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1.
J Endocrinol Invest ; 47(8): 2007-2020, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38349517

RESUMEN

PURPOSE: Postmenopausal hyperandrogenism is a rare condition that requires identifying those women bearing a life-threatening tumor. We aimed to study diagnostic work-up and management of postmenopausal androgen excess, proposing an algorithm for clinical decision supporting. METHODS: We conducted an observational cross-sectional study and longitudinal follow-up including 51 consecutive menopausal patients reported for hyperandrogenism between 2003 and 2023 to our clinics. We assessed diagnostic testing accuracy and performance by receiver operating characteristic curves, their respective areas under the curve (AUCROC), and 95% confidence intervals (95%CI), for distinguishing between benign and malignant conditions, and androgen excess source. RESULTS: Most commonly, postmenopausal hyperandrogenism derived from benign conditions such as ovarian hyperthecosis (n = 9). However, four (8%) patients had borderline/malignant tumors arising at the ovaries (n = 3) or adrenals (n = 1). These latter were more likely to develop virilization than those with benign disorders [specificity(95%CI)]: 0.87 (0.69; 0.92)]. Circulating total testosterone [AUCROC(95%CI): 0.899 (0.795; 1.000)] and estradiol [AUCROC(95%CI): 0.912 (0.812; 1.000)] concentrations showed good performances for discriminating between both conditions. Transvaginal-ultrasonography found two out of three potentially malignant ovarian neoplasms, and another was apparent on a pelvic computed tomography scan. An adrenal computed tomography scan also located an androgen-secreting carcinoma. CONCLUSIONS: Clinical or biochemical features of an aggressive androgen-secreting tumor should lead to urgently obtaining a targeted imaging. At first, an abdominal-pelvic CT scan represents the best choice to perceive adrenal malignancy, and may identify aggressive ovarian tumors. When warning signs are lacking, a calm and orderly work-up allows properly addressing the diagnostic challenge of postmenopausal hyperandrogenism.


Asunto(s)
Algoritmos , Andrógenos , Hiperandrogenismo , Posmenopausia , Humanos , Femenino , Hiperandrogenismo/diagnóstico , Persona de Mediana Edad , Estudios Transversales , Andrógenos/sangre , Andrógenos/metabolismo , Anciano , Estudios de Seguimiento , Estudios Longitudinales , Neoplasias Ováricas/diagnóstico , Testosterona/sangre
2.
Sci Total Environ ; 858(Pt 3): 159887, 2023 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-36351500

RESUMEN

Dendroprovenancing provides critical information regarding the origin of wood, allowing further insights into economic exploitation strategies and source regions of timber products. Traditionally, dendroprovenancing relies on pattern-matching of tree rings, but its spatial resolution is limited by the geographical coverage of species-specific chronologies available for crossdating and, in the case of short-distance trades, by scarce environmental variability. Here, we present an approach to provenance timber with high spatial resolution from forested areas that have been exploited intensively throughout history, with the aim to understand the sustainability of the various woodland management practices used to supply timber products. To this end, we combined tree-ring width (TRW), wood anatomical and geochemical analyses in addition to multivariate statistical validation procedures to trace the origin of living oak trees (Quercus robur) sampled in four stands located within a 30-km radius around the city of Limoges (Haute-Vienne, France). We demonstrate that TRW and wood anatomical variables (and in particular cell density) robustly discriminate the eastern from the western site, while failing to trace the origin of trees from the northern and southern sites. Here, strontium isotopic ratios (87Sr/86Sr) and Ca concentrations identify clusters of trees which could not be identified with TRW or wood anatomy. Ultimately, our study demonstrates that the coupling of wood anatomy with geochemical signatures allows to correctly pinpoint the origin of trees. Given the small geographic scale of our study and the limited differences in elevation and climate between study sites, our results are particularly promising for future dendroprovenancing studies. We thus conclude that the combination of multiple approaches will not only increase the accuracy of dendroprovenancing studies at local scales, but could also be implemented at much larger scales to identify trends in historic timber supply throughout Europe.


Asunto(s)
Isótopos , Proyectos de Investigación , Europa (Continente) , Francia , Geografía
3.
Schweiz Arch Tierheilkd ; 164(4): 350-356, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35383032

RESUMEN

INTRODUCTION: Few cases of myelomonocytic leukemia associated with neurological signs have been described in dogs; none have been related to intraparenchymal spinal cord infiltration by neoplastic cells. This short communication describes a case of acute myelomonocytic leukemia subtype M4 in a dog with spinal cord infiltration. A 3-year-old male Golden Retriever was presented with a history of hyperthermia, lymphadenomegaly, leukocytosis with circulating blast cells, anemia and thrombocytopenia, and acute onset paraplegia. Immunophenotyping of peripheral blood by flow cytometry was consistent with acute myelomonocytic leukemia subtype M4. The dog was euthanized because of clinical deterioration and unfavourable prognosis. Postmortem examination revealed multi-organ neoplastic infiltration, including the spinal cord. To our knowledge, this is the first case of acute myelomonocytic leukemia subtype M4 in a dog with spinal cord infiltration. Our findings hold importance for including myelomonocytic leukemia in the differential diagnosis of patients with neurological signs due to spinal cord localisation.


