ABSTRACT
INTRODUCTION: Multiple myeloma is a common plasma cell neoplasia usually accompanied by the formation of osteolytic foci, whereas osteosclerotic myeloma is a very rare form of plasma cell dyscrasia. When osteosclerotic myeloma is detected, osteosclerotic foci are usually part of the POEMS syndrome. Osteosclerotic myeloma without other manifestations of the POEMS syndrome is an unusual finding. CASE DESCRIPTION: In a 46-year-old woman, osteosclerotic changes of the temporoparietal region caused soft tissue induration over this lesion, which initiated further investigation. Imaging studies subsequently showed multiple osteosclerotic foci in the skull. Examination of blood proteins revealed 8â g/L of IgG-lambda monoclonal immunoglobulin, subclass IgG1. In search of the cause of the osteosclerotic changes, FDG-PET/CT was performed, which revealed no FDG accumulation, i.e., no other tumor (breast or stomach cancer). Low-dose CT showed irregular bone structure, but not significant osteolytic or osteosclerotic foci. To map the extent of osteosclerotic changes, NaF-PET/CT imagination followed, which revealed multiple spots with high fluoride accumulation. A parietal bone biopsy showed osteosclerosis with minor clonal plasma cell infiltration. Trepanobioptic bone marrow sampling revealed an infiltration of bone marrow with atypical plasma cells in 8%. Flow-cytometric examination of bone marrow showed 0,37% of plasma cells, however predominantly (91%) clonal with lambda expression. MRI of the brain identified asymptomatic meningeal thickening. There was no evidence of POEMS syndrome in the patient; thus, we concluded the diagnosis as monoclonal gammopathy of clinical significance with osteosclerosis which was previously termed osteosclerotic multiple myeloma. CONCLUSION: Monoclonal gammopathy of clinical significance (MGCS) with osteosclerotic skeletal changes, documented on CT and multiple foci with intensive osteoneogenesis, documented on NaF-PET/CT without evidence of POEMS syndrome, is an extremely rare form of plasma cell dyscrasia. This publication documents the unique clinical manifestations of IgG-lambda type plasma cell proliferation without signs of POEMS syndrome and the role of NaF-PET/CT imaging. Classification of this disease as MGSC with osteosclerotic manifestations is more consistent with the indolent nature of the disease with a significantly better prognosis, compared with multiple myeloma.
Subject(s)
Multiple Myeloma , Osteosclerosis , Humans , Middle Aged , Female , Osteosclerosis/diagnostic imaging , Osteosclerosis/etiology , Osteosclerosis/pathology , Multiple Myeloma/complications , Multiple Myeloma/pathology , Multiple Myeloma/diagnostic imaging , Positron Emission Tomography Computed Tomography , Paraproteinemias/complications , Paraproteinemias/pathologyABSTRACT
PURPOSE: Osteosclerotic images are known as an image appearance of occult femoral neck fractures in X-ray images. The aim of this study is to investigate frequency enhancement processing that improves the visibility of the osteosclerotic image. METHODS: We acquired three sclerotic bone images with different thicknesses, and self-made bone equivalent phantoms were set up on a pelvic phantom. The frequency processing type and high-density enhancement coefficients were applied to the X-ray images taken at RF-A(1.0, 2.0), C(2.0, 4.0), D(1.0), and H(2.0, 4.0). For the physical index, we compared the difference in signal values between the sclerotic and background normal bone. We evaluated the preference using Scheffé's paired comparison methods for the visual index. RESULTS: For the physical index, RF-C(4.0) had the most significant signal value difference for all 3 bone stiffness images. For the visual index, RF-C(4.0) showed the highest preference. CONCLUSION: Using frequency-enhanced processing, RF-C(4.0) was suggested to improve the visibility of the osteosclerosis image.
