Implementation of and Testing in Patients With GI Cancer: A Prospective, Nonrandomized Clinical Trial.

Purpose: To determine the feasibility and effectiveness of implementing pretreatment testing in patients with gastrointestinal cancer and its impact compared with a biobank population.

Materials And Methods: A prospective, nonrandomized implementation trial of pretreatment testing with preemptive dose reduction was conducted in patients initiating treatment with a fluoropyrimidine (FP, [fluorouracil or capecitabine]) or irinotecan. The primary end point was feasibility, defined as proportion of results available prior to cycle 1 of treatment.

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.

Disease-causing variants in synaptic function genes are a common cause of neurodevelopmental disorders (NDDs) and epilepsy. Here, we describe 14 individuals with de novo disruptive variants in BSN, which encodes the presynaptic protein Bassoon. To expand the phenotypic spectrum, we identified 15 additional individuals with protein-truncating variants (PTVs) from large biobanks.

Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis.

Atopic dermatitis is a highly heritable and common inflammatory skin condition affecting children and adults worldwide. Multi-ancestry approaches to atopic dermatitis genetic association studies are poised to boost power to detect genetic signal and identify loci contributing to atopic dermatitis risk. Here, we present a multi-ancestry GWAS meta-analysis of twelve atopic dermatitis cohorts from five ancestral populations totaling 56,146 cases and 602,280 controls.

Variants in , encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.

Disease-causing variants in synaptic function genes are a common cause of neurodevelopmental disorders and epilepsy. Here, we describe 14 individuals with disruptive variants in , which encodes the presynaptic protein Bassoon. To expand the phenotypic spectrum, we identified 15 additional individuals with protein-truncating variants (PTVs) from large biobanks.

A Systematic Review of Virtual Subinternships in Surgical Education: Impact on Curriculum Delivery and Learner Outcomes.

The COVID-19 pandemic forced an abrupt reevaluation of traditional subinternship models in surgical education, with the adoption of virtual subinternships (VSIs) emerging as a prominent response. This review assesses VSIs as a cost-effective, equitable alternative, especially as virtual education continues since the end of the Federal COVID-19 Public Health Emergency and may be crucial in future crises. Our research question asks how curriculum delivery, learner outcomes, and interpretation of program fit occur within the VSI model.

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.

Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis.

A Repair Technique for Internal Nasal Valve Collapse Using Lateral Nasal Suspension Sutures.

One of the most common reasons a patient would see an otolaryngologist is for nasal obstruction. This article provides an overview of the physical principles related to nasal airflow as well as the critical role that the internal nasal valve plays in regulating airflow resistance. Common treatment options for internal nasal valve obstruction are discussed as well as an in-depth tutorial on an alternate lateral nasal suspension suture technique for internal nasal valve collapse.

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

Purpose: Hardikar syndrome (HS, MIM #301068) is a female-specific multiple congenital anomaly syndrome characterized by retinopathy, orofacial clefting, aortic coarctation, biliary dysgenesis, genitourinary malformations, and intestinal malrotation. We previously showed that heterozygous nonsense and frameshift variants in MED12 cause HS. The phenotypic spectrum of disease and the mechanism by which MED12 variants cause disease is unknown.

Impact of Applicant Signaling for Otolaryngology Interviews.

Objective: To assess applicant opinions regarding program signaling and to understand the effect of 25 signals on interview outcomes during the 2023-2024 otolaryngology residency cycle.

Methods: A 36-item anonymous online survey regarding signaling was sent to applicants who had applied to an otolaryngology residency program at a single institution. Participant demographics, performance in medical school, number of interviews received in relation to signals sent, and applicant perceptions regarding preference signaling were assessed.

Multi-ancestry Genome-Wide Association Meta-Analysis Identifies Novel Loci in Atopic Dermatitis.

