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1.
Neurología (Barc., Ed. impr.) ; 39(1): 84-96, Jan.-Feb. 2024. ilus, tab, graf
Article in Spanish | IBECS | ID: ibc-EMG-448

ABSTRACT

Introducción La comunicación y el lenguaje de las personas con trastorno del espectro autista (TEA) son algunos de los aspectos que más frecuentemente se ven alterados en este trastorno del neurodesarrollo. Cuando un niño que recibe el diagnóstico de TEA vive en un entorno bilingüe, los padres con frecuencia manifiestan su preocupación sobre si sus hijos deberían aprender dos idiomas simultáneamente y acuden a especialistas para ser aconsejados al respecto. A pesar de que no exista evidencia de sus efectos negativos, algunos profesionales se han mostrado en desacuerdo. Este trabajo pretende conocer si el bilingüismo afecta al lenguaje de niños con TEA. Desarrollo Se ha realizado una revisión de la literatura científica publicada en cuatro bases de datos y siguiendo una serie de criterios se han seleccionado 12 artículos publicados en revistas científicas. Participaron 328 niños diagnosticados con TEA (169 bilingües y 159 monolingües) con edades entre los 3 y 12 años, evaluados con diferentes pruebas de lenguaje receptivo y expresivo que abarcan áreas diversas. La evaluación se realizó de modo directo a los niños, aunque también se evaluaron indirectamente a los padres en algunos trabajos. Conclusiones Se ha comprobado en esta revisión que existe acuerdo sobre que el bilingüismo no supone ninguna dificultad adicional para el desarrollo del lenguaje de niños con TEA a partir de los 3 años. (AU)


Introduction Communication and language skills are among the most severely affected domains in individuals with autistic spectrum disorder (ASD). When a child diagnosed with ASD lives in a bilingual environment, the parents often express concerns about whether their child should learn both languages simultaneously, turning to specialists for advice. Despite the lack of evidence of any negative effect, some professionals disagree on this subject. In this systematic review we study whether bilingualism affects language development in children with ASD. Methods We reviewed the literature published in 4 different databases. After applying a series of selection criteria, we selected 12 scientific articles, including a total of 328 children diagnosed with ASD (169 bilingual and 159 monolingual), with ages ranging from 3 to 12 years. These patients were evaluated with different receptive and expressive language assessment instruments covering several areas. The assessments were performed directly on the children, although indirect assessment of parents was also performed in some studies. Conclusions There seems to be consensus regarding the assertion that bilingualism does not entail any additional difficulty for language development in children with ASD from the age of 3. (AU)


Subject(s)
Child, Preschool , Child , Autism Spectrum Disorder , Multilingualism , Language
2.
Neurología (Barc., Ed. impr.) ; 39(1): 84-96, Jan.-Feb. 2024. ilus, tab, graf
Article in Spanish | IBECS | ID: ibc-229831

ABSTRACT

Introducción La comunicación y el lenguaje de las personas con trastorno del espectro autista (TEA) son algunos de los aspectos que más frecuentemente se ven alterados en este trastorno del neurodesarrollo. Cuando un niño que recibe el diagnóstico de TEA vive en un entorno bilingüe, los padres con frecuencia manifiestan su preocupación sobre si sus hijos deberían aprender dos idiomas simultáneamente y acuden a especialistas para ser aconsejados al respecto. A pesar de que no exista evidencia de sus efectos negativos, algunos profesionales se han mostrado en desacuerdo. Este trabajo pretende conocer si el bilingüismo afecta al lenguaje de niños con TEA. Desarrollo Se ha realizado una revisión de la literatura científica publicada en cuatro bases de datos y siguiendo una serie de criterios se han seleccionado 12 artículos publicados en revistas científicas. Participaron 328 niños diagnosticados con TEA (169 bilingües y 159 monolingües) con edades entre los 3 y 12 años, evaluados con diferentes pruebas de lenguaje receptivo y expresivo que abarcan áreas diversas. La evaluación se realizó de modo directo a los niños, aunque también se evaluaron indirectamente a los padres en algunos trabajos. Conclusiones Se ha comprobado en esta revisión que existe acuerdo sobre que el bilingüismo no supone ninguna dificultad adicional para el desarrollo del lenguaje de niños con TEA a partir de los 3 años. (AU)


Introduction Communication and language skills are among the most severely affected domains in individuals with autistic spectrum disorder (ASD). When a child diagnosed with ASD lives in a bilingual environment, the parents often express concerns about whether their child should learn both languages simultaneously, turning to specialists for advice. Despite the lack of evidence of any negative effect, some professionals disagree on this subject. In this systematic review we study whether bilingualism affects language development in children with ASD. Methods We reviewed the literature published in 4 different databases. After applying a series of selection criteria, we selected 12 scientific articles, including a total of 328 children diagnosed with ASD (169 bilingual and 159 monolingual), with ages ranging from 3 to 12 years. These patients were evaluated with different receptive and expressive language assessment instruments covering several areas. The assessments were performed directly on the children, although indirect assessment of parents was also performed in some studies. Conclusions There seems to be consensus regarding the assertion that bilingualism does not entail any additional difficulty for language development in children with ASD from the age of 3. (AU)


