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The craniovertebral junction (CVJ) is an anatomically complex region of the axial skeleton that provides protection of the brainstem and the upper cervical spinal cord. Structural malformation of the CVJ gives rise to life-threatening neurological deficits, such as quadriplegia and dyspnea. Unfortunately, genetic studies on human subjects with CVJ malformation are limited and the pathogenesis remains largely elusive. In this study, we recruited 93 individuals with CVJ malformation and performed exome sequencing. Manual interpretation of the data identified three pathogenic variants in genes associated with Mendelian diseases, including CSNK2A1, MSX2, and DDX3X. In addition, the contribution of copy number variations (CNVs) to CVJ malformation was investigated and three pathogenic CNVs were identified in three affected individuals. To further dissect the complex mutational architecture of CVJ malformation, we performed a gene-based rare variant association analysis utilizing 4371 in-house exomes as control. Rare variants in LGI4 (carrier rate = 3.26%, p = 3.3 × 10-5) and BEST1 (carrier rate = 5.43%, p = 5.77 × 10-6) were identified to be associated with CVJ malformation. Furthermore, gene set analyses revealed that extracellular matrix- and RHO GTPase-associated biological pathways were found to be involved in the etiology of CVJ malformation. Overall, we comprehensively dissected the genetic underpinnings of CVJ malformation and identified several novel disease-associated genes and biological pathways.
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Articulação Atlantoaxial , Variações do Número de Cópias de DNA , Humanos , Articulação Atlantoaxial/patologia , Quadriplegia , Suscetibilidade a Doenças/patologia , BestrofinasRESUMO
INTRODUCTION: Adult non-degenerative scoliosis accounts for 90% of spinal deformities in young adults. However, perioperative complications and related risk factors of long posterior instrumentation and fusion for the treatment of adult non-degenerative scoliosis have not been adequately studied. METHODS: We evaluated clinical and radiographical results from 146 patients with adult non-degenerative scoliosis who underwent long posterior instrumentation and fusion. Preoperative clinical data, intraoperative variables, and perioperative radiographic parameters were collected to analyze the risk factors for perioperative complications. Potential and independent risk factors for perioperative complications were evaluated by univariate analysis and logistic regression analysis. RESULTS: One hundred forty-six adult non-degenerative scoliosis patients were included in our study. There were 23 perioperative complications for 21 (14.4%) patients, eight of which were cardiopulmonary complications, two of which were infection, six of which were neurological complications, three of which were gastrointestinal complications, and four of which were incision-related complication. The independent risk factors for development of total perioperative complications included change in Cobb angle (odds ratio [OR] = 1.085, 95% CI = 1.035 ~ 1.137, P = 0.001) and spinal osteotomy (OR = 3.565, 95% CI = 1.039 ~ 12.236, P = 0.043). The independent risk factor for minor perioperative complications is change in Cobb angle (OR = 1.092, 95% CI = 1.023 ~ 1.165, P = 0.008). The independent risk factors for major perioperative complications are spinal osteotomy (OR = 4.475, 95% CI = 1.960 ~ 20.861, P = 0.036) and change in Cobb angle (OR = 1.106, 95% CI = 1.035 ~ 1.182, P = 0.003). CONCLUSIONS: Our study indicate that change in Cobb angle and spinal osteotomy are independent risk factors for total perioperative complications after long-segment posterior instrumentation and fusion in adult non-degenerative scoliosis patients. Change in Cobb angle is an independent risk factor for minor perioperative complications. Change in Cobb angle and spinal osteotomy are independent risk factors for major perioperative complications.
