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1.
Sci Data ; 10(1): 419, 2023 06 27.
Artigo em Inglês | MEDLINE | ID: mdl-37369663

RESUMO

Commonly used data citation practices rely on unverifiable retrieval methods which are susceptible to content drift, which occurs when the data associated with an identifier have been allowed to change. Based on our earlier work on reliable dataset identifiers, we propose signed citations, i.e., customary data citations extended to also include a standards-based, verifiable, unique, and fixed-length digital content signature. We show that content signatures enable independent verification of the cited content and can improve the persistence of the citation. Because content signatures are location- and storage-medium-agnostic, cited data can be copied to new locations to ensure their persistence across current and future storage media and data networks. As a result, content signatures can be leveraged to help scalably store, locate, access, and independently verify content across new and existing data infrastructures. Content signatures can also be embedded inside content to create robust, distributed knowledge graphs that can be cited using a single signed citation. We describe applications of signed citations to solve real-world data collection, identification, and citation challenges.

2.
Bioscience ; 72(10): 978-987, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36196222

RESUMO

The early twenty-first century has witnessed massive expansions in availability and accessibility of digital data in virtually all domains of the biodiversity sciences. Led by an array of asynchronous digitization activities spanning ecological, environmental, climatological, and biological collections data, these initiatives have resulted in a plethora of mostly disconnected and siloed data, leaving to researchers the tedious and time-consuming manual task of finding and connecting them in usable ways, integrating them into coherent data sets, and making them interoperable. The focus to date has been on elevating analog and physical records to digital replicas in local databases prior to elevating them to ever-growing aggregations of essentially disconnected discipline-specific information. In the present article, we propose a new interconnected network of digital objects on the Internet-the Digital Extended Specimen (DES) network-that transcends existing aggregator technology, augments the DES with third-party data through machine algorithms, and provides a platform for more efficient research and robust interdisciplinary discovery.

3.
Sci Rep ; 10(1): 15466, 2020 09 22.
Artigo em Inglês | MEDLINE | ID: mdl-32963342

RESUMO

Loss of cerebral autoregulation in normal perfusion pressure breakthrough (NPPB) phenomenon has been reported in other Central Nervous System diseases such as neonatal intraventricular haemorrhage. Several studies have demonstrated that low-dose indomethacin prevents this latter condition. A previous rat model was used to resemble NPPB phenomenon. Study animals were distributed in 4 groups that received 3 doses of indomethacin at different concentrations prior to fistula occlusion 60 days after its creation. Control animals received saline solution. Intracranial pressure (ICP) increased in all groups following fistula creation, whereas mean arterial pressure (MAP) and cerebral perfusion pressure (CPP) decreased as a manifestation of cerebral hypoperfusion and intracranial hypertension. The administration of indomethacin was associated with raised MAP and CPP, as well as decreased ICP. Sodium fluorescein extravasation was slight in study animals when comparing with control ones. Histological analysis evidenced diffuse ischaemic changes with signs of neuronal apoptosis in all brain layers in control animals. These findings were only focal and slight in study animals. The results suggest the usefulness of indomethacin to revert, at least partially, the haemodynamic effects of NPPB phenomenon in this experimental model, as well as to reduce BBB disruption and histological ischemia observed in absence of indomethacin.


Assuntos
Barreira Hematoencefálica/efeitos dos fármacos , Isquemia Encefálica/tratamento farmacológico , Circulação Cerebrovascular/efeitos dos fármacos , Indometacina/farmacologia , Fármacos Neuroprotetores/farmacologia , Animais , Anti-Inflamatórios não Esteroides/farmacologia , Barreira Hematoencefálica/patologia , Isquemia Encefálica/etiologia , Isquemia Encefálica/patologia , Masculino , Perfusão , Ratos , Ratos Wistar
4.
Mod Pathol ; 33(11): 2139-2146, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32620916

