Relationship between youth cardiometabolic health and physical activity in medical records.

BACKGROUND: Thers is limited research examining modifiable cardiometabolic risk factors with a single-item health behavior question obtained during a clinic visit. Such information could support clinicians in identifying patients at risk for adverse cardiometabolic health. We investigated if children meeting physical activity or screen time recommendations, collected during clinic visits, have better cardiometabolic health than children not meeting recommendations. We hypothesized that children meeting either recommendation would have fewer cardiometabolic risk factors. METHODS AND FINDINGS: This cross-sectional study used data from electronic medical records (EMRs) between January 1, 2013 through December 30, 2017 from children (2-18 years) with a well child visits and data for ≥1 cardiometabolic risk factor (i.e., systolic and diastolic blood pressure, glycated hemoglobin, alanine transaminase, high-density and low-density lipoprotein, total cholesterol, and/or triglycerides). Physical activity and screen time were patient/caregiver-reported. Analyses included EMRs from 63,676 well child visits by 30,698 unique patients (49.3% female; 41.7% Black, 31.5% Hispanic). Models that included data from all visits indicated children meeting physical activity recommendations had reduced risk for abnormal blood pressure (odds ratio [OR] = 0.91, 95%CI 0.86, 0.97; p = 0.002), glycated hemoglobin (OR = 0.83, 95%CI 0.75, 0.91; p = 0.00006), alanine transaminase (OR = 0.85, 95%CI 0.79, 0.92; p = 0.00001), high-density lipoprotein (OR = 0.88, 95%CI 0.82, 0.95; p = 0.0009), and triglyceride values (OR = 0.89, 95%CI 0.83, 0.96; p = 0.002). Meeting screen time recommendations was not associated with abnormal cardiometabolic risk factors. CONCLUSION: Collecting information on reported adherence to meeting physical activity recommendations can provide clinicians with additional information to identify patients with a higher risk of adverse cardiometabolic health.

Establishing Shock Index, Pediatric Age-Adjusted (SIPA) Cut Points in Trauma Patients Under 1 Year of Age.

PURPOSE: Shock Index (SI) is used to predict injury severity and adverse outcomes in trauma patients, but age-adjusted shock index (SIPA) has superior performance in pediatric patients over the age of 1 year. SIPA scores under the age of 1 have not been well studied. This project aimed to establish and evaluate SIPA cut point data points for patients under 1 year of age. METHODS: Using age-based vital signs, we developed cut point values for patients under 1 year old using our institutional trauma data. All trauma patients under the age of 12 months were included, and clinical outcomes were recorded. SIPA cut points were defined using age specific vital sign limits (SIPA-VS) and tested against optimal cut points defined by ROC analysis (SIPA-ROC) and a cut point of 1.2 (SIPA-Nordin), which is used for patients ages 1-4 years. Student's t-test, chi-square tests, ANOVA, and test characteristics were used to analyze groups. RESULTS: A total of 609 pediatric trauma patients under the age of 12 months were identified from 2018 to 2022. SIPA scores were calculated for 483 patients. There were 406 patients with blunt trauma and 17 with penetrating. SIPA-Nordin was elevated in 81.6% (n = 397) of patients, compared to SIPA-VS 21% (n = 101) and SIPA-ROC 31% (n = 150). In comparison to SIPA-Nordin, both SIPA-VS and SIPA-ROC score exhibited superior specificity and negative predictive values (NPV) for multiple outcomes. Elevated SIPA-ROC scores had statistically significant associations with ICU admission, mechanical ventilation, severe anemia, transfusion during hospital admission, and in-hospital mortality. CONCLUSION: SIPA is a useful tool in identifying patients at risk for several complications of severe traumatic injury. SIPA cut points had high NPV and specificity for many outcomes. This study proposes cut point values that may aid in clinical decision-making for trauma patients under 1 year of age.Level of Evidence: Level IV Retrospective Review.

Polysomnographic findings in children with 22q deletion & duplication syndrome: relationship to genetic diagnosis, parent-reported symptoms, and calcium levels.

