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OBJECTIVES: To develop an objective method based on texture analysis on MRI for diagnosis of congenital muscular torticollis (CMT). MATERIAL AND METHODS: The T1- and T2-weighted imaging, Q-dixon, and T1-mapping MRI data of 38 children with CMT were retrospectively analyzed. The region of interest (ROI) was manually drawn at the level of the largest cross-sectional area of the SCM on the affected side. MaZda software was used to obtain the texture features of the T2WI sequences of the ROI in healthy and affected SCM. A radiomics diagnostic model based on muscle texture features was constructed using logistic regression analysis. Fatty infiltration grade was calculated by hematoxylin and eosin staining, and fibrosis ratio by Masson staining. Correlation between the MRI parameters and pathological indicators was analyzed. RESULTS: There was positive correlation between fatty infiltration grade and mean value, standard deviation, and maximum value of the Q-dixon sequence of the affected SCM (correlation coefficients, 0.65, 0.59, and 0.58, respectively, P < 0.05).Three muscle texture features-S(2,2)SumAverg, S(3,3)SumVarnc, and T2WI extreme difference-were selected to construct the diagnostic model. The model showed significant diagnostic value for CMT (P < 0.05). The area under the curve of the multivariate conditional logistic regression model was 0.828 (95% confidence interval 0.735-0.922); the sensitivity was 0.684 and the specificity 0.868. CONCLUSION: The radiomics diagnostic model constructed using T2WI muscle texture features and MRI signal values appears to have good diagnostic efficiency. Q-dixon sequence can reflect the fatty infiltration grade of CMT.
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Imageamento por Ressonância Magnética , Índice de Gravidade de Doença , Torcicolo , Humanos , Torcicolo/diagnóstico por imagem , Torcicolo/congênito , Imageamento por Ressonância Magnética/métodos , Masculino , Feminino , Estudos Retrospectivos , Pré-Escolar , Criança , Lactente , Músculos do Pescoço/diagnóstico por imagem , Músculos do Pescoço/patologia , AdolescenteRESUMO
Endothelial dysfunction caused by the stimulation of endothelial microparticles (EMPs) by the inflammatory factor IL-6 is one of the pathogenic pathways associated with Perthes disease. The natural active product biochanin A (BCA) has an anti-inflammatory effect; however, whether it can alleviate endothelial dysfunction in Perthes disease is not known. The present in vitro experiments on human umbilical vein endothelial cells showed that 0-100 pg/ml IL-6-EMPs could induce endothelial dysfunction in a concentration-dependent manner, and the results of the Cell Counting Kit 8 assay revealed that, at concentrations of <20 µM, BCA had no cytotoxic effect. Reverse transcription-quantitative PCR demonstrated that BCA reduced the expression levels of the endothelial dysfunction indexes E-selectin and intercellular cell adhesion molecule-1 (ICAM-1) in a concentration-dependent manner. Immunofluorescence and western blotting illustrated that BCA increased the expression levels of zonula occludens-1 and decreased those of ICAM-1. Mechanistic studies showed that BCA inhibited activation of the NFκB pathway. In vivo experiments demonstrated that IL-6 was significantly increased in the rat model of ischemic necrosis of the femoral head, whereas BCA inhibited IL-6 production. Therefore, in Perthes disease, BCA may inhibit the NFκB pathway to suppress IL-6-EMP-induced endothelial dysfunction, and could thus be regarded as a potential treatment for Perthes disease.
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Developmental dysplasia of the hip (DDH) is the most common hip deformity in pediatric orthopedics. One of the common pathological changes in DDH is the thickening and hypertrophy of the ligamentum teres. However, the underlying pathogenic mechanism responsible for these changes remains unclear. This study represents the first time that the heterogeneity of cell subsets in the abnormal ligamentum teres of patients with DDH has been resolved at the single-cell and spatial levels by snRNA-Seq and MiP-Seq. Through gene set enrichment and intercellular communication network analyses, we found that receptor-like cells and ligament stem cells may play an essential role in the pathological changes resulting in ligamentum teres thickening and hypertrophy. Eight ligand-receptor pairs related to the ECM-receptor pathway were observed to be closely associated with DDH. Further, using the Monocle R package, we predicted a differentiation trajectory of pericytes into two branches, leading to junctional ligament stem cells or fibroblasts. The expression of extracellular matrix-related genes along pseudotemporal trajectories was also investigated. Using MiP-Seq, we determined the expression distribution of marker genes specific to different cell types within the ligamentum teres, as well as differentially expressed DDH-associated genes at the spatial level.
