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1.
Chinese Journal of Orthopaedic Trauma ; (12): 147-153, 2023.
Artigo em Chinês | WPRIM | ID: wpr-992693

RESUMO

Objective:To investigate the efficacy of open exploration, ulnar osteotomy and annular ligament reduction (three-in-one surgery) in the treatment of chronic Monteggia fracture in children.Methods:The data were analyzed retrospectively of the 35 children with chronic Monteggia fracture who had been admitted to Department of Pediatric Orthopaedics, Tianjin University from June 2017 to September 2021. There were 22 boys and 13 girls, and 19 left and 16 right sides, with an age of (6.8±2.5) years. Anterolateral dislocation of the radial head occurred in 30 cases and anterolateral dislocation in 5 ones. The time from injury to operation was (17.9±9.9) months. All patients were treated with three-in-one surgery. The elbow flexion and extension, forearm rotation and The Hospital for Special Surgery (HSS) elbow score were measured and compared in all patients at 12 months after operation. Their complications were also recorded.Results:All children were followed up for 12 months. The osteotomy ends of the ulna achieved bony union 1.5 to 4.0 months after operation. The elbow extension (-1.0°±5.9°) and flexion (128.5°±4.9°) at 12 months after operation were significantly improved compared with those before operation (-9.3°±18.0° and 108.4°±17.3°) ( P<0.05). The forearm pronation (61.5°±19.4°) at 12 months after operation was significantly limited compared with that before operation (72.7°±22.4°) ( P<0.05). There was no significant difference between the forearm supination (86.7°±4.5°) at 12 months after operation and that before operation (81.0°±17.4°) ( P>0.05). The HSS elbow score at 12 months after operation (93.5±5.2) was significantly higher than that (80.6±9.3) before operation ( P<0.05). The efficacy evaluated by the HSS elbow score at 12 months after operation was excellent in 21 cases, good in 12 cases, and fair in 2 cases, giving an excellent and good rate of 94.3% (33/35). Postoperative re-subluxation was observed in one patient. Conclusion:Open exploration, ulnar osteotomy and annular ligament reduction are a safe and effective three-in-one surgery for chronic Monteggia fracture in children, because it may lead to significantly improved elbow flexion and extension after operation, though the forearm pronation may be limited.

2.
Chinese Journal of Orthopaedic Trauma ; (12): 136-141, 2023.
Artigo em Chinês | WPRIM | ID: wpr-992691

RESUMO

Objective:To explore the clinical efficacy of composite pin-rod external fixation in the treatment of open tibial fractures in children.Methods:The clinical data were retrospectively analyzed of the 21 pediatric patients with open tibial fracture who had been treated at Department of Pediatric Orthopeadics, Tianjin University by composite pin-rod external fixation from January 2019 to December 2021. There were 15 boys and 6 girls, and 9 left sides and 12 right sides. The age at the time of operation was (8.6±4.1) months. According to the Gustilo-Anderson classification, there were 3 cases of type Ⅰ, 12 cases of type Ⅱ, 3 cases of type ⅢA, 1 case of type ⅢB, and 2 cases of type ⅢC. Twenty cases had a concomitant fibular fracture, 3 cases multiple injuries, and 3 cases a segmental fracture. All the operations were performed at the emergency department. After debridement, the fractures were reduced and immobilized with a triangle external fixation of composite pin-rod system. In the patients whose conditions permitted, the wounds were closed at one stage, and no other external fixation was added after operation. Wound healing, fracture healing, frame time, knee and ankle functional results and complications were evaluated.Results:All patients were followed up for (20.7±15.8) months. Primary wound closure was achieved in 18 cases; the wound was covered by vacuum sealing drainage after debridement and reverse skin removal in the other 3 cases, of which 2 healed smoothly, and 1 was complicated with superficial infection of Gustilo type ⅢC treated eventually by an anterolateral thigh flap. Fractures healed satisfactorily in 20 cases, with a frame time of (4.5±1.7) months. At the last follow-up, there was no significant difference in the range of motion of the knee and ankle joints on the affected side compared with the uninjured side ( P>0.05). According to the Johner-Wruhs evaluation criteria, the functional recovery was excellent in 16 cases and good in 4 cases. Fracture nonunion happened in one child after skin flap operation, but fracture occurred again after reoperation for fracture, yielding a poor Johner-Wruhs evaluation. Needle tract infection was found in 9 cases but responded to therapy with no other complications. Conclusions:In the treatment of open tibial fractures in children, the composite pin-rod external fixation may lead to satisfactory clinical outcomes. It is easy in operation, provides stable fixation, and allows early rehabilitation after surgery. It can be used as a terminal treatment for wounds that can be closed at one stage.