INTRODUCTION: Peu de cas de leucémie myélomonocytaire associés à des signes neurologiques ont été décrits chez le chien ; aucun n'était lié à une infiltration intraparenchymateuse de la moelle épinière par des cellules néoplasiques. Cette courte communication décrit un cas de leucémie aiguë myélomonocytaire de sous-type M4 chez un chien avec infiltration de la moelle épinière. Un Golden Retriever mâle de 3 ans a été présenté avec une anamnèse d'hyperthermie, de lymphadénomégalie, de leucocytose avec des cellules blastiques circulantes, d'anémie et de thrombocytopénie et de paraplégie d'apparition aiguë. L'immunophénotypage du sang périphérique par cytométrie de flux était compatible avec une leucémie myélomonocytaire aiguë de sous-type M4. Le chien a été euthanasié en raison de la détérioration de son état clinique et du pronostic défavorable. L'examen post-mortem a révélé une infiltration néoplasique multi-organique, y compris la moelle épinière. À notre connaissance, il s'agit du premier cas de leucémie aiguë myélomonocytaire de sous-type M4 chez un chien avec infiltration de la moelle épinière. Nos résultats sont importants pour inclure la leucémie myélomonocytaire dans le diagnostic différentiel chez les patients présentant des signes neurologiques dus à une localisation médullaire.


Asunto(s)
Enfermedades de los Perros , Leucemia Mielomonocítica Aguda , Animales , Diagnóstico Diferencial , Enfermedades de los Perros/diagnóstico , Perros , Leucemia Mielomonocítica Aguda/diagnóstico , Leucemia Mielomonocítica Aguda/veterinaria , Masculino , Médula Espinal/diagnóstico por imagen
4.
Sci Rep ; 10(1): 15024, 2020 09 14.
Artículo en Inglés | MEDLINE | ID: mdl-32929148

RESUMEN

Newly developed millennial δ13C larch tree-ring chronology from Siberia allows reconstruction of summer (July) vapor pressure deficit (VPD) changes in a temperature-limited environment. VPD increased recently, but does not yet exceed the maximum values reconstructed during the Medieval Warm Anomaly. The most humid conditions in the Siberian North were recorded in the Early Medieval Period and during the Little Ice Age. Increasing VPD under elevated air temperature affects the hydrology of these sensitive ecosystems by greater evapotranspiration rates. Further VPD increases will significantly affect Siberian forests most likely leading to drought and forest mortality even under additional access of thawed permafrost water. Adaptation strategies are needed for Siberian forest ecosystems to protect them in a warming world.

5.
J Biomed Opt ; 25(3): 1-16, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31833281

RESUMEN

Blood flow is a parameter used to diagnose vascular diseases based on flow speed, blood pressure, and vessel size. Different techniques have been developed to estimate the relative blood flow speed and to improve the visualization of deep blood vessels; one such technique is laser speckle contrast imaging (LSCI). LSCI images contain a high level of noise mainly when deep blood vessels are imaged. To improve their visualization, several approaches for contrast computation have been developed. However, there is a compromise between noise attenuation and temporal resolution. On the one hand, spatial approaches have low spatial resolution, high temporal resolution, and significant noise attenuation, while temporal approaches have the opposite. A recent approach combines a temporal base with a directional process that allows improving the visualization of blood vessels. Nevertheless, it still contains a high level of noise and requires a high number of raw frames for its base. We propose, a space-directional approach focused on improving noise attenuation and temporal resolution for contrast computation. The results of reference approaches and the proposed one are compared quantitatively. Moreover, it is shown that the visualization of blood vessels in LSCI images can be improved by a general morphological process when the noise level is reduced.