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BACKGROUND: Legg-Calvé-Perthes disease is a special self-limited disease in pediatric orthopedics with a high disability rate and a long-term course, and there is still no clear and effective therapeutic drug in clinic. This study aimed to investigate the potential efficacy of biochanin A, a kind of oxygen-methylated isoflavone compound, in treating Perthes disease based on network pharmacology, molecular docking and in vitro experiments. METHODS: IL-6 was used to stimulate human umbilical vein endothelial cells to construct endothelial cell dysfunction model. We demonstrated whether biochanin A could alleviate endothelial dysfunction through CCK8 assay, immunofluorescence. Targets of biochanin A from pharmMappeer, SWISS, and TargetNet databases were screened. Targets of endothelial dysfunction were obtained from Genecards and OMIM databases. Protein-protein interaction, Gene Ontology, and Kyoto Encyclopedia of Genes and Genomics analyses were used to analyze the potential target and the key pathway of the anti-endothelial dysfunction activity of biochanin A. To validate the potential target-drug interactions, molecular docking and molecular dynamics simulations were performed and the result was proved by western blot. RESULTS: It was found that biochanin A can promote the expression of ZO-1, reduce the expression of ICAM-1, which means improving endothelial dysfunction. A total of 585 targets of biochanin A from pharmMappeer, SWISS, and TargetNet databases were screened. A total of 10,832 targets of endothelial dysfunction were obtained from Genecards and OMIM databases. A total of 527 overlapping targets of endothelial dysfunction and biochanin A were obtained. AKT1, TNF-α, VCAM1, ICAM1, and NOS3 might be the key targets of the anti-endothelial dysfunction activity of biochanin A, and the key pathways might be PI3K-Akt and TNF signaling pathways. Molecular docking results indicated that the AKT1 and TNF-α had the highest affinity binding with biochanin A. CONCLUSION: This study indicates that biochanin A can target AKT1 and TNF-α to alleviate endothelial dysfunction induced by IL-6 in Perthes disease, which provides a theoretical basis for the treatment of Perthes disease by using biochanin A.
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Doença de Legg-Calve-Perthes , Fator de Necrose Tumoral alfa , Criança , Humanos , Simulação de Acoplamento Molecular , Farmacologia em Rede , Células Endoteliais , Interleucina-6 , Fosfatidilinositol 3-QuinasesRESUMO
BACKGROUND: Congenital muscular torticollis (CMT) is a common musculoskeletal disease affecting infants and young children. If CMT is not treated correctly and timely, it can lead to limited head and neck movements, head and neck deviation, and abnormal posture. In order to improve patients' symptoms and alleviate the negative impact of the disease on their lives, we are committed to exploring the treatment of CMT. METHODS: The general clinical and ultrasonographic data of 2599 children with CMT who received standardized treatment at Shenzhen Children's Hospital from 2004 to 2020 were retrospectively reviewed. According to given treatment, children with CMT were divided into the physiotherapy group, physiotherapy combined with glucocorticoid treatment group, and surgical treatment group. We divided children with CMT into local mass, uniform thickening, and atrophy according to ultrasound features. General clinical information, treatment, and ultrasound examination data in each group were compared. Additionally, electronic medical records of 2344 patients admitted due to CMT in 17 tertiary children's hospitals of China's Futang Research Center of Pediatric Development (FRCPD) from 2015 to 2019 were retrospectively analyzed. Data on sex, age, year of admission and discharge, and treatment costs during hospitalization were extracted from the first medical record pages according to the ICD codes. The data were assessed for normality using the Kolmogorov-Smirnov test. Depending on the data distribution, they were analyzed using parametric tests, such as the t-test, or non-parametric tests. Qualitative data are expressed as percentages (%) and analyzed using the chi-square or Fisher's exact probability test, with α = 0.05 as the test level. P < 0.05 was considered to be indicative of a statistically significant difference. RESULTS: Three types of CMT were defined based on sternocleidomastoid muscle ultrasound examination characteristics: local mass, uniform thickening, and atrophy. Age at first diagnosis was 69.21 ± 108.41 days in local mass type group, 216.85 ± 324.09 days in uniform thickening group, and 417.88 ± 739.05 days in atrophy- type group; while age at first physiotherapy use was 94.06 ± 206.49 days, 255.00 ± 430.62 days, 540.92 ± 1059.29 respectively. The children included in local mass type group have shown a high success rate of conservative treatment, with a rate of 7.5% of children underwent surgery. Age at first diagnosis was 112.44 ± 224.12 days in the physiotherapy group, 115.87 ± 144.86 days in the physiotherapy combined with glucocorticoid treatment subgroup, whereas the age at first physiotherapy use was 137.38 ± 312.11 and 196.91 ± 344.26 days respectively. In the observation period (2015-2019) the mean age at surgery for CMT in 17 tertiary children's hospitals of the FRCPD was 50 months. Overall, 663 children with CMT were 1-2 years of age, accounting for the largest proportion (28.3%). Followed by 417 individuals (17.8%) were 7-14 years of age, indicating that there are still more children with CMT receiving surgical treatment later. CONCLUSIONS: Early diagnosis and treatment are essential to improve the conservative treatment success rate and achieve good prognosis in children with CMT. Our team's concept for treating CMT is as follows: after diagnosing the children, we will adopt the standardized protocol of treatment, with physiotherapy combined with the injection of glucocorticoid drugs and SCM release surgery, when needed. This program has a high conservative treatment success rate and may facilitate the achievement of better prognosis and reduced teratogenicity rate.
