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2.
Heliyon ; 9(2): e13601, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36852052

RESUMEN

The prevalence of cardiovascular diseases is increasing around the world. However, the technology is evolving and can be monitored with low-cost sensors anywhere at any time. This subject is being researched, and different methods can automatically identify these diseases, helping patients and healthcare professionals with the treatments. This paper presents a systematic review of disease identification, classification, and recognition with ECG sensors. The review was focused on studies published between 2017 and 2022 in different scientific databases, including PubMed Central, Springer, Elsevier, Multidisciplinary Digital Publishing Institute (MDPI), IEEE Xplore, and Frontiers. It results in the quantitative and qualitative analysis of 103 scientific papers. The study demonstrated that different datasets are available online with data related to various diseases. Several ML/DP-based models were identified in the research, where Convolutional Neural Network and Support Vector Machine were the most applied algorithms. This review can allow us to identify the techniques that can be used in a system that promotes the patient's autonomy.

3.
Data Brief ; 46: 108874, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36660441

RESUMEN

It is increasingly possible to acquire Electrocardiographic data with featured low-cost devices. The proposed dataset will help map different signals for various diseases related to Electrocardiography data. The dataset presented in this paper is related to the acquisition of electrocardiography data during the standing up and seated positions. The data was collected from 219 individuals (112 men, 106 women, and one other) in different environments, but they are in the Covilhã municipality. The dataset includes the 219 recordings and corresponds to the sensors' recordings of a 30 s sitting and a 30 s standing test, which checks to approximately 1 min for each one. This dataset includes 3.7 h (approximately) of recordings for further analysis with data processing techniques and machine learning methods. It will be helpful for the complementary creation of a robust method for identifying the characteristics of individuals related to Electrocardiography signals.

4.
Expert Rev Pharmacoecon Outcomes Res ; 23(1): 99-109, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36356294

RESUMEN

BACKGROUND: There is limited evidence on within-country discrepancies in biosimilar uptake. This study analyzes differences in timing and diffusion of biosimilar uptake across Portuguese NHS hospitals and explores possible determinants. RESEARCH DESIGN AND METHODS: We analyzed publicly accessible consumption data of originator biologic and biosimilar drugs for adalimumab, etanercept, infliximab, rituximab, and trastuzumab, by hospital and month for the years 2015-2021 (N = 9,467). We modeled the time to biosimilar adoption using survival regression models and the share of biosimilar consumption using generalized estimated equations with random hospital effects. RESULTS: Academic hospitals were characterized by a quicker uptake of adalimumab and infliximab biosimilars but lower shares for other drugs. A higher total consumption of biologics was related to a lower share of biosimilar uptake. A stronger participation in randomized controlled trials was linked to higher biosimilar shares and quicker uptake, except for rituximab. If all NHS hospitals had biosimilar shares equal to the highest ones, potential annual savings could reach 13.9 million euros. CONCLUSION: The findings suggest a need for capacity-building on biosimilar prescribing, including for doctors of academic hospitals and those working in settings where high biosimilar use would be expected.


Asunto(s)
Biosimilares Farmacéuticos , Humanos , Adalimumab , Infliximab/uso terapéutico , Portugal , Rituximab , Medicina Estatal , Estudios Longitudinales
5.
Sensors (Basel) ; 22(5)2022 Mar 07.
Artículo en Inglés | MEDLINE | ID: mdl-35271205

RESUMEN

Ideally, to carry out screening for eye diseases, it is expected to use specialized medical equipment to capture retinal fundus images. However, since this kind of equipment is generally expensive and has low portability, and with the development of technology and the emergence of smartphones, new portable and cheaper screening options have emerged, one of them being the D-Eye device. When compared to specialized equipment, this equipment and other similar devices associated with a smartphone present lower quality and less field-of-view in the retinal video captured, yet with sufficient quality to perform a medical pre-screening. Individuals can be referred for specialized screening to obtain a medical diagnosis if necessary. Two methods were proposed to extract the relevant regions from these lower-quality videos (the retinal zone). The first one is based on classical image processing approaches such as thresholds and Hough Circle transform. The other performs the extraction of the retinal location by applying a neural network, which is one of the methods reported in the literature with good performance for object detection, the YOLO v4, which was demonstrated to be the preferred method to apply. A mosaicing technique was implemented from the relevant retina regions to obtain a more informative single image with a higher field of view. It was divided into two stages: the GLAMpoints neural network was applied to extract relevant points in the first stage. Some homography transformations are carried out to have in the same referential the overlap of common regions of the images. In the second stage, a smoothing process was performed in the transition between images.


