Publications by authors named "Kelly Jones"

207 Publications

A new test for autism spectrum disorder: Metabolic data from different cell types.

Data Brief 2021 Dec 23;39:107598. Epub 2021 Nov 23.

Greenwood Genetic Center, 101 Gregor Mendel Circle, Greenwood, SC 29646, USA.

Experiments employing the Phenotype Mammalian Microarray (PM-M) technology were performed on lymphoblastoid cell lines (LCLs) from individuals with autism spectrum disorder (ASD) and age-matched controls. We used the custom-made PM-M plate designed to assess differential utilization of the amino acid tryptophan. Multiple parameters such as the sample size, incubation time, and cell concentration have been tested, leading to optimized protocols and minimized background noise by variable selection while controlling for false discoveries. The assay generated data based on the production of nicotinamide adenine dinucleotide (NADH) in the presence of different compounds containing tryptophan and showed clear differences between ASD and control samples.
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http://dx.doi.org/10.1016/j.dib.2021.107598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633810PMC
December 2021

Adapting intervention approaches to new contexts: Three case studies of international adaptation of the Teen Online Problem Solving (TOPS) program.

Rehabil Psychol 2021 Nov;66(4):356-365

Department of Pediatrics, Division of Pediatric Rehabilitation Medicine, Cincinnati Children's Hospital Medical Center.

Purpose/objective: To describe the process of adapting the evidence-based Teen Online Problem Solving (TOPS) program, a telehealth problem-solving treatment addressing executive function and behavior regulation challenges in adolescents with traumatic brain injury, in Italy, New Zealand, and the United Kingdom. Research Method/Design: We describe the process of adapting and translating the TOPS program in 3 case studies with unique methods and samples. In Italy, 14 parents of adolescents with TBI participated in focus groups, and 2 adolescents with TBI and their parents and 2 physicians provided input on the resulting translation. In New Zealand, an independent Māori cultural advisor reviewed the content, and 6 adolescent-parent dyads and 2 health professionals completed the 10 modules independently over a five-week period to inform adaptation. In the United Kingdom, a team of neuropsychologists and a parent of an adolescent with ABI reviewed and adapted the content through successive iterations.

Results: In Italy, suggested changes included greater emphasis on nonverbal communication and clearer examples of inappropriate problem-solving responses. In New Zealand, parents and adolescents rated the program as acceptable and helpful. Suggestions included incorporating familiar Māori settings, integrating religion, and developing videos with New Zealand adolescents. In the United Kingdom, iterative refinements focused on adapting TOPS for other acquired brain injuries and reflecting cross-national differences (e.g., drinking age).

Conclusions/implications: These 3 case studies suggest that programs such as TOPS developed in 1 cultural context can be broadly acceptable in other contexts, with adaptations focusing on tailoring to reflect the unique cultural and linguistic setting. (PsycInfo Database Record (c) 2021 APA, all rights reserved).
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http://dx.doi.org/10.1037/rep0000414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7612083PMC
November 2021

Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study.

Qual Life Res 2021 Nov 27. Epub 2021 Nov 27.

Neurology Department, Auckland City Hospital, Auckland, New Zealand.

Objectives: To determine the impact of genetic muscle disorders and identify the sociodemographic, illness, and symptom factors influencing quality of life.

Methods: Adults (aged 16-90 years) with a confirmed clinical or molecular diagnosis of a genetic muscle disorder identified as part of a nationwide prevalence study were invited to complete an assessment of the impact of their condition. Quality of life was measured using the World Health Organization Quality of Life questionnaire. Impact was measured via the prevalence of symptoms and comparisons of quality of life against New Zealand norms. Multivariate regression models were used to identify the most significant predictors of quality of life domains.

Results: 490/596 participants completed the assessment (82.2% consent rate). Quality of life was lower than the general population on physical (t = 9.37 p < 0.0001, d = 0.54) social (t = 2.27 p = 0.02, d = 0.13) and environmental domains (t = 2.28 p = 0.02, d = 0.13), although effect sizes were small. No difference was found on the psychological domain (t = - 1.17 p = 0.24, d = 0.07). Multivariate regression models (predicting 42%-64% of the variance) revealed personal factors (younger age, being in employment and in a relationship), symptoms (lower pain, fatigue, and sleep difficulties), physical health (no need for ventilation support, fewer activity limitations and no comorbidities), and psychosocial factors (lower depression, anxiety, behavioural dyscontrol and higher self-efficacy, satisfaction with health care and social support) contributed to improved quality of life.

Conclusions: A range of factors influence the quality of life in adults diagnosed with a genetic muscle disorder and some may serve as targets for multi-faceted intervention.
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http://dx.doi.org/10.1007/s11136-021-03046-2DOI Listing
November 2021

Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.

Clin Genet 2022 01 27;101(1):87-100. Epub 2021 Oct 27.

Greenwood Genetic Center, Greenwood, South Carolina, USA.

