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1.
J Clin Med ; 13(15)2024 Aug 05.
Artículo en Inglés | MEDLINE | ID: mdl-39124828

RESUMEN

Background: The Cobb angle is critical in assessing adolescent idiopathic scoliosis (AIS) patients. This study aimed to evaluate the error in selecting the upper- and lower-end vertebrae on AIS digital X-rays by experienced and novice observers and its correlation with the error in measuring the Cobb angle and determining the length of the scoliotic curves. Methods: Using the TraumaMeter v.873 software, eight raters independently evaluated 68 scoliotic curves. Results: The error percentage in the upper-end vertebra selection was higher than for the lower-end vertebra (44.7%, CI95% 41.05-48.3 compared to 35%, CI95% 29.7-40.4). The mean bias error (MBE) was 0.45 (CI95% 0.38-0.52) for the upper-end vertebra and 0.35 (CI% 0.69-0.91) for the lower-end vertebra. The percentage of errors in the choice of the end vertebrae was lower for the experienced than for the novices. There was a positive correlation (r = 0.673, p = 0.000) between the error in selecting the end vertebrae and determining the length of the scoliotic curves. Conclusions: We can conclude that errors in selecting end vertebrae are common among experienced and novice observers, with a greater error frequency for the upper-end vertebrae. Contrary to the consensus, the accuracy of determining the length of the scoliotic curve is limited by the Cobb method's reliance on the correct selection of the end vertebrae.

2.
J Eur Acad Dermatol Venereol ; 37(2): 317-327, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36251407

RESUMEN

BACKGROUND: Haemosiderotic and aneurysmal dermatofibromas are uncommon and frequently misdiagnosed lesions, which can be considered as different histopathological stages of the same tumour. A dermoscopic diagnosis testing accuracy has not been performed for these tumours to date. OBJECTIVES: To determine the diagnostic significance of dermoscopic structures and patterns associated with haemosiderotic/ aneurysmal dermatofibromas in a large series. METHODS: Dermoscopic images of histopathologically proven cases of 110 haemosiderotic/ aneurysmal dermatofibromas and 501 other tumours were collected. The frequency, sensitivity, specificity, positive predictive value and negative predictive value of the dermoscopic structures and patterns associated with these lesions were calculated. RESULTS: Haemosiderotic/ aneurysmal dermatofibromas are mostly symmetric lesions (86.5%), and a prominent homogeneous area was present in 100% of them. The presence of vascular structures was very common (86.4%), and dotted vessels were predominant (58.2%). Shiny white structures were seen in 85.5% of lesions, while a peripheral delicate pigment network was present in 69.1%. The most significant pattern was the one composed of a prominent homogeneous area and peripheral delicate pigment network, which showed a specificity of 100% with a relatively good sensitivity (69.1%). All the patterns containing a peripheral delicate pigment network showed very good specificities, positive predictive values and negative predictive values. Those patterns without a peripheral delicate pigment network showed the highest sensitivities, but they showed a significant overlap with other tumours, mainly with melanoma. CONCLUSIONS: Dermoscopy is helpful in improving the diagnostic accuracy of haemosiderotic/ aneurysmal dermatofibromas. However, there is a considerable dermoscopic overlap between these tumours and melanoma, specifically when the peripheral delicate pigment network is absent.


Asunto(s)
Histiocitoma Fibroso Benigno , Melanoma , Neoplasias Cutáneas , Humanos , Neoplasias Cutáneas/patología , Histiocitoma Fibroso Benigno/diagnóstico por imagen , Histiocitoma Fibroso Benigno/patología , Dermoscopía , Melanoma/diagnóstico por imagen , Valor Predictivo de las Pruebas
3.
Artículo en Inglés | MEDLINE | ID: mdl-35457522

RESUMEN

The Cobb angle value is a critical parameter for evaluating adolescent idiopathic scoliosis (AIS) patients. This study aimed to evaluate a software's validity and absolute reliability to determine the Cobb angle in AIS digital X-rays, with two different degrees of experienced observers. Four experts and four novice evaluators measured 35 scoliotic curves with the software on three separate occasions, one month apart. The observers re-measured the same radiographic studies on three separate occasions three months later but on conventional X-ray films. The differences between the mean bias errors (MBE) within the experience groups were statistically significant between the experts (software) and novices (manual) (p < 0.001) and between the novices (software) and novices (manual) (p = 0.005). When measured with the software, the intra-group error in the expert group was MBE = 1.71 ± 0.61° and the intraclass correlation coefficient (ICC (2,1)) = 0.986, and in the novice group, MBE = 1.9 ± 0.67° and ICC (2,1) = 0.97. There was almost a perfect concordance among the two measurement methods, ICC (2,1) = 0.998 and minimum detectable change (MCD95) < 0.4°. Control of the intrinsic error sources enabled obtaining inter- and intra-observer MDC95 < 0.5° in the two experience groups and with the two measurement methods. The computer-aided software TraumaMeter increases the validity and reliability of Cobb angle measurements concerning manual measurement.


