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European Journal of Medical Genetics Jun 2024Nablus mask-like facial syndrome (NMFLS) is an extremely rare genetic syndrome characterized by facial dysmorphia as well as developmental delay. In the present report...
BACKGROUND
Nablus mask-like facial syndrome (NMFLS) is an extremely rare genetic syndrome characterized by facial dysmorphia as well as developmental delay. In the present report we describe a potential association between non-traumatic atlanto-occipital dislocation and NMFLS in an 11-year old female lacking typical facial features of NMFLS.
CASE DESCRIPTION
An 11-year-old female with autism presented with symptoms of persistent headache and vomiting as well as neck stiffness. Further investigation and CT imaging revealed congenital malformation of the skull base and craniocervical junction with complete posterior subluxation of the left occipital condyle. MRI findings later corroborated the findings on CT.
CONCLUSIONS
The patient was successfully treated with occipitocervical fusion. The findings in this case suggest the possibility that atlanto-occipital instability and generalized occipitocervical may be associated with NMFLS.
Topics: Humans; Female; Joint Dislocations; Child; Atlanto-Axial Joint; Atlanto-Occipital Joint
PubMed: 38729602
DOI: 10.1016/j.ejmg.2024.104947 -
Medicine May 2024Knee varus (KV) deformity leads to abnormal forces in the different compartments of the joint cavity and abnormal mechanical loading thus leading to knee osteoarthritis...
Knee varus (KV) deformity leads to abnormal forces in the different compartments of the joint cavity and abnormal mechanical loading thus leading to knee osteoarthritis (KOA). This study used computer-aided design to create 3-dimensional simulation models of KOA with varying varus angles to analyze stress distribution within the knee joint cavity using finite element analysis for different varus KOA models and to compare intra-articular loads among these models. Additionally, we developed a cartilage loading model of static KV deformity to correlate with dynamic clinical cases of cartilage injury. Different KV angle models were accurately simulated with computer-aided design, and the KV angles were divided into (0°, 3°, 6°, 9°, 12°, 15°, and 18°) 7 knee models, and then processed with finite element software, and the Von-Mises stress distribution and peak values of the cartilage of the femoral condyles, medial tibial plateau, and lateral plateau were obtained by simulating the human body weight in axial loading while performing the static extension position. Finally, intraoperative endoscopy visualization of cartilage injuries in clinical cases corresponding to KV deformity subgroups was combined to find cartilage loading and injury correlations. With increasing varus angle, there was a significant increase in lower limb mechanical axial inward excursion and peak Von-Mises stress in the medial interstitial compartment. Analysis of patients' clinical data demonstrated a significant correlation between varus deformity angle and cartilage damage in the knee, medial plateau, and patellofemoral intercompartment. Larger varus deformity angles could be associated with higher medial cartilage stress loads and increased cartilage damage in the corresponding peak stress area. When the varus angle exceeds 6°, there is an increased risk of cartilage damage, emphasizing the importance of early surgical correction to prevent further deformity and restore knee function.
Topics: Humans; Osteoarthritis, Knee; Finite Element Analysis; Cartilage, Articular; Knee Joint; Male; Weight-Bearing; Biomechanical Phenomena; Middle Aged; Stress, Mechanical; Female; Computer Simulation; Aged
PubMed: 38728521
DOI: 10.1097/MD.0000000000038065 -
Joint Diseases and Related Surgery Apr 2024This study aims to assess the association between isolated subscapularis tears and coracoid morphology using magnetic resonance imaging (MRI) and to calculate the...
OBJECTIVES
This study aims to assess the association between isolated subscapularis tears and coracoid morphology using magnetic resonance imaging (MRI) and to calculate the optimal cut-off values of the significant predictor to predict subscapularis tears.
PATIENTS AND METHODS
Between January 2018 and December 2022, a total of 60 patients (29 males, 31 females; mean age: 58.4±8.4 years; range, 18 to 80 years) diagnosed with subscapularis tendon tears who were treated as Group A and 60 patients (29 males, 31 females; mean age: 46.8±11.5 years; range, 18 to 80 years) without subscapularis tendon tears who were treated as Group B were included. Axial coracoid-humeral distance (aCHD), sagittal coracoid-humeral distance (sCHD), coracoid overlap (CO) and coracoid angle (CA) of all patients were measured. Logistic regression was used to investigate the association between subscapularis tears as variables including aCHD, sCHD, CO and CA. Receiver operating characteristic curve analysis was used to determine the diagnostic values of coracoid morphology for subscapularis tears.