Subject(s)
Child, Preschool , Child , Autism Spectrum Disorder , Multilingualism , Language
3.
Neurologia (Engl Ed) ; 39(1): 84-96, 2024.
Article in English | MEDLINE | ID: mdl-38065434

ABSTRACT

INTRODUCTION: Communication and language skills are among the most severely affected domains in individuals with autistic spectrum disorder (ASD). When a child diagnosed with ASD lives in a bilingual environment, the parents often express concerns about whether their child should learn both languages simultaneously, turning to specialists for advice. Despite the lack of evidence of any negative effect, some professionals disagree on this subject. In this systematic review we study whether bilingualism affects language development in children with ASD. METHODS: We reviewed the literature published in 4 different databases. After applying a series of selection criteria, we selected 12 scientific articles, including a total of 328 children diagnosed with ASD (169 bilingual and 159 monolingual), with ages ranging from 3 to 12 years. These patients were evaluated with different receptive and expressive language assessment instruments covering several areas. The assessments were performed directly on the children, although indirect assessment of parents was also performed in some studies. CONCLUSIONS: There seems to be consensus regarding the assertion that bilingualism does not entail any additional difficulty for language development in children with ASD from the age of 3.


Subject(s)
Autism Spectrum Disorder , Multilingualism , Child , Humans , Language , Language Development , Parents
4.
Clin Linguist Phon ; : 1-19, 2023 Jul 21.
Article in English | MEDLINE | ID: mdl-37477233

ABSTRACT

Autism Spectrum Disorder (ASD) and Developmental Language Disorder (DLD) have traditionally been considered separate disorders, although some similarities and overlaps in certain aspects of language have been detected. In this paper, we compare the deficits in receptive grammar in these two disorders. We analyse the proportion of grammatical errors in relation to semantic complexity in 84 children divided into four groups: children with autism language impairment (ALI), with autism language normal (ALN), with DLD, and with typical development (TD), all groups with the same age of receptive vocabulary. The results show significant differences in the comprehension of grammatical structures, both simple (canonical and non-reversible) and complex (non-canonical and reversible). Children with ASD and DLD show different language profiles depending on the syntactic complexity. In the simplest structures, no differences are found between the groups, starting at an equivalent vocabulary age of 7:8 years. However, there are differences between the ALI and DLD groups with respect to the TD group in the more complex structures, starting at an equivalent vocabulary age of 3 years. Therefore, both groups ALI and DLD present the greatest difficulties compared to ALN and TD. The paper discusses the importance of attending to these differences, since the repercussion of comprehension difficulties increases as children grow.

5.
Neurologia (Engl Ed) ; 2021 Jun 01.
Article in English, Spanish | MEDLINE | ID: mdl-34088533

ABSTRACT

INTRODUCTION: Communication and language skills are among the most severely affected domains in individuals with autistic spectrum disorder (ASD). When a child diagnosed with ASD lives in a bilingual environment, the parents often express concerns about whether their child should learn both languages simultaneously, turning to specialists for advice. Despite the lack of evidence of any negative effect, some professionals disagree on this subject. In this systematic review we study whether bilingualism affects language development in children with ASD. METHODS: We reviewed the literature published in 4 different databases. After applying a series of selection criteria, we selected 12 scientific articles, including a total of 328 children diagnosed with ASD (169 bilingual and 159 monolingual), with ages ranging from 3 to 12 years. These patients were evaluated with different receptive and expressive language assessment instruments covering several areas. The assessments were performed directly on the children, although indirect assessment of parents was also performed in some studies. CONCLUSIONS: There seems to be consensus regarding the assertion that bilingualism does not entail any additional difficulty for language development in children with ASD from the age of 3.

6.
Sci Rep ; 11(1): 3425, 2021 02 09.
Article in English | MEDLINE | ID: mdl-33564080

ABSTRACT

Cellulosic ethanol derived from fast growing C4 grasses could become an alternative to finite fossil fuels. With the potential to generate a major source of lignocellulosic biomass, maize has gained importance as an outstanding model plant for studying the complex cell wall network and also to optimize crop breeding strategies in bioenergy grasses. A genome-wide association study (GWAS) was conducted using a subset of 408 Recombinant Inbred Lines (RILs) from a Multi-Parent Advanced Generation Intercross (MAGIC) Population in order to identify single nucleotide polymorphisms (SNPs) associated with yield and saccharification efficiency of maize stover. We identified 13 SNPs significantly associated with increased stover yield that corresponded to 13 QTL, and 2 SNPs significantly associated with improved saccharification efficiency, that could be clustered into 2 QTL. We have pointed out the most interesting SNPs to be implemented in breeding programs based on results from analyses of averaged and yearly data. Association mapping in this MAGIC population highlight genomic regions directly linked to traits that influence the final use of maize. Markers linked to these QTL could be used in genomic or marker-assisted selection programs to improve biomass quality for ethanol production. This study opens a possible optimisation path for improving the viability of second-generation biofuels.

