Hasil untuk "Diseases of the musculoskeletal system"

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arXiv Open Access 2026
FecalFed: Privacy-Preserving Poultry Disease Detection via Federated Learning

Tien-Yu Chi

Early detection of highly pathogenic avian influenza (HPAI) and endemic poultry diseases is critical for global food security. While computer vision models excel at classifying diseases from fecal imaging, deploying these systems at scale is bottlenecked by farm data privacy concerns and institutional data silos. Furthermore, existing open-source agricultural datasets frequently suffer from severe, undocumented data contamination. In this paper, we introduce $\textbf{FecalFed}$, a privacy-preserving federated learning framework for poultry disease classification. We first curate and release $\texttt{poultry-fecal-fl}$, a rigorously deduplicated dataset of 8,770 unique images across four disease classes, revealing and eliminating a 46.89$\%$ duplication rate in popular public repositories. To simulate realistic agricultural environments, we evaluate FecalFed under highly heterogeneous, non-IID conditions (Dirichlet $α=0.5$). While isolated single-farm training collapses under this data heterogeneity, yielding only 64.86$\%$ accuracy, our federated approach recovers performance without centralizing sensitive data. Specifically, utilizing server-side adaptive optimization (FedAdam) with a Swin-Small architecture achieves 90.31$\%$ accuracy, closely approaching the centralized upper bound of 95.10\%. Furthermore, we demonstrate that an edge-optimized Swin-Tiny model maintains highly competitive performance at 89.74$\%$, establishing a highly efficient, privacy-first blueprint for on-farm avian disease monitoring.

en cs.CV
arXiv Open Access 2026
INDIGENA: inductive prediction of disease-gene associations using phenotype ontologies

Fernando Zhapa-Camacho, Robert Hoehndorf

Motivation: Predicting gene-disease associations (GDAs) is the problem to determine which gene is associated with a disease. GDA prediction can be framed as a ranking problem where genes are ranked for a query disease, based on features such as phenotypic similarity. By describing phenotypes using phenotype ontologies, ontology-based semantic similarity measures can be used. However, traditional semantic similarity measures use only the ontology taxonomy. Recent methods based on ontology embeddings compare phenotypes in latent space; these methods can use all ontology axioms as well as a supervised signal, but are inherently transductive, i.e., query entities must already be known at the time of learning embeddings, and therefore these methods do not generalize to novel diseases (sets of phenotypes) at inference time. Results: We developed INDIGENA, an inductive disease-gene association method for ranking genes based on a set of phenotypes. Our method first uses a graph projection to map axioms from phenotype ontologies to a graph structure, and then uses graph embeddings to create latent representations of phenotypes. We use an explicit aggregation strategy to combine phenotype embeddings into representations of genes or diseases, allowing us to generalize to novel sets of phenotypes. We also develop a method to make the phenotype embeddings and the similarity measure task-specific by including a supervised signal from known gene-disease associations. We apply our method to mouse models of human disease and demonstrate that we can significantly improve over the inductive semantic similarity baseline measures, and reach a performance similar to transductive methods for predicting gene-disease associations while being more general. Availability and Implementation: https://github.com/bio-ontology-research-group/indigena

en q-bio.QM
CrossRef Open Access 2024
Synovium and infrapatellar fat pad share common mesenchymal progenitors and undergo coordinated changes in osteoarthritis

Jun Li, Tao Gui, Lutian Yao et al.

Abstract Osteoarthritis (OA) affects multiple tissues in the knee joint, including the synovium and intra-articular adipose tissue (IAAT) that are attached to each other. However, whether these two tissues share the same progenitor cells and hence function as a single unit in joint homeostasis and diseases is largely unknown. Single-cell transcriptomic profiling of synovium and infrapatellar fat pad (IFP), the largest IAAT, from control and OA mice revealed five mesenchymal clusters and predicted mesenchymal progenitor cells (MPCs) as the common progenitors for other cells: synovial lining fibroblasts (SLFs), myofibroblasts (MFs), and preadipocytes 1 and 2. Histologic examination of joints in reporter mice having Dpp4-CreER and Prg4-CreER that label MPCs and SLFs, respectively, demonstrated that Dpp4+ MPCs reside in the synovial sublining layer and give rise to Prg4+ SLFs and Perilipin+ adipocytes during growth and OA progression. After OA injury, both MPCs and SLFs gave rise to MFs, which remained in the thickened synovium at later stages of OA. In culture, Dpp4+ MPCs possessed mesenchymal progenitor properties, such as proliferation and multilineage differentiation. In contrast, Prg4+ SLFs did not contribute to adipocytes in IFP and Prg4+ cells barely grew in vitro. Taken together, we demonstrate that the synovium and joint fat pad are one integrated functional tissue sharing common mesenchymal progenitors and undergoing coordinated changes during OA progression.