Subject(s)
Femoral Neck Fractures , Phantoms, Imaging , Femoral Neck Fractures/diagnostic imaging , Humans , Osteosclerosis/diagnostic imaging , Fractures, Closed/diagnostic imaging , Radiographic Image Enhancement/methodsABSTRACT
BACKGROUND: Bone tissue homeostasis relies on the coordinated activity of the bone-forming osteoblasts and bone-resorbing osteoclasts. Osteomesopyknosis is considered a distinctive rare sclerosing skeletal disorder of unelucidated pathophysiology and presumably autosomal dominant transmission. However, the causal genes are unknown. METHODS: We present a case report encompassing clinical assessments, imaging studies, and whole-exome sequencing analysis, complemented by functional in vitro experiments. RESULTS: This new case of osteomesopyknosis was associated with a missense ALOX5 variant predicted to induce protein misfolding and proteasomal degradation. Transfection experiments demonstrated that the variant was associated with reduced protein levels restored by proteasomal inhibition with bortezomib. Likewise, gene expression analysis showed that the mutated gene was associated with a decreased RANKL/OPG ratio, which is a critical driver of osteoclast precursor differentiation. CONCLUSION: Our data indicate impaired bone resorption as the underlying mechanism of this rare osteosclerosis, implicating ALOX5 pathogenic variants as potential etiological factors.
Subject(s)
Arachidonate 5-Lipoxygenase , Mutation, Missense , RANK Ligand , Female , Humans , Arachidonate 5-Lipoxygenase/genetics , Arachidonate 5-Lipoxygenase/metabolism , Osteoclasts/metabolism , Osteoclasts/pathology , Osteosclerosis/genetics , Osteosclerosis/pathology , Osteosclerosis/metabolism , RANK Ligand/metabolism , RANK Ligand/genetics , Signal Transduction , Middle AgedABSTRACT
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.
Subject(s)
Bone Diseases , Lipodystrophy, Congenital Generalized , Osteopoikilosis , Osteosclerosis , Adult , Humans , Female , Young Adult , Male , Bone Density , Lipodystrophy, Congenital Generalized/genetics , Prevalence , Cross-Sectional Studies , Lumbar Vertebrae , Osteosclerosis/geneticsABSTRACT
Raine syndrome (RNS) is a rare autosomal recessive osteosclerotic dysplasia. RNS is caused by loss-of-function disease-causative variants of the FAM20C gene that encodes a kinase that phosphorylates most of the secreted proteins found in the body fluids and extracellular matrix. The most common RNS clinical features are generalized osteosclerosis, facial dysmorphism, intracerebral calcifications and respiratory defects. In non-lethal RNS forms, oral traits include a well-studied hypoplastic amelogenesis imperfecta (AI) and a much less characterized gingival phenotype. We used immunomorphological, biochemical, and siRNA approaches to analyze gingival tissues and primary cultures of gingival fibroblasts of two unrelated, previously reported RNS patients. We showed that fibrosis, pathological gingival calcifications and increased expression of various profibrotic and pro-osteogenic proteins such as POSTN, SPARC and VIM were common findings. Proteomic analysis of differentially expressed proteins demonstrated that proteins involved in extracellular matrix (ECM) regulation and related to the TGFß/SMAD signaling pathway were increased. Functional analyses confirmed the upregulation of TGFß/SMAD signaling and subsequently uncovered the involvement of two closely related transcription cofactors important in fibrogenesis, Yes-associated protein (YAP) and transcriptional coactivator with PDZ-binding motif (TAZ). Knocking down of FAM20C confirmed the TGFß-YAP/TAZ interplay indicating that a profibrotic loop enabled gingival fibrosis in RNS patients. In summary, our in vivo and in vitro data provide a detailed description of the RNS gingival phenotype. They show that gingival fibrosis and calcifications are associated with, and most likely caused by excessed ECM production and disorganization. They furthermore uncover the contribution of increased TGFß-YAP/TAZ signaling in the pathogenesis of the gingival fibrosis.
