Uğur Yüzügüldü, Enes Keleş, Harun Yasin Tüzün
et al.
Abstract Background This study aims to comprehensively examine the distal femoral valgus cut angle (VCA) utilized during total knee arthroplasty (TKA) in the Turkish population and identify the radiological and demographic factors influencing this critical surgical parameter. Methods A retrospective analysis was performed on 193 lower extremity orthoradiographs from 120 patients diagnosed with end-stage knee osteoarthritis between January 2020 and December 2023. Key radiological variables assessed included VCA, mechanical femorotibial angle (MTFA), neck-shaft angle (NSA), medial offset (MO), and lateral distal femoral angle (LDFA). Results The mean VCA was 6.48 ± 0.83 degrees, with no statistically significant differences observed between genders (p = 0.755). A moderate negative correlation was identified between VCA and NSA (r = − 0.423, p < 0.001), while weak to moderate positive correlations were observed between VCA and both MO (r = 0.337, p < 0.001) and LDFA (r = 0.307, p = 0.002). No significant associations were found between VCA and the other evaluated parameters. Conclusions The results highlight the necessity of personalized assessment of VCA during TKA to optimize radiological outcomes, as opposed to a standardized approach. In the Turkish population, VCA is primarily influenced by NSA, MO, and LDFA, with coronal plane deformities showing no significant effect. This study emphasizes the importance of considering patient-specific anatomical variations during preoperative planning.
Orthopedic surgery, Diseases of the musculoskeletal system
Astia Allenzara, Jing Li, Gabriela Schmajuk
et al.
Objective The aim was to describe the percentage of patients with axial spondyloarthritis (axSpA), rheumatoid arthritis (RA), and systemic lupus erythematosus (SLE) in the Rheumatology Informatics System for Effectiveness (RISE) Registry who received a rehabilitation referral. Methods Data were derived from RISE, an electronic health record enabled registry of approximately 30% of the US clinical rheumatology workforce. Practices were eligible if there was at least one patient record indicating a referral to rehabilitation (physical or occupational therapy) in any plan of care. Patients from eligible practices were included if they were ≥18 years old, had two or more qualifying International Classification of Disease (ICD) codes for axSpA, RA, or SLE at least 30 days apart, and had at least one visit in 2022. The primary outcome was percentage of patients with at least one rehabilitation referral documented in 2022 and at any time, reported by patient and practice characteristics. Results A total of 20,574 adult patients with axSpA, 198,517 with RA, and 37,060 with SLE were identified. In 2022, 4.4%, 2.7%, and 2.6% of patients with axSpA, RA, and SLE were referred to rehabilitation at least once, whereas 11.8%, 9.2%, and 8.7% of these patients received a referral to rehabilitation at any time, respectively. Among practices, 52%, 61%, and 60% of practices referred <1% of patients with axSpA, RA, and SLE to rehabilitation in 2022. Conclusion Rehabilitation referral from rheumatology practices was low, with considerable variation across practices. The strength of recommendations for rehabilitation in treatment guidelines seem to have limited impact on referral practices.
Abstract Background Ulnar polydactyly, a common congenital hand anomaly, exhibits significant phenotypic variability. Existing classification systems have limitations, particularly in categorizing rare variants. This study introduces a new classification system for ulnar polydactyly that addresses these limitations. Methods We retrospectively reviewed the medical records of 35 patients with ulnar polydactyly treated at our institution between 2010 and 2022. Data collected included patient demographics, clinical presentation, radiographic findings, family history, associated anomalies, and surgical procedures. Based on detailed morphological and radiographic assessments, we developed a novel classification system comprising five main types (0–4) and associated subtypes. Results The 35 patients (23 males, 12 females) had a mean age of 3.2 years. Thirty patients had bilateral involvement, with 16 exhibiting symmetry. In total, 65 hands were affected, and one hand was excluded because the patient underwent surgery in another hospital. Type 0 was the most common (38 cases), followed by Type 4 (19 cases), Type 3 (4 cases), and Type 1 (3 cases). Our classification system effectively categorized all cases, including rare variants such as Type 1b (duplicated distal phalanx) and Type 4d (duplication originating from the deformed fourth metacarpal), which are not adequately addressed by previous classifications. Conclusions Existing classification systems for ulnar polydactyly omit two key variants: Type 1b (duplicated distal phalanx) and Type 4d (duplication from the deformed fourth metacarpal). Our system specifically incorporates these types, providing a more comprehensive framework to guide diagnosis and improve surgical planning for these rare conditions. Trial registration Retrospectively registered.
