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1.
Arq. bras. cardiol ; 120(10): e20220874, 2023. graf
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1520122

ABSTRACT

Resumo Fundamento Apesar das evidências crescentes de que pacientes com insuficiência cardíaca (IC) são suscetíveis à sarcopenia, o motivo da associação não é bem compreendido. Objetivo O objetivo deste estudo é explorar ainda mais o mecanismo molecular de ocorrência desta complicação. Métodos Conjuntos de dados de expressão gênica para HF (GSE57345) e Sarcopenia (GSE1428) foram obtidos do banco de dados Gene Expression Omnibus (GEO). Genes diferencialmente expressos (DEGs) foram identificados usando pacotes 'edgeR' e "limma" de R, e suas funções foram analisadas usando Gene Ontology (GO) e a Enciclopédia de Genes e Genomas de Kyoto (KEGG). Redes de interação proteína-proteína (PPI) foram construídas e visualizadas usando Search Tool for the Retrieval of Interacting Genes (STRING) e Cytoscape. Os genes hub foram selecionados usando o plugin cytoHubba e validados com GSE76701 para IC e GSE136344 para Sarcopenia. As vias relacionadas e os mecanismos moleculares dos genes hub foram realizados pela análise de enriquecimento de genes (GSEA). As análises estatísticas foram realizadas no software R. P < 0,05 foi considerado estatisticamente significativo. Resultados Foram encontrados 114 DEGs comuns. As vias relacionadas ao fator de crescimento, secreção de insulina e cGMP-PKG estavam enriquecidas tanto na IC quanto na sarcopenia. Descobriu-se que CYP27A1, KCNJ8, PIK3R5, TIMP2, CXCL12, KIT e VCAM1 são genes hub significativos após validação com GSEA enfatizando a importância dos genes hub na regulação da resposta inflamatória. Conclusão Nosso estudo revela que a IC e a Sarcopenia compartilham vias e mecanismos patogênicos comuns. Estes achados podem sugerir novas direções para pesquisas futuras sobre a patogênese subjacente.


Abstract Background Despite increasing evidence that patients with heart failure (HF) are susceptible to sarcopenia, the reason for the association is not well understood. Objective The purpose of this study is to explore further the molecular mechanism of the occurrence of this complication. Methods Gene expression datasets for HF (GSE57345) and Sarcopenia (GSE1428) were obtained from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) were identified using 'edgeR' and "limma" packages of R, and their functions were analyzed using Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG). Protein-protein interaction (PPI) networks were constructed and visualized using Search Tool for the Retrieval of Interacting Genes (STRING) and Cytoscape. Hub genes were selected using the plugin cytoHubba and validation with GSE76701 for HF and GSE136344 for Sarcopenia. The related pathways and molecular mechanisms of the hub genes were performed by Gene set enrichment analysis (GSEA). The statistical analyses were performed using R software. P < 0.05 was considered statistically significant. Results A total of 114 common DEGs were found. Pathways related to growth factor, Insulin secretion and cGMP-PKG were enriched in both HF and Sarcopenia. CYP27A1, KCNJ8, PIK3R5, TIMP2, CXCL12, KIT, and VCAM1 were found to be significant hub genes after validation, with GSEA emphasizing the importance of the hub genes in the regulation of the inflammatory response. Conclusion Our study reveals that HF and Sarcopenia share common pathways and pathogenic mechanisms. These findings may suggest new directions for future research into the underlying pathogenesis.

2.
Chinese Journal of Applied Clinical Pediatrics ; (24): 431-437, 2023.
Article in Chinese | WPRIM | ID: wpr-990055

ABSTRACT

Objective:To summarize the clinical data of anti-factor H antibody-associated atypical hemolytic uremic syndrome (aHUS) in children, and analyze the risk factors for disease recurrence and poor prognosis.Methods:A prospective cohort study was conducted on 52 children with anti-factor H antibody-associated aHUS in Beijing Children′s Hospital, Capital Medical University from November 2011 to November 2021.Patient information about the genetic background, clinical and renal pathological characteristics, treatment, and prognosis were collected.Then, the disease recurrence and prognosis were analyzed using the survival curve and Cox regression model. Results:In 52 children, there were 33 males and 19 females.The average age of onset for aHUS was 2.4-12.8 years, and 92.3%(48/52) of the children developed symptoms at the age of 4-12 years.The copy numbers of complement factor-H-related 1 (CFHR1) and complement factor-H-related 3 (CFHR3) genes were calculated in 42 children.Among the 42 cases, 18 cases (42.9%) had CFHR1 homozygous deletion, and 83.3% (15/18) of them also had CFHR3 homozygous deletion.All the patients were given plasma therapy.Besides, 76.9% (40/52) of the children were treated with immunosuppressive therapy (steroid and/or immunosuppressant) at the first onset of the disease.About 86.5%(45/52 cases) of the patients received immunosuppressive therapy in the course of disease, and the immunosuppressive treatment lasted for 6-20 months in total.The median follow-up time was 58 (28, 91) months.Among 52 patients, only 12 patients (23.1%) suffered disease recurrence.The relapse-free survival rate in children with CFHR1 homozygous deletion was significantly lower than that in children with non-homozygous deletion ( χ2=4.700, P=0.030). The relapse-free survival rate in children with CFHR1 and CFHR3 homozygous deletions was also significantly lower than that in other children ( χ2=4.181, P=0.041). At the end of the follow-up, 73.1%(38/52) of the children had normal renal function and no persistent proteinuria or hypertension.23.1%(12/52 cases) of the children had persistent proteinuria and/or hypertension.One child had Stage 3-4 chronic kidney disease, and 1 child was dialysis dependent. Conclusions:Anti-factor H antibody-associated aHUS is prone to occur in children aged between 4-12 years old, who respond well to plasma therapy and immunosuppressive therapy.Children with anti-factor H antibody-associated aHUS and CFHR1 and CFHR3 homozygous deletions have a high recurrence rate.Treatment with immunosuppressive therapy and assessment of the copy number of CFHR1 and CFHR3 genes in the early stage of the disease are important for preventing disease recurrence and improving prognosis.