Asunto(s)
Procesamiento de Imagen Asistido por Computador , Retina , Fondo de Ojo , Humanos , Tamizaje Masivo , Retina/diagnóstico por imagen , Teléfono Inteligente
6.
Materials (Basel) ; 15(3)2022 Jan 28.
Artículo en Inglés | MEDLINE | ID: mdl-35160965

RESUMEN

The radiant floor system market is growing rapidly because Europe is moving toward a low-carbon economy and increased awareness about environmental sustainability and energy efficiency, stimulated by the ambitious EU Energy Efficient Directive and nZEB challenge. The high growth rate of the market share is due to the involvement of homeowners in the specifications of their living commodities, so they are thus willing to invest more at the initial stage to obtain long-term benefits and lower energy exploration costs. We performed an experimental campaign over three slabs with a hydronic radiant floor system of equal dimensions, shape, and pipe pitch with different screed mortar formulations to assess their performance throughout a heating/cooling cycle. The temperature at different heights within the interior of the screed mortars and at the surface were monitored. The results revealed that an improved screed mortar has a relevant impact on the efficiency of the system. Moreover, a three-dimensional transient heat transfer model was validated using the experimental data. The model was used to evaluate the impact of different finishing materials, namely wood, cork, ceramic, and linoleum, on the floor surface temperatures. The results showed differences of 15% in the surface temperature when using different floor finishing solutions.

7.
Int J Mol Sci ; 21(12)2020 Jun 16.
Artículo en Inglés | MEDLINE | ID: mdl-32560276

RESUMEN

Acute pancreatitis (AP) is an inflammatory disorder of the pancreas that, when classified as severe, is associated with high morbidity and mortality. Promptly identifying the severity of AP is of extreme importance for improving clinical outcomes. The aim of this study was to compare the prognostic value of serological biomarkers, ratios, and multifactorial scores in patients with acute biliary pancreatitis and to identify the best predictors. In this observational and prospective study, the biomarkers, ratios and multifactorial scores were evaluated on admission and at 48 h of the symptom onset. On admission, regarding the AP severity, the white blood count (WBC) and neutrophil-lymphocyte ratio (NLR), and regarding the mortality, the WBC and the modified Marshall score (MMS) showed the best predictive values. At 48 h, regarding the AP severity, the hepcidin, NLR, systemic inflammatory response index (SIRI) and MMS and regarding the mortality, the NLR, hepcidin and the bedside index for severity in AP (BISAP) score, showed the best predictive values. The present study enabled the identification, for the first time, of SIRI as a new prognostic tool for AP severity, and validated hepcidin and the NLR as better prognostic markers than C-reactive protein (CRP) at 48 h of symptom onset.


Asunto(s)
Biomarcadores/sangre , Hepcidinas/sangre , Pancreatitis/sangre , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Recuento de Leucocitos , Recuento de Linfocitos , Masculino , Persona de Mediana Edad , Pancreatitis/mortalidad , Valor Predictivo de las Pruebas , Pronóstico , Estudios Prospectivos , Índice de Severidad de la Enfermedad
8.
Acta Med Port ; 33(5): 347-349, 2020 May 04.
Artículo en Portugués | MEDLINE | ID: mdl-32416758

RESUMEN

Bouveret's syndrome is a rare cause of gastric outlet obstruction. We report a case of a 68-year-old woman admitted with upper digestive obstruction. A few months later, and after several diagnostic tests and clinical surveillance, a cholecystoduodenal fistula was suspected. During exploratory laparotomy, the diagnosis of Bouveret's syndrome was confirmed and a pyelolithotomy, pyloroplasty and a cholecystectomy were performed. The patient was asymptomatic 7 months after the operation. This syndrome represents only 1% - 3% of all cases of gallstone ileus, being more frequent in women and in the elderly. The presentation is quite nonspecific, but in most cases the symptomatology suggests an upper digestive occlusion. Treatment can be achieved by lithotripsy, but most patients require a surgical approach.


