ABSTRACT
BACKGROUND: Circular RNA (circRNA) has been shown to affect the pathological process of osteoarthritis (OA) and is expected to become a potential marker for disease diagnosis. This study aimed to investigate the association between circRNA derived from the gene of runt-related transcription factor 2 (RUNX2) and OA risk. METHODS: The expression profile of RUNX2-derived circRNAs in serum of OA patients was detected. Then, the cytological localization of screened differential circRNAs was studied. Luciferase (LUC) reporter assay was used to identify the microRNA (miRNA) sponge capacity of the circRNAs. Bioinformatics analysis was used to construct the functional pathway of this circRNA-miRNAs network. And then, the diagnostic value of RUNX2-derived circRNAs in OA was evaluated. RESULTS: RUNX2-derived hsa_circ_0005526 (circ_RUNX2) is significantly highly expressed in OA serum and mainly located in the cytoplasm within the cartilage cell by sponging multiple miRNAs (miR-498, miR-924, miR-361-3p, and miR-665). Bioinformatics analysis showed ECM-receptor interaction pathway ranked the most significant pathway of circ_RUNX2-miRNAs regulatory network in KEGG database. The ROC curve showed that there may be good diagnostic value of serum circ_RUNX2 in OA. CONCLUSION: RUNX2-derived circ_RUNX2 may be involved in OA development via ECM-receptor interaction pathways and may be used as potential clinical indicator of OA.
Subject(s)
Core Binding Factor Alpha 1 Subunit/blood , Osteoarthritis/blood , Osteoarthritis/genetics , RNA, Circular/blood , Extracellular Matrix/metabolism , Gene Expression Regulation , Gene Regulatory Networks , Humans , MicroRNAs/genetics , MicroRNAs/metabolism , ROC Curve , Receptors, Cell Surface/metabolism , Subcellular Fractions/metabolismABSTRACT
PURPOSE: The ideal web reconstruction for syndactyly requires both satisfactory function and aesthetic appearance. In this study, we report a dorsal hexagon local flap with adequate size and that leaves most of the scars in the interdigital space. METHODS: Between June 2015 and June 2017, 16 patients (10 males and 6 females) with 22 syndactylies underwent surgical reconstruction using the dorsal hexagon local flap technique. All patients had simple syndactyly. The postoperative evaluation included the quality of scarring, the extent of flexion and extension deformity, web creep, lateral flexion deformity, and rotational deformity of the digit. RESULTS: All flaps survived and there were no postoperative complications. All patients achieved satisfactory interdigital commissure depth. During 12 to 34 months of follow-up, no case of flexion contracture or web creep after reconstruction was noted. CONCLUSIONS: The dorsal hexagon local flap is an alternative method for syndactyly reconstruction. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.
Subject(s)
Plastic Surgery Procedures , Skin Transplantation , Surgical Flaps , Syndactyly , Female , Humans , Male , Syndactyly/surgery , Treatment OutcomeABSTRACT
BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial and skeletal abnormalities, while non-ossifying fibroma (NOF) is a common benign bone tumour in children and adolescents. To date, no case of TRPS coexisting with NOF has been reported. This report presents a 12-year-old girl who had the characteristic features of tricho-rhino-phalangeal syndrome and non-ossifying fibroma with a fibula fracture. CASE PRESENTATION: A 12-year-old girl was admitted to the Department of Endocrinology and Diabetes for evaluation of brachydactyly and a right fibula fracture. Clinical examination revealed sparse scalp hair, a characteristic bulbous pear-shaped nose, and brachydactyly with significant shortening of the fourth metatarsal. Neither intellectual disability nor multiple exostoses were observed. Radiography of both hands showed brachydactyly and cone-shaped epiphyses of the middle phalanges of the digits of both hands with deviation of the phalangeal axis. Genetic analysis of TRPS1 identified a heterozygous germline sequence variant (p.Ala932Thr) in exon 6 in the girl and her father. Approximately 1 month before being admitted to our department, the girl experienced a minor fall and suffered a fracture of the proximal fibula in the right lower limb. The pathological cytological diagnosis of the osteolytic lesion was NOF. Ten months following the surgery, the lesion on the proximal fibula of the girl disappeared. CONCLUSIONS: In conclusion, the present study is the first to report a rare case of NOF with a pathologic fracture in the fibula of a girl with TRPS. The identification of a missense mutation, (p.Ala932Thr), in exon 6 of TRPS1 in this kindred further suggested that the patient had type I TRPS and indicated that mutations in this exon may be correlated with more pronounced features of the syndrome. Radiological techniques and genetic analysis played key roles in the definitive diagnosis.
