areas exhibited lower concentrations and a more even distribution of 2-4 ring PAHs, that ranged from 0.09 to 0.37 microg/L (av. 0.15 microg/L Sigma16 PAHs), with decreasing trends offshore and downward the water column. In September 2003, the values were rather uniform, averaging 0.09 microg/L (Sigma16 PAHs).
Asunto(s)
Desastres , Aceites Combustibles , Hidrocarburos Aromáticos/química , Agua de Mar/química , Contaminación Química del Agua/análisis , Océano Atlántico , Demografía , Humanos , Navíos , EspañaRESUMEN
Wild mussels (Mytilus galloprovincialis) were selected as bioindicators of chemical pollution to evaluate the occurrence and spatial distribution of five endocrine disrupting compounds in the Spanish Atlantic coast and Bay of Biscay. A total of 24 samples were collected in May, 2011 and analysed by selective pressurized liquid extraction followed by liquid chromatography tandem mass spectrometry determination. Branched alkylphenols (4-tert-octylphenol and nonylphenol) were determined in more than 90% of the analysed samples whereas the presence of linear alkylphenols (4-n-octylphenol and 4-n-nonylphenol) was scarcely detected (<12% of the samples). Wastewater treatment plants discharges and nautical, fishing and shipping activities were considered the primary sources of contamination by alkylphenols. Bisphenol A was found in 16% of the analysed samples associated to punctual industrial discharges. A total endocrine disrupting compound (alkylphenols and bisphenol A) average concentration of 604ngg(-1) dw was calculated and nonylphenol was the main contributor in almost all sampling points.
Asunto(s)
Bahías/química , Compuestos de Bencidrilo/análisis , Disruptores Endocrinos/análisis , Monitoreo del Ambiente/métodos , Mytilus/efectos de los fármacos , Fenoles/análisis , Contaminantes Químicos del Agua/análisis , Animales , Mytilus/química , España , Aguas Residuales/análisisRESUMEN
Three groups of chamois (Rupicapra pyrenaica) and three groups of Spanish ibex (Capra pyrenaica) were established to study the effects of sarcoptic mange on serum proteins and immunoglobulin G (IgG) levels. The first group of chamois consisted of 22 healthy Pyrenean chamois (R. pyrenaica pyrenaica) from a non-infested area, the second group consisted of 20 healthy Cantabrian chamois (R. p. parva) from an area where sarcoptic mange has been reported since 1994 and the third group consisted of 16 Cantabrian chamois from the same area but naturally infested by Sarcoptes scabiei. The first group of Spanish ibex was 39 healthy animals from a sarcoptic mange non-infested area, the second group was 23 healthy animals from a sarcoptic mange infested area and the third group consisted of 20 animals from the same area but naturally infested with the parasite. Blood samples were taken after killing the animals as part of hunting programmes. Values for total proteins, gamma-globulin and IgG were higher in infested and healthy chamois from the infested area compared to healthy chamois from the non-infested area, and IgG levels were higher in infested chamois compared to healthy-exposed chamois. Values for alpha2-globulin were higher in healthy Cantabrian chamois. In Spanish ibex, albumin, alpha2-globulin and IgG levels were lower in the healthy Spanish ibex from the non-infested area than in healthy animals from an infested area. The differences found in the chamois were indicative of the establishment of a humoral antibody response in the animals in contact with the disease. As the IgG levels were not significantly different between healthy and infested Spanish ibex from the same area, a different pattern of chronic infection with humoral response to the disease was suggested.
