Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.

Myostatin is a myokine which acts upon skeletal muscle to inhibit growth and regeneration. Myostatin is endogenously antagonised by follistatin. This study assessed serum myostatin and follistatin concentrations as monitoring or prognostic biomarkers in dysferlinopathy, an autosomal recessively inherited muscular dystrophy.

Repurposing HDAC inhibitors to enhance ribonuclease 4 and 7 expression and reduce urinary tract infection.

With the emergence of antibiotic-resistant bacteria, innovative approaches are needed for the treatment of urinary tract infections. Boosting antimicrobial peptide expression may provide an alternative to antibiotics. Here, we developed reporter cell lines and performed a high-throughput screen of clinically used drugs to identify compounds that boost ribonuclease 4 and 7 expression (RNase 4 and 7), peptides that have antimicrobial activity against antibiotic-resistant uropathogens.

Invasive or More Direct Measurements Can Provide an Objective Early-Stopping Ceiling for Training Deep Neural Networks on Non-invasive or Less-Direct Biomedical Data.

Early stopping is an extremely common tool to minimize overfitting, which would otherwise be a cause of poor generalization of the model to novel data. However, early stopping is a heuristic that, while effective, primarily relies on ad hoc parameters and metrics. Optimizing when to stop remains a challenge.

Characteristics, treatment outcomes and direct costs of tooth avulsion in children treated at a major hospital.

Background/aims: Avulsion of a permanent tooth is one of the most severe traumatic dental injuries, comprising an estimated 0.5%-16% of all dental injuries. The aim of this study was to estimate the direct financial costs of tooth avulsion in children based on stage of root maturity and the occurrence of ankylosis and to report patients' characteristics and outcomes of treatment.

Avasopasem manganese (GC4419) protects against cisplatin-induced chronic kidney disease: An exploratory analysis of renal metrics from a randomized phase 2b clinical trial in head and neck cancer patients.

Head and neck squamous cell carcinoma (HNSCC) patients treated with high-dose cisplatin concurrently with radiotherapy (hdCis-RT) commonly suffer kidney injury leading to acute and chronic kidney disease (AKD and CKD, respectively). We conducted a retrospective analysis of renal function and kidney injury-related plasma biomarkers in a subset of HNSCC subjects receiving hdCis-RT in a double-blinded, placebo-controlled clinical trial (NCT02508389) evaluating the superoxide dismutase mimetic, avasopasem manganese (AVA), an investigational new drug. We found that 90 mg AVA treatment prevented a significant reduction in estimated glomerular filtration rate (eGFR) three months as well as six and twelve months after treatment compared to 30 mg AVA and placebo.

Single-nuclei transcriptomics enable detection of somatic variants in patient brain tissue.

Somatic variants are a major cause of human disease, including neurological disorders like focal epilepsies, but can be challenging to study due to their mosaicism in bulk tissue biopsies. Coupling single-cell genotype and transcriptomic data has potential to provide insight into the role somatic variants play in disease etiology, such as by determining what cell types are affected or how the mutations affect gene expression. Here, we asked whether commonly used single-nucleus 3'- or 5'-RNA-sequencing assays can be used to derive single-nucleus genotype data for a priori known variants that are located near to either end of a transcript.

The MPRINT Hub Data, Model, Knowledge and Research Coordination Center: Bridging the gap in maternal-pediatric therapeutics research through data integration and pharmacometrics.

Maternal and pediatric populations have historically been considered "therapeutic orphans" due to their limited inclusion in clinical trials. Physiologic changes during pregnancy and lactation and growth and maturation of children alter pharmacokinetics (PK) and pharmacodynamics (PD) of drugs. Precision therapy in these populations requires knowledge of these effects.

Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome.

Clinical practice guidelines for individuals with Turner syndrome (TS) recommend screening for neuropsychological concerns (NC) and mental health concerns (MHC). However, current provider screening and referral patterns for NC and MHC are not well characterized. Additionally, prevalence of and risk factors for NC and MHC vary across studies.

Outcomes before and after providing interdisciplinary hematology and pulmonary care for children with sickle cell disease.

People with sickle cell disease (pwSCD) are at risk of developing lung conditions that complicate their SCD but often face health care access barriers. An interdisciplinary clinic providing pulmonary care for pwSCD was created in 2014 at the Nationwide Children's Hospital (NCH) to address access barriers that may prevent optimized treatment. We hypothesize that pwSCD and pulmonary disease would have fewer hospitalizations for acute chest syndrome (ACS), asthma, and vaso-occlusive episodes in the 2 years after their initial SCD-pulmonary clinic visit compared with the 2 years before.

Communication within families about advanced pediatric cancer: A qualitative study.

Objectives: This qualitative study examined how families share information and feelings about advanced pediatric cancer from the perspective of both parents and children, as well as how these perspectives vary by child developmental stage.

Methods: Participants (24 mothers, 20 fathers, 23 youth [children and adolescents]) were from a larger longitudinal study at an academic pediatric hospital. Eligible youth had advanced cancer (physician-estimated prognosis of <60%, relapse, or refractory disease), were aged 5-19 years (>8 years old to participate independently), had an English-speaking parent, and lived within 140 miles of the hospital.

Qualitative Analysis of a Twitter-Disseminated Survey Reveals New Patient Perspectives on the Impact of Urinary Tract Infection.