3.
Chinese Journal of Applied Clinical Pediatrics ; (24): 427-430, 2023.
Article in Chinese | WPRIM | ID: wpr-990054

ABSTRACT

Atypical hemolytic uremic syndrome (aHUS) is a rare acute and critical disease in childhood, which is easy to lead to acute kidney injury, and has a high mortality rate and chronic kidney disease incidence if not diagnosed and treated in time.According to the etiology, aHUS can be classified into hereditary and acquired.Anti-factor H antibody associated aHUS is acquired and mainly occurs in children aged 5 to 15 years.Anti-factor H antibody associated aHUS is strongly associated with homozygous deletion of the complement H related protein 1/3 (CFRH1/3) gene.In recent years, there have been significant advances in the etiology, genetics, and immunology of aHUS, especially the treatment of Eculizumab, which has greatly improved the prognosis of the disease.However, at present, there are still problems that need to be solved in the pathogenesis, diagnosis, treatment and prognosis of antibody-related aHUS, and this article will discuss the above content and put forward corresponding prospects to provide reference for clinical and scientific research.

4.
Journal of Integrative Medicine ; (12): 106-115, 2023.
Article in English | WPRIM | ID: wpr-971643

ABSTRACT

OBJECTIVE@#Melittin, a cell-penetrating peptide, improves the efficiency of many non-viral gene delivery vectors, yet its application in viral vectors has not been well studied. The non-pathogenic recombinant adeno-associated virus (rAAV) vector is an ideal in vivo gene delivery vector. However, its full potential will only be achieved after improvement of its transduction efficiency. To improve the transduction efficiency of rAAV2 vectors, we attempted to develop a melittin-based rAAV2 vector delivery strategy.@*METHODS@#The melittin peptide was inserted into the rAAV2 capsid either in the loop VIII of all viral proteins (VPs) or at the N terminus of VP2. Various rAAV2-gfp or -fluc vectors were subjected to quantitative real-time polymerase chain reaction and Western blot assays to determine their titers and integrity of capsid proteins, respectively. Alternatively, the vectors based on wild-type capsid were pre-incubated with melittin, followed by transduction of cultured cells or tail vein administration of the mixture to C57BL/6 and BALB/c nude mice. In vivo bioluminescence imaging was performed to evaluate the transgene expression.@*RESULTS@#rAAV2 vectors with melittin peptide inserted in the loop VIII of VPs had low transduction efficiency, probably due to dramatically reduced ability to bind to the target cells. Fusing the melittin peptide at the N-terminus of VP2 produced vectors without the VP2 subunit. Interestingly, among the commonly used rAAV vectors, pre-incubation of rAAV2 and rAAV6 vectors with melittin significantly enhanced their transduction efficiency in HEK293 and Huh7 cells in vitro. Melittin also had the ability to increase the rAAV2-mediated transgene expression in mouse liver in vivo. Mechanistically, melittin did not change the vector-receptor interaction. Moreover, cell counting kit-8 assays of cultured cells and serum transaminase levels indicated melittin had little cytotoxicity.@*CONCLUSION@#Pre-incubation with melittin, but not insertion of melittin into the rAAV2 capsid, significantly enhanced rAAV2-mediated transgene expression. Although further in vivo evaluations are required, this research not only expands the pharmacological potential of melittin, but also provides a new strategy to improve gene therapy mediated by rAAV vectors.


Subject(s)
Mice , Animals , Humans , Melitten/genetics , Dependovirus/genetics , Serogroup , HEK293 Cells , Mice, Nude , Mice, Inbred C57BL , Transgenes , Genetic Vectors/genetics
5.
Chinese Journal of Orthopaedics ; (12): 1068-1075, 2023.
Article in Chinese | WPRIM | ID: wpr-993541

