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Cureus Apr 2024Lyme disease is a progressive infectious disease caused by the species that affects multiple organ systems, including the brain, heart, skin, and musculoskeletal...
Lyme disease is a progressive infectious disease caused by the species that affects multiple organ systems, including the brain, heart, skin, and musculoskeletal systems. The cardiac manifestations of Lyme disease typically present with atrioventricular nodal conduction abnormalities and, more rarely, myocarditis. We report a case of an immunocompromised 57-year-old woman who presented with acute onset shortness of breath, hypervolemia, injective conjunctiva, and global vision loss of the left eye in the setting of a recent tick bite. Serologic testing confirmed borreliosis, and cardiac testing demonstrated acute isolated systolic heart failure without any cardiac conduction system abnormalities on the electrocardiogram. The diagnosis of Lyme carditis was made, and the patient was started on doxycycline with complete recovery of cardiac systolic function. This case demonstrates atypical cardiac manifestations of Lyme disease and highlights the difficulty in workup and understanding of Lyme carditis particularly in immunocompromised patients.
PubMed: 38770473
DOI: 10.7759/cureus.58605 -
Clinical Case Reports May 2024Tumor-induced osteomalacia is a rare but potentially serious disease with nonspecific misguiding manifestations that can result in a wrong diagnosis and being treated...
KEY CLINICAL MESSAGE
Tumor-induced osteomalacia is a rare but potentially serious disease with nonspecific misguiding manifestations that can result in a wrong diagnosis and being treated for rheumatologic or other similar diseases. In patients with unexpected fractures, resistant musculoskeletal pains, and hypophosphatemia, this diagnosis should be considered by the physicians and approached through a complete history taking, physical exam laboratory, and radiologic evaluation to give the opportunity of on-time treatment to the patient.
ABSTRACT
Tumor-induced osteomalacia (TIO) is an uncommon mesenchymal tumor that results in disproportionate phosphorus excretion, primarily leading to bone-related symptoms. Laboratory, imaging, and histopathological evaluation can confirm this pathologic condition. In this case, we present the history and subsequent clinical parts of a 50-year-old woman who presented with an unusual presentation of generalized musculoskeletal pains and a right ankle mass. Her disease was diagnosed with multidisciplinary evaluation and was approached by a surgical treatment. The patient was treated with total resection of the tumor, which led to complete resolution of musculoskeletal and metabolic abnormalities, which were resolved following total tumor resection. TIO is a paraneoplastic disease that results in abnormal secretion of phosphatonins, particularly fibroblast growth factor 23 (FGF23). This can cause hypophosphatemia, hyperparathyroidism, lower bone density, and increased risk of pathologic fractures. These tumors are mostly cured by surgical ± radiotherapy. The present study aims to provide insight into the fact that a TIO diagnosis is not always straightforward. However, in suspicious cases such as unexplained hypophosphatemia, it should be considered to prevent delayed diagnosis of the progressive pathology. The earlier treatment can prevent several complications and reduce the risk of mortality.
PubMed: 38770413
DOI: 10.1002/ccr3.8885 -
MedRxiv : the Preprint Server For... May 2024The epigenome, including the methylation of cytosine bases at CG dinucleotides, is intrinsically linked to transcriptional regulation. The tight regulation of gene...
The epigenome, including the methylation of cytosine bases at CG dinucleotides, is intrinsically linked to transcriptional regulation. The tight regulation of gene expression during skeletal development is essential, with ~1/500 individuals born with skeletal abnormalities. Furthermore, increasing evidence is emerging to link age-associated complex genetic musculoskeletal diseases, including osteoarthritis (OA), to developmental factors including joint shape. Multiple studies have shown a functional role for DNA methylation in the genetic mechanisms of OA risk using articular cartilage samples taken from aged patients. Despite this, our knowledge of temporal changes to the methylome during human cartilage development has been limited. We quantified DNA methylation at ~700,000 individual CpGs across the epigenome of developing human articular cartilage in 72 samples ranging from 7-21 post-conception weeks, a time period that includes cavitation of the developing knee joint. We identified significant changes in 8% of all CpGs, and >9400 developmental differentially methylated regions (dDMRs). The largest hypermethylated dDMRs mapped to transcriptional regulators of early skeletal patterning including and . Conversely, the largest hypomethylated dDMRs mapped to genes encoding extracellular matrix proteins including and and were enriched in chondrocyte enhancers. Significant correlations were identified between the expression of these genes and methylation within the hypomethylated dDMRs. We further identified 811 CpGs at which significant dimorphism was present between the male and female samples, with the majority (68%) being hypermethylated in female samples. Following imputation, we captured the genotype of these samples at >5 million variants and performed epigenome-wide methylation quantitative trait locus (mQTL) analysis. Colocalization analysis identified 26 loci at which genetic variants exhibited shared impacts upon methylation and OA genetic risk. This included loci which have been previously reported to harbour OA-mQTLs (including and ), yet the majority (73%) were novel (including those mapping to and ). To our knowledge, this is the first extensive study of DNA methylation across human articular cartilage development. We identify considerable methylomic plasticity within the development of knee cartilage and report active epigenomic mediators of OA risk operating in prenatal joint tissues.
