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1.
Implement Sci Commun ; 5(1): 78, 2024 Jul 18.
Article in English | MEDLINE | ID: mdl-39026346

ABSTRACT

BACKGROUND: There has been increased attention to the need for, and the positive impact of, engaged or participatory science in recent years. Implementation scientists have an opportunity to leverage and contribute to engagement science (ES) through the systematic integration of engagement into implementation science (IS). The purpose of this study was to gather information from researchers and others to develop a prioritized list of research needs and opportunities at the intersection of IS and ES. METHODS: We conducted three Zoom-based focus groups with 20 researchers to generate a list of unmet needs, barriers, and to describe normative themes about use of ES and IS. Then a panel of nine experts in IS and/or engagement ranked the needs and barriers using a survey and met via a Zoom meeting to discuss and generate research opportunities and questions, with reference to the focus group outputs. RESULTS: Respondents and experts concurred on the importance of engagement in IS. Focus group participants reported 28 needs and barriers under the themes of 1) need for best practice guidance related to engagement processes and outcomes and 2) structural barriers to integrating ES in IS. The expert panel prioritized six structural barriers and four barriers related to generating best practice guidance, with corresponding recommendations on research opportunities. Example research opportunities related to engagement processes included: define "successful" engagement in IS contexts; adapt engagement tools and best practices from other disciplines into IS. Example research opportunities related to outcomes included: assess the impact of engagement on IS outcomes; examine engagement practices that lead to optimal engaged research. Example research opportunities related to structural barriers included: leverage research evidence to create structural changes needed to expand support for engaged IS; examine factors that influence institutional buy-in of engagement in IS. CONCLUSIONS: Research needs exist that relate to engagement processes, outcomes, and structural barriers, even for scientists who value engaged research. Expert panelists recommended sequential and reinforcing research opportunities that implementation and engagement scientists can tackle together to advance both fields and health equity. Future work should assess insights from broader invested parties, particularly patients and community members.

2.
Int J Neonatal Screen ; 10(2)2024 Jun 19.
Article in English | MEDLINE | ID: mdl-38920848

ABSTRACT

Duchenne muscular dystrophy (DMD) is an X-linked progressive disorder and the most common type of muscular dystrophy in children. As newborn screening (NBS) for DMD undergoes evaluation for the Recommended Uniform Screening Panel and is already mandated in multiple states, refining NBS algorithms is of utmost importance. NBS for DMD involves measuring creatine kinase-MM (CK-MM) concentration-a biomarker of muscle damage-in dried blood spots. The current test is FDA-approved for samples obtained less than 72 h after birth. Separate reference ranges are needed for samples collected later than 72 h after birth. In this study, we investigated the relationship between age and CK-MM in presumed healthy newborns to inform NBS algorithm designs. In patients with DMD, CK-MM is persistently elevated in childhood and adolescence, while it may be transiently elevated for other reasons in healthy newborns. CK-MM decrease over time was demonstrated by a population sample of 20,306 presumed healthy newborns tested between 0 and 60 days of life and repeat testing of 53 newborns on two separate days. In the population sample, CK-MM concentration was highest in the second 12 h period of life (median = 318 ng/mL) when only 57.6% of newborns tested below 360 ng/mL, the lowest previously published cutoff. By 72 h of age, median CK-MM concentration was 97 ng/mL, and 96.0% of infants had concentrations below 360 ng/mL. Between 72 h and 60 days, median CK-MM concentration ranged from 32 to 37 ng/mL. Establishing age-related cutoffs is crucial for optimizing the sensitivity and specificity of NBS for DMD.