Phelan-McDermid syndrome (PMS) (OMIM*606232) is a rare genetic disorder characterized by intellectual disability, autistic features, speech delay, minor dysmorphia, and seizures. This study was conducted to investigate the prevalence of seizures and the association with genetic and metabolic features since there has been little research related to seizures in PMS. For 57 individuals, seizure data was collected from caregiver interviews, genetic data from existing cytogenetic records and Sanger sequencing for nine 22q13 genes, and metabolic profiling from the Phenotype Mammalian MicroArray (PM-M) developed by Biolog. Results showed that 46% of individuals had seizures with the most common type being absence and grand-mal seizures. Seizures were most prevalent in individuals with pathogenic SHANK3 mutations (70%), those with deletion sizes >4 Mb (16%), and those with deletion sizes <4 Mb (71%) suggesting involvement of genes in addition to SHANK3. Additionally, a 3 Mb genomic region on 22q13.31 containing the gene TBC1D22A, was found to be significantly associated with seizure prevalence. A distinct metabolic profile was identified for individuals with PMS with seizures and suggested among other features a disrupted utilization of main energy sources using Biolog plates. The results of this study will be helpful for clinicians and families in anticipating seizures in these children and for researchers to identify candidate genes for the seizure phenotype.
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http://dx.doi.org/10.1111/cge.14074DOI Listing
January 2022

Using internet search data to understand information seeking behavior for health and conservation topics during the COVID-19 pandemic.

Biol Conserv 2021 May 23;257:109078. Epub 2021 Mar 23.

National Socio-Environmental Synthesis Center, University of Maryland, Annapolis, MD 21401, USA.

Emerging zoonotic diseases, such as COVID-19, exist at the intersection of human health and the environment. Public interest and support are required to maximize the effectiveness of policies to combat the current pandemic and prevent future outbreaks of zoonoses. Here, we use internet search data from the United States to investigate changes in public information seeking about topics at the intersection of health and the environment during the COVID-19 pandemic. Using breakpoint detection methods, we identify sharp increases in interest for 'wildlife trade', 'bats', and 'pangolins' in the early stages of the pandemic (on Jan. 12, Jan. 19, and Jan. 26, 2020, respectively). Network analyses also revealed increasing connectivity between terms related to human health and the environment, as well as the emergence of novel search terms pointing to a greater interest in wildlife trade and consumption. During the pandemic, the network connectivity between coronavirus keywords and conservation keywords increased, which we measured using the number of unique connections (edge connectivity, k' (G)) and the number of simple paths (Sp) between keywords. Both measures of network connectivity increased between 'coronavirus' and 'bats' or 'pangolins' (Δk' (G) = 1, ΔSp = 37), and between 'coronavirus' and 'conservation' (Δk' (G) = 1, ΔSp = 160). These findings suggest that policy and outreach efforts aimed at engaging public interest in intersectional approaches to pandemic prevention (eg: One Health, Planetary Health), may be able to take advantage of increases in public information seeking following catalyzing events during the pandemic. Further monitoring is needed to determine if these changes persist over time.
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http://dx.doi.org/10.1016/j.biocon.2021.109078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460288PMC
May 2021

Observed physical activity among Latinx and White men and women on a new urban trail.

Public Health Nurs 2021 Sep 19. Epub 2021 Sep 19.

National Institute on Minority Health and Health Disparities, National Institutes of Health, Bethesda, Maryland, USA.

Objective: Despite efforts to increase physical activity through new green space infrastructure such as trails, disparities in physical activity may persist. The current study compared observed vigorous physical activity (VPA) engagement among White and Latinx men and women on a new urban trail, and whether engagement varied over time.

Design, Sample, And Measures: We used a modified System for Observing Play and Recreation in Communities (SOPARC) methodology to determine observed race/ethnicity, gender, and physical activity level of trail users (n = 15,109).

Results: Logistic regression analyses revealed the odds of engaging in VPA were lower for Latina women than all other population subgroups (vs. White men: OR 0.19, CI 0.17-0.22; vs. White women: OR 0.48, CI 0.42-0.54, vs. Latino men: OR 0.23, CI 0.19-0.26). VPA engagement by White and Latina women increased across the study years (OR 1.31, CI 1.17-1.46; OR 1.36, CI 1.08-1.71, respectively) but did not differ significantly by year for White and Latino men.

Conclusion: Future efforts to address racial/ethnic-gender disparities in VPA should take an intersectional approach to ensure that the needs of the most vulnerable population subgroups are properly accounted for.
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http://dx.doi.org/10.1111/phn.12963DOI Listing
September 2021

Executive Functioning Predicts Adaptive Functioning and Self-Care Independence in Pediatric Sickle Cell Disease.

J Pediatr Psychol 2021 Sep 15. Epub 2021 Sep 15.

Division of Hematology, St. Christopher's Hospital for Children, Philadelphia, PA, USA.

Objective: This study examined the impact of executive functioning (EF) on adaptive functioning and self-care independence in pre-transition youth with sickle cell disease (SCD).

Methods: Thirty-four youth with SCD (ages 12-18 years) completed a brief neuropsychological battery and their caregivers completed questionnaires assessing adaptive functioning, EF behaviors, and independence in completing self-care tasks, including disease management. Hierarchical linear regression analyses were utilized to investigate if EF predicted significantly more variability in adaptive functioning and self-care independence than what is accounted for by socioeconomic status (SES), disease knowledge, and estimated intellectual functioning.

Results: Mean performance on standardized measures assessing working memory, processing speed, and EF skills fell in the low average range. Performance-based EF and caregiver-reported EF behaviors predicted variance in adaptive functioning and self-care independence above and beyond that accounted for by SES, disease knowledge, and intelligence, with moderate to large effect sizes.

Conclusions: EF skills may support the ability of youth with SCD to adequately achieve independence in self-care, including medical self-care, and other adaptive skills, which may increase the likelihood of successful transition to young adulthood. These findings provide support for the role of neuropsychological screening and individualized intervention in interdisciplinary transition programs.
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http://dx.doi.org/10.1093/jpepsy/jsab094DOI Listing
September 2021

Carbapenemase production among less-common Enterobacterales genera: 10 US sites, 2018.

