Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing.

Myotonic dystrophy type 1 (DM1) is a serious multisystem disorder caused by GCA repeat expansions in the DMPK gene. Early and accurate diagnosis, often requiring reliable DNA-diagnostic techniques, is critical for preventing life-threatening cardiac complications. Clinically, two main diagnostic challenges exist.

Bilateral Hemi-Hamate Autograft for Two Proximal Interphalangeal Joint Fracture Dislocations: A Case Report.

A 27-year-old man sustained right ring and little finger proximal interphalangeal joint fracture dislocations. He subsequently underwent bilateral hemi-hamate autograft to treat these intra-articular injuries. The patient was followed periodically and demonstrated return of normal grip strength and radiographic union of the hemi-hamate reconstruction arthroplasties.

Biomechanical Comparison of Surgical Steel Wiring and Suture Tape Tension Band Techniques for Arthrodesis of the Metacarpophalangeal and Proximal Interphalangeal Joint.

Purpose: The purpose of this study was to evaluate the biomechanical properties of SutureTape as an alternative technique for arthrodesis of the metacarpophalangeal (MCP) and proximal interphalangeal (PIP) joint arthrodesis when compared with surgical steel wire.

Methods: A total of 32 fingers (index, long, ring, and small) from two matched pair cadaveric hands were used. K-wire and surgical steel wire were used for MCP and PIP joint arthrodesis of the control group (group I), whereas K-wire and SutureTape were used for the experimental group (group II).

AAOS 2024 best paper in the shoulder and elbow classification: watchful waiting provides higher value with similar functional outcomes to physical therapy for frozen shoulder: a prospective randomized controlled trial.

Background: Physical therapy remains a ubiquitous treatment modality for the management of frozen shoulder (adhesive capsulitis) despite limited high-level evidence supporting its use. Leveraging patient-reported outcome measures (PROMs) and healthcare costs, this study compared patient outcomes and value achieved through watchful waiting (WW) vs. physical therapy (PT) for conservative management of frozen shoulder.

Hip Arthroscopy Versus Physical Therapy for the Treatment of Symptomatic Acetabular Labral Tears in Patients Older Than 40 Years: 24-Month Results From a Randomized Controlled Trial.

Background: The indications for hip arthroscopy in patients aged ≥40 years remain controversial, as observational studies have suggested that advanced age portends poor functional outcomes, poor durability of improvement, and high rates of conversion to total hip arthroplasty.

Purpose: To compare hip arthroscopy versus nonoperative management for symptomatic labral tears in patients aged ≥40 years with limited radiographic osteoarthritis.

Study Design: Randomized controlled trial; Level of evidence, 1.

Biceps tenotomy vs. tenodesis in patients undergoing transtendinous repair of partial thickness rotator cuff tears.

Background: Patients with partial thickness rotator cuff tears (PTRCTs) often present with concurrent pathology of the long head of the biceps tendon (LHBT). To address both conditions simultaneously, long head of the biceps (LHB) tenotomy or tenodesis can be performed at the time of arthroscopic rotator cuff repair (RCR). This study aims to compare postoperative shoulder active range of motion (AROM) and complications following transtendinous RCR with concurrent LHB tenodesis or tenotomy.

Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations.

Large-scale copy number variants (CNVs) are structural alterations in the genome that involve the duplication or deletion of DNA segments, contributing to genetic diversity and playing a crucial role in the evolution and development of various diseases and disorders, as they can lead to the dosage imbalance of one or more genes. Massively parallel sequencing (MPS) has revolutionized the field of genetic analysis and contributed significantly to routine clinical diagnosis and screening. It offers a precise method for detecting CNVs with exceptional accuracy.

Association Between Chondrolabral Junction Breakdown and Conversion to Total Hip Arthroplasty After Hip Arthroscopy for Symptomatic Labral Tears: Minimum 8-Year Follow-up.

Background: Arthroscopic treatment of femoroacetabular impingement (FAI) and symptomatic labral tears confers short- to midterm benefits, yet further long-term evidence is needed. Moreover, despite the physiological and biomechanical significance of the chondrolabral junction (CLJ), the clinical implications of damage to this transition zone remain understudied.

