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Objective: To summarize the literature relating to prehospital care at 5 km through marathon distance road races and present the epidemiology of common medical encounters, significant medical complications, and medical outcomes. Data Sources: We searched PubMed and Google Scholar for the published literature pertaining to road race medical tent encounters at 5 km through marathon distance road races from 2000 to 2018. We included English-language, original articles reporting on injury and illness incidence. Main Results: Standard medical encounter definitions have recently been formulated in response to the previous lack of uniform definitions. The incidence of medical complications at road races may be influenced by environmental conditions and race distance. Minor and moderate medical encounters, such as dermatologic injuries, musculoskeletal injuries, and exercise-associated collapse, are common. Serious and life-threatening medical complications, including exertional heat stroke, exercise-associated hyponatremia, and cardiac arrest, are less frequent. Fatalities are also rare, with rates of 0.3 to 5 per 100 000 participants reported at marathons. The ratio of hospital transports to medical encounters is low. Conclusions: On-site medical services play a key role in the safety of both runners and the community. Future research and care initiatives in this field should focus on optimizing treatment protocols, promoting injury prevention efforts and reducing host community costs. [ABSTRACT FROM AUTHOR]

Low bone mineral density (BMD) can predispose to vertebral body compression fractures and postoperative instrumentation failure. DEXA is considered the gold standard for measurement of BMD, however it is not obtained for all spine surgery patients preoperatively. There is a growing body of evidence suggesting that more routinely acquired spine imaging studies such as computed tomography (CT) and magnetic resonance imaging (MRI) can be opportunistically used to measure BMD. Here we review available studies that assess the validity of opportunistic screening with CT-derived Hounsfield Units (HU) and MRI-derived vertebral vone quality (VBQ) to measure BMD of the spine as well the utility of these measures in predicting postoperative outcomes. Additionally, we provide screening thresholds based on HU and VBQ for prediction of osteopenia/ osteoporosis and postoperative outcomes such as cage subsidence, screw loosening, proximal junctional kyphosis, and implant failure., Competing Interests: Declaration of competing interest One or more of the authors declare financial or professional relationships on ICMJE-TSJ disclosure forms., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Context: Shifting from current dietary patterns to diets rich in plant-based (PB) foods and lower in animal-based foods (ABFs) is generally regarded as a suitable strategy to improve nutritional health and reduce environmental impacts. Despite the recent growth in supply of and demand for novel plant-based foods (NPBFs), a comprehensive overview is lacking., Objectives: This review provides a synthesis of available evidence, highlights challenges, and informs public health and environmental strategies for purposeful political decision-making by systematically searching, analyzing, and summarizing the available literature., Data Sources: Five peer-reviewed databases and grey literature sources were rigorously searched for publications., Data Extraction: Study characteristics meeting the inclusion criteria regarding NPBF nutrient composition and health and environmental outcomes in high-income countries were extracted., Data Analysis: Fifty-seven peer-reviewed and 36 grey literature sources were identified; these were published in 2016-2022. NPBFs typically have substantially lower environmental impacts than ABFs, but the nutritional contents are complex and vary considerably across brands, product type, and main primary ingredient. In the limited evidence on the health impacts, shifts from ABFs to PB meats were associated with positive health outcomes. However, results were mixed for PB drinks, with links to micronutrient deficiencies., Conclusion: If carefully selected, certain NPBFs have the potential to be healthier and nutrient-rich alternatives to ABFs and typically have smaller environmental footprints. More disaggregated categorization of various types of NPBFs would be a helpful step in guiding consumers and key stakeholders to make informed decisions. To enable informed policymaking on the inclusion of NPBFs in dietary transitions as part of a wider net-zero and health strategy, future priorities should include nutritional food standards, labelling, and subdivisions or categorizations of NPBFs, as well as short- and long-term health studies evaluating dietary shifts from ABFs to NPBFs and standardized environmental impact assessments, ideally from independent funders., (© The Author(s) 2024. Published by Oxford University Press on behalf of the International Life Sciences Institute.)

