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Current Osteoporosis Reports Oct 2021Fractures are frequently encountered in paediatric practice. Although recurrent fractures in children usually unveil a monogenic syndrome, paediatric fracture risk could... (Review)
Review
PURPOSE OF REVIEW
Fractures are frequently encountered in paediatric practice. Although recurrent fractures in children usually unveil a monogenic syndrome, paediatric fracture risk could be shaped by the individual genetic background influencing the acquisition of bone mineral density, and therefore, the skeletal fragility as shown in adults. Here, we examine paediatric fractures from the perspective of monogenic and complex trait genetics.
RECENT FINDINGS
Large-scale genome-wide studies in children have identified ~44 genetic loci associated with fracture or bone traits whereas ~35 monogenic diseases characterized by paediatric fractures have been described. Genetic variation can predispose to paediatric fractures through monogenic risk variants with a large effect and polygenic risk involving many variants of small effects. Studying genetic factors influencing peak bone attainment might help in identifying individuals at higher risk of developing early-onset osteoporosis and discovering drug targets to be used as bone restorative pharmacotherapies to prevent, or even reverse, bone loss later in life.
Topics: Age Factors; Bone Density; Child; Fractures, Bone; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Multifactorial Inheritance; Osteoporosis; Phenotype
PubMed: 33945105
DOI: 10.1007/s11914-021-00680-0 -
Osteoporosis International : a Journal... Aug 2018The present study, drawn from a sample of the Icelandic population, quantified high immediate risk and utility loss of subsequent fracture after a sentinel fracture (at...
UNLABELLED
The present study, drawn from a sample of the Icelandic population, quantified high immediate risk and utility loss of subsequent fracture after a sentinel fracture (at the hip, spine, distal forearm and humerus) that attenuated with time.
INTRODUCTION
The risk of a subsequent osteoporotic fracture is particularly acute immediately after an index fracture and wanes progressively with time. The aim of this study was to quantify the risk and utility consequences of subsequent fracture after a sentinel fracture (at the hip, spine, distal forearm and humerus) with an emphasis on the time course of recurrent fracture.
METHODS
The Reykjavik Study fracture registration, drawn from a sample of the Icelandic population (n = 18,872), recorded all fractures of the participants from their entry into the study until December 31, 2012. Medical records for the participants were manually examined and verified. First sentinel fractures were identified. Subsequent fractures, deaths, 10-year probability of fracture and cumulative disutility using multipliers derived from the International Costs and Utilities Related to Osteoporotic fractures Study (ICUROS) were examined as a function of time after fracture, age and sex.
RESULTS
Over 10 years, subsequent fractures were sustained in 28% of 1498 individuals with a sentinel hip fracture. For other sentinel fractures, the proportion ranged from 35 to 38%. After each sentinel fracture, the risk of subsequent fracture was highest in the immediate post fracture interval and decreased markedly with time. Thus, amongst individuals who sustained a recurrent fracture, 31-45% did so within 1 year of the sentinel fracture. Hazard ratios for fracture recurrence (population relative risks) were accordingly highest immediately after the sentinel fracture (2.6-5.3, depending on the site of fracture) and fell progressively over 10 years (1.5-2.2). Population relative risks also decreased progressively with age. The utility loss during the first 10 years after a sentinel fracture varied by age (less with age) and sex (greater in women). In women at the age of 70 years, the mean utility loss due to fractures in the whole cohort was 0.081 whereas this was 12-fold greater in women with a sentinel hip fracture, and was increased 15-fold for spine fracture, 4-fold for forearm fracture and 8-fold for humeral fracture.
CONCLUSION
High fracture risks and utility loss immediately after fracture suggest that treatment given as soon as possible after fracture would avoid a higher number of new fractures compared with treatment given later. This provides the rationale for very early intervention immediately after a sentinel fracture.