PURPOSE: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. In the current study, we assessed the relationship between parent-reported symptoms of obstructive sleep apnea (OSA) and polysomnographic (PSG) results in patients with 22q11.2DS. Additionally, we explored the relationships between genetic diagnosis, serum calcium and ferritin levels, and PSG results. METHODS: Retrospective chart review was completed for patients enrolled in our 22q Center's registry from 2015-2021. Data extracted included: patient characteristics, parent-reported sleep symptoms from the Childhood Sleep Habits Questionnaire (CSHQ), serum calcium and ferritin levels, and results from formal PSG. RESULTS: Overall, n = 89 encounters (60 unique patients) with PSG data demonstrated that there were no differences in OSA between those with deletion vs duplication, but PLMD was more common in those with deletion (35% vs 7%, p = 0.032). In a subset of n = 24 encounters with PSG and survey data in proximity, there were no significant associations between the CSHQ sleep-disordered breathing subscale and OSA presence or severity (p = 0.842). Likewise, we found no significant associations between the individual symptoms of OSA and PSG results (all p > 0.5). In those patients with available calcium (n = 44) and ferritin (n = 17) levels, we found a significant negative correlation between serum calcium and PLMS (r = -0.446, p = 0.002), but not ferritin (r = -0.067, p = 0.797) levels. CONCLUSIONS: Parent-reported symptoms do not predict the presence or severity of OSA in children with 22q11.2DS. There was a negative correlation between serum calcium, but not ferritin, and PLMS on PSG.

The impact of early tracheostomy on neurodevelopmental outcomes of infants with severe bronchopulmonary dysplasia exposed to postnatal corticosteroids.

OBJECTIVE: To compare the cognitive, language and motor scores of infants with severe BPD exposed to postnatal corticosteroids (PCS) and had early (ET), late (LT) or no tracheostomy (NT). METHODS: Retrospective study was designed to compare the developmental outcomes of 71 infants born between 2010 and 2017 with severe BPD exposed to PCS and had ET (≤122 days), LT (>122 days), or NT. RESULTS: Cognitive scores were lower in LT versus NT and ET (p = 0.050); motor scores were worse in LT versus NT and ET (p = 0.004). Dexamethasone use was higher in LT versus NT and ET (p = 0.040). Adjusted for PCS, odds for major cognitive impairment were 90% less in ET versus LT. Trend for improved language and motor outcomes was seen in ET versus LT. CONCLUSION: Infants with severe BPD exposed to PCS and had ET had significantly better cognitive, and trend toward improved language and motor outcomes.

Association Between Remote Monitoring and Interstage Morbidity and Death in Patients With Single-Ventricle Heart Disease Across Socioeconomic Groups.

BACKGROUND: Despite improvements in survival over time, the mortality rate for infants with single-ventricle heart disease remains high. Infants of low socioeconomic status (SES) are particularly vulnerable. We sought to determine whether use of a novel remote monitoring program, the Cardiac High Acuity Monitoring Program, mitigates differences in outcomes by SES. METHODS AND RESULTS: Within the Cardiac High Acuity Monitoring Program, we identified 610 infants across 11 centers from 2014 to 2021. All enrolled families had access to a mobile application allowing for near-instantaneous transfer of patient information to the care team. Patients were divided into SES tertiles on the basis of 6 variables relating to SES. Hierarchical logistic regression, adjusted for potential confounding characteristics, was used to determine the association between SES and death or transplant listing during the interstage period. Of 610 infants, 39 (6.4%) died or were listed for transplant. In unadjusted analysis, the rate of reaching the primary outcome between SES tertiles was similar (P=0.24). Even after multivariable adjustment, the odds of death or transplant listing were no different for those in the middle (odds ratio, 1.7 [95% CI, 0.73-3.94) or highest (odds ratio, 0.997 [95% CI, 0.30, 3.36]) SES tertile compared with patients in the lowest (overall P value 0.4). CONCLUSIONS: In a large multicenter cohort of infants with single-ventricle heart disease enrolled in a digital remote monitoring program during the interstage period, we found no difference in outcomes based on SES. Our study suggests that this novel technology could help mitigate differences in outcomes for this fragile population of patients.

Retrospective cohort comparison between fluoroscopic and radiograph-only exams for evaluation of gastrostomy and gastrojejunostomy tubes.