3.
Chinese journal of integrative medicine ; (12): 413-423, 2023.
Artigo em Inglês | WPRIM | ID: wpr-982289

RESUMO

OBJECTIVE@#To explore the specific pharmacological molecular mechanisms of Kai Xin San (KXS) on treating Alzheimer's disease (AD) based on network pharmacology and experimental validation.@*METHODS@#The chemical compounds of KXS and their corresponding targets were screened using the Encyclopedia of Traditional Chinese Medicine (ETCM) database. AD-related target proteins were obtained from MalaCards database and DisGeNET databases. Key compounds and targets were identified from the compound-target-disease network and protein-protein interaction (PPI) network analysis. Functional enrichment analysis predicted the potential key signaling pathways involved in the treatment of AD with KXS. The binding affinities between key ingredients and targets were further verified using molecular docking. Finally, the predicted key signaling pathway was validated experimentally. Positioning navigation and space search experiments were conducted to evaluate the cognitive improvement effect of KXS on AD rats. Western blot was used to further examine and investigate the expression of the key target proteins related to the predicted pathway.@*RESULTS@#In total, 38 active compounds and 469 corresponding targets of KXS were screened, and 264 target proteins associated with AD were identified. The compound-target-disease and PPI networks identified key active ingredients and protein targets. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis suggested a potential effect of KXS in the treatment of AD via the amyloid beta (A β)-glycogen synthase kinase-3 beta (GSK3 β)-Tau pathway. Molecular docking revealed a high binding affinity between the key ingredients and targets. In vivo, KXS treatment significantly improved cognitive deficits in AD rats induced by Aβ1-42, decreased the levels of Aβ, p-GSK3β, p-Tau and cyclin-dependent kinase 5, and increased the expressions of protein phosphatase 1 alpha (PP1A) and PP2A (P<0.05 or P<0.01).@*CONCLUSION@#KXS exerted neuroprotective effects by regulating the Aβ -GSK3β-Tau signaling pathway, which provides novel insights into the therapeutic mechanism of KXS and a feasible pharmacological strategy for the treatment of AD.


Assuntos
Ratos , Animais , Doença de Alzheimer/tratamento farmacológico , Peptídeos beta-Amiloides , Glicogênio Sintase Quinase 3 beta , Farmacologia em Rede , Simulação de Acoplamento Molecular , Quinase 3 da Glicogênio Sintase/uso terapêutico , Medicamentos de Ervas Chinesas/uso terapêutico
4.
Chinese Journal of Orthopaedics ; (12): 1037-1045, 2022.
Artigo em Chinês | WPRIM | ID: wpr-957097

RESUMO

Objective:To retrospectively analyze and evaluate the effect of interlocking intramedullary nail in the treatment of proximalfemoral fibrous dysplasia (FD) and to discuss its application techniques and treatment strategies.Methods:The patients with proximal femoral FD who received treatment with interlocking intramedullary nail in our department from April 2014 to August 2018 were retrospectively reviewed. The inclusion criteria included having complete data with more than 3 years follow-up. A total of 31 cases with 32 thighs were included in the present study. Among them, there were 24 males and 7 females. The mean age at operation was 11.4±2.3 years. The mean follow-up duration was 3.9±1.1 years. The surgical methods were osteotomy or in situ interlocking intramedullary nailing, and femoral neck reconstruction nails pass through the epiphyseal plate in some cases. Preoperative, postoperative and final follow-up radiographic changes, including femoral neck shaft angle, proximal femoral diaphyseal deformity, and femoral alignment were compared. Univariate analysis of the influencing factors of postoperative femoral neck shaft angle loss.Results:In this group, 13 patients had coxa varus deformity, and the angle of the neck shaft was 107.3±7.1°, and 23 patients had the bending deformity of the proximal femur, and angled 29.5°±9.1°. 10 cases of coxa varus combined with proximal femoral diaphyseal deformity received double osteotomy and internal fixation, 17cases of simple coxa varus or diaphyseal deformity received single osteotomy and internal fixation, and 5 cases had no significant deformity, underwent in situ intramedullary nailing due to pathological fractures and pain. Postoperative femoral neck shaft angle was 133.2°±5.2°. Complete correction of proximal femoral flexion deformity was obtained and the diaphyseal axis was within the normal range. At the last follow-up, the neck shaft angle of 7 patients (21.9%, 7/32) decreased from 133.6°±3.9° to 125.7°±3.4°. Univariate analysis showed that the proportion of neck shaft angle loss in cases with proximal femoral locking nails passing through the epiphyseal plate was significantly lower than that in the cases without (0 vs. 43.8%, χ 2=6.58, P=0.010). Conclusion:The application of interlocking intramedullary nails in the treatment of proximal femoral fibrous dysplasia can achieve good results, according to the situation of coxa varus or diaphysis bending deformity, single or double osteotomy can be performed. There is a risk of femoral neck shaft angle loss after surgery, which can be avoided by femoral neck reconstruction locking screw fixation crossing epiphyseal plate.