RESUMO

The spectrum of COVID-19 infection includes acute respiratory distress syndrome (ARDS) and macrophage activation syndrome (MAS), although the histological basis for these disorders has not been thoroughly explored. Post-mortem pulmonary and bone marrow biopsies were performed in 33 patients. Samples were studied with a combination of morphological and immunohistochemical techniques. Bone marrow studies were also performed in three living patients. Bone marrow post-mortem studies showed striking lesions of histiocytic hyperplasia with hemophagocytosis (HHH) in most (16/17) cases. This was also observed in three alive patients, where it mimicked the changes observed in hemophagocytic histiocytosis. Pulmonary changes included a combination of diffuse alveolar damage with fibrinous microthrombi predominantly involving small vessels, in particular the alveolar capillary. These findings were associated with the analytical and clinical symptoms, which helps us understand the respiratory insufficiency and reveal the histological substrate for the macrophage activation syndrome-like exhibited by these patients. Our results confirm that COVID-19 infection triggers a systemic immune-inflammatory disease and allow specific therapies to be proposed.


Assuntos
Infecções por Coronavirus/patologia , Histiócitos/patologia , Linfo-Histiocitose Hemofagocítica/patologia , Linfo-Histiocitose Hemofagocítica/virologia , Pneumonia Viral/patologia , Síndrome do Desconforto Respiratório/patologia , Síndrome do Desconforto Respiratório/virologia , Idoso , Idoso de 80 Anos ou mais , Betacoronavirus , Medula Óssea/patologia , COVID-19 , Feminino , Humanos , Hiperplasia/patologia , Hiperplasia/virologia , Pulmão/patologia , Masculino , Pessoa de Meia-Idade , Pandemias , SARS-CoV-2
5.
Neurocirugia (Astur : Engl Ed) ; 31(5): 209-215, 2020.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31948841

RESUMO

BACKGROUND: Normal perfusion pressure breakthrough (NPPB) phenomenon is a major life-threatening complication that restricts the treatment of complex intracranial arteriovenous malformations. The aim of the study it to develop a rat model mimicking NPPB phenomenon that enables the evaluation of any therapy to prevent such complication. METHODS: Twenty Wistar male rats were randomly assigned to either a study or a control group. Study animals underwent an end-to-side left external jugular vein-common carotid artery anastomosis and ligation of bilateral external carotid arteries. Control animals only underwent ligation of bilateral external carotid arteries. All animals were sacrificed sixty days after the procedure. Hemodynamic parameters [mean arterial pressure (MAP), intracranial pressure (ICP) and cerebral perfusion pressure (CPP)], blood-brain barrier (BBB) permeability (measured by fluorescein staining) and histological features were then compared between both groups. RESULTS: A significant decrease in MAP and CPP was confirmed in the study group. An increase in ICP was also observed. A significant decrease in MAP and CPP was also present in the study group when comparing preoperative values with those recorded on days 0 (postoperative), 7 and 60. Fluorescein staining findings were consistent with signs of BBB disruption in study animals. Histological analysis demonstrated an increased number of pyknotic neurons in the ipsilateral hemisphere of rat brains included in the study group. CONCLUSION: These results confirm that this model mimics a vascular steal state with chronic cerebral hypoperfusion comparable to patients with AVMs behavior and disruption of the BBB after fistula closure comparable to NPPB phenomenon disorders.


Assuntos
Isquemia Encefálica , Animais , Isquemia Encefálica/etiologia , Circulação Cerebrovascular , Humanos , Pressão Intracraniana , Masculino , Perfusão , Ratos , Ratos Wistar , Reperfusão
6.
Panminerva Med ; 59(1): 67-75, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27701367

RESUMO

Diabetic kidney disease (DKD) is one of the most frequent and dangerous complications of diabetes mellitus type 2, affecting about one­third of the patients. DKD results in increased hospitalizations and mortality rates, especially due to cardiovascular complications. This high burden of kidney disease is mainly due to the increasing complexity of in- outpatient care for patients with DM. There is a strikingly complex interaction of kidney dysfunction with many aspects of diabetes care, such as redefinition of targets of treatment, interactions of traditional and non­traditional risk factors, and pharmacological issues related to pharmacokinetic and side effects of drugs. Particularly when not carefully managed, DKD increases the demand for renal replacement therapies, such as dialysis and kidney transplants. The combined economic and social costs of this disease are high and of concern to the world's health systems. The main objective of this review is to provide insight into the recommendations for the evaluation and stratification of DKD and how the presence of kidney disease changes the optimal management of diabetic patients from an integrated renal­cardio­endocrine perspective.


