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This study examined how race/ethnicity, sex/gender, and sexual orientation intersect under interlocking systems of oppression to socially pattern depression among US adults. With cross-sectional data from the 2015-2020 National Survey on Drug Use and Health (NSDUH; n=234,722), we conducted design-weighted multilevel analysis of individual heterogeneity and discriminatory accuracy (MAIHDA) under an intersectional framework to predict past-year and lifetime major depressive episode (MDE). With 42 intersectional groups constructed from seven race/ethnicity, two sex/gender, and three sexual orientation categories, we estimated age-standardized prevalence and excess/reduced prevalence attributable to two-way or higher interaction effects. Models revealed heterogeneity across groups, with prevalence ranging from 1.9-19.7% (past-year) and 4.5-36.5% (lifetime). Approximately 12.7% (past-year) and 12.5% (lifetime) of total individual variance were attributable to between-group differences, indicating key relevance of intersectional groups in describing the population distribution of depression. Main effects indicated, on average, people who were White, women, gay/lesbian, or bisexual had greater odds of MDE. Main effects explained most between-group variance. Interaction effects (past-year: 10.1%; lifetime: 16.5%) indicated a further source of heterogeneity around averages with groups experiencing excess/reduced prevalence compared to main effects expectations. We extend the MAIHDA framework to calculate nationally representative estimates from complex sample survey data using design-weighted, Bayesian methods.
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This study examined how race/ethnicity, sex/gender, and sexual orientation intersect to socially pattern depression among US adults. We used repeated, cross-sectional data from the 2015-2020 National Survey on Drug Use and Health (NSDUH; n=234,772) to conduct design-weighted multilevel analysis of individual heterogeneity and discriminatory accuracy (MAIHDA) for two outcomes: past-year and lifetime major depressive episode (MDE). With 42 intersectional groups constructed from seven race/ethnicity, two sex/gender, and three sexual orientation categories, we estimated group-specific prevalence and excess/reduced prevalence attributable to intersectional effects (i.e., two-way or higher interactions between identity variables). Models revealed heterogeneity between intersectional groups, with prevalence estimates ranging from 3.4-31.4% (past-year) and 6.7-47.4% (lifetime). Model main effects indicated that people who were Multiracial, White, women, gay/lesbian, or bisexual had greater odds of MDE. Additive effects of race/ethnicity, sex/gender, and sexual orientation explained most between-group variance; however, approximately 3% (past-year) and 12% (lifetime) were attributable to intersectional effects, with some groups experiencing excess/reduced prevalence. For both outcomes, sexual orientation main effects (42.9-54.0%) explained a greater proportion of between-group variance relative to race/ethnicity (10.0-17.1%) and sex/gender (7.5-7.9%). Notably, we extend MAIHDA to calculate nationally representative estimates to open future opportunities to quantify intersectionality with complex sample survey data.
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BACKGROUND: Transcatheter Leadless Pacemakers (TLP) are a safe and effective option for adults with pacing indications. These devices may be an alternative in pediatric patients and patients with congenital heart disease for whom repeated sternotomies, thoracotomies, or transvenous systems are unfavorable. However, exemption of children from clinical trials has created uncertainty over the indications, efficacy, and safety of TLP in the pediatric population. The objectives of this study are to evaluate clinical indications, procedural characteristics, electrical performance, and outcomes of TLP implantation in children. METHODS: Retrospective data were collected from patients enrolled in the Pediatric and Congenital Electrophysiology Society TLP registry involving 15 centers. Patients ≤21 years of age who underwent Micra (Medtronic Inc, Minneapolis, MN) TLP implantation and had follow-up of ≥1 week were included in the study. RESULTS: The device was successfully implanted in 62 of 63 registry patients (98%) at a mean age of 15±4.1 years and included 20 (32%) patients with congenital heart disease. The mean body weight at TLP implantation was 55±19 kg and included 8 patients ≤8 years of age and ≤30 kg in weight. TLP was implanted by femoral (n=55, 87%) and internal jugular (n=8, 12.6%) venous approaches. During a mean follow-up period of 9.5±5.3 months, there were 10 (16%) complications including one cardiac perforation/pericardial effusion, one nonocclusive femoral venous thrombus, and one retrieval and replacement of TLP due to high thresholds. There were no deaths, TLP infections, or device embolizations. Electrical parameters, including capture thresholds, R wave sensing, and pacing impedances, remained stable. CONCLUSIONS: Initial results from the Pediatric and Congenital Electrophysiology Society TLP registry demonstrated a high level of successful Micra device implants via femoral and internal venous jugular approaches with stable electrical parameters and infrequent major complications. Long-term prospective data are needed to confirm the reproducibility of these initial findings.
