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Frontiers in Endocrinology 2024Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease caused by mutations in genes responsible for the formation and development of...
INTRODUCTION
Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease caused by mutations in genes responsible for the formation and development of adipocytes. Bone abnormalities are described. However, there is a scarcity of data.
OBJECTIVE
To describe bone characteristics in a large CGL1 and 2 case series.
METHODS
Cross-sectional study that assessed bone radiological features of CGL patients of a reference hospital in Fortaleza (CE), Brazil. Patients underwent clinical and bone mineral metabolism evaluation, radiographs of the axial and appendicular skeleton and bone mineral density (BMD) assessment by DEXA (dual energy X-ray absorptiometry).
RESULTS
Nineteen patients were included, fourteen were CGL1 and 5, CGL2. Median age was 20 years (8-42) and 58% were women. Median BMI and percentage of body fat were, respectively, 21 Kg/m² (16-24), and 10.5% (7.6-15). The median leptin concentration was 1 ng/mL (0.1-3.3). Diabetes mellitus and dyslipidemia were present in 79% and 63% of patients, respectively. Median calcium and phosphate were normal in almost all patients (95%). Median parathyroid hormone and 25-OH-vitamin D were 23 pg/mL (7-75) and 28 ng/mL (18-43). Osteolytic lesions, osteosclerosis and pseudo-osteopoikylosis, were present in 74%, 42% and 32% of patients, respectively. Lytic lesions were found predominantly in the extremities of long bones, bilaterally and symmetrically, spine was spared. Osteosclerosis was present in axial and appendicular skeleton. Pseudo-osteopoikilosis was found symmetrically in epiphyses of femur and humerus, in addition to the pelvis. BMD Z-score greater than +2.5 SD was observed in 13 patients (68.4%). BMD was higher in CGL1 compared to CGL2 in lumbar spine and total body in adults. No associations were found between high BMD and HOMA-IR (p=0.686), DM (p=0.750), osteosclerosis (p=0.127) or pseudo-osteopoikilosis (p=0.342), and, between pain and bone lesions. Fractures were found in 3 patients.
CONCLUSION
Bone manifestations are prevalent, heterogeneous, and silent in CGL1 and CGL2. Osteolytic lesions are the most common, followed by osteosclerosis and pseudo-osteopoikilosis. Bone mass is high in most cases. There was no pain complaint related to bone lesions. Thus, systematic assessment of bone manifestations in CGL is essential. Studies are needed to better understand its pathogenesis and clinical consequences.
Topics: Adult; Humans; Female; Young Adult; Male; Bone Density; Lipodystrophy, Congenital Generalized; Osteopoikilosis; Prevalence; Cross-Sectional Studies; Lumbar Vertebrae; Osteosclerosis; Bone Diseases
PubMed: 38633760
DOI: 10.3389/fendo.2024.1326700 -
BMC Musculoskeletal Disorders Apr 2024To assess the clinical safety, accuracy, and efficacy of percutaneous kyphoplasty (PKP) surgery using an enhanced method of unilateral puncture on the convex side for...
PURPOSE
To assess the clinical safety, accuracy, and efficacy of percutaneous kyphoplasty (PKP) surgery using an enhanced method of unilateral puncture on the convex side for the treatment of painful osteoporotic vertebral compression fractures (P-OVCF) with scoliosis.
METHODS
Clinical and radiographic data of P-OVCF patients with scoliosis who underwent PKP via unilateral puncture on the convex side from January 2018 to December 2021 were retrospectively analyzed. This technique's detailed surgical steps and tips were described. The local kyphosis angle (LKA), scoliosis Cobb angle (SCA), and local scoliosis Cobb angle (LSCA) were measured using X-ray and compared at pre-operation, post-operation, and the last follow-up. The width of pedicle (POW), inner inclination angle (IIA), lateral distance (LD), and puncture course length (PCL) were measured on the axial computed tomography image and compared between two sides. Postoperative computed tomography was employed to evaluate the condition of cement distribution and puncture. Clinical outcomes were evaluated using the Oswestry Disability Index (ODI) and Visual Analog Scale (VAS) for back pain (BP).
RESULTS
Thirty-six patients, 23 women and 13 men, with an average age of 76.31 ± 6.28 years were monitored for 17.69 ± 4.70 months. The median surgical duration of single vertebrae was 35 min. The volume of bone cement for single vertebrae was 3.81 ± 0.87 ml and the proportion of sufficient cement distribution of the patients was 97.22. LKA was considerably improved from pre-operation to post-operation and sustained at the last follow-up. SCA and LSCA were not significantly modified between these three-time points. IIA, PCL, and LD were lower on the convex side than on the concave side. POW was considerably wider on the convex side. The ODI and VAS-BP scores were significantly improved after surgery and sustained during the follow-up.