7.
Rev Neurol ; 72(3): 67-76, 2021 Feb 01.
Article in Spanish | MEDLINE | ID: mdl-33506484

ABSTRACT

INTRODUCTION: The neuropsychological profile of patients with mild cognitive impairment (MCI) has been the target of several investigations. However, few works have been published about the language profile in these patients. AIM: To analyse and integrate the published scientific literature about this topic after the systematic review carried out by Johnson and Lin in 2014. SUBJECTS AND METHODS: A systematic review was carried out in which three databases (Web of Science, PubMed and PsycInfo) were consulted. Seventeen studies have been analysed, with adult participants diagnosed with MCI, that included at least one control group, and studies that evaluated language parameters. A self-made registration protocol has been applied to encode the characteristics and results of the studies; and the quality of the studies and articles has been evaluated through a self-elaboration scale based on previously validated instruments. RESULTS: Patients with MCI can present deficits in naming, speech production, oral comprehension, and written comprehension. CONCLUSIONS: It is important to evaluate language in patients with MCI, although this exploration does not allow establishing a diagnosis on by itself. However, the pathology variability associated with the diagnosis, the age, the language, and the educational level of the participants, as well as the sample size, and the instruments and measures used to evaluate the language in the studies reviewed, make impossible to obtain a conclusive statement, so further research about this topic is needed.


TITLE: Alteraciones lingüísticas en pacientes con deterioro cognitivo leve. Revisión sistemática.Introducción. El perfil neuropsicológico de los pacientes con deterioro cognitivo leve ha sido objeto de estudio de diversas investigaciones. Sin embargo, se han publicado relativamente pocos trabajos sobre las características del lenguaje en estos pacientes. Objetivo. Analizar e integrar la bibliografía publicada sobre el tema tras la revisión sistemática realizada por Johnson y Lin en 2014. Sujetos y métodos. Se ha realizado una revisión sistemática en la que se han consultado tres bases de datos (Web of Science, PubMed y PsycInfo). Se han analizado 17 estudios empíricos revisados por pares, con participantes adultos con deterioro cognitivo leve, que incluyen al menos un grupo control y que evalúan parámetros de lenguaje. Se ha aplicado un protocolo de registro de elaboración propia para codificar las características y los resultados de los estudios, y se ha evaluado la calidad de los estudios y los artículos en los que se han publicado a través de una escala de elaboración propia basada en instrumentos validados previamente. Resultados. Los pacientes con deterioro cognitivo leve pueden presentar déficits en denominación, producción del discurso, comprensión oral y comprensión escrita. Conclusiones. Es importante evaluar el lenguaje en pacientes con deterioro cognitivo leve, aunque dicha exploración no permita establecer por sí sola un diagnóstico. No obstante, la variabilidad en la patología asociada al diagnóstico, la edad, el idioma y el nivel educativo de los participantes, así como al tamaño muestral, y los instrumentos utilizados para evaluar el lenguaje en los estudios revisados impiden que se puedan realizar afirmaciones concluyentes y hacen que sea necesario realizar más investigación sobre el tema.


Subject(s)
Cognitive Dysfunction/complications , Language Disorders/complications , Humans
8.
Respir Med Res ; 79: 100807, 2021 May.
Article in English | MEDLINE | ID: mdl-33321283

ABSTRACT

BACKGROUND: Pulmonary embolism (PE) is a potentially fatal disease related to venous thromboembolism. Information regarding this pathology in the Ecuadorian population is limited. This study aims to present the PE hospital mortality rates (HMR) in Ecuador, analyze its trend and risk factors. METHODS: An epidemiological, descriptive and cross-sectional study based on the reporting and trend analysis of pulmonary embolism HMR in the Ecuadorian population from 2011 to 2018 through the governmental database of the Ecuadorian National Statistics and Census Institute, was conducted. RESULTS: In Ecuador, PE hospital discharges (HD) varied from 358 in 2011 to 424 in 2018. More than 60% of patients were older than 60 years. Also, the frequency of PE with acute cor pulmonale increased from 3.07% in 2011 to 16.98% in 2018 (P<0.05). The HMR by 100 HD increased between 2011 (12.85/100 HD) and 2018 (17.02/100 HD) (P<0.05), with the highest rate reported in 2017 (21.52/100 HD). In the period studied, 505 in-hospital deaths were reported in patients with PE, the average age in this group was 64.3 years, 58.42% were female, and 10.89% had acute cor pulmonale (ICD-10 I26.0). Risk factors associated with PE in-hospital death were acute cor pulmonale (OR 1.63, 95% CI: 1.18 to 2.25, P<0.01) and 60 years or more (OR 1.73, 95% CI 1.40-2.15, P<0.01). CONCLUSION: A significant increase in PE HMR in Ecuador was found. Also, acute cor pulmonale and age of 60 years or more may be potential risk factors for in-hospital death in patients with PE.