Subject(s)
Abnormalities, Multiple , Adaptor Proteins, Signal Transducing , Cleft Palate , Dental Enamel Hypoplasia , Exophthalmos , Fibroblasts , Fibrosis , Gingiva , Osteosclerosis , Proteomics , Signal Transduction , Transcription Factors , Transforming Growth Factor beta , YAP-Signaling Proteins , Humans , Transforming Growth Factor beta/metabolism , Gingiva/metabolism , Gingiva/pathology , Proteomics/methods , Fibrosis/metabolism , YAP-Signaling Proteins/metabolism , YAP-Signaling Proteins/genetics , Osteosclerosis/metabolism , Osteosclerosis/genetics , Osteosclerosis/pathology , Adaptor Proteins, Signal Transducing/metabolism , Adaptor Proteins, Signal Transducing/genetics , Transcription Factors/metabolism , Transcription Factors/genetics , Dental Enamel Hypoplasia/metabolism , Dental Enamel Hypoplasia/genetics , Dental Enamel Hypoplasia/pathology , Fibroblasts/metabolism , Fibroblasts/pathology , Microcephaly/metabolism , Microcephaly/genetics , Microcephaly/pathology , Female , Transcriptional Coactivator with PDZ-Binding Motif Proteins/metabolism , Male , Trans-Activators/metabolism , Trans-Activators/genetics , Intracellular Signaling Peptides and Proteins/metabolism , Intracellular Signaling Peptides and Proteins/genetics , Casein Kinase I/metabolism , Casein Kinase I/genetics , Extracellular Matrix Proteins/metabolism , Extracellular Matrix Proteins/genetics , Amelogenesis Imperfecta/metabolism , Amelogenesis Imperfecta/genetics , Amelogenesis Imperfecta/pathology , Cells, CulturedABSTRACT
PURPOSE: Preoperative computed tomography (CT)-based navigation is used for cervical pedicle screw (CPS) insertion to mitigate the risk of spinal cord and vertebral artery injury. In vertebrae with osteosclerosis due to degeneration or other factors, however, probing may not proceed easily, with difficulty creating the CPS insertion hole. This study investigated the impact of osteosclerosis on the accuracy of CPS insertion. METHODS: A total of 138 patients with CPS inserted at the C3-C7 level using preoperative CT navigation were retrospectively analyzed. Pre- and postoperative CT was employed to investigate screw position and Hounsfield unit (HU) values at the lateral mass to evaluate the degree of osteosclerosis in the CPS insertion pathway. RESULTS: Among 561 CPS insertions, the Grade 3 perforation rate was 1.8%, and the Grade 2 or higher perforation rate was 8.0%. When comparing insertions with and without CPS perforation, HU values were significantly higher in the perforation group (578 ± 191 vs. 318 ± 191, p < 0.01). The frequency of CPS insertion into the mid-cervical spine was also significantly greater in the perforation group (68.9% vs. 62.5%, p < 0.01). Logistic regression analysis revealed that a high HU value at the lateral mass (odds ratio 1.09, 95% confidence interval: 1.07-1.11, p < 0.01) was a significant independent factor associated with CPS deviation. CONCLUSIONS: The screw perforation rate of Grade 2 or higher in CPS insertion using preoperative CT-based navigation was 8.0%. Since osteosclerosis was an independent factor related to CPS deviation, additional care may be required during insertion into affected vertebrae.
Subject(s)
Cervical Vertebrae , Osteosclerosis , Pedicle Screws , Tomography, X-Ray Computed , Humans , Male , Female , Cervical Vertebrae/surgery , Cervical Vertebrae/diagnostic imaging , Middle Aged , Aged , Retrospective Studies , Tomography, X-Ray Computed/methods , Adult , Osteosclerosis/diagnostic imaging , Osteosclerosis/surgery , Spinal Fusion/methods , Spinal Fusion/instrumentation , Spinal Fusion/adverse effects , Aged, 80 and over , Preoperative Care/methodsABSTRACT
With the goal of developing a high-performance organic solar cell, nine molecules of A2-D-A1-D-A2 type are originated in the current investigation. The optoelectronic properties of all the proposed compounds are examined by employing the DFT approach and the B3LYP functional with a 6-31G (d, p) basis set. By substituting the terminal moieties of reference molecule with newly proposed acceptor groups, several optoelectronic and photovoltaic characteristics of OSCs have been studied, which are improved to a significant level when compared with reference molecule, i.e., absorption properties, excitation energy, exciton binding energy, band gap, oscillator strength, electrostatic potential, light-harvesting efficiency, transition density matrix, open-circuit voltage, fill factor, density of states and interaction coefficient. All the newly developed molecules (P1-P9) have improved λmax, small band gap, high oscillator strengths, and low excitation energies compared to the reference molecule. Among all the studied compounds, P9 possesses the least binding energy (0.24 eV), P8 has high interaction coefficient (0.70842), P3 has improved electron mobility due to the least electron reorganization energy (λe = 0.009182 eV), and P5 illustrates high light-harvesting efficiency (0.7180). P8 and P9 displayed better Voc results (1.32 eV and 1.33 eV, respectively) and FF (0.9049 and 0.9055, respectively). Likewise, the phenomenon of charge transfer in the PTB7-Th/P1 blend seems to be a marvelous attempt to introduce them in organic photovoltaics. Consequently, the outcomes of these parameters demonstrate that adding new acceptors to reference molecule is substantial for the breakthrough development of organic solar cells (OSCs).