3.
J Perinatol ; 2024 Jun 28.
Article in English | MEDLINE | ID: mdl-38942929

ABSTRACT

OBJECTIVE: To determine the association between initial delivery room (DR) ventilator (conventional mechanical ventilation [CMV] versus high frequency oscillatory ventilation [HFOV] and hospital outcomes for infants with severe congenital diaphragmatic hernia (CDH). STUDY DESIGN: Quasi-experimental design before/after introducing a clinical protocol promoting HFOV. The primary outcome was first blood gas parameters. Secondary outcomes included serial blood gas assessments, ECMO, survival, duration of ventilation, and length of hospitalization. RESULTS: First pH and CO2 were more favorable in the HFOV group (n = 75) than CMV group (n = 85), median (interquartile range (IQR)) pH 7.18 (7.03, 7.24) vs. 7.05 (6.93, 7.17), adjusted p-value < 0.001; median CO2 62.0 (46.0, 82.0) vs 85.9 (59.0, 103.0), adjusted p-value < 0.001. ECMO, survival, duration of ventilation, and length of hospitalization did not differ between groups in adjusted analysis. CONCLUSION: Among infants with severe CDH, initial DR HFOV was associated with improved early gas exchange with no adverse differences in hospital outcomes.

4.
Genes (Basel) ; 15(6)2024 Jun 11.
Article in English | MEDLINE | ID: mdl-38927701

ABSTRACT

Heifer conception rate to the first service (HCR1) is defined as the number of heifers that become pregnant to the first breeding service compared to the heifers bred. This study aimed to identify loci associated and gene sets enriched for HCR1 for heifers that were bred by artificial insemination (AI, n = 2829) or were embryo transfer (ET, n = 2086) recipients, by completing a genome-wide association analysis and gene set enrichment analysis using SNP data (GSEA-SNP). Three unique loci, containing four positional candidate genes, were associated (p < 1 × 10-5) with HCR1 for ET recipients, while the GSEA-SNP identified four gene sets (NES ≥ 3) and sixty-two leading edge genes (LEGs) enriched for HCR1. While no loci were associated with HCR1 bred by AI, one gene set and twelve LEGs were enriched (NES ≥ 3) for HCR1 with the GSEA-SNP. This included one gene (PKD2) shared between HCR1 AI and ET services. Identifying loci associated or enriched for HCR1 provides an opportunity to use them as genomic selection tools to facilitate the selection of cattle with higher reproductive efficiency, and to better understand embryonic loss.


Subject(s)
Embryo Transfer , Genome-Wide Association Study , Insemination, Artificial , Polymorphism, Single Nucleotide , Animals , Cattle/genetics , Female , Embryo Transfer/methods , Embryo Transfer/veterinary , Insemination, Artificial/veterinary , Pregnancy , Genome-Wide Association Study/methods , Fertilization/genetics , Breeding/methods , Pregnancy Rate , Genome/genetics
6.
PLoS One ; 19(5): e0302935, 2024.
Article in English | MEDLINE | ID: mdl-38717978

ABSTRACT

Introduction and establishment of non-indigenous species (NIS) has been accelerated on a global scale by climate change. NIS Magallana gigas' (formerly Crassostrea gigas') global spread over the past several decades has been linked to warming waters, specifically during summer months, raising the specter of more spread due to predicted warming. We tracked changes in density and size distribution of M. gigas in two southern California, USA bays over the decade spanning 2010-2020 using randomly placed quadrats across multiple intertidal habitats (e.g., cobble, seawalls, riprap) and documented density increases by 2.2 to 32.8 times at 7 of the 8 sites surveyed across the two bays. These increases in density were coincident with 2-4° C increases in median monthly seawater temperature during summer months, consistent with global spread of M. gigas elsewhere. Size frequency distribution data, with all size classes represented across sites, suggest now-regular recruitment of M. gigas. Our data provide a baseline against which to compare future changes in density and abundance of a globally-spread NIS of significant concern.


Subject(s)
Climate Change , Estuaries , Introduced Species , California , Animals , Ecosystem , Seasons , Crassostrea , Temperature
7.
Trauma Surg Acute Care Open ; 9(1): e001286, 2024.
Article in English | MEDLINE | ID: mdl-38737814