Purpose: Concerns regarding the ongoing opioid epidemic have led to the implementation of standardized postoperative opioid-prescribing protocols for many common hand surgical procedures. This study investigated patient- and procedure-specific factors affecting adherence to a standardized postoperative opioid-prescribing protocol after cubital tunnel surgery., Methods: A retrospective review of patients who underwent primary cubital tunnel surgery within one academic medical system between October 1, 2016 (after the implementation of a standardized postoperative opioid-prescribing protocol) and March 1, 2020 was performed. Patients aged <18 years or with a history of revision surgery, prior traumatic ulnar nerve injury, additional concurrent surgical procedures, or a surgeon not participating in the protocol were excluded. Patient demographics, comorbidities, prior opioid history, and surgical variables were recorded. The primary outcome was adherence to the standardized postoperative opioid-prescribing protocol. A bivariate statistical analysis was performed., Results: Ninety-eight patients were included. The median initial postoperative prescription amount was 75 morphine equivalent units (100% of protocol target) for 78 patients (80% of cohort) who underwent in situ decompression and 75 morphine equivalent units (50% of protocol target) for 20 patients (20% of cohort) who underwent decompression with ulnar nerve transposition. Forty-nine percent of initial opioid prescriptions adhered to protocol, compared with 26% below target and 26% above target. In the bivariate analysis, recent opioid prescriptions within 3 months preoperatively were associated with improved prescriber protocol adherence; longer tourniquet time and anterior transposition were associated with prescriptions below target, and in situ decompression was associated with prescriptions above target., Conclusions: Variation in postoperative opioid-prescribing patterns persists despite the implementation of a standardized postoperative opioid-prescribing protocol. Recent opioid prescriptions were associated with protocol adherence, possibly reflecting increased provider vigilance in this patient population. Differing target prescription amounts for in situ decompression versus decompression with anterior transposition may be unnecessary., Type of Study/level of Evidence: Therapeutic IV., Competing Interests: No benefits in any form have been received or will be received related directly to this article., (© 2024 The Authors.)

Background: Concerns regarding the ongoing opioid epidemic have led to heightened scrutiny of postoperative opioid prescribing patterns for common orthopedic surgical procedures. This study investigated patient- and procedure-specific risk factors for additional postoperative opioid rescue prescriptions following ambulatory cubital tunnel surgery., Methods: A retrospective review was performed of patients who underwent cubital tunnel surgery at 2 academic medical centers between June 1, 2015 and March 1, 2020. Patient demographics, comorbidities, prior opioid history, and surgical variables were recorded. The primary outcome was postoperative rescue opioid prescription. Univariate and bivariate statistical analyses were performed., Results: Two hundred seventy-four patients were included, of whom 171 (62%) underwent in situ ulnar nerve decompression and 103 (38%) underwent ulnar nerve decompression with anterior transposition. The median postoperative opioid prescription amount was 90 morphine equivalent units (MEU) for the total cohort, 77.5 MEU for in situ ulnar nerve decompression, and 112.5 MEU for ulnar nerve decompression with transposition. Twenty-two patients (8%) required additional rescue opioid prescriptions postoperatively. Female sex, fibromyalgia, chronic opioid use, chronic pain diagnosis, and recent opioid were associated with the need for additional postoperative rescue opioid prescriptions., Conclusions: While most patients do not require additional rescue opioid prescriptions after cubital tunnel surgery, chronic pain patients and patients with pain sensitivity syndromes are at risk for requiring additional rescue opioid prescriptions. For these high-risk patients, preoperative collaboration of a multidisciplinary team may be beneficial for developing a perioperative pain management plan that is both safe and effective., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

This dataset covers national and subnational non-pharmaceutical interventions (NPI) to combat the COVID-19 pandemic in the Americas. Prior to the development of a vaccine, NPI were governments' primary tools to mitigate the spread of COVID-19. Variation in subnational responses to COVID-19 is high and is salient for health outcomes. This dataset captures governments' dynamic, varied NPI to combat COVID-19 for 80% of Latin America's population from each country's first case through December 2021. These daily data encompass all national and subnational units in Argentina, Bolivia, Brazil, Chile, Colombia, Ecuador, Mexico, and Peru. The dataset includes individual and aggregate indices of nine NPI: school closures, work suspensions, public event cancellations, public transport suspensions, information campaigns, local travel restrictions, international travel controls, stay-at-home orders, and restrictions on the size of gatherings. We also collected data on mask mandates as a separate indicator. Local country-teams drew from multiple data sources, resulting in high-quality, reliable data. The dataset thus allows for consistent, meaningful comparisons of NPI within and across countries during the pandemic., (© 2023. Springer Nature Limited.)