BACKGROUND: Gastrostomy (G) tube or gastrojejunostomy (GJ) tube checks are radiographic procedures that are frequently ordered to confirm tube positioning. OBJECTIVE: To characterize the sensitivity and specificity of radiograph-only examinations and traditional radiologist-performed fluoroscopy exams for G-tube or GJ-tube malposition and other adverse events detectable by imaging. MATERIALS AND METHODS: We performed a retrospective cohort study at a single tertiary pediatric center that included all subjects who underwent G-tube or GJ-tube checks using fluoroscopy or radiograph-only exams between January 1, 2008, and January 1, 2019. Radiograph-only examinations were defined as checks that consist of frontal and lateral abdominal radiographs after injection of contrast through the G-tube or GJ-tube. Fluoroscopy exams were defined as exams performed by a radiologist in the fluoroscopy suite. Radiology reports were evaluated for reported tube malposition and for other adverse events that are detectable by imaging. Clinical notes from the day of the procedure and longer-term clinical follow-up notes were used as a reference standard for adverse events. The sensitivity and specificity of the two procedures were calculated. RESULTS: A total of 212 exams, including 86 (41%) fluoroscopy exams and 126 (59%) radiograph-only exams, were evaluated. The most common correctly identified adverse event was tube malposition (9 true positives). The most commonly missed adverse event was leakage around the tube (8 false negatives). Fluoroscopy exams had a sensitivity of 100% (6/6; 95% CI: 100%, 100%) and a specificity of 100% (80/80; 95% CI: 100%, 100%) for tube malposition, while radiograph-only exams had 75% sensitivity (3/4; 95% CI: 33%,100%) and 100% specificity (112/112; 95% CI: 100%, 100%). CONCLUSIONS: Fluoroscopy and radiograph-only exams have similar sensitivity and specificity for detecting G-tube or GJ-tube malposition.

Transcriptome analysis reveals differences in cell cycle, growth and migration related genes that distinguish fibroblasts derived from pre-invasive and invasive breast cancer.

Background/Introduction: As the most common form of pre-invasive breast cancer, ductal carcinoma in situ (DCIS) affects over 50,000 women in the US annually. Despite standardized treatment involving lumpectomy and radiation therapy, up to 25% of patients with DCIS experience disease recurrence often with invasive ductal carcinoma (IDC), indicating that a subset of patients may be under-treated. As most DCIS cases will not progress to invasion, many patients may experience over-treatment. By understanding the underlying processes associated with DCIS to IDC progression, we can identify new biomarkers to determine which DCIS cases may become invasive and improve treatment for patients. Accumulation of fibroblasts in IDC is associated with disease progression and reduced survival. While fibroblasts have been detected in DCIS, little is understood about their role in DCIS progression. Goals: We sought to determine 1) whether DCIS fibroblasts were similar or distinct from normal and IDC fibroblasts at the transcriptome level, and 2) the contributions of DCIS fibroblasts to breast cancer progression. Methods: Fibroblasts underwent transcriptome profiling and pathway analysis. Significant DCIS fibroblast-associated genes were further analyzed in existing breast cancer mRNA databases and through tissue array immunostaining. Using the sub-renal capsule graft model, fibroblasts from normal breast, DCIS and IDC tissues were co-transplanted with DCIS.com breast cancer cells. Results: Through transcriptome profiling, we found that DCIS fibroblasts were characterized by unique alterations in cell cycle and motility related genes such as PKMYT1, TGF-α, SFRP1 and SFRP2, which predicted increased cell growth and invasion by Ingenuity Pathway Analysis. Immunostaining analysis revealed corresponding increases in expression of stromal derived PKMYT1, TGF-α and corresponding decreases in expression of SFRP1 and SFRP2 in DCIS and IDC tissues. Grafting studies in mice revealed that DCIS fibroblasts enhanced breast cancer growth and invasion associated with arginase-1+ cell recruitment. Conclusion: DCIS fibroblasts are phenotypically distinct from normal breast and IDC fibroblasts, and play an important role in breast cancer growth, invasion, and recruitment of myeloid cells. These studies provide novel insight into the role of DCIS fibroblasts in breast cancer progression and identify some key biomarkers associated with DCIS progression to IDC, with important clinical implications.

