Femoral neck fractures in osteogenesis imperfecta treated with bisphosphonates.
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ABSTRACT:
SUBMITTER: Papanna MC
PROVIDER: S-EPMC5548034 | biostudies-other | 2017 Jun
REPOSITORIES: biostudies-other
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Project description:Sequencing of a Fleckvieh animal for dominant Osteogensis imperfecta
| PRJEB12324 | ENA
Project description:Background and purposeLittle attention has been paid to undisplaced femoral neck fractures. By using data from the Norwegian Hip Fracture Register, we investigated the risk of reoperation and the clinical outcome after treatment of these fractures in patients over 60 years of age.MethodsData on 4,468 patients with undisplaced femoral neck fractures who were operated with screw osteosynthesis were compared to those from 10,289 patients with displaced femoral neck fractures treated with screw osteosynthesis (n = 3,389) or bipolar hemiarthroplasty (n = 6,900). The evaluation was based on number of reoperations and patient assessment at 4 and 12 months of follow-up.ResultsThe 1-year implant survival was 89% after screw fixation for undisplaced fractures, 79% after screw fixation for displaced fractures, and 97% after hemiarthroplasty for displaced fractures. Patients with displaced fractures who were operated with internal fixation had a higher risk of reoperation (RR = 1.9, CI: 1.7-2.2), reported more pain, were less satisfied, and had lower quality of life than patients with undisplaced fractures treated with internal fixation (p < 0.05). Patients with displaced fractures who were operated with hemiarthroplasty had a lower risk of reoperation than patients with undisplaced fractures who were operated with internal fixation (RR = 0.32, CI: 0.27-0.38). Furthermore, they had the lowest degree of pain, were most satisfied, and reported the highest quality of life.InterpretationThe differences in clinical outcome found were less than what is considered to be of clinical importance. The results support the use of screw osteosynthesis for undisplaced femoral neck fractures in elderly patients, although even better results were obtained in the hemiarthroplasty group in patients with displaced fractures.
| S-EPMC3235303 | biostudies-literature
Project description:ObjectiveTo investigate the effects of postoperative femoral neck shortening in patients with femoral neck fractures fixed with femoral neck system screws (FNS) and to explore the factors influencing femoral neck shortening.MethodTo retrospectively analyze the data of 113 patients with femoral neck fractures admitted to the Second Hospital of Fuzhou City, affiliated with Xiamen University, between December 2019 and January 2022. Of these, 87 patients were followed up for more than 12 months, 49 men and 38 women: 36 cases of Garden I and II fractures and 51 cases of Garden III and IV fractures, to record the patient's hip Harris score at 12 months postoperatively. Patients were divided into femoral neck shortening group and femoral neck no shortening group according to their regular postoperative follow-up radiographic measurements. To count the incidence of femoral neck shortening, a comparison of postoperative complication rates and hip Harris scores between the two groups was made. Statistical comparison of the two groups and a multifactorial logistic regression analysis were also performed to analyze the factors affecting femoral neck shortening.ResultsAll 87 patients were followed up for more than 12 months after surgery. In 34 of these cases, neck shortening occurred, and the incidence rate was 39.1%. 15 cases of severe shortening, incidence of 17.2%; fracture healing 84 cases, fracture healing rate of 96.5%. The hip Harris score was 83.99 (81.95, 89.20) in the neck shortening group at 12 months postoperatively, 90.87 (87.95, 94.80) for the group without neck shortening; the difference between the two groups was statistically significant (P < 0.01). 32 cases of fracture healing in the neck shortening group at 12 months after surgery, fracture healing rate of 94.1%; 52 cases healed without neck shortening group, fracture healing rate of 98.1%. The difference between the two groups was not statistically significant (P = 0.337). High incidence of neck shortening after FNS fixation of femoral neck fractures, cortical comminution of the severed end, fracture fractionation and quality of reduction were significantly correlated with neck shortening.ConclusionHigh incidence of postoperative neck shortening after internal fixation of femoral neck fractures with the femoral neck system, the cortical comminution, the type of fracture, and the quality of fracture reduction are the influencing factors; femoral neck shortening can affect postoperative hip function, but does not affect fracture healing.
| S-EPMC10127061 | biostudies-literature
Project description:Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years discoveries of novel (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology and have contributed to an improved understanding of normal bone development. Defects in proteins with very different functions, ranging from structural to enzymatic and from intracellular transport to chaperones, have been described in patients with osteogenesis imperfecta. Knowledge of the specific molecular basis of each form of the disorder will advance clinical diagnosis and potentially stimulate targeted therapeutic approaches. In this Seminar, together with diagnosis, management, and treatment, we describe the defects causing osteogenesis imperfecta and their mechanism and interrelations, and classify them into five groups on the basis of the metabolic pathway compromised, specifically those related to collagen synthesis, structure, and processing; post-translational modification; folding and cross-linking; mineralisation; and osteoblast differentiation.