36 sitasi en
CrossRef Open Access 2025
Physical activity among adolescents and young adults living with chronic pain and sickle cell disease: a qualitative examination

Jan T Mooney, Cynthia Sinha, Nitya Bakshi et al.

Abstract Objectives Chronic pain among youth with sickle cell disease (SCD) is associated with significant functional disability. Physical activity is recommended for pediatric chronic pain and is safe, feasible, and beneficial for individuals with SCD, yet uptake is limited. This study describes the adolescent- and caregiver-centered lived experience of physical activity within the context of SCD and chronic pain to inform intervention targets. Methods Adolescents aged 12–18 years with any SCD genotype and medium or greater risk of chronic pain (Pediatric Pain Screening Tool) were recruited across two sites for an intervention development study. Semi-structured interviews elicited perspectives related to physical activity and its role in pain management. A deductive-inductive approach was used with the Fear Avoidance Model as an analytic framework. Results Adolescents (n = 12; 15.1 ± 1.5 years) were Black/African American, even sex distribution, with 92% Medicaid-covered. Caregivers (n = 12; 39.4 ± 5.8 years) were Black/African American, and 100% were mothers/stepmothers. Physical activity facilitators included structured social activities and older age. Barriers included triggering or worsening pain and safety concerns expressed by caregivers and adults. Caregivers emphasized that adolescents developing self-awareness helps them modify physical activity to prevent pain. Benefits of physical activity to manage pain included minimizing stiffness and pain exacerbation and sustained pain reduction. Conclusions Physical activity to manage chronic SCD pain may require individualization and adaptation to address patient and caregiver concerns. Future intervention targets need to address unique facilitators and barriers, minimize challenges, and promote benefits of physical activity for chronic SCD pain.

1 sitasi en
DOAJ Open Access 2025
Assessment of bone health by bone turnover biomarkers in a cohort of Egyptian patients with inflammatory bowel disease: a cross-sectional analytical study

Salma Omran, Hadeel Gamal Eldeen, Zeinab Abdellatif et al.

Abstract Background Patients with inflammatory bowel disease (IBD) are at variable risk of reduced bone mineral density (BMD) and osteoporosis (OP) owing to glucocorticoids, chronic inflammation, malabsorption, etc. This makes them prone to osteoporotic fractures, which poorly affect the quality of life. Our purpose is to measure bone turnover markers (BTMs) reflecting bone resorption and formation, in addition to calciotropic hormones in IBD patients, and compare them to healthy controls and their relation to disease activity, extension, and treatment modalities. Results This is a cross-sectional analytical study that included 92 participants: 45 IBD patients; ulcerative colitis (UC) and Crohn’s disease (CD) and 47 controls. Fasting blood samples were withdrawn for BTMs including bone formation markers (Procollagen I N-terminal propeptide {PINP} and bone-specific alkaline phosphatase {BALP}) and bone resorptive marker (C-terminal telopeptide of type I collagen {CTX}) in addition to calciotropic hormones (25-hydroxyvitamin D {25(OH)D} and parathyroid hormones PTH}). These markers were evaluated in both UC and CD patients with respect to disease activity, extension, or treatment modality. Low serum 25(OH)D levels were detected in UC (92%) and CD (100%), whereas high PTH levels were detected in UC (48%) and CD (45%) with elevated median levels. No significant differences were identified between the UC and CD groups. IBD patients exhibited a significant increase in CTX, PINP, and BALP levels, indicating higher turnover and metabolic bone disease with no significant differences between UC and CD groups. Higher levels of BTMs were observed in cases with low vitamin D levels. Considering disease activity and bowel involvement, BTM levels were comparable in UC and CD patients. Patients receiving anti-tumor necrosis-α (anti-TNF-α), 17/45, had significantly lower increases in CTX and PINP levels. Conclusion Biochemical and hormonal work-up using BTMs, 25(OH)D, and PTH may be beneficial to assess early bone health in IBD patients. IBD patients with lower levels of vitamin D were more prone to higher BTMs and bone changes. However, IBD patients receiving anti-TNF-α were less prone to bone changes, denoting better bone integrity, than those not receiving anti-TNF-α.