ABSTRACT

Background: Golf carts (GCs) and all-terrain vehicles (ATVs) are popular forms of personal transport. Although ATVs are considered adventurous and dangerous, GCs are perceived to be safer. Anecdotal experience suggests increasing numbers of both GC and ATV injuries, as well as high severity of GC injuries in children. This multicenter study examined GC and ATV injuries and compared their injury patterns, resource utilization, and outcomes. Methods: Pediatric trauma centers in Florida submitted trauma registry patients age <16 years from January 2016 to June 2021. Patients with GC or ATV mechanisms were identified. Temporal trends were evaluated. Injury patterns, resource utilization, and outcomes for GCs and ATVs were compared. Intensive care unit admission and immediate surgery needs were compared using multivariable logistic regression. Results: We identified 179 GC and 496 ATV injuries from 10 trauma centers. GC and ATV injuries both increased during the study period (R2 0.4286, 0.5946, respectively). GC patients were younger (median 11 vs 12 years, p=0.003) and had more intracranial injuries (34% vs 19%, p<0.0001). Overall Injury Severity Score (5 vs 5, p=0.27), intensive care unit (ICU) admission (20% vs 16%, p=0.24), immediate surgery (11% vs 11%, p=0.96), and mortality (1.7% vs 1.4%, p=0.72) were similar for GCs and ATVs, respectively. The risk of ICU admission (OR 1.19, 95% CI 0.74 to 1.93, p=0.47) and immediate surgery (OR 1.04, 95% CI 0.58 to 1.84, p=0.90) remained similar on multivariable logistic regression. Conclusions: During the study period, GC and ATV injuries increased. Despite their innocuous perception, GCs had a similar injury burden to ATVs. Heightened safety measures for GCs should be considered. Level of evidence: III, prognostic/epidemiological.

8.
AIDS Behav ; 2024 May 20.
Article in English | MEDLINE | ID: mdl-38767727

ABSTRACT

In 2022, 54% of 1.5 million children (age 0-14) living with HIV had access to anti-retroviral medication (ART). Adherence to ART for pregnant or breastfeeding HIV + women is critical for maintaining their personal health and to prevent mother-to-child-transmission (MTCT). For HIV + infants, adherence is essential to establish early viremic control and is contingent on caregiver administration. We conducted a scoping review to systematically identify and categorize the influences on ART adherence for pregnant or breastfeeding HIV + women and their HIV + infants. We searched databases in June 2023 and employed the Social-Ecological Model (SEM) to organize facilitators and barriers to adherence referenced in published articles. All articles published before 2016 were excluded due to updated guidelines from WHO on MTCT and ART. Our analysis included 52 articles. 50/52 took place in Africa and used cross-sectional and mixed-methods design. Barriers to adherence for pregnant or breastfeeding HIV + women included maternal education, self-efficacy, social support, and social/economic context. Barriers to infant adherence included development, nutrition, age of treatment initiation, disclosure, and ART side effects. Additional facilitators and barriers to adherence are presented at family, extra-familial, and socio-cultural SEM levels. Stigma was the most salient barrier referenced across the entire continuum of HIV care and all SEM levels. This review revealed a dearth of literature focusing on HIV + infants who are dependent on their caregivers for ART adherence and lack of a standard adherence measure. We identified multi-leveled influences on adherence impacting both the mother and infant and are amenable to public health intervention.

9.
Death Stud ; : 1-12, 2024 May 06.
Article in English | MEDLINE | ID: mdl-38709638

ABSTRACT

Religion and spirituality often influence how people experience illness, death, and grief. The roles of religion and spirituality for parents who have lost a child to cancer remain underexplored. This study aimed to describe how cancer-bereaved parents talk about religion and spirituality when reflecting on their experiences. Participants whose children died of cancer one to six years prior to participation completed a one-on-one semi-structured interview. Interview transcripts underwent qualitative analysis. Content pertaining to religion and/or spirituality underwent subsequent in-depth analysis to identify themes. Of 30 interviews analyzed, 28 contained religion/spirituality content. Four themes arose: (1) life after death, (2) divine control, (3) evolution of faith after loss, and (4) religious and spiritual interactions within the medical community. The absence of supports for religious and spiritual needs represents a gap in bereavement care. Future work should clarify needs and explore potential interventions.