Atopic dermatitis (AD) is a highly heritable and common inflammatory skin condition affecting children and adults worldwide. Multi-ancestry approaches to AD genetic association studies are poised to boost power to detect genetic signal and identify ancestry-specific loci contributing to AD risk. Here, we present a multi-ancestry GWAS meta-analysis of twelve AD cohorts from five ancestral populations totaling 56,146 cases and 602,280 controls.

Nuclear Factor-κB Decoy Oligodeoxynucleotide Attenuates Cartilage Resorption In Vitro.

Background: Cartilage harvest and transplantation is a common surgery using costal, auricular, and septal cartilage for craniofacial reconstruction. However, absorption and warping of the cartilage grafts can occur due to inflammatory factors associated with wound healing. Transcription factor nuclear factor-κB (NF-κB) is activated by the various stimulation such as interleukin-1 (IL-1), and plays a central role in the transactivation of this inflammatory cytokine gene.

High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations.

Background: Patients with birth defects (BD) exhibit an elevated risk of cancer. We aimed to investigate the potential link between pediatric cancers and BDs, exploring the hypothesis of shared genetic defects contributing to the coexistence of these conditions.

Methods: This study included 1454 probands with BDs (704 females and 750 males), including 619 (42.

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.

Purpose: RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya disease. Case reports have also implicated specific variants in RNF213 with an early-onset form of moyamoya disease with full penetrance. We aimed to expand the phenotypic spectrum of monogenic RNF213-related disease and to evaluate genotype-phenotype correlations.

Simulation-based workshop for emergency preparedness in otolaryngology.

Objectives: This study aimed to evaluate the outcomes of a hands-on simulation-based course with emphasis on procedural techniques, clinical reasoning, and communication skills developed to improve junior Otolaryngology - Head and Neck Surgery (OHNS) residents' preparedness in managing otolaryngologic emergencies.

Methods: Junior OHNS residents and faculty from residency programs in California, Nevada, and Arizona participated in this workshop in 2020 and 2021. The stations featured airway management techniques, ultrasound-guided needle aspiration, nasoseptal hematoma evacuation, and facial fracture repair using various models and cadavers.

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.

Children with birth defects (BD) express distinct clinical features that often have various medical consequences, one of which is predisposition to the development of cancers. Identification of the underlying genetic mechanisms related to the development of cancer in BD patients would allow for preventive measures. We performed a whole genome sequencing (WGS) study on blood-derived DNA samples from 1566 individuals without chromosomal anomalies, including 454 BD probands with at least one type of malignant tumors, 767 cancer-free BD probands, and 345 healthy individuals.

Aging reduces manual dexterity and force production asymmetries between the hands.

Age-related effects on motor asymmetry provide insight into changes in cortical activation during aging. To investigate potential changes in manual performance associated with aging, we conducted the Jamar hand function test and the Purdue Pegboard test on young and older adults. All tests indicated reduced motor asymmetry in the older group.

Wound healing in the vulnerable: A novel case of postauricular wounds caused by mask ties.

Background: The COVID-19 pandemic has made facial masks an essential part of daily life. While protective facial masks are crucial to help the spread of viral infections, they are common causes of facial skin breakdown, acne, and superficial injuries. Masks with elastic ear loops are also particularly likely to cause ear pressure injuries.

Reducing Surgical Risks in the Rhinoplasty Patient.

Reducing complications after rhinoplasty is critical to ensuring optimal functional, aesthetic, and patient satisfaction outcomes. Many of the most frequent complications of rhinoplasty are technical in nature and can be prevented with meticulous attention to detail and preservation of critical nasal support structures. In this article, the authors review many of the common pitfalls of rhinoplasty and discuss preventative measures that can be used by the competent rhinoplasty surgeon.

Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing.

Background: Children with birth defects (BD) are more likely to develop cancer and the increased risk of cancer persists into adulthood. Prior population-based assessments have demonstrated that even non-chromosomal BDs are associated with at least two-fold increase of cancer risk. Identification of variants that are associated with malignant tumor in BD patients without chromosomal anomalies may improve our understanding of the underlying molecular mechanisms and provide clues for early cancer detection in children with BD.