Search results for "Sang"
showing 10 items of 428 documents
Identification, ecology and use blood meals from hematophagous Diptera (Glossinidae, Stomoxys and Tabanidae) for noninvasive sampling of wildlife in …
2015
The contact between human and wild fauna has considerably increased during these last decades due to the increase of human population size but also to conservation policies. As a consequence, the number of zoonotic diseases soared with a mean of six new infectious diseases per year, 75% of whom being vectorially transmitted. The way to avoid the human contamination by these emergent diseases is based on the efficient vector control resulting from a deep knowledge of the ecology and the feeding behavior of the different vector species. During our work, we have identified and characterized the ecology of 6 tsetse species (Glossina palpalis palpalis, G. fuscipes fuscipes, G. fusca congolense, …
Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel
2017
Abstract The first edition of the European LeukemiaNet (ELN) recommendations for diagnosis and management of acute myeloid leukemia (AML) in adults, published in 2010, has found broad acceptance by physicians and investigators caring for patients with AML. Recent advances, for example, in the discovery of the genomic landscape of the disease, in the development of assays for genetic testing and for detecting minimal residual disease (MRD), as well as in the development of novel antileukemic agents, prompted an international panel to provide updated evidence- and expert opinion-based recommendations. The recommendations include a revised version of the ELN genetic categories, a proposal for …
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor prima…
2015
Background/aim We have noted a phenotype of early-onset retinal dystrophy with macular staphyloma but without high myopia. The aim of this study is to report the underlying genetic mutations and the subcellular localisation of the gene product in the retina. Methods Retrospective case series (2012–2015); immunohistochemical analyses of mammalian retina for in situ protein localisation. Results All three probands were first noted to have decreased vision at 3–6 years old which worsened over time. At ages 39, 37 and 12 years old, all had similar retinal findings: dystrophic changes (retinal pigment epithelium mottling, vessel narrowing), macular staphyloma (despite only mild myopia or high hy…
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.
1999
The clinical courses, neuroimaging and muscle biopsy findings of two infants born to an inbred Arab family are described. They had a syndrome of micrencephaly with simplified gyral pattern, abnormal myelin formation and arthrogryposis. Increased variation of fiber size was seen in the muscle biopsy, creatine kinase, however was normal. Large areas of muscle were replaced by adipofibrous tissue. The infants had dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. The abnormalities were suggestive of microlissencephaly probably associated with a dysgenetic process in the muscles. The syndrome showed an autosomal recessive inheritance.
Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity
2001
In 1988 Greenberg et al. reported an association of fetal hydrops with irregular calcification and moth-eaten skeletal dysplasia. Here, we report on the first case of this disorder accompanied by additional malformations (omphalocele, intestinal malrotation, disturbed fingernails and toes, hypolobated lungs) in a German couple without consanguinity (karyotype 46,XY). Sonograpically, the fetus was characterised by tetraphokomelia, severe generalised hydrops, pulmonal hypoplasia and hepato-splenomegaly. Greenberg dysplasia should be considered in differential diagnosis in cases with severe fetal hydrops and phokomelia on antenatal sonography.
Análisis de la productividad, colaboración e impacto científico de la cardiología española (1999-2008)
2011
De acuerdo con los datos disponibles por Who (2004), alrededor del 50% del total de las muertes en Europa se encuentran relacionadas con enfermedades reumáticas, hipertensión, isquemias, enfermedades cerebrovasculares o enfermedades cardiovasculares e inflamatorias. Según la información proporcionada por el Instituto Nacional de Estadística (2010) las enfermedades cardiovasculares se constituyen como la primera causa de muerte, siendo responsables del 31,7% del total de las defunciones en 2008 en España. Del mismo modo, estas enfermedades tienen asociadas también importantes consecuencias económicas, sociales y en el sistema sanitario, con lo que se están realizando esfuerzos para investiga…
Valor pronóstico de la resonancia magnética cardiaca de estrés con Dipiridamol en pacientes con dolor torácico
2011
1. Objetivos: Evaluar el valor pronóstico de la resonancia magnética (RMC) de estrés con dipiridamol en pacientes con dolor torácico de perfil isquémico utilizando como base la cascada isquémica (CI). 2. Métodos: Incluimos en un registro prospectivo multicéntrico 1725 pacientes con dolor torácico isquémico sin síndrome coronario agudo, remitidos para realización de una RMC de estrés con dipiridamol. Se analizó la extensión (número de segmentos) con disfunción sistólica basal (DS-B), déficit de perfusión con el estrés (DP), disfunción sistólica inducida (DS-I) y realce tardío de gadolinio (RT) (anormal si >1 segmento). En base a la CI se definieron tres grupos de pacientes: C1 (sin evidencia…
Arquitectura abierta encalable para monitorización domiciliaria: aplicación a pacientes con patologías cardiacas
2003
En esta Tesis se propone una arquitectura abierta y escalable destinada a lamonitorizaci´on domiciliaria.Con el aumento de la poblaci´on y la mejora de la calidad y esperanza devida, la ocupaci´on de los hospitales es un problema cada d´ýa m´as acuciante.Desde hace tiempo, se viene pensando como posible soluci´on las consultas ylos cuidados a distancia, lo cual no es otra cosa que la telemedicina.El auge de las telecomunicaciones y su implantaci´on en la sociedad modernahacen viable su uso en medicina, y se presentan como una soluci´on id´oneaal problema citado.En esta Tesis se plantea el uso de tecnolog´ýas y herramientas modernas paraaportar soluciones al problema de la monitorizaci´on de…
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
2020
Abstract Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-onset milder forms to severe perinatal manifestations. The management of newborns with severe pulmonary insufficiency is challenging, and causes of early death are sepsis or respiratory failure. In cases of massive renal enlargement, early bilateral nephrectomy and peritoneal dialysis may reduce infant mortality. However, there is no conclusive data on the role of surgery, and decision-makin…
Thrombotic risk in paroxysmal nocturnal hemoglobinuria-like (PNH-like) phenotype
2020
The complement system is an essential component of the innate immune defence that, if overly activated, may damage organs and tissues. For this reason, there is a fine complement regulatory system. The complement modulation system includes two proteins with important regulatory activity, CD55 or decay accelerating factor (DAF) and CD59 or membrane inhibitor of reactive lysis (MIRL). The paroxysmal nocturnal hemoglobinuria (PNH) is a clonal and non-neoplastic disease characterized by intravascular haemolysis, occurrence of thrombosis and bone marrow failure. In clinical practice, in opposition to PNH, a variety of pathological conditions have been observed with an acquired and non-genetic de…