Apesar de rara, a síndrome de Bouveret é uma das causas descritas de obstrução ao esvaziamento gástrico. Apresentamos o caso clínico de uma doente do género feminino com 68 anos, admitida por quadro sugestivo de 'obstrução digestiva alta'. Após avaliação clínica e realização de estudo complementar, viria a ser colocada, alguns meses mais tarde, a suspeita de fístula colecistoduodenal. A doente foi submetida a laparotomia exploradora, que confirmou o diagnóstico de síndrome de Bouveret, com realização de pilorolitotomia, piloroplastia e colecistectomia. Aos sete meses, encontrava-se assintomática. Esta síndrome representa apenas 1% - 3% de todos os íleos biliares, sendo mais frequente em mulheres e indivíduos mais idosos. A forma de apresentação é bastante inespecífica, mas na maioria dos casos a sintomatologia sugere um quadro de oclusão digestiva alta. O tratamento pode ser realizado através de litotrícia, mas na grande maioria dos doentes é necessária uma abordagem cirúrgica do problema.


Asunto(s)
Cálculos Biliares/complicaciones , Obstrucción de la Salida Gástrica/etiología , Fístula Intestinal/complicaciones , Anciano , Femenino , Cálculos Biliares/cirugía , Obstrucción de la Salida Gástrica/cirugía , Humanos , Fístula Intestinal/cirugía , Síndrome
9.
Int J Mol Sci ; 21(1)2020 Jan 04.
Artículo en Inglés | MEDLINE | ID: mdl-31947993

RESUMEN

Acute pancreatitis (AP) is a severe inflammation of the pancreas presented with sudden onset and severe abdominal pain with a high morbidity and mortality rate, if accompanied by severe local and systemic complications. Numerous studies have been published about the pathogenesis of AP; however, the precise mechanism behind this pathology remains unclear. Extensive research conducted over the last decades has demonstrated that the first 24 h after symptom onset are critical for the identification of patients who are at risk of developing complications or death. The identification of these subgroups of patients is crucial in order to start an aggressive approach to prevent mortality. In this sense and to avoid unnecessary overtreatment, thereby reducing the financial implications, the proper identification of mild disease is also important and necessary. A large number of multifactorial scoring systems and biochemical markers are described to predict the severity. Despite recent progress in understanding the pathophysiology of AP, more research is needed to enable a faster and more accurate prediction of severe AP. This review provides an overview of the available multifactorial scoring systems and biochemical markers for predicting severe AP with a special focus on their advantages and limitations.


Asunto(s)
Biomarcadores/sangre , Pancreatitis/diagnóstico , Enfermedad Aguda , Humanos , Interleucinas/sangre , Enfermedades Metabólicas/complicaciones , Enfermedades Metabólicas/patología , Pancreatitis/diagnóstico por imagen , Pancreatitis/metabolismo , Pronóstico , Índice de Severidad de la Enfermedad , Tomografía Computarizada por Rayos X , Factor de Necrosis Tumoral alfa/sangre
10.
Materials (Basel) ; 12(21)2019 Oct 26.
Artículo en Inglés | MEDLINE | ID: mdl-31717731

RESUMEN

This work reports the main conclusions of a study on the mechanical behavior of concrete under ISO 834 fire with different cooling methods. The aim of this research was to provide reliable data for the analysis of structures damaged by fire. The experimental program used cylindrical concrete test specimens subjected to ISO 834 heating in a furnace up to maximum gas temperatures of 400, 500, 600, 700, and 800 °C. The compressive strength was measured in three situations: (a) at the different temperature levels reached in the furnace; (b) after a natural cooling process; and (c) after aspersion with water at ambient temperature. The results indicate that the concrete residual compressive strength is fairly dependent on the maximum temperature reached in the furnace and revealed that concrete of a lower strength preserved relatively higher levels of strength. The cooling method significantly influenced the strength, albeit at a lower intensity. In all cases, the residual strength remained in the range of 38% to 67% of the strength at ambient temperature. The statistical analysis showed that the data obtained by the experimental program are significant and confirmed the influence of the conditions imposed on the residual strength.

