Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.

SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation of is associated with a wide spectrum of skeletal disorders, including campomelic dysplasia, acampomelic campomelic dysplasia, and scoliosis. Yet how variants contribute to the spectrum of axial skeletal disorders is not well understood.

Comprehensive analysis of H3K27me3 LOCKs under different DNA methylation contexts reveal epigenetic redistribution in tumorigenesis.

Background: Histone modification H3K27me3 plays a critical role in normal development and is associated with various diseases, including cancer. This modification forms large chromatin domains, known as Large Organized Chromatin Lysine Domains (LOCKs), which span several hundred kilobases.

Result: In this study, we identify and categorize H3K27me3 LOCKs in 109 normal human samples, distinguishing between long and short LOCKs.

Association of Rate of Functional Recovery With Therapy Time and Content Among Adults With Acquired Brain Injuries in Inpatient Rehabilitation.

Objective: To examine associations among the time and content of rehabilitation treatment with self-care and mobility functional gain rate for adults with acquired brain injury.

Design: Retrospective cohort study using electronic health record and administrative billing data.

Setting: Inpatient rehabilitation unit at a large, academic medical center.

Superstable lipid vacuoles endow cartilage with its shape and biomechanics.

Conventionally, the size, shape, and biomechanics of cartilages are determined by their voluminous extracellular matrix. By contrast, we found that multiple murine cartilages consist of lipid-filled cells called lipochondrocytes. Despite resembling adipocytes, lipochondrocytes were molecularly distinct and produced lipids exclusively through de novo lipogenesis.

FGFR2 directs inhibition of WNT signaling to regulate anterior fontanelle closure during skull development.

The calvarial bones of the infant skull are linked by transient fibrous joints known as sutures and fontanelles, which are essential for skull compression during birth and expansion during postnatal brain growth. Genetic conditions caused by pathogenic variants in FGFR2, such as Apert, Pfeiffer, and Crouzon syndromes, result in calvarial deformities due to premature suture fusion and a persistently open anterior fontanelle (AF). In this study, we investigated how Fgfr2 regulates AF closure by leveraging mouse genetics and single-cell transcriptomics.

Machine Learning for Automated Identification of Anatomical Landmarks in Ultrasound Periodontal Imaging.

Objectives: To identify landmarks in ultrasound periodontal images and automate the image-based measurements of gingival recession (iGR), gingival height (iGH), and alveolar bone level (iABL) using machine learning.

Methods: We imaged 184 teeth from 29 human subjects. The dataset included 1580 frames for training and validating the U-Net CNN machine learning model, and 250 frames from new teeth that were not used in training for testing the generalization performance.

What Are the Trends in Women's Representation Among Principal Investigators of US Clinical Trials in the Field of Genetics?

Introduction: Despite progress in the representation of women in the medical profession, substantial gender disparities persist in leadership roles, particularly in clinical trials. Clinical trials are crucial to evidence-based medicine, offering visibility, career advancement, and future funding opportunities for principal investigators (PIs). However, women remain underrepresented in these roles, especially in genetics.

Pyrimidine synthesis enzyme CTP synthetase 1 suppresses antiviral interferon induction by deamidating IRF3.

Metabolism is typically contextualized in conjunction with proliferation and growth. The roles of metabolic enzymes beyond metabolism-such as in innate immune responses-are underexplored. Using a focused short hairpin RNA (shRNA)-mediated screen, we identified CTP synthetase 1 (CTPS1), a rate-limiting enzyme of pyrimidine synthesis, as a negative regulator of interferon induction.

Lack of hospital resilience as the main challenge of hospital management during the COVID-19 pandemic: A grounded theory study.

Background: Traditional hospital management responses during the coronavirus disease 2019 (COVID-19) pandemic proved ineffective, particularly considering the pre-existing challenges in healthcare systems. The study examines hospital management challenges during the COVID-19 pandemic, transforming their lived experiences into a conceptual approach to prevent repetition and benefit health planners and policymakers in future crises and normal times.

Methods: This qualitative study utilized the grounded theory methodology, conducting in-depth interviews with 12 hospital administrators from seven major referral hospitals in Shiraz, Bushehr, and Tehran, focusing on COVID-19 patients' complex conditions.

Development and Initial Outcomes of the Interdisciplinary 'Early Identification and Intervention for Infants Network' (Ei3) in Los Angeles.

: The Early Identification and Intervention for Infants (Ei3) Network is an interdisciplinary team dedicated to improving early detection and intervention of cerebral palsy (CP) in California. This paper describes the key (1) awareness-building and (2) capacity-building strategies utilized by the Ei3 Network in the first two years. : Awareness-building methods included interactive conference discussions, resource deliverable creation, and the creation of a framework for dissemination.

Peri-Implant Bone Necrosis: Clinical Considerations and Histological Evaluation.

Peri-implant bone necrosis (PIBN) is a rare yet potentially serious phenomenon contributing to implant failure. It can be challenging to determine the exact etiology, especially when multiple intricate factors are involved. This case series reports on the successful management of PIBN during early and late implant placement and peri-implantitis-associated bone necrosis, with likely causes being bone over-compression during implant placement or a consequence of periimplantitis.

Cryptic phosphoribosylase activity of NAMPT restricts the virion incorporation of viral proteins.

As obligate intracellular pathogens, viruses activate host metabolic enzymes to supply intermediates that support progeny production. Nicotinamide phosphoribosyltransferase (NAMPT), the rate-limiting enzyme of salvage nicotinamide adenine dinucleotide (NAD) synthesis, is an interferon-inducible protein that inhibits the replication of several RNA and DNA viruses through unknown mechanisms. Here, we show that NAMPT restricts herpes simplex virus type 1 (HSV-1) replication by impeding the virion incorporation of viral proteins owing to its phosphoribosyl-hydrolase (phosphoribosylase) activity, which is independent of the role of NAMPT in NAD synthesis.