JAC Antimicrob Resist 2021 Sep 4;3(3):dlab137. Epub 2021 Sep 4.

Division of Healthcare Quality Promotion, Centers for Disease Control and Prevention, U.S. Department of Health and Human Services, Atlanta, GA, USA.

Background: Historically, United States' carbapenem-resistant Enterobacterales (CRE) surveillance and mechanism testing focused on three genera: , , and (EsKE); however, other genera can harbour mobile carbapenemases associated with CRE spread.

Objectives: From January through May 2018, we conducted a 10 state evaluation to assess the contribution of less common genera (LCG) to carbapenemase-producing (CP) CRE.

Methods: State public health laboratories (SPHLs) requested participating clinical laboratories submit all Enterobacterales from all specimen sources during the surveillance period that were resistant to any carbapenem (Morganellaceae required resistance to doripenem, ertapenem, or meropenem) or were CP based on phenotypic or genotypic testing at the clinical laboratory. SPHLs performed species identification, phenotypic carbapenemase production testing, and molecular testing for carbapenemases to identify CP-CRE. Isolates were categorized as CP if they demonstrated phenotypic carbapenemase production and ≥1 carbapenemase gene ( , , , , or ) was detected.

Results: SPHLs tested 868 CRE isolates, 127 (14.6%) were from eight LCG. Overall, 195 (26.3%) EsKE isolates were CP-CRE, compared with 24 (18.9%) LCG isolates. LCG accounted for 24 (11.0%) of 219 CP-CRE identified. spp. was the most common CP-LCG; the proportion of that were CP (11/42, 26.2%) was similar to the proportion of EsKE that were CP (195/741, 26.3%). Five of 24 (20.8%) CP-LCG had a carbapenemase gene other than .

Conclusions: Participating sites would have missed approximately 1 in 10 CP-CRE if isolate submission had been limited to EsKE genera. Expanding mechanism testing to additional genera could improve detection and prevention efforts.
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http://dx.doi.org/10.1093/jacamr/dlab137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8417453PMC
September 2021

You only get one brain. Adult reflections on acute and ongoing symptom experiences after traumatic brain injury in adolescence.

Brain Inj 2021 08 6;35(10):1308-1315. Epub 2021 Sep 6.

National Institute for Stroke and Applied Neurorehabilitation, Auckland University of Technology, Auckland, New Zealand.

Background: This research adds to the scarce literature regarding adolescent experiences of traumatic brain injury (TBI). It uses a qualitative methodology to explore the symptoms experienced after sustaining a TBI at this unique stage of development including their persistence into adulthood.

Methods: Thirteen adults (aged 20-25 years; mean 23 years) who sustained a mild-moderate TBI during adolescence (aged 13-17 years at injury), approximately 7.7 years (range = 6.7-8.0 years) prior, participated in the research. Semi-structured individual interviews, analyzed using thematic analysis, explored participants' experiences surrounding and following their TBIs.

Results: TBI during adolescence can result in significant acute symptoms, particularly headaches, fatigue, and difficulties in thinking. Participants' descriptions of the extent and impact of these symptoms reflected feelings of frustration and often anxiety and/or depression. Difficulties could persist for years post-TBI and sometimes had not resolved at all.

Conclusions: Even mild TBI during adolescence can result in significant acute and ongoing symptoms, which can contribute to emotional distress in the long term.
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http://dx.doi.org/10.1080/02699052.2021.1972336DOI Listing
August 2021

The Effects of Spinal Manipulation on Oculomotor Control in Children with Attention Deficit Hyperactivity Disorder: A Pilot and Feasibility Study.

Brain Sci 2021 Aug 6;11(8). Epub 2021 Aug 6.

Centre for Chiropractic Research, New Zealand College of Chiropractic, Auckland 1060, New Zealand.

Attention Deficit Hyperactivity Disorder (ADHD) is a prevalent, chronic neurodevelopmental disorder that affects oculomotor (eye movement) control. Dysfunctional oculomotor control may result in reading or educational difficulties. This randomized controlled crossover study sought to investigate the feasibility of a larger scale trial and effects of a single session of spinal manipulation on oculomotor control in children with ADHD. Thirty children participated in the study and were randomized into either control-first or spinal manipulation first groups. The results indicate that the trial was feasible. Secondary outcomes showed that there was a significant decrease in reading time after the spinal manipulation intervention compared to the control intervention. Future studies of the effects of spinal manipulation on oculomotor control in children with ADHD are suggested.
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http://dx.doi.org/10.3390/brainsci11081047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394036PMC
August 2021

Parent and Teacher-Reported Child Outcomes Seven Years After Mild Traumatic Brain Injury: A Nested Case Control Study.

Front Neurol 2021 23;12:683661. Epub 2021 Jul 23.

School of Clinical Sciences, National Institute for Stroke and Applied Neurosciences, Auckland University of Technology, Auckland, New Zealand.