11.
Int J Mol Sci ; 20(11)2019 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-31181644

RESUMEN

Acute pancreatitis (AP) is a severe disease associated with high morbidity and mortality. Clinical studies can provide some data concerning the etiology, pathophysiology, and outcomes of this disease. However, the study of early events and new targeted therapies cannot be performed on humans due to ethical reasons. Experimental murine models can be used in the understanding of the pancreatic inflammation, because they are able to closely mimic the main features of human AP, namely their histologic glandular changes and distant organ failure. These models continue to be important research tools for the reproduction of the etiological, environmental, and genetic factors associated with the pathogenesis of this inflammatory pathology and the exploration of novel therapeutic options. This review provides an overview of several murine models of AP. Furthermore, special focus is made on the most frequently carried out models, the protocols used, and their advantages and limitations. Finally, examples are provided of the use of these models to improve knowledge of the mechanisms involved in the pathogenesis, identify new biomarkers of severity, and develop new targeted therapies.


Asunto(s)
Modelos Animales de Enfermedad , Pancreatitis Aguda Necrotizante/etiología , Animales , Biomarcadores/metabolismo , Ratones , Pancreatitis Aguda Necrotizante/metabolismo , Pancreatitis Aguda Necrotizante/patología , Ratas
12.
Pharmaceutics ; 11(2)2019 Feb 12.
Artículo en Inglés | MEDLINE | ID: mdl-30759886

RESUMEN

The use of morphine applied topically to painful wounds has potential advantages, such as dose reduction, fewer side effects and compound formulations, have been proposed for this purpose. Given the potential high impact of drug product quality on a patient's health, the aim of the present study was to develop two stable sterile hydrogels containing morphine hydrochloride, intended for topical application on painful wounds. Two carboxymethylcellulose sodium-based hydrogels were prepared containing 0.125% w/w (F1-MH semi-solid formulation) and 1.0% w/w (F2-MH fluid formulation) morphine hydrochloride (MH), respectively. Studies included a risk assessment approach for definition of the quality target product profile (QTPP) and assessment of critical quality attributes (CQA) of the hydrogels to support product quality and safety. Safe, odourless, yellowish, translucent and homogeneous gels were obtained, with suitable microbiological and pharmaceutical characteristics. The active substance concentration was adapted according to the characteristics of the dose-metering device. Release profiles were investigated using Franz diffusion cells, and characterised by different kinetic models. Increasing gel viscosity prolonged drug release, with rates of 17.9 ± 2.2 µg·cm-2·h-1 (F1-MH) and 258.0 ± 30.4 µg·cm-2·h-1 (F2-MH), allowing for the reduction of the number of applications and improving patient compliance. The gels proved to be stable for up to 60 days at room temperature. The semi-solid and fluid MH-containing hydrogel formulations are safe, stable and suitable for use in hospital settings, which is rather important for wound-related pain management in cancer palliative care or burn patients.

13.
Oecologia ; 188(4): 1155-1165, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30361763

RESUMEN

The Anthropocene is marked by an unprecedented homogenisation of the world's biota, confronting species that never co-occurred during their evolutionary histories. Interactions established in these novel communities may affect ecosystem functioning; however, most research has focused on the impacts of a minority of aggressive invasive species, while changes inflicted by a less conspicuous majority of non-invasive alien species on community structure are still poorly understood. This information is critical to guide conservation strategies, and instrumental to advance ecological theory, particularly to understand how non-native species integrate in recipient communities and affect the interactions of native species. We evaluated how the structure of 50 published pollination networks changes with the proportion of alien plant species and found that network structure is largely unaffected. Although some communities were heavily invaded, the proportion of alien plant species was relatively low (mean = 10%; max. = 38%). We further characterized the pollination network in a botanic garden with a plant community dominated by non-invasive alien species (85%). We show that the structure of this novel community is also not markedly different from native-dominated communities. Plant-pollinator interactions revealed no obvious differences regarding plant origin (native vs. alien) or the native bioregion of the introduced plants. This overall similarity between native and alien plants is likely driven by the contrasting patterns of invasive plants (promoting generalism), and non-invasive aliens, suggested here to promote specialization.