Asunto(s)
Escoliosis , Adolescente , Humanos , Radiografía , Reproducibilidad de los Resultados , Proyectos de Investigación , Escoliosis/diagnóstico por imagen , Programas Informáticos , Columna Vertebral
4.
Quant Imaging Med Surg ; 12(3): 1706-1715, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35284293

RESUMEN

Background: Axial vertebral rotation and Cobb's angle are essential parameters for analysing adolescent idiopathic scoliosis. This study's scope evaluates the validity and absolute reliability of application software based on a new mathematical equation to determine the axial vertebral rotation in digital X-rays according to Raimondi's method in evaluators with different degrees of experience. Methods: Twelve independent evaluators with different experience levels measured 33 scoliotic curves in 21 X-rays with the software on three separate occasions, separated one month. Using the same methodology, the observers re-measured the same radiographic studies three months later but on X-ray films and in a conventional way. Results: Both methods show good validity and reliability, and the intraclass correlation coefficients are almost perfect. According to our results, the software increases 1.7 times the validity and 1.9 times the absolute reliability of axial vertebral rotation on digital X-rays according to Raimondi's method, compared to the conventional manual measurement. Conclusions: The intra-group and inter-group agreement of the measurements with the software shows equal or minor variations than with the manual method, among the different measurement sessions and in the three experience groups. There is almost perfect agreement between the two measurement methods, so the equation and the software may be helpful to increase the accuracy in the axial vertebral rotation assessment.

5.
Dermatology ; 238(1): 132-139, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-33789291

RESUMEN

BACKGROUND: Preoperative diagnosis of malignant collision tumors (MCT) is extremely difficult. The value of dermoscopy to improve the correct detection of these tumors has not been previously studied. This study aims to evaluate the diagnostic accuracy of MCT with and without dermoscopy and to describe the dermoscopic features of a large series of MCT. METHODS: Dermoscopic images of 161 MCT were evaluated. Clinical and dermoscopic images of histopathologically proven MCT intermingled with other tumors were randomly presented to clinicians with different levels of experience, blinded to the diagnosis and objective of the study. The clinical and dermoscopic diagnostic accuracies were measured separately. RESULTS: A total of 161 histopathologically proven cases of MCT were collected. The most frequent MCT was basal cell carcinoma-seborrheic keratosis collision tumor (CT; 37.9%), followed by basal cell carcinoma-melanocytic nevus CT (19.9%), and melanoma-seborrheic keratosis CT (6.8%). Diagnostic accuracy among experts on dermoscopy was 71.4%. The study included 119 participants. The percentage of correct diagnoses was 8% by naked eye examination and 36.4% by dermoscopy (p < 0.001). The presence of the malignant component in the cases of MCT was not recognizable in 19.1% of cases by naked eye examination and in 11.8% of cases by dermoscopy (p < 0.001). CONCLUSIONS: The diagnosis of MCT can be assisted and clarified by dermoscopy. However, many of these lesions manifest complex morphologies and continue to be challenging, even for experts on dermoscopy. Atypical, uncertain, or non-classifiable lesions still need a complete excision for the final diagnosis.