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Escoliose , Fusão Vertebral , Humanos , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/cirurgia , Radiografia , Estudos Retrospectivos , Escoliose/diagnóstico por imagem , Escoliose/epidemiologia , Escoliose/cirurgia , Fusão Vertebral/efeitos adversos , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant MED (AD-MED) cases are caused by COMP mutations. METHODS: We recruited a four-generation Chinese family with early-onset hip osteoarthritis, flatfoot, brachydactyly, and mild short stature. An assessment of the family history, detailed physical examinations, and radiographic evaluations were performed on the proband and other family members, followed by the performance of whole-exome sequencing (WES). The pathogenicity of the candidate mutation was also analyzed. RESULTS: An AD-MED family with 10 affected members and 17 unaffected members was recruited. The main radiographic findings were symmetrical changes in the dysplastic acetabulum and femoral heads, irregular contours of the epiphyses, a shortened femoral neck, and flatfoot. Lower bone density was also observed in the ankle joints, wrist joints, and knees, as well as irregular vertebral end plates. In the proband, we identified the missense mutation c.1153G > T (p. Asp385Tyr), located in exon 11 of the COMP gene. This mutation was assessed as 'pathogenic' because of its low allele frequency and its high likelihood of co-segregation with disease in the reported family. Sanger sequencing validated the novel heterozygous mutation c.1153G > T (p. Asp385Tyr) in exon 11 of COMP in all affected individuals in the family. CONCLUSIONS: Our results underlined a key role of the Asp385 amino acid in the protein function of COMP and confirmed the pathogenicity of the COMP (c.1153G > T; p. Asp385Tyr) mutation in AD-MED disease. We have therefore expanded the known mutational spectrum of COMP and revealed new phenotypic information for AD-MED.
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Proteína de Matriz Oligomérica de Cartilagem/genética , Família , Estudos de Associação Genética , Predisposição Genética para Doença , Mutação , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Adolescente , Adulto , Idoso , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/patologia , Proteína de Matriz Oligomérica de Cartilagem/química , Criança , Feminino , Estudos de Associação Genética/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Moleculares , Linhagem , Fenótipo , Conformação Proteica , Relação Estrutura-Atividade , Sequenciamento do Exoma , Adulto JovemRESUMO
BACKGROUND: A systematic review and meta-analysis was performed to investigate the risks associated with anterior knee pain (AKP) following primary total knee arthroplasty (TKA). METHODS: A computerized search was performed of the following databases: MEDLINE, Embase, and Cochrane Central (published prior to July 2017). A total of 37 studies, which included 1641 cases of AKP and 168,090 TKAs, were included in the meta-analysis. RESULTS: A subgroup analysis revealed that compared with those without the following medical conditions, patients who had an infrapatellar fat pad excision and more than 12 months of follow-up (odds ratio [OR] 12.58, 95% confidence interval [CI] 3.245-48.781) were more likely to have AKP after TKA. Circumpatellar electrocautery (>12 months: OR 0.50, 95% CI 0.326-0.760; ≤12 months: OR 0.59, 95% CI 0.408-0.867) and patellar resurfacing (OR 0.25, 95% CI 0.131-0.485) may decrease the risk of AKP. Other factors, including the prosthesis bearing type (mobile bearing or fixed bearing) and the approach (midvastus compared with the medial parapatellar approach), were not significant risk factors for AKP. CONCLUSION: The use of strategies such as patellar denervation and patellar resurfacing in primary TKA is recommended because they are safe and result in good clinical outcomes in preventing AKP. Caution should be taken when using an infrapatellar fat pad excision, because there is an increased risk of AKP at long-term follow-up (>12 months). Future studies should investigate these different strategies to confirm the underlying mechanisms and help prevent the occurrence of AKP after TKA. The timing of AKP onset remains unclear and requires further research.