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Cardiopatias Congênitas , Marca-Passo Artificial , Adulto , Humanos , Criança , Adolescente , Adulto Jovem , Recém-Nascido , Estudos Prospectivos , Estudos Retrospectivos , Reprodutibilidade dos Testes , Resultado do Tratamento , Desenho de Equipamento , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/terapia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/terapiaRESUMO
BACKGROUND: Relative growth rate (RGR) has a long history of use in biology. In its logged form, RGRâ =â ln[(Mâ +â ΔM)/M], where M is size of the organism at the commencement of the study, and ΔM is new growth over time interval Δt. It illustrates the general problem of comparing non-independent (confounded) variables, e.g. (Xâ +â Y) vs. X. Thus, RGR depends on what starting M(X) is used even within the same growth phase. Equally, RGR lacks independence from its derived components, net assimilation rate (NAR) and leaf mass ratio (LMR), as RGRâ =â NARâ ×â LMR, so that they cannot legitimately be compared by standard regression or correlation analysis. FINDINGS: The mathematical properties of RGR exemplify the general problem of 'spurious' correlations that compare expressions derived from various combinations of the same component terms X and Y. This is particularly acute when X >> Y, the variance of X or Y is large, or there is little range overlap of X and Y values among datasets being compared. Relationships (direction, curvilinearity) between such confounded variables are essentially predetermined and so should not be reported as if they are a finding of the study. Standardizing by M rather than time does not solve the problem. We propose the inherent growth rate (IGR), lnΔM/lnM, as a simple, robust alternative to RGR that is independent of M within the same growth phase. CONCLUSIONS: Although the preferred alternative is to avoid the practice altogether, we discuss cases where comparing expressions with components in common may still have utility. These may provide insights if (1) the regression slope between pairs yields a new variable of biological interest, (2) the statistical significance of the relationship remains supported using suitable methods, such as our specially devised randomization test, or (3) multiple datasets are compared and found to be statistically different. Distinguishing true biological relationships from spurious ones, which arise from comparing non-independent expressions, is essential when dealing with derived variables associated with plant growth analyses.
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Desenvolvimento Vegetal , Folhas de PlantaRESUMO
The COVID-19 pandemic exacerbated the already increasing challenge of establishing immersive, co-curricular activities for engineering students, particularly for biomedical-related activities. In the current work, we outline a strategy for co-curricular learning that leverages a private-public partnership in which methods for capacity-building have enabled mutually beneficial outcomes for both organizations. A contemporary issue for many non-profits is identifying effective ways to build capacity for consistent service delivery while at the same time embracing the volunteer activities of students; a challenge is that the lifecycle of a university student is often not aligned (much shorter) with the needs of the non-profit. The public-private partnership simultaneously meets the service motivation of students with the needs of the host. This paper includes two case studies that illustrate the implementation of the methods for capacity-building and related outcomes.
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Biomedical engineering instructors teach the medical devices design theory and practice following the recommendations derived from the FDA regulations included in 21CFR820 and portraying it as less of a choice but the designer's obligation to uphold laws intended to reduce medical device design risk and protect the general public from defective goods. Although product liability cases are frequently adjudicated in a court of law, many students have only a vague notion of the link between design and product liability issues, and furthermore the important role that standards play in everyday design practice. To give real-life context for the connection between product liability and the benefits of using standards in design, we are aiming to develop moot court case studies that will offer engineering students the opportunity to investigate the viewpoint of various stakeholders and to bring arguments in support of their position. Our work-in-progress is part of a larger effort to reduce the barriers to standards adoption by engineering programs by creating a complete set of educational materials for educators based on specific case studies that foster consideration and use of standards in quality systems (ISO 13485:2016), and cyber-security in medical device design (ISO/IEEE 11073). Materials include lesson plans, content, and homework assignments that will be delivered as videos, tutorials, case study narratives, and Canvas modules. Our preliminary efforts have encouraged continuation of the development of content, though our efforts will benefit from other educator participation - this paper is a "Call to Action" for collaborators.