Asunto(s)
Carcinoma Basocelular/diagnóstico , Dermoscopía , Queratosis Seborreica/diagnóstico , Melanoma/diagnóstico , Nevo Pigmentado/diagnóstico , Neoplasias Cutáneas/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Examen Físico , Sensibilidad y Especificidad , Adulto Joven
6.
PeerJ Comput Sci ; 7: e371, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34150994

RESUMEN

Skin lesions are one of the typical symptoms of many diseases in humans and indicative of many types of cancer worldwide. Increased risks caused by the effects of climate change and a high cost of treatment, highlight the importance of skin cancer prevention efforts like this. The methods used to detect these diseases vary from a visual inspection performed by dermatologists to computational methods, and the latter has widely used automatic image classification applying Convolutional Neural Networks (CNNs) in medical image analysis in the last few years. This article presents an approach that uses CNNs with a NASNet architecture to recognize in a more accurate way, without segmentation, eight skin diseases. The model was trained end-to-end on Keras with augmented skin diseases images from the International Skin Imaging Collaboration (ISIC). The CNN architectures were initialized with weight from ImageNet, fine-tuned in order to discriminate well among the different types of skin lesions, and then 10-fold cross-validation was applied. Finally, some evaluation metrics are calculated as accuracy, sensitivity, and specificity and compare with other CNN trained architectures. This comparison shows that the proposed system offers higher accuracy results, with a significant reduction on the training paraments. To the best of our knowledge and based in the state-of-art recompiling in this work, the application of the NASNet architecture training with skin image lesion from ISIC archive for multi-class classification and evaluated by cross-validation, represents a novel skin disease classification system.

7.
Radiol Res Pract ; 2021: 5523775, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33628503

RESUMEN

INTRODUCTION: Axial vertebral rotation (AVR) is a basic parameter in the study of idiopathic scoliosis and on physical two-dimensional images. Raimondi's tables are the most used method in the quantification of AVR. The development of computing technologies has enabled the creation of computer-aided or automated diagnosis systems (CADx) with which measurement on medical images can be carried out more quickly, simply, and with less intra and interobserver variabilities than manual methods. Although there are several publications dealing with the measurement of AVR in CADx systems, none of them provides information on the equation or algorithm used for the measurement applying Raimondi's method. Goal. The aim of this work is to perform a mathematical modelling of the data contained in Raimondi's tables that enable the Raimondi method to be used in digital medical images more precisely and in a more exact manner. METHODS: Data from Raimondi's tables were tabulated on a first step. After this, each column of Raimondi's tables containing values corresponding to vertebral body width (D) were adjusted to a curve determined by AVR = f (d). Third, representative values of each rotation divided by D were obtained through the equation of each column D. In a fourth step, a regression line was fitted to the data in each row, and from its equation, the mean value of the D/d distribution is calculated (value corresponding to the central column, D = 45). Finally, a curve was adjusted to the obtained data using the least squares method. Summary and Conclusion. Our mathematical equation allows the Raimondi method to be used in digital images of any format in a more accurate and simplified approach. This equation can be easily and freely implemented in any CADx system to quantify AVR, providing a more precise use of Raimondi's method, as well as being used in traditional manual measurement as it is performed with Raimondi tables.

8.
Rev. Fac. Odontol. (UNNE) ; 14(1): 30-35, 2021. ilus
Artículo en Español | UNISALUD, BINACIS | ID: biblio-1359877

RESUMEN

Los quistes dermoides verdaderos son entidades congénitas raras con predilección por las áreas periorbitarias, piso de boca y submentonianas. En la región de cabeza y cuello la frecuencia es baja (menos de 2%). El quiste se presenta como una masa blanda, indolora y desplazable. La mayoría son pequeños, pero algunos superan los 12 cm. Por lo general, son asintomáticos a menos que se agranden sustancialmente, causando dolor o dificultades funcionales. La enucleación completa es el tratamiento de elección. El objetivo de este trabajo fue presentar el caso clínico de un paciente femenino de 52 años de edad con aumento de volumen en región cervical de lado izquierdo, con una evolución de dos años. Fue tratado mediante enucleación, con un abordaje extraoral submandibular tipo Risdon y presentó una evolución favorable


Asunto(s)
Cirugía Bucal , Cuello del Diente , Quiste Dermoide
9.
Artículo en Inglés | MEDLINE | ID: mdl-32283720