Competing Interests: The authors report no conflicts of interest.

Introduction: Spinal epidural abscess (SEA) is a complex medical condition with high morbidity and healthcare costs. Clinical presentation and laboratory data may have prognostic value in forecasting morbidity and mortality. C-reactive protein-to-albumin ratio (CAR) demonstrates promise for the prediction of adverse events in multiple orthopaedic and nonorthopaedic surgical conditions. We investigated the relationship between CAR and outcomes after treatment of SEA., Methods: We retrospectively evaluated adult patients treated within a single healthcare system for a diagnosis of SEA (2005 to 2017). Laboratory and clinical data included age at diagnosis, sex, race, body mass index, smoking status, history of intravenous drug use, Charlson Comorbidity Index, and CAR. The primary outcome was the occurrence of any complication; mortality and readmissions were considered secondarily. We used logistic regression to determine the association between baseline CAR and outcomes, adjusting for confounders., Results: We included 362 patients with a 90-day mortality rate of 13.3% and a 90-day complication rate of 47.8%. A reduced complication rate was observed in the lowest decile of CAR values compared with the remaining 90% of patients, a threshold value of 2.5 (27.0% versus 50.2%; odds ratio [OR] 2.66, 95% confidence interval [CI] 1.22 to 5.81). CAR values in the highest two deciles experienced significantly increased odds of complications compared with the lowest decile (80th: OR 3.44; 95% CI 1.25 to 9.42; 90th: OR 3.28; 95% CI 1.19 to 9.04)., Discussion: We found elevated CAR to be associated with an increased likelihood of major morbidity in SEA. We suggest using a CAR value of 2.5 as a threshold for enhanced surveillance and recognizing patients with values above 73.7 as being at exceptional risk of morbidity., Level of Evidence: Level III observational cohort study., (Copyright © 2022 by the American Academy of Orthopaedic Surgeons.)

Nonpharmaceutical interventions such as stay-at-home orders continue to be the main policy response to the COVID-19 pandemic in countries with limited or slow vaccine rollout. Often, nonpharmaceutical interventions are managed or implemented at the subnational level, yet little information exists on within-country variation in nonpharmaceutical intervention policies. We focused on Latin America, a COVID-19 epicenter, and collected and analyzed daily subnational data on public health measures in Argentina, Bolivia, Brazil, Chile, Colombia, Ecuador, Mexico, and Peru to compare within- and across-country nonpharmaceutical interventions. We showed high heterogeneity in the adoption of these interventions at the subnational level in Brazil and Mexico; consistent national guidelines with subnational heterogeneity in Argentina and Colombia; and homogeneous policies guided by centralized national policies in Bolivia, Chile, and Peru. Our results point to the role of subnational policies and governments in responding to health crises. We found that subnational responses cannot replace coordinated national policy. Our findings imply that governments should focus on evidence-based national policies while coordinating with subnational governments to tailor local responses to changing local conditions.

