Soft Tissue Chondroma: A Possible Diagnosis of Single-Digit Nail Clubbing.
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ABSTRACT:
SUBMITTER: Xue S
PROVIDER: S-EPMC8667792 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:A fusion between fibronectin 1 (FN1) and activin receptor 2A (ACVR2A) has been reported previously in isolated cases of the synovial chondromatosis. To analyze further and validate the findings, we performed FISH and demonstrated recurrent FN1-ACVR2A rearrangements in synovial chondromatosis (57%), and chondrosarcoma secondary to synovial chondromatosis (75%), showing that FN1 and/or AVCR2A gene rearrangements do not distinguish between benign and malignant synovial chondromatosis. RNA sequencing revealed the presence of the FN1-ACVR2A fusion in several cases that were negative by FISH suggesting that the true prevalence of this fusion is potentially higher than 57%. In soft tissue chondromas, FN1 alterations were detected by FISH in 50% of cases but no ACVR2A alterations were identified. RNA sequencing identified a fusion involving FN1 and fibroblast growth factor receptor 2 (FGFR2) in the case of soft tissue chondroma and FISH confirmed recurrent involvement of both FGFR1 and FGFR2. These fusions were present in a subset of soft tissue chondromas characterized by grungy calcification, a feature reminiscent of phosphaturic mesenchymal tumor. However, unlike the latter, fibroblast growth factor 23 (FGF23) mRNA expression was not elevated in soft tissue chondromas harboring the FN1-FGFR1 fusion. The mutual exclusivity of ACVR2A rearrangements observed in synovial chondromatosis and FGFR1/2 in soft tissue chondromas suggests these represent separate entities. There have been no reports of malignant soft tissue chondromas, therefore differentiating these lesions will potentially alter clinical management by allowing soft tissue chondromas to be managed more conservatively.
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Project description:BackgroundNail diseases are malformations that appear on the nail plate and are classified according to their own signs and symptoms that may be related to other medical conditions. Although most nail diseases have distinct symptoms, making a differential diagnosis of nail problems can be challenging for medical experts.MethodOne early diagnosis method for any dermatological disease is designing an image analysis system based on artificial intelligence (AI) techniques. This article implemented a novel model using a publicly available nail disease dataset to determine the occurrence of three common types of nail diseases. Two classification models based on transfer learning using visual geometry group (VGGNet) were utilized to detect and classify nail diseases from images.Result and findingThe experimental design results showed good accuracy: VGG16 had a score of 94% accuracy and VGG19 had a 93% accuracy rate. These findings suggest that computer-aided diagnostic systems based on transfer learning can be used to identify multiple-lesion nail diseases.
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Project description:The tips of mammalian digits can regenerate after amputation, like those of amphibians. It is unknown why this capacity is limited to the area associated with the nail. Here we show that nail stem cells (NSCs) reside in the proximal nail matrix and that the mechanisms governing NSC differentiation are coupled directly with their ability to orchestrate digit regeneration. Early nail progenitors undergo Wnt-dependent differentiation into the nail. After amputation, this Wnt activation is required for nail regeneration and also for attracting nerves that promote mesenchymal blastema growth, leading to the regeneration of the digit. Amputations proximal to the Wnt-active nail progenitors result in failure to regenerate the nail or digit. Nevertheless, β-catenin stabilization in the NSC region induced their regeneration. These results establish a link between NSC differentiation and digit regeneration, and suggest that NSCs may have the potential to contribute to the development of novel treatments for amputees.
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Project description:Benign soft tissue chondroma is a rare type of extraskeletal chondrocytic tumour. It usually can be found in skeletal system in extremities. Head and neck region is one of the most uncommon sites for extraskeletal chondroma .Most common site is tongue and there has been paucity of cases arising from the other subsites .We present a case of 56 years gentleman who came to our OPD with a right masticator space swelling. It was nonmalignant on FNAC. He underwent wide local excision through a transparotid approach. Final biopsy & IHC report showed presence of benign chondrocytic neoplasm- soft tissue chondroma (extraskeletal). No further therapy was used and he has been in follow up since then. To our knowledge ,this is the third reported case of masseteric space chondroma.Supplementary informationThe online version contains supplementary material available at 10.1007/s12070-023-03705-5.
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Project description:Detonation nanodiamonds (DNDs) are a class of very small and spherical diamond nanocrystals. They are used in polymer reinforcement materials or as drug delivery systems in the field of nanomedicine. Synthesized by detonation, only the final deaggregation step down to the single-digit nanometer size (<10 nm) unfolds their full potential. Existing deaggregation methods mainly rely on mechanical forces, such as high-power sonication or bead milling. These techniques entail drawbacks such as contamination of the sample and the need for a specialized apparatus. In this paper, we report a purely chemical deaggregation method by simply combining oxidation in air followed by a boiling acid treatment, to produce highly stable single-digit DNDs in a suspension. The resulting DNDs are surface functionalized with carboxyl groups, the final boiling acid treatment removes primary metal contaminants such as magnesium, iron or copper and the nanoparticles remain dispersed over a wide pH range. Our method can be easily carried out in a standard chemistry laboratory with commonly available laboratory apparatus. This is a key step for many DND-based applications, ranging from materials science to biological or medical applications.