5.
Chinese Journal of Orthopaedics ; (12): 492-499, 2022.
Artigo em Chinês | WPRIM | ID: wpr-932858

RESUMO

Objective:To evaluate the feasibility of CT volume rendering technology in the assessment of the physeal bar in children.Methods:A retrospective analysis of the relevant CT data of 20 patients with physeal bar from January 2019 to December 2021, 13 boys and 7 girls, age 9.94±2.91 years. The etiology included 17 cases of trauma, 1 cases of tumor, and 2 cases of unknown. The affected sites included 9 cases of distal femur, 5 cases of proximal tibia, 3 cases of distal tibia, and 3 cases of distal radius. Evaluate using volume rendering technology and traditional surface reconstruction technology respectively and the index include the size and type of physeal bar.Results:All the children were successfully examined at one time, and none of them required sedation. The average exposure time was 3.81±0.83 s. During scanning, only low-dose radiation was performed on the affected joints, and routine radiation protection was performed. Using volume rendering technology to evaluate the proportion of the physeal bar, the results obtained by the three testers were 25.36%±15.36%, 24.75%±16.18%, 26.70%±17.72%, and the intraclass correlation coefficient value ( ICC) was 0.976, the three repeated measurements by one tester were 25.36%±15.36%, 25.41%±15.20%, 25.74%±16.00% ( ICC=0.990). Compared with the traditional curved planar reconstruction technical evaluation, the results obtained by the three testers were 28.36%±16.74%, 23.66%±19.87%, 35.25%±15.92% ( ICC=0.737), the three repeated measurement results by one tester were 28.36%±16.74%, 31.66%±13.06%, 30.89%±12.52% ( ICC=0.875). The volume rendering technology was better than the curved planar reconstruction technique. Paired t test was performed on the measurement results of three evaluators and the three repeated measurements of the same evaluator, and the differences were statistically significant ( P<0.05). The same results were acquired by using volume rendering technology to evaluate the type of phseal bar with three testers; but there were 18 cases had the same results by using curved planar reconstruction technology and 2 cases had differences, showing the volume rendering technology was more accurate. Conclusion:Low-dose CT scanning volume rendering technology is an effective method to evaluate the physeal bar in children. It can more intuitively and accurately evaluate the proportion and type of the bar while reducing the radiation exposure of children. The consistency with inter-group and intra-group is better than traditional curved planar reconstruction technique with good reproducibility and clinical significance.

6.
Chinese Journal of Orthopaedics ; (12): 1144-1151, 2021.
Artigo em Chinês | WPRIM | ID: wpr-910701

RESUMO

Objective:Course of evolution observed relatively early Perthes disease in children surgically treated and conservative, explore the significance of early surgical treatment of Perthes disease.Methods:From January 1997 to December 2017, 632 children with Perthes disease were admitted. According to the inclusion and exclusion criteria, a total of 67 children were included in this study. Surgical group: 35 cases, 32 males and 3 females, age ranged from 7.0 to 11.8 years, with an average 8.3±1.0 years old, 21 cases on the left side and 14 cases on the right side. Conservative group: 32 cases, 24 males and 8 females, age ranged from 7.1 to 12.0 years old, with an average of 8.4±1.4 years old, 22 cases on the left side and 10 cases on the right side. The pelvic orthosis and frog position were taken every 3 months, and the evolution of Perthes disease was evaluated by referring to the modified Waldenstr?m staging. In the series of observations, no modified Waldenstr?m IIb stage was found to skip the fragmentation stage. After the healing period, the pelvic orthosis and frog position were evaluated according to the Stulburg classification results, and the ratio of the width of the metaphyseal end of the affected side to the contralateral side and the height of the femoral head epiphysis were measured.Results:The time required to enter stage IIIa, surgical group: range from 0.1 to 1.5 years, with an average of 0.58±0.33 years, conservative group: range from 0.4 to 1.8 years, with an average of 0.96±0.30 years, it takes both to enter the repair phase The time difference was statistically significant ( t=5.259, P<0.05); children whose disease course skipped the fragmentation stage, surgical group: 11 cases (31%), conservative group: 5 cases (16%), the difference is statistically significant ( χ2=22.626, P<0.05). The ratio of the affected side to the uninfected side of the metaphysis: surgical group: range 101%-123%, with an average of 108.0%±6.0%. Conservative group: range 101%-148%, with an average of 115.8%±11.2%. The difference in the ratio between the affected side and the healthy side of the metaphysis was statistically significant ( t=3.450, P<0.05). The ratio of the affected side to the healthy side of the height of the femoral head epiphysis: surgical group: range 61%-96%, with an average of 82.5%±8.2%. Conservative group: range 33%-92%, with an average of 74.7%±1.3%. There was a statistically significant difference in the ratio of the height of the femoral head epiphysis between the affected side and the healthy side ( t=2.921, P<0.05). Stulberg classification, surgical group: Type I hip joints 29 hips, Type II hip joints 6 hips, Type III hips 0 hips; conservative group: Type I hips 16 hips, Type II hips 10 hips, Type III hips 6 hips. There was a statistically significant difference in the Stulberg classification after the two entered stage IV ( Z=3.386, P<0.05). Conclusion:Early surgery changed the natural evolution of Perthes disease. Early surgical treatment shortens the fragmentation period of Perthes disease, so that it enters the repair phase ear-lier, and has the opportunity to skip the late fragmentation period and change its natural course. After healing, the morphological change of the proximal femur is closer to normal.