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Glucocorticoides , Torcicolo , Pré-Escolar , Humanos , Lactente , Atrofia , Hospitais , Estudos Retrospectivos , Torcicolo/diagnóstico por imagem , Torcicolo/epidemiologia , Torcicolo/terapia , Masculino , FemininoRESUMO
Objective: To summarize the regulatory effect of non-coding RNA (ncRNA) on type H vessels angiogenesis of bone. Methods: Recent domestic and foreign related literature about the regulation of ncRNA in type H vessels angiogenesis was widely reviewed and summarized. Results: Type H vessels is a special subtype of bone vessels with the ability to couple bone formation. At present, the research on ncRNA regulating type H vessels angiogenesis in bone diseases mainly focuses on microRNA, long ncRNA, and small interfering RNA, which can affect the expressions of hypoxia inducible factor 1α, platelet derived growth factor BB, slit guidance ligand 3, and other factors through their own unique ways of action, thus regulating type H vessels angiogenesis and participating in the occurrence and development of bone diseases. Conclusion: At present, the mechanism of ncRNA regulating bone type H vessels angiogenesis has been preliminarily explored. With the deepening of research, ncRNA is expected to be a new target for the diagnosis and treatment of vascular related bone diseases.
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Doenças Ósseas , MicroRNAs , RNA Longo não Codificante , Humanos , RNA não Traduzido/genética , Doenças Ósseas/genética , MicroRNAs/genética , RNA Interferente PequenoRESUMO
BACKGROUND: In this study, to provide a theoretical basis for understanding the clinical characteristics of epiphyseal fractures in children and improving their management, we explored and analyzed the proportions of different types of epiphyseal fractures in children and evaluated the causes of injury and epidemiological characteristics. METHODS: We retrospectively analyzed children younger than 18 years with fresh epiphyseal fractures who were admitted to our hospital from July 2015 to February 2020. Demographic information, injury mechanisms, fracture characteristics, fracture classification and surgical information were collected. RESULTS: A total of 1124 pediatric patients (1147 epiphyseal fractures), including 789 boys and 335 girls, were included in this study. Epiphyseal fractures were classified as Salter-Harris type II (1002 cases), type IV (105 cases), type III (25 cases), Salter-Harris type I (14 cases), and Salter-Harris type V (1 case). The number of fracture sites peaked in the adolescent group (440 cases). The most three common sites of epiphyseal fractures were the distal radius (460 cases) in which Salter-Harris type II fractures were the most common (454 cases) and Salter-Harris type I (3 cases), Salter-Harris type IV (2 cases), Salter-Harris type III was the least common (1 case). Followed by phalanges of fingers (233 cases) in which Salter-Harris type II fractures were the most common (224 cases) and Salter-Harris type IV (4 cases), Salter-Harris type I (3 cases), Salter-Harris type III fractures were the least common (2 cases). Distal humerus (146 cases) in which Salter-Harris type II fractures were the most common (95 cases), followed by Salter-Harris type IV (49 cases), Salter-Harris type I fractures were the least common (2 cases). The most three important causes of fractures were falls (720 patients), car accident injuries (68 patients), and basketball falls (43 patients). Among the 1124 children with epiphyseal fractures, 1058 were treated mainly by surgery and the ratio of open and closed reduction was 1:5.3. Eighty-eight patients showed an interval > 72 h between the injury and the hospital visit. Among these 88 patients, the most common fracture type was distal radial epiphyseal fracture (32 cases), and all fractures were of Salter-Harris type II. CONCLUSIONS: The epidemiological characteristics of epiphyseal fractures in children indicate the need to strengthen health and safety education and protective measures to prevent the occurrence of these fractures in children. In addition, emergency surgeons and orthopedic surgeons in general hospitals should strengthen their basic knowledge of diagnosing and treating epiphyseal injuries in children to reduce missed diagnoses, misdiagnoses or malpractice.