Daniel F. McWilliams, Mohsen Shahtaheri, Soraya Koushesh
et al.
Objectives: Histological osteochondral characteristics of inflammation, fibrosis, vascularity, cartilage islands, vessels entering cartilage, thickened trabeculae and cysts are associated with bone marrow lesions (BMLs) in human knee osteoarthritis (OA). We identified and developed a method for scoring comparable pathology in two rat OA knee pain models. Methods: Rats (n = 8–10 per group) were injected with monoiodoacetate (MIA) or saline, or underwent meniscal transection (MNX) or sham surgery. Pain behaviour (weight bearing asymmetry and mechanical hindpaw withdrawal thresholds (PWTs)) were measured and knee samples obtained. Features associated with BMLs were evaluated using haematoxylin and eosin or Safranin-O stained knee sections. Sections were scored for chondropathy, osteophytes, synovitis and with the human OA Bone Score modified for rats (rOABS). rOABS reliability was assessed with intraclass correlation coefficient (ICC), groups were compared using Mann-Whitney U-tests, and associations examined with Spearman's rho. Results: OABS features were more prevalent in each OA pain group than in controls. rOABS displayed good inter-rater reliability (ICC = 0.79). rOABS was higher in each model than controls; MIA 3.0 (2.3–4.0) vs vehicle 0.0 (0.0–0.0), and MNX 4.0 (2.3–4.8) vs sham 0.0 (0.0–0.0), each p < 0.003. rOABS was associated with OA cartilage involvement (rho = 0.69, p < 0.001), osteophyte (rho = 0.61, p < 0.001) and synovial inflammation (rho = 0.76, p < 0.001). Higher rOABS was associated with pain behaviour: weight bearing asymmetry (rho = 0.65, p < 0.001) and PWT (rho = −0.47, p = 0.003). Conclusions: Subchondral pathology in rat OA models resembles human subchondral BMLs. rOABS reliably measured subchondral pathology and was associated with OA structure and pain behaviour.
Abstract Background Several clinical and biomechanical studies on tension band wiring (TBW) using a ring-pin system have been conducted, but no consensus has been reached on the ideal surgical technique. In this study, we aimed to determine the ideal interval and length of ring pins for the treatment of transverse olecranon fractures using TBW with a ring-pin system. Methods A biomechanical study was performed using 32 fourth-generation composite ulnae and a ring-pin system specially designed for TBW. Four groups of eight sawbones were created based on the interval and length of the ring pins. A cyclic loading test was performed to measure stability during the active range of motion exercises. A load-to-failure test measured the maximal load until fixation loss. Results All groups were stable, with a micromotion of < 1.0 mm, except for Group 3 (length: 50 mm, interval: 10 mm) during the cyclic loading test. The mean micromotion and displacement of Group 3 were significantly higher than those of Groups 2 and 4 (length: 90 mm, interval: 10 mm). The maximal load to failure in Group 3 was significantly lower than that of Groups 2 and 4. Conclusion Inserting two ring pins in parallel at a 10-mm interval with a length of ≥ 70 mm for TBW in transverse olecranon fractures is recommended. Further widening of the pin interval provides no biomechanical benefit and may result in technical difficulties owing to the anatomical features of the ulna; in summary, 50-mm ring pins show significantly lower mechanical strength.
Accurate disease detection is of paramount importance for effective medical treatment and patient care. However, the process of disease detection is often associated with extensive medical testing and considerable costs, making it impractical to perform all possible medical tests on a patient to diagnose or predict hundreds or thousands of diseases. In this work, we propose Collaborative Learning for Disease Detection (CLDD), a novel graph-based deep learning model that formulates disease detection as a collaborative learning task by exploiting associations among diseases and similarities among patients adaptively. CLDD integrates patient-disease interactions and demographic features from electronic health records to detect hundreds or thousands of diseases for every patient, with little to no reliance on the corresponding medical tests. Extensive experiments on a processed version of the MIMIC-IV dataset comprising 61,191 patients and 2,000 diseases demonstrate that CLDD consistently outperforms representative baselines across multiple metrics, achieving a 6.33\% improvement in recall and 7.63\% improvement in precision. Furthermore, case studies on individual patients illustrate that CLDD can successfully recover masked diseases within its top-ranked predictions, demonstrating both interpretability and reliability in disease prediction. By reducing diagnostic costs and improving accessibility, CLDD holds promise for large-scale disease screening and social health security.
Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal, and cervical involvement. Although KMT2B-related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the full spectrum of the disease. We describe a cohort of 53 patients with KMT2B mutations, with detailed delineation of their clinical phenotype and molecular genetic features. We report new disease presentations, including atypical patterns of dystonia evolution and a subgroup of patients with a non-dystonic neurodevelopmental phenotype. In addition to the previously reported systemic features, our study has identified co-morbidities, including the risk of status dystonicus, intrauterine growth retardation, and endocrinopathies. Analysis of this study cohort (n = 53) in tandem with published cases (n = 80) revealed that patients with chromosomal deletions and protein-truncating variants had a significantly higher burden of systemic disease (with earlier onset of dystonia) than those with missense variants. Eighteen individuals had detailed longitudinal data available after insertion of deep brain stimulation for medically refractory dystonia. Median age at deep brain stimulation was 11.5 years (range: 4.5 to 37.0 years). Follow-up after deep brain stimulation ranged from 0.25 to 22 years. Significant improvement of motor function and disability (as assessed by the Burke-Fahn-Marsden Dystonia Rating Scales, BFMDRS-M and BFMDRS-D) was evident at 6 months, 1 year, and last follow-up (motor, P = 0.001, P = 0.004, and P = 0.012; disability, P = 0.009, P = 0.002, and P = 0.012).
Bosubabu Sambana, Hillary Sunday Nnadi, Mohd Anas Wajid
et al.
Plant diseases pose significant challenges to farmers and the agricultural sector at large. However, early detection of plant diseases is crucial to mitigating their effects and preventing widespread damage, as outbreaks can severely impact the productivity and quality of crops. With advancements in technology, there are increasing opportunities for automating the monitoring and detection of disease outbreaks in plants. This study proposed a system designed to identify and monitor plant diseases using a transfer learning approach. Specifically, the study utilizes YOLOv7 and YOLOv8, two state-ofthe-art models in the field of object detection. By fine-tuning these models on a dataset of plant leaf images, the system is able to accurately detect the presence of Bacteria, Fungi and Viral diseases such as Powdery Mildew, Angular Leaf Spot, Early blight and Tomato mosaic virus. The model's performance was evaluated using several metrics, including mean Average Precision (mAP), F1-score, Precision, and Recall, yielding values of 91.05, 89.40, 91.22, and 87.66, respectively. The result demonstrates the superior effectiveness and efficiency of YOLOv8 compared to other object detection methods, highlighting its potential for use in modern agricultural practices. The approach provides a scalable, automated solution for early any plant disease detection, contributing to enhanced crop yield, reduced reliance on manual monitoring, and supporting sustainable agricultural practices.
Nathalia A. Loureiro, Camilo R. Neto, Jack Sutton
et al.
Inter-city interactions are critical for the transmission of infectious diseases, yet their effects on the scaling of disease cases remain largely underexplored. Here, we use the commuting network as a proxy for inter-city interactions, integrating it with a general scaling framework to describe the incidence of seven infectious diseases across Brazilian cities as a function of population size and the number of commuters. Our models significantly outperform traditional urban scaling approaches, revealing that the relationship between disease cases and a combination of population and commuters varies across diseases and is influenced by both factors. Although most cities exhibit a less-than-proportional increase in disease cases with changes in population and commuters, more-than-proportional responses are also observed across all diseases. Notably, in some small and isolated cities, proportional rises in population and commuters correlate with a reduction in disease cases. These findings suggest that such towns may experience improved health outcomes and socioeconomic conditions as they grow and become more connected. However, as growth and connectivity continue, these gains diminish, eventually giving way to challenges typical of larger urban areas - such as socioeconomic inequality and overcrowding - that facilitate the spread of infectious diseases. Our study underscores the interconnected roles of population size and commuter dynamics in disease incidence while highlighting that changes in population size exert a greater influence on disease cases than variations in the number of commuters.
