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BACKGROUND: Vaccine efficacy (VE) assessed in a randomized controlled clinical trial can be affected by demographic, clinical, and other subject-specific characteristics evaluated as baseline covariates. Understanding the effect of covariates on efficacy is key to decisions by vaccine developers and public health authorities. METHODS: This work evaluates the impact of including correlate of protection (CoP) data in logistic regression on its performance in identifying statistically and clinically significant covariates in settings typical for a vaccine phase 3 trial. The proposed approach uses CoP data and covariate data as predictors of clinical outcome (diseased versus non-diseased) and is compared to logistic regression (without CoP data) to relate vaccination status and covariate data to clinical outcome. RESULTS: Clinical trial simulations, in which the true relationship between CoP data and clinical outcome probability is a sigmoid function, show that use of CoP data increases the positive predictive value for detection of a covariate effect. If the true relationship is characterized by a decreasing convex function, use of CoP data does not substantially change positive or negative predictive value. In either scenario, vaccine efficacy is estimated more precisely (i.e., confidence intervals are narrower) in covariate-defined subgroups if CoP data are used, implying that using CoP data increases the ability to determine clinical significance of baseline covariate effects on efficacy. CONCLUSIONS: This study proposes and evaluates a novel approach for assessing baseline demographic covariates potentially affecting VE. Results show that the proposed approach can sensitively and specifically identify potentially important covariates and provides a method for evaluating their likely clinical significance in terms of predicted impact on vaccine efficacy. It shows further that inclusion of CoP data can enable more precise VE estimation, thus enhancing study power and/or efficiency and providing even better information to support health policy and development decisions.
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Eficácia de Vacinas , Humanos , Modelos Logísticos , Eficácia de Vacinas/estatística & dados numéricos , Ensaios Clínicos Controlados Aleatórios como Assunto/estatística & dados numéricos , Ensaios Clínicos Controlados Aleatórios como Assunto/métodos , Vacinação/estatística & dados numéricos , Vacinação/métodos , Vacinas/uso terapêutico , Demografia/estatística & dados numéricos , Simulação por Computador , Ensaios Clínicos Fase III como Assunto/estatística & dados numéricos , Ensaios Clínicos Fase III como Assunto/métodosRESUMO
BACKGROUND. CT scanners' net scan state (i.e., image acquisition period) represents a potential target for energy savings through protocol adjustments. However, gauging CT energy savings is difficult without installing costly energy monitors. OBJECTIVE. The purpose of this article was to assess correlations between CT dose report metrics and energy consumption during the system net scan state and to compare theoretic energy savings from matching percentage reductions in energy consumption during net scan and idle system states. METHODS. Current sensors were installed on a single CT scanner. A phantom was scanned at varying kilovoltage settings and effective tube current-rotation time settings. A retrospective assessment was performed in 32 patients (mean age, 61.2 ± 17.9 [SD] years; 17 men, 15 women) who underwent 32 single-energy noncontrast abdominopelvic CT examinations from September 22, 2021, to September 27, 2021, on the same scanner. Correlations between dose report metrics and net scan energy consumption were assessed in the phantom and clinical scans, and equations were generated to derive net scan energy consumption from DLP. An additional retrospective assessment was performed in 1355 patients (mean age, 59.3 ± 16.9 years; 663 men, 692 women) who underwent 1728 single-energy noncontrast abdominopelvic CT examinations from January 1, 2021, through December 31, 2021, on the same scanner to estimate net scan energy consumption per examination. This information was integrated with literature-derived values to compare estimated annual national energy savings resulting from 20% reductions in net scan and idle state energy consumption. RESULTS. Net scan energy consumption in the phantom scans showed high linear correlation with DLP (R2 = 0.87), and, in the clinical scans, high linear correlation with CTDIvol (R2 = 0.89) and very high linear correlation with DLP (R2 = 0.92). When combining mean DLP in examinations performed in the 1-year interval, an equation relating DLP and net scan energy consumption and literature values estimated that annual national energy savings was 14.9 times greater (40,437,870 kWh/2,704,000 kWh) by targeting the idle state rather than net scan state. CONCLUSION. CT net scan energy savings can be inferred from reductions in dose report metrics. However, targeting net scan energy consumption has modest impact relative to targeting idle state energy consumption. CLINICAL IMPACT. Environmental sustainability efforts should target the idle state energy consumption of CT.