Diseases of the musculoskeletal system
DOAJ Open Access 2025
Annular Ligament Instability in Lateral Elbow Pathology: Objective Confirmation Through a Cadaveric Study

Daniel Berlanga de Mingo, Guillem Paz Ramírez, Arnau Moreno Garcia et al.

Background: The annular ligament is a key secondary stabilizer of the elbow, but its biomechanical behavior during forearm rotation has not been objectively quantified. This study aimed to assess interindividual variability in annular ligament tension, validate prior arthroscopic observations, and explore associations with chondral lesions in the lateral elbow compartment. Methods: In this cross-sectional anatomical study, 25 cadaveric upper limbs were analyzed following standardized dissection, preserving ligamentous and muscular integrity. Ligament displacement was measured using a custom mechanical apparatus and high-precision digital micrometer in neutral, 60° pronation, and 60° supination positions under axial tractions of 1, 2, and 3 kg. Ulnar length and presence of chondral lesions were also recorded. Results: Maximal ligament displacement occurred in supination in 80% of specimens (mean: 1.23 mm at 3 kg; range: 0.30–2.87 mm), indicating considerable interindividual variation. Significant displacement differences were observed between all forearm positions across load levels (<i>p</i> < 0.001). Chondral lesions were identified in three specimens with marked ligament laxity and reduced radial head coverage. Conclusions: This study provides the first objective evidence of annular ligament tension variability during forearm rotation. Ligament laxity may contribute to lateral elbow instability and cartilage degeneration, supporting the ligament’s role as a secondary stabilizer.

Physiology, Diseases of the musculoskeletal system
arXiv Open Access 2025
Modeling Bias Evolution in Fashion Recommender Systems: A System Dynamics Approach

Mahsa Goodarzi, M. Abdullah Canbaz

Bias in recommender systems not only distorts user experience but also perpetuates and amplifies existing societal stereotypes, particularly in sectors like fashion e-commerce. This study employs a dynamic modeling approach to scrutinize the mechanisms of bias activation and reinforcement within Fashion Recommender Systems (FRS). By leveraging system dynamics modeling and experimental simulations, we dissect the temporal evolution of bias and its multifaceted impacts on system performance. Our analysis reveals that inductive biases exert a more substantial influence on system outcomes than user biases, suggesting critical areas for intervention. We demonstrate that while current debiasing strategies, including data rebalancing and algorithmic regularization, are effective to an extent, they require further enhancement to comprehensively mitigate biases. This research underscores the necessity for advancing these strategies and extending system boundaries to incorporate broader contextual factors such as user demographics and item diversity, aiming to foster inclusivity and fairness in FRS. The findings advocate for a proactive approach in recommender system design to counteract bias propagation and ensure equitable user experiences.

en cs.IR, cs.AI
arXiv Open Access 2025
Extending Load Forecasting from Zonal Aggregates to Individual Nodes for Transmission System Operators

Oskar Triebe, Fletcher Passow, Simon Wittner et al.