ABSTRACT

Objective:To investigate the clinical outcome and complications associated with utilizing sagittal plane stable vertebra-1 (SSV-1) as the distal instrumented vertebra (LIV) in posterior fusion of thoracic kyphosis with Scheuermann's Disease kyphosis (STK).Methods:A longitudinal study on patients with STK who underwent posterior correction and fusion surgery from January 2018 to June 2021 were conducted. All participants had a follow-up duration over two years. Patients were divided into two groups according to the segment of LIV: the SSV group, where LIV was located in SSV; and the SSV-1 group, where LIV was located in the vertebral body above SSV. The radiographic parameters, including global kyphosis (GK), lumbar lordosis (LL), and sagittal plane (SVA), LIV offset distance (LIV translation), pelvic incidence (PI), pelvic tilt (PT) and sacral slope (SS), were compared between the two groups. The SRS-22 scale was used to evaluate health-related quality of life at pre-operation and last follow-up, and the incidence of postoperative distal junctional kyphosis (DJK) was also recorded. Analytical techniques, such as Analysis of Variance and Mann-Whitney tests, were employed to compare inter-group differences.Results:A total of 57 patients were included in the study, 36 in the SSV group and 21 in the SSV-1 group. The average age for patients were 16.1±2.3 years (range 13-20 years), and the average follow-up time was 32.8±6.8 months (range 24-53 months). There were no statistically significant differences between the two groups in terms of gender, age, follow-up time, surgical time, intraoperative bleeding volume, and fusion level. Before surgery, the LIV deviation distance in the SSV group was significantly lower than that in the SSV-1 group (-7.9±11.0 mm vs. 31.5±11.5 mm, t=7.64, P<0.001). In the SSV group, the preoperative GK was 79.3°±10.5°, and the last follow-up GK was 44.4°±8.5°, which was significantly improved compared to preoperative value ( t=28.28, P<0.001); in the SSV-1 group, the preoperative GK was 81.1°±10.6°, and the value at 1-week post-operative was 44.9°±7.8°, which was significantly improved compared to pre-operative value ( t=22.23, P<0.001). At the last follow-up, it was 45.1°±8.7°, with a correction rate of 44.3%±8.5%. No significant difference was observed between the two groups in terms of GK, LL, SVA, PI, PT and SS at pre-operative, 1-week post-operative and last follow-up ( P>0.05). All patients had no intraoperative complications of nerve injury. During the follow-up period, one patient (1/21, 4.8%) developed DJK without complications such as proximal kyphosis, pseudarthrosis, or failed internal fixation. At the last follow-up, the functional score of SRS-22 in SSV-1 group improved from preoperative (3.5±0.54) to postoperative (4.1±0.62), with an average improvement rate of 19.2%±3.2%, and the difference was statistically significant ( t=3.74, P=0.001). These results indicating that the surgical treatment was effective in relieving the symptoms of the patients. Conclusion:Selecting SSV-1 as LIV in corrective surgeries for STK appears to produce commendable clinical results with minimal implant-associated complications over a two-year observation period.

6.
Chinese Journal of Orthopaedics ; (12): 720-729, 2023.
Article in Chinese | WPRIM | ID: wpr-993496

ABSTRACT

Objective:To evaluate the clinical outcomes and complications of second sacral alar-iliac (S 2AI) technique utilized in degenerative spinal deformity patients, and to analyze the potential risk factors for postoperative sagittal imbalance. Methods:From January 2014 to October 2020, a consecutive cohort of 39 degenerative spinal deformity patients who were treated with S 2AI were retrospectively reviewed, including 4 males and 35 females, aged 63.1±6.7 years (range, 43-73 years). All of the patients had a minimum of 2-year follow-up. According to the sagittal vertical axis (SVA) at the final follow-up, patients were divided into 2 groups. Sagittal balance group (SVA≤50 mm) and sagittal imbalance group (SVA>50 mm). Radiographic parameters including the Cobb's angle, coronal balance distance (CBD), thoracic kyphosis (TK), lumbar lordosis (LL), SVA, pelvic incidence (PI), pelvic tilt (PT) and sacral slope (SS) were measured in the standing radiographs before and after operation and at the latest follow up. Comparison was made between the two groups and the differences with statistical significance were analyzed with binary logistic regression analysis. Intraoperative and postoperative complications were recorded. The Scoliosis Research Society-22 (SRS-22) score were employed to evaluate the quality of life. Results:The average follow-up period was 30.3±9.1 months (range, 43-73 months). Eighteen patients (46%) were identified with sagittal imbalance at the last follow-up. Compared with the patients in the sagittal balance group, the preoperative SVA was significantly larger (83.1±56.2 mm vs. 48.1±51.1 mm, t=2.04, P=0.049) and the postoperative TK was significantly greater (27.8°±9.6° vs. 18.9°±13.4°, t=2.36, P=0.024) for patients in the sagittal imbalance group. Scores of pain domain (3.2±0.5 vs. 3.7±0.6) and self-image domain (3.4±0.8 vs. 3.8±0.6) in sagittal imbalance group were significantly lower than those of sagittal balance group ( P<0.05). Logistic regression analysis showed that larger preoperative SVA ( OR=1.02, P=0.028) and greater postoperative TK ( OR=1.09, P=0.022) were independent risk factors for the occurrence of sagittal imbalance during the follow-up periods. Conclusion:S 2AI screw fixation can achieve satisfying coronal deformity correction and great sagittal reconstruction after surgery in patients with degenerative spinal deformity. However, sagittal imbalance may still occur during the follow-up periods. Larger preoperative SVA and greater postoperative TK are independent risk factors for the occurrence of sagittal imbalance.

7.
Chinese Journal of Orthopaedics ; (12): 373-380, 2023.
Article in Chinese | WPRIM | ID: wpr-993452

ABSTRACT

Objective:To evaluate the prevalence and distribution of ossification of ligamentum flavum (OLF) at the segments adjacent to the apex in patients with degenerative kyphosis.Methods:All of 74 patients with degenerative kyphosis from January 2018 to December 2021 were retrospective reviewed. All patients were taken anteroposterior and lateral radiographs, CT scan and magnetic resonance imaging (MRI) of the entire spine. Global kyphosis, the morphology of kyphosis and the occurrence of OLF at three segments adjacent to the kyphosis apex were recorded.Results:Of the 74 patients, 54 patients (73%) developed OLF in three segments adjacent to the kyphotic apex. The mean age of the 54 patients was 61.4±6.8 years, and the mean global kyphosis was 49.5°±21.2°. Among other 20 patients without OLF, the mean age was 56.1±7.5 years, and the mean kyphosis angle was 52.1°±19.1°. There was a statistically significant difference in ages ( t=2.92, P=0.005), but no statistically significant difference was observed regarding global kyphosis ( t=0.48, P=0.634). In these 74 patients, 9 patients had angular kyphosis, of which 8 (89%) developed OLF; of the 65 patients without angular kyphosis, 46 patients (71%) developed OLF. There was no significant difference between them (χ 2=1.32, P=0.251). Among the 54 patients diagnosed with OLF, 5 patients (9%) suffered ossification of the posterior longitudinal ligament (OPLL) and 20 patients (37%) suffered dural ossification; 43 patients (80%) developed OLF at proximal segments of apex, 6 patient (11%) developed OLF at distal segments of apex, and 5 patients (9%) developed OLF both at proximal and distal segments of apex. Thirty-two patients (59%) developed OLF at the first segment adjacent to the kyphotic apex, 27 patients (50%) developed OLF at the second segment, and 15 patients (28%) developed OLF at the third segment. Conclusion:Among patients with degenerative kyphosis, about 73% may development OLF within three segments adjacent to the kyphotic apex, and it mostly occurred within two segments adjacent to the apex proximally.