7.
Chinese Journal of Orthopaedics ; (12): 992-1000, 2021.
Artigo em Chinês | WPRIM | ID: wpr-910682

RESUMO

Objective:To analyze the risk factors of avascular necrosis (AVN) after closed reduction and spcia casting in treating developmental dysplaisa of the hip (DDH).Methods:The patients with DDH who received closed reduction in our department from January 2016 to December 2017 were retrospectively reviewed. The inclusion criteria included aged at reduction ≥6 months, achieving successful reduction, having complete data with more than 2 years follow-up. A total of 48 cases with 54 hips were included in the present study. Among them, there were 2 males and 46 females, 41 unilateral hips and 13 bilateral hips. The mean age at closed reduction was 16.4±3.8 months (range 6-24 months). The mean follow-up duration was 2.9±1.8 years (range 2.3-4.1 years). Closed reduction was conducted under general anesthesia followed with a spcia cast immobilization. The abduction angle of the cast was recorded. The stability of reduction was evaluated by Ramsey safety zone. The maximum abduction and re-dislocation abduction were recorded. The quality of reduction was evaluated by the medial gap and femoral head coverage on intraoperative arthrography and post-reduction MRI. AVN was diagnosed according to Salter criteria. The risk factors of AVN were analyzed by univariate and binary logistic regression analysis.Results:AVN occurred in 12 hips (22.2%) of 54 hips. International Hip Dysplasia Institute (IHDI) grade and the difference between maximum abduction and cast abduction (Max-Cast abduction) were related to the occurrence of AVN in univariate analysis. The incidence of AVN in hips of IHDI grade 4 (42.9%, 9/21) was significantly higher than that in hips of IHDI grade 3 (9.7%, 3/31) (χ 2=6.007, P=0.018). However, the hips of IHDI grade 3 and 2 (0%, 0/2) presented a similar incidence of AVN (χ 2=0.000, P=1.000). The Max-Cast abduction was -0.7°±5.9° in the AVN group and 6.1°±7.6° in the AVN group ( t=2.125, P=0.038). Finally, IHDI grade ( OR=8.256, P=0.015) and Max-Cast abduction ( OR=0.832, P=0.047) were both independent factors of AVN in multivariate analysis. Conclusion:Most of the hips with AVN are IHDI grade 4 after closed reduction for DDH. The abduction angle in a spica cast could not be significantly related to the occurrence of AVN. However, the risk of AVN might be increased when the cast abduction is close to or beyond the maximum abduction. Safe abduction in the cast should be 5 to 10 degrees less than maximum abduction at least.

8.
Chinese Journal of Orthopaedics ; (12): 780-789, 2021.
Artigo em Chinês | WPRIM | ID: wpr-910659

RESUMO

Objective:Comparing with the external fixator technique, investigate the clinical effect of fixator-assisted plating technique for treatment distal femoral valgus deformity in adolescent.Methods:A retrospective analysis of the relevant data of 22 patients (25 limbs) with acute correction of distal femoral valgus deformities from July 2015 to June 2019, according to the difference of the final fixation, they were divided two groups. The fixator-assisted plating group, including 8 patients (9 limbs), 5 boys and 3 girls, 5 left and 2 right, 1 bilateral, the physis were closed in 4 cases and opened in 4 cases, age 14.04±1.99 years (11.7-18 years). The external fixator group, including 14 patients (16 limbs), 6 boys and 8 girls, 8 left and 4 right, 2 bilateral, the physis were closed in 9 cases and opened in 5 cases, age 13.33±1.88 years (10.1-16.5 years). Measuring the mechanical axis deviation (MAD) and the mechanical lateral distal femur angle (mLDFA) in full length standing AP view X-ray of the lower limb pre and post operation. Recording the changed of limb length discrepancy (LLD) before and after surgery and the knee range of motion at 6 weeks, 3 months, 6 months and the last follow up post operation. The Kolcaba comfort status scale was used to evaluate the comfort of two groups at 2 weeks, 6 weeks, 3 months, 6 months and the last follow up. Meanwhile recorded the healing time of osteotomy sites and the complications.Results:The difference in general information between the two groups was not statistically significant. The fixator-assisted plating group followed up mean 26 months (range, 12-40 months), the healing time were 4.00±0.66 months, the mLDFA mean 73.33°±4.12° before surgery and 87.89°±1.69° after surgery and there was significant difference ( t=10.582, P<0.05). The external fixator group followed up mean 36 months (range, 22-42 months), the healing time were 4.00±0.66 months, the mLDFA mean 73.31°±3.95° before surgery and 87.31°±1.54° after surgery and there was significant difference ( t=14.118, P<0.05). The MAD were in the normal range in all patients after surgery, and there were no significant difference about healing time of the osteotomy sites and postoperative mLDFA between the two groups ( t=1.514, P=0.150; t=0.845, P=0.411). Comparing with the knee function, the fixator-assisted plating group was better at 6 weeks, 3 months, 6 months after surgery but there was no difference at the last follow up. Also, the fixator-assisted plating group felt more comfortable at 2 weeks, 6 weeks, 3 months, 6 months and there was no difference at the last follow up. All the patients with external fixator have mild pin sites infection and there were no obvious complications in patients with plate. Conclusion:The fixator-assisted plating technique can accurately correct the valgus deformity with satisfactory healing of the osteotomy in distal femoral compare with the external fixator technique, but the patients feel more comfortable and the knee joint function recovers faster and no risk of pin site infection, the clinical results was satisfactory with fewer complication.