A global transformation towards sustainable food systems is crucial for delivering on climate change mitigation targets worldwide. In high- and middle-income settings, plant-based meat and dairy alternatives present potential substitutes for animal sourced foods, and a pathway to transition to more sustainable diets. We examined plant-based alternative foods (PBAF) consumption trends in the UK by analysing repeated cross-sectional food consumption data from the National Diet and Nutrition Survey 2008-2019. Dietary data for 15,655 individuals aged 1.5 years and over were analysed to assess aggregate change in intake of PBAF and six other food groups that play a role in transformative dietary change. Characteristics associated with consumption of PBAF were explored using logistic regression, and consumption patterns in high and low meat consumers were explored by examining intake of potential animal product substitute food groups. The proportion of individuals reporting consumption of any PBAFs increased from 6.7% in 2008-2011, to 13.1% in 2017-2019 (p < 0.01). Compared to 2008-2011 PBAF consumption rose by 115% in 2017-2019 (p < 0.01). Females were 46% more likely than males to report consumption of PBAF (p < 0.01). Millennials (age 24-39 years) were the most likely generation to report PBAF consumption (p < 0.01 compared to generation Z (age 11-23 years) and traditionalists (age 75+ years)), as were individuals of the highest income tertile (p < 0.01). Among "low meat consumers", PBAF consumption was on average higher than "high meat consumers" (18.6 g versus 4.8 g PBAF per day, p < 0.01). Our results support the hypothesis of a pivotal role of PBAF in the transition towards sustainable food systems in the UK, by demonstrating they are becoming increasingly popular among UK consumers. This highlights the urgent need to assess in detail the environmental and health impacts of large scale and population-wide consumption of PBAF in comparison to their animal-based equivalents., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.)

The consumption of fruit and vegetables (F&V) is important for human health to protect against non-communicable disease and micronutrient deficiency. Increasing consumption of F&V may also benefit planetary health if these foods are substituted for foods with higher environmental footprints such as red meat or dairy. The retail food environment (RFE) is an influential junction between the food system and individual diets as it drives access to F&V through external (physical access) and personal (availability, affordability, acceptability) domains. We performed a systematic search of six literature databases (January 2021) for studies assessing access to F&V in the RFE and its association with F&V consumption in adults in high- and upper-middle income countries. 36 studies were identified and categorised by dimensions of food access - accessibility, affordability, acceptability, availability and accommodation. More than half of the studies (n = 20) were based in the USA. F&V accessibility was the most commonly reported dimension (n = 29); no study reported on accommodation. 6 studies were rated to be high quality. A positive association of increased availability of F&V options in the RFE with intake was identified in 9 of 15 studies. Associations in both acceptability and accessibility dimensions were inconsistent. No association was observed between F&V affordability and consumption although available data were limited. Many challenges exist to building a robust evidence base within food environment research including conceptual, definitional and methodological heterogeneity and measurement standardisation. Future food policies should consider multi-dimensional interventions to promote access to F&V in the RFE across all domains., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2021 The Authors.)

Domestic contribution to total fruit and vegetable supply in the UK decreased from 42% in 1987 to 22% in 2013. The impact of this changing pattern of UK fruit and vegetable imports, from countries with different vulnerabilities to projected climate change, on the resilience of the UK food system is currently unknown. Here, we used the UN FAO bilateral trade database over a period of 27 years to estimate changes in fruit and vegetable supply in the UK, and the NDGAIN climate vulnerability categories to assess the climate vulnerability of countries supplying fruit and vegetables to the UK. The diversity of fruit and vegetable supply has increased from 21 crops, comprising the top 80% of all fruit and vegetables supplied to the UK in 1987, to 34 crops in 2013. The contribution of tropical fruits has rapidly increased while that of more traditional vegetables, such as cabbages and carrots, has declined. The proportion of fruit and vegetables supplied to the UK market from climate vulnerable countries increased from 20% in 1987 to 32% in 2013. Sensitivity analyses - using climatic and freshwater availability indicators - supported these findings. Increased reliance on fruit and vegetable imports from climate vulnerable countries could negatively affect the availability, price and consumption of fruit and vegetables in the UK, affecting dietary intake and health particularly of older people and low-income households. Inter-sectoral actions across agriculture, health, environment, and trade are critical in both the UK and countries that export to the UK to increase the resilience of the food system, and support population health., Competing Interests: Competing interests This study was funded by The Wellcome Trust [Grant: 205200/Z/16/Z & 210794/Z/18/Z]. The authors have no competing interests to declare.