The reliability of local power grid infrastructure is challenged by sustainable energy developments increasing electric load uncertainty. Transmission System Operators (TSOs) need load forecasts of higher spatial resolution, extending current forecasting operations from zonal aggregates to individual nodes. However, nodal loads are less accurate to forecast and require a large number of individual forecasts, which are hard to manage for the human experts assessing risks in the control room's daily operations (operator). In collaboration with a TSO, we design a multi-level system that meets the needs of operators for hourly day-ahead load forecasting. Utilizing a uniquely extensive dataset of zonal and nodal net loads, we experimentally evaluate our system components. First, we develop an interpretable and scalable forecasting model that allows for TSOs to gradually extend zonal operations to include nodal forecasts. Second, we evaluate solutions to address the heterogeneity and volatility of nodal load, subject to a trade-off. Third, our system is manageable with a fully parallelized single-model forecasting workflow. Our results show accuracy and interpretability improvements for zonal forecasts, and substantial improvements for nodal forecasts. In practice, our multi-level forecasting system allows operators to adjust forecasts with unprecedented confidence and accuracy, and to diagnose otherwise opaque errors precisely.

en cs.LG, cs.HC
arXiv Open Access 2025
Inhibiting Alzheimer's Disease by Targeting Aggregation of Beta-Amyloid

Ananya Joshi, George Khoury, Christodoulas Floudas

Alzheimer's disease is characterized by dangerous amyloid plaques formed by deposits of the protein Beta-Amyloid aggregates in the brain. The specific amino acid sequence that is responsible for the aggregates of Beta-Amyloid is lys-leu-val-phe-phe (KLVFF). KLVFF aggregation inhibitors, which we design in this paper, prevent KLVFF from binding with itself to form oligomers or fibrils (and eventually plaques) that cause neuronal death. Our binder-blocker peptides are designed such that, on one side, they bind strongly to KLVFF, and on the other side, they disrupt critical interactions, thus preventing aggregation. Our methods use optimization techniques and molecular simulations and identify 10 candidate sequences for trial of the 3.2 million possible sequences. This approach for inhibitor identification can be generalized to other diseases characterized by protein aggregation, such as Parkinson's, Huntington's, and prion diseases.

en q-bio.QM
CrossRef Open Access 2025
<scp>MC BTS</scp> : Simultaneously Resolving Magnetization Transfer Effect and Relaxation for Multiple Components

Albert Jang, Hyungseok Jang, Nian Wang et al.

ABSTRACT Purpose To propose a signal acquisition and modeling framework for multi‐component tissue quantification that encompasses transmit field inhomogeneity, multi‐component relaxation and magnetization transfer (MT) effects. Theory and Methods By applying off‐resonance irradiation between excitation and acquisition within an RF‐spoiled gradient‐echo scheme, in combination with multiple echo‐time acquisitions, both Bloch‐Siegert shift and magnetization transfer effects are simultaneously induced while relaxation and spin exchange processes occur concurrently. The spin dynamics are modeled using a three‐pool framework, from which an analytical signal equation is derived and validated through numerical Bloch simulations. Monte Carlo simulations were further performed to analyze and compare the model's performance. Finally, the feasibility of this novel approach was investigated in vivo in human brain and knee tissues. Results Simulation results showed excellent agreement with the derived analytical signal equation across a wide range of flip angles and echo times. Monte Carlo analyses further validated that the three‐pool parameter estimation pipeline performed robustly over various signal‐to‐noise ratio conditions. Multi‐parameter fitting results from in vivo brain and knee studies yielded values consistent with previously reported literature. Collectively, these findings confirm that the proposed method can reliably characterize multi‐component tissue parameters in macromolecule‐rich environments while effectively compensating for inhomogeneity. Conclusion A signal acquisition and modeling framework for multi‐component tissue quantification that accounts for magnetization transfer effects and inhomogeneity has been developed and validated. Both simulation and experimental results confirmed the robustness of this method and its applicability to various tissue types in the brain and knee.

DOAJ Open Access 2024
Zero-profile implant system versus novel plate systems after ACDF for comparison of sagittal balance parameters and clinical efficacy analysis

Yan Gong, Hang Zhuo, Zelin Zhou et al.