Contraception use among individuals with substance use disorder increases tenfold with patient-centered, mobile services: a quasi-experimental study.

BACKGROUND: Individuals with substance use disorders (SUD) have disproportionately high rates of unintended pregnancy. Reducing harm associated with this risk and its biopsychosocial consequences requires evidence-based, non-coercive interventions that ensure access to contraception for individuals who choose to prevent pregnancy. We examined feasibility and impact of SexHealth Mobile, a mobile unit-based intervention that aimed to increase access to patient-centered contraceptive care for individuals in SUD recovery programs. METHODS: We conducted a quasi-experimental study (enhanced usual care [EUC] followed by intervention) at three recovery centers with participants (n = 98) at risk for unintended pregnancy. EUC participants were offered printed information on community locations where they could access contraception care. SexHealth Mobile participants were offered same-day, onsite clinical consultation on a medical mobile unit and contraception if desired. The primary outcome was use of contraception (hormonal or intrauterine device) at one-month post-enrollment. Secondary outcomes were at two-weeks and three-months. Confidence in preventing unintended pregnancy, reasons for non-use of contraception at follow-up, and intervention feasibility were also assessed. RESULTS: Participants (median age = 31, range 19-40) enrolled in the intervention period were almost 10 times more likely to be using contraception at one-month (51.5%) versus the those enrolled in the EUC period (5.4%) (unadjusted relative risk [URR] = 9.3 [95%CI: 2.3-37.1]; adjusted relative risk [ARR] = 9.8 [95%CI: 2.4-39.2]). Intervention participants were also more likely to be using contraception at 2-weeks (38.7% vs. 2.6%; URR = 14.3 [95%CI: 2.0-104.1]) and three-months (40.9% vs. 13.9%; URR = 2.9 [95% CI: 1.1-7.4]). EUC participants reported more barriers (cost, time) and less confidence in preventing unintended pregnancies. Mixed-methods feasibility data indicated high acceptability and feasible integration into recovery settings. CONCLUSIONS: Mobile contraceptive care based on principles of reproductive justice and harm reduction reduces access barriers, is feasible to implement in SUD recovery settings, and increases contraception use. Expanding interventions like SexHealth Mobile may help reduce harm from unintended pregnancies among individuals in SUD recovery. Trial Registration NCT04227145.

Feasibility of a Contraception Intervention for Hospitalized Adolescents and Young Adults.

OBJECTIVES: Unintended pregnancy in adolescents and young adults (AYAs) is linked with negative outcomes. We sought to evaluate the feasibility, acceptability, and preliminary efficacy of a contraception intervention in the pediatric hospital. METHODS: We conducted a pilot study of hospitalized AYA females aged 14 to 21 years who reported past or anticipated sexual activity. A health educator offered a tablet-based intervention to provide contraception education and medications, if desired. We assessed feasibility (ie, intervention completion, duration, disruption to care), acceptability (ie, proportion rating as acceptable or satisfactory) among AYAs, parents or guardians, and healthcare providers, as well as preliminary efficacy (eg, contraception uptake) at enrollment and 3-month follow up. RESULTS: We enrolled 25 AYA participants; mean age was 16.4 ± 1.5 years. The intervention demonstrated high feasibility as all enrolled participants (n = 25, 100%) completed the intervention and median intervention duration was 32 (interquartile range 25-45) minutes. Among 11 nurses, 82% (n = 9) reported the intervention was not at all or minimally disruptive to their workflow. All AYAs were very or somewhat satisfied with the intervention and 88% (n = 7) of 8 parents and guardians surveyed felt it was acceptable for the educator to meet privately with their child. Eleven participants (44%) started hormonal contraception, most commonly the subdermal implant (n = 7, 64%), and 23 (92%) received condoms. CONCLUSIONS: Our findings support the feasibility and acceptability of our contraception intervention in the pediatric hospital resulting in contraception uptake among AYAs. Efforts to expand access to contraception are important to reduce unintended pregnancy, especially as restrictions to abortion are increasing in some states.

Outcomes of infants with severe bronchopulmonary dysplasia who received tracheostomy and home ventilation.