Subject(s)
Bone Neoplasms/genetics , Brachydactyly/genetics , DNA-Binding Proteins/genetics , Fibroma/genetics , Fingers/abnormalities , Fractures, Spontaneous/genetics , Hair Diseases/genetics , Langer-Giedion Syndrome/genetics , Neoplasms/genetics , Nose/abnormalities , Transcription Factors/genetics , Adult , Base Sequence , Bone Neoplasms/complications , Bone Neoplasms/diagnostic imaging , Bone Neoplasms/pathology , Brachydactyly/complications , Brachydactyly/diagnostic imaging , Brachydactyly/pathology , Child , Exons , Female , Fibroma/complications , Fibroma/diagnostic imaging , Fibroma/pathology , Fibula/injuries , Fingers/diagnostic imaging , Fingers/pathology , Fractures, Spontaneous/complications , Fractures, Spontaneous/diagnostic imaging , Fractures, Spontaneous/pathology , Gene Expression , Hair Diseases/complications , Hair Diseases/diagnostic imaging , Hair Diseases/pathology , Humans , Langer-Giedion Syndrome/complications , Langer-Giedion Syndrome/diagnostic imaging , Langer-Giedion Syndrome/pathology , Male , Mutation , Neoplasms/complications , Neoplasms/diagnostic imaging , Neoplasms/pathology , Nose/diagnostic imaging , Nose/pathology , Paternal Inheritance , Radiography , Repressor ProteinsABSTRACT
Ferrate (VI) is traditionally recognized as a safe oxidant without production of disinfection byproducts (DBPs). However, here we detected probable carcinogenic bromate (BrO3(-)) during ferrate(VI) oxidation of bromide (Br(-))-containing water, and evaluated the effects of pH, ferrate(VI) dose, initial Br(-) concentration, and co-existing anions on the BrO3(-) formation. BrO3(-) was produced at a moderately-weakly acidic pH condition and in the absence of phosphate that was commonly applied as a buffer and stabilizing agent in previous ferrate(VI) studies. At pH 5.0, the produced BrO3(-) was increased from 12.5 to 273.8 µg/L with the increasing initial Br(-) concentration from 200 to 1000 µg/L at 10 mg/L Fe(VI), corresponding to an increase in the molar conversion ([BrO3(-)]/initial [Br(-)]) from 2.3% to 10.3%, in a bicarbonate-buffered solution. As pH increased to 7.0, the BrO3(-) concentration gradually dropped. The BrO3(-) production appeared to be associated with the oxidation by high valence iron species (i.e. Fe(VI), Fe(V) and Fe(IV)). Two key intermediate products (i.e. hypobromous acid/hypobromite (HOBr/OBr(-)) and hydrogen peroxide (H2O2)) relevant to the bromate formation were identified. The production of HOBr, a requisite intermediate for the ensuing bromate formation, was indirectly validated through identification of bromine-containing trihalomethanes and haloacetic acids during ferrate oxidation in a natural water, though these bromo-organic DBPs produced were insignificant. Furthermore, the inhibition effects of various anions on the formation of BrO3(-) followed chloride < sulfate < silicate < phosphate. More H2O2 was detected at higher phosphate concentration. It could reduce HOBr to Br(-), thereby inhibiting the bromate formation.
