Genetic counselors' perspectives on genomic screening of apparently healthy newborns in the United States.

Purpose: There is growing international interest in using genomic sequencing to screen newborns and children for treatable genomic conditions. Although recent research has demonstrated increasing support for using genomic sequencing to screen newborns and children for treatable genomic conditions among various stakeholders, little is known about the perspectives of genetic counselors (GCs) in the United States, who are frequently engaged in the disclosure of positive newborn screening results and coordination of follow-up testing and management.

Methods: This study utilized a cross-sectional 3-section survey to explore GCs' perspectives on the benefits, limitations, and ethical and practical considerations of genomic sequencing in newborns as an adjunct screen to standard newborn screening (NBS).

Magnesium and Potassium Supplementation for Systolic Blood Pressure Reduction in the General Normotensive Population: A Systematic Review and Subgroup Meta-Analysis for Optimal Dosage and Treatment Length.

Background/objectives: Studies have shown that consistent reductions of 2 mm Hg in systolic blood pressure (SBP) for the general normotensive population can result in significant decreases in mortality from heart disease and stroke. The purpose of this meta-analysis was to determine the optimal dose and duration of treatment for magnesium and potassium supplementation, having previously discovered that both reduce SBP by -2.79 and -2.

Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.

Background And Objectives: Many genetic conditions present in the NICU, where a diagnostic evaluation is pursued. However, understanding of the impact of a genetic diagnosis on clinical outcomes and health-related quality of life for these infants remains incomplete. We therefore evaluated parent-reported outcomes complemented by clinical outcomes measures over one year for a cohort of infants in the NICU undergoing genetic evaluation.

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.

Several genetic disorders are associated with either a permanent deficit or a delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) with deficient myelination after clinical and radiological evaluation. A combinatorial approach of targeting and/or genomic testing was employed.

Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns.

Genomic sequencing has been proposed as a strategy to expand newborn screening. Perspectives on genomic newborn screening from parents of diverse racial, ethnic, and socioeconomic backgrounds are needed to shape equitable implementation of this modality. We conducted 20 semi-structured interviews (15 English, 5 Spanish) and seven focus groups (4 English, 3 Spanish) with parents from diverse backgrounds to assess their perspectives regarding which disorders and variants might be screened, data privacy, and barriers to pursuing specialized care.

Assessing the Quality of Patient Education Materials on Cardiac Catheterization From Artificial Intelligence Chatbots: An Observational Cross-Sectional Study.

Background Health literacy empowers patients to participate in their own healthcare. Personal health literacy is one's ability to find, understand, and use information/resources to make well-informed health decisions. Artificial intelligence (AI) has become a source for the acquisition of health-related information through large language model (LLM)-driven chatbots.

Assessing the performance of multi-InDel panels for human identification among admixed Brazilians.

Insertion/deletion polymorphisms, or InDels, are widely present in the human genome. They have been considered as potential markers for forensic analysis because they can be genotyped using the CE platform and compatible typing techniques used in forensic laboratories. Additionally, InDels have lower mutation rates and often short amplicon sizes, making them ideal for detecting degraded samples.

Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project.

Purpose: It is essential that studies of genomic sequencing (GS) in newborns and children include individuals from under-represented racial and ethnic groups (URG) to ensure future applications are equitably implemented. We conducted interviews with parents from URG to better understand their perspectives on GS research, develop strategies to reduce barriers to enrollment, and facilitate research participation.

Methods: Semi-structured interviews with 50 parents from URG.

A method for quantitative spatial analysis of immunolabeled fibers at regenerative electrode interfaces.

Background: Regenerative electrodes are being explored as robust peripheral nerve interfaces for neuro-prosthetic control and sensory feedback. Current designs differ in electrode number, spatial arrangement, and porosity which impacts the regeneration, activation, and spatial distribution of fibers at the device interface. Knowledge of sensory and motor fiber distributions are important in optimizing selective fiber activation and recording.

A Systematic Review of Air Pollution Exposure and Brain Structure and Function during Development.

Objectives: Air pollutants are known neurotoxicants. In this updated systematic review, we evaluate new evidence since our 2019 systematic review on the effect of outdoor air pollution exposure on childhood and adolescent brain structure and function as measured by magnetic resonance imaging (MRI).

Methods: Using PubMed and Web of Science, we conducted an updated literature search and systematic review of articles published through March 2024, using key terms for air pollution and functional and/or structural MRI.