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Fraturas Ósseas , Fraturas Fechadas , Fraturas do Punho , Adolescente , Masculino , Feminino , Humanos , Criança , Estudos Retrospectivos , DedosRESUMO
Congenital Muscular Torticollis (CMT) is a neuromuscular disease in children, which leads to exacerbation of postural deformity and neck muscle dysfunction with age. Towards facilitating functional assessment of neuromuscular disease in children, topographic electromyography (EMG) maps enabled by flexible and stretchable surface EMG (sEMG) electrode arrays are used to evaluate the neck myoelectric activities in this study. Customed flexible and stretchable sEMG electrode arrays with 84 electrodes were utilized to record sEMG in all subjects during neck motion tasks. Clinical parameter assessments including the cervical range of motion (ROM), sonograms of the sternocleidomastoid (SCM), and corresponding histological analysis were also performed to evaluate the CMT. The muscle activation patterns of neck myoelectric activities between the CMT patients and the healthy subjects were asymmetric during different neck motion tasks. The CMT patients presented significantly lower values in spatial features of two-dimensional (2D) correlation coefficient, left/right energy ratio, and left/right energy difference (p < 0.001). The 2D correlation coefficient of activation patterns of neck rotation and extension in CMT patients significantly correlated with clinical parameter assessments (p < 0.05). The findings suggest that the spatial features of muscle activation patterns based on the sEMG electrode arrays can be utilized to evaluate the CMT. The flexible and stretchable sEMG electrode array is promising to facilitate the functional evaluation and treatment strategies for children with neuromuscular disease.
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Doenças Neuromusculares , Torcicolo , Humanos , Criança , Eletromiografia , Torcicolo/diagnóstico , Torcicolo/congênito , Músculos do Pescoço , EletrodosRESUMO
The study was aimed to determine the relationship between PLR (platelet to lymphocyte ratio) and the lateral pillar classification of Perthes disease, and to provide an alternative index for clinical diagnosis. In addition, the association of the PLR with the necrosis stage of Perthes disease was also explored. This was a retrospective study. 74 children with Perthes disease and 60 children in the healthy control group without femoral head necrosis in our hospital from 2012 to 2021 were collected. The general data and clinical parameters were collected from the hospital information system. The modified herring lateral pillar classification was collected for the fragmentation stage case group and the PLR, NLR (neutrophil to lymphocyte ratio), LMR (lymphocyte to monocyte ratio) and PNR (platelet to neutrophil ratio) were calculated. The cases were divided into four groups, herring A and B were group I, herring B/C and C were group II, the healthy control group was group III, and the necrosis stage was group IV. The hematological indexes (NLR, PLR, LMR, PNR) of children at different stages were statistically analyzed. Group I consisted of 36 patients, with an average age of 7.4 ± 2.0 years (3-11 years). Group II consisted of 23 patients, with an average age of 7.4 ± 1.9 years (4-12 years). Group III consisted of 60 patients, with a mean age of 7.4 ± 2.7 years (4-13 years). Group IV consisted of 15 patients, with an average age of 6.4 ± 1.7 years (3-10 years). The average values of PLR in groups I, II, III and IV were 131.98 ± 47.44, 122.19 ± 37.88, 102.46 ± 30.68 and 128.90 ± 28.11, respectively. It's worth noting that there was statistically significant difference among groups I, II and III (P = 0.003). The optimal threshold of PLR was 130.25, the sensitivity was 45.8% and the specificity was 85%. PLR was also significantly different between groups III and group IV. PLR was higher in Herring A and B classifications than in Herring B/C and C classifications. PLR had certain diagnostic value in both the necrosis stage and fragmentation stage as a risk factor.
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Doença de Legg-Calve-Perthes , Criança , Humanos , Pré-Escolar , Estudos Retrospectivos , Linfócitos , Plaquetas , Fatores de Risco , NeutrófilosRESUMO
OBJECTIVE: To investigate the correlation between the features of basement membranes (BMs) of residual myofibers in the sternocleidomastoid muscle (SCM) and fibrosis of congenital muscular torticollis (CMT) in children, and to evaluate the relationship between BM changes and appearance of CMT. MATERIALS AND METHODS: We reviewed the CMT patients from 2017 to 2018 and performed pathological studies. Forty resected specimens were stained by hematoxylin and eosin and Masson collagen staining. Immunohistochemical staining of collagen IV and laminin was also performed. Five adductor muscle specimens from patients with developmental dysplasia of the hip were used as the control group. RESULTS: Hematoxylin and eosin staining revealed apparent interstitial fibrosis around residual myofibers in lesion specimens. However, the severity of fibrosis differed within the same samples. The average percent area of fibrous tissue in affected SCMs and controls were different significantly. Immunohistochemical staining of collagen IV and laminin showed these proteins were mostly expressed in the BM and vascular wall of affected SCM. However, BMs and myofibers from three different areas within the same SCM tissue exhibited significant differences in proteins expression. CONCLUSIONS: Therefore, the defective BMs are associated with myofiber and mesenchyme fibrosis in patients with CMT, which is crucial for understanding the histopathology of SCM.
