Scholarly Activity

PURPOSE: Motivational interviewing (MI) techniques are used by health care teams to engage adolescents and young adults (AYAs) in health care self-management and pediatric to adult health care transition (HCT) planning efforts. The aim of this study was to assess the initial level of motivation of AYAs prior to receipt of HCT anticipatory guidance and to determine associations with demographic and health coverage factors.

METHODS: This retrospective study included 5112 AYAs, aged 12-26 years, from four health systems. All AYAs completed the Got Transition readiness assessment that includes MI questions on importance and confidence related to the move to an adult provider. Independent variables included demographic and health coverage factors: age, sex, race, ethnicity, language, and insurance type. The statistical approach included summary statistics, chi-square tests of independence and log-likelihood ratio tests, and generalized linear models and contrasts.

RESULTS: The study results demonstrate initial trends in importance and confidence scores for AYAs before they became part of a HCT planning process. Importance scores increased from 12-14 through 18-20 years of age, then decreased in the 21-26-year group. Confidence scores increased from the 12-14 through the 21-26-year group. Confidence scores were generally higher than importance scores and were accompanied by smaller standard deviations. Ethnicity and insurance type also demonstrated an association with MI scoring.

DISCUSSION: This study provides baseline scores on two key MI importance and confidence questions that can facilitate clinician understanding of AYA engagement in discussing the changes needed to move to adult care and guides the clinician to start earlier than just before transfer that often occurs around age 21.

PURPOSE: To review biotinidase gene (BTD) variants identified in a large, diverse, reproductive carrier screening (RCS) cohort and outline management of heterozygotes with pathogenic or likely pathogenic (P/LP) variants.

METHODS: This retrospective observational study included samples tested from January 2020 to September 2022 in a 274-gene panel. The study involved females aged 18 to 55 years. Screening was performed using next-generation sequencing covering exons and 10 base-pair flanking introns. The heterozygote frequency was calculated for P/LP variants for the entire population and individual racial/ethnic groups.

RESULTS: Of the 91,637 women tested, 5625 (6.1%) had a P/LP variant in BTD. NM_000060.4:c.1330G>C p.(Asp444His) (referred to as D444H or D424H) alone, or in combination with another variant, accounted for 5193 (92.3%) of the positive tests. P/LP heterozygote rates differed between racial and ethnic groups. We ascertained 7 novel P/LP variants not previously recorded in databases.

CONCLUSION: The BTD P/LP variants identified through RCS were substantially compatible with those found through positive newborn screening. Therefore, RCS provides a potential for earlier diagnosis. We observed significant differences in P/LP heterozygote rates for biotinidase deficiency among different racial and ethnic groups. Most reported variants can be interpreted without requiring determination of serum biotinidase activity.

Objective: Intersectional oppression exposes transgender women of color to gender-based violence and contributes to inequities across the human immunodeficiency virus (HIV) prevention and care continua. This pilot study aimed to adapt and examine the feasibility and acceptability of Kickin' it with the Gurlz, an HIV status-neutral multicomponent intervention designed to address violence, promote healing from trauma, and reduce barriers to engagement in HIV prevention and care.

Method: Intervention components included Violence and Gender Affirmation Screening, peer navigation sessions, and a rigorous adaptation of Seeking Safety peer-delivered group sessions. We conducted a one-arm pilot study in which participants completed pretest, immediate posttest, and 3-month follow-up surveys. A subset of participants completed qualitative exit interviews.

Results: Results indicated good feasibility with all participants completing the Violence and Gender Affirmation Screening, all completing at least one peer navigation session, 79% attending at least seven of eight group sessions across seven cohorts, and 89% completing at least one follow-up survey. Exit interviews and group session evaluations indicated high acceptability. As this pilot study was not powered nor intended to evaluate intervention efficacy, intent-to-treat analyses did not detect significant changes in most hypothesized mediators, mental health, substance use, and HIV outcomes; however, there were significant changes in intimate partner violence and medical and legal gender affirmation.

Conclusions: Kickin' it with the Gurlz demonstrated promise as a peer-delivered HIV status-neutral intervention designed to address violence, promote healing from trauma, and improve engagement in HIV prevention and care with transgender women of color.

IMPORTANCE: Increased secure firearm storage can reduce youth firearm injury and mortality, a leading cause of death for children and adolescents in the US. Despite the availability of evidence-based secure firearm storage programs and recommendations from the American Academy of Pediatrics, few pediatric clinicians report routinely implementing these programs.

OBJECTIVE: To compare the effectiveness of an electronic health record (EHR) documentation template (nudge) and the nudge plus facilitation (ie, clinic support to implement the program; nudge+) at promoting delivery of a brief evidence-based secure firearm storage program (SAFE Firearm) that includes counseling about secure firearm storage and free cable locks during all pediatric well visits.