Increasing evidence suggests potential lifetime effects following mild traumatic brain injury (TBI) in childhood. Few studies have examined medium-term outcomes among hospitalized and non-hospitalized samples. Study aims were to describe children's behavioral and emotional adjustment, executive function (EF), quality of life, and participation at 7-years following mild TBI using parents' and teachers' reports. Nested case control study of 86 children (68% male, mean age at assessment = 11.27 years; range 7-17 years) who sustained a mild TBI 7-years previously, identified from a prospective, population-based study. They were compared to 69 children free from TBI (61% male, mean age at assessment = 11.12 years; range 5-17 years). In addition to parent-reported socio-demographic details, parents (mild TBI = 86, non-TBI = 69) completed age-appropriate standardized questionnaires about children's health-related quality of life, behavioral and emotional adjustment, EF, and social participation. Parents own mood was assessed using the Hospital Anxiety and Depression Scale. Teachers (mild TBI = 53, non-TBI = 42) completed questionnaires about children's behavioral and emotional adjustment, and EF. Parent reports showed median group-level scores for cases were statistically significantly greater than controls for emotional symptoms, conduct problems, hyperactivity/inattention, total behavioral difficulties, inhibitory control, shifting, planning/organizing, and Global Executive Composite (total) EF difficulties (-values 0.001-0.029). Parent reports of child quality of life and social participation were similar, as were teacher reports of child behavioral and emotional adjustment, and EF ( > 0.05). When examining clinical cut-offs, compared to controls, cases had a higher risk of parent-reported total EF difficulties (odds ratio = 3.00) and, to a lesser extent, total behavior problems (odds ratio = 2.51). As a group, children with a history of mild TBI may be at elevated risk for clinically significant everyday EF difficulties in the medium-term compared to non-TBI controls, as judged by their parents. Further multi-informant longitudinal research is required, following larger samples. Aspects requiring particular attention include pre-injury characteristics, such as sleep disturbances and comorbidities (e.g., headaches), that may act as potential confounders influencing the association between mild TBI and child behavioral problems.
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http://dx.doi.org/10.3389/fneur.2021.683661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8342814PMC
July 2021

The role of prior sleep for divergent thinking in infants.

J Sleep Res 2021 Aug 1:e13457. Epub 2021 Aug 1.

Auckland University of Technology, Auckland, New Zealand.

Higher-order cognitive functions seem particularly vulnerable to disruptions in prior sleep in school-aged children and adult populations. This study tested whether divergent thinking in infants varied as a function of prior sleep. Forty-three infants aged 13-16 months participated in a behavioural assessment of divergent thinking. Length of wakefulness since last sleep was experimentally manipulated. In addition, potential relations between divergent thinking and sleep quantity and quality during the night immediately before the assessment, as well as during three consecutive nights preceding the assessment, were examined using actigraphy recordings in combination with parent diaries. Divergent thinking was not impaired by lack of sleep within the previous 4 h. Divergent thinking was consistently related to night-time sleep quality and quantity prior to the assessment. These results suggest that timing of prior naturally occurring daytime sleep is less relevant for emergent divergent thinking capacity than quality and quantity of preceding night-time sleep.
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http://dx.doi.org/10.1111/jsr.13457DOI Listing
August 2021

Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.

PLoS One 2021 6;16(7):e0253859. Epub 2021 Jul 6.

Greenwood Genetic Center, Greenwood, SC, United States of America.

Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities (e.g., terminal or interstitial deletions, translocations, ring chromosomes, or SHANK3 variants). Position effects have been shown to affect gene expression and function and play a role in the clinical presentation of various genetic conditions. This study employed a topologically associating domain (TAD) analysis approach to investigate position effects of chromosomal rearrangements on selected candidate genes mapped to 22q13 in 81 individuals with PMS. Data collected were correlated with clinical information from these individuals and with expression and metabolic profiles of lymphoblastoid cells from selected cases. The data confirmed TAD predictions for genes encompassed in the deletions and the clinical and molecular data indicated clear differences among individuals with different 22q13 deletion sizes. The results of the study indicate a positive correlation between deletion size and phenotype severity in PMS and provide evidence of the contribution of other genes to the clinical variability in this developmental disorder by reduced gene expression and altered metabolomics.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0253859PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8259982PMC
November 2021

Cognitive Stabilization Intervention during the Era of COVID-19.

Dev Neuropsychol 2021 Jul 5:1-16. Epub 2021 Jul 5.

Private Practice, Boston & Woburn, Massachusetts, USA.

As COVID-19 halted traditional neuropsychological assessment due to infection risk, neuropsychologists considered alternative practice models. Cognitive stabilization intervention (CSI) via telehealth, was developed to stabilize cognition in advance of neuropsychological assessment. It incorporates elements of evidence-based treatments, including cognitive training, sleep training, and medication adherence training within a motivational interview framework. Two case vignettes are described. One vignette describes an elder man who received CSI to manage sleep difficulties, forgetfulness, and mood symptoms. Another vignette describes a woman who completed CSI following an autoimmune disorder episode to improve sleep, organization, and attention. The benefits and limitations of CSI are discussed.
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http://dx.doi.org/10.1080/87565641.2021.1943398DOI Listing
July 2021

Coping in Children and Adolescents with a Genetic Muscle Disorder -Findings from a Population-Based Study.

J Neuromuscul Dis 2021 ;8(6):1069-1078

National Institute for Stroke and Applied Neurosciences, School of Clinical Sciences, Faculty of Health and Environmental Sciences, Auckland University of Technology, Auckland, New Zealand.

Background: The impacts of genetic muscle disorders on quality of life in affected children are well-documented. However, few studies have investigated children's coping strategies and relationships between coping and quality of life.

Objectives: To determine coping strategy use, efficacy, and associations with quality of life in children with a genetic muscle disorder.

Methods: Forty-eight children (6-15 years, 58% male) with a genetic muscle disorder were identified as part of a national prevalence study. Children completed the Kidcope in response to a specific stressor (doctors visits) and the Pediatric Quality of Life Inventory Neuromuscular Module.