Objectives: To assess the health impacts and environmental consequences of adherence to national dietary recommendations (the Eatwell Guide (EWG)) in the UK., Design and Setting: A secondary analysis of multiple observational studies in the UK., Participants: Adults from the European Prospective Investigation into Cancer - Oxford(EPIC-Oxford), UK Biobank and Million Women Study, and adults and children aged 5 and over from the National Diet and Nutrition Survey (NDNS).Primary and secondary outcome measures risk of total mortality from Cox proportional hazards regression models, total greenhouse gas emissions (GHGe) and blue water footprint (WF) associated with 'very low' (0-2 recommendations), 'low' (3-4 recommendations) or 'intermediate-to-high' (5-9 recommendations) adherence to EWG recommendations., Results: Less than 0.1% of the NDNS sample adhere to all nine EWG recommendations and 30.6% adhere to at least five recommendations. Compared with 'very low' adherence to EWG recommendations, 'intermediate-to-high adherence' was associated with a reduced risk of mortality (risk ratio (RR): 0.93; 99% CI: 0.90 to 0.97) and -1.6 kg CO 2 eq/day (95% CI: -1.5 to -1.8), or 30% lower dietary GHGe. Dietary WFs were similar across EWG adherence groups. Of the individual Eatwell guidelines, adherence to the recommendation on fruit and vegetable consumption was associated with the largest reduction in total mortality risk: an RR of 0.90 (99% CI: 0.88 to 0.93). Increased adherence to the recommendation on red and processed meat consumption was associated with the largest decrease in environmental footprints (-1.48 kg CO 2 eq/day, 95% CI: -1.79 to 1.18 for GHGe and -22.5 L/day, 95% CI: -22.7 to 22.3 for blue WF)., Conclusions: The health and environmental benefits of greater adherence to EWG recommendations support increased government efforts to encourage improved diets in the UK that are essential for the health of people and the planet in the Anthropocene., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ.)

Objective: To determine if specific dietary patterns are associated with risk of hypertension, type 2 diabetes mellitus (T2DM) and high BMI in four sites in Peru., Design: We analysed dietary patterns from a cohort of Peruvian adults in four geographical settings using latent class analysis. Associations with prevalence and incidence of hypertension, T2DM and high BMI were assessed using Poisson regression and generalised linear models, adjusted for potential confounders., Setting: Four sites in Peru varying in degree of urbanisation., Participants: Adults aged ≥35 years (n 3280)., Results: We identified four distinct dietary patterns corresponding to different stages of the Peruvian nutrition transition, reflected by the foods frequently consumed in each pattern. Participants consuming the 'stage 3' diet, characterised by high proportional consumption of processed foods, animal products and low consumption of vegetables, mostly consumed in the semi-urban setting, showed the highest prevalence of all health outcomes (hypertension 32·1 %; T2DM 10·7 %; high BMI 75·1 %). Those with a more traditional 'stage 1' diet characterised by potato and vegetables, mostly consumed in the rural setting, had lower prevalence of hypertension (prevalence ratio; 95 CI: 0·57; 0·43, 0·75), T2DM (0·36; 0·16, 0·86) and high BMI (0·55; 0·48, 0·63) compared with the 'stage 3' diet. Incidence of hypertension was highest among individuals consuming the 'stage 3' diet (63·75 per 1000 person-years; 95 % CI 52·40, 77·55)., Conclusions: The study found more traditional diets were associated with a lower prevalence of three common chronic diseases, while prevalence of these diseases was higher with a diet high in processed foods and low in vegetables.