Subject(s)
Pulmonary Embolism , Pulmonary Heart Disease , Cross-Sectional Studies , Ecuador/epidemiology , Female , Hospital Mortality , Humans , Middle Aged , Pulmonary Embolism/epidemiology , Pulmonary Heart Disease/epidemiology
9.
Sci Rep ; 10(1): 19735, 2020 11 12.
Article in English | MEDLINE | ID: mdl-33184412

ABSTRACT

We investigated the ability of football teams to develop a particular playing style by looking at their passing patterns. Using the information contained in the pass sequences during matches, we constructed the pitch passing networks of teams, whose nodes are the divisions of the pitch for a given spatial scale and links account for the number of passes from region to region. We translated football passings networks into their corresponding adjacency matrices. We calculated the correlations between matrices of the same team to quantify how consistent the passing patterns of a given team are. Next, we quantified the differences with other teams' matrices and obtained an identifiability parameter that indicates how unique are the passing patterns of a given team. Consistency and identifiability rankings were calculated during a whole season, allowing to detect those teams of a league whose passing patterns are different from the rest. Furthermore, we found differences between teams playing at home or away. Finally, we used the identifiability parameter to investigate what teams imposed their passing patterns over the rivals during a given match.

10.
Rev Neurol ; 71(4): 127-133, 2020 Aug 16.
Article in Spanish | MEDLINE | ID: mdl-32700308

ABSTRACT

INTRODUCTION: In most children with autism spectrum disorder (ASD), other difficulties that do not fall within the diagnostic criteria arose, and could have an impact on family quality of life. Previous research has shown several relationships among these variables and family quality of life, however results are contradictories. AIM: To examine the role of psychological adaptation (including emotional symptoms, behavioral problems, hyperactivity, problems with peers, and prosocial behavior) in children with ASD and typical development, and its impact on family quality of life. SUBJECTS AND METHODS: Twenty-four families of children with ASD (level 1 of support) and 25 families of children with typical development between 6 and 13 years old. We have considered diagnosis of Asperger syndrome (following DSM-IV-TR) with ASD-level 1 of support (following DSM-5). We have evaluated intelligence, vocabulary, adaptive behavior, and family quality of life. RESULTS: We have found significant differences in those variables related to psychological adaptation, and in some components of the family quality of life (family interaction, physical and emotional wellbeing). In our regression model, prosocial behaviors and the group were the main predictors of satisfaction on family quality of life. CONCLUSION: It is important to pay attention to the prosocial behaviors in ASD due to its potential protective effect.


TITLE: Conducta adaptativa en niños con trastorno del espectro autista y su efecto sobre la calidad de vida familiar.Introducción. En la mayoría de los niños con trastorno del espectro autista (TEA) aparecen dificultades asociadas que, aunque no se incluyen en los criterios diagnósticos, podrían tener impacto sobre la calidad de vida familiar. La bibliografía ha mostrado algunas relaciones entre estas variables y la calidad de vida familiar, aunque los resultados no son concluyentes. Objetivo. Examinar el papel de la conducta adaptativa (incluyendo síntomas emocionales, problemas de conducta, hiperactividad/falta de atención, problemas de relaciones entre compañeros y comportamiento prosocial) en niños con TEA y con desarrollo típico, y su posible impacto sobre la calidad de vida familiar. Sujetos y métodos. Veinticuatro familias de niños con TEA (nivel 1 de apoyo) y 25 familias de niños con desarrollo típico con edades comprendidas entre 6 y 13 años. Se ha igualado el síndrome de Asperger (según el DSM-IV-TR) con el TEA con nivel 1 de apoyo (según el DSM-5). Se han evaluado la inteligencia, el vocabulario, la conducta adaptativa y la calidad de vida familiar. Resultados. Se han encontrado diferencias significativas en las variables relacionadas con la conducta adaptativa y en algunos de los componentes de la calidad de vida familiar (interacción familiar, bienestar físico y emocional). En el modelo de regresión, presentar unos mejores niveles de conducta prosocial y el grupo aparecieron como los principales predictores de la satisfacción percibida en la calidad de vida familiar. Conclusión. Es importante atender a las dificultades en la conducta prosocial en el TEA, dado su potencial efecto protector sobre la calidad de vida familiar.


