Dataset Information

Angular limb deformity associated with TSPAN18, NRG3 and NOVA2 in Rambouillet rams.

ABSTRACT: Angular limb deformity (ALD) affects many species of livestock and companion animals. The mechanisms of ALD development are not well understood, but previous research suggests the involvement of genetic risk factors. A case-control genome-wide association study (GWAS) was conducted with 40 ALD-affected and 302 unaffected Rambouillet rams and 40,945 single nucleotide polymorphisms (SNPs). Forelimbs of 6 ALD-affected rams were examined and diagnosed with osteochondrosis. Genome-wide or chromosome-wide significant SNPs were positioned exonic, intronic or within the 3'UTR of genes TSPAN18, NRG3 and NOVA2, respectively. These genes have previously described roles related to angiogenesis and osteoblast, osteoclast and chondrocyte proliferation and differentiation, which suggests the possibility for their involvement in the pathogenesis of osteochondrosis. Functional consequences of SNPs were evaluated through transcription factor binding site analysis, which predicted binding sites for transcription factors of known importance to bone growth, including SOX6, SOX9 and RUNX2. The identification of genetic risk factors for ALD may help to improve animal welfare and production in Rambouillet, a breed known to be at risk for ALD development. This study proposes genes TSPAN18, NRG3 and NOVA2 as targets for further research towards understanding the etiology of ALD in Rambouillet sheep.

SUBMITTER: Becker GM

PROVIDER: S-EPMC10520043 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature

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Angular limb deformity associated with TSPAN18, NRG3 and NOVA2 in Rambouillet rams.

Becker Gabrielle M GM Shira Katie A KA Woods Julia L JL Khilji Sarem F SF Schauer Christopher S CS Webb Brett T BT Stewart Whit C WC Murdoch Brenda M BM

Scientific reports 20230925 1

Angular limb deformity (ALD) affects many species of livestock and companion animals. The mechanisms of ALD development are not well understood, but previous research suggests the involvement of genetic risk factors. A case-control genome-wide association study (GWAS) was conducted with 40 ALD-affected and 302 unaffected Rambouillet rams and 40,945 single nucleotide polymorphisms (SNPs). Forelimbs of 6 ALD-affected rams were examined and diagnosed with osteochondrosis. Genome-wide or chromosome- ...[more]

PMID: 37749158

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Project description:BackgroundThe windswept lower limb deformity describes valgus deformity in one leg with varus deformity in the other. It is mostly seen in young children with metabolic bone diseases (such as rickets) and may lead to leg length discrepancy (LLD) and Degenerative scoliosis (DS) in older age. To the best of our knowledge, there was no report of the spinal surgery in patient with severe DS associated with windswept deformity. The objective of this study is to report the unique case of a 60-year-old woman with severe degenerative scoliosis (DS) associated with windswept deformity caused by rickets who underwent a posterior correction and fusion surgery in spine.Case presentationThe patient was diagnosed as rickets windswept lower limb deformity for 50 years but never went through routine treatment. Then, she performed lumbar scoliosis for more than 20 years and suffered from severe back pain for 4 years. After overall clinical evaluation and radiographic measures, we performed a posterior surgical correction and fusion from T9-L5. With this surgery, the main thoracolumbar curve Cobb angle corrected from 72.5° to 21.0°, the coronal balance from 0 cm to 2.0 cm while the sagittal vertical axis (SVA) from 1.5 cm to - 1.0 cm. At 2 years postoperative follow-up, her back pain has almost completely relieved with a satisfied fixation and bone fusion showed on CT scans. However, a coronal imbalance was found with C7-CSVLdistance equal to 4.0 cm. This coronal imbalance was highly correlated to the untreated LLD and pelvic obliquity, and should be improved by standing posture or shoe lifts.ConclusionsFor such patient, the pure spinal correction and fusion surgery, in spite of lower limbs deformity, can achieve good relieve of back pain symptom, however may accompany by the complication of coronal imbalance due to the unimproved pelvic obliquity and LLD. However, longer follow-up is necessary to observe the long-term outcome of this patient's postoperative coronal imbalance.

Project description:We modified the original technique for percutaneous transphyseal screw which was described in 1998 by Metaizeau and colleagues for distal femoral coronal angular deformity correction; the modification is related to the screw direction, whereas the screw is administered in a retrograde pattern, starting from the epiphysis and directed toward the metaphysis. This technique opposes the original technique that was started with a metaphyseal entry point which aimed toward the epiphysis. This study evaluates the efficacy of the newly suggested surgical technique regarding the rate of correction and growth resumption after screw removal. This prospective study looked at 40 patients (65 distal femoral physes), who underwent a percutaneous retrograde transphyseal guided growth screw procedure, from October 2017 to September 2019. All the patients included had distal femoral coronal angular deformities; 52 in valgus and 13 in varus deformities. The study included 17 females with an average age of 11.75 (range: 8.4 to 14.5 y) for 29 femurs and 23 males with an average age of 13.75 (range: 11.75 to 15.6 y) for 36 femurs. The mechanical lateral distal femoral angle was measured initially, and then again was measured after reaching the desired corrected orientation. The patients were then followed up after the screw removal and followed up to maturity, if the physis had continued to grow postcorrection. The degree of correction per month was calculated, and the consequence of screw removal was detected. Follow-up average time was 12.6 months (range: 30 to 6 mo). The average correction in the distal femur was 1.3 degrees per month (range: 0.5 to 1.857 degrees/mo). In all of the 65 segments (61 femurs had significant growth remaining and 4 femurs had reached skeletal maturity with suboptimal mechanical lateral distal femoral angle correction), the screws were removed at the time of angular correction. Rebound growth was observed in 15 physes with an average of 1.8 degrees (range: 2 to 3 degrees); they were stable in 42 physes and progressed in 4 physes with an average of 1.6 degrees (range: 1 to 2 degrees). Complications were minor and related to entrapment of soft tissue under the screw washer. Percutaneous retrograde transphyseal guided growth screw for distal femur coronal angular deformity is a minimally invasive procedure, with a statistically significant correction rate when compared with the original transphyseal screw technique. The new technique has proven to have growth resumption after screw removal with minimal complication risk. Level III-prospective observational study.

Dataset Information

Angular limb deformity associated with TSPAN18, NRG3 and NOVA2 in Rambouillet rams.

Publications

Angular limb deformity associated with TSPAN18, NRG3 and NOVA2 in Rambouillet rams.

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