PubMed: 38766055
DOI: 10.1101/2024.05.05.24306832 -
Bioinformatics and Biology Insights 2024Gait analysis serves as a critical diagnostic tool for identifying neurologic and musculoskeletal damage. Traditional manual analysis of motion data, however, is...
Gait analysis serves as a critical diagnostic tool for identifying neurologic and musculoskeletal damage. Traditional manual analysis of motion data, however, is labor-intensive and heavily reliant on the expertise and judgment of the therapist. This study introduces a binary classification method for the quantitative assessment of gait impairments, specifically focusing on Duchenne muscular dystrophy (DMD), a prevalent and fatal neuromuscular genetic disorder. The research compares spatiotemporal and sagittal kinematic gait features derived from 2D and 3D human pose estimation trajectories against concurrently recorded 3D motion capture (MoCap) data from healthy children. The proposed model leverages a novel benchmark dataset, collected from YouTube and publicly available datasets of their typically developed peers, to extract time-distance variables (e.g. speed, step length, stride time, and cadence) and sagittal joint angles of the lower extremity (e.g. hip, knee, and knee flexion angles). Machine learning and deep learning techniques are employed to discern patterns that can identify children exhibiting DMD gait disturbances. While the current model is capable of distinguishing between healthy subjects and those with DMD, it does not specifically differentiate between DMD patients and patients with other gait impairments. Experimental results validate the efficacy of our cost-effective method, which relies on recorded RGB video, in detecting gait abnormalities, achieving a prediction accuracy of 96.2% for Support Vector Machine (SVM) and 97% for the deep network.
PubMed: 38757143
DOI: 10.1177/11779322241231108 -
Strategies in Trauma and Limb... 2024Computerised hexapod-assisted orthopaedic surgery (CHAOS) is a method by which complex multiplanar, multilevel deformity can be corrected with a high degree of accuracy...
INTRODUCTION
Computerised hexapod-assisted orthopaedic surgery (CHAOS) is a method by which complex multiplanar, multilevel deformity can be corrected with a high degree of accuracy utilising minimally invasive techniques within a single operative event. This study's aim was to report the reliability, accuracy and magnitude of correction achieved, alongside patient-reported outcomes and risk factors for complications when using the CHAOS technique throughout the lower limb.
MATERIALS AND METHODS
Retrospective review of medical records and radiographs for consecutive patients who underwent CHAOS for lower limb deformity correction at a tertiary centre between 2012 and 2020.
RESULTS
There were 70 cases in 56 patients, with the site of surgery being the femur in 48 cases, proximal tibia in 17 and distal tibia in 5 cases. Multiplanar correction was performed in 43 cases, and multilevel osteotomy was undertaken in 23 cases. Fixation was undertaken with intramedullary nailing (IMN) in 49 cases and locked plates in 21.The maximum corrections were 40° rotation, 20° coronal angulation, 51° sagittal angulation and 62-mm mechanical axis deviation (MAD). Deformity correction was mechanically satisfactory in all patients bar one who was undercorrected requiring revision. The mean patient global impression of change (PGIC) score was 6.2 out of 7.Overall complication rate was 12/70 (17%). Complications from femoral surgery included two nonunions, one case of undercorrection, one case of stiffness, one muscle hernia and one pulmonary embolism. Complications from tibial surgery were one compartment syndrome, one pseudoaneurysm of the anterior tibial artery requiring stenting, one transient neurapraxia of the common peroneal nerve, one locking plate fatigue failure, one seroma and one superficial wound infection.
CONCLUSION
Computerised hexapod-assisted orthopaedic surgery can be used for accurate correction of complex multilevel and multiplanar deformities of both the femur and tibia. The risk profile appears to differ between femoral and tibial surgeries, and also to that of traditional circular frame correction. Patients remain highly satisfied with both the functional and symptomatic outcomes.
HOW TO CITE THIS ARTICLE
French JMR, Filer J, Hogan K, . Computer Hexapod-assisted Orthopaedic Surgery for the Correction of Multiplanar Deformities throughout the Lower Limb. Strategies Trauma Limb Reconstr 2024;19(1):9-14.