9.
Chinese Journal of Neurology ; (12): 454-459, 2020.
Artigo em Chinês | WPRIM | ID: wpr-870829

RESUMO

In recent years, the number of patients who have lost their mobility due to neurological diseases such as stroke and spinal cord injury has been increasing. Guidelines state that early and scientific rehabilitation training is essential to improve prognosis and quality of life. However, existing rehabilitation methods rely on therapists to train one-on-one or many-to-one, which is not sufficient to meet clinical needs. As a new technology, the exoskeleton robot provides a unique rehabilitation program for patients with lower limb movement disorders, which has become a hot research topic at home and abroad, and related clinical research is also being carried out rapidly. This review summarizes the clinical research progress of exoskeleton robots in patients with lower limb movement disorders caused by nervous system damage in the past ten years, and the prospect of research, development, and clinical promotion about exoskeleton robots.

10.
Chinese Journal of Medical Genetics ; (6): 1183-1186, 2019.
Artigo em Chinês | WPRIM | ID: wpr-799972

RESUMO

Objective@#To identify the type and origin of ATP7B gene mutation in a family affected with Wilson disease by combined use of multiple methods.@*Methods@#Peripheral blood samples were collected from the proband, her parents and her brother. Sanger sequencing were used to detect point mutation and small deletion/insertion of the 21 exons and flanking sequences of the ATP7B gene in all family members. Array-based comparative genomic hybridization (aCGH) was performed to identify copy number variations (CNVs) of the ATP7B gene in the proband. The result was validated by quantitative PCR (qPCR) in other 3 members.@*Results@#Sanger sequencing indicated that the proband carried a heterozygous variation c. 2668G>A (p.V890M) derived from her mother. In addition, 5 common SNPs were detected in her mother, three of which were also identified in her father and brother. The 5 SNPs in the proband were of the wide type. aCGH analysis demonstrated that the proband was heterozygous for a 4 kb deletion, which encompassed exons 2 and 3 of the ATP7B gene and 2 SNPs. qPCR showed that the copy number in her father and brother was about half of the control, indicating heterozygous loss of exons 2 and 3.@*Conclusion@#The combined Sanger sequencing, array CGH and qPCR has identified a novel CNV involving the ATP7B gene. The strategy can improve the diagnostic rate for hereditary or rare diseases.

11.
Chinese Journal of Digestion ; (12): 555-561, 2019.
Artigo em Chinês | WPRIM | ID: wpr-756309

RESUMO

Objective To assess the safety of infliximab (IFX) treatment in patients with Crohn's disease(CD).Methods From January 2009 to May 2018,at inflammatory bowel disease (IBD) center of Sir Run Run Shaw Hospital,School of Medicine,Zhejiang University,486 CD patients received the treatment of IFX were enrolled and their clinical data were collected.Univariate and multivariate regression of binary logistic were performed for statistical analysis.Results The median follow-up duration was 31.1 months (12.0 months to 40.0 months).The median duration of IFX therapy was 13.0 months (7.0 months to 21.0 months).Among 486 patients,98 (20.16%) patients reported adverse effects,and 12 (2.47%) patients discontinued the therapy because of adverse effects.Acute infusion reaction was the most common adverse effect in CD patients who received IFX treatment accounting for 41.84% (41/98) of all the adverse effects,and the incidence was 8.44%.Thirty-nine patients had mild and moderate infusion reaction,and all improved after symptomatic treatment (eight patients discontinued IFX therapy because of recurrent infusion reaction).Two patients developed severe infusion reaction as allergic shock,and both relieved after emergency rescue.Four patients developed late-phase allergic reactions.Among 486 patients,39 (8.02%) patients had infections,including infections of Clostridium difficile,cytomegalovirus,herpeszoster virus,Mycobacterium tuberculosis,and other opportunistic pathogens.There was no cases of infection related death.Thirty-six patients continued with IFX treatment after infection controlled.Among 486 patients,14 (2.88%) patients had severe infection,and all the cases improved after anti-infection treatment.Twenty-seven CD patients with hepatitis B virus (HBV) infection received anti-viral treatments,no active HBV infection was observed.Colon adenocarcinoma was found in one patient under colonoscopy at 22 months after discontinuation of IFX therapy.There were six patients with the history of benign tumors,and no evidence of recurrence,progress or malignancy during treatment.In terms of other rare adverse effects in 486 patients,there were eight (1.64%) patients with liver function injury,two (0.41%) patients with anemia,one (0.21%) patient with peripheral neuropathy,and four (0.82%) patients with skin lesion.Prolonged duration of IFX therapy,without combination of immune-suppressors and with increased baseline body mass index (BMI) were the risk factors of acute infusion reactions.Prolonged duration of IFX therapy and with low baseline albumin level were the risk factors of infections.Conclusions IFX is generally safe as the treatment for CD patients,and its adverse effects can be clinically controlled.Screening before therapy and monitoring during therapy may reduce the risks of adverse effects.