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Artroplastia do Joelho/efeitos adversos , Articulação do Joelho/cirurgia , Osteoartrite do Joelho/cirurgia , Dor Pós-Operatória/etiologia , Tecido Adiposo/patologia , Denervação , Eletrocoagulação , Humanos , Patela/inervação , Patela/cirurgia , Projetos de Pesquisa , Fatores de Risco , Resultado do TratamentoRESUMO
BACKGROUND: Thoracolumbar burst fractures are a common traumatic vertebral fracture in the spine, and pedicle screw fixation has been widely performed as a safe and effective procedure. However, after the stabilization of the thoracolumbar burst fractures, whether or not to remove the pedicle screw implant remains controversial. This review aimed to assess the benefits and risks of pedicle screw instrument removal after fixation of thoracolumbar burst fractures. METHODS: Data sources, including PubMed, EMBASE, Cochrane Library, Web of Science, Google Scholar, and Clinical trials.gov, were comprehensively searched. All types of human studies that reported the benefits and risks of implant removal after thoracolumbar burst fractures, were selected for inclusion. Clinical outcomes after implant removal were collected for further evaluation. RESULTS: A total of 4051 papers were retrieved, of which 35 studies were eligible for inclusion in the review, including four case reports, four case series, and 27 observational studies. The possible risks of pedicle screw removal after fixation of thoracolumbar burst fractures include the progression of the kyphotic deformity and surgical complications (e.g., surgical site infection, neurovascular injury, worsening pain, revision surgery), while the potential benefits of pedicle screw removal mainly include improved segmental range of motion and alleviated pain and disability. Therefore, the potential benefits and possible risks should be weighed to support patient-specific clinical decision-making about the removal of pedicle screws after the successful fusion of thoracolumbar burst fractures. CONCLUSIONS: There was conflicting evidence regarding the benefits and harms of implant removal after successful fixation of thoracolumbar burst fractures, and the current literature does not support the general recommendation for removal of the pedicle screw instruments, which may expose the patients to unnecessary complications and costs. Both surgeons and patients should be aware of the indications and have appropriate expectations of the benefits and risks of implant removal. The decision to remove the implant or not should be made individually and cautiously by the surgeon in consultation with the patient. Further studies are warranted to clarify this issue. LEVEL OF EVIDENCE: level 1.
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Background: Hepatocellular carcinoma (HCC) is the major cause of malignancy-related deaths worldwide, and its incidence is likely to increase in the future as life expectancy increases. Therefore, the management of elderly patients with HCC has become a global issue. Aim of this study was to assess whether elderly patients with small HCC could obtain survival benefit from cryoablation (CRYO) in a real-world. Materials and methods: From July 2007 to June 2013, 185 patients with small HCC who underwent curative-intent percutaneous CRYO. All patients were divided into three groups according to age distribution. Overall survival (OS) and tumor-free survival (TFS) were compared between among of groups before and after the 1:1 propensity score matching, respectively. Univariate and multivariate Cox analyses were performed to determine the potential relationships between variables and prognostic outcomes. Results: One hundred and eighty-five patients (144 men, 41 women) received CRYO for small HCC, including 59 patients with age <50 years, 105 patients with age between 50 and 65 years, and 21 patients with age >65 years. The three age groups showed significant differences in the terms of underlying chronic liver disease and the number of patients with minor postoperative complications. After propensity score matching, the younger and elderly groups showed significant differences in mean OS (P=0.008) and tumor progression (P=0.050). However, no significant differences were shown in mean progression-free survival (PFS) (P=0.303). The Cox multivariate analysis showed that the Child-Pugh grade (HR=3.1, P<0.001), albumin (HR=0.85, P=0.004) and total of bilirubin (HR=1, P=0.024) were the independent prognostic factor for mean OS. Conclusion: Our propensity-score-matched study suggested that elderly patients with small HCC can achieve acceptable prognostic outcomes with PFS similar to those of younger patients with small HCC after treatment with CRYO, while Child-Pugh grade, bilirubin and serum albumin levels were associated with the prognosis of small HCCs.