Abstract Background The zero-profile implant system (Zero-P) and conventional plates have been widely used in anterior cervical discectomy and fusion (ACDF) to treat cervical spondylosis. The purpose of this study was to compare the effects of the application of Zero-P and new conventional plates (ZEVO, Skyline) in ACDF on the sagittal imaging parameters of cervical spondylosis patients and to analyze their clinical efficacy. Methods We conducted a retrospective study on 119 cervical spondylosis patients from January 2018 to December 2021, comparing outcomes between those receiving the Zero-P device (n = 63) and those receiving a novel conventional plate (n = 56, including 46 ZEVO and 10 Skyline plates) through ACDF. Cervical sagittal alignment was assessed pre- and postoperatively via lateral radiographs. The Japanese Orthopedic Association (JOA), Neck Disability Index (NDI), and visual analog scale (VAS) scores were recorded at baseline, after surgery, and at the 2-year follow-up to evaluate patient recovery and intervention success. Results There were significant differences in the postoperative C0-C2 Cobb angle and postoperative sagittal segmental angle (SSA) between patients in the novel conventional plate group and those in the Zero-P group (P < 0.05). Postoperatively, there were significant changes in the C2‒C7 Cobb angle, C0‒C2 Cobb angle, SSA, and average surgical disc height (ASDH) compared to the preoperative values in both patient groups (P < 0.05). Dysphagia in the immediate postoperative period was lower in the Zero-P group than in the new conventional plate group (0% in the Zero-P group, 7.14% in the novel conventional plate group, P = 0.046), and the symptoms disappeared within 2 years in both groups. There was no statistically significant difference between the two groups in terms of complications of adjacent spondylolisthesis (ASD) at 2 years postoperatively (3.17% in the Zero-P group, 8.93% in the novel conventional plate group; P = 0.252). According to the subgroup analysis, there were significant differences in the postoperative C2‒C7 Cobb angle, C0‒C2 Cobb angle, T1 slope, and ASDH between the ZEVO group and the Skyline group (P < 0.05). Compared with the preoperative scores, the JOA, NDI, and VAS scores of all groups significantly improved at the 2-year follow-up (P < 0.01). According to the subgroup analysis, the immediate postoperative NDI and VAS scores of the ZEVO group were significantly better than those of the Skyline group (P < 0.05). Conclusion In ACDF, both novel conventional plates and Zero-P can improve sagittal parameters and related scale scores. Compared to the Zero-P plate, the novel conventional plate has a greater advantage in correcting the curvature of the surgical segment, but the Zero-P plate is less likely to produce postoperative dysphagia.

Orthopedic surgery, Diseases of the musculoskeletal system
CrossRef Open Access 2024
Uric acid in atherosclerosis and cardiovascular diseases: innocent bystander or ruthless killer?

Giovanni Cimmino, Francesco Natale, Rosa Franzese et al.

Medical attention to uric acid (UA) has been increasing in recent years, mainly because this molecule has been shown to be associated with increased cardiovascular risk, both in the general population and in the hypertensive patients. A growing body of clinical and experimental data supports this view and prompts reconsideration of the role of UA in the development of atherosclerosis and the genesis of cardiovascular disease. It is known that this substance, in certain plasma concentrations, induces increased oxidative stress, a chronic inflammatory state, and a whole series of other modifications that are potentially deleterious at the cardiovascular level leading to hypertension, atherosclerosis, atrial fibrillation (AF), and other metabolic changes such as diabetes, metabolic syndrome, non-alcoholic fatty liver disease and kidney failure. Despite this epidemiologic and mechanistic evidence, the current guidelines from international cardiology scientific societies do not give precise indications in this regard, and some of them only suggest UA evaluation as part of an initial screening of the hypertensive patient. The purpose of this review is to briefly describe the main clinical and epidemiological evidence supporting the role of hyperuricemia as a possible emerging cardiovascular risk factor and to analyze the potential pathophysiological mechanisms through which elevated UA levels may exert a detrimental effect on the cardiovascular system.

CrossRef Open Access 2023
Premature mortality with gout and hyperuricemia may be reduced by early resolution of comorbid obstructive sleep apnea