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BACKGROUND: With continued challenges to the timeline for polio transmission interruption in Pakistan, including COVID-19, there is a risk of oral polio vaccine campaign fatigue among caregivers of young children. Renewed efforts to minimize oral polio vaccine acceptance erosion may be needed. This study examines the possible role of social norms in protecting against acceptance erosion and the role of vaccinators in promoting these social norms. METHODS: Data were analyzed from a poll conducted by local interview teams between February 23 and April 5, 2016, among 4,070 parents and other caregivers of children under age 5 living in areas at high-risk for polio transmission in Pakistan. The sample was drawn via a stratified multistage cluster design utilizing random route methods at the household level. We calculated the prevalence of subjective and descriptive social norms around vaccine acceptance; vaccine acceptance and commitment to vaccinate in future; and experiences and views of polio vaccinators across the population. We examined the relationship between these social norms and vaccination behaviors as well as the relationship between experiences with and views of vaccinators and social norms using uncontrolled comparisons (t-tests of proportion) and logistic repressions to control for demographics. RESULTS: Both descriptive and subjective positive social norms were associated with vaccine acceptance and future commitment. Positive experiences with and views of vaccinators (trust, perceived technical knowledge, compassion, and overall pleasantness of the interaction) were associated with both descriptive and subjective positive social norms. CONCLUSIONS: These data support the idea that positive social norms could be protective against erosion of oral polio vaccine acceptance and that positive experiences with, and views of, vaccinators could help promote these positive social norms. Creative community engagement efforts may be able to leverage positive experiences with vaccinators to help foster social norms and protect against the risk of acceptance erosion.
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COVID-19 , Poliomielite , Cuidadores , Criança , Pré-Escolar , Humanos , Poliomielite/epidemiologia , Poliomielite/prevenção & controle , Vacina Antipólio Oral , Normas Sociais , VacinaçãoRESUMO
Paroxysmal supraventricular tachycardia (SVT) is the most common clinical arrhythmia in young patients. With an estimated prevalence of roughly 1 in 500 children, a pediatrician may knowingly or unknowingly see several patients who are affected each year. SVT symptoms can sometimes be vague or conflated with common pediatric complaints. Different forms of SVT are predominant at different ages, sometimes complicating timely recognition and referral. Differing pathophysiology and age distribution impact risk of complications such as heart failure, or rarely, sudden death. Treatment choices continue to evolve as new medications, monitoring devices, and ablation technologies continue to mature. This review focuses on the most common types of paroxysmal SVT: atrioventricular nodal reentrant tachycardia, atrioventricular reciprocating tachycardia, and Wolff-Parkinson White syndrome. Atrial arrhythmia mechanisms are also briefly outlined. It is meant to provide practical guidelines for the diagnosis and management of patients with SVT from infancy through adolescence. [Pediatr Ann. 2021;50(3):e113-e120.].
