Objective To study the causes of hematoma-induced spinal cord injury after surgical treatment of fluorosis cervical canal stenosis (FCCS) so as to conclude the methods for early diagnosis and treatment.Methods A retrospective review was conducted on 329 cases of FCCS undergone expansive laminoplasty (ELOP) between 2006 and 2009.Eighteen out of the 329 cases presented with neural deterioration in postoperative 2 weeks,including l 1 males and 7 females at age of 45-73 years (mean 56.9 years).MRI scan at postoperative 1-5 days confirmed that the injury cause was hematoma formation (incidence of 5.47％).Once the definite diagnosis was made,immediate local puncture decompression,immobilization in the prone position as well as a timely second surgical probe and spinal decompression were performed.Results Nerve symptom of the 18 cases obtained different degree of recovery.Japanese Orthopedic Association (JOA) score promoted from preoperative (7.44 ± 1.25) points to (12.6 ± 2.1)points at 12 months after second operation.Scatter plot between time of definite diagnosis and improvement value in JOA score before and after the second operation was drawn so as to establish linear equation (Y =6.240 7-0.777 8X(F =9.89,P ＜0.01).As a result,the two variables presented a negative linear relationship,which suggested a better outcome after early treatment than delayed treatment.Conclusions Hematoma compression is the main cause of spinal cord injury following operation for FCCS patients.Strict hematosis and alternate lateral clinostatism after operation were effective prevention methods.Besides,early diagnosis and timely treatment are critically important.

Objective To study the spinal neurocyte apoptosis and the changes of p53 in chronic fluorosis rats,and the improvement after drinking no fluoride water.Methods One hundred twenty Wistar rats were divided into 4 groups by random number table method according to body mass,30 rats in one group fed with high concentration NaF water (200 mg/L) to make fluorosis model and classified as high fluoride group;other 30 rats were fed with distilled water as control group;another 30 rats were fed with high concentration NaF water (200 mg/L) for 12 weeks,then fed with distilled water for 12 weeks and classified as defluorination group;the rest 30 rats were classified as defluorination control group.The content of fluoride in urine was tested after the 4th,8th,and 12th weeks.Then the content of fluoride in urine of defluorination group and defluorination control group was tested.The high fluoride group rats and control group rats were killed after 12th week.Defluorination group rats and defluorination control group rats were killed after 24th week.Their spinal cord was collected.The expression of p53 protein in spinal cord was detected by immunohistochemistry and Westem blotting.Apoptosis of the neurocyte was quantitatively analyzed by flow cytometry (FCM).Results By FCM,apoptosis of neurocyte was increased in both high fluorosis group rats and defluorination group rats compared with those in control group rats [(3.36 ± 0.71)％ vs.(0.78 ± 0.65)％;(3.47 ± 0.56)％ vs.(0.83 ± 0.64)％,t =14.680,17.003,all P ＜ 0.01)],but no difference was found between these two groups [(3.47 ± 0.56)％ vs.(3.36 ± 0.71)％,P ＞ 0.05)].Immunohistochemistry and Western blotting revealed that p53 expression in spinal cord of high fluorosis group rats was increased compared with those in control group rats (422.69 ± 12.35 vs.177.82 ± 14.16;253.37 ± 10.42 vs.87.14 ± 7.39,t =77.212,72.988,all P ＜ 0.01).And p53 expression in spinal cord of defluorination group rats was increased compared with those in control group rats (418.75 ± 11.84 vs.163.47 ± 8.57;248.29 ± 10.23 vs.98.74 ± 11.52,t =95.663,53.167,all P＜ 0.01).But the differences were not statistically significant (418.75 ± 11.84 vs.422.69 ± 12.35;248.29 ± 10.23 vs.253.37 ± 10.42,t =1.261,1.906,all P ＞ 0.05).Conclusions There is apoptosis of neurocytes in the spinal cord of chronic fluorosis rats;overexpression of p53 probably plays an important role in the mechanism of damage induced by excessive fluorine.Apoptosis can not be recovered after defluorination for a short time,and persistent overexpression of p53 may be one of the reasons that apoptosis of neurocytes in the spinal cord can not decrease.