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Fibroma , Laminina , Criança , Humanos , Hematoxilina , Amarelo de Eosina-(YS) , Músculos do Pescoço , Fibrose , Fibroma/patologia , Membrana Basal/patologiaRESUMO
Importance: There are a variety of musculoskeletal malformations and injuries that can occur in newborns. These can be a significant cause of perinatal death or a reason for miscarriage and can lead to long-term functional issues if not managed appropriately. There is no systematic and well-established screening program for neonatal musculoskeletal malformations and injuries in China now. Objective: To report the incidence and types of congenital musculoskeletal malformations in two hospitals in Shenzhen City, to explore and discuss the details of the screening procedure and improve future prevention and treatment. Methods: From October 2013 to May 2014, 2564 one-day-old newborns were screened by a pediatric orthopedic physical examination, in combination with ultrasonography when required, and the incidence and variety of diseases were recorded statistically. Results: Among 2564 screened newborns, the following musculoskeletal conditions were identified: congenital muscular torticollis (CMT) (seven cases, 0.27%), hip subluxation (four cases, 0.16%), hip dysplasia (47 cases, 1.83%), congenital talipes equinovarus (CTEV) (two cases, 0.08%), congenital talipes calcaneovalgus (15 cases, 0.58%), polydactyly (nine cases, 0.35%), syndactyly (one case, 0.04%), and spinal hemivertebra (one case, 0.04%). Additionally, there were five (0.19%) neonates with birth injuries. Interpretation: It is feasible to carry out neonatal screening and identification of musculoskeletal malformations and birth injuries in China. This is helpful as timely detection and early intervention for many of these conditions can avoid permanent functional impairment in these children.
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PURPOSE: To investigate the factors influencing and long-term effects of manual myotomy (MM) occurring during physiotherapy for congenital muscular torticollis (CMT). METHODS: We retrospectively collected the clinical data of children with CMT receiving physiotherapy between 2008 and 2018. The children were divided into manual myotomy (MM) and non-manual myotomy (NMM) groups according to whether MM occurred during treatment. We assessed physiotherapy outcomes in children with CMT using craniofacial asymmetry parameters and the Cheng-Tang rating score. By measuring the ear-eye distance, ear-nose distance, eye-mouth distance, ear-mouth distance, half-head circumference, and half-head top at two sides to evaluate craniofacial asymmetry. Based on the Cheng-Tang assessment criteria, we recorded the range of rotation, range of lateral flexion, the status of the contracted muscle, the hardness of the mass, the extent of head tilting during activities and sleeping, the status of daily activities, face size, type of head shape, cranial changes, and subjective head tilting to assess the effectiveness of treatment. Clinical data and outcome indicators (craniofacial asymmetry parameters and Cheng-Tang rating score) were compared. RESULTS: The MM group had a significantly higher total Cheng-Tang rating score than the NMM group (P < 0.05). Age at initial physiotherapy session was the risk factor for MM during physiotherapy. CONCLUSION: Children with CMT developing MM during physiotherapy generally have a good outcome, although we do not recommend MM as a goal of treatment. Physiotherapists should understand this phenomenon, assess relevant factors to predict risk, and carefully observe treatment to prevent possible complications.