RESULTS
The mean values of CO, aCHD and sCHD in Group A were 22.16 mm, 5.13 mm, and 5.56 mm, respectively. The mean values in Group B were 16.99 mm, 7.18 mm, and 7.29 mm, respectively. The degree of CA in Group A was 95.81 and 111.69 in Group B. The differences in the above measurement values were significant between two Groups. The CO was found to be associated with higher odds of subscapularis tears. The optimal cut-off value of CO was 19.79 mm.
CONCLUSION
Based on our study results, CO is positively associated with isolated subscapularis tears. In addition, coracoid bursa effusion, cysts in the lesser tuberosity or a tear and malposition of long head of the biceps tendon on MRI may predict the presence of a clinically significant subscapularis tear.
Topics: Humans; Male; Female; Magnetic Resonance Imaging; Middle Aged; Adult; Aged; Adolescent; Coracoid Process; Young Adult; Aged, 80 and over; Rotator Cuff Injuries; China; Retrospective Studies; East Asian People
PubMed: 38727104
DOI: 10.52312/jdrs.2024.1587 -
Endocrinology and Metabolism (Seoul,... Jun 2024Osteoporosis is the most common metabolic bone disease and can cause fragility fractures. Despite this, screening utilization rates for osteoporosis remain low among...
BACKGRUOUND
Osteoporosis is the most common metabolic bone disease and can cause fragility fractures. Despite this, screening utilization rates for osteoporosis remain low among populations at risk. Automated bone mineral density (BMD) estimation using computed tomography (CT) can help bridge this gap and serve as an alternative screening method to dual-energy X-ray absorptiometry (DXA).
METHODS
The feasibility of an opportunistic and population agnostic screening method for osteoporosis using abdominal CT scans without bone densitometry phantom-based calibration was investigated in this retrospective study. A total of 268 abdominal CT-DXA pairs and 99 abdominal CT studies without DXA scores were obtained from an oncology specialty clinic in the Republic of Korea. The center axial CT slices from the L1, L2, L3, and L4 lumbar vertebrae were annotated with the CT slice level and spine segmentation labels for each subject. Deep learning models were trained to localize the center axial slice from the CT scan of the torso, segment the vertebral bone, and estimate BMD for the top four lumbar vertebrae.
RESULTS
Automated vertebra-level DXA measurements showed a mean absolute error (MAE) of 0.079, Pearson's r of 0.852 (P<0.001), and R2 of 0.714. Subject-level predictions on the held-out test set had a MAE of 0.066, Pearson's r of 0.907 (P<0.001), and R2 of 0.781.
CONCLUSION
CT scans collected during routine examinations without bone densitometry calibration can be used to generate DXA BMD predictions.
Topics: Humans; Osteoporosis; Tomography, X-Ray Computed; Female; Absorptiometry, Photon; Bone Density; Retrospective Studies; Middle Aged; Male; Aged; Lumbar Vertebrae; Mass Screening; Republic of Korea; Deep Learning
PubMed: 38721637
DOI: 10.3803/EnM.2023.1860 -
Archives of Oral Biology Aug 2024This study aimed to investigate the relationship between the aspect ratios of mandibular molar roots at the apical 3-mm level and their root canal complexity.
OBJECTIVES
This study aimed to investigate the relationship between the aspect ratios of mandibular molar roots at the apical 3-mm level and their root canal complexity.
DESIGN
This study used micro-CT imaging to analyze 163 two-rooted mandibular molars. The aspect ratios of the roots at the apical 3-mm level were categorized as "< 2.75" or "≥ 2.75" (mesial) and "< 1.75" or "≥ 1.75" (distal). A two-dimensional (2D) analysis focused on four apical axial cross-section levels to determine the presence of main and accessory canals and isthmus. Additionally, a three-dimensional (3D) assessment of the apical 4-mm of both roots examined main and accessory canals, apical foramina, apical deltas, and middle mesial canals.
RESULTS
Mesial roots with aspect ratios ≥ 2.75 showed a higher number of main canals at all levels compared to those with aspect ratios < 2.75 at the 3-mm level. Additionally, the ≥ 2.75 group exhibited more accessory canals and a higher average number of accessory canals. The 3D assessment confirmed significantly more accessory canals and apical foramina in the ≥ 2.75 group. The prevalence of roots with apical deltas was nearly double in the ≥ 2.75 group, and middle mesial canals were exclusively found in this group. In the distal root, the ≥ 1.75 group showed a significantly higher number of main canals at all axial levels. No significant differences were observed between groups in terms of accessory canals, apical foramina, or deltas.
CONCLUSIONS
A higher root aspect ratio is related to higher anatomical complexity.