| S-EPMC7384887 | biostudies-literature
Project description:Background and purpose - Displaced femoral neck fractures (FNFs) are associated with high rates of mortality during the first postoperative year. The Sernbo score (based on age, habitat, mobility, and mental state) can be used to stratify patients into groups with different 1-year mortality. We assessed this predictive ability in patients with a displaced FNF treated with a hemiarthroplasty or a total hip arthroplasty. Patients and methods - 292 patients (median age 83 (65-99) years, 68% female) with a displaced FNF were included in this prospective cohort study. To predict 1-year mortality, we used a multivariate logistic regression analysis including comorbidities and perioperative management. A receiver operating characteristic (ROC) analysis was used to evaluate the predictive ability of the Sernbo score, which was subsequently divided in a new manner into a low, intermediate, or high risk of death during the first year. Results - At 1-year follow-up, the overall mortality rate was 24%, and in Sernbo's low-, intermediate-, and high-risk groups it was 5%, 22%, and 51%, respectively. The Sernbo score was the only statistically significant predictor of 1-year mortality: odds ratio for the intermediate-risk group was 4.2 (95% Cl: 1.5-12) and for the high-risk group it was 15 (95% CI: 5-40). The ROC analysis showed a fair predictive ability of the Sernbo score, with an area under the curve (AUC) of 0.79 (95% CI: 0.73-0.83). Using a cutoff of less than 11 points on the score gave a sensitivity of 61% and a specificity of 83%. Interpretation - The Sernbo score identifies patients who are at high risk of dying in the first postoperative year. This scoring system could be used to better tailor perioperative care and treatment in patients with displaced FNF.
| S-EPMC5499331 | biostudies-literature
Project description:Background:Several studies have reported hip geometry to predict the femoral neck fractures. However, they showed inconsistency. Objectives:To determine the association between hip geometry and femoral neck fractures. Methods:Published literature from PubMed and Embase databases (until May 25th, 2017) was searched for eligible publications. The information related to (1) name of first author; (2) year of publication; (3) country of origin; (4) sample size of cases and controls and (5) mean and standard deviation of cases and controls were extracted. The pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) for the association between hip geometry and femoral neck fractures were assessed using random or fixed effect model. A Comprehensive Meta-analysis software, version 2.0, was used to analyse the data. Results:A total of 11 studies were included in this study. Our results showed that increase in hip axis length (OR 95% CI = 1.53 [1.06-2.21], p = 0.025), femoral neck angle (OR 95% CI = 1.47 [1.01-2.15], p = 0.044) and neck width (OR 95% CI = 2.68 [1.84-3.91], p < 0.001) was associated with the risk of femoral neck fractures, whereas we could not find the correlation between femoral neck axis length and the risk of femoral neck fractures. Conclusion:There is strong evidence that elevated hip axis length, femoral neck angle and neck width are the risk factor for femoral neck fractures.The Translational Potential of this Article: Determining the hip axis length, femoral neck angle and neck width that are most highly associated with femoral neck fracture may allow clinicians to more accurately predict which individuals are likely to experience femoral neck fractures in the future.
| S-EPMC5892388 | biostudies-literature
Project description:BackgroundWe performed a meta-analysis to compare the efficacy and safety of the femoral neck system (FNS) with cannulated cancellous screws (CCSs) in treating femoral neck fractures (FNFs) in controlled clinical trials.MethodsEligible scientific articles published prior to September 2021 were retrieved from the PubMed, Web of Science, Springer, ScienceDirect and Cochrane Library databases. The statistical analysis was performed with RevMan 5.1.ResultsSeven retrospective studies met the inclusion criteria. Meta-analysis showed that there were significant differences in perioperative blood loss, the postoperative Harris score, healing time, fluoroscopy frequency, total complications, femoral head necrosis, femoral neck shortening and screw cutout. No significant differences were found regarding operation time, length of hospital stay or nonunion between the two groups.ConclusionCompared with CCSs, the FNS showed better clinical efficacy and fewer complications in treating FNFs. Due to the limited quality and data of the currently available evidence, more high-quality randomized controlled trials are needed.
