R150S mutation in the human oxytocin receptor: Gain-of-function effects and implication in autism spectrum disorder.

This study investigates the rs547238576 (R150S) missense variant in the oxytocin receptor (OXTR) gene, previously observed through screening of rare variants in Japanese individuals with autism spectrum disorders (ASD). Contrary to the anticipated loss-of-function, R150S exhibits gain-of-function effects, enhancing oxytocin (OXT) sensitivity, ligand-binding affinity, and OXT-induced Ca mobilization in vitro. This suggests R150S may alter OXT signaling, potentially contributing to the excitatory/inhibitory imbalance seen in ASD and other psychiatric disorders.

A Retrospective Review of Outcomes and Complications after Infant Ear Molding at a Single Institution.

Background: The purpose of this study was to evaluate outcomes and complications associated with infant ear molding at a single institution.

Methods: We conducted a retrospective chart review of all infants who underwent ear molding using the EarWell Infant Ear Correction System with pediatric plastic surgery from October 2010 to March 2021. Types of ear anomalies, age at initiation, duration of treatment, gaps in treatment, comorbidities, and complications were extracted for included patients.

Predictors of spine metastases at initial presentation of pediatric brain tumor patients: a single-institution study.

Purpose: Given the rarity of disseminated disease at the time of initial evaluation for pediatric brain tumor patients, we sought to identify clinical and radiographic predictors of spinal metastasis (SM) at the time of presentation.

Methods: We performed a single-institution retrospective chart review of pediatric brain tumor patients who first presented between 2004 and 2018. We extracted information regarding patient demographics, radiographic attributes, and presenting symptoms.

A Retrospective Cohort Study of Implantable Pulse Generator Surgical Site Infections After Deep Brain Stimulation Surgery With an Antibacterial Envelope.

Introduction: Deep brain stimulation (DBS) surgery is an established treatment for many patients with neurologic disease, and a common complication of DBS is surgical site infection (SSI). In 2016, neurosurgeons at our institution began enclosing implantable pulse generators (IPGs) within fully absorbable, antibacterial envelopes in patients who underwent initial DBS implantation. We sought to determine whether the use of antibacterial envelopes reduced IPG-related SSIs.

Operating Room Stencil: A Novel Mobile Application for Surgical Planning.

The techniques used to make preoperative markings before soft tissue reconstruction have remained relatively unchanged since the earliest years of plastic surgery. Using skin-marking pens, many surgeons continue to draw markings freehand as "best estimates" before their first incisions. Although efficient for the experienced surgeon, this strategy may prove challenging for residents and trainees striving to learn and maintain consistency while replicating the intricate geometries of flap markings.

Plastic Surgery and Music: Examining Plastic Surgery References in Hit Songs.

The purpose of this study was to assess the frequency by which plastic surgery-related terms have been included in the lyrics of Western music hits from the 1970s to the present day as a proxy for estimating the cultural impact of plastic surgery. A list of the songs from 1968 to 2019 and the songs from 1970 to 2019 was obtained for a combined total of 8550 songs. Lyrics for each song were extracted via a web-scraping system, and a database of plastic surgery-related terms was developed by our team.

Nerve injury and repair in a ketogenic milieu: A systematic review of traumatic injuries to the spinal cord and peripheral nervous tissue.

Dietary interventions such as intermittent fasting and the ketogenic diet have demonstrated neuroprotective effects in various models of neurological insult. However, there has been a lack of evaluation of these interventions from a surgical perspective despite their potential to augment reparative processes that occur following nerve injury. Thus, we sought to analyze the effects of these dietary regimens on nerve regeneration and repair by critical appraisal of the literature.

Management of acute corneal hydrops with intracameral gas injection.

Purpose: To report two cases of severe acute corneal hydrops that were resolved by intracameral gas injection alone.

Observations: Case 1 is a 27-year-old woman with bilateral severe keratoconus who developed sequential acute corneal hydrops in the right eye followed by the left eye that were each successfully treated using intracameral 20% sulfur hexafluoride gas injection. Case 2 is a 62-year-old man that developed a large fluid cleft beneath a pre-existing LASIK flap, which resolved with intracameral 20% sulfur hexafluoride gas injection without the need for corneal transplantation.

Normative data of a smartphone app-based 6-minute walking test, test-retest reliability, and content validity with patient-reported outcome measures.

Objective: The 6-minute walking test (6WT) is used to determine restrictions in a subject's 6-minute walking distance (6WD) due to lumbar degenerative disc disease. To facilitate simple and convenient patient self-measurement, a free and reliable smartphone app using Global Positioning System coordinates was previously designed. The authors aimed to determine normative values for app-based 6WD measurements.

Assessing and addressing footwear needs in Parkinson's disease-design thinking in neurology.

Background: Parkinson's disease (PD) is a neurodegenerative movement disorder that results in a variety of motor deficits such as unsteady gait, bradykinesia, resting tremor, and rigidity.

Objective: The objective of this study was to quantify and assess the challenges and preferences Parkinson's disease patients have regarding footwear.

Methods: A 13-question survey was designed to assess footwear challenges and preferences among PD patients.

The Molecular Pathogenesis of Dupuytren Disease: Review of the Literature and Suggested New Approaches to Treatment.

Background: Ever since the classification of Dupuytren disease into the proliferative, involutional, and residual stages, extensive research has been performed to uncover the molecular underpinnings of the disease and develop better treatment modalities for patients. The aim of this article is to systematically review the basic science literature pertaining to Dupuytren disease and suggest a new approach to treatment.

Methods: Following Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines, a systematic review was conducted using the MEDLINE database to identify basic science literature on Dupuytren pathophysiology falling under 1 or more of the following categories: (1) Molecular alterations, (2) Structural alterations, and (3) Genetic predisposition.

The New Frontier: A Review of Augmented Reality and Virtual Reality in Plastic Surgery.

Mixed reality, a blending of the physical and digital worlds, can enhance the surgical experience, leading to greater precision, efficiency, and improved outcomes. Various studies across different disciplines have reported encouraging results using mixed reality technologies, such as augmented and virtual reality. To provide a better understanding of the applications and limitations of this technology in plastic surgery, we performed a systematic review of the literature in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.

Sequence features associated with the cleavage efficiency of CRISPR/Cas9 system.

The CRISPR-Cas9 system has recently emerged as a versatile tool for biological and medical research. In this system, a single guide RNA (sgRNA) directs the endonuclease Cas9 to a targeted DNA sequence for site-specific manipulation. In addition to this targeting function, the sgRNA has also been shown to play a role in activating the endonuclease activity of Cas9.