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CHD is an important phenotypic feature of chromosome 22q11.2 copy number variants. Biventricular repair is usually possible, however there are rare reports of patients with chromosome 22q copy number variants and functional single ventricle cardiac disease.
This is a single centre retrospective review of patients with chromosome 22q copy number variants who underwent staged single ventricle reconstructive surgery between 1 July, 1984 and 31 December, 2020.
Seventeen patients met inclusion criteria. The most common diagnosis was hypoplastic left heart syndrome (n = 8) and vascular anomalies were present in 13 patients. A microdeletion of the chromosome 22 A-D low-copy repeat was present in 13 patients, and the remaining had a duplication. About half of the patients had documented craniofacial abnormalities and/or hypocalcaemia, and developmental delay was very common. Fifteen patients had a Norwood operation, 10 patients had a superior cavopulmonary anastomosis, and 7 patients had a Fontan. Two patients had cardiac transplantation after Fontan. Overall survival is 64% at 1 year, and 58% at 5 and 10 years. Most deaths occurred following Norwood operation (n = 5).
CHD necessitating single ventricle reconstruction associated with chromosome 22q copy number variants is not common, but typically occurs as a variant of hypoplastic left heart syndrome with the usual cytogenetic microdeletion. The most common neonatal surgical intervention performed is the Norwood, where most of the mortality burden occurs. Associated anomalies and medical issues may cause additional morbidity after cardiac surgery, but survival is similar to infants with other types of single ventricle disease.
Cardiovascular disease (CVD) is the most common non-communicable disease occurring globally. Although previous literature has provided useful insights into the important role that diet plays in CVD prevention and treatment, understanding the causal role of diets is a difficult task considering inherent and introduced weaknesses of observational (e.g. not properly addressing confounders and mediators) and experimental research designs (e.g. not appropriate or well designed). In this narrative review, we organised current evidence linking diet, as well as conventional and emerging physiological risk factors, with CVD risk, incidence and mortality in a series of diagrams. The diagrams presented can aid causal inference studies as they provide a visual representation of the types of studies underlying the associations between potential risk markers/factors for CVD. This may facilitate the selection of variables to be considered and the creation of analytical models. Evidence depicted in the diagrams was systematically collected from studies included in the British Nutrition Task Force report on diet and CVD and database searches, including Medline and Embase. Although several markers and disorders linked to conventional and emerging risk factors for CVD were identified, the causal link between many remains unknown. There is a need to address the multifactorial nature of CVD and the complex interplay between conventional and emerging risk factors with natural and built environments, while bringing the life course into the spotlight.
Mass vaccination campaigns have been used effectively to limit the impact of communicable disease on public health. However, the scale of the coronavirus disease (COVID-19) vaccination campaign is unprecedented. Mass vaccination sites consolidate resources and experience into a single entity and are essential to achieving community (“herd”) immunity rapidly, efficiently, and equitably. Health care systems, local and regional public health entities, emergency medical services, and private organizations can rapidly come together to solve problems and achieve success. As medical directors at several mass vaccination sites across the United States, we describe key mass vaccination site concepts, including site selection, operational models, patient flow, inventory management, staffing, technology, reporting, medical oversight, communication, and equity. Lessons learned from experience operating a diverse group of mass vaccination sites will help inform not only sites operating during the current pandemic, but also may serve as a blueprint for future outbreaks of highly infectious communicable disease.
Compared to the general population, individuals with complex congenital heart disease are at increased risk for deficits in cognitive, neurodevelopmental, psychosocial, and physical functioning, resulting in a diminished health-related quality of life. These deficits have been well described over the past 25 years, but significant gaps remain in our understanding of the best practices to improve neurodevelopmental and psychosocial outcomes and health-related quality of life for individuals with paediatric and congenital heart disease. Innovative clinical, quality improvement, and research opportunities with collaboration across multiple disciplines and institutions were needed to address these gaps. The Cardiac Neurodevelopmental Outcome Collaborative was founded in 2016 with a described mission to determine and implement best practices of neurodevelopmental and psychosocial services for individuals and their families with paediatric and congenital heart disease through clinical, quality improvement, and research initiatives. The vision is to be a multi-centre, multi-national, multi-disciplinary group of healthcare professionals committed to working together and partnering with families to optimise neurodevelopmental outcomes for individuals with paediatric and congenital heart disease through clinical, quality, and research initiatives, intending to maximise quality of life for every individual across the lifespan. This manuscript describes the development and organisation of the Cardiac Neurodevelopmental Outcome Collaborative.