RESUMEN

To explore sagittal spinal alignment and pelvic disposition of schoolchildren in a slump sitting position is needed in order to establish preventive educational postural programs. The purposes of this study were to describe sagittal spinal alignment and pelvic tilt (LSA) in a slump sitting position and to explore the association of sagittal spine and pelvic tilt with back pain (BP) among 8-12-year-old children. It was a cross-sectional study. Sagittal spinal curvatures, BP and pelvic tilt were assessed in 582 students from 14 elementary schools. It was found that 53.44% of children had slight thoracic hyperkyphosis and that 48.80% presented moderate lumbar hyperkyphosis and 38.66% presented slight lumbar hyperkyphosis. Those who did not suffer from BP in any part of the back had a higher lumbar kyphosis (24.64 ± 7.84) or a greater LSA (107.27 ± 5.38) than children who had some type of BP in the previous year or week (lumbar kyphosis: 23.08 ± 8.06; LSA: 105.52 ± 6.00), although with no clinically relevant differences. In fact, neither sufferers nor those who did not have BP presented normal mean values for lumbar kyphosis or LSA according to normality references. This study demonstrates the need to assess sagittal morphotype in childhood since schoolchildren remain incorrectly seated for many hours and it greatly affects their spinal curvatures.


Asunto(s)
Sedestación , Curvaturas de la Columna Vertebral , Dolor de Espalda , Niño , Estudios Transversales , Femenino , Humanos , Vértebras Lumbares , Masculino , Postura , España , Curvaturas de la Columna Vertebral/etiología , Columna Vertebral
10.
Sensors (Basel) ; 20(7)2020 Mar 30.
Artículo en Inglés | MEDLINE | ID: mdl-32235663

RESUMEN

In a cellular network, signaling and data messages exchanged between network elements are an extremely valuable information for network optimization. The consideration of different types of information allows to improve the optimization results. However, the huge amount of information has made it very difficult for operators to process all the available information. To cope with this issue, in this paper, a methodology for processing cell and user connection traces to optimize a live cellular network is presented. The aim is to generate new performance indicators different from those supplied by manufacturers, taking advantage of the ability of complex event processing tools to correlate events of different nature. For illustrative purposes, an example of how a new performance indicator is created from real traces by complex event processing is given.

11.
Australas J Dermatol ; 60(2): e127-e131, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30478949

RESUMEN

BACKGROUND/OBJECTIVES: The aim of this study was to evaluate the morphological findings of lipidised dermatofibromas under dermoscopic observation. METHODS: Dermoscopic examination of 13 cases of lipidised dermatofibromas was performed to evaluate specific dermoscopic criteria and patterns. RESULTS: The most frequently occurring dermoscopic features were as follows: (i) A yellowish homogenous pigmentation in all cases (100%); this pigmentation was total in 30.7%; (ii) White structures were seen in 46.1%, most of them were central white networks (38.4%); (iii) Pigment network was observed in 53.8%, most of them were peripheral delicate pigment networks (38.4%), but two cases showed an atypical pigment network; (iv) The presence of vascular structures was common (10 cases, 77%); (v) Regarding to dermoscopic patterns, five lipidised dermatofibromas (38.4%) showed a total yellowish homogeneous pattern; 38.4% an atypical pattern and 23.2% a 'central white network + peripheral delicate pigment network' pattern. CONCLUSIONS: The dermoscopic recognition of a total yellowish homogeneous area or a yellowish colouration in the context of a dermatofibroma can be proposed to help suspecting a lipidised dermatofibroma.


Asunto(s)
Dermoscopía , Histiocitoma Fibroso Benigno/patología , Neoplasias Cutáneas/patología , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad
12.
Cancer Immunol Res ; 6(3): 267-275, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29362221

RESUMEN

The chemokine axis CCR6/CCL20 is involved in cancer progression in a variety of tumors. Here, we show that CCR6 is expressed by melanoma cells. The CCR6 ligand, CCL20, induces migration and proliferation in vitro, and enhances tumor growth and metastasis in vivo Confocal analysis of melanoma tissues showed that CCR6 is expressed by tumor cells, whereas CCL20 is preferentially expressed by nontumoral cells in the stroma of certain tumors. Stromal CCL20, but not tumoral CCR6, predicted poor survival in a cohort of 40 primary melanoma patients. Tumor-associated macrophages (TAM), independently of their M1/M2 polarization profile, were identified as the main source of CCL20 in primary melanomas that developed metastasis. In addition to CCL20, TAMs expressed TNF and VEGF-A protumoral cytokines, suggesting that melanoma progression is supported by macrophages with a differential activation state. Our data highlight the synergistic interaction between melanoma tumor cells and prometastatic macrophages through a CCR6/CCL20 paracrine loop. Stromal levels of CCL20 in primary melanomas may be a clinically useful marker for assessing patient risk, making treatment decisions, and planning or analyzing clinical trials. Cancer Immunol Res; 6(3); 267-75. ©2018 AACR.