Asunto(s)
Velocidad del Flujo Sanguíneo/fisiología , Vasos Sanguíneos/fisiología , Flujometría por Láser-Doppler/métodos , Fantasmas de Imagen , Piel/irrigación sanguínea , Algoritmos , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Flujo Sanguíneo Regional/fisiología
6.
Sci Total Environ ; 684: 496-508, 2019 Sep 20.
Artículo en Inglés | MEDLINE | ID: mdl-31154222

RESUMEN

In the current context of anthropogenic global warming, one of the purposes of dendrogeomorphic analyses is to provide long and continuous chronologies of mass movements, so as to detect potential trends or shift related to increasing temperatures. However, on documented slopes, the comparison between historical archives and tree-ring records suggests that dendrogeomorphic reconstructions systematically underestimate the natural activity of the process under investigation. In the specific case of snow avalanches, underestimation generally amounts to 50% and the main causes generally given for this difference are related to the magnitude of past events. In this study, we hypothesize that the morphometric characteristics of avalanche paths and their forest cover could have significant impacts on the length and reliability of tree-ring reconstructions. In order to test this hypothesis, we selected four adjacent, albeit differently structured, avalanche paths from the Queyras massif (French Alps), with the aim to compare their potential for a continuous reconstruction of past avalanche activity. On the most active avalanche paths characterized by high-altitude release areas (covered only by shrubby vegetation), tree-ring reconstructions do not exceed one century in length, with recurrence intervals of high magnitude events >25 years. By contrast, on forested couloirs where lower slopes and forest coverage up to the release areas limits the intensity of events, the frequency of reconstructed snow avalanches is 2.5 times higher, the reconstructions span longer periods and the convergence rate with historical archives attest to the reliability of the dendrogeomorphic approach. These results suggest that a careful selection of couloirs is essential and that priority should be given to forested sites as (i) they allow for exhaustive and (ii) reliable reconstructions over (iii) long periods of time.


Asunto(s)
Avalanchas/estadística & datos numéricos , Monitoreo del Ambiente/métodos , Nieve , Árboles/crecimiento & desarrollo , Bosques , Francia , Reproducibilidad de los Resultados
7.
Sci Total Environ ; 664: 554-566, 2019 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-30763836

RESUMEN

A better understanding of the respective role of key climatic variables on tree growth is crucial for an accurate assessment of how ongoing global changes may affect both dynamics and distribution of forest tree species in the future. The aim of this study was (i) to explore growth patterns of European larch (Larix decidua Mill.) through a network of tree-ring chronologies developed for the French Alps and (ii) to identify the main climatic drivers explaining radial growth. Climate-growth relationships were coupled with a hierarchical analysis. This relationship revealed significant variability expressed spatially by the existence of five clusters, initially discriminated by an elevational contrast related to (i) a negative correlation between summer temperatures and larch growth at lower elevations and (ii) a stronger response of low-elevation larch stands to winter precipitation. In the high-elevation clusters, tree growth depends on previous autumn and current summer temperatures and water supply in July. The differentiation, that portrays a strong geographical coherence, is mainly related to the latitudinal gradient; (i) the northwestern stands are mostly sensitive to high temperatures in summer; (ii) the growth of the southernmost clusters is equally driven by temperatures during autumn, winter, and summers; (iii) the populations of a cluster located in a transitional zone of the inner French Alps, subject to both Mediterranean and Continental influences, exhibit negative correlations to late winter and early spring precipitation. This significant spatial heterogeneity of climate-tree ring relationships in L. decidua clearly underlines the high plasticity of the species to adapt its growth to local climate conditions.


Asunto(s)
Clima , Bosques , Larix/fisiología , Francia , Estaciones del Año , Temperatura
8.
Biochim Biophys Acta Mol Basis Dis ; 1864(6 Pt A): 2131-2142, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29601977

RESUMEN

Leigh syndrome (LS) associated with cytochrome c oxidase (COX) deficiency is an early onset, fatal mitochondrial encephalopathy, leading to multiple neurological failure and eventually death, usually in the first decade of life. Mutations in SURF1, a nuclear gene encoding a mitochondrial protein involved in COX assembly, are among the most common causes of LS. LSSURF1 patients display severe, isolated COX deficiency in all tissues, including cultured fibroblasts and skeletal muscle. Recombinant, constitutive SURF1-/- mice show diffuse COX deficiency, but fail to recapitulate the severity of the human clinical phenotype. Pigs are an attractive alternative model for human diseases, because of their size, as well as metabolic, physiological and genetic similarity to humans. Here, we determined the complete sequence of the swine SURF1 gene, disrupted it in pig primary fibroblast cell lines using both TALENs and CRISPR/Cas9 genome editing systems, before finally generating SURF1-/- and SURF1-/+ pigs by Somatic Cell Nuclear Transfer (SCNT). SURF1-/- pigs were characterized by failure to thrive, muscle weakness and highly reduced life span with elevated perinatal mortality, compared to heterozygous SURF1-/+ and wild type littermates. Surprisingly, no obvious COX deficiency was detected in SURF1-/- tissues, although histochemical analysis revealed the presence of COX deficiency in jejunum villi and total mRNA sequencing (RNAseq) showed that several COX subunit-encoding genes were significantly down-regulated in SURF1-/- skeletal muscles. In addition, neuropathological findings, indicated a delay in central nervous system development of newborn SURF1-/- piglets. Our results suggest a broader role of sSURF1 in mitochondrial bioenergetics.