Objective To evaluate and compare C5 palsy and closure of the opened lamina after expansive open-door Laminoplasty (EOLP) with miniplate or suture/anchor fixation.Methods Between January 2011 and January 2013,a total of 142 patients with cervical myelopathy who were treated by EOLP were divided into hinge-side fixation group (fixed with suture/anchor,78 cases)and open-side fixation group (fixed with miniplate,64 cases).The Japanese Orthopaedic Association (JOA) score was used for neurological assessment and recovery rate (RR) counting.Opening angles,cervical curvature index (CCI),posterior shifting of spinal cord (PSSC) and severity of cord compression were recorded and compared.Results All patients in both group were followed up for more than 12 months.All incisions healed by first intention.C5 palsy occurred in 9 patients (9/78,11.5％) of hingeside fixation group,and 1 patients (1/64,1.6％) of open-side fixation group,showing significant difference (P=0.047).Opening angles and PSSC in hinge-side fixation group were greater than that in open-side fixation group.PSSC of 10 patients with C5 palsy were 3.97±1.19 mm,and greater than that of other patients without C5 palsy 2.57± 1.01 mm.There was no significant difference in CCI before (12.23％±3.70％,11.38％±4.29％) and 1 week (12.12％±3.77％,11.31％±4.35％) after operation.No significant difference was found in JOA scores (12.35±1.09,13.55±0.91),JOA improvement rate (64.24％±9.49％,61.78％±11.48％) and cord compression (0.74±0.71,0.75±0.67) at 12 months after operation.In 6 months postoperatively,27％ of patients in hinge-side fixation group,none in open-side fixation group were identified with 10％ decrease or more in opening angles of lamina.Conclusion EOLP with miniplate fixation has the same clinical outcome as fixed with suture/anchor,but will reduce the incidence of C5 palsy and prevent further closure of the opened lamina.

OBJECTIVE: To explore the molecular pathogenesis of a Chinese pedigree affected with Hereditary coagulation factor Ⅺ (FⅪ) deficiency due to variants of the F11 gene. METHODS: A male proband with Hereditary coagulation factor Ⅺ deficiency who was admitted to the First Affiliated Hospital of Wenzhou Medical University due to urinary calculi on November 30, 2020 and his family members (7 individuals from 3 generations in total) were selected as the study subjects. Clinical data of the proband were collected, and relevant coagulation indices of the proband and his family members were determined. Genomic DNA of peripheral blood samples was extracted for PCR amplification. All exons, flanking sequences, and 5' and 3' untranslated regions of the F11 gene of the proband were analyzed by direct sequencing. And the corresponding sites were subjected to sequencing in other family members. The conservation of amino acid variation sites was analyzed by bioinformatic software, and the effect of the variant on the protein function was analyzed. Variants were graded based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: The proband was a 36-year-old male. His activated partial thromboplastin time (APTT) was 89.2s, which was significantly prolonged. The FⅪ activity (FⅪ:C) and FⅪ antigen (FⅪ:Ag) were 2.0% and 3.5%, respectively, which were extremely reduced. Both the proband and his sister were found to harbor compound heterozygous variants of the F11 gene, including a c.689G>T (p.Cys230Phe) missense variant in exon 7 from their father and a c.1556G>A (p.Trp519*) nonsense variant in exon 13 from their mother. Conservation analysis indicated the Cys230 site to be highly conserved. The c.1556G>A (p.Trp519*) variant was known to be pathogenic, whilst the c.689G>T variant was classified as likely pathogenic (PM2+PM5+PP1+PP3+PP4) based on the ACMG guidelines. CONCLUSION The c.689G>T and c.1556G>A compound heterozygous variants of the F11 gene probably underlay the pathogenesis of FⅪ deficiency in this pedigree.
Adult ; Humans ; Male ; 3' Untranslated Regions ; East Asian People ; Factor XI/genetics* ; Factor XI Deficiency/genetics* ; Partial Thromboplastin Time ; Pedigree

Objective:To explore the genetic basis for a patient with factor XIII (FXIII) deficiency.Methods:All exons of the F13A1 and F13B genes were amplified by PCR and sequenced directly. The sequencing was performed with a reverse primer if a variant was found. Conservation of variant site was analyzed by the ClustalX software. Four online bioinformatic software including MutationTaster, PolyPhen-2, PROVEAN and SIFT were used to predict the function of the mutation site. The Swiss-PdbViewer software was applied to analyze the changes in the protein model and intermolecular force. Results:The proband was found to harbor a novel c. 515G>C (p.Arg171Pro) variant of the F13A1 gene. The corresponding amino acid Arg171 is conserved among homologous species. Bioinformatic analysis indicated that Arg171Pro variant may affect the protein function. Protein model analysis showed that in the wild-type, there is one hydrogen bond between Arg171 and Pro27; one hydrogen bond between Arg171 and Thr28; two hydrogen bonds between Arg171 and Glu102. When Arg171 was mutated to Pro171, the three hydrogen bonds between Arg171 and Pro27, Glu102 are all disappeared and formed a new benzene ring which might affect the stability of the protein structure. No variant was found in the F13B gene. Conclusion:The Arg171Pro variant may account for the decreased FXIII level. Above finding has enriched the spectrum of F13A1 gene variants.