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Project description:Soft-tissue sarcomas are locally aggressive tumours with a tendency to spread haematogenously, especially to the lungs. Most patients present without obvious metastases. Their management is dependent on an adequate incisional biopsy to assess the grade of the tumour. The biopsy incision must be carefully placed so as not to compromise subsequent radical excision. Of patients so treated, 20 to 30% experience local recurrence within the first 3 years postoperatively. The use of adjuvant radiotherapy decreases the incidence of local recurrence to about 15%. Patients with retroperitoneal sarcomas have a greater tendency to suffer recurrence, with disseminated disease throughout the abdomen. The overall 5-year survival rate is about 50%. Patients may, however, have persistent disease or develop metastases beyond the 5-year period. The optimal timing of radiation and chemotherapy remains unresolved, but multimodality treatment at least allows the advocation of limb-sparing procedures for patients with soft-tissue sarcomas.
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Project description:BackgroundInherited isolated nail clubbing is a very rare Mendelian condition in humans, characterized by enlargement of the terminal segments of fingers and toes with thickened nails. Mutations in two genes have been reported to cause isolated nail clubbing in humans, which are the SLCO2A1 gene and the HPGD gene.ObjectivesAn extended Pakistani family having two affected siblings born of unaffected consanguineous union was included in the study. Predominant isolated congenital nail clubbing (ICNC) without any other systemic abnormalities was observed, which we aimed to characterize at clinico-genetic level.MethodsWhole exome coupled with Sanger sequencing were employed to uncover the sequence variant as a cause of the disease. Furthermore, protein modeling was carried out to reveal the predicted possible effect of the mutation at the protein level.ResultsWhole exome sequencing data analysis revealed a novel biallelic sequence variant (c.155T>A; p.Phe52Tyr) in the SLCO2A1 gene. Further, Sanger sequencing analysis validated and confirmed the segregation of the novel variant in the entire family. Subsequently, protein modeling of the wild-type and mutated SLCO2A1 revealed broad-scale change, which might compromise the proteins' secondary structure and function.ConclusionThe present study adds another mutation to the SLCO2A1-related pathophysiology. The involvement of SLCO2A1 in the pathogenesis of ICNC may open exciting perceptions of this gene in nail development/morphogenesis.
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Project description:Chondroma of the dural convexity (CDC) is a benign and extremely rare type of intracranial chondroma. In this study, we reported five CDCs in a single center and reviewed the available literature to determine the clinical characteristics and surgical outcomes and possible origins of the disease. The clinical data of five patients (4 females) who confirmed to be CDC between 2000 and 2019 in our single center was collected together with 22 cases from literatures. The clinical characteristics and surgical outcomes were reviewed and analyzed. Among all the available CDC cases, the mean age was 31 ± 13.7 years; the mean tumor volume was 42.3 ± 40.9 cm3, showing a female predominance (63% vs. 37%). The tumors showed calcification in 88.2% cases (15/17) on CT scans and hypointense on T1WI (15/19, 78.9%), mixed intense on T2WI (10/18, 55.6%), and inhomogeneous enhancement without dural tail sign after administration of gadolinium (20/21, 95.2%). Almost all the tumors were misdiagnosed as meningiomas preoperatively. In addition, almost all image available CDC lesions (24/25, 96%) located across the cranial sutures indicating that the tumor originated from ectopic chondrocytes from adjacent skull sutures. No tumors recurred after total resection in follow-up. CDCs are characterized with female predominance and may originate from ectopic chondrocytes from adjacent skull sutures. The lesion with inhomogeneous contrast enhancement without dural tail sign and avascular in cerebral angiography are key points to be differentiated from meningioma. The most effective treatment is total resection.
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Project description:The biopsy technique of choice in soft tissue sarcoma (STS) diagnosis is controversial. We examined the diagnostic accuracy of percutaneous core needle biopsy (CNB) and compared it to open incisional biopsy. A retrospective study included 91 incisional biopsies and 102 CNBs. A pair-match investigation was conducted on 19 patient pairs, comparing sensitivity, specificity, and diagnostic accuracy. Furthermore, we investigated the role of molecular pathology in sarcoma diagnostics. In 81/91 (89%) patients with incisional biopsy, the entity was confirmed by definitive pathology, whereas this was the case in 89/102 (87%) CNB patients (p = 0.52). Grading remained unchanged in 46/55 (84%) of incisional and 54/62 (87%) of CNBs (p = 0.61). The pair matched analysis showed that the correct entity was determined in 96% of incisional and 97.6% of core needle biopsies. The time between the initial consultation and the interdisciplinary tumor board's treatment recommendation was shorter in core needle biopsies (8.37 vs. 15.63 days; p < 0.002). Incisional biopsies led to two wound infections and one hematoma, whereas wound infection occurred in one patient after CNB. CNB leads to faster diagnosis while reaching the same histological accuracy and is less burdensome for patients. Still, surgeons need to remain aware of the possibility of biopsy failure.
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