12.
Chinese Journal of Medical Genetics ; (6): 1183-1186, 2019.
Artigo em Chinês | WPRIM | ID: wpr-781321

RESUMO

OBJECTIVE@#To identify the type and origin of ATP7B gene mutation in a family affected with Wilson disease by combined use of multiple methods.@*METHODS@#Peripheral blood samples were collected from the proband, her parents and her brother. Sanger sequencing were used to detect point mutation and small deletion/insertion of the 21 exons and flanking sequences of the ATP7B gene in all family members. Array-based comparative genomic hybridization (aCGH) was performed to identify copy number variations (CNVs) of the ATP7B gene in the proband. The result was validated by quantitative PCR (qPCR) in other 3 members.@*RESULTS@#Sanger sequencing indicated that the proband carried a heterozygous variation c.2668G>A (p.V890M) derived from her mother. In addition, 5 common SNPs were detected in her mother, three of which were also identified in her father and brother. The 5 SNPs in the proband were of the wide type. aCGH analysis demonstrated that the proband was heterozygous for a 4 kb deletion, which encompassed exons 2 and 3 of the ATP7B gene and 2 SNPs. qPCR showed that the copy number in her father and brother was about half of the control, indicating heterozygous loss of exons 2 and 3.@*CONCLUSION@#The combined Sanger sequencing, array CGH and qPCR has identified a novel CNV involving the ATP7B gene. The strategy can improve the diagnostic rate for hereditary or rare diseases.


Assuntos
Feminino , Humanos , Masculino , Hibridização Genômica Comparativa , ATPases Transportadoras de Cobre , Genética , Variações do Número de Cópias de DNA , Análise Mutacional de DNA , Degeneração Hepatolenticular , Genética , Heterozigoto , Mutação , Reação em Cadeia da Polimerase
13.
Journal of Experimental Hematology ; (6): 1696-1700, 2019.
Artigo em Chinês | WPRIM | ID: wpr-775663

RESUMO

Abstract  The promyelocytic leukemia (PML) gene encoded PML protein as a tumor suppressor protein, plays important roles in the occurrence and development of various cancers including acute promyelocytic leukemia. Recent studies have indicated that there are a variety of post-translational modifications of the PML protein, such as SUMOylation, ubiquitination, phosphorylation, and acetylation in cells. These modifications of the PML protein can directly affect the formation of PML nuclear bodies (PML-NBs), repair DNA damage, and modulate cell apoptosis. Furthermore, the abnormal modifications of PML not only result in the occurrence of hematopoietic tumors, but also are closely related to the drug-resistance of cancer. Therefore, investigating the post-translational modifications of PML is significant to uncover the mechanism of formation and functions of PML-NBs, thus contributing to the prevention and treatment of related hematopoietic tumors. In this review, the characteristics of the post-translational modifications of PML protein and the relationship between these modifications and functions of PML-NBs are summarized so as to provide the potential targets for the treatment of related cancers.


Assuntos
Humanos , Corpos de Inclusão Intranuclear , Leucemia Promielocítica Aguda , Proteínas Nucleares , Proteína da Leucemia Promielocítica , Processamento de Proteína Pós-Traducional
14.
Chinese Mental Health Journal ; (12): 185-190, 2018.
Artigo em Chinês | WPRIM | ID: wpr-704000

RESUMO

Objective: To explore school counselors' attitude and decision-making towards dual relationship and confidentiality. Methods: Totally 123 school counselors (27 males and 96 females, aged 20 to 60 years old, 41 primary and secondary counselors, 82 college counselors) filled up of self-designed Questionnaire for School Psychological Consultants on Dual Relationship and Confidentiality Rules, and the related factors which could influence the school counselors' attitude and their decision-making in dual relationship and confidentiality in the counseling work. Results:Totally 71.5% (n =88) school counselors chose not to accept other relationships with students after counseling, 14.6% (n = 18) school counselors chose to accept other relationships with students after counseling. The school counselors who had not accepted supervisioneasier to answer as "accept other relationship may raise clients self-esteem or feelings" than those had got supervision (P <0.05). The school counselor believed that the confidentiality agreement should be breached of the top 3(suicide attention, drug use and bad gangs). Counselors easier to breach confidentiality agreements on situation of students had suicide plans than situation of students had plans to run away from home(P <0.001). Conclusion:This study shows that two factors, including supervision and differential clients "issue may have effect on school counselors" attitudes and decision-making towards dual relationship and confidentiality situation in their counseling practice.