Burton Abrams

Hyperuricemia is known to be a necessary and causal condition for gout, but much more prevalent than gout. Medicine has standardized treatments for gout, but has no such determination for asymptomatic hyperuricemia. Nevertheless, people with hyperuricemia, gouty or not, too often continue to be at risk for shortened lifespans from life-threatening comorbidities, all of which are known to be consequences of obstructive sleep apnea (OSA), which is shown herein to cause most hyperuricemia. This review also presents the wide variety of OSA consequences, many of which are irreversible and life-threatening, as the rationale for treating all hyperuricemia (gouty and asymptomatic) by diagnostic testing and effective treatment for OSA as soon as hyperuricemia is detected. It advocates frequent ultrasonic screening for aggregated urate crystals. Multiple epidemiological studies have found OSA to be significantly more prevalent in those people with gout diagnosed with OSA than it is in those never diagnosed with it. A clinical study shows an even higher prevalence of OSA in people with gout. The pathophysiology of hypoxia from OSA explains how it would lead to both the overproduction and the underexcretion of uric acid, leading to hyperuricemia and the precipitation of monosodium urate crystals which cause a gout flare. Resolving OSA has been shown to prevent or even reverse life-threatening diseases that are recognized comorbidities of hyperuricemia and gout, and can prevent further gout flares. In order to extend the length and quality of life of people with gout or hyperuricemia, when either first manifests a patient sleep study is recommended, followed by effective OSA treatment as warranted.

DOAJ Open Access 2023
Exploring the correlation between serum fibroblast growth factor-21 levels and Sarcopenia: a systematic review and meta-analysis

Hao Liu, Xia He, Xiao-Yan Deng et al.

Abstract Background Fibroblast growth factor 21 (FGF-21) plays an important role in the growth and metabolism of skeletal muscle cells. This study aims to systemically review the evidence regarding the relationship between FGF-21 levels and Sarcopenia, as well as the related influential factors. Methods This review was conducted according to the PRISMA guidelines. We comprehensively searched PubMed, EMBASE, the Web of Science, Scopus, and Chinese Databases (CNKI, Wan Fang, VIP, and CBM) up to 1 May 2023. 3 investigators performed independent literature screening and data extraction of the included literature, and two investigators performed an independent quality assessment of case-control studies using the Joanna Briggs Institute (JBI) tool. Data analysis was performed using Review Manager 5.4 software. For continuous various outcomes, mean difference (MD) or standard mean difference (SMD) with 95% confidence intervals (CIs) was applied for assessment by fixed-effect or random-effect model analysis. The heterogeneity test was performed by the Q-statistic and quantified using I2, and publication bias was evaluated using a funnel plot. Results Five studies with a total of 625 cases were included in the review. Meta-analysis showed lower BMI in the sarcopenia group [MD= -2.88 (95% CI, -3. 49, -2.27); P < 0.00001; I2 = 0%], significantly reduced grip strength in the sarcopenia group compared to the non-sarcopenia group [MD = -7.32(95% CI, -10.42,-4.23); P < 0.00001; I2 = 93%]. No statistically significant differences in serum FGF21 levels were found when comparing the two groups of subjects [SMD = 0.31(95% CI, -0.42, 1.04); P = 0.41; I2 = 94%], and no strong correlation was found between the onset of sarcopenia and serum FGF21 levels. Conclusion The diagnosis of sarcopenia is followed by a more significant decrease in muscle mass and strength, but there is a lack of strong evidence to support a direct relationship between elevated organismal FGF21 and sarcopenia, and it is not convincing to use FGF21 as a biological or diagnostic marker for sarcopenia. The currently used diagnostic criteria for sarcopenia and setting of cut-off values for each evaluation parameter no longer seem to match clinical practice.

Diseases of the musculoskeletal system
DOAJ Open Access 2023
The role of bone morphology of the greater tuberosity and lateral acromion on subacromial space during scaption: a three-dimensional dynamic simulation analysis

Rodrigo Brandariz, Caecilia Charbonnier, Alejandro Culebras Almeida et al.