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Pediatras/psicologia , Taquicardia Paroxística , Taquicardia Supraventricular , Taquicardia Ventricular , Adolescente , Criança , Eletrocardiografia , Humanos , Taquicardia Paroxística/diagnóstico , Taquicardia Paroxística/epidemiologia , Taquicardia Paroxística/terapia , Taquicardia Supraventricular/diagnóstico , Taquicardia Supraventricular/terapiaRESUMO
BACKGROUND: Current commercial prosthetic hand controllers limit patients' ability to fully engage high Degree-of-Freedom (DoF) prosthetic hands. Available feedforward controllers rely on large training data sets for controller setup and a need for recalibration upon prosthesis donning. Recently, an intuitive, proportional, simultaneous, regression-based 3-DoF controller remained stable for several months without retraining by combining chronically implanted electromyography (ciEMG) electrodes with a K-Nearest-Neighbor (KNN) mapping technique. The training dataset requirements for simultaneous KNN controllers increase exponentially with DoF, limiting the realistic development of KNN controllers in more than three DoF. We hypothesize that a controller combining linear interpolation, the muscle synergy framework, and a sufficient number of ciEMG channels (at least two per DoF), can allow stable, high-DoF control. METHODS: Two trans-radial amputee subjects, S6 and S8, were implanted with percutaneously interfaced bipolar intramuscular electrodes. At the time of the study, S6 and S8 had 6 and 8 bipolar EMG electrodes, respectively. A Virtual Reality (VR) system guided users through single and paired training movements in one 3-DoF and four different 4-DoF cases. A linear model of user activity was built by partitioning EMG feature space into regions bounded by vectors of steady state movement EMG patterns. The controller evaluated online EMG signals by linearly interpolating the movement class labels for surrounding trained EMG movements. This yields a simultaneous, continuous, intuitive, and proportional controller. Controllers were evaluated in 3-DoF and 4-DoF through a target-matching task in which subjects controlled a virtual hand to match 80 targets spanning the available movement space. Match Percentage, Time-To-Target, and Path Efficiency were evaluated over a 10-month period based on subject availability. RESULTS AND CONCLUSIONS: In 3-DoF, S6 and S8 matched most targets and demonstrated stable control after 8 and 10 months, respectively. In 4-DoF, both subjects initially found two of four 4-DoF controllers usable, matching most targets. S8 4-DoF controllers were stable, and showed improving trends over 7-9 months without retraining or at-home practice. S6 4-DoF controllers were unstable after 7 months without retraining. These results indicate that the performance of the controller proposed in this study may remain stable, or even improve, provided initial viability and a sufficient number of EMG channels. Overall, this study demonstrates a controller capable of stable, simultaneous, proportional, intuitive, and continuous control in 3-DoF for up to ten months and in 4-DoF for up to nine months without retraining or at-home use with minimal training times.
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Amputados/reabilitação , Membros Artificiais , Eletrodos Implantados , Mãos , Movimento , Treinamento por Simulação/métodos , Realidade Virtual , Braço/inervação , Interfaces Cérebro-Computador , Eletromiografia/métodos , Humanos , Modelos Lineares , Masculino , Músculo Esquelético/inervação , Educação de Pacientes como Assunto/métodos , Modalidades de Fisioterapia/instrumentação , SoftwareRESUMO
We sought to assess the effect of a shorter medication treatment course (up to 4-6 months of age) on the recurrence of infantile supraventricular tachycardia (SVT). This was a retrospective review of infants with SVT diagnosed at age 0-12 months at Rady Children's Hospital (2010-2017). Infants with structural congenital heart disease, automatic tachycardias, atrial flutter, or lack of follow-up data were excluded. Seventy-four infants met criteria. Median age at diagnosis was 6 days (IQR 0-21 days); 28.4% presented with fetal tachycardia. Median gestational age was 38.4 weeks (IQR 36-40), 30% were preterm. Median age at medication discontinuation was 6.7 months (IQR 4.6-9.8). Therapy was stopped at younger age in patients managed by pediatric electrophysiologist (vs. general pediatric cardiologist): 4.9 vs. 8.6 months (p = 0.03). Thirty-eight patients (51.4%) were treated for < 6 months; 32.4% for 6-12 months, and 16.2% for > 12 months. SVT recurrence was similar for these groups: 13.2% vs. 16.7%, and 33.3%, respectively, (p = 0.27). Most patients with recurrence required emergency care, though none had significant adverse outcomes. Infants with SVT and structurally normal cardiac anatomy, who remain recurrence free on a single agent, have no increased risk of recurrence with shorter treatment courses of 4-6 months, compared to traditional treatment duration of 6-12 months.