Topics: Adult; Age Distribution; Age Factors; Aged; Aged, 80 and over; Female; Forearm Injuries; Hip Fractures; Humans; Humeral Fractures; Iceland; Male; Middle Aged; Osteoporotic Fractures; Recurrence; Registries; Risk Assessment; Sex Distribution; Spinal Fractures; Time Factors
PubMed: 29947869
DOI: 10.1007/s00198-018-4502-0 -
Progress in Transplantation (Aliso... Mar 2023Kidney transplantation is associated with increased risk of bone fracture. Current literature reports widely variable fracture burden and contains limited data on risk...
Kidney transplantation is associated with increased risk of bone fracture. Current literature reports widely variable fracture burden and contains limited data on risk factors for recurrent fractures. The incidence of all and major osteoporotic fractures (hip, forearm, thoracolumbar, and proximal humerus) were assessed. The risk factors for first and recurrent fractures among 1285 Canadian kidney transplant recipients transplanted between January 1, 2004, and December 31, 2013 were also identified. The 10-year cumulative incidence of all fractures and major osteoporotic fractures in this population was 27.1% (95% CI: 22.5, 32.4) and 17.8% (95% CI: 13.4, 23.5), respectively. On multivariable analysis, female sex (HR = 1.64 [95% CI: 1.20, 2.26]), history of fracture (HR = 1.54 [95% CI: 1.12, 2.11]), and pretransplant diabetes (HR = 1.85 [95% CI: 1.29, 2.65]) were recipient factors found to increase the risk for any first fracture posttransplant. These risk factors persist in analysis with the time origin 3-months posttransplant, where transplant age (HR = 1.01 [95% CI: 1.00, 1.03]) and increased time on pretransplant dialysis (HR = 1.06 [95% CI: 1.00, 1.12]) also emerge as risk factors for first fracture. On multivariable shared frailty model analysis, increased risk of recurrent fractures was associated with recipient female sex (HR = 1.74 [95% CI: 1.21, 2.51]) and history of diabetes (HR = 1.76 [95% CI: 1.17, 2.66]). The results suggested that some risk factors for first fracture may not inform risk of recurrent fractures. As such, fracture risk should be assessed accordingly to optimize long-term care and implement preventive measures.
Topics: Humans; Female; Osteoporotic Fractures; Kidney Transplantation; Renal Dialysis; Canada; Risk Factors; Incidence
PubMed: 36514897
DOI: 10.1177/15269248221145034 -
BMC Women's Health Nov 2022As postmenopausal osteoporotic fractures can cause higher rates of disability and mortality in women; it is essential to analyze the factors associated with primary and...
BACKGROUND
As postmenopausal osteoporotic fractures can cause higher rates of disability and mortality in women; it is essential to analyze the factors associated with primary and recurrent fractures in postmenopausal osteoporosis (PMOP) patients.
METHODS
Retrospective analysis of 2478 PMOP patients aged ≥ 50 years who attended the Shanghai General Hospital from January 2007 to December 2016, including 1239 patients with no fractures and 1239 patients with histories of fractures (1008 in the primary fracture group and 231 in the re-fracture group). All patients' basic clinical data, serum biochemical and bone metabolic markers, bone mineral density (BMD), and other indicators were recorded uniformly. Comparing the differences between the clinical characteristics of patients with primary and recurrent fractures, as well as the differences in the clinical characteristics of patients with primary and recurrent fractures in combination with different diseases, further analyses the risk factors for primary and recurrent fractures in PMOP patients. SPSS.26 was used for statistical analysis.