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Fibroma , Miotomia , Torcicolo , Criança , Humanos , Lactente , Músculos do Pescoço , Modalidades de Fisioterapia , Estudos Retrospectivos , Torcicolo/complicações , Torcicolo/congênito , Torcicolo/cirurgia , Resultado do TratamentoRESUMO
BACKGROUND: Fractures are the most common type of unintentional injury in children, with traumatic upper limb fractures accounting for approximately 80% of all childhood fractures. Many epidemiological investigations of upper limb fractures in children have been conducted, but with the development of society, the patterns of childhood fractures may have changed. This study aimed to analyze the epidemiology and economic cost factors of upper limb fractures in Chinese children. METHODS: We retrospectively reviewed children with upper limb fractures or old upper limb fractures hospitalized between December 1, 2015, and December 31, 2019, in 22 tertiary children's hospitals, under China's Futang Research Center of Pediatric Development. We used the ICD10 codes on the front sheet of their medical records to identify cases and extracted data on age, sex, injury cause, fracture site, treatment, the year of admission and discharge, visiting time, and various costs during hospitalization from the medical record. RESULTS: A total of 32,439 children (21,478 boys and 10,961 girls) were identified, of whom 32,080 had fresh fractures and 359 had old fractures. The peak age was 3-6 years in both sexes. A total of 4788 were infants, 14,320 were preschoolers, 10,499 were in of primary school age, and 2832 were adolescent. Fractures were most frequent in autumn (August to October). Admissions peaked at 0 o'clock. Among the 32,080 children with fresh upper limb fractures, the most common fracture site was the distal humerus, with a total of 20,090 fracture events including 13,134 humeral supracondylar fractures and 4914 lateral humeral condyle fractures. The most common cause of injuries was falling over. The most common joint dislocation accompanying upper limb fractures occurred in the elbow, involving 254 cases. Surgery was performed in 31,274 children, and 806 did not receive surgery. Among those with clear operative records, 10,962 children were treated with open reduction and 18,066 with closed reduction. The number of cases was largest in the East China region (Anhui Province, Shandong Province, Jiangsu Province, Zhejiang Province, and Fujian Province), with 12,065 cases overall. Among the 359 children with old fractures, 118 were admitted with a diagnosis of "old humerus fracture," accounting for the highest proportion; 244 underwent surgical open reduction, 16.16% of whom had osteotomy. For the children with fresh fractures, the average total hospital cost was 10,994 yuan, and the highest average total hospital cost was 14,053 yuan, for humeral shaft fractures. For the children with old fractures, the average total hospital cost was 15,151 yuan, and the highest average total hospital cost was 20,698 yuan, for old ulna fractures. Cost of materials was the principle factor affecting total hospital cost, followed by surgery and anesthesia costs, both in children with fresh fractures and those with old fractures. Significant differences were observed in all hospital costs (P < 0.001) except treatment costs (P = 0.702), between children with fresh fractures and those with old fractures. Among the 32,439 children, full self-payment accounted for the highest proportion of all payment methods, involving 17,088 cases, with an average cost of 11,111 yuan. CONCLUSION: Information on the epidemiological characteristics of childhood fractures suggests that health and safety education and protective measures should be strengthened to prevent upper limb fractures in children. For both fresh and old fractures, the cost of materials was the principal factor affecting total hospital cost, followed by surgery and anesthesia costs. The overall average total hospital cost is higher in children with old fractures than in children with fresh fractures. Among all children, full self-payment, at 53% of children, accounted for the highest proportion of all payment methods. Hospital costs are a headache for those families who will pay on their own. It can lead to a delayed treatment and unhealed fractures or malunion in some children. Therefore, the child trauma care system and training on fractures need to be improved, to reduce the late presentation of fractures. These combined measures will improve children's quality of life, reduce the expenditure of families, and decrease the public health burden. To provide better medical services for children, authorities must improve the allocation of health resources, establish a comprehensive medical security system for children, and set up more child trauma centers.
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Criança Hospitalizada , Fraturas do Úmero , Adolescente , Criança , Pré-Escolar , Cotovelo , Feminino , Humanos , Fraturas do Úmero/cirurgia , Fraturas do Úmero/terapia , Lactente , Masculino , Qualidade de Vida , Estudos Retrospectivos , Centros de Atenção TerciáriaRESUMO
PURPOSE: To explore and analyze the causes and related influencing factors of pediatric fractures, and provide theoretical basis for reducing the incidence and adverse effects of pediatric fractures. METHODS: This study retrospectively analyzed the epidemiological characteristics of fractures in pediatric aged ≤18 years old who were admitted to the our hospital between July 2015 and February 2020. RESULTS: A total of 10,486 pediatric patients were included in the study, of whom 6961 (66.38%) were boys, and 3525 (33.62%) were girls. For the fracture incidence, age group of the 3-6 years reached the peak. 5584 (60.76%) children were operated upon within 12 h after admission. The top three types of fractures were the distal humerus (3843 sites, 27.49%), distal ulna (1740 sites, 12.44%), and distal radius (1587 sites, 11.35%). The top three causes of injury were falls (7106 cases, 82.10%), car accidents (650 cases, 65.72%), and clipping (465 cases, 5.37%). Fractures predominantly occurred between July and November (4664 cases, 48.87%) and on Saturdays and Sundays (3172 cases, 33.24%). The highest number of hospital visits occurred between 20:00 and 00:00 (4339 cases, 45.46%). CONCLUSION: For pediatric fractures, we should take appropriate and effective preventive measures to reduce the incidence of children's fractures according to the distribution characteristics of age, gender, cause of injury, and fracture site.