8.
China Tropical Medicine ; (12): 637-2023.
Article in Chinese | WPRIM | ID: wpr-979779

ABSTRACT

@#Abstract: Objective To investigate the clinical outcomes and influencing factors of mild therapeutic hypothermia for influenza-associated encephalopathy/encephalitis (IAE) in children with different center temperatures, and to provide ideas and references for new mild therapeutic hypothermia scheme. Methods A total of 115 hospitalized children with IAE who were scheduled to receive mild therapeutic hypothermia in Zhongshan Hospital Affiliated to Xiamen University from January 2019 to February 2022 were collected as subjects. They were randomly divided into two groups, namely, the 33 ℃ group (n=60) and the 35 ℃ group (n=55). The clinical features and clinical outcomes of the two groups were analyzed. Univariate and multivariate logistic regression analysis was performed for 6-month to investigate the factors affecting neurological disability. Results The baseline indicators after treatment, such as Glasgow Coma Scale (GCS) score, cerebrospinal fluid total protein (CSF-TP), CSF lactate dehydrogenase (CSF-LDH), lymphocyte (Lym), creatine kinase-MB (CK-MB), LDH, and neuron-specific enolase (NSE), revealed no significant differences between the two groups before treatment or after treatment (P>0.05). There was no significant difference between the two groups after treatment in the clinical outcomes including GCS score D-value, time of hospitalization, 6-month neurological disability rate and mRS score, CSF-TP D-value, CSF-LDH D-value, Lym D-value, CK-MB D-value, LDH D-value, NSE D-value, improvement rate of EEG and MRI (P>0.05). Univariate and multivariate logistic regression analyses [OR=1.185, 95%CI (1.026~1.369), P=0.021] indicated that the delay of the onset of mild therapeutic hypothermia treatment was an independent risk factor for neurological disability in children with IAE after mild therapeutic hypothermia treatment of 6 months. Conclusion There was no significant difference in the clinical outcomes between 33 ℃ and 35 ℃ mild therapeutic hypothermia for children with IAE. Therefore, mild therapeutic hypothermia for children with IAE may not require a strict requirement. Timely receipt of mild therapeutic hypothermia is a key measrue to reduce the risk of neurological disability in children with IAE.

9.
An. bras. dermatol ; 97(5): 612-623, Sept.-Oct. 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1403160

ABSTRACT

Abstract Background: The close relationship between psoriasis and concomitant diseases is widely accepted. However, a comprehensive analysis of organ-based comorbidities in psoriasis is still lacking. Objective: The authors aimed to present the risk of organ-based comorbidities in psoriasis by comparing the general population. Methods: The authors retrieved a search of Pubmed, EMBASE, and Cochrane databases for studies reporting organ-based comorbidities in psoriasis versus the general population. Observational studies that met the following criteria were assessed: 1) Psoriasis diagnosis; 2) Cardiovascular or kidney or liver or respiratory or cerebrovascular outcomes; 3) Comparison group of individuals without psoriasis. Pooled Relative Risks (pRRs) and 95% Confidence Intervals (CIs) were calculated by using the random-effect model. Results: Fifteen observational studies with 216,348 psoriatic patients and 9,896,962 individuals from the general population were included. Psoriasis showed a greater risk of organ-based comorbidities. Compared to the general population, pRR for all organ-based comorbidities was 1.20 (95% CI 1.11-1.31) in psoriasis, and pRR was lower in mild 0.61 (95% CI 0.46-0.81) than in moderate/severe patients. pRR was 1.20 (95% CI 1.11-1.30) for cardiovascular, 1.56 (95% CI 1.20-2.04), and 1.75 (95% CI 1.33-2.29) for cerebrovascular and liver diseases, respectively. pRR for coexisting renal and cardiovascular events was 1.09 (95% CI 1.01-1.18). pRR for coexisting renal and cerebrovascular events was 1.28 (95% CI 0.99-1.66). pRR for coexisting renal and liver diseases was 1.46 (95% CI 1.10-1.94). pRR for coexisting cardiovascular and liver diseases was 1.41 (95% CI 1.11-1.80). Study limitations: There is heterogeneity. Conclusion: Psoriasis has a higher risk of single and multiple organ-based comorbidities than the general population. The present study will further improve attention to psoriasis as a systemic inflammatory disease.