Subject(s)
Electrons , Osteosclerosis , Pyrroles , Humans , KetonesABSTRACT
A 30-yr-old man developed right lower leg pain and a palpable solid mass. Radiographic imaging revealed a periosteal reaction with an exostotic mass arising from the right distal fibula. Generalized skeletal osteosclerosis with periosteal reaction was discovered on a radiographic skeletal survey. A biopsy of the right fibular mass revealed reactive woven bone. The patient was referred to a metabolic bone disease clinic, where laboratory values were consistent with secondary hyperparathyroidism and increased bone turnover. A DXA bone density scan revealed high bone density, with an L1-4 spine Z-score of +9.3, a left femoral neck Z-score of +8.5, and a total hip Z-score of +6.5. A dental exam revealed generalized gingival inflammation, teeth mobility, generalized horizontal alveolar bone loss and widening of the periodontal ligament space, increased bone density around the teeth, and thickening of the radicular lamina dura. An extensive evaluation was performed, with the result of a single test revealing the diagnosis. The differential diagnoses of osteosclerosis affecting the skeleton, teeth, and oral cavity are discussed.
A 30-yr-old man developed, over a short period, pain in his lower right leg accompanied by a hard mass. He also reported weight loss and night sweats for the past 6 months. After evaluation by his primary physician, an X-ray was ordered that reported a bony mass arising from the right fibula bone. A biopsy was performed of the mass, but no evidence of cancer or any other specific abnormality was found. The patient was then referred to a bone disease specialty clinic. Laboratory tests revealed a large increase in how quickly the patient's skeleton was remodeling, affecting the balance of bone formation and removal involved in maintaining a healthy skeleton. A bone density scan reported that the patient had very dense bones. Other unusual changes were also discovered in a dental exam, suggesting bone thickening. After an extensive evaluation, a single blood test revealed the cause of the fibular bone mass and dense bones.
Subject(s)
Osteosclerosis , Humans , Osteosclerosis/diagnostic imaging , Osteosclerosis/pathology , Osteosclerosis/complications , Male , Adult , Bone Density , Absorptiometry, PhotonABSTRACT
Osteoarthritis (OA) is a common degenerative joint disease, and subchondral osteosclerosis is an important pathological change that occurs in its late stages. Cardamonin (CD) is a natural flavonoid isolated from Alpinia katsumadai that has anti-inflammatory activity. The objectives of this study were to investigate the therapeutic effects and potential mechanism of CD in regulating OA subchondral osteosclerosis at in vivo and in vitro settings. Eight-week-old male C57BL/6J mice were randomly divided into four groups: sham operation, anterior cruciate ligament transection (ACLT)-induced OA model, low-dose and high-dose CD treated ACLT-OA model groups. Histological assessment and immunohistochemical examinations for chondrocyte metabolism-related markers metalloproteinase-13, ADAMTS-4, Col II, and Sox-9 were performed. Microcomputed tomography was used to assess the sclerosis indicators in subchondral bone. Further, MC3T3-E1 (a mouse calvarial preosteoblast cell line) cells were treated with various concentrations of CD to reveal the influence and potential molecular pathways of CD in osteogenic differentiations. Animal studies suggested that CD alleviated the pathological changes in OA mice such as maintaining integrity and increasing the thickness of hyaline cartilage, decreasing the thickness of calcified cartilage, decreasing the Osteoarthritis Research Society International score, regulating articular cartilage metabolism, and inhibiting subchondral osteosclerosis. In vitro investigation indicated that CD inhibited alkaline phosphatase expression and production of calcium nodules during osteogenic differentiation of MC3T3-E1 cells. In addition, CD inhibited the expression of osteogenic differentiation-related indicators and Wnt/ß-catenin pathway-related proteins. In conclusion, CD inhibits osteogenic differentiation by downregulating Wnt/ß-catenin signaling and alleviating subchondral osteosclerosis in a mouse model of OA.