RESULTS
Compared to the unfractured group, the fractured group was older and had lower height and bone mineral density (all P < 0.01), with the re-fractured group having lower BMD at each key site than the primary fracture group (all P < 0.01). Analysis of the combined disease subgroups showed that serum BGP levels were lower in the primary and re-fracture patients with diabetes than in the non-diabetic subgroup (P < 0.05), and serum CTX levels were lower in the re-fracture group with diabetes than in the primary fracture group with diabetes (P < 0.05). Patients with recurrent fractures with cardio-vascular diseases had lower BMD than the subgroup without cardio-vascular diseases (P < 0.05) and also had lower BMD than the group with primary fractures with cardio-vascular diseases (P < 0.05). Multiple logistic regression analysis showed that advanced age, overweight, low lumbar spine and total hip BMD were risk factors for primary and recurrent fractures; and comorbid chronic liver and kidney diseases were risk factors for primary fractures.
CONCLUSION
PMOP patients with advanced age, overweight, low bone mineral density, and comorbid chronic liver and kidney diseases are at greater risk of fractures and require early intervention to reduce fractures occurrence. Moreover, those who are elderly, overweight, and have low bone density should also be aware of the risk of re-fractures.
Topics: Aged; Humans; Female; Retrospective Studies; Postmenopause; Overweight; China; Osteoporosis, Postmenopausal; Osteoporotic Fractures; Risk Factors; Vascular Diseases
PubMed: 36404305
DOI: 10.1186/s12905-022-02034-z -
European Journal of Trauma and... Apr 2022The aim of this study was to retrospectively review the midface and orbital floor fractures treated at our institution with regard to epidemiological aspects, surgical...
OBJECTIVE
The aim of this study was to retrospectively review the midface and orbital floor fractures treated at our institution with regard to epidemiological aspects, surgical treatment options and postoperative complications and discuss this data with the current literature.
STUDY DESIGN
One thousand five hundred and ninety-four patients with midface and orbital fractures treated at the Department of Oral, Cranio-Maxillofacial and Facial Plastic Surgery of the Goethe University Hospital in Frankfurt (Germany) between 2007 and 2017 were retrospectively reviewed. The patients were evaluated by age, gender, etiology, fracture pattern, defect size, surgical treatment and complications.
RESULTS
The average patient age was 46.2 (± 20.8). Most fractures (37.5%) occurred in the age between 16 and 35. Seventy-two percent of patients were male while 28% were female. The most common cause of injury was physical assault (32.0%) followed by falls (30.8%) and traffic accidents (17.0%). The average orbital wall defect size was 297.9 mm (± 190.8 mm2). For orbital floor reconstruction polydioxanone sheets (0.15 mm 38.3%, 0.25 mm 36.2%, 0.5 mm 2.8%) were mainly used, followed by titanium meshes (11.5%). Reconstructions with the 0.15 mm polydioxanone sheets showed the least complications (p < 0.01, r = 0.15). Eighteen percent of patients who showed persistent symptoms and post-operative complications: 12.9% suffered from persistent hypoesthesia, 4.4% suffered from post-operative diplopia and 3.9% showed intra-orbital hematoma.
CONCLUSION
Results of the clinical outcome in our patients show that 0.15 mm resorbable polydioxanone sheets leads to significantly less post-operative complications for orbital floor defects even for defects beyond the recommended 200 mm.