Purpose: To (1) report minimum 8-year survivorship and patient-reported outcome measures after hip arthroscopy for FAI and (2) characterize associations between outcomes and patient characteristics (age, body mass index, sex), pathological parameters (Tönnis angle, alpha angle, type of FAI, CLJ breakdown), and procedures performed (labral management, FAI treatment, microfracture).

Insights into non-informative results from non-invasive prenatal screening through gestational age, maternal BMI, and age analyses.

The discovery of cell-free fetal DNA fragments in the maternal plasma initiated a novel testing method in prenatal care, called non-invasive prenatal screening (NIPS). One of the limitations of NIPS is the necessity for a sufficient proportion of fetal fragments in the analyzed circulating DNA mixture (fetal fraction), otherwise, the sample is uninterpretable. We present the effect of gestational age, maternal body mass index (BMI), and maternal age on the fetal fraction (FF) of the sample.

Is ChatGPT a trusted source of information for total hip and knee arthroplasty patients?

Aims: While internet search engines have been the primary information source for patients' questions, artificial intelligence large language models like ChatGPT are trending towards becoming the new primary source. The purpose of this study was to determine if ChatGPT can answer patient questions about total hip (THA) and knee arthroplasty (TKA) with consistent accuracy, comprehensiveness, and easy readability.

Methods: We posed the 20 most Google-searched questions about THA and TKA, plus ten additional postoperative questions, to ChatGPT.

Harvest and Application of Bone Marrow Aspirate Concentrate to Address Acetabular Chondral Damage During Hip Arthroscopy.

Background: During hip arthroscopy, managing concomitant cartilage damage and chondrolabral junction breakdown remains an ongoing challenge for orthopaedic surgeons, as previous studies have associated such lesions with inferior postoperative outcomes. Although higher-level studies are needed to fully elucidate the benefits, recent literature has provided supporting preliminary evidence for the utilization of bone marrow aspirate concentrate (BMAC) in patients with moderate cartilage damage and full-thickness chondral flaps undergoing acetabular labral repair. Thus, as the incorporation of orthobiologics continues to advance, there is a clinical demand for an efficient and reliable BMAC-harvesting technique that utilizes an anatomical location with a substantial concentration of connective tissue progenitor (CTP) cells, while avoiding donor-site morbidity and minimizing additional operative time.

Do preoperative scapular fractures affect long-term outcomes after reverse shoulder arthroplasty?

Background: Postoperative scapular stress fractures (SSFs) are a formidable problem after reverse shoulder arthroplasty (RSA). Less is known about patients who have these fractures preoperatively. The primary aim of this study was to examine postoperative satisfaction in patients undergoing primary RSA who have preoperative SSF and compared to a matched cohort without preoperative fracture.

Operative Fixation of a Humeral Shaft Periprosthetic Fracture After IlluminOss: A Case Report.

Case: An 82-year-old man sustained a periprosthetic fracture after IlluminOss photodynamic bone stabilization system (PBSS) stabilization for an impending pathologic fracture. Nonoperative management was unsuccessful, and he subsequently underwent operative fixation, which featured lag screw fixation of the spiral distal humeral shaft fracture and osteotomy followed by plate fixation of the pathologic humeral shaft fracture.

Conclusion: This is the first article to report this complication with IlluminOss PBSS stabilization and details regarding revision surgery.

Preoperative Paralabral Cysts Predict More Significant Chondral Damage but Not 2-Year Functional Outcomes Following Arthroscopic Labral Repair.

Purpose: To investigate whether paralabral cysts identified incidentally on preoperative magnetic resonance imaging/arthrography predict 2-year functional outcomes after arthroscopic acetabular labral repair.

Methods: Prospectively collected data for patients undergoing primary hip arthroscopy by a single surgeon from 2014 to 2020 were retrospectively reviewed. Included patients were ≥18 years and completed baseline patient-reported outcome measures (PROMs) with additional follow-up at 3, 6, 12, and 24 months.

Labral Reconstruction via Capsular Augmentation Maintains Perfusion to the Acetabular Labrum and Locally Transferred Autograft: An in Vivo Laser Doppler Flowmetry Analysis.

