-
Medicina (Kaunas, Lithuania) May 2021Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder characterised by bone fragility, multiple fractures, bone deformity, and short... (Review)
Review
Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder characterised by bone fragility, multiple fractures, bone deformity, and short stature. OI is a heterogeneous disorder primarily caused by mutations in the genes involved in the production of type 1 collagen. Severe OI is perinatally lethal, while mild OI can sometimes not be recognised until adulthood. Severe or lethal OI can usually be diagnosed using antenatal ultrasound and confirmed by various imaging modalities and genetic testing. The combination of imaging parameters obtained by ultrasound, computed tomography (CT), and magnetic resource imaging (MRI) can not only detect OI accurately but also predict lethality before birth. Moreover, genetic testing, either noninvasive or invasive, can further confirm the diagnosis prenatally. Early and precise diagnoses provide parents with more time to decide on reproductive options. The currently available postnatal treatments for OI are not curative, and individuals with severe OI suffer multiple fractures and bone deformities throughout their lives. In utero mesenchymal stem cell transplantation has been drawing attention as a promising therapy for severe OI, and a clinical trial to assess the safety and efficacy of cell therapy is currently ongoing. In the future, early diagnosis followed by in utero stem cell transplantation should be adopted as a new therapeutic option for severe OI.
Topics: Adult; Collagen Type I; Female; Genetic Testing; Humans; Mesenchymal Stem Cell Transplantation; Mutation; Osteogenesis Imperfecta; Pregnancy
PubMed: 34068551
DOI: 10.3390/medicina57050464 -
Australian Prescriber Oct 2022Osteoporosis, osteopenia and minimal trauma fractures are becoming increasingly common in the ageing population. Fractures cause increases in morbidity and mortality and... (Review)
Review
Osteoporosis, osteopenia and minimal trauma fractures are becoming increasingly common in the ageing population. Fractures cause increases in morbidity and mortality and have a significant financial impact on the healthcare system and society Addressing risk factors for osteoporosis early may prevent or delay the onset of fractures and use of drugs. Calcium and vitamin D supplementation may benefit people with a high risk of deficiency (e.g. institutionalised older people) but may not be required in people without risk factors. Impact and resistance exercises and physical activity can increase bone density and prevent falls Antiresorptive drugs such as bisphosphonates and denosumab remain first-line treatment options for osteoporosis. The ongoing need for bisphosphonates should be assessed after five years and treatment may then be interrupted in some patients. Progressive bone loss will recur slowly. Denosumab therapy should not be interrupted without switching to another therapy, as post-treatment bone loss can progress rapidly. All patients will need ongoing monitoring and most will require some long-term therapy once started Raloxifene may be considered in women who do not tolerate first-line antiresorptive drugs. Romosozumab is a new anabolic treatment for osteoporosis and, together with teriparatide, is subsidised as second-line therapy for individuals with severe disease and multiple fractures. Specialist referral should be considered for patients who sustain fractures while undergoing osteoporosis therapy.
PubMed: 36382174
DOI: 10.18773/austprescr.2022.054 -
Vnitrni Lekarstvi 2021Tumor induced osteomalacia (TIO) is a rare paraneoplastic syndrome typically caused by small endocrine tumors that secrete fibroblast growth factor 23(FGF23). TIO is...
Tumor induced osteomalacia (TIO) is a rare paraneoplastic syndrome typically caused by small endocrine tumors that secrete fibroblast growth factor 23(FGF23). TIO is clinically characterized by progressive muskuloskeletal pain, fatigue, proximal muscle weakness, and multiple fractures that lead to long-term disability. Due to the non-specific symptoms of the disease, it may take several years for them to be properly diagnosed and treated, so it is important to better inform about this rare paraneoplastic syndrome.
Topics: Fibroblast Growth Factor-23; Fibroblast Growth Factors; Humans; Osteomalacia; Pain; Paraneoplastic Syndromes
PubMed: 35459330
DOI: No ID Found -
Clinical Chemistry Dec 2019
Topics: Fractures, Multiple; Humans; Infant, Newborn; Jaundice
PubMed: 31776161
DOI: 10.1373/clinchem.2019.304584 -
Journal of Multidisciplinary Healthcare 2022Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by involvement of various organ systems. It predominantly affects the liver, skeleton, heart,... (Review)
Review
Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by involvement of various organ systems. It predominantly affects the liver, skeleton, heart, kidneys, eyes and major blood vessels. With myriads of presentations across different age groups, ALGS is usually suspected in infants presenting with high gamma glutamyl transpeptidase cholestasis and/or congenital heart disease. In children it may present with decompensated cirrhosis, intellectual disability or short stature, and in adults vascular events like stroke or ruptured berry aneurysm are more commonly noted. Liver transplantation (LT) is indicated in children with cholestasis progressing to cirrhosis with decompensation. Other indications for LT include intractable pruritus, recurrent fractures, hepatocellular carcinoma and disfiguring xanthomas. Due to an increased risk of renal impairment noted in ALGS, these patients would require optimized renal sparing immunosuppression in the post-transplant period. As the systemic manifestations of ALGS are protean and a wider spectrum is being increasingly elucidated, a multidisciplinary team needs to be involved in managing these patients. Moreover, many basic-science and clinical questions especially with regard to its presentation and management remain unanswered. The aim of this review is to provide updated insights into the management of the multi-system involvement of ALGS.