Asunto(s)
Sistema Nervioso Central/crecimiento & desarrollo , Modelos Animales de Enfermedad , Enfermedad de Leigh/genética , Proteínas de la Membrana/genética , Proteínas Mitocondriales/genética , Sus scrofa/genética , Animales , Animales Modificados Genéticamente , Animales Recién Nacidos , Conducta Animal , Sistemas CRISPR-Cas , Células Cultivadas , Regulación hacia Abajo , Complejo IV de Transporte de Electrones/metabolismo , Femenino , Fibroblastos , Edición Génica , Técnicas de Inactivación de Genes , Humanos , Yeyuno/patología , Enfermedad de Leigh/patología , Masculino , Mitocondrias/patología , Músculo Esquelético/citología , Músculo Esquelético/patología , Técnicas de Transferencia Nuclear , Cultivo Primario de Células
9.
Food Res Int ; 100(Pt 2): 227-234, 2017 10.
Artículo en Inglés | MEDLINE | ID: mdl-28888445

RESUMEN

Edible flowers have gained more attention in recent years thanks to their perceived health benefits. Despite this attention, it seems that edible flowers are not popularized for consumption in South America, being considered unfamiliar for some cultures from this continent. In this context, the general goal of the present study was to investigate the three dimensions of social representation theory, the representational field, the information and the attitude of the two conditions of edible flowers: a more general "food made with flowers" and more directional product "yoghurt made with flowers", using Brazilian consumers. To achieve this goal, a free word association task was applied. A total of 549 consumers participated in this study. Participants were divided into two conditions, in which the inductor expressions for the free word association task changed: (a) food products made with flowers and (b) yoghurt made with flowers. Results showed a very positive attitude to both situations, and consumers associated Food products made with flowers to "health care" while the central core of yoghurt made with flowers reflected the innovative condition of this product, supported here by their unpredictable character (information generated).


Asunto(s)
Conducta de Elección , Comportamiento del Consumidor , Flores , Preferencias Alimentarias , Plantas Comestibles , Adulto , Brasil , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , Masculino , Persona de Mediana Edad , Motivación , Adulto Joven
10.
Sci Rep ; 7: 45027, 2017 03 22.
Artículo en Inglés | MEDLINE | ID: mdl-28327591

RESUMEN

Badlands and gullied areas are among those geomorphic environments with the highest erosion rates worldwide. Nevertheless, records of their evolution and their relations with anthropogenic land transformation are scarcer. Here we combine historical data with aerial photographs and tree-ring records to reconstruct the evolution of a badland in a Mediterranean environment of Central Spain. Historical sources suggest an anthropogenic origin of this badland landscape, caused by intense quarrying activities during the 18th century. Aerial photographs allowed detection of dramatic geomorphic changes and the evolution of an emerging vegetation cover since the 1960s, due to widespread reforestation. Finally, tree-ring analyses of exposed roots allowed quantification of recent channel incision of the main gully, and sheet erosion processes. Our results suggest that reforestation practices have influenced the initiation of an episode of incision in the main channel in the 1980s, through the hypothesized creation of disequilibrium in water-sediment balance following decoupling of hillslopes from channel processes. These findings imply an asymmetry in the geomorphic response of badlands to erosion such that in the early evolution stages, vegetation removal results in gullying, but that reforestation alone does not necessarily stabilize the landforms and may even promote renewed incision.

11.
Sci Total Environ ; 586: 1020-1031, 2017 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-28214115

RESUMEN

Rhododendron ferrugineum L. is a widespread dwarf shrub species growing in high-elevation, alpine environments of the Western European Alps. For this reason, analysis of its growth rings offers unique opportunities to push current dendrochronological networks into extreme environments and way beyond the treeline. Given that different species of the same genus have been successfully used in tree-ring investigations, notably in the Himalayas where Rhododendron spp. has proven to be a reliable climate proxy, this study aims at (i) evaluating the dendroclimatological potential of R. ferrugineum and at (ii) determining the major limiting climate factor driving its growth. To this end, 154 cross-sections from 36 R. ferrugineum individuals have been sampled above local treelines and at elevations from 1800 to 2100masl on northwest-facing slopes of the Taillefer massif (French Alps). We illustrate a 195-year-long standard chronology based on growth-ring records from 24 R. ferrugineum individuals, and document that the series is well-replicated for almost one century (1920-2015) with an Expressed Population Signal (EPS) >0.85. Analyses using partial and moving 3-months correlation functions further highlight that growth of R. ferrugineum is governed by temperatures during the growing season (May-July), with increasingly higher air temperatures favoring wider rings, a phenomenon which is well known from dwarf shrubs growing in circum-arctic tundra ecosystems. Similarly, the negative effect of January-February precipitation on radial growth of R. ferrugineum, already observed in the Alps on juniper shrubs, is interpreted as a result of shortened growing seasons following snowy winters. We conclude that the strong and unequivocal signals recorded in the fairly long R. ferrugineum chronologies can indeed be used for climate-growth studies as well as for the reconstruction of climatic fluctuations in Alpine regions beyond the upper limits of present-day forests.