Over the last two decades, heart centres have developed strategies to meet the neurodevelopmental needs of children with congenital heart disease. Since the publication of guidelines in 2012, cardiac neurodevelopmental follow-up programmes have become more widespread. Local neurodevelopmental programmes, however, have been developed independently in widely varying environments. We sought to characterise variation in structure and personnel in cardiac neurodevelopmental programmes. A 31-item survey was sent to all member institutions of the Cardiac Neurodevelopmental Outcome Collaborative. Multidisciplinary teams at each centre completed the survey. Responses were compiled in a descriptive fashion. Of the 29 invited centres, 23 responded to the survey (79%). Centres reported more anticipated neurodevelopment visits between birth and 5 years of age (median 5, range 2–8) than 5–18 years (median 2, range 0–10) with 53% of centres lacking any standard for routine neurodevelopment evaluations after 5 years of age. Estimated annual neurodevelopment clinic volume ranged from 85 to 428 visits with a median of 16% of visits involving children >5 years of age. Among responding centres, the Bayley Scales of Infant and Toddler Development and Wechsler Preschool and Primary Scale of Intelligence were the most routinely used tests. Neonatal clinical assessment was more common (64%) than routine neonatal brain imaging (23%) during hospitalisation. In response to clinical need and published guidelines, centres have established formal cardiac neurodevelopment follow-up programmes. Centres vary considerably in their approaches to routine screening and objective testing, with many centres currently focussing their resources on evaluating younger patients.
Dinosaur body fossil material is rare in Scotland, previously known almost exclusively from the Great Estuarine Group on the Isle of Skye. We report the first unequivocal dinosaur fossil from the Isle of Eigg, belonging to a Bathonian (Middle Jurassic) taxon of uncertain affinity. The limb bone NMS G.2020.10.1 is incomplete, but through a combination of anatomical comparison and osteohistology, we determine it most likely represents a stegosaur fibula. The overall proportions and cross-sectional geometry are similar to the fibulae of thyreophorans. Examination of the bone microstructure reveals a high degree of remodelling and randomly distributed longitudinal canals in the remaining primary cortical bone. This contrasts with the histological signal expected of theropod or sauropod limb bones, but is consistent with previous studies of thyreophorans, specifically stegosaurs. Previous dinosaur material from Skye and broadly contemporaneous sites in England belongs to this group, including Loricatosaurus and Sarcolestes and a number of indeterminate stegosaur specimens. Theropods such as Megalosaurus and sauropods such as Cetiosaurus are also known from these localities. Although we find strong evidence for a stegosaur affinity, diagnostic features are not observed on NMS G.2020.10.1, preventing us from referring it to any known genera. The presence of this large-bodied stegosaur on Eigg adds a significant new datapoint for dinosaur distribution in the Middle Jurassic of Scotland.
The Fontan Outcomes Network was created to improve outcomes for children and adults with single ventricle CHD living with Fontan circulation. The network mission is to optimise longevity and quality of life by improving physical health, neurodevelopmental outcomes, resilience, and emotional health for these individuals and their families. This manuscript describes the systematic design of this new learning health network, including the initial steps in development of a national, lifespan registry, and pilot testing of data collection forms at 10 congenital heart centres.
Basal units – visibly distinct englacial structures near the ice-bed interface – warrant investigation for a number of reasons. Many are of unknown composition and origin, characteristics that could provide substantial insight into subglacial processes and ice-sheet history. Their significance, moreover, is not limited to near-bed depths; these units appear to dramatically influence the flow of surrounding ice. In order to enable improved characterization of these features, we develop and apply an algorithm that allows for the automatic detection of basal units. We use a tunable layer-optimized SAR processor to distinguish these structures from the bed, isochronous englacial layers and the ice-sheet surface, presenting a conceptual framework for the use of radio-echo character in the identification of ice-sheet features. We also outline a method by which our processor could be used to place observational constraints on basal units’ configuration, composition and provenance.
Ensuring appropriate review, approval, and oversight of research involving animals becomes increasingly complex when researchers collaborate across multiple sites. In these situations, it is important that the division of responsibilities is clear and that all involved parties share a common understanding. The National Institutes of Health Office of Laboratory Animal Welfare and the United States Department of Agriculture Animal Plant Health Inspection Service require an Institutional Animal Care and Use Committee (IACUC) to review the care and use of animals in research, and both agree that it is acceptable for one IACUC to review the work taking place at multiple institutions. With this in mind, several Harvard-affiliated hospitals and academic centers developed the Master Reciprocal Institutional Agreement for Animal Care and Use (Master IACUC Agreement) to support collaboration, decrease administrative burden, increase efficiencies, reduce duplicative efforts, and ensure appropriate protections for animals used in research. Locally, the Master IACUC Agreement has fostered greater collaboration and exchange while ensuring appropriate review and oversight of research involving animals. As multisite animal protocols become more prevalent, this Agreement could provide a model for a distributed, national network of IACUC reliance.
Pediatric trauma is one of the leading causes of child mortality and morbidity and is a major challenge for healthcare systems worldwide. Treatment of pediatric trauma requires special attention according to the unique needs of children, especially in children affected by severe trauma who require life-saving treatments. It is essential to examine the preparedness of Emergency Departments (EDs) for admitting and treating pediatric casualties.
