Investigation of normalized protein catabolic rate as a marker of nutritional status in infants and children receiving chronic hemodialysis: a longitudinal cohort study.

Background: Children with kidney failure are at risk for compromised nutritional status due to a variety of challenges. Normalized protein catabolic rate (NPCR) below 1 g/kg/day has been associated with weight loss in adolescent patients on chronic hemodialysis. We sought to establish NPCR as a marker of nutritional status in patients on hemodialysis under age 13 years.

Prevalence of fibrosis in hepatic explants and biopsies from individuals with urea cycle disorders.

Background: Various forms of liver disease have been increasingly reported in individuals with urea cycle disorders (UCDs). In this study, we performed the first systematic and standardized histopathological assessment of the prevalence of fibrosis and steatosis in a large sample of hepatic explants and biopsies from individuals with UCDs at two liver transplantation centers.

Methods: Sixty-seven hepatic tissue samples from 66 individuals with UCDs were staged by two pathologists for hepatic fibrosis and steatosis using standard scoring systems at two large liver transplantation centers in the United States.

Autologous HIV-specific T cell therapy targeting conserved epitopes is well-tolerated in six adults with HIV: an open-label, single-arm phase 1 study.

Novel cellular therapies may enable HIV control or cure. HIV-specific T cells targeting conserved immunogenic protein regions of HIV Gag/Pol and the entirety of HIV Nef, termed HST-NEETs, eliminate HIV infected cells in vitro. Here we enroll seven participants in an open-label, single-arm phase 1 study (NCT03485963) to evaluate the safety (primary endpoint) of two autologous administrations of HST-NEET products without prescribed lymphodepletion.

Parental Perception of Quality of Life and Impact of Short Stature in Children with Hypochondroplasia and Other Genetic Causes of Short Stature.

Introduction: Short stature can lead to physical limitations and socioemotional effects limiting a child and parents' quality of life (QoL). This study investigates the impact of hypochondroplasia and other genetic causes (ACAN, NPR2 mutations, and RASopathy) of short stature on QoL.

Methods: Parents of participants in an ongoing phase II clinical trial of vosoritide in children with selected genetic causes of short stature completed the Quality of Life in Short Stature Youth (QoLISSY) survey.

Early Continuous Electroencephalography, Clinical Parameters, and Short-Term Functional Outcomes in Pediatric Traumatic Brain Injury: Single-Center, Retrospective Cohort, 2010-2020.

Objectives: Traumatic brain injury (TBI) is a leading cause of pediatric morbidity and mortality. This study first investigates clinical characteristics and continuous electroencephalography (cEEG) parameters associated with short-term functional outcomes in pediatric patients following TBI. Second, we use these data for a hypothesis-generating model about outcomes.

Phase 2 Trial of Vosoritide Use in Patients with Hypochondroplasia: A Pharmacokinetic/Pharmacodynamic Analysis.

Introduction: Vosoritide is a C-type natriuretic peptide (CNP) analog that binds its receptor on chondrocytes, promoting growth by inhibiting the ERK1/2-MAPK pathway. We previously reported the results of a phase II study in children with hypochondroplasia. Vosoritide led to an average increase in annualized height velocity (AHV) of 1.

Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years.

Background: Acute metabolic crises in inborn errors of metabolism (such as urea cycle disorders, organic acidemia, maple syrup urine disease, and mitochondrial disorders) are neurological emergencies requiring management in the pediatric intensive care unit (PICU). There is a paucity of data pertaining to electroencephalograms (EEG) characteristics in this cohort. We hypothesized that the incidence of background abnormalities and seizures in this cohort would be high.

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises.

Background: This retrospective clinical study performed at a single clinical center aimed to identify the prevalence of seizures in individuals with urea cycle disorders (UCDs) with and without hyperammonemic (HA) crises. In addition, we sought to correlate the utility of biochemical markers and electroencephalography (EEG) in detecting subclinical seizures during HA.

Methods: Medical records of individuals with UCDs enrolled in Urea Cycle Disorders Consortium Longitudinal Study (UCDC-LS) (NCT00237315) at Children's National Hospital between 2006 and 2022 were reviewed for evidence of clinical and subclinical seizuress during HA crises, and initial biochemical levels concurrently.

Vosoritide treatment for children with hypochondroplasia: a phase 2 trial.

Background: Hypochondroplasia is a rare autosomal dominant skeletal dysplasia due to activating variants in . It presents with disproportionate short stature with a wide range of clinical severity. There are currently no approved medications to treat short stature in children with hypochondroplasia.

Inhibition of ATM with KU-55933 Sensitizes Endometrial Cancer Cell Lines to Olaparib.

Background: Endometrial cancer (EC) is one of the most prevalent gynecologic cancers, which poses a serious threat to women's health worldwide. Olaparib, the first FDA-approved PARP inhibitor for the treatment of BRCA-mutated breast, ovarian and pancreatic cancers, triggers apoptosis of cancer cells through synthetic lethality by inhibiting PARP1/2 enzymatic activity and BRCA1/2-dependent homologous recombination (HR) repair deficiency. However, the synergistic lethal effects between Olaparib and inhibitors of other DNA damage response proteins, such as ATM, PTEN and RAD51, are still unknown.

Predictive Value of Methicillin-Resistant Staphylococcus aureus Nasal Swab PCR Assay for MRSA Infection in Critically Ill Pediatric Patients.

