Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 29
Filtrar
1.
Neuroimage ; 263: 119623, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36100172

RESUMO

Empirical observations of how labs conduct research indicate that the adoption rate of open practices for transparent, reproducible, and collaborative science remains in its infancy. This is at odds with the overwhelming evidence for the necessity of these practices and their benefits for individual researchers, scientific progress, and society in general. To date, information required for implementing open science practices throughout the different steps of a research project is scattered among many different sources. Even experienced researchers in the topic find it hard to navigate the ecosystem of tools and to make sustainable choices. Here, we provide an integrated overview of community-developed resources that can support collaborative, open, reproducible, replicable, robust and generalizable neuroimaging throughout the entire research cycle from inception to publication and across different neuroimaging modalities. We review tools and practices supporting study inception and planning, data acquisition, research data management, data processing and analysis, and research dissemination. An online version of this resource can be found at https://oreoni.github.io. We believe it will prove helpful for researchers and institutions to make a successful and sustainable move towards open and reproducible science and to eventually take an active role in its future development.


Assuntos
Ecossistema , Neuroimagem , Humanos , Neuroimagem/métodos , Projetos de Pesquisa
2.
Am J Hum Genet ; 105(1): 65-77, 2019 07 03.
Artigo em Inglês | MEDLINE | ID: mdl-31204010

RESUMO

The Genes for Good study uses social media to engage a large, diverse participant pool in genetics research and education. Health history and daily tracking surveys are administered through a Facebook application, and participants who complete a minimum number of surveys are mailed a saliva sample kit ("spit kit") to collect DNA for genotyping. As of March 2019, we engaged >80,000 individuals, sent spit kits to >32,000 individuals who met minimum participation requirements, and collected >27,000 spit kits. Participants come from all 50 states and include a diversity of ancestral backgrounds. Rates of important chronic health indicators are consistent with those estimated for the general U.S. population using more traditional study designs. However, our sample is younger and contains a greater percentage of females than the general population. As one means of verifying data quality, we have replicated genome-wide association studies (GWASs) for exemplar traits, such as asthma, diabetes, body mass index (BMI), and pigmentation. The flexible framework of the web application makes it relatively simple to add new questionnaires and for other researchers to collaborate. We anticipate that the study sample will continue to grow and that future analyses may further capitalize on the strengths of the longitudinal data in combination with genetic information.


Assuntos
Genes/genética , Marcadores Genéticos , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Projetos de Pesquisa , Mídias Sociais , Adolescente , Adulto , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/genética , Feminino , Humanos , Hipertensão/diagnóstico , Hipertensão/genética , Masculino , Pessoa de Meia-Idade , Saúde Pública , Inquéritos e Questionários , Adulto Jovem
3.
Proc Natl Acad Sci U S A ; 115(7): E1598-E1607, 2018 02 13.
Artigo em Inglês | MEDLINE | ID: mdl-29382744

RESUMO

The frontoparietal control network (FPCN) plays a central role in executive control. It has been predominantly viewed as a unitary domain general system. Here, we examined patterns of FPCN functional connectivity (FC) across multiple conditions of varying cognitive demands, to test for FPCN heterogeneity. We identified two distinct subsystems within the FPCN based on hierarchical clustering and machine learning classification analyses of within-FPCN FC patterns. These two FPCN subsystems exhibited distinct patterns of FC with the default network (DN) and the dorsal attention network (DAN). FPCNA exhibited stronger connectivity with the DN than the DAN, whereas FPCNB exhibited the opposite pattern. This twofold FPCN differentiation was observed across four independent datasets, across nine different conditions (rest and eight tasks), at the level of individual-participant data, as well as in meta-analytic coactivation patterns. Notably, the extent of FPCN differentiation varied across conditions, suggesting flexible adaptation to task demands. Finally, we used meta-analytic tools to identify several functional domains associated with the DN and DAN that differentially predict activation in the FPCN subsystems. These findings reveal a flexible and heterogeneous FPCN organization that may in part emerge from separable DN and DAN processing streams. We propose that FPCNA may be preferentially involved in the regulation of introspective processes, whereas FPCNB may be preferentially involved in the regulation of visuospatial perceptual attention.