Assuntos
Diabetes Mellitus Tipo 2/terapia , Nefropatias Diabéticas/terapia , Automonitorização da Glicemia , Pressão Sanguínea , Sistema Endócrino , Fibrinolíticos/uso terapêutico , Inibidores de Glicosídeo Hidrolases/uso terapêutico , Coração/fisiopatologia , Homeostase , Humanos , Hiperglicemia/tratamento farmacológico , Hipoglicemia/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Insulina/uso terapêutico , Rim/fisiopatologia , Metformina/uso terapêutico , Inibidores da Agregação Plaquetária/uso terapêutico , Compostos de Sulfonilureia/uso terapêutico , alfa-Glucosidases
7.
Case Rep Hematol ; 2016: 7297920, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27807488

RESUMO

NK/T-cell lymphomas are a group of clonal proliferations of NK- or, rarely, T-cell types and have peculiar clinicopathologic features. Most common site of involvement is the upper aerodigestive tract (nasal cavity, nasopharynx, paranasal sinuses, and palate). Association of autoimmune paraneoplastic disorders with NK/T-cell lymphomas is not well studied. Our patient was diagnosed with NK/T-cell lymphoma stage IV with skin involvement and treated frontline with CHOEP regimen. While he was under treatment, two immune complications presented: anterior uveitis of autoimmune origin refractory to steroids and myositis in lower limbs muscles. Autologous transplantation was rejected due to confirmed early relapse after first-line treatment, and the patient received second-line treatment according to the SMILE scheme, reaching complete response after four cycles. The patient underwent allogeneic transplantation and at the time of manuscript preparation is alive despite multiple complications. The disease should be suspected in patients with rhinitis or recurrent sinusitis, and early biopsy is recommended for all patients to avoid a delay in diagnosis. Our patient also presented symptoms of disease progression after first-line treatment, representing a paraneoplastic process, a very rare phenomenon in T-type lymphomas. This case is novel for the appearance of an inflammatory myositis, a histologically verified paraneoplastic phenomenon that responded to treatment for lymphoma.

8.
Rev. psicol. organ. trab ; 16(3): 259-273, set. 2016. ilus, tab
Artigo em Português | LILACS-Express | LILACS | ID: lil-791850

RESUMO

A área de security, e especificamente de security no canal de inspeção de segurança da aviação civil brasileira, apresenta carência de estudos quanto à identificação, à quantificação, à causa e ao impacto de fatores e erros humanos. Este estudo teve o objetivo de identificar os fatores e erros humanos envolvidos no processo de inspeção de segurança da aviação civil brasileira. Empregando-se a teoria do sistema geral de modelagem do erro - GEMS "Generic Error-Modelling System"- e os quatro eixos temáticos sobre fatores humanos preconizados pela Organização de Aviação Civil Internacional (OACI), elaborou-se o instrumento da pesquisa constituído por 60 questões. A amostra foi composta por 602 (seiscentos e dois) profissionais AVSEC (segurança da aviação civil contra atos de interferência ilícita) que laboram no canal de inspeção, distribuídos em 18 (dezoito) aeroportos brasileiros. Os resultados foram retratados por meio de estatística descritiva e Análise de Componentes Principais (ACP). Os principais pontos da etapa descritiva fazem referência ao tempo de serviço majoritário no canal de inspeção, ao grau de escolaridade e ao de rendimento mensal bruto. Após as etapas da ACP, 46 itens do questionário foram categorizados em 7 (sete) componentes principais, os quais representaram 42, 04% da proporção total da variância explicada dos dados, isto é, dos erros e fatores humanos pesquisados. Concluiu-se, a partir da ACP, que há incidência de fatores e erros humanos no processo de inspeção de segurança, cujos percentuais são retratados neste artigo.


This study aimed at identifying human factors and errors that may exist in the Brazilian civil aviation security inspection process. Employing the theory of the Generic Error Modeling System (GEMS) and the four themes about human factors recommended by the International Civil Aviation Organization - ICAO, the research instrument was formulated, being composed of 60 questions. The sample was composed of six hundred and two (602) AVSEC professionals (civil aviation security against acts of unlawful interference) who work in security check points, covering eighteen (18) Brazilian airports. The results were presented using descriptive statistics and Principal Components Analysis - PCA. The main points of the descriptive stage related to the preponderant length of service, level of education, and monthly income. After the PCA steps, 46 questionnaire items were categorized into seven (7) principal components, which represented 42.04% of the total variance being explained by the data. It was concluded from the PCA that there is incidence of human factors and errors in the security inspection process, whose percentages are described in this article.