Subject(s)
Cell Differentiation , Chalcones , Mice, Inbred C57BL , Osteoarthritis , Osteogenesis , Osteosclerosis , Wnt Signaling Pathway , Animals , Male , Chalcones/pharmacology , Chalcones/therapeutic use , Osteogenesis/drug effects , Wnt Signaling Pathway/drug effects , Mice , Osteosclerosis/drug therapy , Osteoarthritis/drug therapy , Osteoarthritis/metabolism , Cell Differentiation/drug effects , Down-Regulation/drug effects , beta Catenin/metabolismABSTRACT
Idiopathic osteosclerosis (IO) are focal radiopacities of unknown etiology observed in the jaws. These radiopacities are incidentally detected on dental panoramic radiographs taken for other reasons. In this study, we investigated the performance of a deep learning model in detecting IO using a small dataset of dental panoramic radiographs with varying contrasts and features. Two radiologists collected 175 IO-diagnosed dental panoramic radiographs from the dental school database. The dataset size is limited due to the rarity of IO, with its incidence in the Turkish population reported as 2.7% in studies. To overcome this limitation, data augmentation was performed by horizontally flipping the images, resulting in an augmented dataset of 350 panoramic radiographs. The images were annotated by two radiologists and divided into approximately 70% for training (245 radiographs), 15% for validation (53 radiographs), and 15% for testing (52 radiographs). The study employing the YOLOv5 deep learning model evaluated the results using precision, recall, F1-score, mAP (mean Average Precision), and average inference time score metrics. The training and testing processes were conducted on the Google Colab Pro virtual machine. The test process's performance criteria were obtained with a precision value of 0.981, a recall value of 0.929, an F1-score value of 0.954, and an average inference time of 25.4 ms. Although radiographs diagnosed with IO have a small dataset and exhibit different contrasts and features, it has been observed that the deep learning model provides high detection speed, accuracy, and localization results. The automatic identification of IO lesions using artificial intelligence algorithms, with high success rates, can contribute to the clinical workflow of dentists by preventing unnecessary biopsy procedure.
Subject(s)
Deep Learning , Osteosclerosis , Humans , Artificial Intelligence , Radiography, Panoramic , Radiography , Contrast Media , Osteosclerosis/diagnostic imagingABSTRACT
The host environment is of critical importance for antibiotic efficacy. By impacting bacterial machineries, stresses encountered by pathogens during infection promote the formation of phenotypic variants that are transiently insensitive to the action of antibiotics. It is assumed that these recalcitrant bacteria-termed persisters-contribute to antibiotic treatment failure and relapsing infections. Recently, we demonstrated that host reactive nitrogen species (RNS) transiently protect persisters against the action of ß-lactam antibiotics by delaying their regrowth within host cells. Here, we discovered that RNS intoxication of persisters also collaterally sensitizing them to fluoroquinolones during infection, explaining the higher efficiency of fluoroquinolones against intramacrophage Salmonella. By reducing bacterial respiration and the proton-motive force, RNS inactivate the AcrAB efflux machinery of persisters, facilitating the accumulation of fluoroquinolones intracellularly. Our work shows that target inactivity is not the sole reason for Salmonella persisters to withstand antibiotics during infection, with active efflux being a major contributor to survival. Thus, understanding how the host environment impacts persister physiology is critical to optimize antibiotics efficacy during infection.
Subject(s)
Abnormalities, Multiple , Anti-Bacterial Agents , Cleft Palate , Exophthalmos , Fluoroquinolones , Microcephaly , Osteosclerosis , Anti-Bacterial Agents/pharmacology , Biological Transport , Monobactams , Proton-Motive ForceABSTRACT
CONTEXT: Osteopathia striata with cranial sclerosis (OSCS) is a rare bone disorder with X-linked dominant inheritance, characterized by a generalized hyperostosis in the skull and long bones and typical metaphyseal striations in the long bones. So far, loss-of-function variants in AMER1 (also known as WTX or FAM123B), encoding the APC membrane recruitment protein 1 (AMER1), have been described as the only molecular cause for OSCS. AMER1 promotes the degradation of ß-catenin via AXIN stabilization, acting as a negative regulator of the WNT/ß-catenin signaling pathway, a central pathway in bone formation. OBJECTIVE: In this study, we describe a Dutch adult woman with an OSCS-like phenotype, namely, generalized high bone mass and characteristic metaphyseal striations, but no genetic variant affecting AMER1. RESULTS: Whole exome sequencing led to the identification of a mosaic missense variant (c.876A > C; p.Lys292Asn) in CTNNB1, coding for ß-catenin. The variant disrupts an amino acid known to be crucial for interaction with AXIN, a key factor in the ß-catenin destruction complex. Western blotting experiments demonstrate that the p.Lys292Asn variant does not significantly affect the ß-catenin phosphorylation status, and hence stability in the cytoplasm. Additionally, luciferase reporter assays were performed to investigate the effect of p.Lys292Asn ß-catenin on canonical WNT signaling. These studies indicate an average 70-fold increase in canonical WNT signaling activity by p.Lys292Asn ß-catenin. CONCLUSION: In conclusion, this study indicates that somatic variants in the CTNNB1 gene could explain the pathogenesis of unsolved cases of osteopathia striata.