10.
Rev. invest. clín ; 74(5): 276-283, Sep.-Oct. 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1409591

ABSTRACT

ABSTRACT Background: While sarcopenia is an important clinical finding in individuals diagnosed with chronic heart failure (CHF), efforts to identify a reliable biomarker capable of predicting the overall muscular and functional decline in CHF patients have been unsuccessful to date. Objectives: The objectives of this study were to study the diagnostic utility of MicroRNA (miRNA)-1-3p as a predictor of sarcopenia status in individuals diagnosed with CHF. Methods: In total, 80 individuals with heart failure exhibiting a left ventricular ejection fraction < 50% were enrolled in this study. All patients were analyzed to assess miR-1-3p expression levels, with body composition being evaluated through dual-energy X-ray absorptiometry and sarcopenia being defined based on the sum of appendicular lean muscle mass (ALM) divided by height in meters squared and handgrip strength (HGS). In addition, the activation of the Akt/mTOR signaling pathway was evaluated in these individuals. Results: In total, 40 of the enrolled patients (50%) exhibited sarcopenia. Sarcopenic patients presented with increased miR-1-3p expression levels as compared to non-sarcopenic individuals (1.69 ± 0.132 vs. 1.22 ± 0.106; p < 0.05). With respect to sarcopenic indices, appendicular skeletal mass index was most strongly correlated with miR-1-3p expression, which was also strongly correlated with HGS. High levels of Akt/mTOR signaling pathway components were expressed in sarcopenic individuals, highlighting a significant relationship between miR-1-3p activity and signaling through this pathway. Moreover, miR-1-3p was identified as a specific marker for sarcopenia in individuals with CHF. Conclusion: These results suggest that circulating miR-1-3p levels are related to Akt/mTOR pathway activation and can offer valuable insight into the overall physical capacity and muscular integrity of CHF patients as a predictor of sarcopenia.

11.
Chinese Journal of School Health ; (12): 898-900, 2022.
Article in Chinese | WPRIM | ID: wpr-934834

ABSTRACT

Objective@#To explore the prevention and control effects of different management modes on children with high risk of dental caries from some kindergartens in Zhangjiagang, and to provide a basis for relevant departments to formulate oral health management strategy.@*Methods@#In September 2020, 1 600 children aged 3 years old from 9 towns in Zhangjiagang were sampled by cluster sampling method for baseline survey, including oral examination, questionnaire survey and caries susceptibility test. According to the risk assessment criteria, high risk children were screened out and divided into two groups. In the experimental group, the frequency of fluoride application was once every 3 months, combined with behavioral management and oral health guidance. In the control group, fluoride application was conducted once every 6 months, combined with behavioral management and oral health guidance. The effect of caries prevention was evaluated one year later.@*Results@#The prevalence of caries in three year old children was 50.9% at baseline, and the prevalence of caries in boys and girls was 47.5% and 54.5%, respectively, with statistical significance ( χ 2=9.64, P <0.05). A total of 1 090 high risk children were screened out, including 475 in experimental group and 615 in control group. The prevalence of caries in the two groups at baseline was 74.1% and 75.1%, respectively, and dmft were (2.98±3.33) and (3.04±3.16), respectively, with no significant difference ( χ 2/t =0.15, 0.28, P >0.05). One year after intervention, the prevalence of caries in the two groups was 78.5% and 83.0%, respectively and dmft were (4.22±3.97) and (4.51±4.08), respectively, with no statistical significance ( χ 2/t=3.17, 0.05, P >0.05). The incidence of new caries in the experimental group was 3.7%, and the incidence of new caries was (1.26±1.69), lower than 7.6% and (1.45±2.04) in the control group, with statistical significance ( χ 2/t=6.89, 5.05, P <0.05).@*Conclusion@#The frequency of fluorination intervention once every 3 months combined with behavior management mode was more effective in controlling new caries in children with high risk of caries.

12.
Chinese Journal of Orthopaedics ; (12): 715-721, 2022.
Article in Chinese | WPRIM | ID: wpr-932884

ABSTRACT

Objective:To investigate the correlations between cosmetic and radiographic parameters in patients with congenital scoliosis (CS) with vertebral segmentation failureand the clinical implication of cosmetic parameters.Methods:A total of 27 CS patients were retrospectively reviewed. Anteroposterior and lateral radiographs of the entire spine was taken. Simultaneously, photos were taken from the back in natural standing position and standing forward bending position. Seven cosmetic parameters were measured on the photographs: shoulder area index 1 (SAI1), shoulder area index 2 (SAI2), lumbar area index (LAI), shoulder angle (α 1), axilla angle (α 2), right and left waist angle difference (RLWAD) and hump index. Also, seven radiographic parameterswere measured on the radiographs: radiographic shoulder height difference (RSHD), T 1 tilt, first rib angle (FRA), clavicle angle (CA), clavicle-rib cage intersection (CRCI), clavicle chest cage angle difference (CCAD) and Cobb's angle. The correlation between cosmetic parameters and radiographic parameters was analyzed by Pearson correlation coefficient. Results:Of the 27 patients, 4 were males and 23 were females, with a mean of age 14.0±2.6 years (range 11-18 years). The apical vertebra ranged from T 5 to T 11. LAI was significantly correlatedwith CCAD, but correlation coefficient was only -0.44. The range of correlation coefficientsbetween SAI1 and all radiographic parameters was -0.17 to 0.53, and the range of correlation coefficients between SAI2 and all radiographic parameters was -0.16 to 0.53. However, all correlation coefficients were less than 0.56. Conclusion:Radiographic parameters cannot reflect cosmetic appearances of CS patients with vertebral segmentation failures accurately. More attention should be paid to cosmetic parameters in the evaluation of patients' appearances.