10.
BMC Vet Res ; 20(1): 172, 2024 May 03.
Article in English | MEDLINE | ID: mdl-38702691

ABSTRACT

BACKGROUND: Lameness examinations are commonly performed in equine medicine. Advancements in digital technology have increased the use of video recordings for lameness assessment, however, standardization of ideal video angle is not available yielding videos of poor diagnostic quality. The objective of this study was to evaluate the effect of video angle on the subjective assessment of front limb lameness. A randomized, blinded, crossover study was performed. Six horses with and without mechanically induced forelimb solar pain were recorded using 9 video angles including horses trotting directly away and towards the video camera, horses trotting away and towards a video camera placed to the left and right side of midline, and horses trotting in a circle with the video camera placed on the inside and outside of the circle. Videos were randomized and assessed by three expert equine veterinarians using a 0-5 point scoring system. Objective lameness parameters were collected using a body-mounted inertial sensor system (Lameness Locator®, Equinosis LLC). Interobserver agreement for subjective lameness scores and ease of grading scores were determined. RESULTS: Induction of lameness was successful in all horses. There was excellent agreement between objective lameness parameters and subjective lameness scores (AUC of the ROC = 0.87). For horses in the "lame" trials, interobserver agreement was moderate for video angle 2 when degree of lameness was considered and perfect for video angle 2 and 9 when lameness was considered as a binary outcome. All other angles had no to fair agreement. For horses in the "sound" trials, interobserver agreement was perfect for video angle 5. All other video angles had slight to moderate agreement. CONCLUSIONS: When video assessment of forelimb lameness is required, a video of the horse trotting directly towards the video camera at a minimum is recommended. Other video angles may provide supportive information regarding lameness characteristics.


Subject(s)
Cross-Over Studies , Horse Diseases , Lameness, Animal , Video Recording , Animals , Horses , Lameness, Animal/diagnosis , Horse Diseases/diagnosis , Forelimb , Female , Male
11.
Appl Environ Microbiol ; 90(6): e0229323, 2024 Jun 18.
Article in English | MEDLINE | ID: mdl-38786361

ABSTRACT

Bacteria shape interactions between hosts and fungal pathogens. In some cases, bacteria associated with fungi are essential for pathogen virulence. In other systems, host-associated microbiomes confer resistance against fungal pathogens. We studied an aphid-specific entomopathogenic fungus called Pandora neoaphidis in the context of both host and pathogen microbiomes. Aphids host several species of heritable bacteria, some of which confer resistance against Pandora. We first found that spores that emerged from aphids that harbored protective bacteria were less virulent against subsequent hosts and did not grow on plate media. We then used 16S amplicon sequencing to study the bacterial microbiome of fungal mycelia and spores during plate culturing and host infection. We found that the bacterial community is remarkably stable in culture despite dramatic changes in pathogen virulence. Last, we used an experimentally transformed symbiont of aphids to show that Pandora can acquire host-associated bacteria during infection. Our results uncover new roles for bacteria in the dynamics of aphid-pathogen interactions and illustrate the importance of the broader microbiological context in studies of fungal pathogenesis. IMPORTANCE: Entomopathogenic fungi play important roles in the population dynamics of many insect species. Understanding the factors shaping entomopathogen virulence is critical for agricultural management and for the use of fungi in pest biocontrol. We show that heritable bacteria in aphids, which confer protection to their hosts against fungal entomopathogens, influence virulence against subsequent hosts. Aphids reproduce asexually and are typically surrounded by genetically identical offspring, and thus these effects likely shape the dynamics of fungal disease in aphid populations. Furthermore, fungal entomopathogens are known to rapidly lose virulence in lab culture, complicating their laboratory use. We show that this phenomenon is not driven by changes in the associated bacterial microbiome. These results contribute to our broader understanding of the aphid model system and shed light on the biology of the Entomophthorales-an important but understudied group of fungi.