Conversion of a failing fixed implant prosthesis into an implant-retained overdenture: A clinical report.

Implants supporting a fixed prosthesis may fail leaving unfavorable implant distribution for a fixed prosthesis. This clinical report illustrates a treatment option for converting a failing fixed prosthesis into a mandibular complete overdenture by using a portion of the existing fixed implant prosthesis. The use of a resilient liner to retain a converted mandibular overdenture framework provided satisfactory results in the first year of clinical use.

Advances in Dental Restorations: A Comprehensive Review of Machinable and 3D-Printed Ceramic-Reinforced Composites.

Objective: This review aims to evaluate the current understanding and clinical applications of machinable ceramic-reinforced composites (CRCs) and the emerging first generation of 3D-printed CRCs in dental restorations.

Overview: Machinable CRCs, introduced over a decade ago, have shown moderate success in short- to medium-term clinical applications, particularly in low-stress areas. However, their long-term durability limitations, such as increased wear and marginal deterioration, restrict their use in high-stress situations and full crowns.

A 13-year review of triple jump examination at the Ostrow School of Dentistry of the University of Southern California.

Objectives: The triple jump examination (TJE) has been instituted at the Ostrow School of Dentistry of the University of Southern California (OSDUSC) since 2001 as an assessment tool of critical thinking skills for its learner-centered pedagogy. A 2013 study detailed the TJE's design, validity, and initial outcomes. The current study focused on its 13-year sustainability including a transition from in-person to hybrid TJE by assessing outcomes from the graduating Classes of 2014 through 2026.

Ultrasound identification of the cementoenamel junction and clinical correlation through ex vivo analysis.

Accurately identifying periodontal landmarks via acoustic imaging is increasingly important. Here, we evaluated the accuracy of cementoenamel junction (CEJ) identification using ultrasound by comparing it to clinical methods in 153 extracted human teeth. The distance between the CEJ to a reference point was measured using two clinical methods (visual examination and tactile sensation) as well as ultrasound imaging.

Ameloblastin binding to biomimetic models of cell membranes - A continuum of intrinsic disorder.

Objective: A 37-residue amino acid sequence corresponding to the segment encoded by exon-5 of murine ameloblastin (Ambn), AB2 (Y67-Q103), has been implicated with membrane association, ameloblastin self-assembly, and amelogenin-binding. Our aim was to characterize, at the residue level, the structural behavior of AB2 bound to chemical mimics of biological membranes using NMR spectroscopy.

Design: To better define the structure of AB2 using NMR-based methods, recombinant C- and N-labelled AB2 (*AB2) was prepared and data collected free in solution and with deuterated dodecylphosphocholine (dPC) micelles, deuterated bicelles, and both small and large unilamellar vesicles.

The impact of oral health on depression: A systematic review.

Introduction: As of 2020, about 21% of adults in the United States have a diagnosable mental health disorder, excluding substance use and developmental disorders. Depression, predicted by the WHO to be the leading cause of disease burden by 2030, is linked to various systemic conditions and has been associated with poor oral health. Both behavioral factors, like poor dental hygiene and irregular visits, and biological mechanisms, such as changes in salivary immunity, contribute to this connection, which impacts overall well-being and quality of life.

Deletion within ameloblastin multitargeting domain reduces its interaction with artificial cell membrane.

In human, mutations in the gene encoding the enamel matrix protein ameloblastin (Ambn) have been identified in cases of amelogenesis imperfecta. In mouse models, perturbations in the Ambn gene have caused loss of enamel and dramatic disruptions in enamel-making ameloblast cell function. Critical roles for Ambn in ameloblast cell signaling and polarization as well as adhesion to the nascent enamel matrix have been supported.

Viscoelastic Hydrogel Modulates Phenotype of Macrophage-Derived Multinucleated Cells and Macrophage Differentiation in Foreign Body Reactions.

Biomaterial-induced macrophage-derived multinucleated cells (MNCs) are often observed at or near material implantation sites, yet their subtypes and roles in tissue repair and wound healing remain unclear. This study compares material-induced MNCs to cytokine-induced MNCs using both in vitro and in vivo models. 3D-embedded Raw264.

Comparing Three-dimensional Radiologic Outcomes Between Early Versus Late Secondary Alveolar Bone Grafting.

Secondary alveolar bone grafting (SABG) during mixed dentition is the standard of care for patients with complete cleft of lip and palate. Early SABG (E-SABG; 4 to 7 y) occurs before the eruption of lateral incisors, whereas late SABG (L-SABG; 8 to 12 y) occurs before the eruption of maxillary permanent canines. This study compares outcomes of E-SABG versus L-SABG among patients with unilateral cleft of lip and palate (UCLP).

The effect of photobiomodulation therapy on implant stability: A systematic review and meta-analysis.

This study was designed to determine the effect of photobiomodulation therapy on dental implant stability. A complete systematic search was performed in PUBMED/MEDLINE, COCHRANE library databases, EMBASE, SCOPUS, and Google Scholar databases on articles published until June 2024. All the RCTs and CCTs reported the solo impact of photobiomodulation on dental implant stability in humans were included.

Physical Therapy Management of Congenital Muscular Torticollis: A 2024 Evidence-Based Clinical Practice Guideline From the American Physical Therapy Association Academy of Pediatric Physical Therapy.

Congenital muscular torticollis (CMT) is a postural condition evident shortly after birth. The 2013 CMT Clinical Practice Guideline (2013 CMT CPG) set standards for the identification, referral, and physical therapy management of infants with CMT, and its implementation resulted in improved clinical outcomes. It was updated in 2018 to reflect current evidence and 7 resources were developed to support implementation.