Asunto(s)
Proteínas Sanguíneas/análisis , Enfermedades de las Cabras/parasitología , Inmunoglobulina G/sangre , Sarcoptes scabiei/inmunología , Escabiosis/veterinaria , Animales , Animales Salvajes , Electroforesis en Acetato de Celulosa/veterinaria , Enfermedades de las Cabras/sangre , Enfermedades de las Cabras/epidemiología , Enfermedades de las Cabras/inmunología , Cabras , Inmunodifusión/veterinaria , Inmunoelectroforesis/veterinaria , Prevalencia , Escabiosis/sangre , Escabiosis/epidemiología , Escabiosis/inmunología , Albúmina Sérica/análisis , Seroglobulinas/análisis , España/epidemiología , Estadísticas no ParamétricasAsunto(s)
Antituberculosos/uso terapéutico , Tuberculosis Bucal/diagnóstico , Tuberculosis Bucal/tratamiento farmacológico , Anciano , Enfermedad de Crohn/diagnóstico , Diagnóstico Diferencial , Femenino , Humanos , Boca/microbiología , Boca/patología , Mycobacterium tuberculosis/patogenicidad , Úlceras Bucales/diagnóstico , Pénfigo/diagnóstico , Tuberculosis Bucal/patologíaRESUMEN
Two cases of haemonchosis occurred in the Spanish ibex (Capra pyrenaica) population of the National Hunting Reserve of Tortosa and Beseit, northeastern Spain, in July 1992 and May 1993. The animals were cachectic and recumbent and had an acute hemorrhagic, macrocytic and hypochromic anemia; which was related to a high infection of 2,016 and 1,863 Haemonchus contortus, respectively, in the abomasum of the animals.
Asunto(s)
Enfermedades de las Cabras/epidemiología , Hemoncosis/veterinaria , Abomaso/parasitología , Animales , Animales Salvajes , Brotes de Enfermedades/veterinaria , Femenino , Enfermedades de las Cabras/sangre , Cabras , Hemoncosis/sangre , Hemoncosis/epidemiología , Haemonchus/crecimiento & desarrollo , Haemonchus/aislamiento & purificación , Masculino , España/epidemiologíaRESUMEN
Serum protein and immunoglobulin G (IgG) levels were measured from 16 healthy mouflons (Ovis orientalis musimon) and from 28 roe deer (Capreolus capreolus) in French and Catalonian populations. Electrophoretic patterns were described for each species. The only significant gender-related difference was increased beta-globulins in French roe deer males. Significantly increased alpha1-globulin levels and decreased IgG levels occurred in the young Catalonian roe deer compared with adults from the same group. Values for total proteins, beta-globulins, gamma-globulin, and IgG were significantly higher in the French roe deer, while albumin and albumin/globulin ratio were higher in the Catalonian roe deer. Both populations had the same relative migration distances of the various protein fractions of the electrophoresis.
Asunto(s)
Proteínas Sanguíneas/análisis , Ciervos/inmunología , Inmunoglobulina G/sangre , Ovinos/inmunología , Factores de Edad , Animales , Animales Salvajes , Ciervos/sangre , Electroforesis en Acetato de Celulosa/veterinaria , Femenino , Francia , Masculino , Valores de Referencia , Factores Sexuales , Ovinos/sangre , EspañaRESUMEN
Twelve free-ranging mouflon (Ovis ammon), eight adults and four lambs, were captured in northeast Spain. The animals were transported for 9 hr from the capture site to the Wildlife Rescue Center at Vallcalent (Lleida), 300 km SW. Blood samples were taken at capture and after transport to study the effects on hematologic and biochemical parameters. The RBC, PCV, Hb, and alkaline phosphatase values were significantly higher in lambs than in adults, and total protein levels were significantly lower in lambs. Comparisons of blood parameters of adult animals at capture and after transport revealed significantly lower RBC, PCV, Hb, PLT, lymphocyte counts, glucose, cholesterol, creatinine, and alkaline phosphatase values and significantly higher neutrophil count, AST, ALT, CK, LDH, and total bilirubin levels after transport. The differences observed in the blood parameters of lambs before and after transport were not statistically significant.
Asunto(s)
Animales Salvajes/sangre , Manejo Psicológico , Ovinos/sangre , Transportes , Factores de Edad , Animales , Análisis Químico de la Sangre/veterinaria , Femenino , Pruebas Hematológicas/veterinaria , Masculino , EspañaRESUMEN
In an effort to define the effect(s) of lithium heparin and tripotassium EDTA on various hematologic parameters in Testudo hermanni, we collected blood samples from 29 clinically healthy adult individuals of both sexes. Portions of each blood sample were transferred to tubes containing either lithium heparin or tripotassium EDTA. The following determinations were made on samples of blood from each anticoagulant: red and white cell counts, packed cell volume, hemoglobin concentration, red cell indices, and differential white cell counts. Due to hemolysis, hematocrits could not be determined from blood samples in EDTA. Further, red blood cell counts were lower in the EDTA samples than in the heparin samples, again due to hemolysis associated with EDTA. However, EDTA did not appear to interfere with hemoglobin determinations. Heparin blood samples provided more optimal blood smears than did EDTA samples, thus differential leucocyte counts were determined only from smears taken from heparin blood samples. Further, thrombocyte and leucocyte aggregation was not observed with heparin use. Thus, heparin is considered the anticoagulant of choice in chelonians for determining red blood cell counts, erythrocyte indices, and hematocrits. When May-Grunwald-Giemsa stain was compared with Diff-Quick, thrombocytes could be more easily differentiated from lymphocytes using the May-Brunwald-Giemsa stain. Heterophil granules seemed to coalese more when Diff-Quick was used. Eosinophils, basophils, and monocytes were similar in appearance with both staining methods.