Subject(s)
Mosaicism , Osteosclerosis , beta Catenin , Humans , beta Catenin/genetics , beta Catenin/metabolism , Female , Osteosclerosis/genetics , Osteosclerosis/pathology , Mutation, Missense , Adult , Wnt Signaling Pathway/genetics , Middle Aged , Exome Sequencing , Tumor Suppressor Proteins , Adaptor Proteins, Signal TransducingABSTRACT
Bone development and lung function are integral to child and adolescent health. Both influence an individual's overall well-being and potentially affect long-term health. Utilizing a comprehensive dataset from the National Health and Nutrition Examination Survey, this study aims to elucidate the relationship between lung function and bone mineral density (BMD) in a representative sample of children and adolescents. The analysis covered 3410 participants aged 8 to 19 years. We employed weighted multivariate linear regression and restricted cubic spline curve visualizations to explore the intricate association between lung function metrics, particularly first-second expiratory volume 1 second/forced vital capacity ratio, and lumbar BMD. Our data indicated a positive association between lung function and lumbar BMD in children and adolescents. Specifically, higher lung function metrics were linked with increased lumbar BMD. This association was more pronounced in younger participants or those with a lower body mass index. A significant positive relationship exists between lung function and BMD in the pediatric population. Recognizing this association is crucial for holistic health strategies for children and adolescents. This study underscores the need for integrated health monitoring during formative years, which can influence health trajectories as these individuals transition to adulthood.
Subject(s)
Bone Density , Osteosclerosis , Child , Humans , Adolescent , Nutrition Surveys , Adolescent Health , Benchmarking , LungABSTRACT
Raine syndrome (MIM 259775) is a rare autosomal recessive disorder, first described by Raine et al. in 1989, with an estimated prevalence of <1/1,000,000. This is due to pathogenic variants in FAM20C characterized by osteosclerosis, typical craniofacial features, and brain calcifications. Here, we report a novel variant in FAM20C, describe a uniquely severe craniofacial and CNS phenotype of Raine syndrome, and correlate it with prenatal findings. Fetal phenotyping was based on ultrasound and MRI. Solo exome sequencing was performed from DNA extracted from postmortem skin biopsy. Targeted parental variant testing was subsequently performed. A homozygous missense variant NM_020223.4 (c.1445 G > A (p.Gly482Glu)) was identified in FAM20C associated with Raine syndrome. The infant had the characteristic dysmorphic features seen in Raine syndrome. He had particularly significant CNS manifestations consisting of multisuture craniosynostosis with protrusion of the brain parenchyma through fontanelles and cranial lacunae. Histological sections of the brain showed marked periventricular gliosis with regions of infarction, hemorrhage, and cavitation with global periventricular leukomalacia. Numerous dystrophic calcifications were diffusely present. Here, we demonstrate the identification of a novel variant in FAM20C in an infant with the characteristic features seen in Raine syndrome. The patient expands the characteristic phenotype of Raine syndrome to include a uniquely severe CNS phenotype, first identified on prenatal imaging.