PubMed: 38752186
DOI: 10.5005/jp-journals-10080-1608 -
Strategies in Trauma and Limb... 2024Limb reconstruction surgery (LRS) has a wide range of clinical applications within orthopaedic and trauma surgery. We sought a consensus view from limb reconstruction...
INTRODUCTION
Limb reconstruction surgery (LRS) has a wide range of clinical applications within orthopaedic and trauma surgery. We sought a consensus view from limb reconstruction healthcare practitioners across the United Kingdom to help guide research priorities within LRS. Our aim is to guide future clinical research in LRS, and assist healthcare practitioners, clinical academics, and funding bodies in identifying key research priorities to improve patient care.
MATERIALS AND METHODS
A modified Delphi approach was used; it involved an initial scoping survey and a 2-round Delphi process to identify the consensus research priorities in both adult and paediatric LRS. Participants were asked to rank approved submitted questions according to perceived importance on a 5-point Likert scale, where 1 represented lowest importance and 5 indicated highest importance. Mean scores were calculated to identify a consensus of the top ten research priorities for adult and paediatric LRS.
RESULTS
One hundred and fifteen participants primarily from across the United Kingdom working in LRS contributed to the modified Delphi process. Participants ranked and then re-ranked the presented research topics in terms of perceived importance. This led to the identification of a top ten research priorities in both adult and paediatric LRS, respectively, based on the collective responses of LRS practitioners. The highest-ranked questions in both adult and paediatric practice related to how to best assess and record patient-reported outcome measures (PROMs) in LRS patients. Other priorities included the effectiveness of specialist physiotherapy, the use of patient-focused psychological support, and the use of various operative management strategies for infection and limb length discrepancies.
CONCLUSION
We present a consensus-driven research priority study that outlines the key research topics and themes determined by healthcare professionals within LRS in the United Kingdom.
CLINICAL SIGNIFICANCE
These questions will assist funding bodies in prioritising where research funding may be best utilised and help drive future improvement in patient care.
HOW TO CITE THIS ARTICLE
British Limb Reconstruction Society Research Collaborative. Identifying Research Priorities in Limb Reconstruction Surgery in the United Kingdom. Strategies Trauma Limb Reconstr 2024;19(1):1-8.
PubMed: 38752185
DOI: 10.5005/jp-journals-10080-1598 -
BMC Medical Imaging May 2024Spinal deformations, except for acute injuries, are among the most frequent reasons for visiting an orthopaedic specialist and musculoskeletal treatment in adults and...
BACKGROUND
Spinal deformations, except for acute injuries, are among the most frequent reasons for visiting an orthopaedic specialist and musculoskeletal treatment in adults and adolescents. Data on the morphology and anatomical structures of the spine are therefore of interest to orthopaedics, physicians, and medical scientists alike, in the broad field from diagnosis to therapy and in research.
METHODS
Along the course of developing supplementary methods that do not require the use of ionizing radiation in the assessment of scoliosis, twenty CT scans from females and males with various severity of spinal deformations and body shape have been analysed with respect to the transverse distances between the vertebral body and the spinous process end tip and the skin, respectively, at thoracic and lumbar vertebral levels. Further, the locations of the vertebral bodies have been analysed in relation to the patient's individual body shape and shown together with those from other patients by normalization to the area encompassed by the transverse body contour.
RESULTS
While the transverse distance from the vertebral body to the skin varies between patients, the distances from the vertebral body to the spinous processes end tips tend to be rather similar across different patients of the same gender. Tables list the arithmetic mean distances for all thoracic and lumbar vertebral levels and for different regions upon grouping into mild, medium, and strong spinal deformation and according to the range of spinal deformation.
CONCLUSIONS
The distances, the clustering of the locations of the vertebral bodies as a function of the vertebral level, and the trends therein could in the future be used in context with biomechanical modeling of a patient's individual spinal deformation in scoliosis assessment using 3D body scanner images during follow-up examinations.