Asunto(s)
Anticoagulantes/farmacología , Ácido Edético/farmacología , Heparina/farmacología , Tortugas/sangre , Animales , Plaquetas/efectos de los fármacos , Eosinófilos/efectos de los fármacos , Índices de Eritrocitos/efectos de los fármacos , Índices de Eritrocitos/veterinaria , Eritrocitos/efectos de los fármacos , Femenino , Granulocitos/efectos de los fármacos , Hematócrito/veterinaria , Hemoglobinas/análisis , Hemólisis , Recuento de Leucocitos/efectos de los fármacos , Recuento de Leucocitos/veterinaria , Linfocitos/efectos de los fármacos , Masculino , Valores de ReferenciaRESUMEN
The aim of this note is to discuss the relevance of the interaction/integration of monitoring of contaminants for the protection of the marine environment and for human health safety (descriptors 8 and 9, respectively) within the Marine Strategy Framework Directive (MSFD). The identification of possible relations between contaminant levels in sediments and tissues of fish and other seafood, as well as the association of those levels to pollution sources, are major challenges for marine researchers. The Spanish initial assessment in the North-East Atlantic marine region was used as an example to show some gaps and loopholes when dealing with the relationship between descriptors 8 and 9. The main problem to deal with is that monitoring programmes intended for the assessment of marine environmental quality and for human health safety usually apply different approaches and methodologies, and even different tissues are analysed in some species (mainly fish). It is therefore recommended to make a profound revision of current sampling strategies, procedures and methodologies, including the selection of target species and tissues and to improve the traceability of samples of fish and other seafood for human consumption. On the other hand, despite the scope of descriptor 9 which is limited to commercially relevant species, this fact should not be an obstacle in the application of the 'ecosystem approach' within the MSFD. In order to appropriately solve these shortcomings, an information exchange system between authorities dealing with descriptors 8 and 9 should be strongly encouraged for the next steps of the MSFD's implementation.
Asunto(s)
Monitoreo del Ambiente/métodos , Alimentos Marinos/análisis , Animales , Ecosistema , Monitoreo del Ambiente/legislación & jurisprudencia , Contaminación de Alimentos/análisis , Humanos , Agua de Mar/análisis , España , Contaminantes Químicos del Agua/análisisRESUMEN
No disponible
Asunto(s)
Humanos , Niño , Trastornos de la Coagulación Sanguínea/tratamiento farmacológico , Traumatismos Craneocerebrales/complicaciones , Cuidados Críticos/métodos , Coagulación Intravascular Diseminada/tratamiento farmacológico , Trombocitopenia/fisiopatología , Transfusión de Plaquetas , PlasmaRESUMEN
CA125, a tumor marker normally used to follow the clinical course of ovarian cancer, also may have a role in lymphoma. All available series were analyzed using the standard reference value 35 U/ml, but age and sex may influence serum CA125 (sCA125) levels. We aim to study the prognostic value of serum CA125 (sCA125) levels in diffuse large B-cell lymphoma (DLBCL), considering the influence of age and sex on sCA125 levels. We investigated the relationship between sCA125 and clinical outcome after treatment in 42 patients with DLBCL, comparing both the standard (35 U/ml) and a new age and sex adjusted (sex/age-adjusted) reference value proposed by our group. We found that patients with elevated sCA125 levels had significantly more adverse prognostic factors at diagnosis, lower CR rates, higher relapse rates and worse survival. In the low-risk IPI categories, the presence of elevated sCA125 defined a particularly high-risk subgroup with poorer 3-year PFS when compared with patients with normal sCA125 levels. The use of a sex/age-adjusted reference value for sCA125 may increase the sensitivity to identify those patients with elevated sCA125 levels truly related to DLBCL activity.