Few studies have harnessed social media to explore patients' experiences with urinary tract infection (UTI); therefore, we captured UTI experiences and future research suggestions through a Twitter-disseminated survey. The survey posed three qualitative questions inquiring about the impact of UTIs, greatest UTI management hurdle, and research suggestions. We also asked participants to rate how seriously others perceive UTIs and the importance of UTIs in their life (scale: 1-100 (highest)).

Stay-at-home, Safe at Home? A survey of parental home safety practices before and during the COVID-19 pandemic.

Background: To slow the spread of COVID-19, many nonessential businesses, daycares, and schools closed, and areas imposed "stay-at-home" orders. Closures led to young children spending more time at home, traditionally, the place where more than one-half of unintentional pediatric injuries occur. The objective of the current study was to describe parental safety perceptions and confidence, safety device purchase and installation, and injury prevention practices and behaviors, in homes with children 6 years of age and younger, before and during the COVID-19 pandemic.

Pediatric oncofertility care in limited versus optimum resource settings: results from 39 surveyed centers in Repro-Can-OPEN Study Part I & II.

Purpose: As a secondary report to elucidate the diverse spectrum of oncofertility practices for childhood cancer around the globe, we present and discuss the comparisons of oncofertility practices for childhood cancer in limited versus optimum resource settings based on data collected in the Repro-Can-OPEN Study Part I & II.

Methods: We surveyed 39 oncofertility centers including 14 in limited resource settings from Africa, Asia, and Latin America (Repro-Can-OPEN Study Part I), and 25 in optimum resource settings from the USA, Europe, Australia, and Japan (Repro-Can-OPEN Study Part II). Survey questions covered the availability of fertility preservation and restoration options offered in case of childhood cancer as well as their degree of utilization.

Neurobiochemical biomarkers and other risk factors for post-traumatic acute stress disorder.

Trauma is a leading cause of mortality and morbidity around the world and many trauma patients could suffer from a series of cognitive and mental disorders including acute stress disorder (ASD). Yet, little research has been done to investigate the influencing factors and pathogenesis of post-traumatic ASD. Therefore, this study investigated main influencing factors and neurobiochemical biomarkers of ASD in trauma patients with a purpose of early clinical identification and intervention.

Diagnosis codes dramatically underestimate the burden of abuse.

Background: International Classification of Diseases (ICD) billing codes are not well-suited to estimate physical abuse prevalence among hospitalized patients and may be even less accurate in emergency departments (EDs). The Centers for Disease Control and Prevention (CDC) has recently published a child abuse and neglect syndromic surveillance definition to more accurately examine national abuse trends among ED visits.

Objective: To retrospectively apply the CDC syndromic definition to a population of physically abused children and determine its sensitivity for abuse in an ED and at hospital discharge.

Characteristics of Critically Ill Infants at the End of Life in the Neonatal Intensive Care Unit.

About 16,000 infants die in the neonatal intensive care unit (NICU) each year with many experiencing invasive medical treatments and high number of symptoms. To inform better management, we characterized diagnoses, symptoms, and patterns of care among infants who died in the NICU. Retrospective electronic medical record (EMR) review of 476 infants who died following admission to a large regional level IV NICU in the United States over a 10-year period.

Impact of elexacaftor-tezacaftor-ivacaftor on bacterial colonization and inflammatory responses in cystic fibrosis.

Background: Cystic fibrosis (CF) is a multisystem disease with progressive deterioration. Recently, CF transmembrane conductance regulator (CFTR) modulator therapies were introduced that repair underlying protein defects. Objective of this study was to determine the impact of elexacaftor-tezacaftor-ivacaftor (ETI) on clinical parameters and inflammatory responses in people with CF (pwCF).

Pediatric poison exposures reported to United States poison centers before and during the COVID-19 pandemic.

Objective: To assess the association of the COVID-19 pandemic with pediatric poison exposures with a focus on unintentional exposures associated with exploratory behavior among children <6 years old.

Methods: An interrupted time series analysis was conducted to evaluate the association of the pandemic with poison exposures among youth <20 years old. Exposures reported to US poison centers (PCs) from 1 March 2017 through 28 February 2020 (pre-pandemic) compared with 1 March 2020 through 28 February 2021 (pandemic) were analyzed.

Housing and supportive services for substance use and self-efficacy among young mothers experiencing homelessness: A randomized controlled trial.

Aims: Homeless mothers with young children in their care contend with high rates of substance use and low self-efficacy. However, a limited number of studies have examined these outcomes associated with housing and supportive services.

Design: Participants were randomly assigned to: (1) housing + support services (n = 80), (2) housing-only (n = 80), or (3) services as usual (SAU) (n = 80) and were re-assessed at 3-, 6-, 9- and 12-months postbaseline.

Traumatic dental injuries in high school athletes in the United States of America from 2005 to 2020.

Background/aim: Participation in sports activities is a source of dental injury. Despite recommendations for the use of mouthguards, athletes underutilize them. The aim of this study was to provide estimates of dental injuries, the mechanism of injuries and the utilization of mouthguards in high school sports.

Preliminary Validation of the Psychosocial Assessment Tool in the Neonatal Intensive Care Unit.

Objective: Research suggests families whose infants are admitted to the Neonatal Intensive Care Unit (NICU) experience elevated distress and may have pre-existing risk factors for maladjustment. This study sought to validate the newly developed Psychosocial Assessment Tool (PAT-NICU/Cardiac Intensive Care Unit [CICU]), a comprehensive screening measure for family psychosocial risk in the NICU.

Methods: The sample included 171 mothers, who completed the PAT-NICU/CICU and other related measures within 2 weeks of their infant's NICU admission at a level 4 unit within a large pediatric hospital.