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1.
J Dance Med Sci ; 27(2): 87-91, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37264588

RESUMO

INTRODUCTION: Ballet landings produce accelerations that are transmitted proximally up the kinetic chain. If overly excessive/repetitive, these "shocks" to the lower body may contribute to overuse injury. The shocks imposed by different ballet maneuvers are largely unknown at this time, making it difficult to appreciate the physical stresses associated with different maneuvers. Therefore, the purpose of this study was to compare the impact accelerations associated with different common ballet maneuvers. METHODS: As part of this study, 11 adolescent ballet dancers performed 9 different common ballet maneuvers: (1) glissade, (2) pas de chat, (3) petit jeté, (4) petit assemblé, (5) grand assemblé, (6) grand jeté, (7) saut de chat, (8) changement, and (9) entrechat quatre. An inertial sensor secured to the pelvis was used to record the peak resultant acceleration during landings ("impact acceleration"). A Friedman test was conducted to compare impact accelerations across the maneuvers and Wilcoxon signed-rank tests were conducted as pairwise comparisons. RESULTS: The omnibus test indicated that there were differences in impact accelerations among the maneuvers (P < .001). In general, the glissade (2.08 ± 0.47g), pes de chat (2.33 ± 0.23g), petit jeté (2.42 ± 0.29g), and petite assemblé (2.54 ± 0.47g) tended to be the lower impact maneuvers; the grand assemblé (2.90 ± 0.41g), grand jeté (2.99 ± 0.33g), and saut de chat (3.13 ± 0.54g) tended to be the more moderate impact maneuvers; and the changement (4.10 ± 0.48g) and entrechat quatre (4.32 ± 0.52g) tended to be higher impact maneuvers. CONCLUSION: These findings may provide clinicians and dance instructors with greater insight regarding the physical stresses imposed by different ballet maneuvers.


Assuntos
Dança , Adolescente , Humanos , Dança/lesões , Projetos Piloto , Equilíbrio Postural , Estresse Mecânico
2.
PLoS One ; 17(10): e0273402, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36264932

RESUMO

BACKGROUND: The pathophysiology of COVID-19 remains poorly understood. We aimed to estimate the contribution of intrapulmonary shunting and ventilation-to-perfusion (VA/Q) mismatch using a mathematical model to construct oxygen-haemoglobin dissociation curves (ODCs). METHODS: ODCs were constructed using transcutaneous pulse oximetry at two different fractions of inspired oxygen (FiO2). 199 patients were included from two large district general hospitals in the South East of England from 1st to 14th January 2021. The study was supported by the National Institute of Health Research (NIHR) Clinical Research Network. RESULTS: Overall mortality was 29%. Mean age was 68.2 years (SEM 1·2) with 46% female. Median shunt on admission was 17% (IQR 8-24.5); VA/Q was 0.61 (IQR 0.52-0.73). Shunt was 37.5% higher in deaths (median 22%, IQR 9-29) compared to survivors (16%, 8-21; p = 0.0088) and was a predictor of mortality (OR 1.04; 95% CI 1.01-1.07). Admission oxygen saturations were more strongly predictive of mortality (OR 0.91, 95% CI 0.87-0.96). There was no difference in VA/Q mismatch between deaths (0.60; IQR 0.50-0.73) and survivors (0.61; IQR 0.52-0.73; p = 0.63) and it was not predictive of mortality (OR 0.68; 95% CI 0.18-2.52; p = 0.55). Shunt negatively correlated with admission oxygen saturation (R -0.533; p<0.0001) whereas VA/Q was not (R 0.1137; p = 0.12). INTERPRETATION: Shunt, not VA/Q mismatch, was associated with worsening hypoxia, though calculating shunt was not of prognostic value. This study adds to our understanding of the pathophysiology of hypoxaemia in COVID-19. Our inexpensive and reliable technique may provide further insights into the pathophysiology of hypoxia in other respiratory diseases.