13.
Chinese Journal of School Health ; (12): 1179-1184, 2022.
Article in Chinese | WPRIM | ID: wpr-940103

ABSTRACT

Objective@#To understand the current situation and associated factors of cellphone usage and addiction among Chinese children and adolescents, to provide reference for effective prevention and intervention of cellphone addiction.@*Methods@#Using a stratified random sampling approach, 11 213 children and adolescents and their parents from 31 provinces, municipalities and autonomous regions in China were recruited and surveyed.@*Results@#The median of daily mobile phone use time among Chinese children and adolescents were 120.00 minutes, as reported by either children or parents. Child s age( β =0.12), hedonic( β =0.11) and social( β =0.09) cellphone use motivations positively related to time spent on cellphone( P <0.01). Cellphone related parental communication( β =-0.06) and knowledge( β =-0.03), as well as cellphone usage on instrumental( β =-0.04) or self representation( β =-0.16) motivation negatively related to time spent on cellphone( P <0.05). Child s age( β =-0.04), cellphone related parental communication( β =-0.09) and awareness( β =-0.14), cellphone use on instrumental motivation( β =-0.22) were negatively associated with cellphone addiction among children and adolescents( P <0.05). Cellphone related parental monitoring( β =0.07), as well as cellphone usage on self representation motivation( β =0.03) or hedonic motivation( β =0.29) positively related to cellphone addiction in children and adolescents( P <0.05).@*Conclusion@#Time spent on mobile phone and mobile phone addiction of Chinese children and adolescents are influenced by various internal and external factors, such as the mobile phone use motivation and parenting style.Future school education should help children develop scientific motivation for mobile phone use. Family education should help parents develop positive parenting behaviors such as communication and awareness, so as to reduce the possibility of improper mobile phone use.

14.
Chinese Journal of Orthopaedics ; (12): 1122-1129, 2022.
Article in Chinese | WPRIM | ID: wpr-957105

ABSTRACT

Objective:To investigate the feasibility and effects of modified sequential correction technique combined 3-columns osteotomy for severe kyphoscoliosis.Methods:A retrospective analysis was performed on 18 patients (7 males and 11 females) with severe kyphosis who received modified sequential correction technique combined 3-columns osteotomy in our hospital from June 2019 to April 2020. Preoperative, postoperative and final follow-up clinical and imaging outcomes were evaluated.Results:In this cohort, the average fixed segment was 11.2±3.8. The average operative duration was 401.9±68.9 min and the average intraoperative blood loss was 2 418.8±736.9 ml. The Cobb angle was improved significantly from 65.0°±16.4° pre-operatively to 41.6°±14.1° post-operatively. At final follow-up, it was 41.4°±14.3°, which was not significantly different from that after operation. Global kyphosis (GK) was 65.5°±20.8° pre-operatively and 28.1°±13.8° post-operatively with correction rate of 57.8%±17.8%. However, GK was 29.3°±14 .2° at postoperative 1 year , which was not significantly different from that after operation. There was no significant difference in C 7PL-CSVL ( F=0.449 , P=0.642) or SVA ( F=3.519, P=0.058) among the three time points. There was no alter of SEP and MEP observed during operation. Four patients had temporary lower limb numbness after operation, while the symptoms disappeared at 6 months after operation. There was no instrumental failure during the follow-up. Conclusion:Patients with severe kyphoscoliosis can obtain satisfied local correction by undergoing modified sequential correction technique combined 3-columns osteotomy without significant loss of correction at 1 year after operation. It can effectively avoid instability and dislocation of the osteotomy site and massive bleeding during the operation. As a simplified surgical procedure, it can reduce the difficulty of rod loading without prolonged operation duration. Further, this technique can ensure lower incidence of neurological complications and rod failure.

15.
Chinese Journal of Ultrasonography ; (12): 717-723, 2022.
Article in Chinese | WPRIM | ID: wpr-956647

ABSTRACT

Objective:To explore the relationship between soft markers found in the first trimester (11-13 + 6 gestational weeks) ultrasound screening and fetal adverse pregnancy outcomes. Methods:Single pregnancy fetuses were selected from the Multicenter Clinical Study of First Trimester Screening in China during August 2017 to August 2020. The types and detection rate of soft markers during the first trimester were compared. The correlation between positive soft markers and adverse pregnancy outcomes was analyzed by binary Logistics regression.Results:A total of 16 625 fetuses with complete follow-up outcomes were included in the group. Six hundred and seven ultrasonic soft markers were detected in 556 fetuses with positive soft markers during the first trimester, and the first four most frequently occurred were increased nuchal translucency (NT) (2.08%, 345/16 625), echogenic intracardiac focus (EIF) (0.94%, 156/16 625), hypoplasia of fetal nasal bone (0.20%, 34/16 625), single umbilical artery (SUA) (0.19%, 31/16 625). Among 556 fetuses, the incidence of adverse pregnancy outcome in fetuses with two or more positive soft markers was 32.50% (13/40), which was significantly higher than fetuses with single positive soft marker (11.05%, 57/516), and the difference was statistically significant (χ 2=5.055, P<0.001). The incidence of adverse pregnancy outcome in positive soft markers fetus associated with structural abnormalities was 80.77% (21/26), which was significantly higher than fetuses with isolated positive soft marker (12.08%, 64/530), and the difference was statistically significant (χ 2=90.310, P<0.001). Binary logistic regression analysis showed choroid plexus cyst (CPC), SUA, echogenic bowel (EB), absent/reversed a-wave of ductus venosus, hypoplasia of fetal nasal bone, increased NT, and EIF were closely related to the adverse pregnancy outcomes (all P<0.05). However, there were no significant correlations between tricuspid regurgitation (TR), pyelectasis (PYE) and fetal adverse pregnancy outcomes (all P>0.05). Conclusions:The ultrasonic soft markers during the first trimester are of great significance in predicting fetal adverse pregnancy outcomes. For multiple positive soft markers or positive soft markers combined with structural abnormalities, more attention should be paid to them and comprehensive evaluation is required to be carried out.