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Objective: Gestational diabetes mellitus (GDM) is a serious threat to maternal and child health. However, there isn't a standard predictive model for the disorder in early pregnancy. This study is to investigate the association of blood indexes with GDM and establishes a practical predictive model in early pregnancy for GDM. Methods: This is a prospective cohort study enrolling 413 pregnant women in the department of Obstetrics and Gynecology in Shanghai General Hospital from July 2020 to April 2021.A total of 116pregnantwomen were diagnosed with GDM during the follow-up. Blood samples were collected at early trimester (gestational weeks 12-16) and second trimester(gestational weeks 24-26 weeks). A predictive nomogram was established based on results of the multivariate logistic model and 5-fold cross validation. We evaluate the nomogram by the area under the receiver operating characteristic curve (AUC), calibration curves and decision curve analysis (DCAs). Results: Significant differences were observed between the GDM and normal controls among age, pre-pregnancy BMI, whether the pregnant women with complications, the percentage of B lymphocytes, fasting plasma glucose (FPG), HbA1c, triglyceride and the level of progesterone in early trimester. Risk factors used in nomogram included age, pre-pregnancy BMI, FPG, HbA1c, the level of IgA, the level of triglyceride, the percentage of B lymphocytes, the level of progesterone and TPOAb in early pregnancy. The AUC value was 0.772, 95%CI (0.602,0.942). The calibration curves for the probability of GDM demonstrated acceptable agreement between the predicted outcomes by the nomogram and the observed values. DCA curves showed good positive net benefits in the predictive model. Conclusions: A novel predictive nomogram was developed for GDM in our study, which could do help to patient counseling and management during early pregnancy in clinical practice.
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Diabetes Gestacional/diagnóstico , Nomogramas , Primeiro Trimestre da Gravidez , Adulto , Estudos de Casos e Controles , China , Feminino , Idade Gestacional , Humanos , Valor Preditivo dos Testes , Gravidez , Diagnóstico Pré-Natal/métodos , Prognóstico , Fatores de RiscoRESUMO
Genetic perturbations in nicotinamide adenine dinucleotide de novo (NAD) synthesis pathway predispose individuals to congenital birth defects. The NADSYN1 encodes the final enzyme in the de novo NAD synthesis pathway and, therefore, plays an important role in NAD metabolism and organ embryogenesis. Biallelic mutations in the NADSYN1 gene have been reported to be causative of congenital organ defects known as VCRL syndrome (Vertebral-Cardiac-Renal-Limb syndrome). Here, we analyzed the genetic variants in NADSYN1 in an exome-sequenced cohort consisting of patients with congenital vertebral malformations (CVMs). A total number of eight variants in NADSYN1, including two truncating variants and six missense variants, were identified in nine unrelated patients. All enrolled patients presented multiple organ defects, with the involvement of either the heart, kidney, limbs, or liver, as well as intraspinal deformities. An in vitro assay using COS-7 cells demonstrated either significantly reduced protein levels or disrupted enzymatic activity of the identified variants. Our findings demonstrated that functional variants in NADSYN1 were involved in the complex genetic etiology of CVMs and provided further evidence for the causative NADSYN1 variants in congenital NAD Deficiency Disorder.
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Carbono-Nitrogênio Ligases com Glutamina como Doadora de N-Amida/genética , Doenças da Coluna Vertebral/congênito , Doenças da Coluna Vertebral/genética , Coluna Vertebral/anormalidades , Sequência de Aminoácidos , Animais , Células COS , Carbono-Nitrogênio Ligases com Glutamina como Doadora de N-Amida/química , Chlorocebus aethiops , Estudos de Coortes , Humanos , Mutação , Alinhamento de Sequência , Sequenciamento do ExomaRESUMO
The aim of this study was to investigate the therapeutic efficacy and safety of transplanting human umbilical cord blood-derived mesenchymal stem cells (hUCB-MSCs) in the treatment of cartilage injury. First, the articular cartilage defect model in rabbits was constructed. Then, the identified hUCB-MSCs and rabbit bone marrow stem cells (rBM-MSCs) were transplanted into the bone defect, respectively, and the cartilage repair effect was observed by hematoxylin-eosin (HE) staining and immunohistochemistry. Besides, the glycosaminoglycan (GAG) content and biomechanics of the restoration area were also evaluated. In our study, hUCB-MSCs and rBM-MSCs exhibited typical MSC characteristics, with positive expressions of CD73, CD105, and CD90 and negative for CD45, CD34, CD14, and HLA-DR. After the transplantation of hUCB-MSCs and rBM-MSCs, the overall quality of cartilage tissue was significantly improved, and the recipients did not show significant side effects in general. However, the expression of matrix metalloproteinase-13 (MMP-13) in the de novo tissues of the hUCB-MSCs and rBM-MSCs groups was both increased, indicating that the novel tissues may have some potential osteoarthritic changes. In conclusion, our results suggest the therapeutic effect of hUCB-MSCs transplantation in cartilage regeneration, providing a promising future in the clinical treatment of cartilage injury.