Subject(s)
Abnormalities, Multiple , Brain Diseases , Cleft Palate , Craniofacial Abnormalities , Exophthalmos , Microcephaly , Osteosclerosis , Synostosis , Male , Infant , Humans , Pregnancy , Female , Extracellular Matrix Proteins/genetics , Casein Kinase I/genetics , Osteosclerosis/diagnostic imaging , Osteosclerosis/genetics , Brain/diagnostic imaging , Phenotype , Synostosis/complications , SkullABSTRACT
Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant sclerosing osteodysplasia, due to AMER1 pathogenic variants. Characteristic features include craniofacial sclerosis and long-bone metaphyseal striations. Moyamoya disease (a type of progressive cerebral vasculopathy) and other types of cerebral vascular disease are not currently clearly associated with OSCS (except for two separate case reports), and can often first present with stroke. Through informal networks with UK-based bone experts and the UK skeletal dysplasia group, three cases from the UK and Ireland were identified. Medical literature was also reviewed to identify the known cases of OSCS with the described complications. We report four females, in whom OSCS and cerebral vasculopathy co-exist, with varying clinical outcomes. There appears to be an emerging association between OSCS and cerebral vasculopathy, which pre-disposes patients to stroke. Given this, screening OSCS patients for cerebral vasculopathy may be of value, especially pre-surgery. Further research regarding optimal screening and management is needed. The mechanism of cerebral vasculopathy and its progression remain unclear.
Subject(s)
Moyamoya Disease , Osteosclerosis , Stroke , Female , Humans , Moyamoya Disease/complications , Moyamoya Disease/diagnosis , Moyamoya Disease/genetics , Osteosclerosis/diagnosisABSTRACT
Background: Idiopathic osteosclerosis (IO) is an area of enlarged bone production in the jaw that usually appears radiopaque and round, elliptical, or irregular in shape. Condensing osteitis (CO) is a focalized osseous reaction leading to periapical sclerotic bone growth. Objective: The aim of this study was to investigate the prevalence, localization, shape, and dental relationship of IO and CO in a group of Lebanese patients and to correlate these findings to age and gender. Methods: 520 digital panoramic radiographs of patients (215 men and 305 women) ranging in age from 18 to 77 (mean age 40.89 years) who visited the Faculty of Dental Medicine, Lebanese University, for dental treatment were included in this study and assessed for IO and CO. The prevalence of the two lesions according to gender and age, as well as their localization, and dental relationship, were recorded and saved in an Excel sheet. Results: Among the 520 radiographs, 47 (9%) showed IO, and 30 (5.8%) showed CO. Both lesions are more frequent among females in their third decade and are essentially found in the mandible, mainly in relation to the root apices. Conclusion: Within the limits of this study, we concluded that in our sample of the Lebanese population, the prevalence of IO and CO is low and supports the theory that IO can be defined as developmental variations of normal bony architecture unrelated to a local stimulant, and CO could be considered reactive bone formations related to pulpitis, deep restoration, or caries.
Subject(s)
Osteitis , Osteosclerosis , Male , Humans , Female , Adult , Osteitis/diagnostic imaging , Osteitis/epidemiology , Mandible/diagnostic imaging , Osteosclerosis/diagnostic imaging , Osteosclerosis/epidemiology , Prevalence , RadiographyABSTRACT
Objective: The aim of this study was to update the concepts of the diagnosis of idiopathic osteosclerosis (IO) of the jaws by digital panoramic radiographs and cone beam tomography and describe the impact of this disease on oral and general health. Methods: A search of the main databases of dental medical research was carried out using the search terms "osteosclerosis, panoramic radiography, cone beam computed tomography, jaws". Articles without language restriction until September 30, 2020 were identified. The prevalence and clinical and radiographic characteristics of IO of the jaws were examined in 2D and 3D imaging studies, as well as the interaction during treatments in the various dental specialties. Results: We analyzed the current situation regarding the diagnosis of IO, with an update of the diagnostic criteria used to accurately identify IO in the latest generation imaging studies, as well determine its possible interactions in oral an general health. Conclusions: It is important to have a clear differential diagnosis of IO and be able to distinguish different radiopacities in the maxilla. Accurate reporting and monitoring of the morphometric characteristics are necessary taking into account the impact the presence of IO of the jaws has on future dental treatments. (AU)