16.
JOURNAL OF RARE DISEASES ; (4): 325-328, 2022.
Article in English | WPRIM | ID: wpr-1005022

ABSTRACT

This article reports a case of a child with full-length (paired box family, PAX) PAX2 mutation leading to renal coloboma syndrome. The patient is an 11-year-old boy presented with persistent foamy urine and unexplained renal failure. The boy has suffered from vision decline ever since infancy. Genetic testing confirms the mutation of the PAX2 splice site (c.862-1G > A). Sanger sequencing shows no mutation at this site in his parents and demonstrates a spontaneous mutation. His clinical manifestations also confirms diagnosis of renal coloboma syndrome. The PAX2 mutation was responsible for the boy's progression to end-stage renal disease and extrarenal manifestations.

17.
JOURNAL OF RARE DISEASES ; (4): 259-267, 2022.
Article in English | WPRIM | ID: wpr-1005013

ABSTRACT

  Objective  To explore the phenotype-genotype correlation of Alport syndrome in children.  Methods  Retrospectively analyze the clinical and pathological features of 55 patients with Alport syndrome with COL4A mutations detected by second-generation sequencing, who were treated at Beijing Children's Hospital from January 2016 to December 2020.  Results  A total of 55 children with Alport syndrome were included. All cases had hematuria, including 31 cases (56.4%) with gross hematuria and 24 cases (43.6%) with microscopic hematuria. A total of 39 (70.9%) patients also had proteinuria. Extrarenal manifestations were pres- ent in 12 patients (21.8%). 36(65.4%) patients had a family history of Alport syndrome. 32 patients underwent pathological examination and 23 of them had the specific pathological changes of Alport syndrome. In 55 cases, 36 (65.4%) were diagnosed as X-linked Alport syndrome, 5(9.1%) were diagnosed as autosomal recessive Alport syndrome, 10(18.2%) were diagnosed as autosomal dominate Alport syndrome, and 4(7.3%) were diagnosed as digenic Alport syndrome. Missense mutations in COL4A genes accounted for 62.5%, 67.5% of missense mutations resulted in glycine substitution. There were statistical significances in proteinuria degree and hearing loss between male and female patients with XLAS (P < 0.05) as well as statistical significance in the degree of proteinuria between autosomal recessive Alport syndrome and autosomal dominate Alport syndrome (P=0.044), and there was critical statistical significance in the age of onset. There was statistical significance in hearing loss between children with renal impairment and children with normal renal function (P=0.001).  Conclusions  Most of the pathogenic variants in COL4A genes that cause Alport syndrome result in glycine substitutions. The degree of proteinuria and hearing loss of males with XLAS were greater than those of females. The degree of proteinuria in autosomal recessive Alport syndrome was greater than that of children with autosomal dominate Alport syndrome, and the age of onset was earlier than that of autosomal dominate Alport syndrome. Renal manifestation was more severe in children with hearing loss. The early clinical manifestations of Alport syndrome are diverse and pathological manifestations may be atypical. The application of next-generation sequencing can reduce misdiagnosises of Alport syndrome.

18.
Journal of Integrative Medicine ; (12): 515-525, 2021.
Article in English | WPRIM | ID: wpr-922523

ABSTRACT

OBJECTIVE@#Plant-derived cytotoxic transgene expression, such as trichosanthin (tcs), regulated by recombinant adeno-associated virus (rAAV) vector is a promising cancer gene therapy. However, the cytotoxic transgene can hamper the vector production in the rAAV producer cell line, human embryonic kidney (HEK293) cells. Here, we explored microRNA-122 (miR122) and its target sequence to limit the expression of the cytotoxic gene in the rAAV producer cells.@*METHODS@#A miR122 target (122T) sequence was incorporated into the 3' untranslated region of the tcs cDNA sequence. The firefly luciferase (fluc) transgene was used as an appropriate control. Cell line HEK293-mir122 was generated by the lentiviral vector-mediated genome integration of the mir122 gene in parental HEK293 cells. The effects of miR122 overexpression on cell growth, transgene expression, and rAAV production were determined.@*RESULTS@#The presence of 122T sequence significantly reduced transgene expression in the miR122-enriched Huh7 cell line (in vitro), fresh human hepatocytes (ex vivo), and mouse liver (in vivo). Also, the normal liver physiology was unaffected by delivery of 122T sequence by rAAV vectors. Compared with the parental cells, the miR122-overexpressing HEK293-mir122 cell line showed similar cell growth rate and expression of transgene without 122T, as well as the ability to produce liver-targeting rAAV vectors. Fascinatingly, the yield of rAAV vectors carrying the tcs-122T gene was increased by 77.7-fold in HEK293-mir122 cells. Moreover, the tcs-122T-containing rAAV vectors significantly reduced the proliferation of hepatocellular carcinoma cells without affecting the normal liver cells.@*CONCLUSION@#HEK293-mir122 cells along with the 122T sequence provide a potential tool to attenuate the cytotoxic transgene expression, such as tcs, during rAAV vector production.