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Antígenos de Diferenciação/metabolismo , Cartilagem Articular , Sangue Fetal/metabolismo , Transplante de Células-Tronco Mesenquimais , Células-Tronco Mesenquimais/metabolismo , Osteoartrite , Animais , Cartilagem Articular/lesões , Cartilagem Articular/metabolismo , Cartilagem Articular/patologia , Xenoenxertos , Humanos , Osteoartrite/metabolismo , Osteoartrite/patologia , Osteoartrite/terapia , CoelhosRESUMO
PURPOSE: ROR2, a member of the ROR family, is essential for skeletal development as a receptor of Wnt5a. The present study aims to investigate the mutational spectrum of ROR2 in children with short stature and to identify the underlying molecular mechanisms. METHODS: We retrospectively analyzed clinical phenotype and whole-exome sequencing (WES) data of 426 patients with short stature through mutation screening of ROR2. We subsequently examined the changes in protein expression and subcellular location in ROR2 caused by the mutations. The mRNA expression of downstream signaling molecules of the Wnt5a-ROR2 pathway was also examined. RESULTS: We identified 12 mutations in ROR2 in 21 patients, including 10 missense, one nonsense, and one frameshift. Among all missense variants, four recurrent missense variants [c.1675G > A(p.Gly559Ser), c.2212C > T(p.Arg738Cys), c.1930G > A(p.Asp644Asn), c.2117G > A(p.Arg706Gln)] were analyzed by experiments in vitro. The c.1675G > A mutation significantly altered the expression and the cellular localization of the ROR2 protein. The c.1675G > A mutation also caused a significantly decreased expression of c-Jun. In contrast, other missense variants did not confer any disruptive effect on the biological functions of ROR2. CONCLUSION: We expanded the mutational spectrum of ROR2 in patients with short stature. Functional experiments potentially revealed a novel molecular mechanism that the c.1675G > A mutation in ROR2 might affect the expression of downstream Wnt5a-ROR2 pathway gene by disturbing the subcellular localization and expression of the protein.
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Purpose: Congenital growth hormone deficiency (GHD) is a rare and etiologically heterogeneous disease. We aim to screen disease-causing mutations of GHD in a relatively sizable cohort and discover underlying mechanisms via a candidate gene-based mutational burden analysis. Methods: We retrospectively analyzed 109 short stature patients associated with hormone deficiency. All patients were classified into two groups: Group I (n=45) with definitive GHD and Group II (n=64) with possible GHD. We analyzed correlation consistency between clinical criteria and molecular findings by whole exome sequencing (WES) in two groups. The patients without a molecular diagnosis (n=90) were compared with 942 in-house controls for the mutational burden of rare mutations in 259 genes biologically related with the GH axis. Results: In 19 patients with molecular diagnosis, we found 5 possible GHD patients received known molecular diagnosis associated with GHD (NF1 [c.2329T>A, c.7131C>G], GHRHR [c.731G>A], STAT5B [c.1102delC], HRAS [c.187_207dup]). By mutational burden analysis of predicted deleterious variants in 90 patients without molecular diagnosis, we found that POLR3A (p = 0.005), SUFU (p = 0.006), LHX3 (p = 0.021) and CREB3L4 (p = 0.040) represented top genes enriched in GHD patients. Conclusion: Our study revealed the discrepancies between the laboratory testing and molecular diagnosis of GHD. These differences should be considered when for an accurate diagnosis of GHD. We also identified four candidate genes that might be associated with GHD.