Assuntos
COVID-19 , Pneumopatias , Humanos , Feminino , Idoso , Masculino , Relação Ventilação-Perfusão/fisiologia , Hipóxia , Oximetria/métodos , Oxigênio/fisiologia
3.
Data Brief ; 44: 108494, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35990915

RESUMO

Data in this article are related to the research article "The global distribution and morphologic characteristics of fan-shaped sedimentary landforms on Mars". We used globally available image and topographic data to document the location of every fan-shaped sedimentary landform on the surface of Mars. We mapped fan outlines and associated drainage basins and collected a number of morphologic metrics. These data can be used as a boundary condition for studies of global scale studies of Mars, including climate and hydrologic modeling. Data files publicly available on Figshare include point shapefile of fan apices, and polygon shapefiles of fan outlines and drainage basins.

4.
Sci Adv ; 8(21): eabo5894, 2022 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-35613275

RESUMO

Early Mars had rivers, but the cause of Mars's wet-to-dry transition remains unknown. Past climate on Mars can be probed using the spatial distribution of climate-sensitive landforms. We analyzed global databases of water-worked landforms and identified changes in the spatial distribution of rivers over time. These changes are simply explained by comparison to a simplified meltwater model driven by an ensemble of global climate model simulations, as the result of ≳10 K global cooling, from global average surface temperature [Formula: see text] ≥ 268 K to [Formula: see text] ~ 258 K, due to a weaker greenhouse effect. In other words, river-forming climates on early Mars were warm and wet first, and cold and wet later. Unexpectedly, analysis of the greenhouse effect within our ensemble of global climate model simulations suggests that this shift was primarily driven by waning non-CO2 radiative forcing, and not changes in CO2 radiative forcing.

5.
ACS Appl Mater Interfaces ; 13(51): 61620-61628, 2021 Dec 29.
Artigo em Inglês | MEDLINE | ID: mdl-34908405

RESUMO

Natural and synthetic polymeric fibers are used extensively in making fabrics for a variety of civilian and military applications. Due to the durability and comfort, nyco, a 50-50% blend of nylon 66 and cotton, is used as the material of choice in many applications including military uniforms. This fabric is flammable due to the presence of cotton and nylon but has good mechanical properties and is comfortable to wear. Here, we report a novel surface functionalization method that utilizes a synergistic combination of bio-based materials, tannic acid (TA) and phytic acid (PA), to impart flame-retardant (FR) properties to the nyco fabric. TA and PA were sequentially attached to nylon and cotton fibers through hydrogen bonding interactions and phosphorylation, respectively. The surface functionalization of the treated fabrics was confirmed using Fourier-transform infrared spectroscopy. Thermogravimetric analysis, microscale combustion calorimetry, cone calorimetry, and vertical flame testing were employed to study the effect of the functionalization on the thermal stability and flammability of the nyco fabric. Though reasonable durable functionalization is observed from elemental analysis, it is not enough to impart wash-durable FR treatment. These results indicate that flame retardancy is enabled through the enhanced char formation provided by the combination of TA and PA. The TA-PA system applied to nyco shows great promise as a bio-based FR system. This study for the first time also provides evidence for the selectivity of TA in imparting FR characteristics for nylon and PA in imparting FR properties for cotton. The combination of TA and PA provides promising FR characteristics to nyco.

6.
Nature ; 597(7878): 645-649, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34588670

RESUMO

The surface environment of early Mars had an active hydrologic cycle, including flowing liquid water that carved river valleys1-3 and filled lake basins4-6. Over 200 of these lake basins filled with sufficient water to breach the confining topography4,6, causing catastrophic flooding and incision of outlet canyons7-10. Much past work has recognized the local importance of lake breach floods on Mars for rapidly incising large valleys7-12; however, on a global scale, valley systems have often been interpreted as recording more persistent fluvial erosion linked to a distributed Martian hydrologic cycle1-3,13-16. Here, we demonstrate the global importance of lake breach flooding, and find that it was responsible for eroding at least 24% of the volume of incised valleys on early Mars, despite representing only approximately 3% of total valley length. We conclude that lake breach floods were a major geomorphic process responsible for valley incision on early Mars, which in turn influenced the topographic form of many Martian valley systems and the broader landscape evolution of the cratered highlands. Our results indicate that the importance of lake breach floods should be considered when reconstructing the formative conditions for Martian valley systems.