Assuntos
Função Executiva , Lobo Frontal/fisiologia , Adulto , Atenção , Mapeamento Encefálico , Feminino , Lobo Frontal/química , Humanos , Imageamento por Ressonância Magnética , Masculino , Redes Neurais de Computação , Adulto Jovem
4.
Cereb Cortex ; 28(10): 3414-3428, 2018 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-28968758

RESUMO

Extensive fMRI study of human lateral frontal cortex (LFC) has yet to yield a consensus mapping between discrete anatomy and psychological states, partly due to the difficulty of inferring mental states from brain activity. Despite this, there have been few large-scale efforts to map the full range of psychological states across the entirety of LFC. Here, we used a data-driven approach to generate a comprehensive functional-anatomical mapping of LFC from 11 406 neuroimaging studies. We identified putatively separable LFC regions on the basis of whole-brain co-activation, revealing 14 clusters organized into 3 whole-brain networks. Next, we generated functional preference profiles by using multivariate classification to identify the psychological states that best predicted activity within each cluster. We observed large functional differences between networks, suggesting brain networks support distinct modes of processing. Within each network, however, we observed relatively low functional specificity, suggesting discrete psychological states are not strongly localized to individual regions; instead, our results are consistent with the view that individual LFC regions work as part of distributed networks to give rise to flexible behavior. Collectively, our results provide a comprehensive synthesis of a diverse neuroimaging literature using relatively unbiased data-driven methods.


Assuntos
Lobo Frontal/fisiologia , Mapeamento Encefálico , Bases de Dados Factuais , Lobo Frontal/diagnóstico por imagem , Humanos , Informática , Imageamento por Ressonância Magnética , Rede Nervosa/citologia , Rede Nervosa/diagnóstico por imagem , Vias Neurais/fisiologia , Neuroimagem
5.
J Neurosci ; 36(24): 6553-62, 2016 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-27307242

RESUMO

UNLABELLED: The functional organization of human medial frontal cortex (MFC) is a subject of intense study. Using fMRI, the MFC has been associated with diverse psychological processes, including motor function, cognitive control, affect, and social cognition. However, there have been few large-scale efforts to comprehensively map specific psychological functions to subregions of medial frontal anatomy. Here we applied a meta-analytic data-driven approach to nearly 10,000 fMRI studies to identify putatively separable regions of MFC and determine which psychological states preferentially recruit their activation. We identified regions at several spatial scales on the basis of meta-analytic coactivation, revealing three broad functional zones along a rostrocaudal axis composed of 2-4 smaller subregions each. Multivariate classification analyses aimed at identifying the psychological functions most strongly predictive of activity in each region revealed a tripartite division within MFC, with each zone displaying a relatively distinct functional signature. The posterior zone was associated preferentially with motor function, the middle zone with cognitive control, pain, and affect, and the anterior with reward, social processing, and episodic memory. Within each zone, the more fine-grained subregions showed distinct, but subtler, variations in psychological function. These results provide hypotheses about the functional organization of medial prefrontal cortex that can be tested explicitly in future studies. SIGNIFICANCE STATEMENT: Activation of medial frontal cortex in fMRI studies is associated with a wide range of psychological states ranging from cognitive control to pain. However, this high rate of activation makes it challenging to determine how these various processes are topologically organized across medial frontal anatomy. We conducted a meta-analysis across nearly 10,000 studies to comprehensively map psychological states to discrete subregions in medial frontal cortex using relatively unbiased data-driven methods. This approach revealed three distinct zones that differed substantially in function, each of which were further subdivided into 2-4 smaller subregions that showed additional functional variation. Each individual region was recruited by multiple psychological states, suggesting subregions of medial frontal cortex are functionally heterogeneous.


Assuntos
Mapeamento Encefálico , Lobo Frontal/fisiologia , Vias Neurais/fisiologia , Lobo Frontal/diagnóstico por imagem , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Oxigênio/sangue
7.
J Cogn Neurosci ; 26(11): 2490-502, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24742191