Asunto(s)
Ecosistema , Polinización , Animales , Biota , Insectos , Especies Introducidas , Plantas
14.
Eur J Hosp Pharm ; 25(1): 43-47, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31156984

RESUMEN

BACKGROUND: Primary cutaneous lymphomas (extranodular non-Hodgkin lymphomas) are rare (incidence 1:100 000). Mycosis fungoides is the most common cutaneous T-cell lymphoma (CTCL) subtype. Treatment options are based on the diagnosis and the stage of the disease. Skin-directed therapies are useful for the initial stages and include topical treatments such as corticosteroids. Betamethasone dipropionate (BD) is a synthetic glucocorticoid with high anti-inflammatory activity, potency and immunosuppressant effects. It is used for topical treatment of CTCL within the following dosage 0.025-0.1% (w/w). In the Portuguese market only one topical cream contains BD at 0.05% (w/w). OBJECTIVES: To develop a new and stable emulsion containing 0.1% of BD. METHODS: To accomplish this aim, development, stability, in vitro release and clinical studies of a new topical water-in-oil emulsion containing BD 0.1% w/w were assessed for the topical treatment of CTCL. RESULTS: The three batches prepared were physically, chemically and microbiologically stable over a period of 90 days. 40% of BD was released over 6 hours and evaluation of skin lesions showed a favourable clinical effect (less itching, less infiltration, fewer patches and a reduced area of plaque). CONCLUSIONS: The clinical results show the effective cutaneous improvement of skin barrier conditions during the study.

15.
Acta Med Port ; 30(11): 762-768, 2017 Nov 29.
Artículo en Portugués | MEDLINE | ID: mdl-29279067

RESUMEN

INTRODUCTION: Breast cancer is the second most common oncological disease worldwide. To analyse the new disease specific funding programme (breast cancer) implemented at the Francisco Gentil Portuguese Institute of Oncology, Lisbon Center (Instituto Português de Oncologia de Lisboa Francisco Gentil), the actual costs of the patients were examined using activity-based costing as a costing methodology. This study addresses the following question: "How much does it cost to treat breast cancer per 'patient-month' compared to the monthly fixed 'funding envelope'?". MATERIALS AND METHODS: The study cohort consisted of 807 patients, corresponding to all the patients eligible for the new disease specific funding programme and who were enrolled during the first year of implementation. Activity-based costing was used to calculate the total real costs per stage of disease and per 'patient-month' as well as the deviation from the monthly fixed 'funding envelope'. RESULTS: The total costs were 6.6 M€, whereas the total funding was 5.2 M€ for a total of 5648 'patient-months'. In 2014, the balance difference between the funding obtained and the actual costs was -1.4 €M for the cohort of 807 patients. DISCUSSION: The extreme cases of differences in cost per 'patient-month' compared to the monthly fixed 'funding envelope' were (i) stage 0/Tis, with higher funding at 415.23 € per 'patient-month', and (ii) stage IIIC, with lower funding at 1062.79 € per 'patient-month'. CONCLUSION: The 'patient-month' cost, regardless of disease stage was 1170.29 €. The median deviation per 'patient-month' was negative (241.21 €) compared to the monthly fixed 'funding envelope' of 929.08 € in the first year. Establishing activity-based costing - funding models will be crucial for the future sustainability of the healthcare sector.


Introdução: O cancro de mama é a segunda doença oncológica mais comum no mundo. Com o propósito de estudar o novo financiamento por patologia ­ cancro de mama ­ implementado no Instituto Português de Oncologia de Lisboa Francisco Gentil, foram analisados os custos reais dos doentes, através da metodologia de custeio activity based costing. Pretendeu-se dar resposta à pergunta de investigação: "Quanto custa tratar o cancro de mama por 'mês*doente' face ao 'envelope financeiro' fixo mensal?". Material e Métodos: O universo foi constituído por 807 doentes correspondendo a todos os doentes elegíveis no novo programa de financiamento por patologia e entrados ao longo do primeiro ano de implementação. Através do activity based costing foram apurados os custos reais totais por estádio da doença e por 'mês*doente' e o desvio relativamente ao 'envelope financeiro' fixo mensal. Resultados: Total de custos (6,6 M€), total de financiamento (5,2 M€) para um total de 5648 'meses*doente'. Em 2014, o saldo entre o financiamento obtido e os custos reais, foi negativo em 1,4 M€ para o universo de 807 doentes. Discussão: As situações extremas em termos de custos por 'mês*doente' face ao 'envelope financeiro' mensal fixo foram: (i) o estádio 0/TIS com financiamento superior em 415,23 € por 'mês*doente'; (ii) o estádio IIIC com um financiamento inferior em 1062,79 € por 'mês*doente'. Conclusão: O custo 'mês*doente', independentemente do estádio da doença, foi de 1170,29 €. O desvio médio 'mês*doente' foi negativo (241,21 €) face ao 'envelope financeiro' mensal fixo de 929,08 € no primeiro ano. Estabelecer modelos de financiamento com base no activity based costing será crucial para a sustentabilidade futura do sector da saúde.