Asunto(s)
Clima , Rhododendron/crecimiento & desarrollo , Estaciones del Año , Altitud , Ecosistema , Francia , Nieve , Temperatura
12.
Sci Total Environ ; 557-558: 142-53, 2016 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-26994802

RESUMEN

Two key factors can affect the functional ability of protection structures in mountains torrents, namely (i) infrastructure maintenance of existing infrastructures (as a majority of existing works is in the second half of their life cycle), and (ii) changes in debris-flow activity as a result of ongoing and expected future climatic changes. Here, we explore the applicability of a stochastic life-cycle performance to assess debris-flow risk in the heavily managed Wartschenbach torrent (Lienz region, Austria) and to quantify associated, expected economic losses. We do so by considering maintenance costs to restore infrastructure in the aftermath of debris-flow events as well as by assessing the probability of check dam failure (e.g., as a result of overload). Our analysis comprises two different management strategies as well as three scenarios defining future changes in debris-flow activity resulting from climatic changes. At the study site, an average debris-flow frequency of 21 events per decade was observed for the period 1950-2000; activity at the site is projected to change by +38% to -33%, according to the climate scenario used. Comparison of the different management alternatives suggests that the current mitigation strategy will allow to reduce expected damage to infrastructure and population almost fully (89%). However, to guarantee a comparable level of safety, maintenance costs is expected to increase by 57-63%, with an increase of maintenance costs by ca. 50% for each intervention. Our analysis therefore also highlights the importance of taking maintenance costs into account for risk assessments realized in managed torrent systems, as they result both from progressive and event-related deteriorations. We conclude that the stochastic life-cycle performance adopted in this study represents indeed an integrated approach to assess the long-term effects and costs of prevention structures in managed torrents.

13.
Cir Pediatr ; 28(4): 177-183, 2015 Oct 10.
Artículo en Español | MEDLINE | ID: mdl-27775294

RESUMEN

BACKGROUND: Multiple approaches to the treatment of simple and complicated (gangrenous or perforated) appendicitis in children have been promoted. Our goal is to develop a new protocol for these patients that allows shorter hospital stays without increasing complications rates. METHODS: Prospective collected data of patients undergoing appendicitis treated according to the new protocol for a period of 7 months were reviewed. This protocol consists on antibiotic prophylaxis in all cases continued with triple antibiotic regimen in complicated appendicitis. Antibiotics were stopped when specific clinical and laboratory criteria were met. Outcomes are compared to a historical group of patients treated under standard protocol (antibiotic prophylaxis followed by 48 hours of dual antibiotic therapy in simple appendicitis or 5 day-course of triple antibiotic therapy in complicated as postooperative antibiotic regimen). RESULTS: A total of 196 patients (96 current group and 100 historical group) were reviewed. In simple appendicitis average length of postoperative hospitalization was significantly lower in the current group (no statistical difference). 52.9% of complicated appendicitis in the current group were discharged home before 5th day without increasing the complication rate. When a wound infection or intraabdominal abscess occurs thrombocytosis (52%) and prolonged vomiting are the most frequent symptoms. CONCLUSION: No further postoperative treatment is needed in simple appendicitis. In complicated appendictis a short course of antibiotics according to clinical and laboratory criteria allows early discharge without major morbidity. Prolonged postoperative vomiting and thrombocytosis suggest infectious complications.