OBJECTIVE: To describe the survival rate, timing of liberation from the ventilator, and factors favorable for decannulation among infants with severe bronchopulmonary dysplasia (sBPD) who received tracheostomy. METHODS: Demographics and clinical outcomes were obtained through retrospective chart review of 98 infants with sBPD who were born between 2004 and 2017, received tracheostomy at <1 year of age, and were followed in the Infant Tracheostomy and Home Ventilator clinic up to 4 years of age. RESULTS: The number of infants with sBPD who received tracheostomy increased significantly over the study period. The median age at tracheostomy was 4 months (IQR 3, 5) or 43 weeks corrected gestational age; the median age at NICU discharge was 7 months (IQR 6, 9). At 48 months of age, all subjects had been liberated from the ventilator, at a median age of 24 months (IQR 18, 29); 52% had been decannulated with a median age at decannulation of 32 months (IQR 26, 39). Only 1 (1%) infant died. Multivariate logistic regression showed infants who were White, liberated from the ventilator by 24 months of age and have public insurance had significantly greater odds of being decannulated by 48 months of age. Tracheobronchomalacia was associated with decreased odds of decannulation. CONCLUSION: Infants with sBPD who received tracheostomy had an excellent survival rate. Liberation from home ventilation and decannulation are likely to occur by 4 years of age.

Determinants of Length of Stay after Neonatal Cardiac Surgery Using Path Analysis.

After neonatal cardiac surgery, families, and the health care team strive for exclusive oral feedings before hospital discharge. With the hypothesis that exclusive oral feedings would reduce the length of stay (LOS), a multidimensional path analysis was used to examine a cross-section of 280 neonates from 2009 to 2013. Buttigieg, Abela, and Pace's theoretical framework of structural and process-related determinants of LOS was modeled with hypothesis-driven correlation and directionality. The recursive path model had a good global and local fit with outcome variances of 26% for exclusive oral feeding and LOS. In the full cohort and model groups (single and biventricular), when controlling for covariances: sepsis, birth distance, necrotizing enterocolitis, genetic differences, specialty consults, the age at which neonatal cardiac surgery occurred (ß = .23, p ≤ .001) and the duration of postoperative intubation (ß = .47, p ≤ .001) more significantly influenced the LOS than intermediate mediation of exclusive oral feedings at discharge.

Tonsillectomy in Children with 22q11.2 Deletion Syndrome.

Tonsillectomy is one of the most common procedures performed in children, however there are currently no published studies evaluating tonsillectomy in children with 22q11.2 deletion syndrome (22q11DS). With this study, our goal was to investigate the indications, efficacy, and complications of tonsillectomy in a pediatric cohort of patients with 22q11DS. This is a retrospective chart review of patients in our 22q Center's repository. Inclusion criteria were a diagnosis of 22q11DS and a history of tonsillectomy or adenotonsillectomy. Data collected included: indications for tonsillectomy, preoperative and postoperative polysomnography (PSG) results, and surgical complications. In total, 33 patients were included. Most common indications for tonsillectomy were facilitation with speech surgery (n = 21) and sleep-disordered breathing (SDB)/obstructive sleep apnea (OSA) (n = 16). Average length of stay was 1.15 days. Most patients (69%) had some degree of persistent OSA on postoperative PSG. Complications occurred in 18% of patients and included respiratory distress, hemorrhage, and hypocalcemia. This study demonstrates tonsillectomy was a commonly performed procedure in this cohort of patients with 22q11DS. These data highlight the potential need for close postoperative calcium and respiratory monitoring. The data were limited with respect to PSG outcomes, and future studies are needed to better characterize OSA outcomes and complications in this patient population.

Postoperative Hypocalcemia following Non-Cardiac Surgical Procedures in Children with 22q11.2 Deletion Syndrome.