Topics: Adolescent; Adult; Diplopia; Female; Fractures, Multiple; Humans; Male; Orbital Fractures; Polydioxanone; Postoperative Complications; Plastic Surgery Procedures; Retrospective Studies; Treatment Outcome; Young Adult
PubMed: 34128084
DOI: 10.1007/s00068-021-01716-x -
Medicine Jul 2022We aimed to investigate the incidence, characteristics, and treatments of open fractures in children and adolescents (≤18 years old). We retrospectively reviewed the... (Observational Study)
Observational Study
We aimed to investigate the incidence, characteristics, and treatments of open fractures in children and adolescents (≤18 years old). We retrospectively reviewed the records of 2418 children and adolescents who presented with traumatic fractures and were admitted to our university-affiliated hospitals, among which 206 patients (8.5%) presented with open fractures. The patients' clinical and radiographic records were reviewed, and the age, gender, cause of injury, injury season, injury week, associated injuries and complications were collected. This study enrolled 1789 males (74.0%) and 629 females (26.0%) with an average age of 11.2 ± 5.0 years. The patients were divided into an open fracture group (OF group, n = 206) and a group with no open fracture (No-OF group, n = 2212). There were 206 patients (8.5%) who presented with open fractures and the most common fracture sites were the tibia (31.1%, 64/206) and fibula (20.9%, 43/206). The patients in the OF group presented with higher frequency of emergency admission (P < 0.001), self-supporting medical insurance (P < 0.001), MVCs (P < 0.001), wounded by machine (P < 0.001), struck by object (P < 0.001), hurt/cut by others (P < 0.001), lower limb fractures (P < 0.001), multiple fractures (P = 0.010), associated injuries (P < 0.001) and wound infection (P = 0.003) then the patients in the No-OF group. The most common complication were wound infection (5.8%) and pneumonia (1.0%) in the OF group, wound infection (2.1%) and pressure sores (2.0%) in the No- OF group. Multivariate logistic regression analysis indicated that mechanical trauma (OR = 64.229, P < 0.001), being hurt/cut by others (OR = 26.757, P < 0.001), and being struck by an object (OR = 15.345, P < 0.001) were stronger risk factors for open fracture than were low falls; additionally, lower limb fractures (OR = 5.970, P < 0.001), upper limb fractures (OR = 5.865, P < 0.001) and multiple fractures (OR = 5.414, P < 0.001) were stronger risk factors than craniofacial fractures for open fractures. The frequency of surgical treatment for the patients with traumatic open fractures (87.9%, 181/206) was significantly higher than those without open fractures (72.2%, 1596/2212) (P < 0.001). The hospital stays and fees for surgical treatment for the patients with traumatic open fractures were significantly higher than those without open fractures (P < 0.001). Etiology (especially being injured by a machine or being hurt/cut by others) and the fracture site (including lower limb fractures and upper limb fractures) were independent risk factors for open fractures. Traumatic open fractures presented with higher surgical treatment rate, hospital stays and fees.
Topics: Adolescent; Child; Female; Fractures, Multiple; Fractures, Open; Humans; Incidence; Male; Retrospective Studies; Wound Infection
PubMed: 35777018
DOI: 10.1097/MD.0000000000029828 -
World Journal of Clinical Cases Apr 2023Osteogenesis imperfecta (OI) is a genetically heterogeneous monogenic disease characterized by decreased bone mass, bone fragility, and recurrent fractures. The... (Review)
Review
Osteogenesis imperfecta (OI) is a genetically heterogeneous monogenic disease characterized by decreased bone mass, bone fragility, and recurrent fractures. The phenotypic spectrum varies considerably ranging from prenatal fractures with lethal outcomes to mild forms with few fractures and normal stature. The basic mechanism is a collagen-related defect, not only in synthesis but also in folding, processing, bone mineralization, or osteoblast function. In recent years, great progress has been made in identifying new genes and molecular mechanisms underlying OI. In this context, the classification of OI has been revised several times and different types are used. The Sillence classification, based on clinical and radiological characteristics, is currently used as a grading of clinical severity. Based on the metabolic pathway, the functional classification allows identifying regulatory elements and targeting specific therapeutic approaches. Genetic classification has the advantage of identifying the inheritance pattern, an essential element for genetic counseling and prophylaxis. Although genotype-phenotype correlations may sometimes be challenging, genetic diagnosis allows a personalized management strategy, accurate family planning, and pregnancy management decisions including options for mode of delivery, or early antenatal OI treatment. Future research on molecular pathways and pathogenic variants involved could lead to the development of genotype-based therapeutic approaches. This narrative review summarizes our current understanding of genes, molecular mechanisms involved in OI, classifications, and their utility in prophylaxis.
