The Fate of the DAIR, Outcomes After One Year: a large database study.

Debridement with antibiotics and implant retention (DAIR) is commonly utilized for prosthetic joint infection (PJI) for total knee arthroplasty (TKA); particularly in cases of acute PJI 1. Reported success rates of DAIR have been highly variable, but the overall success rate of DAIR cohort studies is ~70-80% 2. However, no large database studies have investigated the success rate of DAIR.

Non-Opioid Analgesia Protocols After Total Hip Arthroplasty and Total Knee Arthroplasty: An Updated Scoping Review and Meta-Analysis.

Background: Despite their effectiveness in postoperative analgesia regimens for total knee arthroplasty (TKA) and total hip arthroplasty (THA), opioid medications are accompanied by well-known side effects and a risk of long-term dependence. These drawbacks have prompted the exploration of opioid-free analgesia protocols. The purpose of this study was to summarize the nature and extent of evidence available on opioid-free analgesia protocols in THA and TKA management.

The learning curve for robotic-assisted total hip arthroplasty in low, medium, and high-volume surgeons.

Background: Robotic systems have been designed to increase the accuracy of implant alignment in total knee and hip arthroplasty. This technology is associated with a learning curve for the operative time to reach peak efficiency in its use. Prior studies done on high-volume orthopedic surgeons have suggested a learning curve of 14-35 cases for robotic-assisted total hip arthroplasty (THA).

Do social media use and patient satisfaction scores correlate with online award recognition among hip and knee arthroplasty specialists?

Introduction: The physician-patient interaction now begins before patients arrive in the office. Online ratings, social media profiles, and online award status are all components of physician online reputation which contributes to the patient's initial impressions. Therefore, it is important to understand the interplay of these factors and determine if there is a consistent trend indicating the value of this information.

The Relative Importance of Factors That Applicants Weigh When Ranking Adult Reconstruction Fellowships as Well as Their Perspectives on Robotic-Assisted Arthroplasty.

Background: Orthopedic Surgery Fellowship programs offer highly specialized training that varies based on the training environment and surgical experience. Additionally, for Adult Reconstruction programs, robotic-assisted surgery exposure has been a widely discussed topic. The purpose of this study was to determine the relative value of various factors to Adult Hip and Knee Fellowship applicants, and their perceptions of robotic-assisted arthroplasty.

Product warranties by orthopaedic surgery companies. Quality control or a new fad?

Introduction: Product guarantees are known to the manufacturing industry, however warranties have been rare in Orthopaedic surgery. Over the last 10 years, select manufacturers of implants have instituted warranties of varying scope, length, and reimbursement. This phenomenon prompted us to investigate the landscape of warranties in Orthopaedics and compare that to other medical industries to better inform their impact on patient care.

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

Purpose: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical Genome Resource Intellectual Disability/Autism Gene Curation Expert Panel (GCEP) uses systematic curation to distinguish ID/ASD genes that are appropriate for clinical testing (ie, with substantial evidence supporting their relationship to disease) from those that are not.

Methods: Using the Clinical Genome Resource gene-disease validity curation framework, the ID/Autism GCEP classified genes frequently included on clinical ID/ASD testing panels as Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Known Disease Relationship.

TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.

To identify and report novel variants in the gene and their clinical manifestations related to hearing loss as well as intervention outcomes. This information will be helpful for genetic counseling and treatment planning for these patients. Literature review of previously reported variants was conducted.

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Purpose: The ClinGen Variant Curation Expert Panels (VCEPs) provide disease-specific rules for accurate variant interpretation. Using the hearing loss-specific American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines, the Hearing Loss VCEP (HL VCEP) illustrates the utility of expert specifications in variant interpretation.

Methods: A total of 157 variants across nine HL genes, previously submitted to ClinVar, were curated by the HL VCEP.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Purpose: Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.

Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

Purpose: Proper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental prerequisite to accurate variant interpretation is the clear understanding of the clinical validity of gene-disease relationships. The Clinical Genome Resource (ClinGen) has developed a semiquantitative framework to assign clinical validity to gene-disease relationships.

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, the standardization of variant interpretation is crucial to provide consistent and accurate diagnoses. The Hearing Loss Variant Curation Expert Panel was created within the Clinical Genome Resource to provide expert guidance for standardized genomic interpretation in the context of HL.

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.

The RASopathies are a complex group of conditions regarding phenotype and genetic etiology. The ClinGen RASopathy Expert Panel (RAS EP) assessed published and other publicly available evidence supporting the association of 19 genes with RASopathy conditions. Using the semiquantitative literature curation method developed by the ClinGen Gene Curation Working Group, evidence for each gene was curated and scored for Noonan syndrome (NS), Costello syndrome, cardiofaciocutaneous syndrome, NS with multiple lentigines, and Noonan-like syndrome with loose anagen hair.

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.

The field of epilepsy genetics is advancing rapidly and epilepsy is emerging as a frequent indication for diagnostic genetic testing. Within the larger ClinGen framework, the ClinGen Epilepsy Gene Curation Expert Panel is tasked with connecting two increasingly separate fields: the domain of traditional clinical epileptology, with its own established language and classification criteria, and the rapidly evolving area of diagnostic genetic testing that adheres to formal criteria for gene and variant curation. We identify critical components unique to the epilepsy gene curation effort, including: (a) precise phenotype definitions within existing disease and phenotype ontologies; (b) consideration of when epilepsy should be curated as a distinct disease entity; (c) strategies for gene selection; and (d) emerging rules for evaluating functional models for seizure disorders.

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

Variant interpretation depends on accurate annotations using biologically relevant transcripts. We have developed a systematic strategy for designating primary transcripts and have applied it to 109 hearing loss-associated genes that were divided into three categories. Category 1 genes (n = 38) had a single transcript; category 2 genes (n = 33) had multiple transcripts, but a single transcript was sufficient to represent all exons; and category 3 genes (n = 38) had multiple transcripts with unique exons.

Reclassification of the p.Ile208Val variant by case-level data sharing.

The ClinVar database is a useful tool for patients and physicians to view variant interpretations submitted by clinical and nonclinical labs. However, variants of uncertain significance (VUS) in ClinVar can pose a significant burden on patients. If possible, it is important to resolve discrepancies and uncertainties surrounding interpreted variants.