| S-EPMC9272162 | biostudies-literature
Project description:Osteoporosis is the consequence of altered bone metabolism resulting in the systemic reduction of bone strength and increased risk of fragility fractures. MicroRNAs (miRNAs) regulate gene expression on a post-transcriptional level are known to take part in the control of bone formation and bone resorption. Recently, targeted secretion of miRNAs from cells originating from various tissues has been described, which allows for their minimal-invasive detection in serum/plasma and use as biomarkers for presence and progression of pathological conditions. One pilot study has reported circulating miRNAs in serum and tissue of fracture patients. However, further studies are required to explore whether a dysbalance in bone homeostasis of fracture patients can reliably be reflected by specific circulating miRNAs, and whether these miRNAs might serve as drugable targets. Here, we report results from a comprehensive multiplex study of 175 miRNAs in serum samples obtained from 7 patients with osteoporotic fractures at the femoral neck, and 7 age-matched controls. Following elaborate quality control statistical analysis of this exploratory dataset identified 9 microRNAs with altered serum levels in response to fracture (adjusted p-value < 0.1). Of these, hsa-miR-10a/b gave excellent discrimination of both groups (AUC = 1.0), and clustering of samples based on the top10 miRNAs confirmed the high discriminatory power of circulating microRNAs for osteoporotic fractures. In the next step 3 miRNAs with unknown roles in osteogenic differentiation and 4 miRNA from a previous study were tested for their effects on osteogenic differentiation. Of these, 3 miRNAs showed robust effects on osteogenic differentiation. Overall, these data provide important insights into changes in serum miRNA in post-traumatic patients. Future studies will show, whether this knowledge can be used to improve current diagnostic methodologies to predict fracture risk and design novel treatment strategies for osteoporosis patients.
2015-06-26 | GSE60230 | GEO
Project description:Introduction:Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by mutations of the CYP27A1 gene and deficiency of the sterol-27-hydroxylase enzyme in bile acid biosynthesis. It is characterized by the accumulation of cholestanol and bile alcohols in plasma, the formation of xanthomatous lesions in various tissues, and organ degeneration. This disorder is also associated with osteoporosis and increased risk of fracture. To date, only two CTX patients with femoral neck fractures have been reported. Neither was treated by arthroplasties, and the operative outcomes are lacking. Case Report:We report the case of a 46-year-old Thai female who presented with consecutive bilateral femoral neck fractures following minor trauma within a 3-year period and received cementless bipolar hemiarthroplasties. Her phenotypic expression included Achilles tendon masses, childhood-onset cataracts, intellectual disability, and cerebellar ataxia. A brain computed tomography showed non-enhancing hypodense lesions in the bilateral cerebellar hemispheres with mild brain atrophy. Histopathology from an Achilles tendon biopsy revealed tendinous xanthoma and molecular analysis confirmed a homozygous nonsense mutation, c.1072C>T (p.Gln358Ter), in exon 6 of the CYP27A1 gene. The intra-operative crack of a calcar femorale was a major complication during both prosthetic insertion surgeries and warranted cerclage wiring. At the 7-month follow-up of the right hip and the 41-month follow-up of the left hip, postoperative radiographs showed well-fixed and well-aligned prostheses. Independent household ambulation could be resumed with Harris hip scores of 81 points equally. Conclusion:CTX is associated with osteoporosis, and middle-aged patients could present with femoral neck fracture following minor trauma. Cementless bipolar hemiarthroplasty for a totally displaced fracture is justified for a patient who has cognitive impairment. Intra-operative fracture is a major complication during prosthetic insertion and warrants cerclage wiring to achieve predictable bone healing and a satisfactory result.
| S-EPMC5728000 | biostudies-literature
Project description:Osteoporosis is the consequence of altered bone metabolism resulting in the systemic reduction of bone strength and increased risk of fragility fractures. MicroRNAs (miRNAs) regulate gene expression on a post-transcriptional level are known to take part in the control of bone formation and bone resorption. Recently, targeted secretion of miRNAs from cells originating from various tissues has been described, which allows for their minimal-invasive detection in serum/plasma and use as biomarkers for presence and progression of pathological conditions. One pilot study has reported circulating miRNAs in serum and tissue of fracture patients. However, further studies are required to explore whether a dysbalance in bone homeostasis of fracture patients can reliably be reflected by specific circulating miRNAs, and whether these miRNAs might serve as drugable targets. Here, we report results from a comprehensive multiplex study of 175 miRNAs in serum samples obtained from 7 patients with osteoporotic fractures at the femoral neck, and 7 age-matched controls. Following elaborate quality control statistical analysis of this exploratory dataset identified 9 microRNAs with altered serum levels in response to fracture (adjusted p-value < 0.1). Of these, hsa-miR-10a/b gave excellent discrimination of both groups (AUC = 1.0), and clustering of samples based on the top10 miRNAs confirmed the high discriminatory power of circulating microRNAs for osteoporotic fractures. In the next step 3 miRNAs with unknown roles in osteogenic differentiation and 4 miRNA from a previous study were tested for their effects on osteogenic differentiation. Of these, 3 miRNAs showed robust effects on osteogenic differentiation. Overall, these data provide important insights into changes in serum miRNA in post-traumatic patients. Future studies will show, whether this knowledge can be used to improve current diagnostic methodologies to predict fracture risk and design novel treatment strategies for osteoporosis patients. Two groups with n=7 per group; one groups represents cases with osteoporotic fractures, the control group is age-matched without fractures
2015-06-26 | E-GEOD-60230 | biostudies-arrayexpress