Results: 'Wishful thinking' (75%, 36/48) and 'cognitive restructuring' (71%, 34/48) were the most frequently used coping strategies. 'Self-criticism' (12%, 6/48), and 'blaming others' and 'resignation' (both 19%, 9/48) were the least used strategies. Coping strategy use did not differ across age and sex groups (p's from 0.08 to 1.00). Positive coping strategies tended to be more effective (medians ranged from 2.00 to 2.75) than negative strategies (medians ranged from 1.38 to 2.50). Using a greater number of different types of positive (F(4, 46) = 5.79, p = 0.001) and/or negative (F(4, 44) = 5.64, p 0.001) coping strategies was linked to poorer health-related quality of life.

Conclusion: We conclude that children with genetic muscle disorders use a wide range of positive and/or negative coping strategies in response to stressors associated with a doctor visit and may benefit from greater support to improve health-related quality of life. Findings support the value of routine screening of children's coping to identify those who would benefit from support.
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http://dx.doi.org/10.3233/JND-200564DOI Listing
January 2021

Nutrition and physical activity interventions for the general population with and without cardiometabolic risk: a scoping review.

Public Health Nutr 2021 10 25;24(14):4718-4736. Epub 2021 May 25.

North American Spine Society, Burr Ridge, IL, USA.

Objective: The objective of this scoping review was to examine the research question: In the adults with or without cardiometabolic risk, what is the availability of literature examining interventions to improve or maintain nutrition and physical activity-related outcomes? Sub-topics included: (1) behaviour counseling or coaching from a dietitian/nutritionist or exercise practitioner, (2) mobile applications to improve nutrition and physical activity and (3) nutritional ergogenic aids.

Design: The current study is a scoping review. A literature search of the Medline Complete, CINAHL Complete, Cochrane Database of Systematic Reviews and other databases was conducted to identify articles published in the English language from January 2005 until May 2020. Data were synthesised using bubble charts and heat maps.

Setting: Out-patient, community and workplace.

Participants: Adults with or without cardiometabolic risk factors living in economically developed countries.

Results: Searches resulted in 19 474 unique articles and 170 articles were included in this scoping review, including one guideline, thirty systematic reviews (SR), 134 randomised controlled trials and five non-randomised trials. Mobile applications (n 37) as well as ergogenic aids (n 87) have been addressed in several recent studies, including SR. While primary research has examined the effect of individual-level nutrition and physical activity counseling or coaching from a dietitian/nutritionist and/or exercise practitioner (n 48), interventions provided by these practitioners have not been recently synthesised in SR.

Conclusion: SR of behaviour counseling or coaching provided by a dietitian/nutritionist and/or exercise practitioner are needed and can inform practice for practitioners working with individuals who are healthy or have cardiometabolic risk.
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http://dx.doi.org/10.1017/S1368980021002184DOI Listing
October 2021

What Is the Community Pharmacists' Role in Supporting Older Australians with Palliative Care Needs?

Healthcare (Basel) 2021 Apr 21;9(5). Epub 2021 Apr 21.

Research Centre for Palliative Care, Death and Dying, College of Nursing and Health Sciences, Flinders University, Bedford Park, SA 5042, Australia.

As the population ages, the number of older populations globally requiring palliative care is rapidly growing, requiring services of multidisciplinary teams-including community pharmacists. The aim of this study is to describe the community pharmacists' perceived role in providing services to community dwelling older Australians receiving palliative care. Utilising an eight-domain End of Life Directions for Aged Care (ELDAC) care model, a national cross-sectional questionnaire was designed and undertaken online with Australian community pharmacists. Respondents were asked questions relating to socio-demographic characteristics, practice characteristics, and scope of services provided. Of the 62 pharmacists who responded to the questionnaire, 51 were included in the final data analysis and reporting. Pharmacists working in dispensing roles made up about half of the respondents, while the remainder worked in settings such as general practice, residential aged care, or providing medication review services. Pharmacists can identify patients with indicators of poor life expectancy and mostly work with older Australians daily. Dispensing and non-dispensing pharmacists offer a range of services that complement each other. Organisations caring for the aged should consider the role of the pharmacist, in caring for people with palliative care needs, along with their carers.
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http://dx.doi.org/10.3390/healthcare9050489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8143164PMC
April 2021

Precautionary savings and shock-coping behaviors: Effects of promoting mobile bank savings on transactional sex in Kenya.

J Health Econ 2021 07 22;78:102460. Epub 2021 Apr 22.

Economics Department, Middlebury College, United States. Electronic address:

For the vulnerable, even small shocks can have significant short- and long-term impacts. Beneficial shock-coping mechanisms are not widely available in sub-Saharan Africa. We test whether an individual precautionary savings intervention can reduce a shock-coping behavior common in sub-Saharan Africa that has negative spillovers: transactional sex. Among a set of vulnerable women, we randomly assigned an intervention that promoted savings in a mobile banking account labeled for goals and emergency expenses. We find that a majority of individuals adopt the mobile account and the intervention led to reductions in transactional sex as a shock-coping response, and a decrease in symptoms of sexually transmitted infections. Changes are sustained in the medium-term among sex workers, but not among other vulnerable women.
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http://dx.doi.org/10.1016/j.jhealeco.2021.102460DOI Listing
July 2021

Associations between Daily Work Hassles and Energy-Balance Behaviors in Female African American Workers: An Ecological Momentary Assessment Study.