7.
Respir Res ; 22(1): 64, 2021 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-33622362

RESUMO

BACKGROUND: Beta-blockers are associated with reduced mortality in patients with cardiovascular disease but are often under prescribed in those with concomitant COPD, due to concerns regarding respiratory side-effects. We investigated the effects of beta-blockers on outcomes in patients with COPD and explored within-class differences between different agents. METHODS: We searched the Cochrane Central Register of Controlled Trials, Embase, Cumulative Index to Nursing and Allied Health Literature (CINAHL) and Medline for observational studies and randomized controlled trials (RCTs) investigating the effects of beta-blocker exposure versus no exposure or placebo, in patients with COPD, with and without cardiovascular indications. A meta-analysis was performed to assess the association of beta-blocker therapy with acute exacerbations of COPD (AECOPD), and a network meta-analysis was conducted to investigate the effects of individual beta-blockers on FEV1. Mortality, all-cause hospitalization, and quality of life outcomes were narratively synthesized. RESULTS: We included 23 observational studies and 14 RCTs. In pooled observational data, beta-blocker therapy was associated with an overall reduced risk of AECOPD versus no therapy (HR 0.77, 95%CI 0.70 to 0.85). Among individual beta-blockers, only propranolol was associated with a relative reduction in FEV1 versus placebo, among 199 patients evaluated in RCTs. Narrative syntheses on mortality, all-cause hospitalization and quality of life outcomes indicated a high degree of heterogeneity in study design and patient characteristics but suggested no detrimental effects of beta-blocker therapy on these outcomes. CONCLUSION: The class effect of beta-blockers remains generally positive in patients with COPD. Reduced rates of AECOPD, mortality, and improved quality of life were identified in observational studies, while propranolol was the only agent associated with a deterioration of lung function in RCTs.


Assuntos
Antagonistas Adrenérgicos beta/uso terapêutico , Doença Pulmonar Obstrutiva Crônica/tratamento farmacológico , Progressão da Doença , Humanos
8.
Lancet Oncol ; 22(1): e7-e17, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33387511

RESUMO

Breast cancer brain metastases are an increasing clinical problem. Studies have shown that brain metastases from breast cancer have a distinct genomic landscape to that of the primary tumour, including the presence of mutations that are absent in the primary breast tumour. In this Review, we aim to review and evaluate genomic sequencing data for breast cancer brain metastases by searching PubMed, Embase, and Scopus for relevant articles published in English between database inception and May 30, 2020. Extracted information includes data for mutations, receptor status (eg, immunohistochemistry and Prediction Analysis of Microarray 50 [PAM50]), and copy number alterations from published manuscripts and supplementary materials. Of the 431 articles returned by the database search, 13 (3%) breast cancer brain metastases sequencing studies, comprising 164 patients with sequenced brain metastases, met all our inclusion criteria. We identified 268 mutated genes that were present in two or more breast cancer brain metastases samples. Of these 268 genes, 22 (8%) were mutated in five or more patients and pathway enrichment analysis showed their involvement in breast cancer-related signalling pathways, regulation of gene transcription, cell cycle, and DNA repair. Actionability analysis using the Drug Gene Interaction Database revealed that 15 (68%) of these 22 genes are actionable drug targets. In addition, immunohistochemistry and PAM50 data showed receptor discordancy between primary breast cancers and their paired brain metastases. This systematic review provides a detailed overview of the most commonly mutated genes identified in samples of breast cancer brain metastases and their clinical relevance. These data highlight the differences between primary breast cancers and brain metastases and the importance of acquiring and analysing brain metastasis samples for further study.


Assuntos
Biomarcadores Tumorais/genética , Neoplasias Encefálicas/genética , Neoplasias da Mama/genética , Variações do Número de Cópias de DNA , Dosagem de Genes , Mutação , Transdução de Sinais/genética , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/secundário , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/patologia , Feminino , Redes Reguladoras de Genes , Predisposição Genética para Doença , Humanos , Terapia de Alvo Molecular , Fenótipo , Medicina de Precisão , Transdução de Sinais/efeitos dos fármacos
9.
Neuropsychologia ; 136: 107265, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31738940

