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Australasian Journal of Ultrasound in... May 2024Sternal pseudotumour is an important but rare entity thought to be an inflammatory, non-neoplastic lesion that can mimic tumours. The purpose of this paper was to...
INTRODUCTION
Sternal pseudotumour is an important but rare entity thought to be an inflammatory, non-neoplastic lesion that can mimic tumours. The purpose of this paper was to illustrate the imaging features of this lesion to avoid unnecessary investigations.
METHODS
The clinical notes and imaging features of four patients with a diagnosis of sternal pseudotumour were reviewed over a period from February 2016 to July 2019.
RESULTS
All patients were afebrile with no history of trauma. The median age at presentation was 12.5 months. The median length of symptoms prior to presentation was 3.5 days. One patient had a mildly elevated C-reactive protein. Chest radiographs showed a pre-sternal soft-tissue mass, with or without osseous destruction of the subjacent sternum. Ultrasound showed a heterogeneous, hypoechoic pre-sternal soft-tissue mass with variable internal vascularity with extension between sternal ossification centres. CT and MRI showed an enhancing dumbbell-shaped lesion with a pre-sternal and retro-sternal soft-tissue component. The median time to complete resolution was 3 months. One patient had a biopsy that showed chronic inflammation and fibrosis.
DISCUSSION
These lesions present in young children typically with a 1- to 2-week history of a focal 2- to 4-cm swelling over the sternum. The aetiology is unknown but may be on the basis of a yet-to-be identified pathogen. Inflammatory markers and cultures are normal or mildly elevated. Important differential considerations include sternal osteomyelitis or neoplastic causes such as Ewing sarcoma, rhabdomyosarcoma, Langerhans cell histiocytosis and infantile fibrosarcoma.
CONCLUSION
Sternal pseudotumor is a rare but important entity to be aware of to avoid unnecessary invasive biopsy or further investigations. Our suggestion is that this is a 'Don't touch' lesion that requires close short-interval follow-up at a surgical outpatient clinic and with ultrasound until resolution.
PubMed: 38784694
DOI: 10.1002/ajum.12376 -
Radiographics : a Review Publication of... 2021Type II collagen is a major component of the cartilage matrix. Pathogenic variants (ie, disease-causing aberrations) in the type II collagen gene lead to an abnormal...
Type II collagen is a major component of the cartilage matrix. Pathogenic variants (ie, disease-causing aberrations) in the type II collagen gene lead to an abnormal structure of type II collagen, causing a large group of skeletal dysplasias termed Because type II collagen is also located in the vitreous body of the eyes and inner ears, type II collagenopathies are commonly associated with vitreoretinal degeneration and hearing impairment. Type II collagenopathies can be radiologically divided into two major groups: the spondyloepiphyseal dysplasia congenita (SEDC) group and the Kniest-Stickler group. The SEDC group is characterized by delayed ossification of the juxtatruncal bones, including pear-shaped vertebrae. These collagenopathies comprise achondrogenesis type 2, hypochondrogenesis, SEDC, and other uncommon subtypes. The Kniest-Stickler group is characterized by disordered tubular bone growth that leads to "dumbbell" deformities. It comprises Kniest dysplasia and Stickler dysplasia type 1, whose radiographic manifestations overlap with those of type XI collagenopathies (a group of disorders due to abnormal type XI collagen) such as Stickler dysplasia types 2 and 3. This phenotypic overlap is caused by type II and type XI collagen molecules sharing part of the same connective tissues. The authors describe the diagnostic pathways to type II and type XI collagenopathies and the associated differential diagnoses. In addition, they review the clinical features and genetic bases of these conditions, which radiologists should know to participate in multidisciplinary care and translational research. RSNA, 2020.
Topics: Achondroplasia; Cartilage; Collagen Diseases; Humans; Hyaline Membrane Disease; Infant, Newborn; Osteochondrodysplasias
PubMed: 33186059
DOI: 10.1148/rg.2021200075 -
Biochemical and Biophysical Research... Mar 2020Metatropic dysplasia (MD) is a congenital skeletal dysplasia characterized by severe platyspondyly and dumbbell-like long-bone deformities. These skeletal phenotypes are...