Subject(s)
Aphids , Microbiota , Animals , Aphids/microbiology , Virulence , Host-Pathogen Interactions , Entomophthorales/pathogenicity , Entomophthorales/physiology , Entomophthorales/genetics , Bacteria/genetics , Bacteria/classification , Bacteria/pathogenicity , Bacteria/isolation & purification , Symbiosis , Spores, Fungal/growth & development , Spores, Fungal/pathogenicity
12.
Obes Sci Pract ; 10(2): e747, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38646612

ABSTRACT

Objective: The U.S. Army uses sex-specific circumference-based prediction equations to estimate percent body fat (%BF) to evaluate adherence to body composition standards. The equations are periodically evaluated to ensure that they continue to accurately assess %BF in a diverse population. The objective of this study was to develop and validate alternative field expedient equations that may improve upon the current Army Regulation (AR) body fat (%BF) equations. Methods: Body size and composition were evaluated in a representatively sampled cohort of 1904 active-duty Soldiers (1261 Males, 643 Females), using dual-energy X-ray absorptiometry (%BFDXA), and circumferences obtained with 3D imaging and manual measurements. Sex stratified linear prediction equations for %BF were constructed using internal cross validation with %BFDXA as the criterion measure. Prediction equations were evaluated for accuracy and precision using root mean squared error, bias, and intraclass correlations. Equations were externally validated in a convenient sample of 1073 Soldiers. Results: Three new equations were developed using one to three circumference sites. The predictive values of waist, abdomen, hip circumference, weight and height were evaluated. Changing from a 3-site model to a 1-site model had minimal impact on measurements of model accuracy and performance. Male-specific equations demonstrated larger gains in accuracy, whereas female-specific equations resulted in minor improvements in accuracy compared to existing AR equations. Equations performed similarly in the second external validation cohort. Conclusions: The equations developed improved upon the current AR equation while demonstrating robust and consistent results within an external population. The 1-site waist circumference-based equation utilized the abdominal measurement, which aligns with associated obesity related health outcomes. This could be used to identify individuals at risk for negative health outcomes for earlier intervention.

13.
Microb Physiol ; 2024 Apr 16.
Article in English | MEDLINE | ID: mdl-38626743

ABSTRACT

Pseudomonas stutzeri KC can rapidly degrade carbon tetrachloride (CCl4) to CO2 by a fortuitous reaction with pyridine-2,6-bis(thiocarboxylic acid), a metal chelator encoded by pdt genes. These genes were first identified after a spontaneous mutant, strain CTN1, lost the ability to degrade CCl4. Here we report the complete genome of strain KC and show that these pdt genes are located on an integrative and conjugative element (ICE), designated ICEPsstKC. Comparative genome analyses revealed homologues of pdt genes in genomes of members of other gammaproteobacterial orders. Discrepancies between the tree topologies of the deduced pdt gene products and the host phylogeny based on 16S rRNA provided evidence for horizontal gene transfer (HGT) in several sequenced strains of these orders. In addition to ICEPsstKC, HGT may be have been facilitated by other mobile genetic elements, as indicated by the location of the pdt gene cluster adjacent to fragments of other ICEs and prophages in several genome assemblies. We could here show that the majority of cells from the culture collection DSMZ had lost the ICE. The presence of the pdt gene cluster on mobile genetic elements has important implications for the bioremediation of CCl4 for bioremediation of CCl4 and needs consideration when selecting suitable strains.

14.
Am Surg ; 90(6): 1508-1513, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38566270

ABSTRACT

BACKGROUND: Adnexal torsion requires treatment to limit ischemic injury and tissue loss. Optimal time to surgical intervention has not been established. We compared outcomes of ovarian loss amongst pediatric patients. METHODS: We conducted a retrospective review of 88 patients with adnexal torsion from March 2014 through April 2021. Rates of ovarian loss were compared for patients who underwent surgery within and beyond 60 minutes from diagnosis. RESULTS: Most patients underwent surgery more than 60 minutes from the time of diagnosis (83%; median time 116 minutes). Comparing patients with and without ovarian loss, there was no statistically significant difference in time to surgery from time of diagnosis (P = .618). Patients with ovarian loss had a longer duration of symptoms (24 vs 96 hours; P = .017). CONCLUSIONS: While surgical repair of adnexal torsion may be urgent, this study suggests that duration of symptoms should be considered when assessing a patient's likelihood of ovarian loss.