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Antiarrítmicos/uso terapêutico , Taquicardia Supraventricular/tratamento farmacológico , Criança , Pré-Escolar , Duração da Terapia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Recidiva , Estudos Retrospectivos , Taquicardia Supraventricular/diagnósticoRESUMO
BACKGROUND: Brachial plexus and axillary nerve injuries often result in paralysis of the deltoid muscle. This can be functionally debilitating for patients and have a negative impact on their activities of daily living. In these settings, transferring the branch of the radial nerve innervating the triceps to the axillary nerve is a viable treatment option. Additional nerve transfers may be warranted. This study sought to determine the efficacy of nerve transfer procedures in the setting of brachial plexus and axillary nerve injuries and factors affecting clinical outcomes. METHODS: The U.S. National Library of Medicine's website "PubMed" was queried for "radial to axillary nerve transfer" and "brachial plexus nerve transfer." An initial review by two authors was performed to identify relevant articles followed by a third author validation utilizing inclusion and exclusion criteria. Individual patient outcomes were recorded and pooled for final analysis. RESULTS: Of the 80 patients, 66 (82.5%) had clinical improvement after surgical nerve transfer procedures. Significant difference in clinical improvement following nerve transfer procedures was correlated with patient age, mechanism of injury, brachial plexus vs isolated axillary nerve injuries, multiple nerve transfers vs single nerve transfers, and surgery within the first 7 months of injury. The branch of the radial nerve supplying the triceps long head showed improved clinical results compared with the branch of the radial nerve supplying the triceps medial head and anconeus. CONCLUSION: Nerve transfers have been shown to be effective in restoring shoulder abduction in both isolated axillary nerve injuries and brachial plexus injuries.
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BACKGROUND: Normative ECG values for children are based on relatively few subjects and are not standardized, resulting in interpersonal variability of interpretation. Recent advances in digital technology allow a more quantitative, reproducible assessment of ECG variables. Our objective was to create the foundation of normative ECG standards in the young utilizing Z-scores. METHODS: One hundred two ECG variables were collected from a retrospective cohort of 27 085 study subjects with no known heart condition, ages 0 to 39 years. The cohort was divided into 16 age groups by sex. Median, interquartile range, and range were calculated for each variable adjusted to body surface area. RESULTS: Normative standards were developed for all 102 ECG variables including heart rate; P, R, and T axis; R-T axis deviation; PR interval, QRS duration, QT, and QTc interval; P, Q, R, S, and T amplitudes in 12 leads; as well as QRS and T wave integrals. Incremental Z-score values between -2.5 and 2.5 were calculated to establish upper and lower limits of normal. Historical ECG interpretative concepts were reassessed and new concepts observed. CONCLUSIONS: Electronically acquired ECG values based on the largest pediatric and young adult cohort ever compiled provide the first detailed, standardized, quantitative foundation of traditional and novel ECG variables. Expression of ECG variables by Z-scores lends an objective and reproducible evaluation without interpreter bias that can lead to more confident establishment of ECG-disease correlations and improved automated ECG readings in high-volume cardiac screening efforts in the young. Graphic Abstract: A graphic abstract is available for this article.
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Potenciais de Ação , Eletrocardiografia/normas , Sistema de Condução Cardíaco/fisiologia , Frequência Cardíaca , Adolescente , Adulto , Fatores Etários , Superfície Corporal , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Valor Preditivo dos Testes , Valores de Referência , Estudos Retrospectivos , Adulto JovemRESUMO
OBJECTIVES: This study assessed the safety and efficacy of novel and standardized protocols for the use of intravenous (IV) sotalol in pediatric patients. BACKGROUND: Acute arrhythmia treatments in children remain limited. IV sotalol is a new option but pediatric experience is limited. There is no standardized protocol for rapid infusion during acute arrhythmias. This study assessed a single center's initial experience with IV sotalol in young patients, describing a protocol for rapid infusion for acute treatment, and reviewed the safety and efficacy of maintenance dosing. METHODS: This is a retrospective study of all patients who received IV sotalol at Rady Children's Hospital. Demographics, arrhythmia, hemodynamics, and effects of IV sotalol were assessed. RESULTS: Thirty-seven patients received IV sotalol from December 2015 to December 2018. Group 1 (n = 26) received sotalol for acute therapy and group 2 (n = 11) received a maintenance dose of sotalol after successful cardioversion with alternate therapies. The groups had similar demographics. Group 1 included patients with atrial flutter (n = 16), patients with supraventricular tachycardia (SVT) (n = 9), and patients with atrial ectopic tachycardia (AET) (n = 1). All 9 patients with SVT (100%) converted to sinus rhythm after failure to convert using adenosine. Median administration time was 15 min, the median dose was 30 mg/m2, and mean time to cardioversion was 14 min. Group 2 median infusion time was 120 min, the median dose was 54 mg/m2/day, and all patients maintained sinus rhythm. No patients required cessation for adverse effects previously described for IV sotalol. CONCLUSIONS: IV sotalol was safe and effective for acute and maintenance therapy in young patients. In acute patients, 30 mg/m2 over 15 min converted most patients. IV sotalol adds a valuable option to IV therapies in the young.