Ethn Dis 2021 15;31(2):177-186. Epub 2021 Apr 15.

National Institute of Nursing Research, National Institutes of Health, Bethesda, MD.

Objective: Despite their high rate of labor force participation, African American women earn less and are overrepresented in service jobs that tend to have fewer benefits, longer work hours, and less flexibility. The aim of our study was to examine associations between work-related daily hassles and energy balance behaviors among female African American workers.

Design: A secondary analysis of a 7-day intensive longitudinal study using ecological momentary assessment (EMA).

Setting: Metropolitan area of Chicago, Illinois, United States; July 2012 through January 2013.

Participants: A convenience sample of 70 female African American workers.

Methods: EMA was used to collect information over seven days on work hassles and energy balance behaviors: empty calorie food intake; moderate-to-vigorous physical activity (MVPA); sedentary behavior; sleep duration; and sleep disturbance. Within-person associations between daily work hassles and each of these daily energy balance behaviors were analyzed using person fixed-effects regression.

Results: A total of 334 person-day observations from 70 female African American workers were included in the final analysis. Reporting at least one daily work hassle was associated with same-day higher empty calorie food intake (OR: 2.2, 95% CI: 1.0, 4.6) and more daily minutes of sedentary behavior (b: 35.8, 95% CI; .2, 71.3). However, no significant associations were found between prior-day work hassles and either food intake or sedentary behavior. Daily work hassles were not related to MVPA, sleep duration, or sleep disturbance.

Conclusions: Our study showed that daily work hassles were associated with female African American workers' empty calorie food intake and sedentary behaviors. Strategies to eliminate daily work hassles may help to improve their energy balance behaviors.
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http://dx.doi.org/10.18865/ed.31.2.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054876PMC
October 2021

[Formula: see text]The contribution of sluggish cognitive tempo to processing speed in survivors of pediatric brain tumors.

Child Neuropsychol 2021 10 18;27(7):960-972. Epub 2021 Apr 18.

Kennedy Krieger Institute Neuropsychology Department.

Sluggish Cognitive Tempo (SCT) describes a pattern of under-activity, poor initiation, and slowness. It was first reported within the Attention Deficit Hyperactivity Disorder (ADHD) literature and found to be positively associated with the inattentive symptoms of ADHD and negatively or not significantly associated with the hyperactivity/impulsivity symptoms of ADHD. SCT has since been considered applicable to the pediatric oncology population given the emergence of inattentive, sluggish symptoms secondary to cancer treatment. The present study examined the unique contribution of SCT to various processing speed skills in a clinical sample of pediatric brain tumor (BT) survivors in order to determine the degree to which SCT explained timed "cognitive" processing components. Measures included speeded naming, graphomotor speed, and speeded inhibition. Hierarchical linear regression analyses were used to predict performance-based measures of processing speed. After controlling for verbal ability and inattention, SCT, particularly Daydreamy SCT ( = -0.698, = 0.023), explained 28% of variance in speeded inhibition. SCT did not add significantly to the prediction of speeded naming or graphomotor speed. Findings suggest that the "daydreamy" aspect of SCT, rather than "sluggishness" per se, may be related to more complex, cognitively-demanding tasks with greater executive functioning burdens in BT survivors. Implications for intervention for oncology survivors as well as future research directions are discussed.
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http://dx.doi.org/10.1080/09297049.2021.1917529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574989PMC
October 2021

Methodology of the fatigue after stroke educational recovery group randomized controlled trial.

Int J Stroke 2022 Jan 9;17(1):120-124. Epub 2021 Apr 9.

National Institute for Stroke and Applied Neurosciences, 1410Auckland University of Technology, Auckland, New Zealand.

Rationale: Post-stroke fatigue affects up to 92% of stroke survivors, causing significant burden. Educational cognitive behavioral therapy fatigue groups show positive results in other health conditions.

Aims: FASTER will determine if educational cognitive behavioral therapy fatigue management group reduces subjective fatigue in adults post-stroke.

Design: Prospective, multi-centre, two-arm, single-blind, phase III RCT (parallel, superiority design), with blinded assessments at baseline, six weeks, and three months post-program commencement. With  = 200 (100 per group, 20% drop-out), the trial will have 85% power (2-sided,  = 0.05) to detect minimally clinically important differences of 0.60 (SD = 1.27) in fatigue severity scale and 1.70 points (SD = 3.6) in multidimensional fatigue inventory-20 at three months.

Outcomes: Primary outcomes are self-reported fatigue severity and dimensionality post-intervention (six weeks). Secondary outcomes include subjective fatigue at three months, and health-related quality of life, disability, sleep, pain, mood, service use/costs, and caregiver burden at each follow-up.

Discussion: FASTER will determine whether reduces fatigue post-stroke.Registered with the Australian New Zealand Clinical Trials Registry (ACTRN12619000626167).
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http://dx.doi.org/10.1177/17474930211006295DOI Listing
January 2022

Psychosocial functioning at 4-years after pediatric mild traumatic brain injury.

Brain Inj 2021 03 4;35(4):416-425. Epub 2021 Feb 4.

School of Clinical Sciences, Faculty of Health and Environmental Sciences, National Institute for Stroke and Applied Neurosciences, Auckland University of Technology, Auckland, New Zealand.