Subject(s)
Ovarian Torsion , Humans , Female , Retrospective Studies , Ovarian Torsion/surgery , Child , Adolescent , Ovary/surgery , Time-to-Treatment , Adnexal Diseases/surgery , Time Factors , Child, Preschool
15.
J Perinatol ; 44(5): 694-701, 2024 May.
Article in English | MEDLINE | ID: mdl-38627594

ABSTRACT

OBJECTIVE: To develop a consensus guideline to meet nutritional challenges faced by infants with congenital diaphragmatic hernia (CDH). STUDY DESIGN: The CDH Focus Group utilized a modified Delphi method to develop these clinical consensus guidelines (CCG). Topic leaders drafted recommendations after literature review and group discussion. Each recommendation was sent to focus group members via a REDCap survey tool, and members scored on a Likert scale of 0-100. A score of > 85 with no more than 25% outliers was designated a priori as demonstrating consensus among the group. RESULTS: In the first survey 24/25 recommendations received a median score > 90 and after discussion and second round of surveys all 25 recommendations received a median score of 100. CONCLUSIONS: We present a consensus evidence-based framework for managing parenteral and enteral nutrition, somatic growth, gastroesophageal reflux disease, chylothorax, and long-term follow-up of infants with CDH.


Subject(s)
Consensus , Delphi Technique , Hernias, Diaphragmatic, Congenital , Humans , Hernias, Diaphragmatic, Congenital/therapy , Infant, Newborn , Infant , Gastroesophageal Reflux/therapy , Enteral Nutrition , Parenteral Nutrition , Chylothorax/therapy , Patient Discharge
16.
J Pediatr ; 271: 114061, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38636784

ABSTRACT

OBJECTIVES: To describe the scope of left ventricular (LV) dysfunction and left heart hypoplasia (LHH) in infants with congenital diaphragmatic hernia (CDH), to determine associations with CDH severity, and to evaluate the odds of extracorporeal membrane oxygenation (ECMO) and death with categories of left heart disease. STUDY DESIGN: Demographic and clinical variables were collected from a single-center, retrospective cohort of patients with CDH from January 2017 through May 2022. Quantitative measures of LV function and LHH were prospectively performed on initial echocardiograms. LHH was defined as ≥2 of the following: z score ≤ -2 of any left heart structure or LV end-diastolic volume <3 mL. LV dysfunction was defined as shortening fraction <28%, ejection fraction <60%, or global longitudinal strain <20%. The exposure was operationalized as a 4-group categorical variable (LV dysfunction +/-, LHH +/-). Logistic regression models evaluated associations with ECMO and death, adjusting for CDH severity. RESULTS: One hundred eight-two patients (80.8% left CDH, 63.2% liver herniation, 23.6% ECMO, 12.1% mortality) were included. Twenty percent demonstrated normal LV function and no LHH (LV dysfunction-/LHH-), 37% normal LV function with LHH (LV dysfunction-/LHH+), 14% LV dysfunction without LHH (LV dysfunction+/LHH-), and 28% both LV dysfunction and LHH (LV dysfunction+/LHH+). There was a dose-response effect between increasing severity of left heart disease, ECMO use, and mortality. LV dysfunction+/LHH + infants had the highest odds of ECMO use and death, after adjustment for CDH severity [OR (95% CI); 1.76 (1.20, 2.62) for ECMO, 2.76 (1.63, 5.17) for death]. CONCLUSIONS: In our large single-center cohort, patients with CDH with LV dysfunction+/LHH + had the highest risk of ECMO use and death.


Subject(s)
Extracorporeal Membrane Oxygenation , Hernias, Diaphragmatic, Congenital , Ventricular Dysfunction, Left , Humans , Hernias, Diaphragmatic, Congenital/complications , Hernias, Diaphragmatic, Congenital/mortality , Hernias, Diaphragmatic, Congenital/therapy , Male , Female , Retrospective Studies , Ventricular Dysfunction, Left/mortality , Infant, Newborn , Infant , Echocardiography , Severity of Illness Index
17.
J Pediatr ; 271: 114060, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38641166