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Flutter Atrial , Taquicardia Supraventricular , Antiarrítmicos/efeitos adversos , Flutter Atrial/tratamento farmacológico , Criança , Humanos , Estudos Retrospectivos , Sotalol/efeitos adversos , Taquicardia Supraventricular/tratamento farmacológicoRESUMO
BACKGROUND: Modern prosthetic hands are typically controlled using skin surface electromyographic signals (EMG) from remaining muscles in the residual limb. However, surface electrode performance is limited by changes in skin impedance over time, day-to-day variations in electrode placement, and relative motion between the electrodes and underlying muscles during movement: these limitations require frequent retraining of controllers. In the presented study, we used chronically implanted intramuscular electrodes to minimize these effects and thus create a more robust prosthetic controller. METHODS: A study participant with a transradial amputation was chronically implanted with 8 intramuscular EMG electrodes. A K Nearest Neighbor (KNN) regression velocity controller was trained to predict intended joint movement direction using EMG data collected during a single training session. The resulting KNN was evaluated over 12 weeks and in multiple arm posture configurations, with the participant controlling a 3 Degree-of-Freedom (DOF) virtual reality (VR) hand to match target VR hand postures. The performance of this EMG-based controller was compared to a position-based controller that used movement measured from the participant's opposite (intact) hand. Surface EMG was also collected for signal quality comparisons. RESULTS: Signals from the implanted intramuscular electrodes exhibited less crosstalk between the various channels and had a higher Signal-to-Noise Ratio than surface electrode signals. The performance of the intramuscular EMG-based KNN controller in the VR control task showed no degradation over time, and was stable over the 6 different arm postures. Both the EMG-based KNN controller and the intact hand-based controller had 100% hand posture matching success rates, but the intact hand-based controller was slightly superior in regards to speed (trial time used) and directness of the VR hand control (path efficiency). CONCLUSIONS: Chronically implanted intramuscular electrodes provide negligible crosstalk, high SNR, and substantial VR control performance, including the ability to use a fixed controller over 12 weeks and under different arm positions. This approach can thus be a highly effective platform for advanced, multi-DOF prosthetic control.
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Membros Artificiais , Eletrodos Implantados , Músculo Esquelético/fisiologia , Desenho de Prótese , Interface Usuário-Computador , Adulto , Amputação Cirúrgica , Eletromiografia/métodos , Mãos/fisiologia , Humanos , Masculino , Movimento/fisiologiaRESUMO
OBJECTIVES: Genetic disorders are a leading contributor to mortality in the neonatal ICU and PICU in the United States. Although individually rare, there are over 6,200 single-gene diseases, which may preclude a genetic diagnosis prior to ICU admission. Rapid whole genome sequencing is an emerging method of diagnosing genetic conditions in time to affect ICU management of neonates; however, its clinical utility has yet to be adequately demonstrated in critically ill children. This study evaluates next-generation sequencing in pediatric critical care. DESIGN: Retrospective cohort study. SETTING: Single-center PICU in a tertiary children's hospital. PATIENTS: Children 4 months to 18 years admitted to the PICU who were nominated between July 2016 and May 2018. INTERVENTIONS: Rapid whole genome sequencing with targeted phenotype-driven analysis was performed on patients and their parents, when parental samples were available. MEASUREMENTS AND MAIN RESULTS: A molecular diagnosis was made by rapid whole genome sequencing in 17 of 38 children (45%). In four of the 17 patients (24%), the genetic diagnoses led to a change in management while in the PICU, including genome-informed changes in pharmacotherapy and transition to palliative care. Nine of the 17 diagnosed children (53%) had no dysmorphic features or developmental delay. Eighty-two percent of diagnoses affected the clinical management of the patient and/or family after PICU discharge, including avoidance of biopsy, administration of factor replacement, and surveillance for disorder-related sequelae. CONCLUSIONS: This study demonstrates a retrospective evaluation for undiagnosed genetic disease in the PICU and clinical utility of rapid whole genome sequencing in a portion of critically ill children. Further studies are needed to identify PICU patients who will benefit from rapid whole genome sequencing early in PICU admission when the underlying etiology is unclear.