Subject(s)
Animals , Humans , Mice , Dependovirus/genetics , Genetic Therapy , Genetic Vectors/genetics , HEK293 Cells , MicroRNAs/genetics , Trichosanthin
19.
Chinese Journal of Orthopaedics ; (12): 1785-1794, 2021.
Article in Chinese | WPRIM | ID: wpr-910773

ABSTRACT

Objectives:To investigate the feasibility of second sacral alar-iliac (S 2AI) screw placement and trajectories index in patients with neuromuscular scoliosis with severe pelvic obliquity; and to explore the accuracy of S 2AI screw placement by O-arm three-dimensional (3D) CT navigation (Medtronic, Minneapolis, MN, USA). Methods:All of 28 patients with neuromuscular scoliosis who underwent posterior long fusion with S 2AI between January 2017 and August 2020 were reviewed, with an average age of 22.2 years old (ranged from 10 to 51 years), and the pelvic obliquity angle was 27.54±9.90° (ranged from 16.2° to 53.6°). Based on 3D CT reconstruction of these specimens, virtual S 2AI screw channels were identified and measured. Entry point was determined by 1 mm inferior and 1 mm lateral to the S 1 dorsal foramen, and virtual S 2AI screw trajectories with maximum length and width were explored by rotating 3D pelvis. The parameters of the determined channels were measured including caudal angulation on the sagittal plane (sagittal angle, SA), lateral angulation on the transverse plane (transverse angle, TA) and the maximal length of the channel (maximal length, ML). The accuracy of screw placement was evaluated by postoperative pelvic CT scan. Results:All of the virtual S 2AI screw trajectories can be reconstructed. The screw trajectory parameters were shown as follows: SA was 30.20°±21.94° and 50.94°±16.02° on the high and low sides of pelvis, respectively, and the difference was statistically significant ( t=3.990 , P<0.001). SA was 30.14°±21.93° on the anterior side of the pelvis and 51.00°±15.96° on the posterior side, respectively, with statistical significance ( t=4.027, P<0.001). TA was 43.67°±12.86° on the high side of pelvic tilt and 31.95°±13.80° on the low side, with statistical significance ( t=2.834, P=0.009). TA was 42.56°±12.52° on the anterior side of the pelvis and 33.05°±14.94° on the posterior side, respectively, and the differences were statistically significant ( t=2.192, P=0.037). ML was 97.12±12.44 mm and 92.28±11.04 mm on the high and low side of pelvis, and there was no significant difference ( t=0.963 , P=0.060). ML was 97.72±12.41 mm on the anterior sides of the pelvis and 91.68±10.57 mm on the posterior side, and the difference was statistically significant ( t=2.556 , P=0.017). SA tended to be smaller on the high side of pelvic tilt ( r=0.474, P<0.01) and TA tended to be higher on the anterior side of pelvis ( r=-0.419, P<0.01) . Only 2 screws (3.6%) showed screw breaches after surgery, with no clinically notable neurovascular or visceral complications. Conclusion:In patients of neuromuscular scoliosis with severe pelvic obliquity, the virtual S 2AI screw trajectory can be found in 3D CT reconstruction of the pelvis. But the parameters are very discrete at SA and TA. In these patients, the O-arm 3D CT navigation can be used to make sure the direction and length of the S 2AI screw, greatly improving the accuracy of screw placement and effectively descending the ratio of poor screw.

20.
Chinese Journal of Orthopaedics ; (12): 834-843, 2021.
Article in Chinese | WPRIM | ID: wpr-910665

ABSTRACT

Objective:To investigate the clinical outcomes and complication of posterior surgery for Scheuermann kyphosis fusing to different distal fusion levels.Methods:From January 2012 to December 2017, a consecutive cohort of 34 patients who were treated with posterior spinal instrumented correction and satisfied the inclusion criteria were retrospectively reviewed, including 29 males and 5 females, aged 17.1±4.3 years (range, 12-30 years). All of the patients had a minimum follow-up of 2 years. According to the distal fusion level, patients were divided into 2 groups. Group sagittal stable vertebra (SSV) (22 cases) included patients whose lowest instrumented vertebra (LIV) was SSV; Group SSV-1 (12 cases) included patients who had a LIV one level above the SSV. Radiographic parameters including global kyphosis (GK), lumbar lordosis (LL), sagittal vertical axis (SVA), pelvic incidence (PI), pelvic tilt (PT), and sacral slope (SS) were measured in the standing radiographs before and after operation and at the latest follow up. Intraoperative and postoperative complications were recorded. The Scoliosis Research Society-22 questionnaire (SRS-22) were conducted at pre-operation and the final follow up to evaluate the clinical outcomes. The sagittal radiographic parameters and the incidence of distal junctional kyphosis (DJK) were compared between the two groups.Results:There were no significant differences in terms of age, sex, radiographic measurements and scores of SRS-22 between two groups preoperatively ( P>0.05). The correction rates of GK in the SSV group and the SSV-1 group were 42.8%±7.6% and 43.2%±8.4% ( t=0.151, P=0.881) respectively. While the correction rates loss were 1.2%±5.2% and 3.9%±7.2% ( t=0.767, P=0.449) at the latest follow up. No significant difference was observed in terms of other radiographic parameters ( P>0.05). During the postoperative follow up period, 3 patients (16.7%) in SSV group and 2 patients (13.6%) in SSV-1 group developed DJK. The incidence of DJK did not show any significant difference between two groups ( χ2=0.057, P=0.812). At the final follow-up, the function scores of SRS-22 in SSV-1 group (4.1±0.6) was significantly higher than SSV group (3.7±0.5) ( t=2.300, P=0.028) and there was no significant difference in the rest of the domain ( P>0.05). Conclusion:Compared with stopping at SSV, fusion to SSV-1 could achieve comparable curve correction with the preservation of more lumbar motility. Moreover, it would not increase the risk of DJK. As a result, we recommend selecting SSV-1 as the ideal LIV for SK patients.

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