DESIGN, SETTING, AND PARTICIPANTS: The Adolescent and Child Suicide Prevention in Routine Clinical Encounters (ASPIRE) unblinded parallel cluster randomized effectiveness-implementation trial was conducted from March 14, 2022, to March 20, 2023, to test the hypothesis that, relative to nudge, nudge+ would result in delivery of the firearm storage program to an additional 10% or more of the eligible population, and that this difference would be statistically significant. Thirty pediatric primary care clinics in 2 US health care systems (in Michigan and Colorado) were included, excluding clinics that were not the primary site for participating health care professionals and a subset selected at random due to resource limitations. All pediatric well visits at participating clinics for youth ages 5 to 17 years were analyzed.

INTERVENTIONS: Clinics were randomly assigned in a 1:1 ratio to receive either the nudge or nudge+.

MAIN OUTCOMES AND MEASURES: Patient-level outcomes were modeled to estimate the primary outcome, reach, which is a visit-level binary indicator of whether the parent received both components of the firearm storage program (counseling and lock), as documented by the clinician in the EHR. Secondary outcomes explored individual program component delivery.

RESULTS: A total of 47 307 well-child visits (median [IQR] age, 11.3 [8.1-14.4] years; 24 210 [51.2%] male and 23 091 [48.8%] female) among 46 597 children and 368 clinicians were eligible to receive the firearm storage program during the trial and were included in analyses. Using the intention-to-treat principle, a higher percentage of well-child visits received the firearm storage program in the nudge+ condition (49%; 95% CI, 37-61) compared to nudge (22%; 95% CI, 13-31).

CONCLUSIONS AND RELEVANCE: In this study, the EHR strategy combined with facilitation (nudge+) was more effective at increasing delivery of an evidence-based secure firearm storage program compared to nudge alone.

TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT04844021.

BACKGROUND: Data on oral vancomycin for primary sclerosing cholangitis (PSC)-associated inflammatory bowel disease (IBD) are limited.

AIMS: Using data from the Paediatric PSC Consortium, to examine the effect of vancomycin on IBD activity.

METHODS: In this retrospective multi-centre cohort study, we matched vancomycin-treated and untreated patients (1:3) based on IBD duration at the time of primary outcome assessment. The primary outcome was Physician Global Assessment (PGA) of IBD clinical activity after 1 year (±6 months) of vancomycin. We used generalised estimating equations (GEE) to examine the association between vancomycin and PGA remission, adjusting for IBD type, severity and medication exposures. Secondary outcomes included serum labs and endoscopic remission (global rating of no activity) among those with available data and also analysed with GEE.

RESULTS: 113 PSC-IBD patients received vancomycin (median age 12.7 years, 63% male). The matched cohort included 70 vancomycin-treated and 210 untreated patients. Vancomycin was associated with greater odds of IBD clinical remission (odds ratio [OR] 3.52, 95% CI 1.97-6.31; adjusted OR [aOR] 5.24, 95% CI 2.68-10.22). Benefit was maintained in sensitivity analyses restricted to non-transplanted patients and those with baseline moderate-severe PGA. Vancomycin was associated with increased odds of endoscopic remission (aOR 2.76, 95% CI 1.002-7.62; N = 101 with data), and with lower CRP (p = 0.03) and higher haemoglobin and albumin (both p < 0.01).

CONCLUSION: Vancomycin was associated with greater odds of IBD clinical and endoscopic remission. Additional, preferably randomised, controlled studies are needed to characterise efficacy using objective markers of mucosal inflammation, and to examine safety and define optimal dosing.

Internet-based parent training is a promising intervention approach for child disruptive behavior. However, engagement in these interventions is limited. The Parenting Young Children Check-up (PYCC) was designed to improve engagement in internet-based parent training programs via three components: 1) an initial check-up, 2) text messages, and 3) a website. This proof-of-concept trial used feedback from parents and pediatric clinic staff to evaluate feasibility as well as the extent to which the initial check-up was associated with behavioral intentions to use the PYCC website. Pediatric staff and parents rated the PYCC highly, and parents reported interest in using the PYCC website.

Objectives: Describe the details of the clinical presentation, diagnostic challenges, and management of a female neonate with neonatal severe hyperparathyroidism (NSHPT).

Methods: This case report was developed from a retrospective chart review. The female infant was born to consanguineous parents-first cousins, with multiple prenatal concerns, including gestational diabetes, intrauterine growth restriction, polyhydramnios, and suspicion of a hypoplastic left atrium on prenatal echocardiogram (ECHO). Following a planned C-section at 37 weeks gestation, the neonate exhibited moderate respiratory distress with subcostal retractions. On physical examination, craniotabes, a bell-shaped chest, and a continuous machinery-type murmur were noted.