El área de la seguridad, y, específicamente, en el canal de inspección de seguridad de la aviación civil brasileña, muestra carencia de estudios sobre la identificación, cuantificación, causas e impacto al respecto de errores y factores humanos. Este estudio tuvo como objetivo identificar los factores y los errores humanos que intervienen en el proceso de inspección de seguridad de la aviación civil brasileña. Al emplearse la teoría del sistema de modelación del error -GEMS "Generic Error - Modelling System- y de las cuatro áreas temáticas de los factores humanos recomendados por la Organización de Aviación Civil Internacional (OACI), se elaboró un instrumento de investigación constituido de 60 preguntas. La muestra consistió en 602 (seiscientos dos) profesionales AVSEC (seguridad de la aviación civil contra actos de interferencia ilícita), que trabajan en el canal de inspección de seguridad, repartidos en dieciocho (18) aeropuertos. Los resultados fueron retratados a través de estadística descriptiva y Análisis de Componentes Principales (ACP). Los puntos principales de la etapa descriptiva se refieren al tiempo de servicio en el canal de la inspección, el nivel de escolaridad y el ingreso bruto mensual. Tras los pasos de la ACP, 46 ítems del cuestionario fueron clasificados en 7 (siete) componentes principales, que representaron el 42.04% de la proporción total de varianza explicada de los datos. Se concluyó, a partir de la ACP, que hay incidencia de factores y errores humanos en el proceso de inspección de seguridad, cuyos porcentajes son retratados en este artículo.

9.
Crit Rev Oncol Hematol ; 98: 170-9, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26597015

RESUMO

Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine tumor of the skin. Therapeutic approach is often unclear, and considerable controversy exists regarding MCC pathogenesis and optimal management. Due to its rising incidence and poor prognosis, it is imperative to establish the optimal therapy for both the tumor and the lymph node basin, and for treatment to include sentinel node biopsy. Sentinel node biopsy is currently the most consistent predictor of survival for MCC patients, although there are conflicting views and a lack of awareness regarding node management. Tumor and node management involve different specialists, and their respective decisions and interventions are interrelated. No effective systemic treatment has been made available to date, and therefore patients continue to experience distant failure, often without local failure. This review aims to improve multidisciplinary decision-making by presenting scientific evidence of the contributions of each team member implicated in MCC management. Following this review of previously published research, the authors conclude that multidisciplinary team management is beneficial for care, and propose a multidisciplinary decision algorithm for managing this tumor.


Assuntos
Algoritmos , Carcinoma de Célula de Merkel/terapia , Terapia Combinada/métodos , Tomada de Decisões , Comunicação Interdisciplinar , Neoplasias Cutâneas/terapia , Humanos , Linfonodos/patologia , Tumores Neuroendócrinos/terapia , Equipe de Assistência ao Paciente , Biópsia de Linfonodo Sentinela , Pele/patologia , Resultado do Tratamento
10.
Acta Neurochir (Wien) ; 157(8): 1339-43; discussion 1343, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26085111

RESUMO

Sparganosis is a severe parasitic infection caused by the larvae of Spirometra mansoni, also called "sparganum." In human hosts, the Spirometra mansoni larva commonly targets the subcutaneous tissue or muscle. Sometimes it can also migrate into the brain, resulting in cerebral sparganosis, mainly characterized by focal neurological symptoms such as seizures and radiological "wandering lesions" on magnetic resonance images (MRIs). Clinical cases of cerebral sparganosis have been reported worldwide, mainly in Asian countries, but also in North America, South America and Australia. Only two cases have been previously reported in Europe. A 29-year-old male from Bolivia, who lived in Spain, presented to our service for seizures and a multicystic brain lesion, initially suspected to be a dysembryoplastic neuroepithelial tumor (DNET). He underwent gross total resection of the mixed solid/cystic lesion. Pathology revealed gliosis, multiple interconnected cystic cavities with fibrous walls, inflammatory cell infiltration and no necrotizing granulomatous reaction. Inside the cavities, a parasitic form was identified as the larva of the cestode Spirometra mansoni. At 1-year follow-up, the patient had no deficits and was seizure free. Clinicians should be alerted to the possible existence of this rare entity in Europe, especially in patients from endemic areas with a possible infection history as well as "wandering lesions" on the MRI.