Asunto(s)
Quimiocina CCL20/inmunología , Macrófagos/inmunología , Melanoma/inmunología , Neoplasias Cutáneas/inmunología , Animales , Movimiento Celular , Proliferación Celular , Células Cultivadas , Quimiocina CCL20/genética , Progresión de la Enfermedad , Humanos , Melanoma/patología , Ratones , Neoplasias Cutáneas/patología , Melanoma Cutáneo Maligno
13.
JMIR Res Protoc ; 6(1): e8, 2017 Jan 24.
Artículo en Inglés | MEDLINE | ID: mdl-28119279

RESUMEN

BACKGROUND: Neuroplasticity-based approaches seem to offer promising ways of maintaining cognitive health in older adults and postponing the onset of cognitive decline symptoms. Although previous research suggests that training can produce transfer effects, this study was designed to overcome some limitations of previous studies by incorporating an active control group and the assessment of training expectations. OBJECTIVE: The main objectives of this study are (1) to evaluate the effects of a randomized computer-based intervention consisting of training older adults with nonaction video games on brain and cognitive functions that decline with age, including attention and spatial working memory, using behavioral measures and electrophysiological recordings (event-related potentials [ERPs]) just after training and after a 6-month no-contact period; (2) to explore whether motivation, engagement, or expectations might account for possible training-related improvements; and (3) to examine whether inflammatory mechanisms assessed with noninvasive measurement of C-reactive protein in saliva impair cognitive training-induced effects. A better understanding of these mechanisms could elucidate pathways that could be targeted in the future by either behavioral or neuropsychological interventions. METHODS: A single-blinded randomized controlled trial with an experimental group and an active control group, pretest, posttest, and 6-month follow-up repeated measures design is used in this study. A total of 75 cognitively healthy older adults were randomly distributed into experimental and active control groups. Participants in the experimental group received 16 1-hour training sessions with cognitive nonaction video games selected from Lumosity, a commercial brain training package. The active control group received the same number of training sessions with The Sims and SimCity, a simulation strategy game. RESULTS: We have recruited participants, have conducted the training protocol and pretest assessments, and are currently conducting posttest evaluations. The study will conclude in the first semester of 2017. Data analysis will take place during 2017. The primary outcome is transfer of benefit from training to attention and working memory functions and the neural mechanisms underlying possible cognitive improvements. CONCLUSIONS: We expect that mental stimulation with video games will improve attention and memory both at the behavioral level and in ERP components promoting brain and mental health and extending independence among elderly people by avoiding the negative personal and economic consequences of long-term care. TRIAL REGISTRATION: Clinicaltrials.gov NCT02796508; https://clinicaltrials.gov/ct2/show/NCT02796508 (archived by WebCite at http://www.webcitation.org/6nFeKeFNB).

14.
J Environ Manage ; 202(Pt 3): 550-561, 2017 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-27424883

RESUMEN

Historical and traditional flood-irrigated (FI) schemes are progressively being upgraded by means of drip irrigation (DI) to tackle current water and demographic challenges. This modernization process is likely to foster several changes of environmental relevance at the system level. In this paper we assess the effects derived from DI uptake on soil health and structure in ancient FI systems through the case study of Ricote, SE Spain, first established in the 10-13th centuries CE. We approach the topic by means of physico-chemical analyses (pH, electrical conductivity, available P, carbon analyses, bulk density, soil water content and particle size distribution), Electrical Resistivity Measurements (ERT) and robust statistics. We reach a power of 1-ß = 77 aiming at detecting a large effect size (f ≥ 0.4). Results indicate that, compared to FI, DI soils present significantly higher water content, a higher proportion of coarse particles relative to fines due to clay translocation, and less dispersion in salt contents. The soils away from the emitters, which were formerly FI and comparatively account for larger extensions, appear significantly depleted in organic matter, available P and N. These results are not affected by departures from statistical model assumptions and suggest that DI uptake in formerly FI systems might have relevant implications in terms of soil degradation and emission of greenhouse gases. A proper assessment of the edaphological trade-offs derived from this modernization process is mandatory in order to tackle undesired environmental consequences.