Abstract Background The bone morphology of the greater tuberosity and lateral acromion plays a central role in subacromial impingement syndrome. The critical shoulder angle (CSA) and greater tuberosity angle (GTA) are two-dimensional measurement parameters that have been validated to evaluate it radiologically. These markers are, however, static and don’t consider the dynamic effect of glenohumeral motion. Objectives This study aimed to better understand the biomechanics in subacromial impingement with a dynamic simulation based on a validated 3D biomechanical model coupling joint kinematics and 3D reconstructed computed tomography. Study design & methods Sixty-one patients were included in this study: a case group of 44 patients with degenerative rotator cuff tears involving only the supraspinatus, and a control group of 17 without a rotator cuff tear. Patients with previous surgeries, traumatic cuff tears, and cuff tear arthropathy were excluded. CSA, GTA, and impingement-free range of motion (IF-ROM) of the glenohumeral joint in scaption were calculated. Correlation tests were used to determine the relationship between ROM and CSA, GTA, and combined CSA and GTA values. Results CSA and GTA were significantly higher in the rotator cuff tear group (p = 0.001 and < 0.001), while IF-ROM was significantly higher in the control group (p = 0.001). There was no overall correlation between CSA and GTA (R = 0.02, p = 0.8). Individual correlation between both angles with IF-ROM was negatively weak for CSA (R = -0.4, p < 0.001) and negatively moderate for GTA and IF-ROM (R = -0.5, p < 0.001). However, combining both angles resulted in a negatively high correlation with IF-ROM (R = -0.7, p < 0.001). Conclusion Subacromial space narrowing during scaption is highly correlated to the cumulative values of GTA and CSA. These findings suggest that the combined bony morphology of the lateral acromion and greater tuberosity plays an important role in subacromial impingement. Level of evidence III

Diseases of the musculoskeletal system
DOAJ Open Access 2023
Polymorphic Variants of the <i>ADAMTS5</i> Gene as New Markers of Joint Hypermobility

K. E. Akhiiarova, R. I. Khusainova, B. I. Yalaev et al.

Joint hypermobility (JH) is a common phenotype that can be both an independent clinical syndrome and a manifestation of connective tissue diseases. The pathogenesis of JH is not well understood. JH may be a predisposing factor in the development of musculoskeletal system pathology, so it is necessary to identify its molecular markers to prevent the formation of associated disorders.Objective: to search for associations of five polymorphic variants of the ADAMTS5 gene with JH and connective tissue dysplasia (CTD).Material and methods. A one-stage screening study of young people (n=181, mean age 21.86±0.22 years) was performed. We searched for associations of polymorphic variants of the rs226794, rs9978597, rs2830585, rs229077, rs229069 loci of the ADAMTS5 gene with JH, undifferentiated CTD, and their combinations. JH was determined by the Beighton scale, CTD – by a quantitative method. The study of polymorphic variants was carried out using real-time polymerase chain reaction. To compare qualitative features, Fisher's exact test with Yates’s correction for 2×2 contingency tables was used. The strength of associations was assessed using the odds ratio (OR), differences were considered significant at p&lt;0.05, the correction for multiple comparisons was performed using the Benjamini–Hochberg method (false discovery rate, FDR).Results and discussion. JH was detected in 128 (70.7%), signs of CTD – in 129 (71.3%) patients, including 115 (63.5%) patients in combination with JH. We found associations of the T allele and the TT genotype of the rs9978597 locus with the presence of JH (OR 5.00 and 7.81, respectively), CTD (OR 3.13 and 3.96), or their combinations (OR 6.33 and 10.23). An association of the GG genotype of the rs226794 locus with isolated JH was also found (OR 3.87).Conclusion. The GG genotype of the rs226794 locus of the ADAMTS5 gene is a marker of isolated JH, the T allele of the rs9978597 locus is a marker of both isolated JH and CTD, and their combination.

DOAJ Open Access 2023
Mejoría del dolor, la función y la calidad de vida en dolor lumbar subagudo: ensayo clínico controlado con ejercicio vs. AINES.

Jesús Alberto Plata Contreras, Kelly de San José Payares Álvares , Luisa Fernanda Mesa Franco et al.