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Sequenciamento do Exoma , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/genética , Criança , Pré-Escolar , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/genética , DNA/sangue , Análise Mutacional de DNA , Feminino , Humanos , Fator de Crescimento Insulin-Like I/genética , Proteínas com Homeodomínio LIM/genética , Masculino , RNA Polimerase III/genética , Proteínas Repressoras/genética , Estudos Retrospectivos , Fatores de Transcrição/genéticaRESUMO
BACKGROUND: Congenital scoliosis (CS) is a spinal deformity due to vertebral malformations. Although insufficiency of TBX6 dosage contributes to a substantial proportion of CS, the molecular etiology for the majority of CS remains largely unknown. TBX6-mediated genes involved in the process of somitogenesis represent promising candidates. METHODS: Individuals affected with CS and without a positive genetic finding were referred to this study. Proband-only exome sequencing (ES) were performed on the recruited individuals, followed by analysis of TBX6-mediated candidate genes, namely MEOX1, MEOX2, MESP2, MYOD1, MYF5, RIPPLY1, and RIPPLY2. RESULTS: A total of 584 patients with CS of unknown molecular etiology were recruited. After ES analysis, protein-truncating variants in RIPPLY1 and MYF5 were identified from two individuals, respectively. In addition, we identified five deleterious missense variants (MYOD1, n = 4; RIPPLY2, n = 1) in TBX6-mediated genes. We observed a significant mutational burden of MYOD1 in CS (p = 0.032) compared with the in-house controls (n = 1854). Moreover, a potential oligogenic disease-causing mode was proposed based on the observed mutational co-existence of MYOD1/MEOX1 and MYOD1/RIPPLY1. CONCLUSION: Our study characterized the mutational spectrum of TBX6-mediated genes, prioritized core candidate genes/variants, and provided insight into a potential oligogenic disease-causing mode in CS.
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Frequência do Gene , Loci Gênicos , Herança Multifatorial , Escoliose/genética , Proteínas com Domínio T/genética , Proteínas de Homeodomínio/genética , Humanos , Mutação de Sentido Incorreto , Proteína MyoD/genética , Fator Regulador Miogênico 5/genética , Proteínas Repressoras/genética , Escoliose/diagnóstico por imagem , Fatores de Transcrição/genéticaRESUMO
OBJECTIVE: To investigate epidemiological characteristics of geriatric hip fractures between 2010 and 2011 in Hebei province. METHODS: The digital radiography image data and basic information of patients above 60 years old with hip fractures (femoral neck fracture, femoral intertrochanteric fracture, and femoral head fracture) in 5 hospitals of Hebei province between January 2010 and December 2011 were analyzed retrospectively. All the data including patients' gender, age, and AO types were abstracted and analyzed to investigate the epidemiologic characteristics of geriatric hip fractures in Hebei province. RESULTS: A total of 4 207 hip fracture patients above 60 years old were included, accounting for 59.61% of all patients with hip fractures and 26.24% of all fractures patients over 60 years old in the same period. There were 1 703 (40.48%) males and 2 504 (59.52%) females (Mâ¶F=1â¶1.47). The patients ranged in age from 61 to 99 years, with an average of 75.4 years; the majority of patients aged 70-79 years (43.97%) and the minority of the patients aged 90-99 years (2.02%); women of all ages were more than men, but the difference was not significant ( P>0.05). According to AO classification, there were 2 118 cases (50.34%) of type 31-A, 2 004 case (47.63%) of type 31-B, and 85 cases (2.02%) of type 31-C. Except for the type 31-A1, 31-A3, and 31-C1 of 60-69 age group, and the type 31-A3 of 80-89 age groups, women were significantly more than men. CONCLUSION: There are more women than men in hip fractures in Hebei province, and 70-79 age group is the high-risk age group of geriatric hip fractures. Among them, intertrochanteric comminuted fractures are common types.
