Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.

Purpose: The purpose of this study was to determine the natural history of the photoreceptor disease in a large group of pediatric patients with RHD12-associated Leber congenital amaurosis (RDH12-LCA), to estimate the changes expected over the duration of a clinical trial, and to define the relationship between the photoreceptor loss and visual dysfunction.

Methods: Forty-six patients representing 36 families were included. The great majority of patients were under the age of 18 years.

Effect of Universal Masking on Non-Severe Acute Respiratory Syndrome Coronavirus 2 Healthcare-Associated Respiratory Viral Infections.

Background: Respiratory viral infections are common and are a major cause of morbidity and mortality. We evaluated the impact of universal masking implemented during the coronavirus disease 2019 (COVID-19) pandemic on other healthcare-associated respiratory viral infections (HA-RIs) in an academic medical center.

Methods: A retrospective cohort study was performed among all inpatients aged ≥18 years admitted between 1 May 2019 and 30 June 2022.

Evaluation of a National Sample of 16,671 Pediatric Burn Admissions: Identifying Predictors of Non-accidental Pediatric Burns.

Background: Burn injuries remain one of the leading causes of injury and death in children. Studies have demonstrated a higher mortality for pediatric burns associated with non-accidental injury. Using data from a burn registry, our study aimed to discern potential factors associated with non-accidental burn injuries.

Vascular Access for Renal Replacement Therapy in Neonates and Infants: A Single Center Experience.

Introduction: Neonatal renal replacement therapy (RRT) is a treatment modality used for severe kidney failure. Historically, its use has been limited in small infants due to circuits with large extra-corporeal volumes that require large double lumen vascular catheters. We sought to review our institution's experience with vascular access and overall survival in infants who receive RRT.

Firearm Injuries Are on the Rise: The Results of a Pediatric Trauma Center Review.

Introduction: Firearm injury is the leading cause of death in children. The recent rise has coincided with the COVID-19 pandemic. The purpose of this study was to evaluate the trends of pediatric firearm injury over a 6-y period, to include the COVID-19 pandemic, at our pediatric trauma center.

Deuteration of non-labile protium in starch: Biosynthesis and characterisation from yeast-derived starch granules.

Deuterium labelling of the non-labile protium atoms in starch granules has been achieved for the first time, by growing genetically modified yeast on deuterated media. Mass spectrometry of the glucose monomers from digested starch showed 44 % average deuteration of the non-labile protium when grown on partially deuterated raffinose (with average deuteration 48 %); yielding starch with 26 % average overall deuteration. Non-labile deuteration was also demonstrated using DO solvent in the culture medium.

Measuring Pectus Excavatum Severity, External Caliper, or Cross-Sectional Imaging: Family Perceptions.

Introduction: Patients with pectus excavatum (PE) often undergo cross-sectional imaging (CSI) to quantify severity for insurance authorization before surgical repair. The modified percent depth (MPD), an external caliper-based metric, was previously validated to be similar to the pectus index and correction index. This study explored family perceptions of CSI and MPD with respect to value and costs.

Ocean warming undermines the recovery resilience of New England kelp forests following a fishery-induced trophic cascade.

Ecological theory predicts that kelp forests structured by trophic cascades should experience recovery and persistence of their foundation species when herbivores become rare. Yet, climate change may be altering the outcomes of top-down forcing in kelp forests, especially those located in regions that have rapidly warmed in recent decades, such as the Gulf of Maine. Here, using data collected annually from 30+ sites spanning >350 km of coastline, we explored the dynamics of Maine's kelp forests in the ~20 years after a fishery-induced elimination of sea urchin herbivores.

DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2.

Polarized vesicular trafficking directs specific receptors and ion channels to cilia, but the underlying mechanisms are poorly understood. Here we describe a role for DLG1, a core component of the Scribble polarity complex, in regulating ciliary protein trafficking in kidney epithelial cells. Conditional knockout of Dlg1 in mouse kidney causes ciliary elongation and cystogenesis, and cell-based proximity labeling proteomics and fluorescence microscopy show alterations in the ciliary proteome upon loss of DLG1.