Assuntos
Encefalopatias/diagnóstico , Encefalopatias/parasitologia , Imageamento por Ressonância Magnética , Esparganose/diagnóstico , Esparganose/patologia , Adulto , Animais , Encéfalo/parasitologia , Encéfalo/patologia , Encéfalo/cirurgia , Encefalopatias/cirurgia , Craniotomia , Europa (Continente) , Humanos , Masculino , Procedimentos Neurocirúrgicos , Convulsões/etiologia , Convulsões/parasitologia , Espanha , Esparganose/cirurgia , Spirometra/isolamento & purificação , Resultado do Tratamento
11.
Am J Dermatopathol ; 37(9): e107-11, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25943241

RESUMO

Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft-tissue tumor characterized by a relatively high risk for local recurrence and low risk for metastasis. Many histopathologic variants of DFSP have been described, including the fibrosarcomatous and myoid variants, which may obscure the diagnosis in some cases, especially when arising in unusual locations. Of all the variants described so far, the only one with prognostic relevance is the FS-DFSP variant, which implies tumor progression and a higher possibility for metastasis. The authors report a case of a giant DFSP, located on the vulvar area, which histopathologically showed areas of fibrosarcomatous and myoid differentiation, and discuss the importance of the myoid variant in regards of the debated histogenesis of DFSP.


Assuntos
Dermatofibrossarcoma/patologia , Neoplasias Vulvares/patologia , Adulto , Diferenciação Celular , Feminino , Humanos
12.
Rev. bras. cardiol. invasiva ; 22(2): 125-130, Apr-Jun/2014. tab
Artigo em Português | LILACS | ID: lil-722244

RESUMO

Introdução: Estudos demonstram que o acesso via artéria radial diminui o risco de complicações vasculares e hemorrágicas associadas à intervenção coronária percutânea. Nosso objetivo foi avaliar os resultados hospitalares da utilização da via radial em pacientes idosos submetidos à intervenção coronária percutânea. Métodos: Registro prospectivo, que incluiu pacientes ≥ 70 anos, tendo sido comparados os desfechos de segurança e de eficácia entre os grupos tratados pelas vias radial e femoral. Resultados: Incluímos 225 pacientes, sendo 117 (52%) tratados por via radial e 108 por via femoral. À exceção da idade, as demais características clínicas não mostraram diferenças entre os grupos. Predominaram os pacientes do sexo masculino (60%), 36,7% eram diabéticos e mais de um terço foi tratado na vigência de quadro de síndrome coronária aguda. As variáveis angiográficas e do procedimento não mostraram diferenças entre os grupos. Na comparação das taxas de complicações vasculares, somente os hematomas < 5 cm (5,1% vs. 17,6%; p < 0,01) foram mais prevalentes no acesso femoral. Sangramentos maiores, pelo critério ACUITY (zero vs. 5,6%; p = 0,01), e menores, pelo critério TIMI (zero vs. 7,4%; p < 0,01), também foram mais frequentes no grupo femoral. Os desfechos clínicos hospitalares óbito (0,9% vs. 5,6%; p = 0,06) e infarto não fatal (zero vs. 3,7%; p = 0,05) incidiram mais frequentemente nos pacientes tratados por via femoral. Conclusões: Em uma população não selecionada de pacientes com idade ≥ 70 anos, a intervenção coronária percutânea por via radial esteve associada à menor incidência de desfechos clínicos hospitalares...