RESUMO

Individuals vary greatly in their ability to select one item or response when presented with a multitude of options. Here we investigate the neural underpinnings of these individual differences. Using magnetic resonance spectroscopy, we found that the balance of inhibitory versus excitatory neurotransmitters in pFC predicts the ability to select among task-relevant options in two language production tasks. The greater an individual's concentration of GABA relative to glutamate in the lateral pFC, the more quickly he or she could select a relevant word from among competing options. This outcome is consistent with our computational modeling of this task [Snyder, H. R., Hutchison, N., Nyhus, E., Curran, T., Banich, M. T., O'Reilly, R. C., et al. Neural inhibition enables selection during language processing. Proceedings of the National Academy of Sciences, U.S.A., 107, 16483-16488, 2010], which predicts that greater net inhibition in pFC increases the efficiency of resolving competition among task-relevant options. Moreover, the association with the GABA/glutamate ratio was specific to selection and was not observed for executive function ability in general. These findings are the first to link the balance of excitatory and inhibitory neural transmission in pFC to specific aspects of executive function.


Assuntos
Função Executiva/fisiologia , Ácido Glutâmico/metabolismo , Individualidade , Reconhecimento Visual de Modelos/fisiologia , Córtex Pré-Frontal/fisiologia , Ácido gama-Aminobutírico/metabolismo , Cognição/fisiologia , Feminino , Humanos , Espectroscopia de Ressonância Magnética , Masculino , Testes Neuropsicológicos , Estimulação Luminosa , Vocabulário , Adulto Jovem
8.
J Exp Psychol Gen ; 153(1): 70-85, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37668562

RESUMO

Executive functions (EFs) are cognitive functions that help direct goal-related behavior. EFs are usually measured via behavioral tasks assessed in highly controlled laboratory settings under the supervision of a research assistant. Online versions of EF tasks are an increasingly popular alternative to in-lab testing. However, researchers do not have the same control over the testing environment during online EF assessments. To assess the extent to which EFs assessed in-lab and online are related, we used data from the Colorado Online Twin Study (CoTwins; 887 individual twins aged 13.98-19.05) and constructed an Lab Common EF factor and an Online Common EF factor from four EF tasks assessed in-lab and online. The Lab Common and Online Common EF factors were genetically identical (rA = 1.00) but phenotypically separable (r = .77, 95% confidence interval [0.59, 0.94]) indicating that these EF factors have the same genetic underpinnings but may be differentially influenced by environmental factors. We examined phenotypic, genetic, and environmental correlations between the EF factors and a general cognitive ability factor (g) assessed in the lab and found similar relationships between Lab Common EF and g and Online Common EF and g. Overall, these results suggest that Common EF factors assessed in different contexts are highly related to each other and similarly related to other cognitive outcomes. These findings indicate that online task-based EF assessments could be a viable strategy for increasing sample sizes in large-scale studies, particularly genetically informed studies. (PsycInfo Database Record (c) 2024 APA, all rights reserved).


Assuntos
Cognição , Função Executiva , Humanos , Gêmeos/genética
9.
ArXiv ; 2024 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-37744469

RESUMO

The Brain Imaging Data Structure (BIDS) is a community-driven standard for the organization of data and metadata from a growing range of neuroscience modalities. This paper is meant as a history of how the standard has developed and grown over time. We outline the principles behind the project, the mechanisms by which it has been extended, and some of the challenges being addressed as it evolves. We also discuss the lessons learned through the project, with the aim of enabling researchers in other domains to learn from the success of BIDS.

10.
Imaging Neurosci (Camb) ; 2: 1-19, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-39308505

RESUMO

The Brain Imaging Data Structure (BIDS) is a community-driven standard for the organization of data and metadata from a growing range of neuroscience modalities. This paper is meant as a history of how the standard has developed and grown over time. We outline the principles behind the project, the mechanisms by which it has been extended, and some of the challenges being addressed as it evolves. We also discuss the lessons learned through the project, with the aim of enabling researchers in other domains to learn from the success of BIDS.

11.
bioRxiv ; 2023 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-37577598

RESUMO

Macroscale gradients have emerged as a central principle for understanding functional brain organization. Previous studies have demonstrated that a principal gradient of connectivity in the human brain exists, with unimodal primary sensorimotor regions situated at one end and transmodal regions associated with the default mode network and representative of abstract functioning at the other. The functional significance and interpretation of macroscale gradients remains a central topic of discussion in the neuroimaging community, with some studies demonstrating that gradients may be described using meta-analytic functional decoding techniques. However, additional methodological development is necessary to fully leverage available meta-analytic methods and resources and quantitatively evaluate their relative performance. Here, we conducted a comprehensive series of analyses to investigate and improve the framework of data-driven, meta-analytic methods, thereby establishing a principled approach for gradient segmentation and functional decoding. We found that a two-segment solution determined by a k-means segmentation approach and an LDA-based meta-analysis combined with the NeuroQuery database was the optimal combination of methods for decoding functional connectivity gradients. Finally, we proposed a method for decoding additional components of the gradient decomposition. The current work aims to provide recommendations on best practices and flexible methods for gradient-based functional decoding of fMRI data.