Metatropic dysplasia (MD) is a congenital skeletal dysplasia characterized by severe platyspondyly and dumbbell-like long-bone deformities. These skeletal phenotypes are predominantly caused by autosomal dominant gain-of-function (GOF) mutations in transient receptor potential vanilloid 4 (TRPV4), which encodes a nonselective Ca-permeable cation channel. Previous studies have shown that constitutive TRPV4 channel activation leads to irregular chondrogenic proliferation and differentiation, and thus to the disorganized endochondral ossification seen in MD. Therefore, the present study investigated the role of TRPV4 in osteoblast differentiation and MD pathogenesis. Specifically, the behavior of osteoblasts differentiated from patient-derived dental pulp stem cells carrying a heterozygous single base TRPV4 mutation, c.1855C > T (p.L619F) was compared to that of osteoblasts differentiated from isogenic control cells (in which the mutation was corrected using the CRISPR/Cas9 system). The mutant osteoblasts exhibited enhanced calcification (indicated by intense Alizarin Red S staining), increased intracellular Ca levels, strongly upregulated runt-related transcription factor 2 and osteocalcin expression, and increased expression and nuclear translocation of nuclear factor-activated T cell c1 (NFATc1) compared to control cells. These results suggest that the analyzed TRPV4 GOF mutation disrupts osteoblastic differentiation and induces MD-associated disorganized endochondral ossification by increasing Ca/NFATc1 pathway activity. Thus, inhibiting the NFATc1 pathway may be a promising potential therapeutic strategy to attenuate skeletal deformities in MD.
Topics: Adolescent; Calcium; Cell Differentiation; Dental Pulp; Dwarfism; Gain of Function Mutation; Humans; Intracellular Space; NFATC Transcription Factors; Osteoblasts; Osteochondrodysplasias; Signal Transduction; Stem Cells; TRPV Cation Channels
PubMed: 31954514
DOI: 10.1016/j.bbrc.2019.12.123 -
Orthopaedic Surgery Feb 2020Metatropic dysplasia (MD), is a rare skeletal dysplasia occurring predominantly in infants characterized by a distinctive long torso and short limbs; it is as a result...
Metatropic dysplasia (MD), is a rare skeletal dysplasia occurring predominantly in infants characterized by a distinctive long torso and short limbs; it is as a result of mutations in the TRPV4 gene. However, a clear distinction between various forms of skeletal dysplasias caused by the transient receptor potential vanilloid 4 (TRPV4) gene is difficult but could be achieved by a combination of gene sequencing, medical and radiological criteria. We hereby report a case of a 14-month old girl who presented with an abnormal stature. The diagnosis of nonlethal MD was confirmed by X-ray with dumbbell-shaped long bones, platyspondyly, and delayed carpal ossification, as well as broadened pelvis with marginally widened ilia, epiphyseal plates, and slightly flattened acetabula. Furthermore, gene sequencing confirmed gene mutation on exon 15 of the TRPV4 gene with a heterozygous missense mutation (c.2396C > T), but no mutation was present in her parents. Our findings recorded metatropic dysplasia with the c.2396C > T mutation in the TRPV4 gene in China. This mutation caused changes in amino acid of TRPV4, which can induce growth retardation in children.
Topics: Asian People; China; Dwarfism; Female; Humans; Infant; Osteochondrodysplasias; Radiography
PubMed: 31808622
DOI: 10.1111/os.12546 -
Biochemistry and Biophysics Reports Sep 2019Metatropic dysplasia is a congenital skeletal dysplasia characterized by severe platyspondyly, dumbbell-like deformity of long tubular bones, and progressive...
Metatropic dysplasia is a congenital skeletal dysplasia characterized by severe platyspondyly, dumbbell-like deformity of long tubular bones, and progressive kyphoscoliosis with growth. It is caused by mutations in the gene , encoding the transient receptor potential vanilloid 4, which acts as a calcium channel. Many heterozygous single base mutations of this gene have been associated with the disorder, showing autosomal dominant inheritance. Although abnormal endochondral ossification has been observed by histological examination of bone in a patient with lethal metatropic dysplasia, the etiology of the disorder remains largely unresolved. As dental pulp stem cells (DPSCs) are mesenchymal stem cells that differentiate into bone lineage cells, DPSCs derived from patients with congenital skeletal dysplasia might be useful as a disease-specific cellular model for etiological investigation. The purpose of this study was to clarify the pathological association between mutation and chondrocyte differentiation by analyzing DPSCs from a patient with non-lethal metatropic dysplasia. We identified a novel heterozygous single base mutation, c.1855C>T in . This was predicted to be a missense mutation, p.L619F, in putative transmembrane segment 5. The mutation was repaired by CRISPR/Cas9 system to obtain isogenic control DPSCs for further analysis. The expression of stem cell markers and fibroblast-like morphology were comparable between patient-derived mutant and control DPSCs, although expression of TRPV4 was lower in mutant DPSCs than control DPSCs. Despite the lower TRPV4 expression in mutant DPSCs, the intracellular Ca level was comparable at the basal level between mutant and control DPSCs, while its level was markedly higher following stimulation with 4α-phorbol 12,13-didecanoate (4αPDD), a specific agonist for TRPV4, in mutant DPSCs than in control DPSCs. In the presence of 4αPDD, we observed accelerated early chondrocyte differentiation and upregulated mRNA expression of SRY-box 9 () in mutant DPSCs. Our findings suggested that the novel missense mutation c.1855C>T of was a gain-of-function mutation leading to enhanced intracellular Ca level, which was associated with accelerated chondrocyte differentiation and upregulation. Our results also suggest that patient-derived DPSCs can be a useful disease-specific cellular model for elucidating the pathological mechanism of metatropic dysplasia.