Gregory J. Challener, Janeth Yinh, Minna J. Kohler
Immune checkpoint inhibitors (ICIs) have transformed cancer care, but their use is frequently complicated by immune-related adverse events (irAEs), including rheumatic manifestations such as arthritis. Distinguishing between inflammatory and non-inflammatory musculoskeletal symptoms is challenging, yet critical for appropriate management. Musculoskeletal ultrasound (MSKUS) provides unique advantages in this context by enabling the detection of subclinical synovitis, periarticular pathology, and crystal deposition, while also facilitating treatment decisions, including targeted corticosteroid injections. We present four cases that highlight the utility of MSKUS as a frontline tool in the evaluation of musculoskeletal irAEs.
Systemic autoimmune diseases are characteristically associated with aberrant autoreactive innate and adaptive immune responses that lead to tissue damage and increased morbidity and mortality. Autoimmunity has been linked to alterations in the metabolic functions of immune cells (immunometabolism) and, more specifically, to mitochondrial dysfunction. Much has been written about immunometabolism in autoimmunity in general, so this Essay focuses on recent research into the role of mitochondrial dysfunction in the dysregulation of innate and adaptive immunity that is characteristic of systemic autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Enhancing the understanding of mitochondrial dysregulation in autoimmunity will hopefully contribute to accelerating the development of immunomodulatory treatments for these challenging diseases.
Generalist Large Language Models (LLMs), such as GPT-4, have shown considerable promise in various domains, including medical diagnosis. Rare diseases, affecting approximately 300 million people worldwide, often have unsatisfactory clinical diagnosis rates primarily due to a lack of experienced physicians and the complexity of differentiating among many rare diseases. In this context, recent news such as "ChatGPT correctly diagnosed a 4-year-old's rare disease after 17 doctors failed" underscore LLMs' potential, yet underexplored, role in clinically diagnosing rare diseases. To bridge this research gap, we introduce RareBench, a pioneering benchmark designed to systematically evaluate the capabilities of LLMs on 4 critical dimensions within the realm of rare diseases. Meanwhile, we have compiled the largest open-source dataset on rare disease patients, establishing a benchmark for future studies in this domain. To facilitate differential diagnosis of rare diseases, we develop a dynamic few-shot prompt methodology, leveraging a comprehensive rare disease knowledge graph synthesized from multiple knowledge bases, significantly enhancing LLMs' diagnostic performance. Moreover, we present an exhaustive comparative study of GPT-4's diagnostic capabilities against those of specialist physicians. Our experimental findings underscore the promising potential of integrating LLMs into the clinical diagnostic process for rare diseases. This paves the way for exciting possibilities in future advancements in this field.
In this work, we describe our submissions for the Voice Privacy Challenge 2024. Rather than proposing a novel speech anonymization system, we enhance the provided baselines to meet all required conditions and improve evaluated metrics. Specifically, we implement emotion embedding and experiment with WavLM and ECAPA2 speaker embedders for the B3 baseline. Additionally, we compare different speaker and prosody anonymization techniques. Furthermore, we introduce Mean Reversion F0 for B5, which helps to enhance privacy without a loss in utility. Finally, we explore disentanglement models, namely $β$-VAE and NaturalSpeech3 FACodec.
AbstractOsteoarthritis is a joint disease characterized by a poorly-defined inflammatory response that does not encompass a massive immune cell infiltration yet contributes to cartilage degradation and loss of joint mobility, suggesting a chondrocyte intrinsic inflammatory response. Using primary chondrocytes from joints of osteoarthritic mice and patients, we first show that these cells express ample pro-inflammatory markers and RANKL in an NF-κB dependent manner. The inflammatory phenotype of chondrocytes was recapitulated by exposure of chondrocytes to IL-1β and bone particles, which were used to model bone matrix breakdown products revealed to be present in synovial fluid of OA patients, albeit their role was not defined. We further show that bone particles and IL-1β can promote senescent and apoptotic changes in primary chondrocytes due to oxidative stress from various cellular sources such as the mitochondria. Finally, we provide evidence that inflammation, oxidative stress and senescence converge upon IκB-ζ, the principal mediator downstream of NF-κB, which regulates expression of RANKL, inflammatory, catabolic, and SASP genes. Overall, this work highlights the capacity and mechanisms by which inflammatory cues, primarily joint degradation products, i.e., bone matrix particles in concert with IL-1β in the joint microenvironment, program chondrocytes into an “inflammatory phenotype” which inflects local tissue damage.