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Tomografia Computadorizada por Raios X , Masculino , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Doses de Radiação , Estudos Retrospectivos , Tomógrafos Computadorizados , Imagens de FantasmasRESUMO
Editor's Note.-RadioGraphics Update articles supplement or update information found in full-length articles previously published in RadioGraphics. These updates, written by at least one author of the previous article, provide a brief synopsis that emphasizes important new information such as technological advances, revised imaging protocols, new clinical guidelines involving imaging, or updated classification schemes.
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Hiperparatireoidismo Primário , Tomografia Computadorizada por Raios X , Humanos , Hiperparatireoidismo Primário/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Guias de Prática Clínica como AssuntoRESUMO
Network inference is a valuable approach for gaining mechanistic insight from high-dimensional biological data. Existing methods for network inference focus on ranking all possible relations (edges) among all measured quantities such as genes, proteins, metabolites (features) observed, which yields a dense network that is challenging to interpret. Identifying a sparse, interpretable network using these methods thus requires an error-prone thresholding step which compromises their performance. In this article we propose a new method, DEKER-NET, that addresses this limitation by directly identifying a sparse, interpretable network without thresholding, improving real-world performance. DEKER-NET uses a novel machine learning method for feature selection in an iterative framework for network inference. DEKER-NET is extremely flexible, handling linear and nonlinear relations while making no assumptions about the underlying distribution of data, and is suitable for categorical or continuous variables. We test our method on the Dialogue for Reverse Engineering Assessments and Methods (DREAM) challenge data, demonstrating that it can directly identify sparse, interpretable networks without thresholding while maintaining performance comparable to the hypothetical best-case thresholded network of other methods.
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Algoritmos , Redes Reguladoras de Genes , Aprendizado de Máquina , ProteínasRESUMO
OBJECTIVE. We hypothesized that intravitreal silicone oil would show attenuation similar to that of fat on dual-energy CT 190-keV virtual monoenergetic images (VMIs) with high frequency and that this appearance would enable confident determination of the presence or absence of intravitreal silicone oil. The purpose of the present study was to test our hypothesis in a blinded multireader study of selected patients with and without intravitreal silicone oil as well as in an unblinded ROI-based assessment. MATERIALS AND METHODS. In this retrospective study of 50 dual-energy CT examinations of the head that included 100 globes (64 that were normal, 19 that exhibited hyperattenuating mimics, and 17 that contained silicone oil), three neuroradiologists independently assessed anonymized 190-keV VMIs for intravitreal attenuation similar to that of fat. Interobserver agreement was calculated. The mean attenuation value on weighted-average images and 190-keV VMIs was recorded. RESULTS. The three readers identified intravitreal attenuation values similar to that of fat in 100% of globes that contained silicone oil and 0% of globes that did not contain silicone oil (100% sensitivity, specificity, PPV, and accuracy) with 100% agreement. The mean attenuation value of silicone oil on 190-keV VMIs was -55 HU, which was significantly less than the mean attenuation on 190-keV VMIs of normal globes and hyperattenuating mimics (p < .001 for both). CONCLUSION. Intravitreal silicone oil shows attenuation of -60 to -49 HU on 190-keV VMIs. With the use of these images only, three neuroradiologists identified intravitreal silicone oil with 100% accuracy and perfect agreement.
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Óleos de Silicone , Tomografia Computadorizada por Raios X/métodos , Corpo Vítreo/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Injeções Intravítreas , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Adulto JovemRESUMO
OBJECTIVE: The objective of this study is to establish the prevalence of internal auditory canal diverticula spanning all age groups imaged for reasons other than hearing loss and to investigate changes in prevalence with age to determine if it is a finding that develops over time. METHODS: We retrospectively evaluated 1000 cervical spine computed tomographies obtained in patients age 0-99 years for presence of internal auditory canal diverticula. RESULTS: A total of 405 patients (208 men; 197 women) were included. Internal auditory canal diverticula were identified in 23 patients (5.7%). No statistically significant association between internal auditory canal diverticula and patient age was found (P = 0.68). CONCLUSIONS: The prevalence of internal auditory canal diverticula on cervical spine computed tomographies is 5.7%. No change in prevalence was observed with increasing age supporting the hypothesis that internal auditory canal diverticula represent a normal anatomic variant rather than acquired pathology.
