is implicated in central nervous system, orofacial and maxillofacial anomalies.

Background: Previous studies in mouse, and zebrafish embryos show strong expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role of human transcription factor activator protein 2 ( in human embryonic central nervous system (CNS), orofacial and maxillofacial development is unknown.

Methods: Through a collaborative work, exome survey was performed in families with congenital CNS, orofacial and maxillofacial anomalies.

Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.

Heterozygous pathogenic variants in are associated with oligodontia-colorectal cancer syndrome (ODCRCS), a disorder characterized by oligodontia, colorectal cancer, and in some cases, sparse hair and eyebrows. We have identified four individuals with one of two , heterozygous variants (NM_004655.4:c.

-related disorder in 87 adults: Natural history and self-sustainability.

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

Using Hybrid Coating to Fabricate Highly Stable and Expandable Transparent Liquid Marbles.

Liquid marbles (LMs) are microliter-scale droplets coated with hydrophobic solid particles. The particle size and hydrophobicity of the surface coating determine their properties, such as transparency, expandability, and resistance to evaporation and coalescence, one or more of which can be critical to their application as microreactors. This study reports the use of a mixture of two different hydrophobic powders for fabrication of LMs for colorimetric assays: trichloro(1,1,2,2-perfluorooctyl) silane-linked silica gel (modified silica gel (MSG), particle size: 40-75 μm) and hexamethyldisilazane-linked fumed silica (modified fumed silica (MFS), average aggregate length: 200-300 nm).

Neurosurgery and the Brain-Computer Interface.

Brain-computer interfaces (BCIs) are devices that connect the human brain to an effector via a computer and electrode interface. BCIs may also transmit sensory data to the brain. We describe progress with the many types of surgically implanted BCIs, in which electrodes contact or penetrate the cerebral cortex.

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.

Chromosomal inversions (INVs) are particularly challenging to detect due to their copy-number neutral state and association with repetitive regions. Inversions represent about 1/20 of all balanced structural chromosome aberrations and can lead to disease by gene disruption or altering regulatory regions of dosage-sensitive genes in Short-read genome sequencing (srGS) can only resolve ∼70% of cytogenetically visible inversions referred to clinical diagnostic laboratories, likely due to breakpoints in repetitive regions. Here, we study 12 inversions by long-read genome sequencing (lrGS) ( = 9) or srGS ( = 3) and resolve nine of them.

Health care resource utilization and costs across stages of amyotrophic lateral sclerosis in the United States.

Background: People living with ALS (plwALS) experience motor control loss, speech/swallowing difficulties, respiratory insufficiency, and early death. Advancing disease stage is typically associated with a greater burden on the health care system, and delays in diagnosis can result in substantial health care resource utilization (HCRU).

Objective: To estimate HCRU and cost burden of plwALS across disease stages from a US payer perspective we assessed HCRU and costs in early-, mid-, and late-stage ALS.

Development of a Patient-reported Outcome Measure for Patients With Ureteral Stricture Disease.

Objective: To develop a patient-reported outcome measure (PROM) using qualitative patient-centered methods and expert opinion to quantify the impact of ureteral stricture disease (USD) and its management.

Methods: Patients undergoing robotic ureteral reconstruction for USD between 9/2021-4/2023 were enrolled. A novel patient-reported outcome was developed in four steps: (1) Semistructured concept elicitation interviews to evaluate the physical, mental, and social effects of USD; (2) Item generation based on themes identified in the interview transcripts, existing patient-reported outcomes on health-related Quality of Life, and expert opinion; (3) Feedback on the generated items from a panel of external clinicians with high surgical volume for USD; and (4) Cognitive interviews assessing patient comprehension and relevance.

An exploration of factors leading to readiness for organizational health literacy change in community-based health organizations.

Introduction: Healthcare systems have a responsibility to improve organizational health literacy (OHL) to increase health equity. This study explored two organizational cultural factors, leadership support and staff buy-in, for organizations planning OHL change.

Methods: Ten community-based health organizations participated in an OHL program.

Neurodevelopmental Disorder Caused by Deletion of , a lncRNA Gene.

encodes a human long noncoding RNA (lncRNA) adjacent to , a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in three unrelated children with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with haploinsufficiency.

RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.

Williams syndrome (WS) is a rare multisystemic disorder caused by recurrent microdeletions on 7q11.23, characterized by intellectual disability, distinctive craniofacial and dental features, and cardiovascular problems. Previous studies have explored the roles of individual genes within these microdeletions in contributing to WS phenotypes.

Design Justice, a Counternarrative to Dominant Approaches in Medical Education.

Phenomenon: Marginalized individuals in medicine face many structural inequities which can have enduring consequences on their progress. Therefore, inequity must be addressed by dismantling underlying unjust policies, environments, and curricula. However, once these injustices have been taken apart, how do we build more just systems from the rubble? Many current strategies to address this question have foundational values of urgency, solutionism, and top-down leadership.

Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome.

Fine-Lubinsky syndrome is a rare clinically defined syndrome sometimes referred to as brachycephaly, deafness, cataract, microstomia, and impaired intellectual development syndrome. Here we provide a clinical and molecular update for a sibling pair diagnosed with Fine-Lubinsky syndrome. An extensive genetic work-up, including chromosomal microarray analysis and quad exome sequencing, was nondiagnostic.

A review of complications after ureteral reconstruction.

Objective: This study aimed to provide a comprehensive overview of the complications unique to ureteral reconstruction in adults, emphasizing their presentation, diagnosis, and management in the treatment of ureteral structure disease.

Methods: This review involves an in-depth analysis of existing literature and case studies pertaining to ureteral reconstruction, with a focus on examining the range of complications that can arise post-surgery. Special attention is given to the presentation of each complication, the diagnostic process involved, and the subsequent management strategies.

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

Purpose: Epigenetic dysregulation has been associated with many inherited disorders. RBBP5 (HGNC:9888) encodes a core member of the protein complex that methylates histone 3 lysine-4 and has not been implicated in human disease.

Methods: We identify 5 unrelated individuals with de novo heterozygous variants in RBBP5.