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Ear, Nose, & Throat Journal May 2023Myositis ossificans (MO) is a benign, self-limiting, and nonneoplastic lesion involving the skeletal muscle or soft tissue, rarely occurring in the head and neck. It is...
Myositis ossificans (MO) is a benign, self-limiting, and nonneoplastic lesion involving the skeletal muscle or soft tissue, rarely occurring in the head and neck. It is relatively rare in clinical practice, and it is difficult to distinguish specific cases from musculoskeletal conditions, which poses unique challenges for clinical diagnosis and treatment. We reported that a 9-year-old boy suffered from local and nontraumatic MO of the trapezius muscle. Given the rarity of this case, the present article detailed the diagnosis and treatment of this rare case and reviewed the relevant literature on MO, focusing on the clinical, pathological, and radiographic characteristics of MO. Notably, these investigations aimed to enhance clinicians' understanding of the disease and improve diagnostic accuracy.
PubMed: 37226767
DOI: 10.1177/01455613231175316 -
Zhongguo Xiu Fu Chong Jian Wai Ke Za... May 2023To investigate the short-term effectiveness of transverse antecubital incision in the treatment of failed closed reduction of Gartland type Ⅲ supracondylar humeral...
OBJECTIVE
To investigate the short-term effectiveness of transverse antecubital incision in the treatment of failed closed reduction of Gartland type Ⅲ supracondylar humeral fractures (SHFs) in children.
METHODS
Between July 2020 and April 2022, 20 children with Gartland type Ⅲ SHFs who failed in closed reduction were treated with internal and external condylar crossing Kirschner wire fixation through transverse antecubital incision. There were 9 boys and 11 girls with an average age of 3.1 years (range, 1.1-6.0 years). The causes of injuries were fall in 12 cases and fall from height in 8 cases. The time from admission to operation ranged from 7 to 18 hours, with an average of 12.4 hours. The healing of the incision and the occurrence of complications such as nerve injury and cubitus varus were observed after operation; the elbow flexion and extension range of motion after removing the gypsum, after removing the Kirschner wire, and at last follow-up were recorded and compared, as well as the elbow flexion and extension and forearm rotation range of motion at last follow-up between healthy and affected sides; the Baumann angle was measured on the X-ray film, and the fracture healing was observed. At last follow-up, the effectiveness was evaluated according to the Flynn elbow function evaluation criteria.
RESULTS
All incisions healed by first intention, and there was no skin necrosis, scar contracture, ulnar nerve injury, and cubitus varus. Postoperative pain occurred in the radial-dorsal thumb in 2 cases. The gypsum was removed and elbow flexion and extension exercises were started at 2-4 weeks (mean, 2.7 weeks) after operation, and the Kirschner wire was removed at 4-5 weeks (mean, 4.3 weeks). All the 20 patients were followed up 6-16 months, with an average of 12.4 months. The fracture healing time was 4-5 weeks, with an average of 4.5 weeks, and there was no complication such as delayed healing and myositis ossificans. The flexion and extension range of motion of the elbow joint gradually improved after operation, and there were significant differences between the time after removing the gypsum, after removing the Kirschner wire, and at last follow-up ( <0.017). There was no significant difference in the flexion and extension of the elbow joint and the forearm rotation range of motion between the healthy and affected sides at last follow-up ( >0.05). There was no significant difference in Baumann angle between the time of immediate after operation, after removing the Kirschner wire, and at last follow-up ( >0.05). According to Flynn elbow function evaluation standard, 16 cases were excellent and 4 cases were good, the excellent and good rate was 100%.
CONCLUSION
The treatment of Gartland type Ⅲ SHFs in children with failed closed reduction by internal and external condylar crossing Kirschner wire fixation through transverse antecubital incision has the advantages of complete soft tissue hinge behind the fracture for easy reduction and wire fixation, small incision, less complications, fast fracture healing, early functional recovery, reliable reduction and fixation, and can obtain satisfactory results.