Background: The purpose of the present study was to examine the effects of arthroscopic labral repair with capsular augmentation on blood flow in vivo with use of laser Doppler flowmetry (LDF) to measure microvascular perfusion of the labrum and autograft tissue.

Methods: The present prospective case series included patients ≥18 years old who underwent arthroscopic acetabular labral repair with capsular augmentation; all procedures were performed by a single surgeon between 2018 and 2022. The LDF probe measured microvascular blood flow flux within 1 mm of the surrounding labral and capsular tissue of interest.

Outcomes of Hip Arthroscopy in the Setting of Concomitant Symptomatic Lumbosacral Spine Pathology: A Matched Control Study With Minimum 24-Month Follow-up.

Background: The overlapping biomechanical relationship between the lumbosacral spine and pelvis poses unique challenges to patients with concomitant pathologies limiting spinopelvic range of motion.

Purpose: To assess the influence of concomitant, symptomatic lumbosacral spine pathology on patient-reported outcome measures (PROMs) after hip arthroscopy for the treatment of femoroacetabular impingement (FAI) and symptomatic labral tears.

Study Design: Cohort study; Level of evidence, 3.

SnakeLines: integrated set of computational pipelines for sequencing reads.

With the rapid growth of massively parallel sequencing technologies, still more laboratories are utilising sequenced DNA fragments for genomic analyses. Interpretation of sequencing data is, however, strongly dependent on bioinformatics processing, which is often too demanding for clinicians and researchers without a computational background. Another problem represents the reproducibility of computational analyses across separated computational centres with inconsistent versions of installed libraries and bioinformatics tools.

Using a Combined All-Inside, Inside-Out, and Outside-In Technique to Repair Bucket-Handle Medial Meniscal Tears Without a Safety Incision.

We describe a combined all-inside, inside-out, and outside-in technique for the repair of unstable bucket-handle medial meniscal tears. Notably, a greater incidence of neurovascular complications has been associated with meniscal repair techniques that employ an accessory skin incision, especially when damage involves the body of the medial meniscus. However, with the operative knee in relative extension, passing inside-out needles anteromedial to the posterior horn and posterior to the semitendinosus tendon and saphenous nerve allows for the needles to exit the posteromedial knee through a "safe zone.

Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations.

Clinical interpretation of copy number variants (CNVs) is a complex process that requires skilled clinical professionals. General recommendations have been recently released to guide the CNV interpretation based on predefined criteria to uniform the decision process. Several semiautomatic computational methods have been proposed to recommend appropriate choices, relieving clinicians of tedious searching in vast genomic databases.

Racial disparities in arthroscopic rotator cuff repair: an analysis of utilization and perioperative outcomes.

Background: There remains a paucity of literature addressing racial disparities in utilization and perioperative metrics in arthroscopic rotator cuff repair procedures.

Methods: The American College of Surgeons National Surgical Quality Improvement Program database was used to evaluate patients undergoing arthroscopic rotator cuff repair from 2010 to 2019. Baseline demographics, utilization trends, and perioperative measures, including adverse events, operative time, length of hospital stay, days from operation to discharge, and readmission, were analyzed.

Puncture Capsulotomy Technique for Hip Arthroscopy: Midterm Functional Outcomes.

Background: The most common surgical approaches in hip arthroscopy are interportal and T-capsulotomy. However, these methods may introduce capsular instability. Puncture capsulotomy preserves capsuloligamentous integrity by avoiding iatrogenic transection of the iliofemoral capsular ligament.

Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?

Non-invasive prenatal testing (NIPT) has become a routine practice in screening for common aneuploidies of chromosomes 21, 18, and 13 and gonosomes X and Y in fetuses worldwide since 2015 and has even expanded to include smaller subchromosomal events. In fact, the fetal fraction represents only a small proportion of cell-free DNA on a predominant background of maternal DNA. Unlike fetal findings that have to be confirmed using invasive testing, it has been well documented that NIPT provides information on maternal mosaicism, occult malignancies, and hidden health conditions due to copy number variations (CNVs) with diagnostic resolution.