Subject(s)
Adaptation, Psychological , Autism Spectrum Disorder/psychology , Family , Quality of Life , Adolescent , Child , Female , Humans , Male
11.
Rev. patol. respir ; 22(4): 184-187, oct.-dic. 2019. ilus, tab
Article in Spanish | IBECS | ID: ibc-189010

ABSTRACT

Presentamos el caso de un varón de 19 años, sin antecedentes personales relevantes, que acude al Servicio de Urgencias por febrícula de dos semanas de evolución, astenia, palidez cutánea y en los últimos cuatro días picos febriles de hasta 39°C y epistaxis. Niega prácticas sexuales de riesgo, viajes recientes o contacto con personas o animales enfermos. La exploración física es anodina. En la analítica sanguínea presenta anemia y plaquetopenia, y en radiografía de tórax se objetiva ensanchamiento mediastínico. Ante la sospecha de un proceso neoplásico hematológico, ingresa para completar estudio. Se diagnostica de síndrome hemofagocítico mediante aspirado de médula ósea. La anatomía patológica definitiva de la masa mediastínica es teratoma inmaduro con malignidad somática asociada. Las neoplasias germinales con tumores malignos asociados de tipo somático son lesiones mediastínicas poco frecuentes, y entre sus manifestaciones se ha descrito el síndrome hemofagocítico. Dada la escasa incidencia de este síndrome, consideramos de interés su documentación en la literatura médica


We report a case of a 19-year-old man, with no history of interest, who came to the Emergency Department due to a fever of 2 weeks of evolution, asthenia, skin pallor and in the last 4 days febrile peaks up to 39°C and epistaxis. Denies risky sexual practices, recent trips or contact with sick people or animals. The physical examination is anodyne. Blood tests presents anemia and thrombocytopenia, and a chest radiograph shows mediastinal widening. Given the suspicion of a neoplastic hematological process, patient is admitted at the hospital to complete clinical studies. Hemophagocytic syndrome is diagnosed by bone marrow aspirate. The definitive pathological anatomy of the mediastinal mass is immature teratoma with associated somatic malignancy. Germinal neoplasms with associated malignant somatic tumors are rare mediastinal lesions, and the hemophagocytic syndrome has been described among their manifestations. As this syndrome has a low incidence, we consider its documentation in the medical literature of interest


Subject(s)
Humans , Male , Young Adult , Lymphohistiocytosis, Hemophagocytic/diagnostic imaging , Lymphohistiocytosis, Hemophagocytic/etiology , Teratoma/complications , Teratoma/diagnostic imaging , Tomography, X-Ray Computed
13.
BMC Plant Biol ; 19(1): 519, 2019 Nov 27.
Article in English | MEDLINE | ID: mdl-31775632

ABSTRACT

BACKGROUND: The structural reinforcement of cell walls by hydroxycinnamates has a significant role in defense against pests and pathogens, but it also interferes with forage digestibility and biofuel production. Elucidation of maize genetic variations that contribute to variation for stem hydroxycinnamate content could simplify breeding for cell wall strengthening by using markers linked to the most favorable genetic variants in marker-assisted selection or genomic selection approaches​. RESULTS: A genome-wide association study was conducted using a subset of 282 inbred lines from a maize diversity panel to identify single nucleotide polymorphisms (SNPs) associated with stem cell wall hydroxycinnamate content. A total of 5, 8, and 2 SNPs were identified as significantly associated to p-coumarate, ferulate, and total diferulate concentrations, respectively in the maize pith. Attending to particular diferulate isomers, 3, 6, 1 and 2 SNPs were related to 8-O-4 diferulate, 5-5 diferulate, 8-5 diferulate and 8-5 linear diferulate contents, respectively. This study has the advantage of being done with direct biochemical determinations instead of using estimates based on Near-infrared spectroscopy (NIRS) predictions. In addition, novel genomic regions involved in hydroxycinnamate content were found, such as those in bins 1.06 (for FA), 4.01 (for PCA and FA), 5.04 (for FA), 8.05 (for PCA), and 10.03 and 3.06 (for DFAT and some dimers). CONCLUSIONS: The effect of individual SNPs significantly associated with stem hydroxycinnamate content was low, explaining a low percentage of total phenotypic variability (7 to 10%). Nevertheless, we spotlighted new genomic regions associated with the accumulation of cell-wall-bound hydroxycinnamic acids in the maize stem, and genes involved in cell wall modulation in response to biotic and abiotic stresses have been proposed as candidate genes for those quantitative trait loci (QTL). In addition, we cannot rule out that uncharacterized genes linked to significant SNPs could be implicated in dimer formation and arobinoxylan feruloylation because genes involved in those processes have been poorly characterized. Overall, genomic selection considering markers distributed throughout the whole genome seems to be a more appropriate breeding strategy than marker-assisted selection focused in markers linked to QTL.


Subject(s)
Coumaric Acids/metabolism , Zea mays/genetics , Cell Wall/chemistry , Cell Wall/genetics , Coumaric Acids/chemistry , Genes, Plant , Genome-Wide Association Study , Plant Stems/chemistry , Plant Stems/genetics , Polymorphism, Single Nucleotide , Zea mays/chemistry
14.
Rev. patol. respir ; 22(3): 134-137, jul.-sept. 2019. ilus
Article in Spanish | IBECS | ID: ibc-189001