Topics: Male; Female; Humans; Child; Child, Preschool; Calcium Sulfate; Humerus; Humeral Fractures; Plastic Surgery Procedures; Fracture Fixation, Internal; Bone Wires; Fracture Healing; Treatment Outcome; Range of Motion, Articular
PubMed: 37190833
DOI: 10.7507/1002-1892.202211033 -
Orphanet Journal of Rare Diseases May 2023Fibrodysplasia ossificans progressiva (FOP) is an ultrarare and disabling genetic disorder of connective tissue characterized by congenital malformation of the great...
BACKGROUND
Fibrodysplasia ossificans progressiva (FOP) is an ultrarare and disabling genetic disorder of connective tissue characterized by congenital malformation of the great toes, and progressive heterotopic ossification (HO) in soft connective tissues. A gain-of-function mutation of activin A receptor type I (ACVR1) enables ACVR1 to recognize activin A as an agonist with bone morphogenetic protein (BMP) signalling that leads to HO. Previous studies confirmed that activin A stimulates BMP signalling in vitro and drives HO in mouse models of FOP. However, the roles for BMP4 and BMP6 in FOP are supported only by correlative evidence in vitro. Thus, it remains unclear whether the circulating levels of activin A, BMP4 and BMP6 correlate with flare-ups in FOP patients. Hence, we investigated the protein levels of activin A, BMP4 and BMP6 in the serum of FOP patients.
RESULTS
We recruited 16 untreated FOP patients and 16 age- and sex- matched healthy control subjects in this study. The 16 FOP patients were retrospectively divided into the flare-up group (n = 8) and remission group (n = 8) depending on whether they had flare-ups or worsening of any joint movement in the last 6 months. The serum activin A, BMP4 and BMP6 levels were detected by enzyme-linked immunosorbent assay. The serum activin A, BMP4 and BMP6 levels were slightly higher in FOP patients (median: 434.05 pg/mL, 459.48 pg/mL and 67.84 pg/mL) versus healthy control subjects (median: 364.14 pg/mL, 450.39 pg/mL and 55.36 pg/mL). However, there were no statistically significant differences between the two groups (p > 0.05 for all items), nor were there significant differences between the flare-up and remission groups of FOP (p > 0.05 for all items). Univariate and multivariate logistic regression analyses showed that age, sex, and serum activin A, BMP4 and BMP6 levels were not related to flare-up in FOP patients.
CONCLUSIONS
There were no significant differences in the serum levels of activin A, BMP4 and BMP6 in FOP patients compared with healthy control subjects. Serum activin A, BMP4 and BMP6 proteins might not be the stimulators for FOP flare-up, and may not be biomarkers for FOP diagnosis.
Topics: Mice; Animals; Myositis Ossificans; Retrospective Studies; Mutation; Ossification, Heterotopic; Bone Morphogenetic Proteins; Activin Receptors, Type I
PubMed: 37165433
DOI: 10.1186/s13023-023-02708-3 -
Medicine Apr 2023Myositis ossificans circumscripta (MOC) is a rare disorder that causes heterotopic bone formation in soft tissues. It usually occurs after trauma and affects large...
RATIONALE
Myositis ossificans circumscripta (MOC) is a rare disorder that causes heterotopic bone formation in soft tissues. It usually occurs after trauma and affects large muscles of the extremities. MOC of the pectineus muscle is extremely rare and has not been reported to be treated surgically.
PATIENT CONCERNS
A 52-year-old woman presented with left hip pain and dysfunction 4 months after a traffic accident that caused pelvic and humeral fractures and cerebral hemorrhage.
DIAGNOSES
Radiological imaging revealed isolated ossification of the left pectineus muscle. The patient was diagnosed with MOC.
INTERVENTIONS
The patient underwent surgical resection of the ossified pectineus muscle followed by local radiation and medical therapy.
OUTCOMES
At 12 months postoperatively, she was asymptomatic and had normal hip function. No recurrence was observed on radiography.
LESSONS
MOC of the pectineus muscle is a rare condition that can cause severe hip dysfunction. Surgical resection combined with radiation and anti-inflammatory drugs can be an effective treatment option for patients who do not respond to conservative management.