ABSTRACT

OBJECTIVE: To evaluate genetic testing utilization and diagnostic yield in infants with esophageal atresia (EA)/tracheoesophageal fistula (TEF) over the past 12 years to inform future practices and individualize prognostication and management. STUDY DESIGN: A retrospective cohort study was performed for all infants with EA or EA/TEF hospitalized between January 2011 and January 2023 at a quaternary children's hospital. For each infant, demographic information, prenatal and postnatal history, and genetic testing were reviewed. RESULTS: There were 212 infants who were classified as follows: 1) complex/syndromic with EA/TEF plus an additional major anatomic anomaly (n = 114, of which 74 met VACTERL criteria); 2) isolated/nonsyndromic EA/TEF (n = 88) and 3) isolated/nonsyndromic EA (n = 10). A range of genetic tests were sent with varying diagnostic rates including karyotype analysis in 12 (all with complex/syndromic phenotypes and all positive), chromosomal microarray analysis in 189 (114 of whom were complex/syndromic with an overall diagnostic rate of 3/189), single gene testing for CHD7 in 18 (4 positive), and exome analysis in 37 complex/syndromic patients (8 positive). CONCLUSIONS: EA/TEF with and without additional anomalies is genetically heterogeneous with a broad range of associated phenotypes. While the genetic etiology of EA/TEF with or without VACTERL remains largely unknown, genome wide testing (exome or genome) including copy number analysis is recommended over chromosomal microarray testing. We anticipate that expanded genetic/genomic testing modalities such as RNA sequencing and tissue specific molecular testing are needed in this cohort to improve our understanding of the genomic contributors to EA/TEF.


Subject(s)
Esophageal Atresia , Genetic Testing , Tracheoesophageal Fistula , Humans , Tracheoesophageal Fistula/genetics , Tracheoesophageal Fistula/diagnosis , Esophageal Atresia/genetics , Esophageal Atresia/diagnosis , Retrospective Studies , Male , Female , Infant, Newborn , Infant , Genomics
18.
Can Med Educ J ; 15(1): 56-61, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38528893

ABSTRACT

Background: Social accountability (SA), as defined by Boelen and Heck, is the obligation of medical schools to address the needs of communities through education, research and service activities. While SA is embedded within health profession education frameworks in medicine, they are rarely taught within graduate-level (MSc/PhD) education. Methods: As these programs train future medical researchers, we invited first-year graduate students enrolled in a mandatory professionalism class at our institution (n = 111) to complete a survey on their perceptions of the importance of SA in their research, training, and future careers. Results: Over 80% (n = 87) of respondents agreed that SA is relevant and felt committed to integrating it into their future research activities, only a limited number of students felt confident and/or supported in their abilities to integrate SA into their research. Conclusions: Specific SA training in graduate education is necessary for students to effectively incorporate elements of SA into their research, and as such support the SA mandates of their training institutions. We posit that awareness of SA principles formalizes the professional standards for biomedical researchers and is thus foundational for developing a professionalism curriculum in graduate education programs in medicine. We propose an expansion of the World Health Organization (WHO) partnership pentagon to include partners within the research ecosystem (funding partners, certification bodies) that collaborate with biomedical researchers to make research socially accountable.


Contexte: La responsabilité sociale (RS), telle que définie par Boelen et Heck, est l'obligation pour les facultés de médecine de répondre aux besoins des communautés par l'entremise de l'éducation, de la recherche et des activités de service. Bien que la responsabilité sociale soit intégrée dans les cadres de formation des professionnels de santé en médecine, elle est rarement enseignée au niveau des études supérieures (MSc/PhD). Méthodes: Étant donné que ces programmes forment les futurs chercheurs médicaux, nous avons invité les étudiants de première année inscrits à un cours obligatoire sur le professionnalisme dans notre établissement (n = 111) à participer à une enquête sur leurs perceptions de l'importance de la RS dans leur recherche, leur formation et leur future carrière. Résultats: Plus de 80 % (n = 87) des répondants ont reconnu la pertinence de la RS et se sont engagés à l'intégrer dans leurs futures activités de recherche, mais seul un nombre limité d'étudiants se sont sentis confiants et/ou soutenus dans leurs capacités à intégrer la RS dans leur recherche. Conclusions: Une formation propre à la RS dans le cadre des études supérieures est nécessaire pour que les étudiants puissent intégrer efficacement des éléments de la RS dans leur recherche, et ainsi promouvoir les mandats de RS de leurs établissements de formation. Nous estimons que la sensibilisation aux principes de la RS formalise les normes professionnelles des chercheurs biomédicaux et qu'elle est donc fondamentale pour l'élaboration d'un programme de professionnalisme dans les programmes d'études supérieures en médecine. Nous proposons d'élargir le pentagone du partenariat de l'Organisation mondiale de la santé (OMS) pour y inclure les partenaires de l'écosystème de la recherche (partenaires financiers, organismes de certification) qui collaborent avec les chercheurs biomédicaux pour rendre la recherche socialement responsable.