Background: Environmental changes are predicted to threaten human health, agricultural production and food security. Whilst their impact has been evaluated for major cereals, legumes and vegetables, no systematic evidence synthesis has been performed to date evaluating impact of environmental change on fruits, nuts and seeds (FN&S) - valuable sources of nutrients and pivotal in reducing risks of non-communicable disease., Methods: We systematically searched seven databases, identifying available published literature (1970-2018) evaluating impacts of water availability and salinity, temperature, carbon dioxide (CO2) and ozone (O3) on yields and nutritional quality of FN&S. Dose-response relationships were assessed and, where possible, mean yield changes relative to baseline conditions were calculated., Results: 81 papers on fruits and 24 papers on nuts and seeds were identified, detailing 582 and 167 experiments respectively. A 50% reduction in water availability and a 3-4dS/m increase in water salinity resulted in significant fruit yield reductions (mean yield changes: -20.7% [95%CI -43.1% to -1.7%]; and -28.2% [95%CI -53.0% to -3.4%] respectively). A 75-100% increase in CO2 concentrations resulted in positive yield impacts (+37.8%; [95%CI 4.1% to 71.5%]; and 10.1%; [95%CI -30.0% to 50.3%] for fruits and nuts respectively). Evidence on yield impacts of increased O3 concentrations and elevated temperatures (>25°C) was scarce, but consistently negative. The positive effect of elevated CO2 levels appeared to attenuate with simultaneous exposure to elevated temperatures. Data on impacts of environmental change on nutritional quality of FN&S were sparse, with mixed results., Discussion: In the absence of adaptation strategies, predicted environmental changes will reduce yields of FN&S. With global intake already well-below WHO recommendations, declining FN&S yields may adversely affect population health. Adaptation strategies and careful agricultural and food system planning will be essential to optimise crop productivity in the context of future environmental changes, thereby supporting and safeguarding sustainable and resilient food systems.

Against a backdrop of a rapidly changing food system and a growing population, characterisation of likely future diets in India can help to inform agriculture and health policies. We systematically searched six published literature databases and grey literature repositories up to January 2018 for studies projecting the consumption of foods in India to time points beyond 2018. The 11 identified studies reported on nine foods up to 2050: the available evidence suggests projected increases in per capita consumption of vegetables, fruit and dairy products, and little projected change in cereal (rice and wheat) and pulse consumption. Meat consumption is projected to remain low. Understanding and mitigating the impacts of projected dietary changes in India is important to protect public health and the environment., (© 2019 The Authors.)

Background: Although well-designed instruments to assess communication during medical interviews and complex encounters exist, assessment tools that differentiate between communication, empathy, decision-making, and moral judgment are needed to assess different aspects of communication during situations defined by ethical conflict. To address this need, we developed an assessment tool that differentiates competencies associated with practice in ethically challenging situations. The competencies are grouped into three distinct categories: communication skills, civility and respectful behavior, clinical and ethical judgment and decision-making., Objective: The overall objective of this project is to develop an assessment tool for ethically sensitive scenarios that measures the degree of respect for the attitudes and beliefs of patients and family members, the demands of clinical decision-making, and the success in dealing with ethical conflicts in the clinical context. In this article, we describe the research method we will use during the pilot-test study using the neonatal context to provide validity evidence to support the features of the Assessment Communication Tool for Ethics (ACT4Ethics) instrument., Methods: This study is part of a multiphase project designed according to modern validity principles including content, response process, internal structure, relation to other variables, and social consequences. The design considers threats to validity such as construct underrepresentation and factors exerting nonrandom influence on scores. This study consists of two primary steps: (1) train the raters in the use of the new tool and (2) pilot-test a simulation using an Objective Structured Clinical Examination. We aim to obtain a total of 90 independent assessments based on the performance of 30 trainees rated by 15 trained raters for analysis. A comparison of raters' responses will allow us to compute a measure of interrater reliability. We will additionally compare the results of ACT4Ethics with another existing instrument., Results: This study will take approximately 18 months to complete and the results should be available by September 2019., Conclusions: ACT4Ethics should allow clinician-teachers to assess and monitor the development of competency of trainees' judgments and communication skills when facing ethically sensitive clinical situations. The instrument will also guide the provision of meaningful feedback to ensure that trainees develop specific communication, empathy, decision-making, and ethical competencies., International Registered Report Identifier (irrid): PRR1-10.2196/12039., (©Thierry Daboval, Natalie Ward, Jordan R Schoenherr, Gregory P Moore, Caitlin Carew, Alicia Lambrinakos-Raymond, Emanuela Ferretti. Originally published in JMIR Research Protocols (http://www.researchprotocols.org), 08.05.2019.)