Asunto(s)
Riego Agrícola , Monitoreo del Ambiente , Contaminantes del Suelo , Agricultura , Suelo , España , Agua
15.
Ergonomics ; 59(2): 207-21, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26230967

RESUMEN

Artificial neural networks are sophisticated modelling and prediction tools capable of extracting complex, non-linear relationships between predictor (input) and predicted (output) variables. This study explores this capacity by modelling non-linearities in the hardiness-modulated burnout process with a neural network. Specifically, two multi-layer feed-forward artificial neural networks are concatenated in an attempt to model the composite non-linear burnout process. Sensitivity analysis, a Monte Carlo-based global simulation technique, is then utilised to examine the first-order effects of the predictor variables on the burnout sub-dimensions and consequences. Results show that (1) this concatenated artificial neural network approach is feasible to model the burnout process, (2) sensitivity analysis is a prolific method to study the relative importance of predictor variables and (3) the relationships among variables involved in the development of burnout and its consequences are to different degrees non-linear. PRACTITIONER SUMMARY: Many relationships among variables (e.g., stressors and strains) are not linear, yet researchers use linear methods such as Pearson correlation or linear regression to analyse these relationships. Artificial neural network analysis is an innovative method to analyse non-linear relationships and in combination with sensitivity analysis superior to linear methods.


Asunto(s)
Agotamiento Profesional/psicología , Modelos Teóricos , Redes Neurales de la Computación , Enfermeras y Enfermeros/psicología , Medicina del Trabajo/métodos , Adulto , China , Femenino , Humanos , Masculino , Persona de Mediana Edad , Método de Montecarlo
16.
Arch. argent. pediatr ; 112(5): e217-e221, oct. 2014. ilus
Artículo en Español | BINACIS | ID: bin-131527

RESUMEN

La deficiencia de biotinidasa es una alteración metabólica autosómica recesiva, que afecta la escisión de biotina disminuyendo su reciclado. Estudios en familiares del caso índice encontraron que generalmente ambos padres son portadores y los hermanos presentan el gen alterado; solo los homocigotos tienen síntomas que varían según el grado de deficiencia. Las madres pueden tener deficiencia moderada y mantenerse asintomáticas. En un estudio que utiliza células humanas expuestas a deficiencia de biotina, disminuyó el crecimiento celular y contribuyó al desarrollo de paladar hendido. La deficiencia de biotina en embarazadas ocasiona malformaciones en los productos. En recién nacidos, la deficiencia de biotinidasa se ha relacionado con síndrome VACTERL y páncreas anular. Se presenta el caso de una lactante con deficiencia de biotinidasa y defecto congénito de anillo vascular que rodea y comprime tráquea y esófago, alterando la deglución y la respiración. La niña fue suplementada con biotina e intervenida, con excelentes resultados.(AU)


Biotinidase deficiency is an autosomal recessive metabolic disorder that affects the cleavage of biotin. Family studies of the index case found that both parents are usually carriers and siblings have the altered gene, but only homozygotes have manifestations that vary depending on the deficiency grade. Mothers may have moderate deficiency and be asymptomatic; biotin deficiency in pregnant women causes defects in children. In a study, using human cells exposed to biotin deficiency, cell growth decreased contributing to the development of cleft palate. In newborns, biotinidase deficiency has been associated with VACTERL syndrome and annular pancreas. The case of an infant with biotinidase deficiency and congenital defect of the vascular ring is presented. This defect surrounds and compresses the trachea and esophagus, disturbing swallowing and breathing. Infant was supplemented with biotin and surgically intervened with excellent results.(AU)

17.
Arch. argent. pediatr ; 112(5): e217-e221, oct. 2014. ilus
Artículo en Español | LILACS | ID: lil-734279

RESUMEN

La deficiencia de biotinidasa es una alteración metabólica autosómica recesiva, que afecta la escisión de biotina disminuyendo su reciclado. Estudios en familiares del caso índice encontraron que generalmente ambos padres son portadores y los hermanos presentan el gen alterado; solo los homocigotos tienen síntomas que varían según el grado de deficiencia. Las madres pueden tener deficiencia moderada y mantenerse asintomáticas. En un estudio que utiliza células humanas expuestas a deficiencia de biotina, disminuyó el crecimiento celular y contribuyó al desarrollo de paladar hendido. La deficiencia de biotina en embarazadas ocasiona malformaciones en los productos. En recién nacidos, la deficiencia de biotinidasa se ha relacionado con síndrome VACTERL y páncreas anular. Se presenta el caso de una lactante con deficiencia de biotinidasa y defecto congénito de anillo vascular que rodea y comprime tráquea y esófago, alterando la deglución y la respiración. La niña fue suplementada con biotina e intervenida, con excelentes resultados.