15.
Chinese Journal of Anesthesiology ; (12): 133-137, 2018.
Artigo em Chinês | WPRIM | ID: wpr-709705

RESUMO

Objective To determine the risk factors for postoperative residual paralysis in patients undergoing general anesthesia and establish the warning score system initially.Methods A total of 369 patients who underwent general anesthesia and developed residual paralysis after returning to the recovery room and 740 patients who did not developed residual paralysis were enrolled in the study.Logistic regression was used to analyze the factors of which P values were less than 0.05 to identify the independent risk factors for postoperative residual paralysis.The warning score system was established initially according to the odds ratios of each risk factor,and the area under receiver operating characteristic curve was used to evaluate the predicting ability of the system.Results Logistic regression analysis showed that the consumption of cisatracurium more than 0.4 mg · kg-1 · h-1,time from the last administration of muscle relaxants to the end of operation less than 60 min and volume of intraoperative fluid infused more than 20 ml/kg were independent risk factors for postoperative residual paralysis in patients undergoing general anesthesia.The warning score system of residual paralysis was established initially,and the area under receiver operating characteristic curve was 0.82.The best cut-off value of predicting residual paralysis was 1.5 (sensitivity 63.5%,specificity 82.7%,Youden index 0.462),and thus the risk stratification criteria were determined initially with score less than or equal to 1 predicting low risk,and score more than or equal to 2 predicting high risk.Conclusion The consumption of cisatracurium more than 0.4 mg · kg-1 · h-1,time from the last administration of muscle relaxants to the end of operation less than 60 min and volume of intraoperative fluid infused more than 20 ml/kg are independent risk factors for postoperative residual paralysis in patients undergoing general anesthesia;the initially established warning score system produces higher accuracy in predicting postoperative residual paralysis.

16.
West China Journal of Stomatology ; (6): 325-330, 2018.
Artigo em Chinês | WPRIM | ID: wpr-688013

RESUMO

Saliva is being attached great importance for its application in illness diagnosis and have more advantage on the diagnose in oral cavity cancer (OCC). Studies have showed that interleukin (IL) in the saliva could be used as a potential biomarker for OCC diagnosis. Moreover, they have a close connection with tumor genesis, invasion, and metastasis in OCC. Therefore, we reviewed research progress on the relationship between salivary interleukins and OCC.

17.
Chinese Journal of Organ Transplantation ; (12): 425-429, 2018.
Artigo em Chinês | WPRIM | ID: wpr-755896

RESUMO

Objective To evaluate the intraoperative condition and prognosis of extracorporeal memberane oxygenation (ECMO) in patients with idiopathic pulmonary fibrosis (IPF) undergoing single lung transplantation.Methods Fifty-five patients (49 males and 6 females,aged 18-75 years,ASA physical status Ⅲ or Ⅳ) undergoing single lung transplantation were divided into ECMO group (E group,n =41) and control group (C group,n =15).Lung ischemia time,operative time,intraoperative crystal fluid volume,intraoperative colloids fluid volume,total fluid volume,albumin volume,bleeding volume,blood transfusion volume and urine volume were recorded.ECMO time,extubation time,the length of ICU stay and postoperative hospital stay were assessed.Results There was no significant difference in lung ischemia time,operative time,intraoperative crystal fluid volume,intraoperative colloids fluid volume,total fluid volume,albumin volume,bleeding volume,volume of blood transfusion,urine volume,ECMO time,extubation time,the length of ICU stay,postoperative hospital stay and mortality rate during hospitalization between the two groups.Blood plasma volume was significantly more in E group (9.3 ± 4.5 mL/kg) than that in C group (5.4 ± 4.2 mL/kg;P<0.01).ECMO time was positively related to extubation time,the length of ICU stay and mortality rate during hospitalization (P<0.01).Conclusion ECMO does not affect intraoperative condition and prognosis of patients.According to ECMO time we can judge the prognosis of patients.