ABSTRACT

Presentamos a una mujer de 44 años, con cólicos renoureterales de repetición. Durante su estudio, se detectan niveles de hormona paratiroidea (PTH) y calcio elevados, y litiasis renal, siendo el principal diagnóstico hiperparatiroidismo primario. La gammagrafía con Tecnecio Sestamibi (99m Tc MIBI) sugiere la existencia de glándula paratiroides patológica en el mediastino. En la tomografía computarizada (TC) se objetiva un nódulo compatible con adenoma paratiroideo. Se procedió a su resección mediante videomediastinoscopia. Las glándulas paratiroideas ectópicas se atribuyen a la migración anormal durante la embriógenesis; ocurren en un 15-20% de pacientes con hiperparatiroidismo. El hiperparatiroidismo debido a la actividad de estas glándulas ectópicas es infrecuente (entre el 1-8% de pacientes sometidos a cirugía de glándulas paratiroides). Su resección está indicada si existe hiperfunción glandular o complicaciones por hipercalcemia. Dada la escasa incidencia de esta patología, consideramos de interés su divulgación en la literatura médica


We present a 44-year-old woman with no history of interest, who presented recurrent renourelate colic. Elevated parathyroid hormone (PTH) and calcium levels were detected, as well as renal lithiasis. The main diagnosis was primary hyperparathyroidism. The scintigraphy with Technetium (99m Tc MIBI) Sestamibi suggested the existence of a pathological parathyroid gland in the mediastinum. A computed tomography (CT) scan revealed a nodule compatible with a parathyroid adenoma. We proceeded with its resection by videomediastinoscopy. The ectopic parathyroid glands are attributed to abnormal migration during embryogenesis; they occur in 15-20% of patients with hyperparathyroidism. Hyperparathyroidism caused by ectopic glands is infrequent (between 1-8% of patients undergoing surgery for parathyroid glands). Its resection is indicated if there is glandular hyperfunction or complications due to hypercalcemia. Given the low incidence of this pathology, we consider its report in the medical literature to be of interest


Subject(s)
Humans , Female , Adult , Thyroid Neoplasms/surgery , Video-Assisted Surgery/methods , Treatment Outcome , Tomography, X-Ray Computed , Thyroid Neoplasms/diagnostic imaging , Adenoma/diagnostic imaging
15.
Rev. patol. respir ; 22(2): 69-71, abr.-jun. 2019.
Article in Spanish | IBECS | ID: ibc-185772

ABSTRACT

El tumor fibroso solitario (TFS) de pleura es una neoplasia poco frecuente. Presenta características benignas y escasa tendencia a la recidiva, sin embargo, puede tener un comportamiento maligno. El tratamiento de elección es la resección quirúrgica completa para lo cual debe asegurarse un margen de tejido sano adyacente. Se trata de una mujer de 51 años, asintomática desde el punto de vista respiratorio y sin otra clínica de interés, que durante el estudio preoperatorio de un nódulo tiroideo presenta, como hallazgo radiológico casual, un TFS que es manejado mediante resección completa por cirugía toracoscópica videoasistida (VATS)


The solitary fibrous tumor of the pleura is a rare neoplasm. It has benign features and low tendency to recur, however, it can have a malignant behavior. The treatment of choice is complete surgical resection, so that, a margin of adjacent healthy tissue should be ensured. A 51-year-old woman, asymptomatic and without another clinical interest, present during the preoperative study of a thyroid nodule, as a casual radiological finding, a SFT, that is managed by complete resection by video-assisted thoracoscopic surgery (VATS)


Subject(s)
Humans , Female , Middle Aged , Solitary Fibrous Tumor, Pleural/diagnostic imaging , Solitary Fibrous Tumor, Pleural/surgery , Tomography, X-Ray Computed , Thoracic Surgery, Video-Assisted , Treatment Outcome
16.
Rev. ecuat. neurol ; 27(1): 56-61, sep.-dic. 2018. tab, graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1004010

ABSTRACT

Resumen Objetivo: Evaluar la utilidad del V-EEG en el diagnóstico diferencial de la epilepsia en un hospital pediátrico de nivel terciario durante el año 2015 Materiales y Métodos: Se realizó un estudio descriptivo sobre 90 pacientes evaluados en esta unidad durante el año 2015. Se recogieron datos de variables relacionadas con la indicación y los resultados del V-EEG, los cuales fueron analizados usando medidas de estadística descriptiva. Resultados: El 53,3% de los pacientes fueron masculinos. El promedio de edad es de 7,7 años con una desviación estándar de 4,7 años. El tiempo que transcurre desde la primera crisis hasta que el paciente acude a realizarse el V-EEG presenta una media de 4,3 años. 72 pacientes (80%) presentaron crisis epilépticas, 12 pacientes (13,3%) presentaron trastornos paroxísticos no epilépticos, mientras 6 niños (6,7%) no presentaron crisis durante el monitoreo. En el 93,3% de los casos el estudio fue exitoso. Conclusiones: Se demuestra la utilidad del monitoreo V-EEG para el diagnóstico diferencial de epilepsia.