Asunto(s)
Neoplasias de la Mama/economía , Neoplasias de la Mama/terapia , Análisis Costo-Beneficio , Costos de la Atención en Salud , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad
16.
Eur J Hum Genet ; 23(6): 877-9, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25248398

RESUMEN

Somatic mutations in the promoter region of telomerase reverse transcriptase (TERT) gene, mainly at positions c.-124 and c.-146 bp, are frequent in several human cancers; yet its presence in gastrointestinal stromal tumor (GIST) has not been reported to date. Herein, we searched for the presence and clinicopathological association of TERT promoter mutations in genomic DNA from 130 bona fide GISTs. We found TERT promoter mutations in 3.8% (5/130) of GISTs. The c.-124C>T mutation was the most common event, present in 2.3% (3/130), and the c.-146C>T mutation in 1.5% (2/130) of GISTs. No significant association was observed between TERT promoter mutation and patient's clinicopathological features. The present study establishes the low frequency (4%) of TERT promoter mutations in GISTs. Further studies are required to confirm our findings and to elucidate the hypothetical biological and clinical impact of TERT promoter mutation in GIST pathogenesis.


Asunto(s)
Neoplasias Gastrointestinales/genética , Tumores del Estroma Gastrointestinal/genética , Tasa de Mutación , Regiones Promotoras Genéticas , Telomerasa/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación
17.
Int J Surg Case Rep ; 4(11): 969-71, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24055920

RESUMEN

INTRODUCTION: Foreign bodies ingestion is frequent and can cause several complications. Perforation is rare but can occur in any segment of the gastrointestinal tract. Fish bones are one of the most frequent objects responsible. PRESENTATION OF CASE: A 77-year-old patient resorted to emergency room for severe abdominal pain with 5 days of evolution. A CT scan showed an undefined liquid collection involving a linear image with 25mm, suggestive of a foreign body. On laparotomy an abscess was resected with a fish bone inside. DISCUSSION: Bowel perforation by foreign bodies can mimic other abdominal emergency conditions. Since fish bone ingestion is usually not remembered, diagnosis can be late. Surgery is the treatment of choice and is most commonly performed by laparotomy. CONCLUSION: A low threshold of suspicion along with a good clinical history and radiological studies is extremely important in order to make a correct diagnosis.

18.
Eur J Hum Genet ; 21(5): 503-10, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-22948025

RESUMEN

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract, disclosing somatic KIT, PDGFRA and BRAF mutations. Loss of function of succinate dehydrogenase (SDH) complex is an alternative molecular mechanism in GISTs, namely in carriers of germline mutations of the SDH complex that develop Carney-Stratakis dyad characterized by multifocal GISTs and multicentric paragangliomas (PGLs). We studied a series of 25 apparently sporadic primary wild-type (WT) KIT/PDGFRA/BRAF GISTs occurring in patients without personal or familial history of PGLs, re-evaluated clinicopathological features and analyzed molecular alterations and immunohistochemistry expression of SDH complex. As control, we used a series of well characterized 49 KIT/PDGFRA/BRAF-mutated GISTs. SDHB expression was absent in 20% and SDHB germline mutations were detected in 12% of WT GISTs. Germline SDHB mutations were significantly associated to younger age at diagnosis. A significant reduction in SDHB expression in WT GISTs was found when compared with KIT/PDGFRA/BRAF-mutated GISTs. No significant differences were found when comparing DOG-1 and c-KIT expression in WT, SDHB-mutated and KIT/PDGFRA/BRAF-mutated GISTs. Our results confirm the occurrence of germline SDH genes mutations in isolated, apparently sporadic WT GISTs. WT KIT/PDGFRA/BRAF GISTs without SDHB or SDHA/SDHB expression may correspond to Carney-Stratakis dyad or Carney triad. Most importantly, the possibility of PGLs (Carney-Stratakis dyad) and/or pulmonary chondroma (Carney triad) should be addressed in these patients and their kindred.