OBJETIVOS: Existen múltiples modalidades de tratamiento antibioterápico tras una apendicectomía en niños. Nuestro objetivo es desarrollar un nuevo protocolo para el tratamiento de las apendicitis que permita acortar la estancia hospitalaria sin aumentar las complicaciones. MATERIAL Y METODOS: Estudio prospectivo que analiza a los pacientes intervenidos de apendicitis tratados según el nuevo protocolo de antibioterapia durante un periodo de 7 meses. Dicho protocolo consiste en profilaxis quirúrgica en todos los casos y continuar con triple antibioterapia en las evolucionadas, con una duración variable según criterios clínico-analíticos establecidos previamente. Se comparan los resultados con los de un grupo histórico de pacientes tratados con el protocolo clásico (profilaxis y 48 horas de doble antibioterapia en las flemonosas y 5 días de triple en las evolucionadas). RESULTADOS: Se estudian un total de 196 pacientes (96 grupo actual y 100 grupo histórico). En las apendicitis flemonosas la estancia hospitalaria postquirúrgica media es significativamente menor en el grupo actual sin encontrar diferencias estadísticas en la tasa de complicaciones. El 52,9% de las apendicitis evolucionadas del grupo actual fueron dadas de alta antes del 5º día sin aumentar la tasa de complicaciones. De los pacientes que presentaron una complicación infecciosa el 52% asociaban trombocitosis y la clínica más frecuente fue de vómitos prolongados. CONCLUSIONES: No es necesario tratamiento antibioterápico postoperatorio en apendicitis simples. En las evolucionadas un tratamiento corto de antibióticos según criterios clínico-analíticos permite un alta precoz sin mayor morbilidad asociada. Los vómitos prolongados y la trombocitosis son indicadores de complicaciones infecciosas postoperatorias.

14.
Neurodegener Dis ; 13(4): 246-54, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24157939

RESUMEN

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that occurs in two clinically indistinguishable forms: sporadic (SALS) and familial (FALS), the latter linked to several gene mutations, mostly inheritable in a dominant manner. Nearly 20% of FALS forms are linked to mutations in the Cu/Zn superoxide dismutase (SOD1) gene. Research on ALS relies on transgenic models and particularly on mice carrying a glycine-to-alanine conversion at the 93rd codon (G93A) of the hSOD1 gene. Although G93A transgenic mice have been widely employed in clinical trials and basic research, doubts have been recently raised from numerous reliable sources about their suitability to faithfully reproduce human disease. Besides, the scientific community has already foreseen swine as an attractive and alternative model to nonhuman primates for modeling human diseases due to closer anatomical, physiological and biochemical features of swine rather than rodents to humans. On this basis, we have produced the first swine ALS model by in vitro transfection of cultured somatic cells combined with somatic cell nuclear transfer (SCNT). To achieve this goal we developed a SOD1(G93A) (superoxide dismutase 1 mutated in Gly93-Ala) vector, capable of promoting a high and stable transgene expression in primary porcine adult male fibroblasts (PAF). After transfection, clonal selection and transgene expression level assessment, selected SOD1(G93A) PAF colonies were used as nuclei donors in SCNT procedures. SOD1(G93A) embryos were transferred in recipient sows, and pregnancies developed to term. A total of 5 piglets survived artificial hand raising and weaning and developed normally, reaching adulthood. Preliminary analysis revealed transgene integration and hSOD1(G93A) expression in swine tissues and 360° phenotypical characterization is ongoing. We believe that our SOD1(G93A) swine would provide an essential bridge between the fundamental work done in rodent models and the reality of treating ALS.


Asunto(s)
Esclerosis Amiotrófica Lateral/genética , Animales Modificados Genéticamente , Modelos Animales de Enfermedad , Superóxido Dismutasa/genética , Porcinos/genética , Animales , Humanos , Masculino , Superóxido Dismutasa-1
15.
Cir Pediatr ; 26(2): 81-5, 2013 Apr.
Artículo en Español | MEDLINE | ID: mdl-24228358

RESUMEN

UNLABELLED: INTRODUCTION AND OBJETIVES: Minimal invasive surgery trends to get prompt recovery in terms of inmediate deambulation and early discharge from hospital, without increasing patient's discomfort neither postoperative complications. This "fast-track" protocol is being progresively introduced in a crescent number of urological procedures. We are evaluating the viability of applying it in retroperitoneoscopic prone- position nephrectomy. METHODS AND MATERIALS: We have performed a retrospective review of the clinical reports of the patients submitted to prone nephrectomy with hospitalization between 2007 and 2011 and we present patients submitted to this procedure in an outpatient basis (less than 8 hours hospital stay) from 2011. We have recorded epidemiological factors, diagnosis, surgical time, first postoperative week analgesic requirements, parents cofort and postoperative complications. RESULTS: All the procedures were performed retroperitoneoscopically in prone position using two trocars. We included 34 nephrectomies with a mean surgical time of 107 minutes. Mean postoperative stay was under 24 hours in 23 patients, two of them were discharged in the first 8 hours after the procedure. Hospital stay over this time was due to concomitant pre-existent pathology in 6 patients and to non urological fever in the remaining 3. Analgesia was excellent in every patient with endovenous non-steroid drugs, registering no pain after administering them orally. There were no complications. CONCLUSIONS: We believe that "fast-track" requirements can be applied to prone-retroperitoneoscopic nephrectomy in pediatric population, as long as they have no associated pathology. In our experience this surgical procedure can be included in day-case surgery, increasing patient's confort and with a positive economical impact.