Topics: Female; Humans; Middle Aged; Myositis Ossificans; Muscle, Skeletal; Pain; Radiography; Fractures, Bone
PubMed: 37115044
DOI: 10.1097/MD.0000000000033694 -
Tomography (Ann Arbor, Mich.) Apr 2023To evaluate the usefulness of CT temporal subtraction (TS) images for detecting emerging or growing ectopic bone lesions in fibrodysplasia ossificans progressiva (FOP).
PURPOSE
To evaluate the usefulness of CT temporal subtraction (TS) images for detecting emerging or growing ectopic bone lesions in fibrodysplasia ossificans progressiva (FOP).
MATERIALS AND METHODS
Four patients with FOP were retrospectively included in this study. TS images were produced by subtracting previously registered CT images from the current images. Two residents and two board-certified radiologists independently interpreted a pair of current and previous CT images for each subject with or without TS images. Changes in the visibility of the lesion, the usefulness of TS images for lesions with TS images, and the interpreter's confidence level in their interpretation of each scan were assessed on a semiquantitative 5-point scale (0-4). The Wilcoxon signed-rank test was used to compare the evaluated scores between datasets with and without TS images.
RESULTS
The number of growing lesions tended to be larger than that of the emerging lesions in all cases. A higher sensitivity was found in residents and radiologists using TS compared to those not using TS. For all residents and radiologists, the dataset with TS tended to have more false-positive scans than the dataset without TS. All the interpreters recognized TS as useful, and confidence levels when using TS tended to be lower or the same as when not using TS for two residents and one radiologist.
CONCLUSIONS
TS improved the sensitivity of all interpreters in detecting emerging or growing ectopic bone lesions in patients with FOP. TS could be applied further, including the areas of systematic bone disease.
Topics: Humans; Tomography, X-Ray Computed; Myositis Ossificans; Retrospective Studies
PubMed: 37104133
DOI: 10.3390/tomography9020062 -
International Journal of Molecular... Apr 2023Fibrodysplasia Ossificans Progressiva (FOP) is a very rare genetic disease characterized by progressive heterotopic ossification (HO) of soft tissues, leading to...
Fibrodysplasia Ossificans Progressiva (FOP) is a very rare genetic disease characterized by progressive heterotopic ossification (HO) of soft tissues, leading to immobility and premature death. FOP is caused by a mutation in the Activin receptor Type 1 (ACVR1) gene, resulting in altered responsiveness to Activin-A. We recently revealed that Activin-A induces fewer, but larger and more active, osteoclasts regardless of the presence of the mutated ACVR1 receptor. The underlying mechanism of Activin-A-induced changes in osteoclastogenesis at the gene expression level remains unknown. Transcriptomic changes induced by Activin-A during osteoclast formation from healthy controls and patient-derived CD14-positive monocytes were studied using RNA sequencing. CD14-positive monocytes from six FOP patients and six age- and sex-matched healthy controls were differentiated into osteoclasts in the absence or presence of Activin-A. RNA samples were isolated after 14 days of culturing and analyzed by RNA sequencing. Non-supervised principal component analysis (PCA) showed that samples from the same culture conditions (e.g., without or with Activin-A) tended to cluster, indicating that the variability induced by Activin-A treatment was larger than the variability between the control and FOP samples. RNA sequencing analysis revealed 1480 differentially expressed genes induced by Activin-A in healthy control and FOP osteoclasts with (adj) < 0.01 and a Log2 fold change of ≥±2. Pathway and gene ontology enrichment analysis revealed several significantly enriched pathways for genes upregulated by Activin-A that could be linked to the differentiation or function of osteoclasts, cell fusion or inflammation. Our data showed that Activin-A has a substantial effect on gene expression during osteoclast formation and that this effect occurred regardless of the presence of the mutated ACVR1 receptor causing FOP.
Topics: Humans; Myositis Ossificans; Osteoclasts; Transcriptome; Ossification, Heterotopic; Activins; Mutation; Activin Receptors, Type I
PubMed: 37047804
DOI: 10.3390/ijms24076822 -
Journal of Orthopaedic Case Reports Nov 2022It is an autosomal dominant genetic disease presented with heterotopic ossification of connective tissues after birth and a defect of the big toes. One in ten million...