Biotinidase deficiency is an autosomal recessive metabolic disorder that affects the cleavage of biotin. Family studies of the index case found that both parents are usually carriers and siblings have the altered gene, but only homozygotes have manifestations that vary depending on the deficiency grade. Mothers may have moderate deficiency and be asymptomatic; biotin deficiency in pregnant women causes defects in children. In a study, using human cells exposed to biotin deficiency, cell growth decreased contributing to the development of cleft palate. In newborns, biotinidase deficiency has been associated with VACTERL syndrome and annular pancreas. The case of an infant with biotinidase deficiency and congenital defect of the vascular ring is presented. This defect surrounds and compresses the trachea and esophagus, disturbing swallowing and breathing. Infant was supplemented with biotin and surgically intervened with excellent results.


Asunto(s)
Femenino , Humanos , Lactante , Aorta Torácica/anomalías , Deficiencia de Biotinidasa/complicaciones , Arteria Subclavia/anomalías , Esófago
18.
Arch Argent Pediatr ; 112(5): e217-21, 2014 Oct.
Artículo en Español | MEDLINE | ID: mdl-25192539

RESUMEN

Biotinidase deficiency is an autosomal recessive metabolic disorder that affects the cleavage of biotin. Family studies of the index case found that both parents are usually carriers and siblings have the altered gene, but only homozygotes have manifestations that vary depending on the deficiency grade. Mothers may have moderate deficiency and be asymptomatic; biotin deficiency in pregnant women causes defects in children. In a study, using human cells exposed to biotin deficiency, cell growth decreased contributing to the development of cleft palate. In newborns, biotinidase deficiency has been associated with VACTERL syndrome and annular pancreas. The case of an infant with biotinidase deficiency and congenital defect of the vascular ring is presented. This defect surrounds and compresses the trachea and esophagus, disturbing swallowing and breathing. Infant was supplemented with biotin and surgically intervened with excellent results.


Asunto(s)
Aorta Torácica/anomalías , Deficiencia de Biotinidasa/complicaciones , Arteria Subclavia/anomalías , Esófago , Femenino , Humanos , Lactante
19.
Arch Argent Pediatr ; 112(5): e217-21, 2014 Oct.
Artículo en Español | BINACIS | ID: bin-133465

RESUMEN

Biotinidase deficiency is an autosomal recessive metabolic disorder that affects the cleavage of biotin. Family studies of the index case found that both parents are usually carriers and siblings have the altered gene, but only homozygotes have manifestations that vary depending on the deficiency grade. Mothers may have moderate deficiency and be asymptomatic; biotin deficiency in pregnant women causes defects in children. In a study, using human cells exposed to biotin deficiency, cell growth decreased contributing to the development of cleft palate. In newborns, biotinidase deficiency has been associated with VACTERL syndrome and annular pancreas. The case of an infant with biotinidase deficiency and congenital defect of the vascular ring is presented. This defect surrounds and compresses the trachea and esophagus, disturbing swallowing and breathing. Infant was supplemented with biotin and surgically intervened with excellent results.

20.
Cogn Process ; 14(4): 401-10, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23729236

RESUMEN

Several sources of interference may simultaneously affect the onset of the well-known "Stroop effect." Among them is the semantic component, which is reflected in the gradient or semantic effect. This effect consists of an increase in the amount of interference as the semantic distance between the word and the color concept decreases. Shepard (Science 237:1317-1323, 1987) relates psychological space, measured through multidimensional scaling, to mean response times. The present investigation aims to study the function relating the semantic gradient with the psychological distance between the word and the color in a Stroop task. After measuring the gradient, we obtained the subjective rating of the degree of dissimilarity of the gradient words with the concept of "color." In our work, we show that the amount of interference in a Stroop task increases when the semantic distance from the word to the color concept decreases, and it does so exponentially. We replicated the study with different stimuli to test the robustness of the results.


Asunto(s)
Tiempo de Reacción/fisiología , Test de Stroop , Adulto , Análisis de Varianza , Cognición/fisiología , Color , Interpretación Estadística de Datos , Femenino , Generalización del Estimulo , Humanos , Masculino , Persona de Mediana Edad , Estimulación Luminosa , Semántica , Pruebas de Asociación de Palabras , Adulto Joven
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