Topics: Humans; Male; Female; Thoracic Vertebrae; Tomography, X-Ray Computed; Lumbar Vertebrae; Adult; Adolescent; Scoliosis; Middle Aged; Aged; Young Adult
PubMed: 38745329
DOI: 10.1186/s12880-024-01293-6 -
Chemosphere Jul 2024Population declines were documented in multiple ruminant species in Montana and surrounding states starting in 1995. While weather, food sources, and predation certainly... (Review)
Review
Population declines were documented in multiple ruminant species in Montana and surrounding states starting in 1995. While weather, food sources, and predation certainly contributed, the declines were often attributed, at least partly, to unexplained factors. Use of teratogenic agrichemicals, notably neonicotinoid insecticides, fungicides, and glyphosate-based herbicides, massively increased regionally in 1994-96. The question explored in this review is whether this vastly increased use of these teratogenic pesticides might have contributed to observed population declines. We provide references and data documenting that specific developmental malformations on vertebrates can be associated with exposure to one or more of these agrichemicals. These pesticides are known to disrupt thyroid and other hormonal functions, mitochondrial functions, and biomineralization, all of which are particularly harmful to developing fetuses. Exposures can manifest as impaired embryonic development of craniofacial features, internal and reproductive organs, and musculoskeletal/integumental systems, often resulting in reproductive failure or weakened neonates. This paper reviews: a) studies of ruminant populations in the region, especially elk and white-tailed deer, prior to and after 1994; b) published and new data on underdeveloped facial bones in regional ruminants; c) published and new data on reproductive abnormalities in live and necropsied animals before and after 1994; and d) studies documenting the effects of exposures to three of the most applied teratogenic chemicals. While answers to the question posed above are complex and insufficient evidence is available for definitive answers, this review provides ideas for further consideration.
Topics: Animals; Ruminants; Teratogens; Pesticides; Population Dynamics; Deer; Herbicides; Environmental Pollutants; United States; Glyphosate
PubMed: 38735490
DOI: 10.1016/j.chemosphere.2024.142320 -
Sensors (Basel, Switzerland) May 2024Incorrect sitting posture, characterized by asymmetrical or uneven positioning of the body, often leads to spinal misalignment and muscle tone imbalance. The prolonged... (Review)
Review
Incorrect sitting posture, characterized by asymmetrical or uneven positioning of the body, often leads to spinal misalignment and muscle tone imbalance. The prolonged maintenance of such postures can adversely impact well-being and contribute to the development of spinal deformities and musculoskeletal disorders. In response, smart sensing chairs equipped with cutting-edge sensor technologies have been introduced as a viable solution for the real-time detection, classification, and monitoring of sitting postures, aiming to mitigate the risk of musculoskeletal disorders and promote overall health. This comprehensive literature review evaluates the current body of research on smart sensing chairs, with a specific focus on the strategies used for posture detection and classification and the effectiveness of different sensor technologies. A meticulous search across MDPI, IEEE, Google Scholar, Scopus, and PubMed databases yielded 39 pertinent studies that utilized non-invasive methods for posture monitoring. The analysis revealed that Force Sensing Resistors (FSRs) are the predominant sensors utilized for posture detection, whereas Convolutional Neural Networks (CNNs) and Artificial Neural Networks (ANNs) are the leading machine learning models for posture classification. However, it was observed that CNNs and ANNs do not outperform traditional statistical models in terms of classification accuracy due to the constrained size and lack of diversity within training datasets. These datasets often fail to comprehensively represent the array of human body shapes and musculoskeletal configurations. Moreover, this review identifies a significant gap in the evaluation of user feedback mechanisms, essential for alerting users to their sitting posture and facilitating corrective adjustments.
Topics: Humans; Sitting Position; Neural Networks, Computer; Monitoring, Physiologic; Posture
PubMed: 38733046
DOI: 10.3390/s24092940 -
Sensors (Basel, Switzerland) Apr 2024The biomechanical-model-based approach with a contact model offers advantages in estimating ground reaction forces (GRFs) and ground reaction moments (GRMs), as it does...
Multibody Model with Foot-Deformation Approach for Estimating Ground Reaction Forces and Moments and Joint Torques during Level Walking through Optical Motion Capture without Optimization Techniques.
The biomechanical-model-based approach with a contact model offers advantages in estimating ground reaction forces (GRFs) and ground reaction moments (GRMs), as it does not rely on the need for training data and gait assumptions. However, this approach faces the challenge of long computational times due to the inclusion of optimization processes. To address this challenge, the present study developed a new optical motion capture (OMC)-based method to estimate GRFs, GRMs, and joint torques without prolonged computational times. The proposed approach performs the estimation process by distributing external forces, as determined by a multibody model, between the left and right feet based on foot deformations, thereby predicting the GRFs and GRMs without relying on optimization techniques. In this study, prediction accuracies during level walking were confirmed by comparing a general analysis using a force plate with the estimation results. The comparison revealed excellent or strong correlations between the prediction and the measurements for all GRFs, GRMs, and lower-limb-joint torques. The proposed method, which provides practical estimation with low computational cost, facilitates efficient biomechanical analysis and rapid feedback of analysis results, contributing to its increased applicability in clinical settings.
PubMed: 38732898
DOI: 10.3390/s24092792