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Vértebras Cervicais/diagnóstico por imagem , Otopatias/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Adulto JovemRESUMO
Silicone oil is used as an intravitreal injection to treat retinal detachment. This material can spread into the subarachnoid space, where it may be mistaken for acute hemorrhage on single-energy computed tomography. This report describes the appearance of intravitreal silicone oil on dual-energy computed tomography, emphasizing unique virtual monoenergetic imaging characteristics that allow for confident differentiation of silicone oil from hemorrhage as well as from other potential single-energy mimics, such as calcium and iodine.
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Óleos de Silicone/química , Tomografia Computadorizada por Raios X/métodos , Diagnóstico Diferencial , Hemorragia/diagnóstico por imagem , Humanos , Interpretação de Imagem Assistida por Computador , Injeções Intravítreas , Masculino , Pessoa de Meia-Idade , Descolamento Retiniano/diagnóstico por imagem , Descolamento Retiniano/tratamento farmacológico , Óleos de Silicone/administração & dosagem , Óleos de Silicone/uso terapêuticoRESUMO
BACKGROUND AND PURPOSE: The aim of the study was to describe the prevalence and characteristics of orbital interstitial fluid seen on magnetic resonance (MR) images of infants and young children. MATERIALS AND METHODS: Fat-suppressed axial T2-weighted MR images of 100 consecutive infants and young children (<6 years) without orbital pathology were retrospectively reviewed by 2 neuroradiologists. The presence, location, and extent of high-signal orbital interstitial fluid were characterized and tabulated as a function of age. RESULTS: Orbital interstitial fluid was detected in 90 (90%) of the 100 subjects overall, present in 100% (75/75) of infants and children younger than 3 years, 75% (12/16) of those aged 3 to 5 years, and 33% (3/9) of those aged 5 to 6 years. The fluid was bilateral and symmetric in all cases. Two morphologic patterns were distinguished, which often co-existed: (1) a focal discrete curvilinear band of fluid in the posterior-lateral orbit, more common in younger patients, and (2) an ill-defined, lace-like pattern primarily in the superior orbit seen in subjects of all ages. CONCLUSIONS: Orbital interstitial fluid as detected by fat-suppressed T2-weighted MR imaging is a nearly universal finding in infants and young children and should not be considered pathologic. It may have either a focal or lace-like pattern or both. Orbital interstitial fluid decreases in size and prevalence as a function of age but is still present in nearly half of children aged 4 to 6 years. Possible explanations concerning the nature and origin of this fluid are presented, including the fascinating possibility that the fluid represents an extracranial pathway for outflow of cerebrospinal fluid.
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Líquido Cefalorraquidiano/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Órbita/diagnóstico por imagem , Fatores Etários , Líquido Cefalorraquidiano/fisiologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Órbita/fisiologia , Estudos RetrospectivosRESUMO
Dual-energy computed tomography (DECT) has many current and evolving applications in neuroradiology including material decomposition, improving conspicuity of iodinated contrast enhancement, and artifact reduction. However, there are multiple challenges in incorporating DECT into practice including hardware selection, postprocessing software requirements, technologist and physician training, and numerous workflow issues. This article reviews in a question-and-answer format common issues that arise when incorporating DECT into a busy neuroradiology practice.
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Neuroimagem/métodos , Administração da Prática Médica , Imagem Radiográfica a Partir de Emissão de Duplo Fóton/estatística & dados numéricos , Tomografia Computadorizada por Raios X/estatística & dados numéricos , Competência Clínica , Tomada de Decisões , Humanos , Interpretação de Imagem Radiográfica Assistida por Computador , Software , Fluxo de TrabalhoAssuntos
Encéfalo , Infecções por Coronavirus , Leucoencefalopatias , Pandemias , Pneumonia Viral , Betacoronavirus , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , COVID-19 , Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico por imagem , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Humanos , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/patologia , Leucoencefalopatias/virologia , Masculino , Pessoa de Meia-Idade , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico por imagem , SARS-CoV-2 , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Next-generation, higher-valency pneumococcal conjugate vaccines (PCVs), 15-valent PCV V114 and 20-valent PCV (PCV20), have been assessed by comparing their immune responses across serotypes shared with the 13-valent PCV (PCV13). Without efficacy or real-world vaccine effectiveness (VE) it becomes important to relate IgG titers to VE to aid in the interpretation of the immune response elicited by V114 and PCV20. METHODS: We estimated the protective antibody concentrations for each serotype in 7-valent PCV (PCV7) and PCV13 which were then used to predict the serotype-specific VE for each PCV7 and PCV13 non PCV7 serotype present in V114 and PCV20. RESULTS: The predicted effectiveness of V114 was comparable to PCV7 and PCV13 for 11 of the 13 shared serotypes (1, 4, 5, 6B, 7F, 9 V, 14, 18C, 19A, 19F, and 23F), with improved effectiveness against serotype 3 and decreased effectiveness against serotype 6A. PCV20 had predicted effectiveness comparable to PCV7 and PCV13 for 7 of the 13 shared serotypes (5, 6A, 7F, 9 V, 18C, 19F, and 23F), with decreased effectiveness against the remaining serotypes (1, 3, 4, 6B, 14, and 19A). CONCLUSIONS: Prediction of serotype-specific VE values suggests that V114 retains greater effectiveness than PCV20 toward most serotypes present in PCV7 and PCV13.