Asunto(s)
Nefrectomía/métodos , Niño , Preescolar , Protocolos Clínicos , Femenino , Humanos , Lactante , Laparoscopía , Masculino , Posicionamiento del Paciente , Estudios Retrospectivos
16.
Cir Pediatr ; 26(1): 25-9, 2013 Jan.
Artículo en Español | MEDLINE | ID: mdl-23833924

RESUMEN

INTRODUCTION: Minimally Invasive Surgery (MIS) is getting more and more important in our specialty. However, the formation of the residents on MIS is, in many cases, irregular. The purpose of this study is to assess the state of training in MIS among the residents of Pediatric Surgery and their potential weaknesses. MATERIAL AND METHODS: An electronic survey was distributed among 71 residents of Pediatric Surgery from 17 national hospitals. RESULTS: The response rate was 70.2%.100% of the residents are interested in a broadening of training activities in MIS. The main areas of interest are gastrointestinal (92%) and thoracic (47%) surgery. Only 57% have access to training facilities and less than half of them attend to courses and conferences. 80% believe that they are not given adequate attention from specialized associations. 52% think they should do rotations at referral centers, 86% that courses and seminars should be enhanced, and 44% that the responsibility of the resident in surgery should be increased. The main defects encountered in their training are scarce volume of patients, lack of financial support and overcoming the learning curve of surgeons in their services. CONCLUSIONS: Despite the advance of the MIS, resident's training in this discipline still has shortcomings, as expressed in their views. Knowledge of the current state of training should be the starting point for designing a training strategy that ensures adequate skills.


Asunto(s)
Internado y Residencia , Procedimientos Quirúrgicos Mínimamente Invasivos/educación , Pediatría/educación , Adulto , Femenino , Humanos , Masculino
17.
Cell Death Dis ; 3: e448, 2012 Dec 20.
Artículo en Inglés | MEDLINE | ID: mdl-23254291

RESUMEN

In this study, we investigated the effects of long-term (9-month) treatment with pioglitazone (PIO; 20 mg/kg/d) in two animal models of Alzheimer's disease (AD)-related neural dysfunction and pathology: the PS1-KI(M146V) (human presenilin-1 (M146V) knock-in mouse) and 3xTg-AD (triple transgenic mouse carrying AD-linked mutations) mice. We also investigated the effects on wild-type (WT) mice. Mice were monitored for body mass changes, fasting glycemia, glucose tolerance, and studied for changes in brain mitochondrial enzyme activity (complexes I and IV) as well as energy metabolism (lactate dehydrogenase (LDH)). Cognitive effects were investigated with the Morris water maze (MWM) test and the object recognition task (ORT). Behavioral analysis revealed that PIO treatment promoted positive cognitive effects in PS1-KI female mice. These effects were associated with normalization of peripheral gluco-regulatory abnormalities that were found in untreated PS1-KI females. PIO-treated PS1-KI females also showed no statistically significant alterations in brain mitochondrial enzyme activity but significantly increased reverse LDH activity.PIO treatment produced no effects on cognition, glucose metabolism, or mitochondrial functioning in 3xTg-AD mice. Finally, PIO treatment promoted enhanced short-term memory performance in WT male mice, a group that did not show deregulation of glucose metabolism but that showed decreased activity of complex I in hippocampal and cortical mitochondria. Overall, these results indicate metabolically driven cognitive-enhancing effects of PIO that are differentially gender-related among specific genotypes.


Asunto(s)
Enfermedad de Alzheimer/tratamiento farmacológico , Enfermedad de Alzheimer/metabolismo , Cognición/efectos de los fármacos , Glucosa/metabolismo , Presenilina-1/genética , Tiazolidinedionas/farmacología , Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/psicología , Animales , Modelos Animales de Enfermedad , Femenino , Humanos , Masculino , Ratones , Ratones Transgénicos , Pioglitazona , Presenilina-1/metabolismo , Factores de Tiempo
18.
J Neurosurg Sci ; 56(4): 373-8, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23111299

RESUMEN

The authors report two cases of thoracic spinal canal stenosis (SCS) and myelopathy. One is extremely unusual because of degenerative changes occurred in the upper thoracic spine. The other because of its multiple etiology among which calcification and ossification of the ligamentum flavum (OLF) in a Caucasian man. Both patients presented with an history of slowly progressive spastic paraparesis. In the first case computed tomography (CT) scans and magnetic resonance (MR) images revealed hypertrophy of the legamentum flavum and laminae causing compression of the spinal cord at T2-T3. In the second case diagnostic imaging showed three levels of stenosis in the lower thoracic spine due to degenerative changes, calcification and OLF with cord damage at T9-T10. A decompressive laminectomy and medial facetectomy was performed in both patients. The ligamentum flavum, hypertrophied and infolded in the first case and calcified and ossified in the second, was removed with careful dissection of the dural adhesions. Both patients showed a rapid post-operative recovery and regained autonomous walking within 1 month of surgery. Thoracic spinal cord stenosis is a rare and complex disorder because of differential diagnosis, neuroimaging features and treatment options. Regardless of its cause, prompt surgical decompression plays a key role in improving the functional outcome of myelopathy.


