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Cureus Apr 2023Bone disease and bone loss are common features in certain monogenic diseases such as RASopathies, including neurofibromatosis (NF). Similarly, bone complications are...
Bone disease and bone loss are common features in certain monogenic diseases such as RASopathies, including neurofibromatosis (NF). Similarly, bone complications are frequent in hemoglobinopathies, another group of Mendelian diseases. This paper reports a young patient with both NF and hemoglobin SC (HbSC) diseases who had multiple vertebral fractures with osteopenia. We also discuss the cellular and pathophysiological mechanisms underlying both diseases and the factors responsible for bone pain and low bone mass in NF and hemoglobinopathies such as HbSC. This case emphasizes the importance of careful evaluation and management of osteoporosis in patients with HbSC and NF1, as both are relatively common monogenic diseases in certain communities.
PubMed: 37223189
DOI: 10.7759/cureus.37868 -
Clinical Cases in Mineral and Bone... 2015Rett syndrome is a common X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. Patients with Rett syndrome have a low bone mineral density and...
Rett syndrome is a common X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. Patients with Rett syndrome have a low bone mineral density and increased risk of fracture. The present case report describes a successful novel therapeutic intervention with teriparatide with one patient with Rett syndrome, after suffering from recurrent low-trauma fractures at intervals of several years. Because of the severity of bone involvement, the decision was made to treat with teriparatide and subsequently with intravenous bisphosphonate. Since the initiation of the treatment, there was an evident improvement at densitometric and QUS parameters. Furthermore, until the present, no new fractures have appeared. This is the first report in which teriparatide was administered to a subjects with Rett syndrome. In conclusion, this report has shown the effectiveness of teriparatide in the management of osteoporotic fractures in one subjects with Rett syndrome. This report provides evidence that increased knowledge of bone pathology and fracture prevention in Rett subjects is important and should be addressed in future studies.
PubMed: 26811706
DOI: 10.11138/ccmbm/2015.12.3.253 -
Clinical Chemistry Dec 2019
Topics: Fractures, Multiple; Humans; Infant, Newborn; Jaundice
PubMed: 31776160
DOI: 10.1373/clinchem.2019.304576 -
Minerva Stomatologica Feb 2016Multiple mandibular comminuted fractures usually occur in high energy traumas. The authors describe the management and treatment of multiple mandibular fractures in a... (Review)
Review
Multiple mandibular comminuted fractures usually occur in high energy traumas. The authors describe the management and treatment of multiple mandibular fractures in a young patient after a suicide attempt.
Topics: Antibiotic Prophylaxis; Biomechanical Phenomena; Bone Plates; Equipment Design; Facial Injuries; Female; Fracture Fixation, Internal; Fracture Healing; Fractures, Comminuted; Fractures, Multiple; Humans; Imaging, Three-Dimensional; Malocclusion; Mandibular Fractures; Multiple Trauma; Suicide, Attempted; Tomography, X-Ray Computed; Young Adult
PubMed: 26862697
DOI: No ID Found -
Archives of Internal Medicine Nov 2008Wrist fractures are the most prevalent type of fracture occurring in postmenopausal women. We sought to contrast the probability of recurrent osteoporotic fractures...
10-year probability of recurrent fractures following wrist and other osteoporotic fractures in a large clinical cohort: an analysis from the Manitoba Bone Density Program.
BACKGROUND
Wrist fractures are the most prevalent type of fracture occurring in postmenopausal women. We sought to contrast the probability of recurrent osteoporotic fractures after a primary wrist fracture with other important primary fracture sites.
METHODS
A historical cohort study comprising 21,432 women 45 years or older referred for bone mineral density (BMD) testing. Longitudinal health service records were assessed for the presence of fracture codes before and after BMD testing (359,737 person-years of observation).