Introduction: Exercise training has been shown in numerous studies to improve lung function and asthma control in children with asthma. Swimming has been shown to be of benefit in children with asthma, but which form of exercise is better for asthmatics has not been determined to date. The aim of this study was to examine if swimming improved lung function and asthma symptoms in asthmatic children when compared with different forms of exercise and a control group., Methods: Subjects with asthma were randomly assigned to either one of three different exercise training groups (swimming, football, and basketball) or a control group. Spirometry was performed before and after and the subjects were asked to keep asthma diaries and perform daily peak flow measurements., Results: 41 children and adolescents between the ages of 9 and 16 participated in the study. After completing the training, children across all three exercise programs had significantly higher forced vital capacity (FVC) percentage values when compared to the control group. The swimming group demonstrated a significant increase in the percentage peak expiratory flow (PEF) following the exercise program when compared with the control group (78.3 ± 9.3 versus 89.0 ± 14.9, p = 0.04). All children on exercise training programs reported an improvement in their asthma symptoms via asthma diaries., Conclusion: This study suggests that a swimming training program is more beneficial in terms of peak flow measurements when compared with other exercise training programs.

PurposeGenetic testing is an integral diagnostic component of pediatric medicine. Standard of care is often a time-consuming stepwise approach involving chromosomal microarray analysis and targeted gene sequencing panels, which can be costly and inconclusive. Whole-genome sequencing (WGS) provides a comprehensive testing platform that has the potential to streamline genetic assessments, but there are limited comparative data to guide its clinical use.MethodsWe prospectively recruited 103 patients from pediatric non-genetic subspecialty clinics, each with a clinical phenotype suggestive of an underlying genetic disorder, and compared the diagnostic yield and coverage of WGS with those of conventional genetic testing.ResultsWGS identified diagnostic variants in 41% of individuals, representing a significant increase over conventional testing results (24%; P = 0.01). Genes clinically sequenced in the cohort (n = 1,226) were well covered by WGS, with a median exonic coverage of 40 × ±8 × (mean ±SD). All the molecular diagnoses made by conventional methods were captured by WGS. The 18 new diagnoses made with WGS included structural and non-exonic sequence variants not detectable with whole-exome sequencing, and confirmed recent disease associations with the genes PIGG, RNU4ATAC, TRIO, and UNC13A.ConclusionWGS as a primary clinical test provided a higher diagnostic yield than conventional genetic testing in a clinically heterogeneous cohort.

The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing the scope of practice for clinical geneticists. Many large institutions are making a significant investment in infrastructure and technology, allowing clinicians to access CGES, especially as health-care coverage begins to extend to clinically indicated genomic sequencing-based tests. Translating and realizing the comprehensive clinical benefits of genomic medicine remain a key challenge for the current and future care of patients. With the increasing application of CGES, it is necessary for geneticists and other health-care providers to understand its benefits and limitations in order to interpret the clinical relevance of genomic variants identified in the context of health and disease. New, collaborative working relationships with specialists across diverse disciplines (e.g., clinicians, laboratorians, bioinformaticians) will undoubtedly be key attributes of the future practice of clinical genetics and may serve as an example for other specialties in medicine. These new skills and relationships will also inform the development of the future model of clinical genetics training curricula. To address the evolving role of the clinical geneticist in the rapidly changing climate of genomic medicine, two Clinical Genetics Think Tank meetings were held that brought together physicians, laboratorians, scientists, genetic counselors, trainees, and patients with experience in clinical genetics, genetic diagnostics, and genetics education. This article provides recommendations that will guide the integration of genomics into clinical practice.Genet Med 18 11, 1075-1084.

Aim: Thiopurine S-methyltransferase (TPMT) testing is used in patients receiving thiopurines to identify enzyme deficiencies and risk for adverse drug reactions. It is uncertain whether genotyping is superior to phenotyping. The objectives were to conduct a systematic review of TPMT-test performance studies., Materials & Methods: Electronic and grey literature sources were searched for studies reporting test performance compared with a reference standard. Sixty-six eligible studies were appraised for quality., Results: Thirty phenotype-genotype and six phenotype-phenotype comparisons were of high quality. The calculated sensitivity and specificity for genotyping to identify a homozygous mutation ranged from 0.0-100.0% and from 97.8-100.0%, respectively., Conclusion: Clinical decision-makers require high-quality evidence of clinical validity and clinical utility of TPMT genotyping to ensure appropriate use in patients.