Prenatal Diagnosis of Congenital Heart Disease in Liveborn Infants in the New England Region.

Prenatal diagnosis of congenital heart disease requiring early cardiac catheterization or surgical intervention enables optimal delivery planning for appropriate postnatal cardiovascular intervention and care. This allows for improved morbidity and mortality. Prior national data reported prenatal diagnosis rates of 32% for congenital heart disease requiring intervention in infants in the first 6 months of life in the New England region.

Contraceptive use and pregnancy in cystic fibrosis: Survey findings from 10 cystic fibrosis centers.

Background: Reproductive life planning is key, now that people with cystic fibrosis (pwCF) may live into their 60s. This study explores contraceptive use, pregnancy trends, and whether concomitant cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy reduces contraceptive effectiveness.

Methods: Females with CF aged 18-45 years from 10 U.

Association of neighborhood Child Opportunity Index with visual outcomes in children with unilateral pediatric cataract.

Purpose: To demonstrate the association between neighborhood quality, using the Child Opportunity Index (COI), and the visual outcomes in children with unilateral pediatric cataract.

Methods: We retrospectively reviewed the medical records of patients ≤18 years of age who presented at Boston Children's Hospital between 2000 and 2022 with unilateral cataracts and underwent cataract extraction. The collected data included patient demographics, residential addresses, the reason for the initial presentation, the age at presentation, the morphology of the cataract, and the final visual acuity.

Highly multiplexed spatial transcriptomics in bacteria.

Single-cell decisions made in complex environments underlie many bacterial phenomena. Image-based transcriptomics approaches offer an avenue to study such behaviors, yet these approaches have been hindered by the massive density of bacterial messenger RNA. To overcome this challenge, we combined 1000-fold volumetric expansion with multiplexed error-robust fluorescence in situ hybridization (MERFISH) to create bacterial-MERFISH.

Quality of life disparities among Mexican people with systemic lupus erythematosus.

Higher prevalence and worst outcome have been reported among people with systemic lupus erythematosus with non-European ancestries, with both genetic and socioeconomic variables as contributing factors. In Mexico, studies assessing the inequities related to quality of life for Systemic Lupus Erythematosus patients remain sparse. This study aims to assess the inequities related to quality of life in a cohort of Mexican people with SLE.

Endothelial FOXM1 and Dab2 promote diabetic wound healing.

Diabetes mellitus can cause impaired and delayed wound healing, leading to lower extremity amputations; however, the mechanisms underlying the regulation of vascular endothelial growth factor-dependent (VEGF-dependent) angiogenesis remain unclear. In our study, the molecular underpinnings of endothelial dysfunction in diabetes are investigated, focusing on the roles of disabled-2 (Dab2) and Forkhead box M1 (FOXM1) in VEGF receptor 2 (VEGFR2) signaling and endothelial cell function. Bulk RNA-sequencing analysis identified significant downregulation of Dab2 in high-glucose-treated primary mouse skin endothelial cells.

Economic and equity evaluation of age restrictions on over-the-counter diet pills and muscle-building supplements.

Over-the-counter diet pills and muscle-building supplements are linked to increased eating disorder diagnoses, especially among youth. With limited regulatory oversight, minors may unknowingly consume harmful substances leading to other adverse effects. Massachusetts has proposed restricting sales to individuals under 18 years.

Surgical management of short-segment Hirschsprung disease.

Hirschsprung disease (HSCR) is the most common congenital motility disorder of the intestine, characterized by the absence of ganglion cells in the myenteric and submucosal plexuses, leading to functional bowel obstruction. Short-segment Hirschsprung disease (SS-HSCR) accounts for the majority of cases, with surgical resection being the cornerstone of treatment. Despite advances in surgical techniques, considerable variability exists in practice regarding the timing of surgery, the choice of technique, and the length of aganglionic rectal cuff to resect.

Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders.

Neurodevelopmental disorders (NDDs) affect 4.7% of the global population and are associated with delays in brain development and a spectrum of impairments that can lead to lifelong disability and even mortality. Identification of biomarkers for accurate diagnosis and medications for effective treatment are lacking, in part due to the historical use of preclinical model systems that do not translate well to the clinic for neurological disorders, such as rodents and heterologous cell lines.

CD45-PET is a robust, non-invasive tool for imaging inflammation.

Imaging inflammation holds immense potential for advancing the diagnosis, treatment and prognosis of many conditions. The lack of a specific and sensitive positron emission tomography (PET) probe to detect inflammation is a critical challenge. To bridge this gap, we present CD45-PET imaging, which detects inflammation with exceptional sensitivity and clarity in several preclinical models.

Multiscale footprints reveal the organization of cis-regulatory elements.