RESULTS
A total of 2652 women (12.4%) experienced a primary fracture (wrist, vertebra, humerus, hip) prior to BMD testing, of which wrist fractures were the largest single group (1225 [46.2%]). The adjusted hazard ratio (HR) for recurrent osteoporotic fracture following a primary wrist fracture (HR, 1.58; 95% confidence interval [CI], 1.29-1.93) was lower than for other primary fractures (HR, 2.66; 95% CI, 2.30-3.08). Primary wrist fractures were not significantly associated with subsequent hip fractures (adjusted HR, 1.29; 95% CI, 0.88-1.89), whereas other primary fracture sites were individually and collectively significant predictors of future hip fractures (HR, 1.72; 95% CI, 1.31-2.26). The 10-year probability of any recurrent fracture after a primary wrist fracture was 14.2% (95% CI, 11.9%-16.5%), which was significantly less than for other primary fractures (spine, 25.7%; hip, 24.9%; humerus, 23.7%; P < .001 for all comparisons vs wrist) but greater than in those without prior fractures (10.8%; P < .001). The relationship between BMD and fracture risk was much stronger after a primary wrist fracture (HR, 2.20 per standard deviation; 95% CI, 1.70-2.80) than after other primary osteoporotic fractures (HR, 1.21; 95% CI, 1.05-1.40), reflecting the dominance of the other fracture information over BMD.
CONCLUSIONS
Wrist fractures are the most common of the clinical osteoporotic fractures in patients referred for BMD testing. However, the risk of recurrent fractures in the 10 years following a wrist fracture is substantially lower than that following other osteoporotic fractures, although it remains significantly higher than for those who have yet to experience a fracture.
Topics: Bone Density; Female; Fractures, Spontaneous; Hip Fractures; Humans; Humeral Fractures; Middle Aged; Osteoporosis; Probability; Recurrence; Wrist Injuries
PubMed: 19001204
DOI: 10.1001/archinte.168.20.2261 -
Ugeskrift For Laeger Apr 2024Non-traumatic fractures due to seizures are an overlooked diagnostic group. It is well known that patients with generalized tonic-clonic seizures have an increased...
Non-traumatic fractures due to seizures are an overlooked diagnostic group. It is well known that patients with generalized tonic-clonic seizures have an increased trauma risk. However, the cause of fracture is rarely due to the violent forces of muscle contractions. Usually, the primary patient examination focuses on the aetiology of the seizure, which sometimes delays the diagnosis of fractures. This is a case report of a 19-year-old woman who sustained three compression fractures of the thoracic spine due to a generalized tonic-clonic seizure, and a discussion of the diagnostic challenges in such a rare case.
Topics: Humans; Female; Spinal Fractures; Young Adult; Fractures, Compression; Thoracic Vertebrae; Seizures; Fractures, Multiple; Tomography, X-Ray Computed; Epilepsy, Tonic-Clonic
PubMed: 38704711
DOI: 10.61409/V05230296 -
Archives of Disease in Childhood Nov 2019The measurement of bone density is a frequent request in the assessment of children with concerns about bone health due to chronic disease or recurrent fractures. Dual... (Review)
Review
The measurement of bone density is a frequent request in the assessment of children with concerns about bone health due to chronic disease or recurrent fractures. Dual energy X-ray absorptiometry (DXA) remains the recommended modality and is widely available. However, the interpretation and reporting of results in growing individuals needs to be undertaken by individuals who are familiar with scanning children and the potential pitfalls.
Topics: Absorptiometry, Photon; Bone Density; Bone Diseases; Child; Clinical Competence; Fractures, Bone; Humans; Reproducibility of Results; Tomography, X-Ray Computed
PubMed: 31023705
DOI: 10.1136/archdischild-2019-316940 -
Revue de Chirurgie Orthopedique Et... 1974
Topics: Fracture Fixation; Fracture Fixation, Internal; Fracture Fixation, Intramedullary; Fractures, Bone; Humans; Postoperative Complications; Recurrence
PubMed: 4279070
DOI: No ID Found -
The Journal of Craniofacial Surgery Sep 2023Nasoorbitoethmoid (NOE) fractures impact growth of the craniofacial skeleton in children, which may necessitate differentiated management from adult injuries. This study...