To develop a model for admitting and treating pediatric trauma casualties in EDs.
Seventeen health professionals were interviewed using a semi-structured qualitative tool. A quantitative questionnaire was distributed among general and pediatric EDs’ medical and nursing staff. Following the qualitative and quantitative findings, another round of interviews was performed to identify constraints, to construct a “Current Reality Tree,” and develop a model for admission and management of pediatric casualties in EDs. The model was validated by the National Council for Trauma and Emergency Medicine.
Lack of uniformity was found regarding age limit and levels of injury of pediatric patients. Most study participants believe that severe pediatric casualties should be concentrated in designated medical centers and that minor and major pediatric casualties should be treated in pediatric rather that general EDs. Pediatric emergency medicine specialists are preferred as case managers for pediatric casualties. Significant diversity in pediatric-care training was found. Based on qualitative and quantitative findings, a model for the optimal admitting and managing of pediatric casualties was designed.
To provide the best care for pediatric casualties and regulate its key aspects, clear statutory guidelines should be formulated at national and local levels. The model developed in this study considers EDs’ medical teams and policy leaders’ perceptions, and hence its significant contribution. Implementation of the findings and their integration in pediatric trauma care in EDs can significantly improve pediatric emergency medical services.
Several grass and broadleaf weed species around the world have evolved multiple-herbicide resistance at alarmingly increasing rates. Research on the biochemical and molecular resistance mechanisms of multiple-resistant weed populations indicate a prevalence of herbicide metabolism catalyzed by enzyme systems such as cytochrome P450 monooxygenases and glutathione S-transferases and, to a lesser extent, by glucosyl transferases. A symposium was conducted to gain an understanding of the current state of research on metabolic resistance mechanisms in weed species that pose major management problems around the world. These topics, as well as future directions of investigations that were identified in the symposium, are summarized herein. In addition, the latest information on selected topics such as the role of safeners in inducing crop tolerance to herbicides, selectivity to clomazone, glyphosate metabolism in crops and weeds, and bioactivation of natural molecules is reviewed.
A study conducted as part of the development of the Eleventh International Classification of Mental Disorders for Primary Health Care (ICD-11 PHC) provided an opportunity to test the relationships among depressive, anxious and somatic symptoms in PHC.
Primary care physicians participating in the ICD-11 PHC field studies in five countries selected patients who presented with somatic symptoms not explained by known physical pathology by applying a 29-item screening on somatic complaints that were under study for bodily stress disorder. Patients were interviewed using the Clinical Interview Schedule-Revised and assessed using two five-item scales that measure depressive and anxious symptoms. Structural models of anxious-depressive symptoms and somatic complaints were tested using a bi-factor approach.
A total of 797 patients completed the study procedures. Two bi-factor models fit the data well: Model 1 had all symptoms loaded on a general factor, along with one of three specific depression, anxiety and somatic factors [x2 (627) = 741.016, p < 0.0011, RMSEA = 0.015, CFI = 0.911, TLI = 0.9]. Model 2 had a general factor and two specific anxious depression and somatic factors [x2 (627) = 663.065, p = 0.1543, RMSEA = 0.008, CFI = 0.954, TLI = 0.948].
These data along with those of previous studies suggest that depressive, anxious and somatic symptoms are largely different presentations of a common latent phenomenon. This study provides support for the ICD-11 PHC conceptualization of mood disturbance, especially anxious depression, as central among patients who present multiple somatic symptoms.
Whether monozygotic (MZ) and dizygotic (DZ) twins differ from each other in a variety of phenotypes is important for genetic twin modeling and for inferences made from twin studies in general. We analyzed whether there were differences in individual, maternal and paternal education between MZ and DZ twins in a large pooled dataset. Information was gathered on individual education for 218,362 adult twins from 27 twin cohorts (53% females; 39% MZ twins), and on maternal and paternal education for 147,315 and 143,056 twins respectively, from 28 twin cohorts (52% females; 38% MZ twins). Together, we had information on individual or parental education from 42 twin cohorts representing 19 countries. The original education classifications were transformed to education years and analyzed using linear regression models. Overall, MZ males had 0.26 (95% CI [0.21, 0.31]) years and MZ females 0.17 (95% CI [0.12, 0.21]) years longer education than DZ twins. The zygosity difference became smaller in more recent birth cohorts for both males and females. Parental education was somewhat longer for fathers of DZ twins in cohorts born in 1990–1999 (0.16 years, 95% CI [0.08, 0.25]) and 2000 or later (0.11 years, 95% CI [0.00, 0.22]), compared with fathers of MZ twins. The results show that the years of both individual and parental education are largely similar in MZ and DZ twins. We suggest that the socio-economic differences between MZ and DZ twins are so small that inferences based upon genetic modeling of twin data are not affected.