School readiness profiles: Does the quality of preschool education matter?

Studies evaluating school readiness profiles and quality of early education are scarce and have produced inconsistent results. This study aimed to identify school readiness profiles, correlating them with the quality of education, in an epidemiological sample of 722 children (4 and 5 years old; 48.9% female).

A Mystery in a Case: Unraveling the Complexity of Bing-Neel Syndrome.

Waldenström's macroglobulinemia (WM) is a B-cell non-Hodgkin's lymphoma characterized by clonal IgM-secreting lymphoplasmacytic cell proliferation. Bing-Neel syndrome (BNS) is a rare complication of WM that results in the infiltration of the central nervous system (CNS) with IgM-secreting lymphoplasmacytic cells. This case study presents a 75-year-old Caucasian male with a history of WM and Agent Orange exposure who ultimately was diagnosed with BNS.

Semaphorin heterodimerization in cis regulates membrane targeting and neocortical wiring.

Disruption of neocortical circuitry and architecture in humans causes numerous neurodevelopmental disorders. Neocortical cytoarchitecture is orchestrated by various transcription factors such as Satb2 that control target genes during strict time windows. In humans, mutations of SATB2 cause SATB2 Associated Syndrome (SAS), a multisymptomatic syndrome involving epilepsy, intellectual disability, speech delay, and craniofacial defects.

Anti-CD7 allogeneic WU-CART-007 in patients with relapsed/refractory T-cell acute lymphoblastic leukemia/lymphoma: a phase 1/2 trial.

Relapsed/refractory T-cell acute lymphoblastic leukemia (ALL)/lymphoma (LBL) represent a significant unmet medical need. WU-CART-007 is a CD7-targeting, allogeneic, fratricide-resistant chimeric antigen receptor T cell product generated from healthy donor T cells. WU-CART-007 was evaluated in a phase 1/2 study with a 3 + 3 dose-escalation design followed by cohort expansion in relapsed/refractory T-ALL/LBL.

Assessing the Readability of Patient Education Materials on Cardiac Catheterization From Artificial Intelligence Chatbots: An Observational Cross-Sectional Study.

Background: Artificial intelligence (AI) is a burgeoning new field that has increased in popularity over the past couple of years, coinciding with the public release of large language model (LLM)-driven chatbots. These chatbots, such as ChatGPT, can be engaged directly in conversation, allowing users to ask them questions or issue other commands. Since LLMs are trained on large amounts of text data, they can also answer questions reliably and factually, an ability that has allowed them to serve as a source for medical inquiries.

Real-world evaluation of vascular complications and comorbidities in Portuguese patients with type 2 diabetes: Results from the cMORE study.

Introduction And Objectives: Type 2 diabetes poses a significant health challenge in Portugal, increasing the susceptibility to complications/comorbidities such as hypertension, obesity, and cardiovascular (CV) disease. This study aimed to evaluate the prevalence of type 2 diabetes-related vascular complications/comorbidities and their pharmacological management in Portugal.

Methods: cMORE was a non-interventional, cross-sectional, multicenter study conducted in 32 Portuguese primary healthcare units between October 2020 and 2022.

Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.

Background And Objectives: Many genetic conditions present in the neonatal intensive care unit (NICU), where a diagnostic evaluation is pursued. However, understanding of the impact of a genetic diagnosis on clinical outcomes and health-related quality of life for these infants remains incomplete. We therefore evaluated parent-reported outcomes complemented by clinical outcomes measures over one year for a cohort of infants in the NICU undergoing genetic evaluation.

Protein translation rate determines neocortical neuron fate.

The mammalian neocortex comprises an enormous diversity regarding cell types, morphology, and connectivity. In this work, we discover a post-transcriptional mechanism of gene expression regulation, protein translation, as a determinant of cortical neuron identity. We find specific upregulation of protein synthesis in the progenitors of later-born neurons and show that translation rates and concomitantly protein half-lives are inherent features of cortical neuron subtypes.

Alterations in the Gut Microbiome Composition of People Living with HIV in the Asia-Pacific Region: A Systematic Review.

Human immunodeficiency virus (HIV) infection continues to present a global health issue. Recent studies have explored the potential role of the gut microbiome in HIV infection for novel therapeutic approaches. We investigated the gut microbiome composition of people living with HIV (PLHIV) in the Asia-Pacific region.