The guidelines for management of children with 22q11.2 deletion syndrome (22q11DS) highlight the risk for developing hypocalcemia after surgery and recommend monitoring calcium perioperatively. Despite this guidance, little has been published on postoperative hypocalcemia and 22q11DS. Our goals were to evaluate the frequency of perioperative calcium monitoring and examine how often postoperative hypocalcemia was identified. This is a retrospective chart review of patients in our 22q Center's repository. Inclusion criteria were a diagnosis of 22q11DS and a history of a non-cardiac surgical procedure. Data collected included all non-cardiac surgeries and perioperative calcium labs. In total, 68 patients were included and underwent 305 on-cardiac surgeries. Patients in only 17% of these surgeries had postoperative calcium testing, but of those tested, 58% showed hypocalcemia. Patients with history of hypocalcemia at the time of chart review undergoing non-cardiac surgeries were tested postoperatively 40% of the time; however, 67% of these had hypocalcemia. Similarly, for patients without history of hypocalcemia, postoperative testing occurred 60% of the time, with 52% of these having hypocalcemia. This study demonstrates that postoperative hypocalcemia in children with 22q11DS following non-cardiac surgeries is common and affects patients both with and without prior history of hypocalcemia. These data support establishing a protocol for perioperative testing/management of hypocalcemia for patients with 22q11DS.

T Cell Transcriptome in Chromosome 22q11.2 Deletion Syndrome.

Phenotypic variations of chromosome 22q11.2 deletion syndrome (22qDS) have unclear explanations. T cell lymphopenia in 22qDS related to varying degrees of thymic hypoplasia contributes to the phenotypic heterogeneity. No phenotype correlation with genotype or deletion size is known for lymphopenia. We investigated gene expression in human T cells of participants with and without 22qDS and T cells of participants with 22qDS with low or normal T cells. Peripheral blood was collected from participants aged 5-8 y. Immune function was checked. RNA sequencing was completed on isolated T cells, and differential gene expression profiles of T cells between 22qDS and healthy control subjects were established. A total of 360 genes were differentially expressed (q < 0.05) between T cells of patients with 22qDS (n = 13) and healthy control subjects (n = 6) (log2 fold change range, -2.0747, 15.6724). We compared gene expression between participants with 22qDS with low (n = 7) and normal T cell counts (n = 6), finding 94 genes that were differentially expressed (q < 0.05) (log2 fold change range, -4.5445, 5.1297). Twenty-nine genes correlated with T cell counts and markers CD3, CD4, CD8, and CD45RA+CD4 (R ≥ 0.8). We found significantly differentially expressed genes in participants with 22qDS compared with healthy control subjects and in participants with 22qDS with low T cell counts compared with those with normal T cell counts. Several enriched pathways suggest a role of T cells in defective communication between T cells and the innate immune system in 22qDS. Among these, the liver X receptor/retinoid X receptor pathway was noted to show several differentially expressed genes affecting participants with 22qDS compared with healthy control subjects and more so those with low T cell counts than in those with normal T cell counts.

Characterization of the Mucosally-Adherent Duodenal Microbiome in Children with and without Crohn's Disease.

Manipulation of the microbiome is a rational treatment strategy for inflammatory bowel disease (IBD). Compared to the colon and terminal ileum (TI), understanding of the microbial composition in the duodenum is sparse. This gap in knowledge is especially significant for children with Crohn's disease (CD) because the prevalence of duodenal CD is higher in children than in adults. Our aim was to characterize the bacterial composition of the mucosally-adherent duodenal microbiome in children with and without CD as a first step toward development of targeted IBD treatment strategies at this disease location. Fresh-frozen mucosal biopsies were obtained from the duodenum and TI of children with treatment-naïve CD and age- and sex-matched controls. Extracted DNA was analyzed for sequence variation in the 16S ribosomal RNA bacterial gene region V4 (Novogene; Beijing, China). Bacterial relative abundance, alpha and beta composition, and diversity, were compared across duodenal and TI samples from the controls and CD groups with and without chronic active inflammation (118 samples from 73 children total; approx. 50% CD), using UniFrac dissimilarity coefficients (α < 0.05), Linear Discriminant Analysis Effect Size (LEfSe) analysis (LDA score ≥ 2), and Unweighted Pair Group Method with Arithmetic Mean (UPGMA) analysis. The relationships between bacterial abundance, sex, age, concomitant medication use, and villous length were assessed. The microbial composition in the duodenum was significantly different from the TI in the control population(R-value = 0.558, p = 0.001) and in children with active CD (R-value = 0.301, p = 0.001). Significant differences in bacterial abundance were noted between the control and CD duodena (LDA > 4). The duodenum of children without CD was characterized by increased abundance in Pseudomonodales, whereas the actively inflamed duodenum in CD was characterized by increased abundance of Bacteroidales, specifically the family Prevotellaceae. This trend is opposite of previously published observations of microbial composition in the TI, where active inflammation was associated with a relative decrease in the abundance of Bacteroidetes and an increase in Proteobacteria, including Pseudomonadales. No statistically significant correlations were noted between abundance and age, sex, concomitant medication use or villous length, except for Bacteroidetes, which significantly decreased in abundance in the TI with age (p = 0.048). The pediatric duodenal microbiome is distinct from the TI and characterized by an increased abundance of Pseudomonodales and Spirochetes in healthy children, and an increased abundance of Bacteroidales in active CD patients.