: Behavioral and emotional difficulties are reported following pediatric mild traumatic brain injury (TBI). But few studies have used a broad conceptual approach to examine children's long-term psychosocial outcomes. This study examines children's psychosocial outcomes at 4-years after mild TBI and associated factors. Parents of 93 children (<16 years) with mild TBI completed subscales of age-appropriate versions of the Strengths and Difficulties Questionnaire, the Behavior Rating Inventory of Executive Function, the Pediatric Quality of Life Inventory, and the Adolescent Scale of Participation questionnaire at 4-years post-injury. Mean group-level scores were statistically significantly higher for hyperactivity/inattention and lower for emotional functioning than published norms. Levels of participation were greater compared to those observed in normative samples. More than 19% met published criteria for clinically significant hyperactivity/inattention, emotional functioning problems, peer relationship problems, and social functioning difficulties. Lower family socio-economic status and greater parental anxiety and depression were associated with overall psychosocial difficulties. Findings indicate that as a group, children with mild TBI are characterized by elevated rates of behavioral, emotional, and social difficulties at 4-years post-injury. Parent mental health may be an untapped opportunity to support children's psychosocial development following mild TBI, with replication required in larger samples.
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http://dx.doi.org/10.1080/02699052.2021.1878553DOI Listing
March 2021

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Am J Hum Genet 2021 02 28;108(2):346-356. Epub 2021 Jan 28.

Department of Rehabilitation and Development, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, OR 97227, USA.

Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1 variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression, and a severe phenotype. In contrast, variants predicted to result in haploinsufficiency are associated with a milder clinical presentation. A similarly mild phenotype is observed for individuals with premature protein truncating variants that escape nonsense-mediated decay, which are transcriptionally active but mislocalized in the cell. Our results suggest that in-depth mutation-specific genotype-phenotype studies are essential to capture full disease complexity and to explain phenotypic variability.
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http://dx.doi.org/10.1016/j.ajhg.2021.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7895900PMC
February 2021

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.

Hum Genet 2021 Apr 3;140(4):681-690. Epub 2021 Jan 3.

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA.

Purpose: Nuclear receptor binding SET domain protein 1, NSD1, encodes a histone methyltransferase H3K36. NSD1 is responsible for the phenotype of the reciprocal 5q35.2q35.3 microdeletion-microduplication syndromes. We expand the phenotype and demonstrate the functional role of NSD1 in microduplication 5q35 syndrome.

Methods: Through an international collaboration, we report nine new patients, contributing to the emerging phenotype, highlighting psychiatric phenotypes in older affected individuals. Focusing specifically on the undergrowth phenotype, we have modeled the effects of Mes-4/NSD overexpression in Drosophila melanogaster.

Results: The individuals (including a family) from diverse backgrounds with duplications ranging in size from 0.6 to 4.5 Mb, have a consistent undergrowth phenotype. Mes-4 overexpression in the developing wing causes undergrowth, increased H3K36 methylation, and increased apoptosis. We demonstrate that altering the levels of insulin receptor (IR) rescues the apoptosis and the wing undergrowth phenotype, suggesting changes in mTOR pathway signaling. Leucine supplementation rescued Mes-4/NSD induced cell death, demonstrating decreased mTOR signaling caused by NSD1.

Conclusion: Given that we show mTOR inhibition as a likely mechanism and amelioration of the phenotype by leucine supplementation in a fly model, we suggest further studies should evaluate the therapeutic potential of leucine or branched chain amino acids as an adjunct possible treatment to ameliorate human growth and psychiatric phenotypes and propose inclusion of 5q35-microduplication as part of the differential diagnosis for children and adults with delayed bone age, short stature, microcephaly, developmental delay, and psychiatric phenotypes.
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http://dx.doi.org/10.1007/s00439-020-02240-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8733961PMC
April 2021

Deficits in higher visual area representations in a mouse model of Angelman syndrome.

J Neurodev Disord 2020 10 19;12(1):28. Epub 2020 Oct 19.

Department of Electrical & Computer Engineering, Neuroscience Research Institute, Center for BioEngineering, University of California Santa Barbara, 2002 BioEngineering Building; Mail code 5100, Santa Barbara, CA, 93106-5100, USA.

Background: Sensory processing deficits are common in individuals with neurodevelopmental disorders. One hypothesis is that deficits may be more detectable in downstream, "higher" sensory areas. A mouse model of Angelman syndrome (AS), which lacks expression of the maternally inherited Ube3a allele, has deficits in synaptic function and experience-dependent plasticity in the primary visual cortex. Thus, we hypothesized that AS model mice have deficits in visually driven neuronal responsiveness in downstream higher visual areas (HVAs).

Methods: Here, we used intrinsic signal optical imaging and two-photon calcium imaging to map visually evoked neuronal activity in the primary visual cortex and HVAs in response to an array of stimuli.

Results: We found a highly specific deficit in HVAs. Drifting gratings that changed speed caused a strong response in HVAs in wildtype mice, but this was not observed in littermate AS model mice. Further investigation with two-photon calcium imaging revealed the effect to be largely driven by aberrant responses of inhibitory interneurons, suggesting a cellular basis for higher level, stimulus-selective cortical dysfunction in AS.

Conclusion: Assaying downstream, or "higher" circuitry may provide a more sensitive measure for circuit dysfunction in mouse models of neurodevelopmental disorders.

Trial Registration: Not applicable.
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http://dx.doi.org/10.1186/s11689-020-09329-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7574469PMC
October 2020

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

Int J Neonatal Screen 2020 03 7;6(1):10. Epub 2020 Feb 7.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; (J.M.L.); (A.L.W.); (G.P.); (A.L.S.); (D.G.); (D.O.); (K.R.); (D.M.); (P.R.).

Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), dermatan sulfate (DS) and heparan sulfate (HS) are both substrates for α-l-iduronidase (IDUA). These GAGs are elevated in patients with MPS I and have been shown to be promising biomarkers for both primary and second-tier testing. Since February 2016, we have measured DS and HS in 1213 specimens submitted on infants at risk for MPS I based on newborn screening. Molecular correlation was available for 157 of the tested cases. Samples from infants with MPS I confirmed by molecular analysis all had significantly elevated levels of DS and HS compared to those with confirmed pseudodeficiency and/or heterozygosity. Analysis of our testing population and correlation with molecular results identified few discrepant outcomes and uncovered no evidence of false-negative cases. We have demonstrated that blood spot GAGs analysis accurately discriminates between patients with confirmed MPS I and false-positive cases due to pseudodeficiency or heterozygosity and increases the specificity of newborn screening for MPS I.
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http://dx.doi.org/10.3390/ijns6010010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422968PMC
March 2020

Rubinstein-Taybi syndrome in diverse populations.

Am J Med Genet A 2020 12 27;182(12):2939-2950. Epub 2020 Sep 27.

Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii, USA.

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p < .001), demonstrating excellent discrimination efficacy. The discrimination was, however, poor in the African group (AUC: 0.79; p = .145). Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP variants (AUC: 0.93). This study shows that clinical examination combined with facial analysis technology may enable earlier and improved diagnosis of RSTS in diverse populations.
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http://dx.doi.org/10.1002/ajmg.a.61888DOI Listing
December 2020

Design and fabrication of the Cubital Tunnel Control Orthosis (CTCO).

J Hand Ther 2021 Jul-Sep;34(3):500-503. Epub 2020 Aug 25.

Department of Orthopaedic Surgery, Brooke Army Medical Center, Ft. Sam Houston, TX, USA.

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http://dx.doi.org/10.1016/j.jht.2020.05.005DOI Listing
November 2021

Estimating global injuries morbidity and mortality: methods and data used in the Global Burden of Disease 2017 study.

Inj Prev 2020 10 24;26(Supp 1):i125-i153. Epub 2020 Aug 24.

Department of Pharmacy, Adigrat University, Adigrat, Ethiopia.

Background: While there is a long history of measuring death and disability from injuries, modern research methods must account for the wide spectrum of disability that can occur in an injury, and must provide estimates with sufficient demographic, geographical and temporal detail to be useful for policy makers. The Global Burden of Disease (GBD) 2017 study used methods to provide highly detailed estimates of global injury burden that meet these criteria.

Methods: In this study, we report and discuss the methods used in GBD 2017 for injury morbidity and mortality burden estimation. In summary, these methods included estimating cause-specific mortality for every cause of injury, and then estimating incidence for every cause of injury. Non-fatal disability for each cause is then calculated based on the probabilities of suffering from different types of bodily injury experienced.

Results: GBD 2017 produced morbidity and mortality estimates for 38 causes of injury. Estimates were produced in terms of incidence, prevalence, years lived with disability, cause-specific mortality, years of life lost and disability-adjusted life-years for a 28-year period for 22 age groups, 195 countries and both sexes.

Conclusions: GBD 2017 demonstrated a complex and sophisticated series of analytical steps using the largest known database of morbidity and mortality data on injuries. GBD 2017 results should be used to help inform injury prevention policy making and resource allocation. We also identify important avenues for improving injury burden estimation in the future.
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http://dx.doi.org/10.1136/injuryprev-2019-043531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7571362PMC
October 2020

What happens when the money runs out? Forest outcomes and equity concerns following Ecuador's suspension of conservation payments.

World Dev 2020 Dec 17;136:105124. Epub 2020 Aug 17.

University of Wisconsin-Madison, Department of Geography, Madison, WI, USA.

Payments for Ecosystem Services (PES) are now a prominent policy instrument for conserving tropical forests. PES are voluntary, direct, and contractual: an ES buyer pays an ES steward for adopting conservation practices for a fixed term. A defining feature of PES is its 'quid pro quo' conditionality, e.g. stewards are paid only if they deliver contracted conservation outcomes. Most studies on PES effectiveness focus on the compliance with contract conditions. By contrast, the 's compliance has received scant attention despite the fact that PES programs across the globe have delayed payments, suspended re-enrollment, or shut down altogether. 'Use-restricting' PES depend on the continued flow of funding to pay for conservation; however, institutional, political, and economic factors can disrupt or terminate PES funding. What happens when the PES money unexpectedly runs out? Do stewards continue to conserve or revert to their former practices? We use mixed methods to study equity concerns and forest outcomes of an unexpected, two-year interruption in conservation payments to 63 private landowners residing in Ecuador's Amazon and enrolled in the Socio Bosque program, compared to similar landowners who did not enroll. Using quasi-experimental methods, we found that during the payment suspension period enrolled properties did not maintain their conservation outcomes where deforestation pressures were high (e.g. close to roads). Where deforestation pressures were low, enrolled properties continued to conserve more, on average, than similar properties not enrolled. Findings from 40 interviews and 26 focus groups conducted before, during, and after the payment suspension exposed profound landowner uncertainty regarding their contract rights. Poor official communication and imbalanced PES contract terms reinforced power inequalities between the state and rural ES stewards. Our work highlights the need to plan for financial volatility and to protect participants' rights in PES contract design.
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http://dx.doi.org/10.1016/j.worlddev.2020.105124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7431125PMC
December 2020
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