Background: Studies demonstrate that radial artery access reduces the risk of vascular and bleeding complications associated to percutaneous coronary intervention. Our objective was to evaluate in-hospital results of the transradial approach in elderly patients undergoing percutaneous coronary intervention. Methods: Prospective registry including patient's ≥ 70 years of age; safety and efficacy endpoints were compared for the radial and femoral artery access groups. Results: We included 255 patients, 117 (52%) treated using the radial approach and 108 using the femoral approach. Except for age, the remaining clinical characteristics did not show differences between groups. Male patients prevailed (60%), 36.7% were diabetic and over one third were diagnosed with acute coronary syndrome. Angiographic and procedure-related variables did not show differences between groups. When vascular complication rates were compared only hematomas < 5 cm (5.1% vs. 17.6%; p < 0.01) were more prevalent with the femoral access. Major bleedings, according to the ACUITY criteria (zero vs. 5.6%; p = 0.01) and minor bleedings, according to the TIMI criteria (zero vs. 7.4%; p < 0.01), were also more frequent in the femoral group. In-hospital clinical endpoints, death (0.9% vs. 5.6%; p = 0.06) and non-fatal infarction (zero vs. 3.7%; p = 0.05) were more frequent in patients treated by the femoral access. Conclusions: In a non-selected patient population ≥ 70 years of age, percutaneous coronary intervention by radial access was associated to a lower incidence of in-hospital clinical endpoints, especially of bleeding events related to the vascular access route...


Assuntos
Humanos , Masculino , Feminino , Idoso , Idoso , Artéria Femoral/fisiologia , Artéria Femoral/lesões , Artéria Radial/fisiologia , Doenças Cardiovasculares/complicações , Doenças Cardiovasculares/fisiopatologia , Intervenção Coronária Percutânea/métodos , Aspirina/uso terapêutico , Dispositivos de Acesso Vascular/efeitos adversos , Dispositivos de Acesso Vascular/tendências , Hemorragia , Heparina/administração & dosagem , Análise Multivariada , Valor Preditivo dos Testes , Fatores de Risco , Interpretação Estatística de Dados , Síndrome Coronariana Aguda/complicações
13.
J Comput Surg ; 3(12): 1-23, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26702394

RESUMO

Development of more sophisticated implantable brain-machine interface (BMI) will require both interpretation of the neurophysiological data being measured and subsequent determination of signals to be delivered back to the brain. Computational models are the heart of the machine of BMI and therefore an essential tool in both of these processes. One approach is to utilize brain biomimetic models (BMMs) to develop and instantiate these algorithms. These then must be connected as hybrid systems in order to interface the BMM with in vivo data acquisition devices and prosthetic devices. The combined system then provides a test bed for neuroprosthetic rehabilitative solutions and medical devices for the repair and enhancement of damaged brain. We propose here a computer network-based design for this purpose, detailing its internal modules and data flows. We describe a prototype implementation of the design, enabling interaction between the Plexon Multichannel Acquisition Processor (MAP) server, a commercial tool to collect signals from microelectrodes implanted in a live subject and a BMM, a NEURON-based model of sensorimotor cortex capable of controlling a virtual arm. The prototype implementation supports an online mode for real-time simulations, as well as an offline mode for data analysis and simulations without real-time constraints, and provides binning operations to discretize continuous input to the BMM and filtering operations for dealing with noise. Evaluation demonstrated that the implementation successfully delivered monkey spiking activity to the BMM through LAN environments, respecting real-time constraints.

14.
Am J Hum Genet ; 92(4): 621-6, 2013 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-23541344

RESUMO

Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome to identify potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed KCTD1 missense mutations in each family tested. All of the mutations occurred in a KCTD1 region encoding a highly conserved bric-a-brac, tram track, and broad complex (BTB) domain that is required for transcriptional repressor activity. KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. The identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development.


Assuntos
Anormalidades Múltiplas/etiologia , Síndrome Brânquio-Otorrenal/etiologia , Displasia Ectodérmica/etiologia , Exoma/genética , Hipospadia/etiologia , Hipotonia Muscular/etiologia , Mutação de Sentido Incorreto/genética , Proteínas Repressoras/genética , Anormalidades Múltiplas/patologia , Sequência de Aminoácidos , Síndrome Brânquio-Otorrenal/patologia , Proteínas Correpressoras , Orelha Externa/anormalidades , Orelha Externa/patologia , Displasia Ectodérmica/patologia , Feminino , Humanos , Hipospadia/patologia , Masculino , Dados de Sequência Molecular , Hipotonia Muscular/patologia , Mamilos/anormalidades , Mamilos/patologia , Linhagem , Fenótipo , Estrutura Terciária de Proteína , Couro Cabeludo/anormalidades , Couro Cabeludo/patologia , Homologia de Sequência de Aminoácidos
15.
Rev. méd. Paraná ; 71(2): 7-12, jul.-dez. 2013.
Artigo em Português | LILACS-Express | LILACS | ID: biblio-1352487