Summary Objective: The aim was to evaluate the V-EEG usefulness in the differential diagnosis of epilepsy in a Third Level Children's Hospital during 2015. Materials and Methods: A descriptive study was performed over 90 patients in this unit during 2015. The data was obtained from variables related to indications and results of V-EEG, which were analyzed using descriptive statistics. Results: Fifty three percent of the patients were male. The mean age was 7.7 years (SD ± 4.7 years). The time measured between the first seizure and the V-EEG recording was 4,3 years. Seventy two patients (80%) had epileptic seizures, 12 patients (13,3%) had nonepileptic seizures, while six children (6.7%) had no seizures during the V-EEG monitoring. Ninety three percent of all recordings were successful. Conclusions: It was demonstrated the usefulness of V-EEG monitoring for the differential diagnosis of epilepsy.

17.
Rev. ecuat. neurol ; 27(2): 31-38, may.-ago. 2018. tab, graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1004020

ABSTRACT

RESUMEN Introducción: La epilepsia es una de las patologías neurológicas crónicas más frecuentes, con una incidencia de 50/100.000/año y una prevalencia entre 0,5 y 2% a nivel mundial. Un tercio de estos pacientes son resistentes al tratamiento con fármacos antiepilépticos, lo que se conoce como epilepsia refractaria. La mayoría de estos pacientes sufren de epilepsias focales secundarias a lesiones epileptogénicas evidenciadas cada vez más frecuentemente en correlación directa con las nuevas técnicas de neuroimagen cerebral. La cirugía de la epilepsia es el único tratamiento que podría curar la epilepsia de los pacientes con epilepsia refractaria. El objetivo de la cirugía de la epilepsia es remover la zona epileptogénica con preservación de las áreas elocuentes, y aquí la experiencia quirúrgica y la tecnología de neuroimagen juegan un papel capital. Objetivos: Demostrar la utilidad de la neuronavegación en la planificación prequirúrgica y en la cirugía de la epilepsia refractaria. Método: Estudio descriptivo transversal y analítico, en base a 47 cirugías realizadas (12 resectivas, 32 paliativas y 3 diagnósticas) en pacientes con epilepsia refractaria y edad media de 9,93 años (SD 4,1). En 27 pacientes (57.44%) se utilizó el neuronavegador. En el grupo de pacientes operados con neuronavegación disminuyó el tiempo quirúrgico en 47.17 minutos (p = 0,022), la cantidad de hemorragia en 111.41 mililitros (p = 0,011) y los días de hospitalización en 6.68 días (p = 0,005), en comparación con el grupo intervenido sin neuronavegación. Las complicaciones en el grupo con neuronavegación fueron del 29,63% en comparación con 65% en el grupo intervenido sin neuronavegación (p = 0,034). Conclusiones: En nuestra serie, el uso del neuronavegador en la planificación y desarrollo de la cirugía tuvo un impacto significativo al reducir la cantidad de hemorragia perdida, el tiempo quirúrgico, los días de hospitalización, y las complicaciones postquirúrgicas.


Abstract Introduction: Epilepsy is one of the more frequent neurologic disorders, with an incidence of 50/100,000/year and prevalence between 0.5 and 2% worldwide. A third of these patients suffer focal epilepsy due to epileptogenic lesions evident by Neuroimaging new techniques. Epilepsy surgery is the only treatment that can cure refractory epilepsy. Its goal is to remove the epileptogenic lesion with preservation of eloquent areas, and in this case both surgical experience and neuroimaging technology play a pivotal role. Objective: To demonstrate utility of neuronavigation in presurgical planning and surgery of refractory epilepsy. Method: Descriptive, cross sectional and analytic study of 47 performed surgeries (12 resective, 12 palliative and 3 diagnostic) in patients with refractory epilepsy with an average age of 9.93 years (SD 4.1). In 27 patients (57.44%) neuronavigation was used. In patients operated with assistance of neuronavigation, surgical time diminished in 47.17 minutes (p=0.022), hemorrhage in 111.41 ml (p=0.011) and days of hospitalization in 6.68 days (p=0.005) comparing with group without neuronavigation. Complications in the group with neuronavigation were 29.63% compared with 65% in the group without it. (P=0,034). Conclusions: In this study, using neuronavigation in planning and performing surgery in reducing the amount of blood loss, surgical time, days of hospitalization and post surgical complications.