Vascular Access Team Central Line Dressing Changes to Reduce Infection Risk: A Focused Two-Person Approach in High-Risk Patients.

Due to low compliance by bedside nursing with a central line-associated bloodstream infection (CLABSI) prevention bundle and increased CLABSI rates, a mandatory re-education initiative at a 1200-bed university-affiliated hospital was undertaken. Despite this, 2 units, housing high-risk immunocompromised patients, continued to experience increased CLABSI rates. A quality improvement before-after project design in these units replaced bedside nursing staff with 2 nurses from the vascular access team (VAT) to perform central vascular access device (CVAD) dressing changes routinely every 7 days or earlier if needed.

Effect of Early vs Late Inguinal Hernia Repair on Serious Adverse Event Rates in Preterm Infants: A Randomized Clinical Trial.

Importance: Inguinal hernia repair in preterm infants is common and is associated with considerable morbidity. Whether the inguinal hernia should be repaired prior to or after discharge from the neonatal intensive care unit is controversial.

Objective: To evaluate the safety of early vs late surgical repair for preterm infants with an inguinal hernia.

Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.

Background: Pathogenic variants in STXBP1/MUNC18-1 cause severe encephalopathies that are among the most common in genetic neurodevelopmental disorders. Different molecular disease mechanisms have been proposed, and pathogenicity prediction is limited. In this study, we aimed to define a generalized disease concept for STXBP1-related disorders and improve prediction.

Utility of a Benchmarking Report for Balancing Infection Prevention and Antimicrobial Stewardship in Children With Complicated Appendicitis.

Objective: To develop a severity-adjusted, hospital-level benchmarking comparative performance report for postoperative organ space infection (OSI) and antibiotic utilization in children with complicated appendicitis.

Background: No benchmarking data exist to aid hospitals in identifying and prioritizing opportunities for infection prevention or antimicrobial stewardship in children with complicated appendicitis.

Methods: This was a multicenter cohort study using National Surgical Quality Improvement Program-Pediatric data from 16 hospitals participating in a regional research consortium, augmented with antibiotic utilization data obtained through supplemental chart review.

Postoperative Antibiotics, Outcomes, and Resource Use in Children With Gangrenous Appendicitis.

Importance: Gangrenous, suppurative, and exudative (GSE) findings have been associated with increased surgical site infection (SSI) risk and resource use in children with nonperforated appendicitis. Establishing the role for postoperative antibiotics may have important implications for infection prevention and antimicrobial stewardship.

Objective: To compare SSI rates in children with nonperforated appendicitis with GSE findings who did and did not receive postoperative antibiotics.

Intestinal Atresias: A Ten-Year Evaluation of Outcomes.

Introduction: Intestinal atresia is a common cause of neonatal bowel obstruction. Atresias are often associated with other congenital anomalies. The purpose of the study was to evaluate associated anomalies, operative management, and postoperative outcomes of infants with intestinal atresia.

Multi-omic and functional analysis for classification and treatment of sarcomas with FUS-TFCP2 or EWSR1-TFCP2 fusions.

Linking clinical multi-omics with mechanistic studies may improve the understanding of rare cancers. We leverage two precision oncology programs to investigate rhabdomyosarcoma with FUS/EWSR1-TFCP2 fusions, an orphan malignancy without effective therapies. All tumors exhibit outlier ALK expression, partly accompanied by intragenic deletions and aberrant splicing resulting in ALK variants that are oncogenic and sensitive to ALK inhibitors.

De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of .

Bardet-Biedl syndrome (BBS) is an archetypal ciliopathy caused by dysfunction of primary cilia. BBS affects multiple tissues, including the kidney, eye and hypothalamic satiety response. Understanding pan-tissue mechanisms of pathogenesis versus those which are tissue-specific, as well as gauging their associated inter-individual variation owing to genetic background and stochastic processes, is of paramount importance in syndromology.