PubMed: 31463371
DOI: 10.1016/j.bbrep.2019.100648 -
Journal of Orthopaedic Surgery and... Oct 2016A lot of advantages can result in a high wettability as well as a nanostructure at a titanium surface on bone implants. Thus, the aim of this study was to evaluate the...
BACKGROUND
A lot of advantages can result in a high wettability as well as a nanostructure at a titanium surface on bone implants. Thus, the aim of this study was to evaluate the osseointegrative potential of a titan plasma-sprayed (TPS) surface refinement by acid-etching with chromosulfuric acid. This results in a hyperhydrophilic surface with a nanostructure and an extreme high wetting rate.
METHODS
In total, 72 dumbbell shape titan implants were inserted in the spongy bone of the femora of 18 Göttingen minipigs in a conservative gap model. Thirty-six titan implants were coated with a standard TPS surface and 36 with the hyperhydrophilic chromosulfuric acid (CSA) surface. After a healing period of 4, 8, and 12 weeks, the animals were killed. The chronological healing process was histomorphometrically analyzed.
RESULTS
The de novo bone formation, represented by the bone area (BA), is increased by approximately 1.5 times after 12 weeks with little additional benefit by use of the CSA surface. The bone-to-implant contact (BIC), which represents osseoconductive forces, shows results with a highly increased osteoid production in the CSA implants beginning at 8 and 12 weeks compared to TPS. This culminates in a 17-fold increase in BIC after a healing period of 12 weeks. After 4 weeks, significantly more osteoid was seen in the gap as de novo formation in the CSA group (p = 0.0062). Osteoid was also found more frequently after 12 weeks at the CSA-treated surface (p = 0.0355). The site of implantation, intertrochanteric or intercondylar, may influence on the de novo bone formation in the gap.
CONCLUSIONS
There is a benefit by the CSA surface treatment of the TPS layer for osseointegration over an observation time up to 12 weeks. Significant differences were able to be shown in two direct comparisons between the CSA and the TPS surface for osteoid formation in the gap model. Further trials may reveal the benefit of the CSA treatment of the TPS layer involving mechanical tests if possible.
Topics: Animals; Coated Materials, Biocompatible; Female; Femur; Implants, Experimental; Microscopy, Electron, Scanning; Models, Animal; Nanostructures; Osseointegration; Osteogenesis; Stress, Mechanical; Surface Properties; Swine; Swine, Miniature; Titanium
PubMed: 27751181
DOI: 10.1186/s13018-016-0434-6 -
Reproductive Toxicology (Elmsford, N.Y.) Dec 2015Classification of substances as teratogenic is based on the observation of external, visceral and skeletal anomalies. Characterization of anomalies as variation or... (Comparative Study)
Comparative Study
Classification of substances as teratogenic is based on the observation of external, visceral and skeletal anomalies. Characterization of anomalies as variation or malformation is contingent upon their postnatal persistence and adversity to health. Lack of information thereof may result in inconsistent or incorrect classification. The aim of this work is the examination of vertebral skeletal anomalies regarding their postnatal fate on PNDs 7 and 21. The anomalies unossified, asymmetric ossification, bipartite ossification, hemicentric, as well as misshapen, did not persist up to PND21 and should be classified as a variation. The finding, cervical vertebra centrum dumbbell-shaped, should be categorized as a malformation due to its continued presence on PND 21. Lumbar centrum supernumerary sinister/dexter/sinister+dexter should also be classified as a malformation. This study demonstrates that postnatal examination is useful and substantially improves the ability to perform a scientifically sound classification of an anomaly compared to investigations terminated on GD 21.
Topics: Abnormalities, Drug-Induced; Age Factors; Animals; Female; Floxuridine; Gestational Age; Male; Pregnancy; Prenatal Exposure Delayed Effects; Rats, Wistar; Risk Assessment; Spine; Teratogens; Terminology as Topic; Toxicology
PubMed: 26216787
DOI: 10.1016/j.reprotox.2015.07.078 -
Journal of Bone and Mineral Research :... Aug 2014Activating mutations in transient receptor potential vanilloid family member 4 (Trpv4) are known to cause a spectrum of skeletal dysplasias ranging from autosomal...
Activating mutations in transient receptor potential vanilloid family member 4 (Trpv4) are known to cause a spectrum of skeletal dysplasias ranging from autosomal dominant brachyolmia to lethal metatropic dysplasia. To develop an animal model of these disorders, we created transgenic mice expressing either wild-type or mutant TRPV4. Mice transgenic for wild-type Trpv4 showed no morphological changes at embryonic day 16.5 but did have a delay in bone mineralization. Overexpression of a mutant TRPV4 caused a lethal skeletal dysplasia that phenocopied many abnormalities associated with metatropic dysplasia in humans, including dumbbell-shaped long bones, a small ribcage, abnormalities in the autopod, and abnormal ossification in the vertebrae. The difference in phenotype between embryos transgenic for wild-type or mutant Trpv4 demonstrates that an increased amount of wild-type protein can be tolerated and that an activating mutation of this protein is required to produce a skeletal dysplasia phenotype.
Topics: Animals; Bone Development; Bone Diseases, Developmental; Chondrocytes; Gene Expression; Genetic Diseases, Inborn; Humans; Male; Mice; Mice, Transgenic; TRPV Cation Channels; Up-Regulation
PubMed: 24644033
DOI: 10.1002/jbmr.2220 -
Biomaterials Feb 2012We herein report a material technique to control the shapes of cell nuclei by the design of the microtopography of substrates to which the cells adhere....
We herein report a material technique to control the shapes of cell nuclei by the design of the microtopography of substrates to which the cells adhere. Poly(D,L-lactide-co-glycolide) (PLGA) micropillars or micropits of a series of height or depth were fabricated, and some surprising self deformation of the nuclei of bone marrow stromal cells (BMSCs) was found in the case of micropillars with a sufficient height. Despite severe nucleus deformation, BMSCs kept the ability of proliferation and differentiation. We further demonstrated that the shapes of cell nuclei could be regulated by the appropriate micropillar patterns. Besides circular and elliptoid shapes, some unusual nucleus shapes of BMSCs have been achieved, such as square, cross, dumbbell, and asymmetric sphere-protrusion.
Topics: Animals; Animals, Newborn; Bone Marrow Cells; Cell Differentiation; Cell Nucleus; Cell Nucleus Shape; Cell Proliferation; Lactic Acid; Microscopy, Electron, Scanning; Microscopy, Phase-Contrast; Osteogenesis; Polyglycolic Acid; Polylactic Acid-Polyglycolic Acid Copolymer; Polymers; Rats; Rats, Sprague-Dawley; Stromal Cells; Surface Properties; Tetrazolium Salts; Thiazoles; Time Factors
PubMed: 22133552
DOI: 10.1016/j.biomaterials.2011.11.023 -
Neuroradiology Dec 2010Metaplastic ossification is a rare event in nasal polyps. The purpose of this study was to review the computed tomography (CT) and magnetic resonance (MR) imaging...
INTRODUCTION
Metaplastic ossification is a rare event in nasal polyps. The purpose of this study was to review the computed tomography (CT) and magnetic resonance (MR) imaging findings of nasal polyps with metaplastic ossification.
METHODS
CT (n=5) and MR (n=3) images of five patients (four men and one woman; mean age, 59 years) with surgically proven nasal polyp with metaplastic ossification were retrospectively reviewed. The location and morphologic characteristics of metaplastic ossification were documented as well.
RESULTS
All lesions were seen as lobulated (n=3), ovoid (n=1), or dumbbell-shaped (n=1) benign-looking masses with a mean size of 3.7 cm (range, 2.4-6.5 cm), located unilaterally in the posterior nasal cavity and nasopharynx (n=2), posterior nasoethmoidal tract (n=2), and maxillary sinus and nasal cavity (n=1). Compared with the brain stem, the soft tissue components of all lesions demonstrated isoattenuation on precontrast CT scans, slight hypointensity on T1-weighted MR images, and hyperintensity on T2-weighted MR images. On contrast-enhanced MR images, heterogeneous enhancement with marked peripheral enhancement was seen in two and homogeneous moderate enhancement in one. All lesions contained centrally located radiodense materials on CT scans, the shape of which was multiple clustered in three, single nodular in one, and single large lobulated in one.
CONCLUSION
Although rare, metaplastic ossification can occur within nasal polyps. The possibility of its diagnosis may be raised when one sees a benign-looking sinonasal mass with centrally located radiodense materials on CT scans. MR imaging may be useful when mycetoma or inverted papilloma cannot be ruled out on CT scans.
Topics: Female; Humans; Magnetic Resonance Imaging; Male; Metaplasia; Middle Aged; Nasal Polyps; Ossification, Heterotopic; Tomography, X-Ray Computed
PubMed: 20717820
DOI: 10.1007/s00234-010-0758-6