Pediatric pneumococcal conjugate vaccines (PCVs) first became available in 2000, when the seven-valent PCV (PCV7) was approved. Since then, PCV7 has been replaced by higher-valency vaccines, including the ten-valent (PCV10) and thirteen-valent (PCV13) vaccines and, more recently, fifteen- and twenty-valent vaccines (V114 and PCV20, respectively). The increase in valency provides broader serotype coverage against invasive pneumococcal disease (IPD) in children. However, IPD due to serotypes contained in PCV7 and PCV13 continue to be observed. In the current study, we used a previously published method to estimate the vaccine effectiveness of V114 and PCV20 in a US and Puerto Rican pediatric population that is recommended to receive a 3 + 1 dosing schedule.
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Infecções Pneumocócicas , Vacinas Pneumocócicas , Criança , Humanos , Lactente , Sorogrupo , Vacina Pneumocócica Conjugada Heptavalente , Streptococcus pneumoniae , Infecções Pneumocócicas/prevenção & controle , Anticorpos Antibacterianos , Vacinas ConjugadasRESUMO
BACKGROUND: Next generation, higher valency pneumococcal conjugate vaccines (PCVs) are assessed and licensed by comparing the immune response across serotypes shared with the PCVs that are standard of care for prevention of pneumococcal disease. METHODS: Using a previously qualified method we predicted the serotype-specific vaccine effectiveness (VE) against invasive pneumococcal disease of V114 and PCV20 for the serotypes shared with PCV13 in an EU, Russian, and Australian pediatric population that is recommended to receive a 2 + 1 dosing regimen. RESULTS: The estimated protective antibody concentrations ranged from 0.03 (serotype 23F) to 1.49 µg/mL (serotype 19F). Predicted VE values for V114 ranged from 79% (serotype 5) to 100% (serotype 23F). V114 had comparable effectiveness to PCV13 for all but one of shared serotypes, with predicted higher effectiveness (in V114) against serotype 3 (93% vs. 65%). Predicted VE values for PCV20 ranged from 47% (serotype 3) to 91% (serotype 14). PCV20 predicted VE was lower than PCV13's for serotypes 4, 19F, 23F, 1, 3, 5, 6A, 7F, and 19A. CONCLUSIONS: Predicted serotype-specific VE values suggest that, with a 2 + 1 dosing regimen, V114 will have greater effectiveness than PCV20 against PCV13 serotypes, particularly for the still-prevalent serotype 3. Real-world VE studies will ultimately provide clarity on the effectiveness of novel PCVs and support further confidence in and/or improvements to modeling efforts.
Pediatric pneumococcal conjugate vaccines (PCVs) were first introduced in Europe in the early 2000s and their incorporation into national immunization programs has helped decrease the incidence of invasive pneumococcal disease (IPD) in Europe and globally. However, some IPD persists, due both to the emergence of non-vaccine pneumococcal serotypes and to the persistence of certain vaccine-targeted serotypes. Higher valency vaccines have been developed to help prevent IPD arising from these serotypes. The goal of the present study is to employ a previously developed model to predict the serotype-specific vaccine effectiveness of higher valency PCVs in a pediatric population that is recommended to receive a 2 + 1 dosing schedule.