RESUMO

As síndromes coronarianas agudas (SCA) são uma das principais causas de morte e internamento da população mundial. Sua mortalidade vem decrescendo, muito dependente de ferramentas utilizadas no atendimento pré e intra-hospitalar. Traçar um perfil da SCA e comparar a taxa de mortalidade de um serviço especializado no atendimento de emergências cardiológicas com as taxas de mortalidade da literatura. Estudo observacional, prospectivo e consecutivo em formato de registro em 180 pacientes no Hospital da Santa Casa de Misericórdia de Curitiba. Média de idade 61,8 anos ±11,3 e 65,2% do sexo masculino. A incidência de infarto agudo do miocárdio com supra de ST foi 33,5%, infarto agudo do miocárdio sem supra ST45% e angina instável 20,5%. A mortalidade total foi 8,9% em 1 e 12% em 6 meses. O escore TIMI médio foi 3,1±1,3 (6% de risco de morte, novo IAM ou nova revascularização em 1 mês) e escore GRACE 99±27,9 (4,4% de risco de morte em 6 meses).Conclusão:a mortalidade em pacientes com menos de 70 anos esteve acima do esperado em relação a literatura


Acute coronary syndromes (ACS) are a leading cause of death and hospitalization in the world. Its mortality has been decreasing dependent in the tools used pre and in-hospital. Delineate a ACS profile and compare the mortality rate between a specialized service on cardiologic emergency and the rates from the literature. Observational, prospective and consecutive trial registered 180 patients in Santa Casa de Misericordia Hospital at Curitiba. The average age was 61,8 years ±11,3 and 65,2% were men. The incidence of ST-segment elevation myocardial infarction was 33,5%, non-ST-elevation myocardial infarction 45% and unstable angina 20,5%. Total mortality was 8,9% in one month and 12% in 6 months. TIMI score average was 3,1±1,3 (6% risk of death, new MI or new revascularization in 1 month) and GRACE score 99±27,9 (4,4% risk of death in 6 months). The mortality in patients younger than 70 years old was higher than expected in relation to the literature

16.
IEEE Pulse ; 3(1): 57-9, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22344954

RESUMO

The debilitating effects of injury to the nervous system can have a profound effect on daily life activities of the injured person. In this article, we present a project overview in which we are utilizing computational and biological principles, along with simulation and experimentation, to create a realistic computational model of natural and injured sensorimotor control systems. Through the development of hybrid in silico/biological coadaptive symbiotic systems, the goal is to create new technologies that yield transformative neuroprosthetic rehabilitative solutions and a new test bed for the development of integrative medical devices for the repair and enhancement of biological systems.


Assuntos
Modelos Biológicos , Redes Neurais de Computação , Software , Animais , Humanos
17.
Inj Prev ; 18(6): 399-404, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22328634

RESUMO

OBJECTIVES: Child fatality review (CFR) is the systematic, interdisciplinary, multi-agency examination of paediatric deaths. While CFR findings may influence policies and reduce preventable fatalities, limited resources challenge accurate CFR data collection and prevention recommendations. Therefore, using technology to improve efficiency of reviews and access to remote participants could enhance the CFR experience. This project aimed to adapt a previously developed collaborative web-based appliance for remote, secure, collaborative review of crash investigations for use with CFR. METHODS: The user-centred design and evaluation process included: (1) key informant interviews and visits to CFR sessions to determine current practices, (2) an anonymous, qualitative, internet-based survey of 64 Pennsylvania CFR team leaders, (3) redesign and adaptation of the Telecenter appliance based on survey results and team feedback and (4) pilot-testing of the adapted Telecenter application at an actual local CFR. RESULTS: The qualitative informant interviews identified facilitators and barriers for adoption of the Telecenter. Facilitators included: team member training, improved communication and collaboration, more efficient reviews, and enhanced preventive efforts. Barriers identified included: concern for confidentiality and security, concern about accepting a novel CFR method, low interest in using technology, cost and maintenance. The survey of CFR team leaders identified themes for improving CFR team functioning including the need for evidence-based prevention resources, increased team training and efficient information gathering. The Telecenter was redesigned and adapted based on the information gathered and was successfully piloted for use with CFR. CONCLUSIONS: Telecenter met the design goal to improve information dissemination and identification of fatality prevention strategies for CFR.