18.
Acta Academiae Medicinae Sinicae ; (6): 145-149, 2017.
Artigo em Inglês | WPRIM | ID: wpr-277885

RESUMO

Objective To investigate the independent risk factors and the prognosis of reintubation following surgeries under general anesthesia in post-anesthesia care unit (PACU). Methods  We retrospectively analyzed the clinical data of 14 407 patients undergoing elective surgeries from October 2013 to October 2014 in the China-Japanese Friendship Hospital. Patients were divided into reintubation group and control group according to the application of reintubation (or not) in PACU. Multivariate Logistic analysis was performed for factors showing significant difference between these two groups to screen for risk factors and analyze the prognosis. Results  Sixteen patients (0.11%) were reintubated in PACU.The Logistic regression analysis showed that the independent risk factors for reintubation were as following:preoperative chronic obstructive pulmonary disease (COPD)(OR=17.55,95%CI :3.08-59.84,P=0.001) or preoperative coronary artery disease (OR=5.98,95%CI :1.67-21.42,P=0.006),intraoperative blood loss greater than 12 ml·kg-1 (OR=27.83,95%CI :10.75-54.62,P <0.001),and thoracic surgery (OR=22.96,95%CI :12.66-48.19,P=0.004). Conclusion s Preoperative COPD or coronary artery disease,intraoperative blood loss greater than 12 ml·kg-1,and thoracic surgery are the independent risk factors for postoperative PACU reintubation of patients undergoing surgeries with general anesthesia.Although the mortality rate is relative high,most patients have a good prognosis.


Assuntos
Humanos , Anestesia Geral , Perda Sanguínea Cirúrgica , China , Doença da Artéria Coronariana , Intubação Intratraqueal , Período Pós-Operatório , Prognóstico , Doença Pulmonar Obstrutiva Crônica , Estudos Retrospectivos , Fatores de Risco , Procedimentos Cirúrgicos Torácicos
19.
Chinese Journal of Orthopaedics ; (12): 399-405, 2016.
Artigo em Chinês | WPRIM | ID: wpr-491175

RESUMO

Objective To compare the early treatment results of Pavlik harness and closed reduction plus spica cast?ing in treating developmental dislocation of the hips (DDH). Methods The patients with GrafⅢ/Ⅳtype DDH diagnosed by ul?trasound in our hospital were analyzed retrospectively from January 2009 to December 2013. The subjects with intact clinical and radiologic data and more than 2 years follow?up were included. The present study included 257 patients (298 hips), 31 male and 226 female, with the average age of 74.1±39.2 d (from 30 to 159 d). Pavlik harness underwent in 190, while 67 cases were treated with closed reduction plus spica casting. Acetabular index (AI), Wiberg OE angle (point O was the middle point of proximal me?taphyseal border) and Smith instability index (SI, SI?c:the lateral displacement index, SI?h:the vertical displacement index) on the pelvic X?ray film at 2-3 years of age after successful early treatment were recorded. Femoral head avascular necrosis (AVN) was diagnosed according to the Salter criteria. Results The success rate of reduction of closed reduction was significantly higher than Pavlik harness (97.5% vs. 69.9%, χ2=0.353, P=0.000). There was no significant difference in the incidence of AVN be?tween the closed reduction and Pavlik harness (6.6% vs. 4.6%, χ2=0.106, P=0.745). For GrafⅢ type DDH, the success rate of reduction of Pavlik harness and closed reduction were 80.7% and 98.4% respectively (χ2=11.248, P=0.001), while the Pavlik harness group had significantly worse results of AI, OE and SI?c at the age of 2-3 years (Pavlik harness: 22.9°±3.7°, 16.5°± 6.3° and 0.74 ± 0.06; closed reduction: 21.4° ± 3.4° , 18.9° ± 3.6° and 0.72 ± 0.03; P<0.05). For GrafⅣ type DDH, the success rate of reduction of Pavlik harness was much less than closed reduction (25.6% vs. 94.4%, χ2=24.231, P=0.001), with signifi?cantly worse results of OE at the age of 2-3 years (16.0°±4.1° vs. 18.6°±4.5°, t=-2.141, P=0.038). Conclusion Pavlik har?ness has limitations in treating GrafⅢ/Ⅳtype DDH, with lower success rate of reduction for GrafⅣtype DDH. Closed reduction plus spica casting has better clinical results than Pavlik harness in success rate of reduction and subsequent hip development with? out the additional risk of AVN.

20.
The Journal of Practical Medicine ; (24): 1753-1756, 2016.
Artigo em Chinês | WPRIM | ID: wpr-494470

RESUMO

Objective To establish a simple and practical superparamagnetic immunochromatographic test strip for rapidly monitoring human serum level of CA72-4. Methods Water-soluble carboxylated super-paramagnetic nanoparticles were prepared with a modified one-step hydrothermal synthesis method. Magnetic probe was prepared by immobilizing specific antibody (mAb1) onto the surface of nanoparticles. Following with optimization and assembly of the test strip , we evaluated sensitivity , specificity , stability of this method for serum CA72-4 detection. Results The optimized test strip provided not only the qualitative results, but also the high sensitivity quantitative detection through stable magnetic signal. The detection limit was 0.83 IU/mL. One hundred clinical samples ( 70 positive and 30 negative ) were measured to assess these test strips with high sensitivity (99%) and high specificity (93%). The test strip and magnetic signal possessed high stability. Conclusion A rapid and quantitative detection of CA72-4 by the test strip was accomplished. This method is rapid, sensitive and quantitative, possessing great potential in large sample screening or in-home testing.

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