CONCLUSIONS
Combining with the proper assessment of the pre-injured life status of patients, PKP surgery using unilateral puncture on the convex side for the treatment of P-OVCF with scoliosis can achieve safe, excellent clinical, and radiographic outcomes.
Topics: Male; Humans; Female; Aged; Aged, 80 and over; Kyphoplasty; Fractures, Compression; Scoliosis; Retrospective Studies; Spinal Fractures; Treatment Outcome; Spine; Bone Cements; Punctures; Kyphosis; Osteoporotic Fractures
PubMed: 38627655
DOI: 10.1186/s12891-024-07399-w -
BMC Oral Health Apr 2024The aim of this study is to evaluate the biomechanical behavior of the mesial and distal off-axial extensions of implant-retained prostheses in the posterior maxilla...
BACKGROUND
The aim of this study is to evaluate the biomechanical behavior of the mesial and distal off-axial extensions of implant-retained prostheses in the posterior maxilla with different prosthetic materials using finite element analysis (FEA).
METHODS
Three dimensional (3D) finite element models with three implant configurations and prosthetic designs (fixed-fixed, mesial cantilever, and distal cantilever) were designed and modelled depending upon cone beam computed tomography (CBCT) images of an intact maxilla of an anonymous patient. Implant prostheses with two materials; Monolithic zirconia (Zr) and polyetherketoneketone (PEKK) were also modeled .The 3D modeling software Mimics Innovation Suite (Mimics 14.0 / 3-matic 7.01; Materialise, Leuven, Belgium) was used. All the models were imported into the FE package Marc/Mentat (ver. 2015; MSC Software, Los Angeles, Calif). Then, individual models were subjected to separate axial loads of 300 N. Von mises stress values were computed for the prostheses, implants, and bone under axial loading.
RESULTS
The highest von Mises stresses in implant (111.6 MPa) and bone (100.0 MPa) were recorded in distal cantilever model with PEKK material, while the lowest values in implant (48.9 MPa) and bone (19.6 MPa) were displayed in fixed fixed model with zirconia material. The distal cantilever model with zirconia material yielded the most elevated levels of von Mises stresses within the prosthesis (105 MPa), while the least stresses in prosthesis (35.4 MPa) were recorded in fixed fixed models with PEKK material.
CONCLUSIONS
In the light of this study, the combination of fixed fixed implant prosthesis without cantilever using a rigid zirconia material exhibits better biomechanical behavior and stress distribution around bone and implants. As a prosthetic material, low elastic modulus PEKK transmitted more stress to implants and surrounding bone especially with distal cantilever.
Topics: Humans; Finite Element Analysis; Dental Implants; Maxilla; Dental Prosthesis, Implant-Supported; Dental Stress Analysis; Stress, Mechanical; Zirconium
PubMed: 38622680
DOI: 10.1186/s12903-024-04142-8 -
Sensors (Basel, Switzerland) Mar 2024Frontal and axial knee motion can affect the accuracy of the knee extension/flexion motion measurement using a wearable goniometer. The purpose of this study was to test...
Frontal and axial knee motion can affect the accuracy of the knee extension/flexion motion measurement using a wearable goniometer. The purpose of this study was to test the hypothesis that calibrating the goniometer on an individual's body would reduce errors in knee flexion angle during gait, compared to bench calibration. Ten young adults (23.2 ± 1.3 years) were enrolled. Knee flexion angles during gait were simultaneously assessed using a wearable goniometer sensor and an optical three-dimensional motion analysis system, and the absolute error (AE) between the two methods was calculated. The mean AE across a gait cycle was 2.4° (0.5°) for the on-body calibration, and the AE was acceptable (<5°) throughout a gait cycle (range: 1.5-3.8°). The mean AE for the on-bench calibration was 4.9° (3.4°) (range: 1.9-13.6°). Statistical parametric mapping (SPM) analysis revealed that the AE of the on-body calibration was significantly smaller than that of the on-bench calibration during 67-82% of the gait cycle. The results indicated that the on-body calibration of a goniometer sensor had acceptable and better validity compared to the on-bench calibration, especially for the swing phase of gait.
Topics: Young Adult; Humans; Calibration; Knee Joint; Optical Devices; Gait; Wearable Electronic Devices
PubMed: 38610306
DOI: 10.3390/s24072092 -
JBMR Plus May 2024Osteitis of the sternocostoclavicular (SCC) region, referred to as sternocostoclavicular hyperostosis (SCCH), is the clinical expression of chronic non-bacterial...
