1.Chitosan Nerve Grafts Incorporated with SKP-SC-EVs Induce Peripheral Nerve Regeneration
Xinyang ZHOU ; Miaomei YU ; Daiyue CHEN ; Chunyan DENG ; Qi ZHANG ; Xiaosong GU ; Fei DING
Tissue Engineering and Regenerative Medicine 2023;20(2):309-322
BACKGROUND:
Repair of long-distance peripheral nerve defects remains an important clinical problem. Nerve grafts incorporated with extracellular vesicles (EVs) from various cell types have been developed to bridge peripheral nerve defects. In our previous research, EVs obtained from skin-derived precursor Schwann cells (SKP-SC-EVs) were demonstrated to promote neurite outgrowth in cultured cells and facilitate nerve regeneration in animal studies.
METHODS:
To further assess the functions of SKP-SC-EVs in nerve repair, we incorporated SKP-SC-EVs and Matrigel into chitosan nerve conduits (EV-NG) for repairing a 15-mm long-distance sciatic nerve defect in a rat model. Behavioral analysis, electrophysiological recording, histological investigation, molecular analysis, and morphometric assessment were carried out.
RESULTS:
The results revealed EV-NG significantly improved motor and sensory function recovery compared with nerve conduits (NG) without EVs incorporation. The outgrowth and myelination of regenerated axons were improved, while the atrophy of target muscles induced by denervation was alleviated after EVs addition.
CONCLUSION
Our data indicated SKP-SC-EVs incorporation into nerve grafts represents a promising method for extended peripheral nerve damage repair.
2.Analysis of variant of GLI3 gene in a child featuring autosomal dominant Pallister-Hall syndrome.
Xinwei HOU ; Jianjun WANG ; Yi LU ; Daiyue YU ; Jiaming YANG ; Nan LI ; Huirong YANG ; Kai WU
Chinese Journal of Medical Genetics 2023;40(1):92-95
OBJECTIVE:
To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS).
METHODS:
DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.
RESULTS:
Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant.
CONCLUSION
The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.
Humans
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Child
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Pallister-Hall Syndrome/genetics*
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Kruppel-Like Transcription Factors/genetics*
;
Zinc Finger Protein Gli3/genetics*
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Polydactyly/genetics*
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Hamartoma/pathology*
;
Nerve Tissue Proteins/genetics*
Result Analysis
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