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Infecções Pneumocócicas , Streptococcus pneumoniae , Criança , Humanos , Lactente , Sorogrupo , Vacinas Pneumocócicas , Austrália , Infecções Pneumocócicas/epidemiologia , Vacinas ConjugadasRESUMO
In vaccine efficacy trials, inaccurate counting of infection cases leads to systematic under-estimation-or "dilution"-of vaccine efficacy. In particular, if a sufficient fraction of observed cases are false positives, apparent efficacy will be greatly reduced, leading to unwarranted no-go decisions in vaccine development. Here, we propose a range of replicate testing strategies to address this problem, considering the additional challenge of uncertainty in both infection incidence and diagnostic assay specificity/sensitivity. A strategy that counts an infection case only if a majority of replicate assays return a positive result can substantially reduce efficacy dilution for assays with non-systematic (i.e., "random") errors. We also find that a cost-effective variant of this strategy, using confirmatory assays only if an initial assay is positive, yields a comparable benefit. In clinical trials, where frequent longitudinal samples are needed to detect short-lived infections, this "confirmatory majority rule" strategy can prevent the accumulation of false positives from magnifying efficacy dilution. When widespread public health screening is used for viruses, such as SARS-CoV-2, that have non-differentiating features or may be asymptomatic, these strategies can also serve to reduce unneeded isolations caused by false positives.
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Human respiratory syncytial virus (RSV) causes a substantial proportion of respiratory tract infections worldwide. Although RSV reinfections occur throughout life, older adults, particularly those with underlying comorbidities, are at risk for severe complications from RSV. There is no RSV vaccine available to date, and treatment of RSV in adults is largely supportive. A correlate of protection for RSV has not yet been established, but antibodies targeting the pre-fusion conformation of the RSV F glycoprotein play an important role in RSV neutralization. We previously reported a Phase 1 study of an mRNA-based vaccine (V171) expressing a pre-fusion-stabilized RSV F protein (mDS-Cav1) in healthy adults. Here, we evaluated an mRNA-based vaccine (V172) expressing a further stabilized RSV pre-fusion F protein (mVRC1). mVRC1 is a single chain version of RSV F with interprotomer disulfides in addition to the stabilizing mutations present in the mDS-Cav1 antigen. The immunogenicity of the two mRNA-based vaccines encoding mVRC1 (V172) or a sequence-optimized version of mDS-Cav1 to improve transcriptional fidelity (V171.2) were compared in RSV-naïve and RSV-experienced African green monkeys (AGMs). V172 induced higher neutralizing antibody titers than V171.2 and demonstrated protection in the AGM challenge model. We conducted a Phase 1, randomized, placebo-controlled, clinical trial of 25 µg, 100 µg, 200 µg, or 300 µg of V172 in healthy older adults (60-79 years old; N = 112) and 100 µg, 200 µg, or 300 µg of V172 in healthy younger adults (18-49 years old; N = 48). The primary clinical objectives were to evaluate the safety and tolerability of V172, and the secondary objective was to evaluate RSV serum neutralization titers. The most commonly reported solicited adverse events were injection-site pain, injection-site swelling, headache, and tiredness. V172 was generally well tolerated in older and younger adults and increased serum neutralizing antibody titers, pre-fusion F-specific competing antibody titers, and RSV F-specific T-cell responses.
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Enlarged parietal foramina are related to a condition in which defective intramembranous ossification of the parietal bones results in enlargement of the normal foramina. Although generally believed to be a benign variant, scalp defects, seizures, and structural brain abnormalities have been reported in a small percentage of affected patients. These 2 cases now present evidence that parietal foramina constitute structural weak spots in the calvarium that may potentially increase risk of skull fracture after trauma.
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Osso Parietal/diagnóstico por imagem , Osso Parietal/lesões , Fraturas Cranianas/diagnóstico por imagem , Adulto , Humanos , Recém-Nascido , Masculino , Osso Parietal/anormalidades , Tomografia Computadorizada por Raios X/métodos , Adulto JovemRESUMO
BACKGROUND: The potential impact of new pneumococcal conjugate vaccines (PCVs) is assessed by using immune responses to predict their effectiveness against invasive pneumococcal disease (IPD). This analysis predicted the serotype-specific effectiveness against IPD of a new 15-valent PCV (V114) for the serotypes shared with a 13-valent PCV (PCV13), in a US pediatric population given a 3 + 1 dosing regimen. METHODS: Beginning with the known serotype-specific antibody concentrations after vaccination with placebo, 7-valent PCV (PCV7) and PCV13, reverse cumulative distribution curves were used, along with published serotype-specific vaccine effectiveness of PCV7 and PCV13, to derive a protective antibody concentration (Cp) for each PCV13 serotype in V114. Serotype-specific effectiveness was predicted using the Cp estimates and the respective serotype-specific antibody concentrations of placebo and V114 recipients in recent pediatric clinical trials. RESULTS: Predicted serotype-specific V114 effectiveness values ranged from 86% to 99% for PCV7 serotypes and from 59% to 97% for (non-PCV7) PCV13 serotypes. CONCLUSIONS: V114 serotype-specific effectiveness against IPD in a US pediatric population was predicted to be largely comparable to that of PCV7 and PCV13 for shared serotypes, with models suggesting likelihood of high overall benefit gained from increased serotype 3 effectiveness, and additional protection against serotypes 22 F and 33 F.