INTRODUCTION
It is an autosomal dominant genetic disease presented with heterotopic ossification of connective tissues after birth and a defect of the big toes. One in ten million births is affected by it worldwide. As a result, diagnosis and management of fibrodysplasia ossificans progressiva (FOP) can be delayed or misdiagnosed. Clinical assessment, radiographic examination, and genetic study of the Activin receptor Type 1A gene are among the diagnostic techniques used to identify this disease.
CASE REPORT
We are presenting three female cases having FOP in this article of different age groups. It presented with multiple non-tender lumps on patients' paravertebral region along with bilateral hallux valgus. The radiograph revealed ossifications of soft tissue involving spine and neck. The patient was given a conservative treatment approach and told what could be done to prevent flare-ups.
CONCLUSION
Being a rare, progressive, and often misdiagnosed condition, early diagnosis is advocated. Long-term physiotherapy and muscle trauma prevention can delay it as much as possible to prevent future disabilities.
PubMed: 37013240
DOI: 10.13107/jocr.2022.v12.i11.3394 -
BMC Musculoskeletal Disorders Mar 2023Progressive osseous heteroplasia (POH) is a rare genetic condition that causes progressive ossification. This usually results from an inactivating mutation of the...
BACKGROUND
Progressive osseous heteroplasia (POH) is a rare genetic condition that causes progressive ossification. This usually results from an inactivating mutation of the paternal GNAS gene. Herein, we report a case of POH caused by a novel mutation in exon 2 of the GNAS gene.
CASE PRESENTATION
A 5-year-old Chinese boy was referred to our hospital for a growing mass in his right foot. Although laboratory findings were normal, radiographic imaging revealed severe ossification in his right foot and smaller areas of intramuscular ossification in his arms and legs. A de novo mutation (c.175C > T, p.Q59X) in exon 2 of the GNAS gene was identified, prompting a diagnosis of POH. We conducted a systematic literature review to better understand this rare disease.
CONCLUSION
We have discovered that a de novo nonsense mutation in exon 2 of GNAS can lead to POH. Our literature review revealed that ankylosis of the extremities is the primary clinical outcome in patients with POH. Unlike other conditions such as fibrodysplasia ossificans progressiva (FOP), patients with POH do not experience respiratory failure. However, much remains to be learned about the relationship between the type of GNAS gene mutation and the resulting POH symptoms. Further research is needed to understand this complex and rare disease. This case adds to our current understanding of POH and will contribute to future studies and treatments.
Topics: Male; Humans; Child, Preschool; GTP-Binding Protein alpha Subunits, Gs; Rare Diseases; Ossification, Heterotopic; Myositis Ossificans; Exons; Mutation; Chromogranins
PubMed: 37003989
DOI: 10.1186/s12891-023-06371-4 -
Orphanet Journal of Rare Diseases Mar 2023Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder associated with increased immune activity and severe, progressive heterotopic ossification. We...
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder associated with increased immune activity and severe, progressive heterotopic ossification. We previously described a cohort of 32 patients with FOP who were either exposed to SARS-CoV-2 or received a COVID-19 vaccine and showed that these patients did not develop heterotopic ossification after COVID-19 vaccination. Here, we present additional clinical data from new subjects and additional long-term follow-up from the first cohort. We enrolled 15 new subjects between August 24th, 2021 and May 17th, 2022 and collected additional self-reported outcomes. The larger cohort with 47 individuals encompassing 49 events showed that patients with FOP exhibited no additional change in FOP disease activity or flare activity resulting from COVID-19 infection or after receipt of a SARS-CoV-2 vaccine. Thus, although any vaccination carries a risk of inducing heterotopic ossification in patients with FOP, our results show that patients with FOP who choose to receive a COVID-19 vaccination may be able to tolerate the procedure without a high risk of heterotopic ossification when following the published guidelines.
Topics: Humans; Myositis Ossificans; COVID-19 Vaccines; Follow-Up Studies; COVID-19; SARS-CoV-2; Ossification, Heterotopic
PubMed: 36941608
DOI: 10.1186/s13023-023-02638-0