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Fraturas Ósseas , Articulação do Punho , Adolescente , Criança , Pré-Escolar , Feminino , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/etiologia , Fraturas Ósseas/terapia , Hospitais , Humanos , Incidência , Masculino , Estudos RetrospectivosAssuntos
Fixação Intramedular de Fraturas , Pinos Ortopédicos , Criança , Diáfises , Humanos , Tíbia , TraçãoRESUMO
BACKGROUND: Unintentional injury is one of the top three causes of death for infants. However, the epidemiological studies of skeletal trauma and skull fractures in infants younger than 1 year were poorly understood in China. Therefore, our study aimed to examine accidental and emergency attendance in infants under 1 year. It also tried to determine the prevalence and severity of accident types in infants. METHODS: A retrospective analysis was performed on the demographic characteristics of infants younger than 1 year with skeletal trauma and skull fractures who visited the Shenzhen Children's Hospital from January 1, 2016 to December 31, 2019. Age, gender, fracture site and type, mechanism of injury, length of visit, length of hospital stay, hospitalization cost, and treatment methods were analyzed. RESULTS: A total number of 675 fractures in 664 infants were included, the median age was 187days (IQR,90-273days), including 394 males and 270 females. The top three fracture sites were the skull (430 sites, 63.70 %), long bones of the limbs (168 sites, 24.89 %), and clavicle (53 sites, 7.85 %). The top three causes of injury were locomotion injuries (256 cases, 38.55 %), falls or trips from low height (from beds, tables, chairs, etc.) (130 cases, 19.58 %), and birth injuries (97 cases, 14.61 %). The greatest amount of fractures occurred in children 1-28 days of life (d) reached a top of 101 cases, followed by 331-365 days, accounting for 15.21 and 10.24 %, respectively. The number of fractures reached a trough of 29 cases in the 29-60d group (4.37 %). And increased again to 65 cases in the 151-180d group (9.79 %). The proportion remained relatively constant at 9 % in the 181-210d group (9.19 %) and 211-240d group (9.64 %). The interval between injury and visiting our hospital was ≤ 72 h in 554 cases. CONCLUSIONS: Special attention should be given to the demographic characteristics of fractures in infants under 1 year of age, and appropriate outreach should be implemented. For example, health education should be provided to aid in the prevention especially for frequently occurring locomotion injuries, and prompt access to specialist medical care should be recommended for skull fractures, which are prone to delayed treatment. In addition, multidisciplinary collaboration should be implemented in trauma care, while also promoting the establishment of trauma centers in specialist children's hospitals with a stronger capacity to treat pediatric trauma, and a regional system for pediatric trauma treatment.
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Fraturas Cranianas , Acidentes por Quedas , Criança , China , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , CrânioRESUMO
Background: Idiopathic congenital talipes equinovarus (ICTEV) is one of the most common congenital deformities of children, and dysplasia of the striated muscle may be one of the causes of ICTEV. Previous studies have shown that polymorphisms of the rs4075583 SNP in the tropomyosin gene 1 (TPM1) were associated with ICTEV in Caucasian children. However, there are no studies investigating the correlations of TPM gene polymorphisms with the risk of ICTEV in Chinese children. Methods: We conducted a case-control study, including 430 children with ICTEV and 891 ICTEV-free children. We explored the potential correlations of three TPM gene polymorphisms (TPM1/rs4075583 G>A, tropomyosin gene 2 (TPM2)/rs2145925 C>T, and TPM2/rs2025126 G>A) with ICTEV risk. The three single nucleotide polymorphisms (SNPs) were genotyped using a TaqMan method. We calculated the odds ratios (ORs) and adjusted ORs and their 95% confidence intervals (CIs) to explore the associations between these selected SNP polymorphisms and ICTEV. Results: TPM1 rs4075583 A was found to be associated with an increased ICTEV risk (AA vs. GG: adjusted OR = 1.70, 95% CI = 1.15-2.49, p = 0.007; and GG/GA vs. AA: adjusted OR = 1.62, 95% CI = 1.14-2.31, p = 0.0071) after adjusting for age and sex. In addition, a risk effect of rs4075583 GA/AA with ICETV was observed for patients with affected right feet (adjusted OR = 1.62, 95% CI = 1.10-2.39, p = 0.014) in the stratified analysis. However, there were no significant differences in the risk for ICTEV associated with the rs2145925 and rs2025126 polymorphisms. Conclusion: These results indicate that the TPM1 rs4075583 G > A polymorphism is associated with ICTEV risk in a southern Chinese population; however, this finding needs to be confirmed in larger studies and through mechanistic studies.