PubMed: 37214584
DOI: 10.12998/wjcc.v11.i12.2604 -
Clinical Orthopaedics and Related... Mar 2011Osseous injuries are a major facet of child abuse and in most patients radiographic imaging plays a major role in diagnosis. While some injuries are typically produced... (Review)
Review
BACKGROUND
Osseous injuries are a major facet of child abuse and in most patients radiographic imaging plays a major role in diagnosis. While some injuries are typically produced as a result of excessive and inappropriate force other injuries are nonspecific in terms of their causation, but become suspicious when the history provided by the caretakers is inconsistent with the type of injury produced.
QUESTIONS/PURPOSES
I detail the radiographic imaging of the more characteristic of the highly specific injuries, discuss the major issues that relate to some moderate- or low-specificity injuries, and describe several diseases that mimic abuse.
METHODS
A review of the current and recent literature focused on the radiographic imaging of child abuse was performed by searching the National Library of Medicine database at pubmed.gov. Keywords used included: radiology, fracture, child abuse, and/or nonaccidental trauma.
RESULTS
Injuries that are highly specific for the diagnosis of abuse include metaphyseal corner fractures, posteromedial rib fractures, and sternal, scapular, and spinous process fractures. Lesions of moderate specificity include, among other injuries, multiple fractures of various ages and epiphyseal separations. Long-bone fractures and clavicular fractures, while common, are of low specificity. In addition to the appropriate accurate diagnosis of these injuries, several diseases and syndromes may mimic abuse due to the similarity in the radiographic picture.
CONCLUSIONS
Stratification of fractures sustained in child abuse according to specificity and an understanding of the several diseases that mimic abuse are helpful in the accurate diagnosis of child abuse.
LEVEL OF EVIDENCE
Level V, diagnostic study. See Guidelines for Authors for a complete description of levels of evidence.
Topics: Child; Child Abuse; Child, Preschool; Crime Victims; Diagnosis, Differential; Fractures, Bone; Humans; Infant; Osteogenesis Imperfecta; Pain Insensitivity, Congenital; Predictive Value of Tests; Radiography; Rickets
PubMed: 20544318
DOI: 10.1007/s11999-010-1414-5 -
RMD Open 2015For the prevention of fractures, antiresorptive drugs (bisphosphonates and denosumab) that decrease high bone resorption and, secondarily, also bone formation, are the... (Review)
Review
For the prevention of fractures, antiresorptive drugs (bisphosphonates and denosumab) that decrease high bone resorption and, secondarily, also bone formation, are the mainstream of therapy. Osteoanabolic drugs, such as teriparatide, increase bone formation more than bone resorption, and are used in severe osteoporosis, including patients treated with antiresorptive drugs who still lose bone and have recurrent fractures. New potential drugs for fracture prevention that uncouple bone resorption from bone formation include odanacatib, a specific inhibitor of cathepsin-K, the enzyme that degrades bone collagen type I, that inhibits bone resorption and only temporarily bone formation, and monoclonal antibodies against sclerostin (romosozumab, blosozumab), that stimulate bone formation and decrease bone resorption.
PubMed: 26557374
DOI: 10.1136/rmdopen-2015-000051 -
Clinical Cases in Mineral and Bone... 2017Hypophosphatasia (HPP) is a rare inherited disease with a heterogeneous clinical expression. The adult form of HPP is often difficult to be recognized with a delayed... (Review)
Review
Hypophosphatasia (HPP) is a rare inherited disease with a heterogeneous clinical expression. The adult form of HPP is often difficult to be recognized with a delayed diagnosis and inappropriate treatments. Though severity of HPP decreases with age at onset, important complications could occur at any age and the burden of HPP among adult patients is found to be significant. Adult patients with HPP suffer of chronic pain, recurrent fractures and other orthopedics problems, with severe disability that have a serious negative impact on all aspects of their life. The aim of this paper is to summarize the main aspects of HPP in adult patients reviewing the literature and focusing on its burden for patients suffering from this condition.
PubMed: 29263739
DOI: 10.11138/ccmbm/2017.14.1.230