RESUMO

Congenital mirror movements (CMMs) have been traditionally thought to occur due to the corticospinal tracts that project abnormally to both sides of the body. More recently, it has been suggested that both brain hemispheres are activated during intended unilateral movements due to deficient transcallosal inhibition, leading to mirror movements on the unintended side as well. To further understand the mechanisms underlying CMMs, we examined the pattern of interlimb transfer following visuomotor adaptation in 'DB', an individual with CMMs. DB's CMMs were confirmed by detecting EMG signals in both arms during intended unilateral movements, and also when transcranial magnetic stimulation (TMS) was applied to the motor cortex. Following that, DB performed reaching movements with the left arm under a visuomotor condition in which the visual display was rotated 30° counterclockwise about the start circle, and then with the right arm under the same (experiment 1) or opposing (experiment 2) rotation condition. DB's performances were compared with the data from control subjects. In both experiments, DB was able to adapt to the rotation with either arm; however, movement errors at the beginning of right-arm adaptation did not differ from those at the beginning of left-arm adaptation, indicating no transfer. These transfer patterns differ from those observed in controls, who demonstrated substantial transfer when the rotation directions were the same between the arms, but no transfer when they were opposite. These findings suggest that in DB, both hemispheres are activated during unilateral movements, but interhemispheric communication is impaired, thus resulting in mirror movements on the involuntary side.


Assuntos
Adaptação Fisiológica/fisiologia , Braço/fisiopatologia , Lateralidade Funcional/fisiologia , Atividade Motora/fisiologia , Córtex Motor/fisiopatologia , Transtornos dos Movimentos/fisiopatologia , Desempenho Psicomotor/fisiologia , Transferência de Experiência/fisiologia , Adolescente , Adulto , Humanos , Masculino , Transtornos dos Movimentos/congênito , Estimulação Magnética Transcraniana , Adulto Jovem
10.
Sci Data ; 6(1): 36, 2019 04 23.
Artigo em Inglês | MEDLINE | ID: mdl-31015567

RESUMO

Comprehensive analysis of molecular pathology requires a collection of reference samples representing normal tissues from healthy donors. For the available limited collections of normal tissues from postmortal donors, there is a problem of data incompatibility, as different datasets generated using different experimental platforms often cannot be merged in a single panel. Here, we constructed and deposited the gene expression database of normal human tissues based on uniformly screened original sequencing data. In total, 142 solid tissue samples representing 20 organs were taken from post-mortal human healthy donors of different age killed in road accidents no later than 36 hours after death. Blood samples were taken from 17 healthy volunteers. We then compared them with the 758 transcriptomic profiles taken from the other databases. We found that overall 463 biosamples showed tissue-specific rather than platform- or database-specific clustering and could be aggregated in a single database termed Oncobox Atlas of Normal Tissue Expression (ANTE). Our data will be useful to all those working with the analysis of human gene expression.


Assuntos
Bases de Dados Genéticas , Especificidade de Órgãos/genética , Análise de Sequência de RNA , Transcriptoma , Perfilação da Expressão Gênica , Humanos
11.
Pac Symp Biocomput ; 24: 220-223, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30864324

RESUMO

For the 2019 Pacific Symposium on Biocomputing's session on precision medicine, we present new research on computational techniques in range of areas including data curation, whole genome analysis, transcriptomics, microbiome profiling, EHR data-mining, and histological image processing.

12.
J Biomech ; 86: 125-131, 2019 03 27.
Artigo em Inglês | MEDLINE | ID: mdl-30777341

RESUMO

Non-contact anterior cruciate ligament (ACL) injuries account for 70% of all ACL injuries, and can lead to missed time from activity for athletes and a predisposition for knee osteoarthritis. Prior research has shown that athletes who land in a stiff manner, with larger internal knee adduction and extension moments, are at greater risk for an ACL injury. A three-dimensional accelerometer placed at the tibial tuberosity may prove to be a low-cost means of assessing these risk factors. The primary purpose of this study was to compare tibial accelerations during drop landings with kinematic and kinetic risk factors for ACL injury measured with three-dimensional motion capture. The secondary purpose of this study was to compare these measures between soft and stiff landings. Participants were instructed to land bilaterally in preferred, soft, and stiff manners. Peak knee flexion decreased significantly from soft to stiff landings. Peak internal knee extension moment, peak anterior/posterior knee acceleration, and peak medial knee acceleration all increased significantly from soft to stiff landings. No associations were found between landing condition and either frontal plane knee angle at maximum vertical ground reaction force or peak internal knee adduction moment. Significant positive associations between kinetics and accelerations were found only in the sagittal plane. As such, while a three-dimensional accelerometer could discern between soft and stiff landings in both planes, it may be better suited to predict kinetic risk factors in the sagittal plane.