Osteitis of the sternocostoclavicular (SCC) region, referred to as sternocostoclavicular hyperostosis (SCCH), is the clinical expression of chronic non-bacterial osteitis (CNO) in adults with this rare chronic auto-inflammatory disorder of the axial skeleton. The diagnosis is based on distinctive computerized tomography (CT) features of sclerosis and hyperostosis of the SCC region, and local increases in osteoid formation visualized by high radiopharmacon uptake on skeletal scintigraphy but clear radiologic diagnostic criteria are lacking. In a cross-sectional study, CT scans and whole-body skeletal scintigraphy images obtained in 169 patients seen at the Center for Bone Quality of the Leiden University Medical Center between 2008 and 2018 with a suspected diagnosis of CNO of the SCC region were re-evaluated by 2 skeletal radiologists and 2 nuclear physicians. The diagnosis was confirmed in 118 (70%) predominantly female patients ( = 103, 89.2%); median age at first symptoms 45 years (range 20-73). The diagnosis was excluded in the remaining 51 "non-CNO" patients. Increased radiopharmacon uptake at the SCC region was observed in 82% CNO patients, with the manubrium sterni having the highest predictive ability to discriminate on both imaging modalities. The prevalence of sclerosis of the clavicles, manubrium and first ribs was significantly higher in CNO patients ( < 0.001). Hyperostosis was not observed in non-CNO patients. 46 CNO versus only 2 non-CNO patients had costoclavicular ligament calcification. Our findings identify CT scan features of sclerosis and hyperostosis of manubrium sterni, medial end of clavicles and first ribs, and calcification of costoclavicular ligaments, associated with increased tracer uptake on skeletal scintigraphy at the SCC region, specifically manubrium sterni, as well-defined imaging diagnostic criteria for adult CNO. Pitfalls encountered in the diagnosis of CNO are highlighted. These defined imaging diagnostic criteria for adult CNO should facilitate the diagnosis of this rare auto-inflammatory bone disease across the spectrum of its early to late stages.
PubMed: 38606147
DOI: 10.1093/jbmrpl/ziae024 -
RMD Open Apr 2024
PubMed: 38599657
DOI: 10.1136/rmdopen-2022-002822corr1 -
Proceedings. Biological Sciences Apr 2024The repeated returns of vertebrates to the marine ecosystems since the Triassic serve as an evolutionary model to understand macroevolutionary change. Here we...
The repeated returns of vertebrates to the marine ecosystems since the Triassic serve as an evolutionary model to understand macroevolutionary change. Here we investigate the effects of the land-to-sea transition on disparity and constraint of the vertebral column in aquatic carnivorans (Carnivora; Pinnipedia) to assess how their functional diversity and evolutionary innovations influenced major radiations of crown pinnipeds. We use three-dimensional geometric morphometrics and multivariate analysis for high-dimensional data under a phylogenetic framework to quantify vertebral size and shape in living and extinct pinnipeds. Our analysis demonstrates an important shift in vertebral column evolution by 10-12 million years ago, from an unconstrained to a constrained evolutionary scenario, a point of time that coincides with the major radiation of crown pinnipeds. Moreover, we also demonstrate that the axial skeleton of phocids and otariids followed a different path of morphological evolution that was probably driven by their specialized locomotor strategies. Despite this, we found a significant effect of habitat preference (coastal versus pelagic) on vertebral morphology of crown taxa regardless of the family they belong. In summary, our analysis provides insights into how the land-to-sea transition influenced the complex evolutionary history of pinniped vertebral morphology.
Topics: Animals; Caniformia; Phylogeny; Ecosystem; Carnivora; Spine; Biological Evolution
PubMed: 38593849
DOI: 10.1098/rspb.2023.2752 -
RMD Open Apr 2024Radiography and MRI of the sacroiliac joints (SIJ) are relevant for the diagnosis and classification of patients with axial spondyloarthritis (axSpA). This study aimed...
OBJECTIVES
Radiography and MRI of the sacroiliac joints (SIJ) are relevant for the diagnosis and classification of patients with axial spondyloarthritis (axSpA). This study aimed to evaluate the impact of clinical information (CI) on the accuracy of imaging interpretation.
METHODS
Out of 109 patients referred because of suspicion of axSpA with complete imaging sets (radiographs and MRI of SIJ), 61 were diagnosed with axSpA (56%). Images were independently evaluated by three radiologists in four consecutive reading campaigns: radiographs and radiographs+MRI without and with CI including demographic data, SpA features, physical activity and pregnancy. Radiographs were scored according to the modified New York criteria, and MRIs for inflammatory and structural changes compatible with axSpA (yes/no). The clinical diagnosis was taken as reference standard. The compatibility of imaging findings with a diagnosis of axSpA (precision) before and after the provision of CI and radiologists' confidence with their findings (0-10) were evaluated.