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Fraturas do Quadril/epidemiologia , Idoso , Idoso de 80 Anos ou mais , China/epidemiologia , Feminino , Fraturas do Fêmur , Fraturas do Colo Femoral , Fêmur , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
PURPOSE: This study aims to investigate the incidence of low-energy fractures in men aged 50 years and older in China and to explore associated risk factors. METHODS: All the relevant data were available from the China National Fracture Survey (CNFS), which was a cross-sectional survey carried out in eight Chinese provinces (municipalities) between January and May 2015. RESULTS: Through 2014, 76,687 men above 50 years participated in this study and 223 participants had low-energy fractures, indicating the incidence rate 290.8 (95%CI, 252.7-328.9)/100,000 men. Over 80% of the fractures occurred at home and on the common road. The fracture incidence rate presented a significant rising trend with advanced age (p = 0.039). Current smoking, alcohol overconsumption, insufficient sleep duration, and history of past fracture were identified as significant risk factors associated with low-energy fracture (p < 0.05). CONCLUSIONS: These results will assist the decisions regarding allocation of healthcare provision to populations of greatest need and aid the design and implementation of strategies to reduce fracture incidence. Accordingly, individuals should be encouraged to reduce alcohol consumption, immediately quit smoking, and get sufficient sleep, especially in those with a history of past fracture. In addition, primary preventives especially home prevention should be emphasized.
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Fraturas Ósseas/epidemiologia , Estilo de Vida , Idoso , Povo Asiático , China/epidemiologia , Estudos Transversais , Fraturas Ósseas/etiologia , Comportamentos de Risco à Saúde , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Posterior fossa decompression without (PFD) or with duraplasty (PFDD) for the treatment of type 1 Chiari malformation (CM-1) is controversial. We thus performed a systematic review and meta-analysis of studies to assess the effect on clinical and imaging improvement, operative time, complications, and recurrence rate between PFD and PFDD in patients with CM-1. METHODS: We systematically searched PubMed, Embase, Cochrane, Web of Knowledge, and ClinicalTrials.gov for retrospective or prospective studies comparing PFD with PFDD. Our main end points were clinical and imaging improvement, operative time, complications, and recurrence rate. We assessed pooled data by use of a fixed-effects or random-effects model according to the between-study heterogeneity. RESULTS: Of 214 identified studies, 13 were eligible and were included in our analysis (N = 3481 patients). Compared with PFD, PFDD led to a mean greater increase in operative time than did PFD [standardized mean difference, -2.35; 95% confidence interval [CI], (-2.70 to -1.99)], a higher likelihood of clinical improvement in patients with syringomyelia (relative risk [RR], 0.70; 95% CI, 0.49-0.98), no increased RR of clinical improvement in patients without syringomyelia, no increased RR of imaging improvement, but an increased RR of cerebrospinal fluid-related complications (RR, 0.29; 95% CI, 0.15-0.58), cerebrospinal fluid leak, aseptic meningitis, pseudomeningocele, and a decreased likelihood of recurrence rate. CONCLUSIONS: PFDD can be an optimal surgical strategy because of its higher clinical improvement and lower recurrence rate in the patients with syringomyelia. In patients without syringomyelia, PFD can be a preferred choice because of its similar clinical improvement and lower costs. Future randomized studies with large numbers and the power to provide illumination for surgical decision making in CM-1 are warranted.
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Malformação de Arnold-Chiari/cirurgia , Fossa Craniana Posterior/cirurgia , Descompressão Cirúrgica/métodos , Dura-Máter/cirurgia , Malformação de Arnold-Chiari/complicações , Humanos , Recidiva , Siringomielia/complicações , Siringomielia/cirurgiaRESUMO
BACKGROUND: This study aims to quantitatively summarize risk factors associated with surgical site infection after open reduction and internal fixation of ankle fractures. METHODS: Relevant original studies were searched in Medline, Embase, China National Knowledge Infrastructure, Wanfang database and Cochrane central database (all through April 2018). Studies eligible had to meet the quality assessment criteria by Newcastle-Ottawa Scale and to evaluate the risk factors for surgical site infection after open reduction and internal fixation of ankle fractures. The Stata 11.0 was used to this meta-analysis. RESULTS: 10 studies involving 8103 cases of ankle fracture treated by open reduction and internal fixation and 583 cases of surgical site infection were included in this meta-analysis. The incidence of surgical site infection is 7.19%. Our meta-analysis identified the significant increased risk factors with surgical site infection after open reduction and internal fixation of ankle fractures (Pâ¯<â¯0.05) is: body mass index (both continuous and dichotomous variables); American Society of Anesthesiologists ≥3; diabetes; alcohol; open fracture; subluxation/dislocation; incision cleanness grade 2-4; high-energy mechanism; chronic heart disease; history of allergy; and use of antibiotic prophylaxis. After sensitivity analysis, meta-analysis results for these factors did not change the significance, indicating that the results were robust. CONCLUSION: Patients involved with the above-mentioned medical conditions were at risk for surgical site infection after open reduction and internal fixation of ankle fracture. The present study may in this respect serve as a baseline reference and this knowledge will allow the formulation of public health strategies to prevent surgical site infection after orthopedic surgery.