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Doenças Genéticas Inatas/diagnóstico , Sequenciamento Completo do Genoma , Adolescente , Criança , Pré-Escolar , Estado Terminal/terapia , Feminino , Humanos , Lactente , Unidades de Terapia Intensiva Pediátrica/estatística & dados numéricos , Masculino , Medicina de Precisão/métodos , Estudos RetrospectivosRESUMO
The corpus callosum has become a key area of interest for researchers in severe mental illness. Disruptions in fractional anisotropy in the callosum have been reported in schizophrenia and major depressive disorder. No change has been reported in oligodendrocyte density and overall size of the callosum in either illness, suggesting that gross morphology is unchanged, but subtler organisational disruption may exist within this structure. Using high-resolution oil immersion microscopy, we examined the cross-sectional area of the nerve fibre and the axonal myelin sheath; and using standard high-resolution light microscopy, we measured the density of myelinated axons. These measurements were made in the splenium of the corpus callosum. Measures were taken in the sagittal plane in the callosal splenium to contrast with the previous similar examination of the callosal genu. Cases of major depressive disorder had significantly decreased mean myelin cross-sectional area (p = 0.014) per axon in the splenium than in controls or schizophrenia groups. There was no significant change in the density of myelinated axons. The results suggest a clear decrease of myelin in the axons of the callosal splenium in MDD, although this type of neuropathological study is unable to clarify whether this is caused by changes during life or has a developmental origin. In contrast with increased myelin in the callosal genu, this result suggests a longitudinal change in callosal myelination in major depressive disorder not present in normal or schizophrenic brains.
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Axônios/patologia , Corpo Caloso/patologia , Transtorno Depressivo Maior/patologia , Bainha de Mielina/patologia , Bancos de Tecidos , Adulto , Corpo Caloso/diagnóstico por imagem , Transtorno Depressivo Maior/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: We previously described the association of genetic variants in calcium channel genes and susceptibility to Kawasaki disease (KD), an acute, self-limited vasculitis, and the most common cause of acquired cardiac disease in children. Abnormal repolarization of cardiomyocytes and changes in T wave morphology have been reported in KD but have not been studied systematically. METHODS: We analyzed acute and convalescent ECG T wave morphology in two independent cohorts of KD subjects and studied the association between bifid T waves and genetic variants in previously reported genes with SNVs associated with cardiac repolarization. RESULTS: Bifid T waves in limb leads were identified in 24% and 27% of two independent cohorts of acute KD subjects. Calcium channel voltage-dependent beta 2 subunit gene (CACNB2) (rs1409207) showed association with bifid T waves in both cohorts (nominal P = .04 and P = .0003, respectively). This CACNB2 polymorphism also showed association with KD susceptibility in a previously published KD genome wide association study data (nominal P = .009). CONCLUSION: This genotype/phenotype association study uncovered a variant in CACNB2 that may be associated with both KD susceptibility and bifid T waves, a novel signature of altered myocardial repolarization. The present study combined with published reports suggests that genetic variants in calcium channels and intracellular calcium signaling play a prominent role in shaping susceptibility to KD.
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Canais de Cálcio Tipo L/genética , Eletrocardiografia , Variação Genética , Estudo de Associação Genômica Ampla/métodos , Síndrome de Linfonodos Mucocutâneos/genética , Doença Aguda , Canais de Cálcio Tipo L/metabolismo , Pré-Escolar , Ecocardiografia , Feminino , Seguimentos , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Síndrome de Linfonodos Mucocutâneos/metabolismo , Síndrome de Linfonodos Mucocutâneos/fisiopatologia , Polimorfismo GenéticoRESUMO
Atrial septal defects (ASDs) are the most common form of congenital heart disease. There are 4 embryologic types of ASDs, and rhythm considerations vary based on type. ASDs have left-to-right shunt and primarily right-sided volume overload. This leads to electrical remodeling that may predispose patients to atrial tachyarrhythmias and conduction disorders. Risk for arrhythmias is increased with late age of ASD repair, shunt size, other factors such as pulmonary hypertension and comorbid conditions. Arrhythmia incidence is decreased after ASD closure, but remains elevated compared to general population. Medical and procedural therapy for arrhythmias should consider type and timing of ASD repair. Conduction disorders are rare. Sinus node dysfunction may be seen with late age of repair and large shunt size. Sinus venosus ASD exhibits a higher rate of sinus node dysfunction, especially with older surgical techniques. Ostium primum ASD has higher risk of spontaneous or post-operative AV block, though this is rare with current surgical techniques. Risk of AV block with surgical repair or device closure of secundum ASD is rare. Familial ASDs and other forms of congenital heart disease may be seen with mutations in associated myocardial transcription factors NKX2.5, GATA4, TBX6, along with conduction disorders such as AV block.