Background: Critically ill pediatric patients are frequently initiated methicillin-resistant Staphylococcus aureus (MRSA) active antibiotics during infection evaluation even though MRSA infections are rare in many patient populations. The MRSA nasal swab polymerase chain reaction assay (MRSA-NS-PCR) is a test that has been shown to have a high negative predictive value (NPV) for MRSA infection in adults. This study evaluated the diagnostic test characteristics of the MRSA-NS-PCR in predicting the presence of MRSA infection in critically ill pediatric patients.

Limbic network co-localization predicts pharmacoresistance in dysplasia-related epilepsy.

To evaluate the role of focal cortical dysplasia co-localization to cortical functional networks in the development of pharmacoresistance. One hundred thirty-six focal cortical dysplasia patients with 3.0 T or 1.

Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.

Purpose: Individuals with urea cycle disorders (UCDs) may develop recurrent hyperammonemia, episodic encephalopathy, and neurological sequelae which can impact Health-related Quality of Life (HRQoL). To date, there have been no systematic studies of HRQoL in people with UCDs.

Methods: We reviewed HRQoL and clinical data for 190 children and 203 adults enrolled in a multicenter UCD natural history study.

Feasibility and Challenges with Measuring Adverse Childhood Experiences in the Pediatric Intensive Care Unit.

Purpose: The Adverse Childhood Experiences (ACEs) screening tool captures some experiences of childhood adversity, ranging from abuse to parental separation. Research has shown a correlation between ACEs and both adult and childhood disease. This study evaluated the feasibility of conducting ACE screening in the pediatric intensive care unit (PICU) and investigated associations with markers for severity of illness and utilization of resources.

Focal to bilateral tonic-clonic seizures predict pharmacoresistance in focal cortical dysplasia-related epilepsy.

Objective: Focal cortical dysplasia (FCD) is the most common etiology of surgically-remediable epilepsy in children. Eighty-seven percent of patients with FCD develop epilepsy (75% is pharmacoresistant epilepsy [PRE]). Focal to bilateral tonic-clonic (FTBTC) seizures are associated with worse surgical outcomes.

Use of Evidence-Based Vital Signs in Pediatric Early Warning Score to Predict Clinical Deterioration on Acute Care Units.

The pediatric early warning score (PEWS) is a tool used to predict clinical deterioration. Referenced vital sign parameters are based on expert opinion but heart rate and respiratory rate percentiles in hospitalized children have been published. This retrospective case-control study of unplanned intensive care unit (ICU) transfers compares evidence-based vital signs (EBVS) effect on PEWS sensitivity and specificity, determines the impact of age categories on PEWS deterioration prediction, and evaluates whether EBVS PEWS is associated with need for invasive ICU supports.

Positive and negative effects of the COVID-19 pandemic on families of young children in rural Colombia and implications for child outcome research.

Background: The COVID-19 pandemic has impacted the lives of children and families worldwide. The objective of this study is to examine exposures and impact of the COVID-19 pandemic on preschool-aged children and caregivers in the Atlántico region of Colombia.

Methods: The COVID-19 Exposure and Family Impact Scales (CEFIS) questionnaire was administered in Fall 2021 to 63 caregivers of children in Sabanalarga, Colombia enrolled in a neurodevelopment study as healthy controls.

Stability of trapped Bose-Einstein condensate under a density-dependent gauge field.

We study the ground-state stability of the trapped one-dimensional Bose-Einstein condensate under a density-dependent gauge field by variational and numerical methods. The competition of density-dependent gauge field and mean-field atomic interaction induces the instability of the ground state, which results in irregular dynamics. The threshold of the gauge field for exciting the instability is obtained analytically and confirmed numerically.

Telemedicine in sickle cell disease: Patient, parent, and provider perspectives.

Introduction: Patients with sickle cell disease (SCD) need frequent health maintenance visits and may face barriers accessing care. Telemedicine, during COVID pandemic, has provided a unique model of care to improve access; however, potential barriers and satisfaction with its use in SCD have not been fully evaluated.

Objective: To determine caregiver, patient, and healthcare provider (HCP) perspectives and satisfaction with telemedicine in healthcare delivery.

Preschool neurodevelopment in Zika virus-exposed children without congenital Zika syndrome.

Background: Children with in utero Zika virus (ZIKV) exposure without congenital Zika syndrome (CZS) are at risk for abnormal neurodevelopment. Preschool-age outcomes for children with antenatal ZIKV exposure have not yet been established.

Methods: Children with in utero ZIKV exposure and non-exposed controls had neurodevelopmental evaluations at age 3-5 years in Sabanalarga, Colombia.

Neurodevelopment in infants with antenatal or early neonatal exposure to SARS-CoV-2.

Background: Antenatal and neonatal viral exposure may put the developing brain at risk for abnormal neurodevelopment. A clinical program at Children's National Hospital provides detailed follow-up of infants with in utero or neonatal SARS-CoV-2 exposure.

Aims: To determine impact of early SARS-CoV-2 exposure on neurodevelopment.

Prevalence and Risk Factors for Pharmacoresistance in Children With Focal Cortical Dysplasia-Related Epilepsy.

Background And Objectives: Focal cortical dysplasia (FCD) is the most common cause of surgically remediable epilepsy in children. Little is known about the risk factors for the timing and development of pharmacoresistance in this population. This study sought to evaluate the prevalence and risk factors for pharmacoresistance in pediatric FCD-related epilepsy.

Leveraging technology to make parent training more accessible: Randomized trial of in-person versus online executive function training for parents of autistic children.

This study compared the first online parent training program for executive function intervention for autism to in-person parent training on the same content. Participants were parents of autistic children, who were between 8 and 12 years of age and did not have intellectual disability. Parents were randomized to the in-person ( = 51) or online ( = 46) training conditions.