Assuntos
Acelerometria/instrumentação , Articulação do Joelho/fisiologia , Monitorização Fisiológica/instrumentação , Dispositivos Eletrônicos Vestíveis/normas , Adulto , Fenômenos Biomecânicos , Feminino , Humanos , Cinética , Masculino , Fatores de Risco
14.
J Appl Biomech ; 34(5): 414-418, 2018 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-29809103

RESUMO

Lower-extremity musculoskeletal injuries are common in sports such as basketball and soccer. Athletes competing in sports of this nature must maneuver in response to the actions of their teammates, opponents, etc. This limits their ability to preplan movements. The purpose of this study was to compare impact accelerations during preplanned versus unplanned lateral cutting. A total of 30 subjects (15 males and 15 females) performed preplanned and unplanned cuts while the authors analyzed impact accelerations using an accelerometer secured to their tibia. For the preplanned condition, subjects were aware of the movement to perform before initiating a trial. For the unplanned condition, subjects initiated their movement and then reacted to the illumination of one of 3 visual stimuli which dictated whether they would cut, land, or land-and-jump. A mixed-model analysis of variance with a between factor of sex (male and female) and a within factor of condition (preplanned and unplanned) was used to analyze the magnitude and variability of the impact accelerations for the cutting trials. Both males and females demonstrated higher impact accelerations (P = .01) and a trend toward greater intertrial variability (P = .07) for the unplanned cutting trials (vs preplanned cuts). Unplanned cutting may place greater demands on the musculoskeletal system.


Assuntos
Fenômenos Biomecânicos/fisiologia , Tomada de Decisões , Esportes/fisiologia , Tíbia/fisiologia , Aceleração , Adolescente , Adulto , Feminino , Humanos , Masculino
16.
Pac Symp Biocomput ; 23: 389-399, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29218899

RESUMO

Precision medicine research efforts both in basic science discovery and clinical implementation are well underway and promise to provide individualized preventions and treatments, improving overall health care delivery. To achieve these goals, advances in data capture and analysis are needed spanning different types of 'omic and clinical data. The efforts to enhance precise treatments for all may accentuate healthcare disparities unless specific challenges are identified and addressed. This session of the 2018 Pacific Symposium on Biocomputing presents the latest developments in this transdisciplinary research space of genomics, medicine, and population health.

17.
Pac Symp Biocomput ; 22: 348-355, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27896988

RESUMO

The major goal of precision medicine is to improve human health. A feature that unites much research in the field is the use of large datasets such as genomic data and electronic health records. Research in this field includes examination of variation in the core bases of DNA and their methylation status, through variations in metabolic and signaling molecules, all the way up to broader systems level changes in physiology and disease presentation. Intermediate goals include understanding the individual drivers of disease that differentiate the cause of disease in each individual. To match this development of approaches to physical and activitybased measurements, computational approaches to using these new streams of data to better understand improve human health are being rapidly developed by the thriving biomedical informatics research community. This session of the 2017 Pacific Symposium of Biocomputing presents some of the latest advances in the capture, analysis and use of diverse biomedical data in precision medicine.


Assuntos
Medicina de Precisão/estatística & dados numéricos , Biologia Computacional , Bases de Dados Factuais , Registros Eletrônicos de Saúde , Genômica , Humanos
18.
Pac Symp Biocomput ; 21: 243-8, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26776190

RESUMO

Rapid advances in personal, cohort, and population-scale data acquisition, such as via sequencing, proteomics, mass spectroscopy, biosensors, mobile health devices and social network activity and other apps are opening up new vistas for personalized health biomedical data collection, analysis and insight. To achieve the vaunted goals of precision medicine and go from measurement to clinical translation, substantial gains still need to be made in methods of data and knowledge integration, analysis, discovery and interpretation. In this session of the 2016 Pacific Symposium on Biocomputing, we present sixteen papers to help accomplish this for precision medicine.