Introducción. El dolor lumbar es una de las causas más frecuentes de consulta y discapacidad en pacientes, y según su evolución temporal se puede clasificar como agudo, subagudo y crónico. Objetivo. Estimar en pacientes con Dolor Lumbar Subagudo (DLS), la eficacia de un programa de ejercicio comparado con antiinflamatorios no esteroideos (AINES).Métodos. Se realizó un ensayo clínico controlado aleatorio, con enmascaramiento simple en 90 pacientes y DLS con o sin radiculopatía, 46 pacientes fueron asignados a un programa de ejercicio físico y 44 a tratamiento con AINES. El desenlace primario fue la mejoría del dolor y los secundarios mejoría en la función, calidad de vida, ausentismo laboral y depresión con seguimiento a 1, 3 y 6 meses. Resultados. Al mes, no se registró diferencias en el dolor entre los grupos de 8,16 (IC 95 % -2,19 a 18,51), sin embargo, en el grupo de ejercicios hubo una mejoría de 47,3 (SD: 19,8) a 28,8 (SD: 20,5), p <0,001, y en el grupo de AINES de 45,2 (SD: 22,6) a 34,9 (SD: 25,0), p = 0,018. Otras muestras de mejoría se observaron en la función medida por el Índice de Discapacidad de Oswestry (ODI), la cual mejoró al mes en el grupo de ejercicio (p<0,001), mientras,la función física también mejoró al mes en el grupo de ejercicio (p= 0,038). Otra mejoría se observó en el dolor, función y calidad de vida que se mantuvo a los 3 y 6 meses en ambos grupos. Finalmente, La recurrencia fue mayor en el grupo de AINES: 25,5 % vs. 7,1 % (p= 0,04) al mes; 25,5 % vs. 7,1 % (p= 0,04) y 20,5 % vs. 5 % (p= 0,04), a los 3 y 6 meses.Conclusión. El ejercicio supervisado fue más efectivo que los AINES para disminuir la discapacidad y las recurrencias y mejorar la función física en pacientes con DLS.

Diseases of the musculoskeletal system, Medicine
arXiv Open Access 2023
On the Feasibility of Machine Learning Augmented Magnetic Resonance for Point-of-Care Identification of Disease

Raghav Singhal, Mukund Sudarshan, Anish Mahishi et al.

Early detection of many life-threatening diseases (e.g., prostate and breast cancer) within at-risk population can improve clinical outcomes and reduce cost of care. While numerous disease-specific "screening" tests that are closer to Point-of-Care (POC) are in use for this task, their low specificity results in unnecessary biopsies, leading to avoidable patient trauma and wasteful healthcare spending. On the other hand, despite the high accuracy of Magnetic Resonance (MR) imaging in disease diagnosis, it is not used as a POC disease identification tool because of poor accessibility. The root cause of poor accessibility of MR stems from the requirement to reconstruct high-fidelity images, as it necessitates a lengthy and complex process of acquiring large quantities of high-quality k-space measurements. In this study we explore the feasibility of an ML-augmented MR pipeline that directly infers the disease sidestepping the image reconstruction process. We hypothesise that the disease classification task can be solved using a very small tailored subset of k-space data, compared to image reconstruction. Towards that end, we propose a method that performs two tasks: 1) identifies a subset of the k-space that maximizes disease identification accuracy, and 2) infers the disease directly using the identified k-space subset, bypassing the image reconstruction step. We validate our hypothesis by measuring the performance of the proposed system across multiple diseases and anatomies. We show that comparable performance to image-based classifiers, trained on images reconstructed with full k-space data, can be achieved using small quantities of data: 8% of the data for detecting multiple abnormalities in prostate and brain scans, and 5% of the data for knee abnormalities. To better understand the proposed approach and instigate future research, we provide an extensive analysis and release code.

en cs.LG
arXiv Open Access 2023
Analysis of Control Measures for Vector-borne Diseases Using a Multistage Vector Model with Multi-Host Sub-populations

Francis G. T. Kamba, Leonard C. Eze, Jean Claude Kamgang et al.

We propose and analyze an epidemiological model for vector borne diseases that integrates a multi-stage vector population and several host sub-populations which may be characterized by a variety of compartmental model types: subpopulations all include Susceptible and Infected compartments, but may or may not include Exposed and/or Recovered compartments. The model was originally designed to evaluate the effectiveness of various prophylactic measures in malaria-endemic areas, but can be applied as well to other vector-borne diseases. This model is expressed as a system of several differential equations, where the number of equations depends on the particular assumptions of the model. We compute the basic reproduction number $\mathcal R_0$, and show that if $\mathcal R_0\leqslant 1$, the disease free equilibrium (DFE) is globally asymptotically stable (GAS) on the nonnegative orthant. If $\mathcal R_0>1$, the system admits a unique endemic equilibrium (EE) that is GAS. We analyze the sensitivity of $R_0$ and the EE to different system parameters, and based on this analysis we discuss the relative effectiveness of different control measures.

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