BACKGROUND
Nasoorbitoethmoid (NOE) fractures impact growth of the craniofacial skeleton in children, which may necessitate differentiated management from adult injuries. This study describes characteristics, management, and outcomes of NOE fractures in children seen at a single institution.
METHODS
A retrospective review of patients under 18 years who presented to our institution from 2006 to 2021 with facial fractures was conducted; patients with NOE fractures were included. Data collected included demographics, mechanism of injury, fracture type, management, and outcomes.
RESULTS
Fifty-eight patients met inclusion criteria; 77.6% presented with Manson-Marcowitz Type I fractures, 17.2% with Type II, and 5.2% with Type III. The most common cause of injury was motor vehicle accidents (MVAs, 39.7%) and sports (31%). Glasgow Coma Scale and injury mechanism were not predictive of injury severity in the pediatric population ( P =0.353, P =0.493). Orbital fractures were the most common associated fractures (n=55, 94.8%); parietal bone fractures were more likely in Type III fractures ( P =0.047). LeFort III fractures were more likely in type II fractures ( P =0.011). Soft tissue and neurological injuries were the most common associated injuries regardless of NOE fracture type (81% and 58.6%, respectively). There was no significant difference in type of operative management or in the rates of adverse outcomes between types of NOE fractures.
CONCLUSIONS
These findings suggest that pediatric NOE fractures, although rare, present differently from adult NOE fractures and that revisiting predictive heuristics and treatment strategies is warranted in this population.
Topics: Child; Humans; Adolescent; Skull Fractures; Orbital Fractures; Fracture Fixation; Nasal Bone; Retrospective Studies; Maxillary Fractures; Fractures, Multiple
PubMed: 37458265
DOI: 10.1097/SCS.0000000000009514 -
Cureus Dec 2017Osteoporotic patients can present with either single or multiple fractures secondary to repeated falls and progressive osteoporosis. Multiple fractures often lead to... (Review)
Review
Osteoporotic patients can present with either single or multiple fractures secondary to repeated falls and progressive osteoporosis. Multiple fractures often lead to additional spinal deformity and are a sign of more severe osteoporosis. In the thoracic spine, multiple fractures are associated with the development of gradual thoracic kyphosis but neurologic deficits are uncommon. In the lumbar spine, patients with multiple lumbar fractures have more constant lumbar pain, may have symptoms related to concurrent lumbar stenosis or degenerative scoliosis, and may present with radiculopathy, especially with fractures at L4 and L5. In a review of a series of patients with recurrent multiple lumbar fractures or 'cascading' fractures, it was found that all the patients were female, had severe osteoporosis, often untreated, had a previous history of multiple previous thoracic and lumbar fractures, and all had associated scoliotic spinal deformities ranging from 6 to 50. It was found that if the curve progressed and the greater the degree of curvature, the more frequently subsequent multiple fractures developed, leading to recurrent acute episodes of pain. Forty percent also had additional sacral insufficiency fractures, an unusually high percentage. Biomechanically, the lumbar spine is both more mobile and supports a larger portion of the spinal load compared to the thoracic spine. The existence or worsening of a lumbar spinal deformity from degenerative lumbar scoliosis shifts the mechanical forces more to one side on already weakened osteoporotic lumbar vertebrae and sacrum, leading to an increased incidence of these fractures. Because of the chronic and uneven lower lumbar spinal load with severe vertebral osteoporosis in certain patients with repeat lumbar fractures and worsening degenerative lumbar scoliosis, there may be a rationale to add preventive vertebroplasty at adjacent vertebral endplates when treating acute recurrent lumbar fractures to decrease the incidence of recurrence in other vertebrae.
PubMed: 29492351
DOI: 10.7759/cureus.1962