Results: Evaluation at birth revealed a large Patent Ductus Arteriosus and significant demineralization of skeletal structures with atypical rib morphology. Lab work at 24 h of life (HOL) showed elevated serum calcium level (14.3 mg/dL), ionized calcium-iCal (2.32 mmol/L), and normal 25-OH Vitamin D (54.2 ng/mL). A comprehensive skeletal survey uncovered generalized osteopenia, metaphyseal lucencies, and evidence of healing fractures. Repeat lab work at 43 HOL, showed serum calcium of 18.0 mg/dL, iCal 2.67 mmol/L, and elevated parathyroid hormone (PTH) of 2116 pg/mL. Diagnosis of NSHPT was established based on laboratory findings. Molecular testing confirmed a homozygous variant (c.1744T >A; p.Cys582Ser) in the calcium-sensing receptor (CaSR) gene which confirmed the diagnosis of NSHPT. NSHPT, a rare genetic disorder associated with high mortality rates, is often caused by inactivating CaSR gene variants. The patient's family history revealed a strong correlation with familial hypocalciuric hypercalcemia (FHH), a benign condition associated with asymptomatic hypercalcemia, normal to minimally elevated parathyroid level, and hypocalciuria, it is caused by heterozygous inactivating mutations in the CaSR gene. Treatment of NSHPT typically involves total or subtotal parathyroidectomy; however, initial medical intervention is often necessary. In this case, the neonate underwent medical treatment with calcitonin, furosemide to help facilitate renal clearance of calcium, and intravenous fluids before a successful parathyroidectomy.

Conclusions: This case accentuates the importance of considering rare genetic disorders in neonates with complex clinical presentations and affirms the need for comprehensive counseling and education, particularly in consanguineous parents, to address familial implications and guide appropriate interventions.

PURPOSE: Intersectional stigma fuels inequities among transgender women of color, which have been exacerbated by coronavirus disease 2019 (COVID-19). This study evaluated a community-led emergency assistance program for transgender women of color.

METHODS: We conducted a pilot program evaluation (n=8).

RESULTS: Retention was 87.5% over the follow-up. Funds were primarily used for bills, food, and housing. Requesting and receiving funds was described as "somewhat to extremely easy." Participants identified the need for economic empowerment components in future programming, specifically gender affirmation, skill-building for education and employment, and entrepreneurial opportunities.

CONCLUSION: Findings highlight the need to invest in community-led strategies to address inequities experienced by transgender women of color.

PURPOSE: Intersectional stigma fuels inequities among transgender women of color, which have been exacerbated by coronavirus disease 2019 (COVID-19). This study evaluated a community-led emergency assistance program for transgender women of color.

METHODS: We conducted a pilot program evaluation (n=8).

RESULTS: Retention was 87.5% over the follow-up. Funds were primarily used for bills, food, and housing. Requesting and receiving funds was described as "somewhat to extremely easy." Participants identified the need for economic empowerment components in future programming, specifically gender affirmation, skill-building for education and employment, and entrepreneurial opportunities.

CONCLUSION: Findings highlight the need to invest in community-led strategies to address inequities experienced by transgender women of color.

INTRODUCTION: Prenatal and early-life dog exposure has been linked to reduced childhood allergy and asthma. A potential mechanism includes altered early immune development in response to changes in the gut microbiome among dog-exposed infants. We thus sought to determine whether infants born into homes with indoor dog(s) exhibit altered gut microbiome development.

METHODS: Pregnant women living in homes with dogs or in pet-free homes were recruited in southeast Michigan. Infant stool samples were collected at intervals between 1 week and 18 months after birth and microbiome was assessed using 16S ribosomal sequencing. Perinatal maternal vaginal/rectal swabs and stool samples were sequenced from a limited number of mothers. Mixed effect adjusted models were used to assess stool microbial community trajectories comparing infants from dog-keeping versus pet-free homes with adjustment for relevant covariates.

RESULTS: Infant gut microbial composition among vaginally born babies became less similar to the maternal vaginal/rectal microbiota and more similar to the maternal gut microbiota with age-related accumulation of bacterial species with advancing age. Stool samples from dog-exposed infants were microbially more diverse (p = .041) through age 18 months with enhanced diversity most apparent between 3 and 6 months of age. Statistically significant effects of dog exposure on β-diversity metrics were restricted to formula-fed children. Across the sample collection period, dog exposure was associated with Fusobacterium genera enrichment, as well as enrichment of Collinsella, Ruminococcus, Clostridaceae and Lachnospiraceae OTUs.

CONCLUSION: Prenatal/early-life dog exposure is associated with an altered gut microbiome during infancy and supports a potential mechanism explaining lessened atopy and asthma risk. Further research directly linking specific dog-attributable changes in the infant gut microbiome to the risk of allergic disorders is needed.