18.
BMC Genomics ; 19(1): 125, 2018 02 07.
Article in English | MEDLINE | ID: mdl-29415652

ABSTRACT

BACKGROUND: Zucchini fruit is susceptible to chilling injury (CI), but the response to low storage temperature is cultivar dependent. Previous reports about the response of zucchini fruit to chilling storage have been focused on the physiology and biochemistry of this process, with little information about the molecular mechanisms underlying it. In this work, we present a comprehensive analysis of transcriptomic changes that take place after cold storage in zucchini fruit of two commercial cultivars with contrasting response to chilling stress. RESULTS: RNA-Seq analysis was conducted in exocarp of fruit at harvest and after 14 days of storage at 4 and 20 °C. Differential expressed genes (DEGs) were obtained comparing fruit stored at 4 °C with their control at 20 °C, and then specific and common up and down-regulated DEGs of each cultivar were identified. Functional analysis of these DEGs identified similarities between the response of zucchini fruit to low temperature and other stresses, with an important number of GO terms related to biotic and abiotic stresses overrepresented in both cultivars. This study also revealed several molecular mechanisms that could be related to chilling tolerance, since they were up-regulated in cv. Natura (CI tolerant) or down-regulated in cv. Sinatra (CI sensitive). These mechanisms were mainly those related to carbohydrate and energy metabolism, transcription, signal transduction, and protein transport and degradation. Among DEGs belonging to these pathways, we selected candidate genes that could regulate or promote chilling tolerance in zucchini fruit including the transcription factors MYB76-like, ZAT10-like, DELLA protein GAIP, and AP2/ERF domain-containing protein. CONCLUSIONS: This study provides a broader understanding of the important mechanisms and processes related to coping with low temperature stress in zucchini fruit and allowed the identification of some candidate genes that may be involved in the acquisition of chilling tolerance in this crop. These genes will be the basis of future studies aimed to identify markers involved in cold tolerance and aid in zucchini breeding programs.


Subject(s)
Cold Temperature , Cucurbita/genetics , Fruit/genetics , Preservation, Biological , Transcriptome , Adaptation, Physiological , Computational Biology/methods , Cucurbita/metabolism , Energy Metabolism , Gene Expression Profiling , Gene Expression Regulation, Plant , Gene Ontology , Molecular Sequence Annotation , Preservation, Biological/methods
19.
Radiat Prot Dosimetry ; 180(1-4): 382-385, 2018 Aug 01.
Article in English | MEDLINE | ID: mdl-29036700

ABSTRACT

A new proposed design of neutron shielding material-based on the commercial material Borotron UH050 with an addition of Al(OH)3-is evaluated in order to determine if its neutron and gamma shielding properties match those of a reference material, NS4FR. Neutron and gamma dosimetry measurements are performed, as well as neutron spectrometry measurements and Monte Carlo simulations. Negligible differences are found between the materials for neutron shielding, while significant differences are found for gamma shielding. The effect of Al(OH)3 addition to Borotron UH050 is to reduce neutron shielding properties while increasing gamma shielding properties. The resulting material is as efficient as NS4FR for neutron shielding but less efficient for gamma shielding-thicknesses 20% higher are required to match gamma shielding properties of NS4FR. Monte Carlo models of the materials are validated based on the performed measurements of neutron spectra and neutron and gamma ambient dose equivalent.


Subject(s)
Gamma Rays , Neutrons , Particle Accelerators/instrumentation , Protective Devices , Radiation Protection/instrumentation , Radiometry/methods , Computer Simulation , Humans , Monte Carlo Method , Radiation Dosage , Radiation Protection/methods , Radiometry/instrumentation
20.
Rev. patol. respir ; 20(4): 141-143, oct.-dic. 2017. ilus
Article in Spanish | IBECS | ID: ibc-172302

ABSTRACT

Presentamos el caso de un varón de 38 años, de origen asiático, sin antecedentes de interés, que acude a Urgencias por fiebre de origen desconocido de dos meses de evolución, asociada en los últimos días a cefalea frontal y mucosidad verdosa (compatible con sinusitis), sin mejoría con tratamiento antibiótico. En el electrocardiograma presentó alteraciones. En la tomografía computarizada (TC) se objetivaron múltiples opacidades nodulares bilaterales de predominio en lóbulos superiores y masa interauricular de aspecto infiltrativo. Se realizó una biopsia pulmonar por videotoracoscopia, siendo el diagnóstico histopatológico definitivo de linfoma no Hodgkin de células T/NK extraganglionar. Este tipo de tumores representa el 1% de todos los linfomas no Hodgkin, con mayor prevalencia en Asia y América del Sur, y sólo el 20% de los casos afecta a localizaciones extranasales. Dada la escasa incidencia de estos pacientes, consideramos de interés que sean reportados estos casos en la literatura médica (AU)


We report the case of a 38-years-old Asian man, with no history of interest, who comes to the Emergency Department for a fever of unknown origin of two months of evolution, associated in the last days with headache and greenish mucus (compatible with sinusitis), without improvement with antibiotic treatment. The electrocardiogram shows alterations. In CT, multiple bilateral nodular opacities of predominance in upper lobes and infiltrative aspect interatrial mass were observed. A pulmonary biopsy was performed by videothoracoscopy, being the definitive histopathological diagnosis non-Hodgkin’s lymphoma of extraganglion T/NK cells. This type of tumors represents 1% of all non-Hodgkin’s lymphomas, with a higher prevalence in Asia and South America, and only 20% of the cases affect extranodal sites. Given the low incidence of these patients, reports of the cases reported these cases in the medical literature (AU)


Subject(s)
Humans , Male , Adult , Lymphoma, Extranodal NK-T-Cell , Frontal Sinusitis , Maxillary Sinusitis , Lung Neoplasms , Multiple Pulmonary Nodules , Electrocardiography/methods , Lymphoma, Follicular , Epstein-Barr Virus Infections , Nose Neoplasms
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