PubMed: 35237041
DOI: 10.2147/JMDH.S295441 -
Cureus Oct 2023Acute patellar dislocation (PD) is usually a problem of adolescents and young adults. In most cases, it is a sports-related injury. It is the result of an indirect force... (Review)
Review
Acute patellar dislocation (PD) is usually a problem of adolescents and young adults. In most cases, it is a sports-related injury. It is the result of an indirect force on the knee joint, which leads to valgus and external rotation of the tibia relative to the femur. PD is unlikely to occur on a knee with normal patellofemoral joint (PFJ) anatomy. Acute PD consists of an acute injury of the ligamentous medial patellar stabilizers in the background of factors predisposing to patellar instability. These factors are classified into three groups. The first group refers to the integrity of the ligamentous medial patellar restraints, particularly, the medial patellofemoral ligament (MPFL). The second group refers to an abnormal PFJ anatomy, which renders the patella inherently unstable inside the trochlea. The third group refers to the overall axial and torsional profile of the lower limb and to systemic factors, such as ligament laxity and neuromuscular coordination of movement. PD at a younger age is associated with an increased number and severity of patellar instability predisposing factors and lower stress to dislocate the patella. Acute primary PD is usually treated conservatively, while surgical treatment is reserved for recurrent PD. The aim of treatment is to restore the stability and function of the PFJ and to reduce the risk of patellar redislocation. Surgical procedures to treat patellar instability are classified into non-anatomic and anatomic procedures. Non-anatomic procedures are extensor mechanism realignment techniques that aim to center the patella into the trochlear groove. Anatomic procedures aim to restore the PFJ anatomy (ruptured ligaments, osteochondral fractures), which has been severed after the first incident of PD. Anatomic procedures, especially MPFL reconstruction, are more effective in preventing recurrent PD, compared with non-anatomic techniques. Theoretically, all factors that affect PFJ stability should be evaluated and, if possible, addressed. This is practically impossible. Considering that the MPFL ruptures in almost all PDs, MPFL reconstruction is the primary procedure, which is currently selected by most surgeons as a first-line treatment for patients with recurrent PD. Restoration of the axial and torsional alignment of the lower limbs is also increasingly implemented by surgeons. Non-anatomic surgical techniques, such as tibial-tuberosity osteotomy, are used as an adjunct to anatomic procedures. In the presence of multiple PFJ instability factors, acute MPFL reconstruction may be the treatment of choice for acute primary PD as well. Skeletal immaturity of the patient precludes osseous procedures to avoid premature physis closure and subsequent limb deformity. Unfortunately, restoration of the patient's previous activity level or participation in more strenuous sports is questionable and not easy to predict. In the case of competitive athletes, PD may prevent participation in elite levels of sports.
PubMed: 38021800
DOI: 10.7759/cureus.46743 -
Injury Aug 2019There has been very limited analysis of the relationship between obesity and fractures in the orthopaedic literature. It has been established for some years that...
There has been very limited analysis of the relationship between obesity and fractures in the orthopaedic literature. It has been established for some years that underweight individuals are at greater risk of proximal femoral fractures but recently there has been interest in the susceptibility of obese post-menopausal females to fracture. We have undertaken an analysis of 4886 adult patients who presented with a fracture and had their BMI assessed. Analysis has confirmed the relationship between underweight individuals and proximal femoral fractures but there is also a negative association between obesity and clavicle fractures in males and females and with calcaneal fractures in females. There is a positive relationship between obesity and proximal humeral, finger phalangeal and ankle fractures in males and with humeral diaphyseal, carpal and ankle fractures in females. There was no relationship found between open or multiple fractures and obesity.
Topics: Adult; Body Mass Index; Bone Density; Calcaneus; Clavicle; Female; Fractures, Bone; Health Surveys; Humans; Humerus; Male; Middle Aged; Obesity; Osteoporotic Fractures; Prevalence; Scotland; Sex Factors; Tarsal Bones; Thinness
PubMed: 31256910
DOI: 10.1016/j.injury.2019.06.016 -
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