12.
Arch Cardiol Mex ; 92(3): 342-348, 2022 07 01.
Artigo em Espanhol | MEDLINE | ID: mdl-34619749

RESUMO

OBJETIVES: To assess if patients with Chagasic heart disease (CHD) received effective automatic implantable defibrillator (AID) shocks earlier than patients with ischemic heart disease (IHD). METHODS: Retrospective cohort of patients with CHD and IHD who received an implantable cardioverter defibrillator (ICD) between 2009 and 2018, in a tertiary hospital. We evaluated the time between the implant of ICD and the first effective shock in patients with CHD and compared it with the IHD control population. RESULTS: We included a total of 64 patients, 20 with CHD and 44 with IHD. CHD patients presented earlier an effective shock than patients with IHD during the first year (hazard ratio [HR]: 8.4; 95% confidence interval [95%CI]: 2.09-34.02; p = 0.0027), and at three years (HR: 4.61; 95%CI: 1.51-14.07; p = 0.0072). 100% of CHD patients who received the ICD as secondary prevention of sudden cardiac death presented an effective shock during the first 26 months of follow-up. CONCLUSIONS: Patients with CHD received effective ICD shocks earlier than the IHD patients. All patients with CHD and ICD as secondary prevention had an appropriate ICD shock at short term, representing the highest risk population, and supporting the indication of the device in a setting where randomized clinical trials are lacking.


OBJETIVOS: Determinar si los pacientes con cardiopatía chagásica (CCh) presentaron choques apropiados del desfibrilador automático implantable (DAI) de manera más precoz que los pacientes con cardiopatía isquémica (CI). MÉTODOS: Estudio de cohorte retrospectivo que incluyó los pacientes con CCh y CI en quienes se implantó un DAI entre los años 2009 y 2018 en un hospital de alta complejidad. El seguimiento se realizó hasta los 36 meses, evaluándose el momento del primer choque apropiado del dispositivo. RESULTADOS: Se incluyeron 64 pacientes, 20 con CCh y 44 con CI. Se observó que una mayor proporción de pacientes con CCh presentaron choques apropiados durante el primer año (hazard ratio [HR]: 8.4; intervalo de confianza del 95% [IC95%]: 2.09-34.02; p = 0.0027) y a 3 años (HR: 4.61; IC95%: 1.51- 14.07; p = 0.0072). El 100% de la población con CCh e implante del DAI como prevención secundaria de muerte súbita presentaron choques apropiados durante los primeros 26 meses de seguimiento. CONCLUSIONES: Los pacientes con CCh presentaron choques apropiados del DAI de manera más precoz que los pacientes con CI. Todos los pacientes con CCh y DAI como prevención secundaria presentaron choques apropiados, representando una población de mayor riesgo. Esta información apoya la indicación del DAI en estos pacientes a pesar de la escasa evidencia en ensayos aleatorizados.


Assuntos
Desfibriladores Implantáveis , Isquemia Miocárdica , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/prevenção & controle , Humanos , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento
13.
Elife ; 112022 08 30.
Artigo em Inglês | MEDLINE | ID: mdl-36040302

RESUMO

Functional magnetic resonance imaging (fMRI) has revolutionized cognitive neuroscience, but methodological barriers limit the generalizability of findings from the lab to the real world. Here, we present Neuroscout, an end-to-end platform for analysis of naturalistic fMRI data designed to facilitate the adoption of robust and generalizable research practices. Neuroscout leverages state-of-the-art machine learning models to automatically annotate stimuli from dozens of fMRI studies using naturalistic stimuli-such as movies and narratives-allowing researchers to easily test neuroscientific hypotheses across multiple ecologically-valid datasets. In addition, Neuroscout builds on a robust ecosystem of open tools and standards to provide an easy-to-use analysis builder and a fully automated execution engine that reduce the burden of reproducible research. Through a series of meta-analytic case studies, we validate the automatic feature extraction approach and demonstrate its potential to support more robust fMRI research. Owing to its ease of use and a high degree of automation, Neuroscout makes it possible to overcome modeling challenges commonly arising in naturalistic analysis and to easily scale analyses within and across datasets, democratizing generalizable fMRI research.