Objetivo: El propósito de esta investigación fue actualizar las consideraciones para el diagnóstico de la osteoesclerosis idiopática en radiografías panorámicas digitales y tomografías de haz cónico, a fin de determinar sus implicancias en la salud oral y general. Métodos: Se realizó las pesquisas en las principales bases de datos de investigación médica estomatológica, utilizando las palabras "osteoesclerosis", "radiografía panorámica", "tomografía computarizada de haz cónico" y "mandíbula". Se identificaron artículos sin restricción de idioma, desde las primeras publicaciones hasta el 30 de septiembre del 2020. Se examinaron la prevalencia, las características clínicas y radiográficas en estudios imagenológicos de dos y tres dimensiones, así como su interacción durante los tratamientos realizados en las diversas especialidades estomatológicas. Resultados: La información obtenida nos permitió analizar la situación actual con respecto al diagnóstico de la OI y actualizar los criterios diagnósticos para una identificación certera de la OI en los estudios imagenológicos de última generación, así como sus posibles interacciones en la salud oral y general. Conclusiones: Es importante tener un criterio diagnóstico diferencial claro al distinguir las diferentes radiopacidades como la OI, que se pueden presentar en los maxilares, mediante un registro preciso de sus características morfométricas y seguimiento en el tiempo, teniendo en cuenta su existencia y sus implicancias en los tratamientos dentales a futuro. (AU)
Subject(s)
Humans , Osteosclerosis , Radiography, Panoramic , Diagnosis, Differential , Cone-Beam Computed Tomography , MandibleABSTRACT
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Subject(s)
Humans , Male , Adult , Erdheim-Chester Disease/diagnostic imaging , Erdheim-Chester Disease/genetics , Femur/diagnostic imaging , Tibia/diagnostic imaging , Erdheim-Chester Disease/pathology , Femur/pathology , Tibia/pathology , Biopsy , Osteosclerosis/genetics , Osteosclerosis/pathology , Histiocytosis/pathology , Leg Bones/pathologyABSTRACT
Objetivo: Determinar la frecuencia de la osteoesclerosis idiopática (OI) y la osteítis condensante (OC) en radiografías panorámicas. Metodología: Se estudiaron 1500 radiografías panorámicas de pacientes de ambos sexos, con edades cronológicas entre 20 y 88 años. Se identificó la presencia de condensaciones óseas (CO); la distribución de acuerdo con la edad, el sexo, la localización y la relación con los dientes; y si eran solitarias o múltiples. Resultados: Se observaron 183 CO, con una prevalencia del 12,4%. Del total de casos, 113 correspondieron al sexo femenino (61,7%) y 70 al masculino (38,2%). La OI fue verificada en 127 sujetos (8,5% del total de la muestra), mientras que 56 presentaron OC (3,7%). La OI fue más frecuente entre la tercera y cuarta décadas de vida, mientras que se verificó un mayor número de OC por encima de los 40 años (p = 0,002). Respecto del sexo, ambos tipos de CO fueron más frecuentes en las mujeres, lo que fue estadísticamente significativo (p = 0,005). Las CO se localizaron con mayor frecuencia en la zona molar derecha, molar izquierda y premolar derecha; en cuanto a la relación con los dientes, fueron observadas en un número más alto en apical, separadas y en la zona apical e interradicular. La presentación única de las CO fue más prevalente según el sexo o el grupo etario. Conclusiones: Las características radiográficas de las CO estudiadas permiten distinguirlas de otras patologías. Su alta prevalencia indica que deben ser consideradas en el manejo clínico del paciente para orientar un plan de tratamiento adecuado. (AU)
Objective:To determine the frequency of idiopathic osteoesclerosis (IO) and condensing osteitis (CO) in panoramic radiographs. Methodology: 1500 panoramic radiographs of patients of both sexes, with chronological ages between 20 and 88 years, were studied. The presence of bone condensations (BC), distribution according to age, sex, location, relationship with the teeth, and whether they were solitary or multiple were evaluated. Results: 183 BC (12.4%) were observed with 113 in women (61.7%) and 70 in men (38.2%). IO was verified in 127 subjects (8.5% of the total sample), while 56 presented CO (3.7%). IO was more frequent between the third and fourth decade of life, while a greater number of CO was found over 40 years of age (p = 0.002); regarding sex, both types of BC were significantly more frequent in women (p = 0.005). BC were more frequently located in the right molar, left molar, and right premolar zone; Regarding the relationship with the teeth, a higher number of BC were observed in the apical, separated and in the apical and interradicular areas. The single presentation of BC was more prevalent considering sex or age. Conclusions: BC can be differentiated from other pathologies based on the radiographic characteristics. Taking into account, the high prevalence of BC, they should be considered in the clinical management of patients in order to guide adequate treatment planning. (AU)