RESULTS
The precision of radiographs evaluation without versus with CI increased from 70% to 78% (p=0.008), and for radiographs+MRI from 81% to 82% (p=1.0), respectively. For CR alone, the sensitivity and specificity of radiologic findings were 51% and 94% without and 60% and 100% with CI, while, for radiographs+MRI, they were 74% and 90% vs 71% and 98%, respectively. The diagnostic confidence of radiologists increased from 5.2±1.9 to 6.0±1.7 with CI for radiographs, and from 6.7±1.6 to 7.2±1.6 for radiographs+MRI, respectively.
CONCLUSION
The precision, specificity and diagnostic confidence of radiologic evaluation increased when CI was provided.
Topics: Humans; Sacroiliac Joint; Spondylarthritis; Radiography; Spondylitis, Ankylosing; Axial Spondyloarthritis
PubMed: 38580341
DOI: 10.1136/rmdopen-2023-004044 -
Scientific Reports Apr 2024This retrospective study aimed to investigate the impact of lumbar disc herniation (LDH) on vertebral axial rotation (VAR) in the lumbar spine, focusing on both close...
This retrospective study aimed to investigate the impact of lumbar disc herniation (LDH) on vertebral axial rotation (VAR) in the lumbar spine, focusing on both close and distant neighboring vertebrae. A total of 516 patients with LDH and an equal number of healthy individuals were included in the study, matched for age and gender. The degree of axial rotation for each lumbar spine vertebra was assessed using the Nash-Moe index. The results revealed that the prevalence of VAR in the lumbar spine was significantly higher in the LDH group compared to the Control group (65.7% vs 46.7%, P < 0.001). Among the LDH group, the L2 vertebra had the highest frequency of VAR (49.5%), followed by L1 (45.1%), and then L3 to L5 (33.6%, 8.9%, 3.1%, respectively). A similar pattern was observed in the Control group (L2, 39.8%; L1, 34.6%; L3, 23.2%; L4, 3.1%; L5, 0.8%). Furthermore, the study found that disc herniation was associated with a higher incidence of VAR not only in close neighboring vertebrae but also in distant neighboring vertebrae. This indicates that the biomechanical influence of LDH extends beyond just the immediate adjacent vertebrae. To identify potential risk factors for VAR in LDH patients, multivariate analysis was performed. The results revealed that age was an independent risk factor for VAR (OR 1.022, 95% CI [1.011, 1.034], P < 0.001). However, the duration of symptoms and presence of back pain were not found to be significant risk factors for VAR.
Topics: Humans; Biomechanical Phenomena; Intervertebral Disc Displacement; Lumbar Vertebrae; Prevalence; Retrospective Studies; Risk Factors
PubMed: 38575582
DOI: 10.1038/s41598-024-55826-8 -
Magnetic Resonance Imaging Jul 2024High quality scan prescription that optimally covers the area of interest with scan planes aligned to relevant anatomical structures is crucial for error-free radiologic...
PURPOSE
High quality scan prescription that optimally covers the area of interest with scan planes aligned to relevant anatomical structures is crucial for error-free radiologic interpretation. The goal of this project was to develop a machine learning pipeline for oblique scan prescription that could be trained on localizer images and metadata from previously acquired MR exams.
METHODS
A novel Multislice Rotational Region-based Convolutional Neural Network (MS-RCNN) architecture was developed. Based on this architecture, models for automated prescription sagittal lumbar spine acquisitions from axial, sagittal, and coronal localizer slices were trained. The automated prescription pipeline was integrated with the scanner console software and evaluated in experiments with healthy volunteers (N = 3) and patients with lower-back pain (N = 20).
RESULTS
Experiments in healthy volunteers demonstrated high accuracy of automated prescription in all subjects. There was good agreement between alignment and coverage of manual and automated prescriptions, as well as consistent views of the lumbar spine at different positions of the subjects within the scanner bore. In patients with lower-back pain, the generated prescription was applied in 18 cases (90% of the total number). None of the cases required major adjustment, while in 11 cases (55%) there were minor manual adjustments to the generated prescription.
CONCLUSIONS
This study demonstrates the ability of oriented object detection-based models to be trained to prescribe oblique lumbar spine MRI acquisitions without the need of manual annotation or feature engineering and the feasibility of using machine learning-based pipelines on the scanner for automated prescription of MRI acquisitions.
Topics: Humans; Magnetic Resonance Imaging; Machine Learning; Lumbar Vertebrae; Low Back Pain; Image Processing, Computer-Assisted; Male; Female; Adult; Healthy Volunteers; Neural Networks, Computer; Software; Middle Aged
PubMed: 38574982
DOI: 10.1016/j.mri.2024.03.041