Assuntos
Ecossistema , Imageamento por Ressonância Magnética , Algoritmos , Encéfalo/diagnóstico por imagem , Mapeamento Encefálico/métodos , Aprendizado de Máquina , Imageamento por Ressonância Magnética/métodos
14.
CVIR Endovasc ; 4(1): 19, 2021 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-33512591

RESUMO

BACKGROUND: Although endovascular treatment of the thoracic aorta (TEVAR) has become an elective procedure for treatment of complicated type B aortic dissection, its role in treating post dissection thoraco-abdominal aortic aneurysm (TAAA), is still limited. This is a case of aortic vascular disease, which reports the use of a new endovascular device. CASE PRESENTATION: We present the case of a 62 year old male patient with a history of hypertension, active smoker, who presented penetrating descending thoracic aortic ulcer in the setting of a chronic abdominal aortic dissection. The patient was treated using a new stent graft capable of in situ fenestration that allowed crossing the stent-graft membrane, implanting a covered stent to exclude the re-entry at the level of the left renal artery and redirecting the blood flow through the true lumen. CONCLUSIONS: This case report demonstrates the feasibility of a novel stent-graft concept. Larger studies with longer follow-up are essential to fully evaluate the safety and effectiveness of this new design.

15.
Gigascience ; 10(8)2021 08 20.
Artigo em Inglês | MEDLINE | ID: mdl-34414422

RESUMO

As the global health crisis unfolded, many academic conferences moved online in 2020. This move has been hailed as a positive step towards inclusivity in its attenuation of economic, physical, and legal barriers and effectively enabled many individuals from groups that have traditionally been underrepresented to join and participate. A number of studies have outlined how moving online made it possible to gather a more global community and has increased opportunities for individuals with various constraints, e.g., caregiving responsibilities. Yet, the mere existence of online conferences is no guarantee that everyone can attend and participate meaningfully. In fact, many elements of an online conference are still significant barriers to truly diverse participation: the tools used can be inaccessible for some individuals; the scheduling choices can favour some geographical locations; the set-up of the conference can provide more visibility to well-established researchers and reduce opportunities for early-career researchers. While acknowledging the benefits of an online setting, especially for individuals who have traditionally been underrepresented or excluded, we recognize that fostering social justice requires inclusivity to actively be centered in every aspect of online conference design. Here, we draw from the literature and from our own experiences to identify practices that purposefully encourage a diverse community to attend, participate in, and lead online conferences. Reflecting on how to design more inclusive online events is especially important as multiple scientific organizations have announced that they will continue offering an online version of their event when in-person conferences can resume.

16.
J Endovasc Ther ; 17(2): 261-5, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20426652

RESUMO

PURPOSE: To report the use of a branched, balloon-deployable stent-graft to treat abdominal aortic aneurysm (AAA) in the setting of a solitary kidney. CASE REPORT: A 72-year-old man with a solitary intrapelvic kidney and multiple comorbid conditions was diagnosed with an asymptomatic 5.3-cm abdominal aortic aneurysm (AAA); the renal artery emerged from the aneurysm sac. A customized branched, balloon-deployable, aortomonoiliac stent-graft was utilized to exclude the AAA and preserve perfusion to the single renal artery. A synthetic bypass was then implanted to restore perfusion to the contralateral limb. The diameter of the aneurysm decreased from 5.3 to 2.7 cm at 18 months. The renal artery was patent without evidence of stenosis; renal function was normal. CONCLUSION: The deployment of a novel branched stent-graft represents an interesting alternative approach to the treatment of a juxtarenal aneurysm.