Asunto(s)
Tumores del Estroma Gastrointestinal/enzimología , Neoplasias Pulmonares/metabolismo , Paraganglioma/enzimología , Proteínas Proto-Oncogénicas B-raf/genética , Proteínas Proto-Oncogénicas c-kit/genética , Receptor alfa de Factor de Crecimiento Derivado de Plaquetas/genética , Succinato Deshidrogenasa/metabolismo , Adulto , Anciano , Anciano de 80 o más Años , Anoctamina-1 , Secuencia de Bases , Benzamidas/uso terapéutico , Canales de Cloruro/genética , Femenino , Tumores del Estroma Gastrointestinal/tratamiento farmacológico , Tumores del Estroma Gastrointestinal/patología , Humanos , Mesilato de Imatinib , Inmunohistoquímica , Neoplasias Pulmonares/genética , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Mutación/genética , Proteínas de Neoplasias/genética , Piperazinas/uso terapéutico , Pirimidinas/uso terapéutico , Análisis de Secuencia de ADN , Succinato Deshidrogenasa/genética
19.
Coluna/Columna ; 12(3): 192-195, 2013. ilus, tab
Artículo en Portugués | LILACS | ID: lil-694034

RESUMEN

OBJETIVO: Verificar a presença do sinal de sedimentação nos pacientes com canal lombar estreito (CLE) comparando-os com os pacientes sem CLE. MÉTODOS: Realizado um estudo retrospectivo, transversal e descritivo. Realizada a revisão dos processos imagiológicos dos pacientes com CLE operados entre 1 de janeiro de 2008 e 31 de dezembro de 2009, comparando-os com os dos pacientes sem CLE observados em consulta externa. Os pacientes foram divididos em dois grupos: grupo I com 34 pacientes com diagnóstico de CLE. Critérios diagnósticos: existência de lombalgia e/ou claudicação neurogénica e/ou radiculopatia, associados a um diâmetro anteroposterior do canal menor que 10mm e grupo II com 40 pacientes observados em consulta externa por lombalgia sem clínica de CLE. Foi feita a medicação do diâmetro do canal e verificada a presença do sinal de sedimentação entre D12 a S1. RESULTADOS: O sinal da sedimentação foi positivo em 31 dos 34 pacientes do grupo I (91,2%), em dois destes 31 pacientes apenas abaixo da estenose. Este sinal não foi encontrado em nenhum paciente do segundo grupo. Verifica-se uma correlação estatisticamente significativa entre as variáveis "diâmetro do canal" e a "presença do sinal da sedimentação" (p<0.01) no grupo de pacientes com canal lombar estreito. CONCLUSÕES: O diagnóstico de CLE nem sempre é fácil atendendo à frequente dissonância entre os achados clínicos e imagiológicos. O sinal de sedimentação é positivo em pacientes com CLE entre os níveis L1 e L5, podendo ser um sinal válido para complementar o diagnóstico de CLE.


OBJECTIVE: To verify the presence of the sedimentation sign in patients with lumbar spinal stenosis (LSS) in comparison to those without LSS. METHODS: Retrospective, cross-sectional and descriptive study. Review of the imaging processes of patients with LSS operated between January 1, 2008 and December 31, 2009, comparing with patients without LSS observed in outpatient consultations. Patients were divided into two groups: group I had 34 patients with a diagnosis of LSS. Diagnostic criteria: existence of low back pain and/or neurogenic claudication and/or radiculopathy, associated with an anteroposterior canal diameter of less than 10 mm. Group II had 40 patients observed in outpatient consultations for low back pain without clinical LSS. The canal diameter was measured and the presence of the sedimentation sign between D12 and S1 was verified. RESULTS: A positive sedimentation sign was identified in 31 of the 34 patients in group I (91.2%); only below the stenosis in two of these 31 patients. The sign was not observed in the patients in group II. A statistically significant correlation was observed between the variables "canal diameter" and "presence of sedimentation sign" (p < 0.01) in the group of patients with lumbar spinal stenosis. CONCLUSION: The diagnosis of LSS is not always easy due to the frequent dissonance between the clinical and imaging findings. The sedimentation sign is positive in patients with LSS between L1 and L5 and can be a valid sign to complement the diagnosis of LSS.