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Fraturas do Tornozelo/cirurgia , Fixação Interna de Fraturas/efeitos adversos , Redução Aberta/efeitos adversos , Infecção da Ferida Cirúrgica/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Infecção da Ferida Cirúrgica/epidemiologia , Adulto JovemRESUMO
BACKGROUND: This study aimed to quantitatively summarize the risk factors associated with surgical site infection after open reduction and internal fixation of tibial plateau fracture. METHODS: Medline, Embase, CNKI, Wanfang database and Cochrane central database were searched for relevant original studies from database inception to October 2016. Eligible studies had to meet quality assessment criteria according to the Newcastle-Ottawa Scale, and had to evaluate the risk factors for surgical site infection after open reduction and internal fixation of tibial plateau fracture. Stata 11.0 software was used for this meta-analysis. RESULTS: Eight studies involving 2214 cases of tibial plateau fracture treated by open reduction and internal fixation and 219 cases of surgical site infection were included in this meta-analysis. The following parameters were identified as significant risk factors for surgical site infection after open reduction and internal fixation of tibial plateau fracture (p < 0.05): open fracture (OR 3.78; 95% CI 2.71-5.27), compartment syndrome (OR 3.53; 95% CI 2.13-5.86), operative time (OR 2.15; 95% CI 1.53-3.02), tobacco use (OR 2.13; 95% CI 1.13-3.99), and external fixation (OR 2.07; 95% CI 1.05-4.09). Other factors, including male sex, were not identified as risk factors for surgical site infection. CONCLUSION: Patients with the abovementioned medical conditions are at risk of surgical site infection after open reduction and internal fixation of tibial plateau fracture. Surgeons should be cognizant of these risks and give relevant preoperative advice.
Assuntos
Fixação Interna de Fraturas/efeitos adversos , Fixação de Fratura/efeitos adversos , Fraturas Expostas/cirurgia , Infecção da Ferida Cirúrgica/etiologia , Fraturas da Tíbia/cirurgia , Adulto , Feminino , Humanos , Incidência , Masculino , Duração da Cirurgia , Fatores de Risco , Infecção da Ferida Cirúrgica/epidemiologiaRESUMO
Objective. To identify factors predicting the need for insulin therapy in pregnancies complicated by gestational diabetes mellitus (GDM). Methods. A total of 1352 patients with GDM diagnosed by the 75-g/2-h oral glucose tolerance test (OGTT) were enrolled in this study. Univariate and multivariate analysis were performed; receiver operating characteristics (ROC) were also drawn. Results. There was a significant difference in factors such as maternal age, pregestational BMI, first visit SBP, first visit DBP, FBG of first visit, FBG at time of OGTT, 75-g OGTT glucose value (fasting, after 1 h and 2 h), and serum HbA1c level at diagnosis between patients with insulin therapy and patients with medical nutrition therapy (MNT) alone. Multivariate analysis showed that higher FBG at time of OGTT, first 75 g OGTT 2 h plasma glucose, and HbA1c concentration at diagnosis lead to more likely need of insulin therapy. Conclusion. The probability of insulin therapy can be estimated in pregnant women with GDM based on fasting and 2 h glucose values during OGTT and HbA1c value at diagnosis of GDM.