Assuntos
Infecções Pneumocócicas , Vacinas Pneumocócicas , Anticorpos , Criança , Vacina Pneumocócica Conjugada Heptavalente , Humanos , Lactente , Infecções Pneumocócicas/epidemiologia , Sorogrupo , Streptococcus pneumoniae , Vacinas ConjugadasRESUMO
The strength of the immune response, as measured by antibody concentrations, varies between pneumococcal conjugate vaccines (PCVs). Linking immunogenicity and effectiveness is necessary to assess whether changes in immune response from currently recommended PCVs to next-generation vaccines could impact effectiveness. Simulated reverse cumulative distribution curves were generated using published serotype-specific IgG concentrations with placebo or PCV7. This was combined with the published estimates of serotype-specific vaccine effectiveness of PCV7 against invasive pneumococcal disease to estimate the protective antibody concentration for each serotype in PCV7. Then, based on the published serotype-specific IgG concentrations in PCV13 recipients, reverse cumulative distribution curves were generated for the serotypes shared between PCV13 and PCV7. These estimated protective antibody concentration values were then used to predict the vaccine effectiveness of PCV13. The results were compared to published aggregate values for vaccine effectiveness. The aggregate median predicted vaccine effectiveness values were similar to previously reported observed values for the United Kingdom (93% versus 90%), Australia (71% versus 70%), and Germany (91% versus 90%). These results demonstrate that IgG concentrations of next-generation PCVs can be used to generate reliable estimates of vaccine effectiveness for serotypes shared with established PCVs.
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Genetic discoveries have transformed our understanding of many neurologic diseases. Identification of specific causal pathogenic variants has improved understanding of pathophysiology and enabled replacement of many confusing eponyms and acronyms with more meaningful and clinically relevant genetics-based terminology. In this era of rapid scientific advancement, multidisciplinary collaboration among pediatricians, neurologists, geneticists, radiologists, and other members of the health care team is increasingly important in the care of patients with genetic neurologic diseases. Radiologists familiar with neurogenetic disease add value by (1) recognizing constellations of characteristic imaging findings that are associated with a genetic disease before one is clinically suspected; (2) predicting the most likely genotypes for a given imaging phenotype in clinically suspected genetic disease; and (3) providing detailed and accurate descriptions of the imaging phenotype in challenging cases with unknown or uncertain genotypes. This review aims to increase awareness and understanding of pathogenic variants relating to neurologic disease by (1) briefly reviewing foundational knowledge of chromosomes, inheritance patterns, and mutagenesis; (2) providing concrete examples of and detailed information about specific neurologic diseases resulting from pathogenic variants; and (3) highlighting clinical and imaging features that are of greatest relevance for the radiologist.
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Médicos , Radiologistas , Humanos , FenótipoRESUMO
Use of magnetic resonance (MR) imaging in the emergency department continues to increase. Although computed tomography is the first-line imaging modality for most head and neck emergencies, MR is superior in some situations and imparts no ionizing radiation. This article provides a symptom-based approach to nontraumatic head and neck pathologic conditions most relevant to emergency head and neck MR imaging, emphasizing relevant anatomy, "do not miss" findings affecting clinical management, and features that may aid differentiation from potential mimics. Essential MR sequences and strategies for obtaining high-quality images when faced with patient motion and other technical challenges are also discussed.
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Neoplasias de Cabeça e Pescoço , Imageamento por Ressonância Magnética , Emergências , Dor Ocular , Cabeça/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética/métodos , Pescoço/diagnóstico por imagemRESUMO
The use of magnetic resonance (MR) imaging in the emergency department continues to increase. Although computed tomography is the first-line imaging modality for most head and neck emergencies, MR is superior in some situations and imparts no ionizing radiation. This article provides a symptom-based approach to nontraumatic head and neck pathologic conditions most relevant to emergency head and neck MR imaging, emphasizing relevant anatomy, "do not miss" findings affecting clinical management, and features that may aid differentiation from potential mimics. Essential MR sequences and strategies for obtaining high-quality images when faced with patient motion and other technical challenges are also discussed.