Asunto(s)
Ligamento Amarillo/cirugía , Compresión de la Médula Espinal/cirugía , Estenosis Espinal/cirugía , Vértebras Torácicas/cirugía , Humanos , Laminectomía , Ligamento Amarillo/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Radiografía , Compresión de la Médula Espinal/diagnóstico por imagen , Compresión de la Médula Espinal/etiología , Estenosis Espinal/complicaciones , Estenosis Espinal/diagnóstico por imagen , Vértebras Torácicas/diagnóstico por imagen , Resultado del Tratamiento
19.
Actas Urol Esp ; 36(2): 117-20, 2012 Feb.
Artículo en Español | MEDLINE | ID: mdl-21955558

RESUMEN

OBJECTIVE: Transurethral puncture or endoscopic unroofing is the best treatment currently used for both orthotopic and ectopic ureteroceles. However, they have a high incidence of secondary vesicoureteral reflux and subsequent procedures in both groups. We present a new technique for treatment of orthotopic ureterocele. MATERIAL AND METHODS: We have analyzed 4 patients with orthotopic ureterocele (9.7 ± 6.2 months old) treated by dilatation of the meatus of the ureterocele. No patient had vesicoureteral reflux or duplicate systems. The indication was pyonephrosis in 2 children and progressive worsening of hydronephrosis in 2. Dilatation was performed with 5 or 6mm high-pressure balloon after inserting a stent with guidewire of 0.014" to the ureterocele. RESULTS: There were no intraoperative or postoperative complications, surgical time being 24 ± 9minutes. All patients were discharged at 24 postoperative hours. Ureterohydronephrosis disappeared in all the children and they continue asymptomatic after 35 ± 22.5 months of follow-up. There were no cases of secondary vesicoureteral reflux and renal scan was unchanged after treatment. CONCLUSIONS: High pressure balloon dilatation of the meatus in cases of orthotopic ureterocele is a fast, safe and successful surgical technique. We did not find any cases of secondary vesicoureteral reflux or subsequent procedures in our series, so we believe this may offer significant benefits over the transurethral puncture in such patients.


Asunto(s)
Cateterismo/métodos , Ureterocele/terapia , Cistoscopía , Humanos , Hidronefrosis/etiología , Lactante , Complicaciones Posoperatorias , Diagnóstico Prenatal , Presión , Pionefrosis/etiología , Ultrasonografía , Ureterocele/complicaciones , Ureterocele/diagnóstico , Ureterocele/diagnóstico por imagen
20.
Cir Pediatr ; 25(3): 129-34, 2012 Jul.
Artículo en Español | MEDLINE | ID: mdl-23480008

RESUMEN

UNLABELLED: The incidence of surgical wound infections in neonates is high and it has an associated morbidity which extends hospital stay and gets a worse prognosis. The purpose of this study is to analyze the risk factors associated with the development of surgical wound infection and to identify susceptible patients with modifiable factors. MATERIAL AND METHODS: Case-control study of 90 surgical procedures underwent in newborns. We analyze pre-, intra- and postoperative risk factors. MAIN RESULTS: There are statically significant differences in terms of wound infection in dirty and contaminated surgery, reoperation, lavage of abdominal cavity, preoperative hospital stay longer than 8 days and wound closure with reabsorbable material. Furthermore, the surgical site infection is more likely in preterms patients, with a previous positive culture infection and the use of invasive devices as mechanical ventilation or central venous access. We found no relationship between wound infection and surgical time, bleeding during surgery and preoperative skin preparation with antiseptics. CONCLUSIONS: Reoperative patients, in which dirty and contaminated surgery is performed, absorbable material for skin is used and who have a preoperative hospital stay longer than 8 days, are in risk of developping wound infection and they will require an aggressive antibiotic treatment and special postsurgical care.


Asunto(s)
Infección de la Herida Quirúrgica/epidemiología , Estudios de Casos y Controles , Humanos , Incidencia , Recién Nacido , Estudios Retrospectivos , Factores de Riesgo
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