Foxg1 gene mutation impairs auditory cortex response and reduces sound tolerance.

FOXG1 syndrome (FS) is a rare and devastating neurodevelopmental disorder affected by FOXG1 gene mutations and reduced sound tolerance has been reported in children with FS. Effects of single missense mutation of Foxg1 gene on auditory function and behavior were studied using the G216S mouse model. G216S mice showed significantly reduced gap-induced prepulse inhibition, suggesting poor temporal processing without hearing loss.

The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.

Single allelic mutations in the FOXG1 gene lead to FOXG1 syndrome (FS). To understand the pathophysiology of FS, which vary depending on FOXG1 mutation types, patient-specific animal models are critical. Here, we report a patient-specific Q84Pfs heterozygous (Q84Pfs-Het) mouse model, which recapitulates various FS phenotypes across cellular, brain structural, and behavioral levels.

Postoperative acute kidney injury and risk factors for major adverse kidney events within 30 days of burn surgery.

Background: Burn injuries can lead to severe complications across multiple organ systems, with kidney impairment being particularly common and clinically significant. Major adverse kidney events within 30 days post-surgery (MAKE30)-including death, initiation of new renal replacement therapy, or prolonged renal dysfunction-are increasingly used in clinical research to assess mid-term renal outcomes. However, studies on the incidence and risk factors of MAKE30 in burn patients remain limited.

MLL4 regulates postnatal palate growth and midpalatal suture development.

MLL4, also known as KMT2D, is a histone methyltransferase that acts as an important epigenetic regulator in various organogenesis programs. Mutations in the gene are the major cause of Kabuki syndrome, a human developmental disorder that involves craniofacial birth defects, including anomalies in the palate. This study aimed to investigate the role of MLL4 and the underlying mechanisms in the development and growth of the palate.

The patient-specific mouse model with frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.

Single allelic mutations in the forebrain-specific transcription factor gene lead to FOXG1 syndrome (FS). To decipher the disease mechanisms of FS, which vary depending on FOXG1 mutation types, patient-specific animal models are critical. Here, we report the first patient-specific FS mouse model, heterozygous (Q84Pfs-Het) mice, which emulates one of the most predominant FS variants.

KMT2D regulates tooth enamel development.

Amelogenesis, the process of enamel formation, is tightly regulated and essential for producing the tooth enamel that protects teeth from decay and wear. Disruptions in amelogenesis can result in amelogenesis imperfecta, a group of genetic conditions characterized by defective enamel, including enamel hypoplasia, marked by thin or underdeveloped enamel. Mutations in the () gene, which encodes a histone H3-lysine 4-methyltransferase, are associated with Kabuki syndrome, a developmental disorder that can involve dental anomalies such as enamel hypoplasia.

MLL4 regulates postnatal palate growth and midpalatal suture development.

MLL4, also known as KMT2D, is a histone methyltransferase that acts as an important epigenetic regulator in various organogenesis programs. Mutations in the gene are the major cause of Kabuki syndrome, a human developmental disorder that involves craniofacial birth defects, including anomalies in the palate. This study aimed to investigate the role of MLL4 and the underlying mechanisms in the development and growth of the palate.

The postnatal injection of AAV9-FOXG1 rescues corpus callosum agenesis and other brain deficits in the mouse model of FOXG1 syndrome.

Heterozygous mutations in the gene manifest as FOXG1 syndrome, a severe neurodevelopmental disorder characterized by structural brain anomalies, including agenesis of the corpus callosum, hippocampal reduction, and myelination delays. Despite the well-defined genetic basis of FOXG1 syndrome, therapeutic interventions targeting the underlying cause of the disorder are nonexistent. In this study, we explore the therapeutic potential of adeno-associated virus 9 (AAV9)-mediated delivery of the gene.

Lhx4 surpasses its paralog Lhx3 in promoting the differentiation of spinal V2a interneurons.

Paralog factors are considered to ensure the robustness of biological processes by providing redundant activity in cells where they are co-expressed. However, the specific contribution of each factor is frequently underestimated. In the developing spinal cord, multiple families of transcription factors successively contribute to differentiate an initially homogenous population of neural progenitors into a myriad of neuronal subsets with distinct molecular, morphological, and functional characteristics.

Upregulation of EMR1 (ADGRE1) by Tumor-Associated Macrophages Promotes Colon Cancer Progression by Activating the JAK2/STAT1,3 Signaling Pathway in Tumor Cells.