Assuntos
Angioplastia com Balão , Aneurisma da Aorta Abdominal/cirurgia , Prótese Vascular , Nefrectomia , Stents , Idoso , Aneurisma da Aorta Abdominal/complicações , Aneurisma da Aorta Abdominal/diagnóstico , Implante de Prótese Vascular , Humanos , Artéria Ilíaca , Masculino , Desenho de Prótese
17.
Nat Protoc ; 15(7): 2186-2202, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32514178

RESUMO

Functional magnetic resonance imaging (fMRI) is a standard tool to investigate the neural correlates of cognition. fMRI noninvasively measures brain activity, allowing identification of patterns evoked by tasks performed during scanning. Despite the long history of this technique, the idiosyncrasies of each dataset have led to the use of ad-hoc preprocessing protocols customized for nearly every different study. This approach is time consuming, error prone and unsuitable for combining datasets from many sources. Here we showcase fMRIPrep (http://fmriprep.org), a robust tool to prepare human fMRI data for statistical analysis. This software instrument addresses the reproducibility concerns of the established protocols for fMRI preprocessing. By leveraging the Brain Imaging Data Structure to standardize both the input datasets (MRI data as stored by the scanner) and the outputs (data ready for modeling and analysis), fMRIPrep is capable of preprocessing a diversity of datasets without manual intervention. In support of the growing popularity of fMRIPrep, this protocol describes how to integrate the tool in a task-based fMRI investigation workflow.


Assuntos
Processamento de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética , Animais , Encéfalo/diagnóstico por imagem , Humanos , Processamento de Imagem Assistida por Computador/normas , Padrões de Referência , Descanso/fisiologia , Fluxo de Trabalho
18.
Polymers (Basel) ; 11(12)2019 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-31817694

RESUMO

This research focuses on developing a novel ultra high molecular weight polyethylene (UHMWPE) material reinforced with titanium dioxide (TiO 2 ) nanoparticles for producing craniofacial prostheses via an incremental sheet forming process (SPIF). First, UHMWPE-TiO 2 nanocomposite sheets were produced using incipient wetting and the compression molding process by considering different concentrations of TiO 2 nanoparticles. Then, the influence that the compression molding fabrication process has on the crystallinity and structural properties of the produced sample sheets was investigated. Experimental characterizations via scanning electron microscopy (SEM), differential scanning calorimetry (DSC), X-ray diffraction (XRD), Fourier transform infrared (FT-IR), tensile mechanical testing, and live/dead cell viability assays provided data that show an enhancement of the physical, mechanical, and biological properties. Finally, modifications on the nanocomposite material properties due to the SPIF manufacturing processes of a craniofacial prosthesis are addressed.

19.
Rev Med Inst Mex Seguro Soc ; 46(1): 55-62, 2008.
Artigo em Espanhol | MEDLINE | ID: mdl-18647572

RESUMO

INTRODUCTION: the results of the laboratory test for 2N von Willebrand disease (2N vWD) are indistinguishable from those of light or moderate haemophilia A, until the technique that evaluates the operation of the vWF: FVIII binding is performed. OBJECTIVE: to determine the prevalence of type 2N vWD in patients diagnosed with light or moderate haemophilia A and type 1 vWD. MATERIAL AND METHODS: twelve healthy donors and twenty-five patients diagnosed with haemophilia A (a carrier) and five suspected of type 1 vWD were included in the study. The common tests of haemostasis for this condition plus the technique of the relationship of the vWF: FVIII recombinant (F VIIIr) binding was performed. RESULTS: the laboratory results of the 30 patients were concordant with the previous diagnosis. However, three with a previous diagnosis of haemophilia A demonstrated a rate of relationship of the vWF: F VIIIr binding lower than the reference interval obtained from the healthy donors, which means it corresponds to 2N vWD. CONCLUSIONS: the screening method of 2N vWD employed in this study allowed to identify for first time in Mexico, the first cases of this variant with a prevalence of 10%. In our country, this method will allow to establishing accurate diagnosis of 2N vWD and to providing specific treatments.


Assuntos
Doenças de von Willebrand/epidemiologia , Adolescente , Adulto , Doadores de Sangue , Criança , Estudos Transversais , Feminino , Hemofilia A/sangue , Hemofilia A/diagnóstico , Hemofilia A/epidemiologia , Humanos , Masculino , México/epidemiologia , Mutação/genética , Prevalência , Doenças de von Willebrand/sangue , Doenças de von Willebrand/diagnóstico , Fator de von Willebrand/genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA