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Scientific Reports Jun 2023Few articles have reported on the treatment of Masada type 2 forearm deformities in hereditary multiple exostosis, possibly because of the high redislocation rate and...
Few articles have reported on the treatment of Masada type 2 forearm deformities in hereditary multiple exostosis, possibly because of the high redislocation rate and other complications. This study precisely declares the use of modified ulnar lengthening by an Ilizarov external fixation with tumour excision for the treatment of Masada type 2 forearm deformities. 20 children with Masada type 2 forearm deformities were admitted for surgical treatment at our hospital from February 2014 to February 2021. There were 13 girls and 7 boys, ranging in age from 3.5 to 15 years (mean: 9 years) at the time of operation. We removed the prominent osteochondromas of the distal ulna and the proximal radius, positioned a classic Ilizarov external fixator on the forearm and then performed ulnar transverse one-third proximal diaphyseal subperiosteal osteotomy. We adopted modified ulnar lengthening postoperatively. The effects of surgical correction of deformity and functional improvement of the limb were assessed via regular follow-up and X-ray. The patients were followed up for 36 months, and the ulna was lengthened 26.99 mm on average; all radial heads remained relocated. The radiographic evaluations, including relative ulnar shortening, radial articular angle, and carpal slip, were improved. The functions of the elbow and forearm were all improved after surgery. Modified ulnar lengthening by an Ilizarov external fixation with tumour excision for the treatment of Masada type 2 forearm deformities in hereditary multiple exostoses has been proven to be an effective and reliable technique in the early stage.
Topics: Male; Child; Female; Humans; Child, Preschool; Adolescent; Exostoses, Multiple Hereditary; Forearm; Epiphyses; Bone Neoplasms; Ulna
PubMed: 37386285
DOI: 10.1038/s41598-023-37532-z -
Medicina 2023
Topics: Humans; Exostoses, Multiple Hereditary; Spinal Canal
PubMed: 37379552
DOI: No ID Found -
Annals of Medicine and Surgery (2012) Jun 2023Osteochondroma is a benign cartilaginous tumor that usually arises from the growth plate of the long bones. Its presentation in flat bones is uncommon. Spinal...
Osteochondroma is a benign cartilaginous tumor that usually arises from the growth plate of the long bones. Its presentation in flat bones is uncommon. Spinal osteochondroma is a rare case, with only a 4% incidence compared to all spinal neoplasms. We report an unusual case of osteochondroma at the spinous process of the C4 spine of a 15-year-old patient with the chief complaint of neck discomfort on movement. The patient has previously been diagnosed and treated for multiple hereditary exostoses of other bones. The patient underwent surgery for the current lesion with complete excision to the base of the lesion. Histopathology revealed a benign osteochondroma with a thin layer of cartilaginous cap. The patient was healed uneventfully and had no recurrence of the lesion on the same site at the 1-year follow-up. Surgical resection remains the mainstay treatment of osteochondroma and has proved to the low recurrence. In the case of cervical osteochondroma, surgery is advisable, particularly in symptomatic patients, to prevent complications.
PubMed: 37363606
DOI: 10.1097/MS9.0000000000000651 -
Skeletal Radiology Jan 2024To evaluate the results of total-body (TB) MRI used as a screening tool for assessment or exclusion of malignant transformation in patients with hereditary multiple...
Is total-body MRI useful as a screening tool to rule out malignant progression in patients with multiple osteochondromas? Results in a single-center cohort of 319 adult patients.
PURPOSE
To evaluate the results of total-body (TB) MRI used as a screening tool for assessment or exclusion of malignant transformation in patients with hereditary multiple osteochondromas (HMO).
PATIENTS AND METHODS
In a single-institute cohort of MO patients, 366 TB-MRI examinations, including T1-weighted and STIR images, were performed for screening and follow-up purposes to rule out the malignant transformation, and retrospectively analyzed. In each patient, the presence and location of osteochondromas in the axial and appendicular bones were recorded. Forty-seven patients underwent a second TB surveillance in this period. STIR sequences were used to identify sites of increased signal intensity that could represent suspicious thickened cartilage caps or indeterminate reactive changes related to osteochondromas.
RESULTS
In 82% of patients, one or more OC locations were determined in one or more flat bones. In 366 exams, nine OC (2,5 %) with suspicious imaging features were identified. These proved to be peripheral chondrosarcomas after targeted MRI and resection were performed. All nine malignant lesions were in flat bones (pelvis 5, ribs 3, scapula 1). Three of these patients were 19 years of age. In 12 patients who had peripheral or intraosseous low-grade chondrosarcoma in their history, before their first TB-MRI, no new lesions were identified. Twenty-three additional TB-MRI exams, demonstrating focal high T2 signal intensity, also gave rise to performing additional targeted MRI. One OC of the distal femur was excised and appeared benign. No suspicious cartilage caps were depicted on the remaining 22 targeted MRI exams but instead increased T2 signal was clarified by reactive changes (frictional bursitis, soft tissue edema) in close relation with benign osteochondromas. No malignant lesions were found in 47 patients who had a second TB surveillance (mean interval between exams 3.2 years, range 2-5 years).
CONCLUSION
TB-MRI can identify malignant transformation of osteochondromas in HMO patients. All peripheral chondrosarcomas occurred in flat bones (ribs, scapula, pelvis) in our study. TB-MRI might assist in triage between higher risk patients with a high burden of OC, including the location of OC in main flat bones vs lower risk patients without OC of the flat bones.
Topics: Humans; Adult; Exostoses, Multiple Hereditary; Retrospective Studies; Bone Neoplasms; Chondrosarcoma; Osteochondroma; Magnetic Resonance Imaging; Scapula; Cell Transformation, Neoplastic
PubMed: 37338590
DOI: 10.1007/s00256-023-04389-2 -
International Journal of Rheumatic... Oct 2023
Topics: Humans; Exostoses, Multiple Hereditary; Chondrosarcoma; Bone Neoplasms
PubMed: 37313676
DOI: 10.1111/1756-185X.14769 -
Journal of Orthopaedics Jun 2023Exposure to ionizing radiation in patients with Multiple Hereditary Exostoses (MHE) is inevitable and necessary for the diagnosis and treatment of MHE. Radiation...
BACKGROUND
Exposure to ionizing radiation in patients with Multiple Hereditary Exostoses (MHE) is inevitable and necessary for the diagnosis and treatment of MHE. Radiation exposure has many potentially dangerous consequences, including the increased risk of developing cancer. This is especially concerning in the pediatric patient population since children are more likely to develop adverse effects from radiation than adults. This study aimed to quantify radiation exposure over a five-year period among patients diagnosed with MHE since such information is not currently available in the literature.
METHODS
Diagnostic radiographs, computed tomography (CT) scans, nuclear medicine studies, and intraoperative fluoroscopy exposures were analyzed for radiation exposure in 37 patients diagnosed with MHE between 2015 and 2020.
RESULTS
Thirty-seven patients with MHE underwent 1200 imaging studies, 976 of which were related to MHE and 224 unrelated to MHE. The mean estimated MHE cumulative radiation dose per patient was 5.23 mSv. Radiographs related to MHE contributed the most radiation. Patients from the ages of 10- to 24-years-old received the most imaging studies and exposure to ionizing radiation, especially compared to those under age 10 ( = 0.016). The 37 patients also received a total of 53 surgical-excision procedures, with a mean of 1.4 procedures per person.
CONCLUSIONS
MHE patients are exposed to increased levels of ionizing radiation secondary to serial diagnostic imaging, with those ages 10-24 years old being exposed to significantly higher doses of radiation. Because pediatric patients are more sensitive to radiation exposure and are at an overall higher risk, the use of radiographs should always be justified in those patients.
PubMed: 37234093
DOI: 10.1016/j.jor.2023.05.004 -
Molecular Cytogenetics May 2023Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony...
BACKGROUND
Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most HME are caused by EXT1 and EXT2 loss of function mutations. Most pathogenic mutations are nonsense followed by missense mutations and deletions.
CASE PRESENTATION
Here we report on a patient with a rare and complex genotype resulting in a typical HME phenotype. Initial point mutation screening in EXT1 and EXT2 genes by Sanger sequencing did not reveal any pathogenic variants. The patient along with the healthy parents was subsequently referred for karyotype and array-Comparative Genomic Hybridization (CGH) analyses. Chromosomal analysis revealed two independent de novo apparently balanced rearrangements: a balanced translocation between the long arms of chromosomes 2 and 3 at breakpoints 2q22 and 3q13.2 and a pericentric inversion with breakpoints at 8p23.1q24.1. Both breakpoints were confirmed by Fluorescence In Situ Hybridization (FISH). Subsequently, array-CGH revealed a novel heterozygous deletion within the EXT1 gene at one of the inversion breakpoints, rendering the inversion unbalanced. The mode of inheritance, as well as the size of the deletion were further investigated by Quantitative Real-time PCR (qPCR), defining the deletion as de novo and of 3.1 kb in size, removing exon 10 of EXT1. The inversion in combination with the 8p23.1 deletion most likely abolishes the transcription of EXT1 downstream of exon 10 hence resulting in a truncated protein.
CONCLUSIONS
The identification of a rare and novel genetic cause of HME, highlights the importance of additional comprehensive investigation of patients with typical clinical manifestations, even when EXT1 and EXT2 mutation analysis is negative.
PubMed: 37217936
DOI: 10.1186/s13039-023-00638-0 -
Injury Jul 2023Many studies have evaluated splint strength at maturity with multiple splint materials, methods, and configurations but none have analyzed splints as they cure. The...
Many studies have evaluated splint strength at maturity with multiple splint materials, methods, and configurations but none have analyzed splints as they cure. The purpose of this study is to evaluate the properties of different splint materials immediately following activation and as they mature. Splints were dipped for three seconds in two temperatures of water and an additional group of fiberglass with no water was tested as well. Splint weight was taken as an additional measurement to assure homogenous groups. All splints were tested in three-point bending at a constant displacement. The generalized linear model (GLM) including all time frames showed differences in yield load and ultimate loads after three minutes. All ultimate loads occurred at greater than 20° of angulation. Plaster had a much lower displacement at its yield load at all times after 3 min. Plaster had a higher stiffness at 1° of angulation at all time points after six minutes. The GLM that excluded the three-day time showed that the higher temperature increased initial stiffness in the splints at three and six minutes. Fiberglass has a higher yield point and ultimate load when compared to plaster. However, these loads were measured at significant splint angulation for the fiberglass, suggesting that plaster is acting as a true splint. Fiberglass is stronger and faster to cure than plaster. In situations where the surgeon desires the strongest splint, fiberglass may be preferable. However, the initial stiffness of plaster is superior to fiberglass.
Topics: Humans; Splints; Casts, Surgical; Temperature; Exostoses; Fascia
PubMed: 37183090
DOI: 10.1016/j.injury.2023.05.026 -
Journal of Orthopaedic Case Reports Jun 2022Osteochondromas are the most common benign bone tumors. They probably are developmental malformations rather than true neoplasms and are thought to originate within the...
A Case Report on Surgical Excision of Intracapsular Osteochondroma of Femur Neck using Mini-Arthrotomy without Hip Dislocation in a Young Female with Hereditary Multiple Exostoses.
INTRODUCTION
Osteochondromas are the most common benign bone tumors. They probably are developmental malformations rather than true neoplasms and are thought to originate within the periosteum as small cartilaginous nodules. The lesions consist of a bony mass produced by progressive endochondral ossification of a growing cartilaginous cap. Osteochondromas usually are found on the metaphysis of a long bone near the physis such as distal femur, proximal tibia, and proximal humerus. Surgical treatment for femur neck osteochondroma is difficult due to the high risk of avascular necrosis following excision. These lesions in femur are in close proximity to important neurovascular bundle and can cause symptoms related to their compression. Furthermore, the symptoms related to labral tear and hip impingement are common. Recurrence is rare and is caused by failure to remove the entire cartilaginous cap.
CASE REPORT
A 25-year-old female presented with the complaints of pain in the right hip and difficulty in walking and running for 1 year. On radiological examination, the right femur neck osteochondroma was diagnosed, it was located along the posteroinferior margin of the femur neck. Surgical removal of the lesion was done in lateral decubitus position using posterolateral approach to hip without dislocation of the femur.
CONCLUSION
Osteochondroma at femur neck can be safely removed without surgical hip dislocation. It's necessary to remove it completely to avoid recurrence.
PubMed: 37065516
DOI: 10.13107/jocr.2022.v12.i06.2868 -
Diagnostics (Basel, Switzerland) Mar 2023Supernumerary teeth refer to extra teeth that exceed the usual number of dentitions. A mesiodens is a particular form of supernumerary tooth, which is located in the...
BACKGROUND
Supernumerary teeth refer to extra teeth that exceed the usual number of dentitions. A mesiodens is a particular form of supernumerary tooth, which is located in the premaxilla region. The objective of the study was to investigate the genetic etiology of extra tooth phenotypes, including mesiodens and isolated supernumerary teeth.
METHODS
Oral and radiographic examinations and whole-exome sequencing were performed on every patient in our cohort of 122 patients, including 27 patients with isolated supernumerary teeth and 94 patients with mesiodens. A patient who had multiple supernumerary teeth also had odontomas.
RESULTS
We identified a novel (c.8498A>G; p.Asn2833Ser) and six recurrent (c.1603C>T; p.Arg535Cys, c.5852G>A; p.Arg1951His, c.6949A>T; p.Thr2317Ser; c.1549G>A; p.Val517Met, c.1921A>G; p.Thr641Ala, and c.850G>C; p.Val284Leu) heterozygous missense variants in in eight patients with extra tooth phenotypes.
CONCLUSIONS
Biallelic variants in are implicated in autosomal recessive Fraser syndrome with or without dental anomalies. Here, we report for the first time that heterozygous carriers of variants have phenotypes including oral exostoses, mesiodens, and isolated supernumerary teeth.
PubMed: 37046432
DOI: 10.3390/diagnostics13071214