Assuntos
Biologia Computacional , Medicina de Precisão , Proteômica , Humanos
19.
J Strength Cond Res ; 30(1): 282-91, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26110347

RESUMO

The purpose of this study was to determine the association between hip strength and lower extremity kinematics and kinetics during unanticipated single-leg landing and cutting tasks in collegiate female soccer players. Twenty-three National Collegiate Athletic Association division I female soccer players were recruited for strength testing and biomechanical analysis. Maximal isometric hip abduction and external rotation strength were measured using a hand-held dynamometer and expressed as muscle torque (force × femoral length) and normalized to body weight. Three-dimensional lower extremity kinematics and kinetics were assessed with motion analysis and force plates, and an inverse dynamics approach was used to calculate net internal joint moments that were normalized to body weight. Greater hip external rotator strength was significantly associated with greater peak hip external rotation moments (r = 0.47; p = 0.021), greater peak knee internal rotation moments (r = 0.41; p = 0.048), greater hip frontal plane excursion (r = 0.49; p = 0.017), and less knee transverse plane excursion (r = -0.56; p = 0.004) during unanticipated single-leg landing and cutting tasks. In addition, a statistical trend was detected between hip external rotator strength and peak hip frontal plane moments (r = 0.39; p = 0.06). The results suggest that females with greater hip external rotator strength demonstrate better dynamic control of the lower extremity during unanticipated single-leg landing and cutting tasks and provide further support for the link between hip strength and lower extremity landing mechanics.


Assuntos
Articulação do Quadril/fisiologia , Extremidade Inferior/fisiologia , Força Muscular/fisiologia , Músculo Esquelético/fisiologia , Futebol/fisiologia , Adolescente , Fenômenos Biomecânicos , Feminino , Humanos , Cinética , Articulação do Joelho/fisiologia , Distribuição Aleatória , Torque , Adulto Jovem
20.
G3 (Bethesda) ; 6(1): 41-9, 2015 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-26530418

RESUMO

Moyamoya disease (MMD) is a rare disorder characterized by cerebrovascular occlusion and development of hemorrhage-prone collateral vessels. Approximately 10-12% of cases are familial, with a presumed low penetrance autosomal dominant pattern of inheritance. Diagnosis commonly occurs only after clinical presentation. The recent identification of the RNF213 founder mutation (p.R4810K) in the Asian population has made a significant contribution, but the etiology of this disease remains unclear. To further develop the variant landscape of MMD, we performed high-depth whole exome sequencing of 125 unrelated, predominantly nonfamilial, ethnically diverse MMD patients in parallel with 125 internally sequenced, matched controls using the same exome and analysis platform. Three subpopulations were established: Asian, Caucasian, and non-RNF213 founder mutation cases. We provided additional support for the previously observed RNF213 founder mutation (p.R4810K) in Asian cases (P = 6.01×10(-5)) that was enriched among East Asians compared to Southeast Asian and Pacific Islander cases (P = 9.52×10(-4)) and was absent in all Caucasian cases. The most enriched variant in Caucasian (P = 7.93×10(-4)) and non-RNF213 founder mutation (P = 1.51×10(-3)) cases was ZXDC (p.P562L), a gene involved in MHC Class II activation. Collapsing variant methodology ranked OBSCN, a gene involved in myofibrillogenesis, as most enriched in Caucasian (P = 1.07×10(-4)) and non-RNF213 founder mutation cases (P = 5.31×10(-5)). These findings further support the East Asian origins of the RNF213 (p.R4810K) variant and more fully describe the genetic landscape of multiethnic MMD, revealing novel, alternative candidate variants and genes that may be important in MMD etiology and diagnosis.


Assuntos
Etnicidade/genética , Exoma , Predisposição Genética para Doença , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Doença de Moyamoya/diagnóstico , Doença de Moyamoya/genética , Adenosina Trifosfatases , Adolescente , Adulto , Idade de Início , Povo Asiático/genética , Estudos de Casos e Controles , Criança , Feminino , Efeito Fundador , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Fases de Leitura Aberta , Ubiquitina-Proteína Ligases/genética , População Branca/genética , Adulto Jovem
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