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Pé Torto Equinovaro/genética , Tropomiosina/genética , Alelos , Povo Asiático/genética , Estudos de Casos e Controles , Criança , Pré-Escolar , China , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , Tropomiosina/metabolismoRESUMO
Parkinson's disease (PD) is a neurodegenerative disease, leading to the impairment of movement execution. PD pathogenesis has been largely investigated, either limited to bulk transcriptomic levels or at certain cell types, which failed to capture the cellular heterogeneity and intrinsic interplays among distinct cell types. Here, we report the application of single-nucleus RNA-seq on midbrain, striatum, and cerebellum of the α-syn-A53T mouse, a well-established PD mouse model, and matched controls, generating the first single cell transcriptomic atlas for the PD model mouse brain composed of 46,174 individual cells. Additionally, we comprehensively depicte the dysfunctions in PD pathology, covering the elevation of NF-κB activity, the alteration of ion channel components, the perturbation of protein homeostasis network, and the dysregulation of glutamatergic signaling. Notably, we identify a variety of cell types closely associated with PD risk genes. Taken together, our study provides valuable resources to systematically dissect the molecular mechanism of PD pathogenesis at the single-cell resolution, which facilitates the development of novel approaches for diagnosis and therapies against PD.
Assuntos
Encéfalo/metabolismo , Proteínas de Filamentos Intermediários/genética , Proteínas Musculares/genética , Doença de Parkinson/genética , Transcriptoma/genética , Animais , Encéfalo/patologia , Encéfalo/ultraestrutura , Cerebelo/metabolismo , Cerebelo/patologia , Cerebelo/ultraestrutura , Corpo Estriado/metabolismo , Corpo Estriado/patologia , Corpo Estriado/ultraestrutura , Modelos Animais de Doenças , Humanos , Mesencéfalo/metabolismo , Mesencéfalo/patologia , Mesencéfalo/ultraestrutura , Camundongos , NF-kappa B/genética , Doença de Parkinson/patologia , RNA-Seq , Análise de Célula Única/tendênciasRESUMO
Olfaction, the sense of smell, is a fundamental trait crucial to many species. The olfactory bulb (OB) plays pivotal roles in processing and transmitting odor information from the environment to the brain. The cellular heterogeneity of the mouse OB has been studied using single-cell RNA sequencing. However, the epigenetic landscape of the mOB remains mostly unexplored. Herein, we apply single-cell assay for transposase-accessible chromatin sequencing to profile the genome-wide chromatin accessibility of 9,549 single cells from the mOB. Based on single-cell epigenetic signatures, mOB cells are classified into 21 clusters corresponding to 11 cell types. We identify distinct sets of putative regulatory elements specific to each cell cluster from which putative target genes and enriched potential functions are inferred. In addition, the transcription factor motifs enriched in each cell cluster are determined to indicate the developmental fate of each cell lineage. Our study provides a valuable epigenetic data set for the mOB at single-cell resolution, and the results can enhance our understanding of regulatory circuits and the therapeutic capacity of the OB at the single-cell level.
Assuntos
Cromatina/genética , Bulbo Olfatório/metabolismo , Animais , Linhagem da Célula , Cromatina/metabolismo , Análise por Conglomerados , Epigênese Genética , Epigenômica , Redes Reguladoras de Genes , Camundongos , Motivos de Nucleotídeos , Bulbo Olfatório/citologia , Elementos Reguladores de Transcrição , Análise de Célula Única , Fatores de Transcrição/metabolismo , Vírus/genéticaRESUMO
BACKGROUND: The objective of this study was to compare the outcomes and complications of patients who underwent either the calcaneal skeletal traction (CST) or the elastic intramedullary nails (EIN) procedure. METHODS: We retrospectively reviewed data of patients who underwent EIN or CST surgery for tibia shaft fracture at our center from 2013 to 2018. The patient demographics, fracture characteristics, radiographic information, length of hospital stay, and medical expenses were recorded. All patients were clinically followed-up until they started to walk or for at least 6 months. The treatment outcomes and postoperative complications of the two procedures were compared. RESULTS: Overall, 186 patients who underwent EIN and CST were included in the study. The EIN patients had more low-energy mechanism of injury. In radiographic evaluation, significant differences were observed in distributions of fracture classification and location. Moreover, associated fibula fractures were higher in the EIN group than in the CST group. The CST procedure had faster surgical time, cast duration and lower expenses, and longer hospitalization time. Although they required more clinical visits, patients in the EIN group began exercising and endured weight-bearing earlier than those in the CST group. The average time for bone healing was 68.5 days in the EIN group, and 69.6 days in the CST group. However, the CST provided slight better results of coronal correction than EIN. Moreover, CST patients had less malalignment (> 5°) in complications. None had delay union, nonunion, and shortening over 10 mm at final assessment. CONCLUSIONS: Both EIN and CST patients showed similar treatment outcomes. Hence, not only the characteristics of the patient and fracture, but also the individual's situation and expectation should be considered when choosing the best approach.