Topics: X-Ray Microtomography; Humans; Molar; Mandible; Tooth Root; Dental Pulp Cavity; Imaging, Three-Dimensional; Tooth Apex
PubMed: 38718467
DOI: 10.1016/j.archoralbio.2024.105983 -
Bone Reports Jun 2024The hypothalamus and dorsal vagal complex (DVC) are both important for integration of signals that regulate energy balance. Increased leptin transgene expression in...
The hypothalamus and dorsal vagal complex (DVC) are both important for integration of signals that regulate energy balance. Increased leptin transgene expression in either the hypothalamus or DVC of female rats was shown to decrease white adipose tissue and circulating levels of leptin and adiponectin. However, in contrast to hypothalamus, leptin transgene expression in the DVC had no effect on food intake, circulating insulin, ghrelin and glucose, nor on thermogenic energy expenditure. These findings imply different roles for hypothalamus and DVC in leptin signaling. Leptin signaling is required for normal bone accrual and turnover. Leptin transgene expression in the hypothalamus normalized the skeletal phenotype of leptin-deficient / mice but had no long-duration (≥10 weeks) effects on the skeleton of leptin-replete rats. The goal of this investigation was to determine the long-duration effects of leptin transgene expression in the DVC on the skeleton of leptin-replete rats. To accomplish this goal, we analyzed bone from three-month-old female rats that were microinjected with recombinant adeno-associated virus encoding either rat leptin (rAAV-Leptin, = 6) or green fluorescent protein (rAAV-GFP, control, = 5) gene. Representative bones from the appendicular (femur) and axial (3rd lumbar vertebra) skeleton were evaluated following 10 weeks of treatment. Selectively increasing leptin transgene expression in the DVC had no effect on femur cortical or cancellous bone microarchitecture. Additionally, increasing leptin transgene expression had no effect on vertebral osteoblast-lined or osteoclast-lined bone perimeter or marrow adiposity. Taken together, the findings suggest that activation of leptin receptors in the DVC has minimal specific effects on the skeleton of leptin-replete female rats.
PubMed: 38706522
DOI: 10.1016/j.bonr.2024.101769 -
Molecular Biology Reports May 2024Ankylosing spondylitis (AS) is often regarded as the prototypical manifestation of spondylo-arthropathies that prevalently involves the axial skeleton with the potential...
A study of the association between single nucleotide polymorphisms of the endoplasmic reticulum aminopeptidase 2 (ERAP2) gene and the risk of ankylosing spondylitis in Egyptians.
BACKGROUND
Ankylosing spondylitis (AS) is often regarded as the prototypical manifestation of spondylo-arthropathies that prevalently involves the axial skeleton with the potential attribution of ERAP2 polymorphisms to AS predisposition. The purpose of this study was to determine the genetic association between ERAP2 gene rs2910686, and rs2248374 single nucleotide polymorphisms (SNPs) and the risk of ankylosing spondylitis in the Egyptian population.
METHODS AND RESULTS
A cross-sectional work involved 200 individuals: 100 AS individuals diagnosed based on modified New York criteria in 1984 with 100 healthy controls matched in age and gender. The study included a comprehensive evaluation of historical data, clinical examinations, and evaluation of the activity of the disease using the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI). A comprehensive laboratory and radiological evaluation were conducted, accompanied by an assessment and genotyping of the ERAP2 gene variants rs2248374 and rs2910686. This genotyping was performed utilizing a real-time allelic discrimination methodology.Highly statistically substantial variations existed among the AS patients and the healthy control group regarding rs2910686 and rs2248374 alleles. There was a statistically significant difference between rs2910686 and rs2248374 regarding BASDAI, BASFI, mSASSS, ASQoL, V.A.S, E.S.R, and BASMI in the active AS group.
CONCLUSIONS
ERAP2 gene SNPs have been identified as valuable diagnostic biomarkers for AS patients in the Egyptian population being a sensitive and non-invasive approach for AS diagnosis especially rs2910686. Highly statistically significant variations existed among the AS patients and the healthy control group regarding rs2910686 alleles and genotypes.Further research is recommended to explore the potential therapeutic implications of these SNPs.
Topics: Adult; Female; Humans; Male; Middle Aged; Alleles; Aminopeptidases; Case-Control Studies; Cross-Sectional Studies; Egypt; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; North African People; Polymorphism, Single Nucleotide; Spondylitis, Ankylosing
PubMed: 38704785
DOI: 10.1007/s11033-024-09404-w -
Journal of Orthopaedic Case Reports Apr 2024Ewing's sarcoma is the second most common primary malignant bone tumor in children and adolescents, after osteosarcoma. It is a rare tumor, with the axial skeleton being...