Subject(s)
Biomedical Research , Medicine , Humans , Biomedical Research/education , Canada , Social Responsibility
19.
Plant Cell Environ ; 2024 Mar 27.
Article in English | MEDLINE | ID: mdl-38533601

ABSTRACT

As the global climate continues to change, plants will increasingly experience abiotic stress(es). Stomata on leaf surfaces are the gatekeepers to plant interiors, regulating gaseous exchanges that are crucial for both photosynthesis and outward water release. To optimise future crop productivity, accurate modelling of how stomata govern plant-environment interactions will be crucial. Here, we synergise optical and thermal imaging data to improve modelled transpiration estimates during water and/or nutrient stress (where leaf N is reduced). By utilising hyperspectral data and partial least squares regression analysis of six plant traits and fluxes in wheat (Triticum aestivum), we develop a new spectral vegetation index; the Combined Nitrogen and Drought Index (CNDI), which can be used to detect both water stress and/or nitrogen deficiency. Upon full stomatal closure during drought, CNDI shows a strong relationship with leaf water content (r2 = 0.70), with confounding changes in leaf biochemistry. By incorporating CNDI transformed with a sigmoid function into thermal-based transpiration modelling, we have increased the accuracy of modelling water fluxes during abiotic stress. These findings demonstrate the potential of using combined optical and thermal remote sensing-based modelling approaches to dynamically model water fluxes to improve both agricultural water usage and yields.

20.
Ann Surg ; 2024 Mar 04.
Article in English | MEDLINE | ID: mdl-38451826

ABSTRACT

OBJECTIVE: To assess impact of participation in a positive psychology coaching program on trainee burnout and well-being. BACKGROUND: Coaching using principles of positive psychology can improve well-being and reduce physician burnout. We hypothesized that participation in a coaching program would improve pediatric surgery trainee well-being. METHODS: With IRB approval, a coaching program was implemented during the COVID-19 pandemic (9/2020-7/2021) in the American Pediatric Surgical Association. Volunteer pediatric surgery trainees (n=43) were randomized to receive either one-on-one quarterly virtual coaching (n=22) from a pediatric surgeon trained in coaching skills or wellness reading materials (n=21). Participants completed pre- and post-study surveys containing validated measures including PERMA (positive emotion, engagement, relationships, meaning, accomplishment), professional fulfillment, burnout, self-valuation, gratitude, coping skills, and workplace experiences. Results were analyzed using Wilcoxon rank sum test, Kruskal-Wallis test, or chi-square test. RESULTS: Forty trainees (93%) completed both the baseline and year-end surveys and were included in the analysis. Twenty-five (64%) were female, mean age 35.7 (SD 2.3), 65% first-year fellows. Coached trainees showed an improved change in PERMA (P=0.034), burnout (P=0.024), and gratitude (P=0.03) scores from pre- to post-coaching compared to non-coached trainees. Coping skills also improved. More coaching sessions was associated with higher self-valuation scores (P=0.042), and more opportunities to reflect was associated with improved burnout and self-valuation. CONCLUSIONS: Despite the stress and challenges of medicine during COVID-19, a virtual positive psychology coaching program provided benefit in well-being and burnout to pediatric surgery trainees. Coaching should be integrated into existing wellness programs to support acquisition of coping skills that help trainees cope with the stressors they will face during their careers.

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