OBJETIVO: Verificar la presencia de la señal de sedimentación en los pacientes con Canal Lumbar Estrecho (CLE), comparándolos con los pacientes sin CLE. MÉTODOS: Realizado un estudio retrospectivo, transversal y descriptivo. Realizada la revisión de los procesos de imagen de los pacientes con CLE operados entre el 1ro de enero de 2008 y el 31 de diciembre de 2009, en comparación con los pacientes sin CLE observados en las consultas externas. Creamos dos grupos de pacientes: grupo I, 34 pacientes con diagnóstico de CLE. Criterios de diagnósticos: existencia de lumbago y/o claudicación neurogénica y/o radiculopatía, asociados a un diámetro del canal menor de 10 mm. Grupo II, 40 pacientes observados en consultas externas por lumbago sin clínica de CLE. Se realizó la medicación del diámetro del canal y fue verificada la presencia de la señal de sedimentación entre D12 y S1. RESULTADOS: La señal de la sedimentación fue positiva en 31 de los 34 pacientes del grupo I (91,2 %), en dos de estos 31 pacientes solamente por debajo de la estenosis. Esta señal no se encontró en ningún paciente del segundo grupo. Se verificó una correlación, estadísticamente significativa, entre las variables "diámetro del canal" y la "presencia de la señal de la sedimentación" (p<0,01) en el grupo de pacientes con canal lumbar estrecho. CONCLUSIONES: El diagnóstico de CLE no siempre es fácil atendiendo a la frecuente discrepancia entre los hallazgos clínicos y de imagen. La señal de sedimentación es positiva en pacientes con CLE entre los niveles L1 y L5, pudiendo ser una señal válida para complementar el diagnóstico de CLE.


Asunto(s)
Humanos , Espectroscopía de Resonancia Magnética , Diagnóstico por Imagen , Cauda Equina , Sedimentación , Constricción Patológica
20.
Rev. Soc. Bras. Med. Trop ; 45(6): 774-776, Nov.-Dec. 2012. ilus
Artículo en Inglés | LILACS | ID: lil-661086

RESUMEN

Echinococcosis/hydatidosis is common in societies where agriculture and livestock are frequent, and represents a public health problem. The therapeutic management depends on the cyst's characteristics, the patient, and surgical contraindications. Endoscopic retrograde cholangiopancreatography is a valuable tool in the diagnosis and treatment of complicated hepatic hydatid disease. Ultrasonography is a useful diagnostic, therapeutic and follow-up tool. The authors report a case of a 56 years old patient who was diagnosed with a hepatic hydatid cyst in the IVa/VIII segments, describe the therapeutic options and 50 months of disease-free follow-up.


A equinococose/hidatidose é comum em sociedades onde predominam a agricultura e a criação de gado, sendo um problema de saúde pública. As várias opções terapêuticas dependem das caraterísticas do quisto, do doente e da eventual presença de contraindicações cirúrgicas. A colangiopancreatografia retrógrada endoscópica constitui uma válida ferramenta no diagnóstico e tratamento da doença hidática hepática complicada. A ecografia é um instrumento útil no diagnóstico, na terapêutica e seguimento. Os autores apresentam um caso de uma doente de 56 anos a quem foi diagnosticado um quisto hidático hepático nos segmentos IVa/VIII, descrevem as opções terapêuticas e o seguimento de 50 meses livres de doença.


Asunto(s)
Femenino , Humanos , Persona de Mediana Edad , Equinococosis Hepática/terapia , Colangiopancreatografia Retrógrada Endoscópica , Equinococosis Hepática/diagnóstico , Estudios de Seguimiento , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
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