Assuntos
Mortalidade da Criança , Coleta de Dados/normas , Serviços Preventivos de Saúde/normas , Telemedicina/normas , Criança , Comportamento Cooperativo , Coleta de Dados/métodos , Humanos , Projetos Piloto , Serviços Preventivos de Saúde/métodos , Pesquisa Qualitativa , Telemedicina/métodos , Estados Unidos
18.
Artigo em Inglês | MEDLINE | ID: mdl-21096000

RESUMO

The CyberWorkstation (CW) is an advanced cyber-infrastructure for Brain-Machine Interface (BMI) research. It allows the development, configuration and execution of BMI computational models using high-performance computing resources. The CW's concept is implemented using a software structure in which an "experiment engine" is used to coordinate all software modules needed to capture, communicate and process brain signals and motor-control commands. A generic BMI-model template, which specifies a common interface to the CW's experiment engine, and a common communication protocol enable easy addition, removal or replacement of models without disrupting system operation. This paper reviews the essential components of the CW and shows how templates can facilitate the processes of BMI model development, testing and incorporation into the CW. It also discusses the ongoing work towards making this process infrastructure independent.


Assuntos
Encéfalo/fisiologia , Simulação por Computador , Computadores , Sistemas Homem-Máquina , Humanos , Software
19.
Front Neuroeng ; 2: 17, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20126436

RESUMO

A Cyber-Workstation (CW) to study in vivo, real-time interactions between computational models and large-scale brain subsystems during behavioral experiments has been designed and implemented. The design philosophy seeks to directly link the in vivo neurophysiology laboratory with scalable computing resources to enable more sophisticated computational neuroscience investigation. The architecture designed here allows scientists to develop new models and integrate them with existing models (e.g. recursive least-squares regressor) by specifying appropriate connections in a block-diagram. Then, adaptive middleware transparently implements these user specifications using the full power of remote grid-computing hardware. In effect, the middleware deploys an on-demand and flexible neuroscience research test-bed to provide the neurophysiology laboratory extensive computational power from an outside source. The CW consolidates distributed software and hardware resources to support time-critical and/or resource-demanding computing during data collection from behaving animals. This power and flexibility is important as experimental and theoretical neuroscience evolves based on insights gained from data-intensive experiments, new technologies and engineering methodologies. This paper describes briefly the computational infrastructure and its most relevant components. Each component is discussed within a systematic process of setting up an in vivo, neuroscience experiment. Furthermore, a co-adaptive brain machine interface is implemented on the CW to illustrate how this integrated computational and experimental platform can be used to study systems neurophysiology and learning in a behavior task. We believe this implementation is also the first remote execution and adaptation of a brain-machine interface.

20.
Arq. bras. cardiol ; 93(5): e63-e78, nov. 2009. ilus, tab
Artigo em Inglês, Espanhol, Português | LILACS | ID: lil-536206

RESUMO

Descrevemos um caso típico de síndrome do balonamento apical em uma paciente octogenária com alteração eletrocardiográfica, de contratilidade do ventrículo esquerdo, e que apresentou recuperação da função ventricular. A paciente é portadora de rinite alérgica e fez uso excessivo de descongestionante nasal horas antes do episódio da dor.


We describe a typical case of apical ballooning syndrome in an octogenarian female patient with left ventricular wall motion abnormality on electrocardiography, whose ventricular function returned to normal. The patient has allergic rhinitis and had used nasal decongestant excessively a few hours prior to the episode of pain.


Describimos un caso típico de síndrome de abombamiento apical en una paciente octogenaria con alteración electrocardiográfica, de contractilidad del ventrículo izquierdo, y que presentó recuperación de la función ventricular. La paciente es portadora de rinitis alérgica y hace uso excesivo de descongestionante nasal horas antes del episodio del dolor.


Assuntos
Idoso de 80 Anos ou mais , Feminino , Humanos , Descongestionantes Nasais/efeitos adversos , Oximetazolina/efeitos adversos , Cardiomiopatia de Takotsubo/induzido quimicamente , Overdose de Drogas
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