INTRODUCTION
Ewing's sarcoma is the second most common primary malignant bone tumor in children and adolescents, after osteosarcoma. It is a rare tumor, with the axial skeleton being the preferred site of development, followed by the long bones. Diagnosis is evoked by imaging and confirmed by histology. Treatment is based on intensive chemotherapy with local surgical treatment in operable forms, and in some cases, radiotherapy. There are only a few sporadic cases in the literature describing distal fibular localization.
CASE REPORT
We report the case of a 7-year-old child who presented with pain on the lateral aspect of the left ankle without local inflammatory signs. Radiological findings revealed a metaphyseal-diaphyseal osteolytic tissue process of the left fibula, and histology concluded that it was Ewing's sarcoma. We proceeded with neoadjuvant polychemotherapy followed by segmental resection of the distal fibula with an anteroexternal tibial rod, plus tibiotalar, and talocalcaneal arthrodesis without recourse to radiotherapy.
CONCLUSION
The management of Ewing's sarcoma is constantly evolving. Its distal fibular location in a growing limb makes it even more difficult. It must be personalized, multidisciplinary, and carried out in specialized centers.
PubMed: 38681924
DOI: 10.13107/jocr.2024.v14.i04.4350 -
Journal of Orthopaedic Case Reports Apr 2024Ankylosing spondylitis is a spondyloarthropathy that commonly involves the axial skeleton with predilection to the sacro-iliac joints and spine. The disease frequently...
INTRODUCTION
Ankylosing spondylitis is a spondyloarthropathy that commonly involves the axial skeleton with predilection to the sacro-iliac joints and spine. The disease frequently results in a smooth globular kyphotic deformity of the spine; however, a coronal plane scoliotic deformity is extremely rare. We present a unique case of scoliotic deformity in a patient diagnosed with ankylosing spondylitis. To the best of our knowledge, following a review of the literature, this appears to be the first report of this kind.
CASE REPORT
A 23-year-old male patient presented with chronic back pain, stiffness, and a truncal shift of the body. He had a rigid left-sided thoracolumbar curve measuring 41° with a coronal imbalance of 3.6 cm. We present a case report on scoliosis deformity correction performed with a four-level asymmetric pontes osteotomy using a bone scalpel with excellent correction of the scoliotic deformity that was well maintained at 2-year follow-up.
CONCLUSION
Scoliosis in ankylosing spondylitis has not been documented in literature. We report the complete correction of the deformity, which is well maintained at the 2-year follow-up.
PubMed: 38681911
DOI: 10.13107/jocr.2024.v14.i04.4398 -
Journal of Orthopaedic Surgery and... Apr 2024Osteosynthesis for sacroiliac joint (SIJ) diastasis using an iliosacral screw (ISS) and a trans-iliac-trans-sacral screw (TITSS) can be performed using a closed or an...
BACKGROUND
Osteosynthesis for sacroiliac joint (SIJ) diastasis using an iliosacral screw (ISS) and a trans-iliac-trans-sacral screw (TITSS) can be performed using a closed or an open method. However, no clear indication for open reduction has been established.
METHODS
Data on patients with unilateral traumatic SIJ diastasis who underwent ISS and TITSS fixation were retrospectively collected and separated into groups according to the reduction method: closed reduction group (C group) and open reduction group (O group). Demographic data and perioperative image assessments were compared between the groups. The critical distance of the SIJ was identified to elucidate the indication for open reduction of the diastatic SIJ.
RESULTS
Fifty-six patients met the inclusion criteria over a 3-year period. There was no significant difference in the reduction quality of pelvic ring injuries between the groups, according to Matta's and Lefaivre's criteria. The improvement in the SIJ distance was significantly greater in the O group than in the C group in the axial plane on multiplanar computed tomography (p = 0.021). This model predicted that a difference of > 3.71 mm between the injured and healthy SIJ was a recommended indication for open reduction, with an area under the curve of 0.791 (95% confidence interval 0.627-0.955, p = 0.004).
CONCLUSIONS
Open reduction for SIJ diastasis might achieve better reduction quality than does closed reduction in the axial plane in selected cases. When the difference between the injured and healthy SIJ was wider than 3.71 mm, open reduction was recommended for satisfactory radiological outcomes.
Topics: Humans; Sacroiliac Joint; Retrospective Studies; Male; Female; Bone Screws; Adult; Middle Aged; Fracture Fixation, Internal; Young Adult; Aged; Open Fracture Reduction
PubMed: 38678298
DOI: 10.1186/s13018-024-04759-z