Cost-Effectiveness Analysis: Personal Systems Approach in Improving Medication Adherence in Adult Kidney Transplant Patients.

ABSTRACT: Interventions to improve medication nonadherence in transplantation have recently moved from a focus on motivation and intention, to a focus on person-level quality improvement strategies. These strategies link adherence to established daily routines, environmental cues, and supportive people. The objective of this evaluation was to estimate the cost of implementation and the cost-effectiveness of a person-level intervention shown to increase medication adherence. To estimate the intervention costs, a direct measure microcosting approach was used after key informant interviews with project champions and a review of implementation expenditures. Cost-effectiveness was calculated by comparing the incremental implementation costs and healthcare costs associated with nonadherence to the incremental percent adherent, defined as the percent of patients who took greater or equal to 85% of their medication doses, for each pairwise comparison. The intervention was low-resource to implement, costing approximately $520 to implement per patient, and was associated with significant improvements in medication adherence. These implementation costs were more than outweighed by the expected healthcare savings associated with improvements in adherence. This person-level intervention is a low-cost, efficacious intervention associated with significant statistical and clinical improvements in medication adherence in adult kidney transplant recipients.

Conversion Furlow Palatoplasty and the Use of Preoperative Video Nasendoscopy.

OBJECTIVE: To assess outcomes after conversion Furlow palatoplasty with and without routine preoperative flexible fiberoptic video nasendoscopy (FFVN). DESIGN: Retrospective cohort study. SETTING: Tertiary Children's Hospital. PATIENTS: Greater than 3 years of age with cleft palate and velopharyngeal insufficiency (VPI) after straight-line palatoplasty requiring secondary surgery performed with a Furlow palatoplasty. MAIN OUTCOME MEASURES: The number of children with and without routine FFVN prior to conversion Furlow palatoplasty for VPI after initial straight-line palatoplasty. Groups were compared for surgical timing, speech outcomes, and need for additional surgery after conversion Furlow palatoplasty. RESULTS: Fifty-eight patients underwent preoperative FFVN versus 29 without. Mean age at FFVN was 73.8 (SD 34) months. Mean age for secondary palatal surgery by conversion Furlow palatoplasty was 81.5 (SD 34.8) months with FFVN versus 73.4 (SD 34.0) months without FFVN. There was a significant difference (P < .001) for VPI diagnosis and time to surgery between the groups. Preoperative hypernasality ratings were similar between groups. Postoperatively 65.5% of FFVN and non-FFVN patients corrected to normal resonance. Only 6.9% of all patients rated moderate-severe hypernasality after surgery compared to 42.5% preoperatively. Of total, 5.7% of patients had unchanged hypernasality and only 1 patient rated worse. Seven patients ultimately required additional surgery in attempt to normalize their resonance. CONCLUSIONS: Routine preoperative FFVN does not offer any advantage for improved outcomes in children undergoing conversion Furlow palatoplasty after straight-line repair. Routine preoperative FFVN was associated with increased time to surgery after diagnosis of VPI compared to those without FFVN.

Risk factors for anesthetic-related complications in pediatric patients with a newly diagnosed mediastinal mass.