Cis-regulatory elements (CREs) control gene expression and are dynamic in their structure and function, reflecting changes in the composition of diverse effector proteins over time. However, methods for measuring the organization of effector proteins at CREs across the genome are limited, hampering efforts to connect CRE structure to their function in cell fate and disease. Here we developed PRINT, a computational method that identifies footprints of DNA-protein interactions from bulk and single-cell chromatin accessibility data across multiple scales of protein size.

RELMβ sets the threshold for microbiome-dependent oral tolerance.

Tolerance to dietary antigens is critical for avoiding deleterious type 2 immune responses resulting in food allergy (FA) and anaphylaxis. However, the mechanisms resulting in both the maintenance and failure of tolerance to food antigens are poorly understood. Here we demonstrate that the goblet-cell-derived resistin-like molecule β (RELMβ) is a critical regulator of oral tolerance.

Genome Wide and Rare Variant Association Studies of Amblyopia in the All of Us Research Program.

Objective: Amblyopia is characterized by decreased visual acuity due to abnormal visual experience during development. It affects approximately three percent of the population and is associated with abnormal development of the visual cortex. Despite treatment, many patients have residual visual acuity deficits.

Use of an enuresis alarm to guide timing of post-void residual volume assessment in infants and medically-complex, non-verbal children.

Objectives: To test the feasibility and efficacy of using an enuresis alarm to guide timing of post-void residual (PVR) measurement in two different cohorts of non-verbal, non-toilet trained pediatric patients.

Methods: We prospectively enrolled 15 infants (Group 1) and 15 medically-complex patients (Group 2) to undergo an 8-hour study period that included a 4-hour intervention period with alarm (PVR after alarm trigger) and a 4-hour control period of routine care (PVR when nurses observe wet diapers). The primary endpoint of PVR volume was analyzed using linear regression with volume as the dependent variable and both study period and patient weight as independent variables.

The U.S.A. eligible retinopathy of prematurity screening population 2003-2022: WONDER-ROP Study.

Purpose: To delineate the trends of the United States population eligible for retinopathy of prematurity (ROP) screening as defined by the Joint Statement Screening Guidelines of the American Academies of Pediatrics and Ophthalmology from the Centers for Disease Control using the Wide-ranging Online Data for Epidemiologic Research (WONDER) Database.

Design: National, retrospective study.

Subjects: Infants with ROP in the United States between 2003 and 2022.

Examining Concurrent Associations Between Gesture Use, Developmental Domains, and Autistic Traits in Toddlers With Down Syndrome.

Purpose: Toddlers with Down syndrome (DS) showcase comparable or higher rates of gestures than chronological age- and language-matched toddlers without DS. Little is known about how gesture use in toddlers with DS relates to multiple domains of development, including motor, pragmatics, language, and visual reception (VR) skills. Unexplored is whether gesture use is a good marker of social communication skills in DS or if gesture development might be more reliably a marker of motor, language, pragmatics, or VR skills.

Development of a 3D cephalometric index to grade severity of dentofacial deformity in patients with juvenile idiopathic arthritis.

This investigation aimed to develop a radiographic 3D cephalometric index to grade severity of dentofacial deformity in patients with juvenile idiopathic arthritis (JIA), and to perform a validation against expert evaluations. Data were collected from a population-based Nordic JIA cohort of 240 patients that received a cone-beam computed tomography (CBCT) scan approximately 17 years after onset of JIA. The cohort was randomized into two groups: A baseline group for establishing the index (n = 210) and a test group (n = 30).

Parental origin of transgene modulates amyloid-β plaque burden in the 5xFAD mouse model of Alzheimer's disease.

In Alzheimer's disease (AD) research, the 5xFAD mouse model is commonly used as a heterozygote crossed with other genetic models to study AD pathology. We investigated whether the parental origin of the 5xFAD transgene affects plaque deposition. Using quantitative light-sheet microscopy, we found that paternal inheritance of the transgene led to a 2-fold higher plaque burden compared with maternal inheritance, a finding consistent across multiple 5xFAD colonies.

Understanding the Glycosylation Pathways Involved in the Biosynthesis of the Sulfated Glycan Ligands for Siglecs.

Carbohydrate sulfation plays a pivotal role in modulating the strength of Siglec-glycan interactions. Recently, new aspects of Siglec binding to sulfated cell surface carbohydrates have been discovered, but the class of glycan presenting these sulfated Siglec ligands has not been fully elucidated. In this study, the contribution of different classes of glycans to and Siglec ligands was investigated within cells expressing the carbohydrate sulfotransferase 1 (CHST1) or CHST2.

"Update on pediatric primary liver tumors".

Liver masses are common in children, however primary malignant neoplasms are rare, representing only 1% of all pediatric cancers. Hepatocellular neoplasms are the most common primary liver malignancies and hepatoblastoma (HB) is the most frequently diagnosed. The incidence of HB, which is increasing, is approximately of 2 cases per million in the United States, followed by hepatocellular carcinoma (HCC).