Previously, we reported that epidermal growth factor-like module-containing mucin-like hormone receptor-like 1 (EMR1/ADGRE1) is abnormally expressed in colon cancer (CC) and is a risk factor for lymph node metastasis (LNM) and poor recurrence-free survival in patients with abundant tumor-associated macrophages (TAMs). However, the signaling pathways associated with EMR1 expression in CC progression remain unclear. In this study, we aimed to explore the role of EMR1 and its signaling interactions with macrophages in CC progression.

Effect of sugammadex on postoperative complications in patients with severe burn who underwent surgery: a retrospective study.

This retrospective study investigated the association of sugammadex with postoperative pulmonary complication risk between 2013 and 2021 in patients with severe burn of five hospitals. Postoperative pulmonary complications included atelectasis, pulmonary edema, pulmonary effusion, pneumothorax, pneumonia, pulmonary thromboembolism, respiratory failure and acute respiratory distress. To identify whether sugammadex reduced the risk of postoperative pulmonary complication in patients with severe burn who underwent surgery, Kaplan-Meier curve were used to check the difference of incidence according to surgical cases and time-varying Cox hazard regression were used to calculate the hazard ratio.

Efficacy, Safety, and Subject Satisfaction of PrabotulinumtoxinA for Moderate-to-Severe Crow's Feet: A Phase IV, Multicenter, Double-Blind, Randomized, Placebo-Controlled Trial.

PrabotulinumtoxinA has been identified as an effective agent against crow's feet. Our study, which included Korean patients with moderate to severe crow's feet, was undertaken to compare the efficacy and safety of PrabotulinumtoxinA and placebo treatments. Of the 90 study participants, 60 received prabotulinumtoxinA (24 U), whereas 30 received a placebo.

Association of age-related hearing loss, tinnitus, and chronic low back pain in middle-aged and older Korean adults.

This was a cross-sectional study conducted to evaluate the association between hearing impairment and low back pain (LBP) using data from the Korean National Health and Nutrition Examination Survey. A total of 5,504 middle-aged and older Korean adults (aged ≥50 years old) who underwent plain radiography of the lumbar spine and pure tone audiometry were included. The presence of LBP was evaluated using a questionnaire, which included a question on whether the patient had experienced LBP that lasted for more than 30 days during the past three months.

Effect of a Wearable Device-Based Physical Activity Intervention in North Korean Refugees: Pilot Randomized Controlled Trial.

Background: Effective health interventions for North Korean refugees vulnerable to metabolic disorders are currently unelucidated.

Objective: This study aimed to evaluate the effects of digital health interventions in North Korean refugees using a wearable activity tracker (Fitbit device).

Methods: We conducted a prospective, randomized, open-label study on North Korean refugees aged 19-59 years between June 2020 and October 2021 with a 12-week follow-up period.

The patient-specific mouse model with Foxg1 frameshift mutation uncovers the pathophysiology of FOXG1 syndrome.

Single allelic mutations in the gene encoding the forebrain-specific transcription factor FOXG1 lead to FOXG1 syndrome (FS). Patient-specific animal models are needed to understand the etiology of FS, as FS patients show a wide spectrum of symptoms correlated with location and mutation type in the FOXG1 gene. Here we report the first patient-specific FS mouse model, Q84Pfs heterozygous (Q84Pfs-Het) mice, mimicking one of the most predominant single nucleotide variants in FS.

Comparison of the McGRATH Video Laryngoscope and Macintosh Laryngoscope for Orotracheal Intubation in a Simulated Difficult Airway Scenario: An Open-Label, Randomized Clinical Trial.

: Difficult intubation, which may be encountered unexpectedly during anesthesia, can increase patients' morbidity and mortality. The McGRATH video laryngoscope is known to provide improved laryngeal visibility in patients with difficult or normal airways. The purpose of this study was to evaluate the efficacy of the McGRATH video laryngoscope for orotracheal intubation compared with that of conventional Macintosh laryngoscopes in simulated difficult airway scenarios.

Initial Development of User-Based Quality Evaluation Questionnaire of Smartwatch Technology for Applying to Healthcare.

Background: Smartwatches are a consumer wearable device offering a potential, practical, and affordable method to collect personal health data in healthy adults. For patients with chronic diseases, this would enable symptom monitoring and aid clinical decision making. Therefore, providing customized checklists to recommend smartwatches is beneficial.