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Objective: To survey an international sample of providers to determine their current practices for the prevention, screening, and treatment of congenital heart block (CHB) due to maternal Ro/SSA antibodies. Methods: A survey was designed by the organizing committee of the 9th International Conference of Reproduction, Pregnancy and Rheumatic Diseases. It was sent to attendants of the conference and authors of recent publications or abstracts at ACR 2012, 2013 or 2014 on rheumatic diseases and pregnancy. Results: In anti-Ro/SSA positive women, 80% of 49 respondents recommended screening by serial fetal echocardiogram (ECHO), with most starting at week 16 (59%) and stopping at week 28 (25%), although the time to stop varied widely. For women without a prior infant with neonatal lupus, respondents recommend every other week (44%) or weekly (28%) fetal ECHOs. For women with a prior infant with neonatal lupus, 80% recommend weekly fetal ECHOs. To prevent CHB, HCQ was recommended by 67% of respondents and most would start pre-pregnancy (62%). Respondents were asked about medications to treat varying degrees of CHB in a 20-week pregnant, anti-Ro and La positive SLE patient. For first degree, respondents recommended starting dexamethasone (53%) or HCQ (43%). For second degree, respondents recommended starting dexamethasone (88%). For third degree, respondents recommended starting dexamethasone (55%) or IVIg (33%), although 27% would not start treatment. Conclusion: Despite the absence of official guidelines, many physicians with a focus on pregnancy and rheumatic disease have developed similar patterns in the screening, prevention and treatment of CHB.
Assuntos
Ecocardiografia , Bloqueio Cardíaco/congênito , Lúpus Eritematoso Sistêmico/congênito , Padrões de Prática Médica/estatística & dados numéricos , Diagnóstico Pré-Natal , Anticorpos Antinucleares/análise , Ecocardiografia/métodos , Feminino , Bloqueio Cardíaco/diagnóstico por imagem , Bloqueio Cardíaco/prevenção & controle , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico por imagem , Gravidez , Trimestres da Gravidez/imunologia , Diagnóstico Pré-Natal/métodos , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Using a survey conducted during the 2013-2014 polio outbreak in Somalia, this study examines attitudinal and knowledge-based threats to oral polio vaccine acceptance and commitment. Findings address a key gap, as most prior research focuses on endemic settings. METHODS: Between November 19 and December 21, 2013, we conducted interviews among 2003 caregivers of children under 5â¯years in select districts at high risk for polio transmission. Within each district, sample was drawn via a multi-stage cluster design with random route household selection. We calculated the percentage of caregivers who could not confirm recent vaccination and those uncommitted to future vaccination. We compared these percentages among caregivers with varying knowledge and attitudes, focusing on variables identified as threats in endemic settings, using controlled and uncontrolled comparisons. We also examined absolute levels of threat variables. RESULTS: Only 10% of caregivers could not confirm recent vaccination, but 32% were uncommitted to future vaccination. Being unvaccinated or uncommitted were related to multiple threat variables. For example, compared with relevant counterparts, caregivers were more likely to be unconfirmed and uncommitted if they did not trust vaccinators "a great deal" (unconfirmed: 9% vs. 2%; uncommitted: 49% vs. 28%), which is also true in endemic settings. Unlike endemic settings, symptom knowledge was related to commitment while rumor awareness was low and unrelated to past acceptance or commitment. Levels of trust and perceptions of OPV effectiveness were high, though perceptions of community support and awareness of logistics were lower. CONCLUSIONS: As in endemic settings, outbreak responses will benefit from communications strategies focused on enhancing trust in vaccinators, institutions and the vaccine, alongside making community support visible. Disease facts may help motivate acceptance, and enhanced logistics information may help facilitate caregiver availability at the door. Quelling rumors early may be important to prevent them from becoming threats.