BACKGROUND: Pediatric patients with a mediastinal mass can experience severe complications while undergoing anesthesia. Nearly, all published reviews involve either patients with an anterior mediastinal mass or patients with an oncologic disease. AIM: The identification of risk factors for anesthetic-related complications in pediatric patients with any type of mediastinal mass. METHODS: From January 1, 2008 to December 31, 2019, patients with a newly diagnosed mediastinal mass that underwent anesthesia were retrospectively identified. Each patient's medical record was reviewed for presenting symptoms, preprocedure imaging results, the type of anesthetic delivered, and the occurrence of any anesthetic-related complications. A complication was defined as severe hypoxia, severe hypotension, or loss of endtidal carbon dioxide. RESULTS: Eighty-six patients presented with a new mediastinal mass. Six of these patients (7%) had a complication. Complications were no more likely in patients with orthopnea than in patients without orthopnea (P = 1.00; relative risk (RR) = 0.95; 95% CI (0.1, 7.5). Complication rates in patients with anterior, middle, and posterior mediastinal masses were similar, as were complication rates in patients with large, medium, and small masses. Six of the 41 patients (15%) who had tracheal compression had a complication, while none of the 45 patients (0%) who did not have tracheal compression had a complication (p = .0096). Six of the 48 patients (13%) that were intubated had a complication, while none of the 38 patients (0%) who were not intubated had a complication (p = .032). Five of 36 patients (14%) who had mainstem bronchus compression had a complication, while one of 50 patients (2%) who did not have mainstem bronchus compression had a complication (p = .078; RR = 6.9l; 95% CI (0.8, 56.9)). CONCLUSIONS: Anesthetic-related complications were associated with airway compression and endotracheal intubation. The absence of preprocedure orthopnea did not ensure that the anesthetic would be uncomplicated. Complications occurred in similar frequencies in patients with a mediastinal mass of any location or size.

Diagnostic yield of genetic testing in 324 infants with hypotonia.

This retrospective cohort study was designed to determine the yield of genetic tests in hypotonic infants and develop a diagnostic algorithm. Out of 496 patients identified by International Classification of Diseases (ICD) 9/10 coding, 324 patients met the inclusion criteria. Diagnostic yields were 32% for karyotype, 19% for microarray, 30% for targeted genetic tests, 38% for gene panels, and 31% for exome sequencing. In addition, we considered the diagnostic contribution of ancillary tests, including neuroimaging, metabolic tests, and so forth. The combination of microarray and exome sequencing gave the highest diagnostic yield. None of the other tests added significant value in arriving at a diagnosis. Based on these results we propose that the vast majority of infants with congenital hypotonia should start with a microarray and proceed with exome sequencing, with the notable exception of infants with clearly syndromic features in whom karyotyping or targeted testing may be more appropriate.

microRNAs and Gene-Environment Interactions in Autism: Effects of Prenatal Maternal Stress and the SERT Gene on Maternal microRNA Expression.

Background: Genetics and environment both are critical in autism spectrum disorder (ASD), but their interaction (G × E) is less understood. Numerous studies have shown higher incidence of stress exposures during pregnancies with children later diagnosed with ASD. However, many stress-exposed mothers have unaffected children. The serotonin transporter (SERT) gene affects stress reactivity. Two independent samples have shown that the association between maternal stress exposure and ASD is greatest with maternal presence of the SERT short (S)-allele (deletion in the promoter region). MicroRNAs play a regulatory role in the serotonergic pathway and in prenatal stress and are therefore potential mechanistic targets in this setting. Design/methods: We profiled microRNA expression in blood from mothers of children with ASD, with known stress exposure during pregnancy. Samples were divided into groups based on SERT genotypes (LL/LS/SS) and prenatal stress level (high/low). Results: Two thousand five hundred mature microRNAs were examined. The ANOVA analysis showed differential expression (DE) of 119 microRNAs; 90 were DE in high- vs. low-stress groups (stress-dependent). Two (miR-1224-5p, miR-331-3p) were recently reported by our group to exhibit stress-dependent expression in rodent brain samples from embryos exposed to prenatal stress. Another, miR-145-5p, is associated with maternal stress. Across SERT genotypes, with high stress exposure, 20 significantly DE microRNAs were detected, five were stress-dependent. These microRNAs may be candidates for stress × SERT genotype interactions. This is remarkable as these changes were from mothers several years after stress-exposed pregnancies. Conclusions: Our study provides evidence for epigenetic alterations in relation to a G × E model (prenatal maternal stress × SERT gene) in ASD.