Osteoporosis is the most common bone disease affecting millions of people worldwide, particularly in elderly or in post-menopausal women. The pathogenesis is useful to understand the possible mechanism of action of anti-osteoporotic drugs. Early diagnosis, possible with several laboratory and instrumental tests, allows a major accuracy in the choice of anti-osteoporosis drugs. Treatment of osteoporosis is strictly related to severity of pathology and consists on prevention of fragility fractures with a correct lifestyle and adequate nutritional supplements, and use of pharmacological therapy, started in patients with osteopenia and history of fragility fracture of the hip or spine. The purpose of this review is to focus on main current pharmacological products to treat osteoporotic patients.
Hypophosphatemic rickets (HR) is a genetic disorder, which prevents sufficient reabsorption of phosphate in the proximal renal tubule, with increased phosphate excretion, resulting in rickets. The more common form of HR is an X-linked inherited trait, with a prevalence of 1/20,000. The defective gene is located on the X chromosome, but females may present with a wide variety of clinical manifestations. The less common form of HR is caused by autosomal-dominant transmission. Activating mutations of the fibroblast growth factor 23 (FGF-23) gene and inactivating mutations in the phosphate regulating gene (PHEX gene with homologies to endopeptidases on the X chromosome), involved in the regulation of FGF-23, have been identified and have been implicated in the pathogenesis of these disturbances. A review of etiopathogenesis and clinical, differential diagnostic and therapeutic aspects of HR, with a particular emphasis on bone impairment, is reported.
BackgroundAlso known as clubfoot, idiopathic congenital talipes equinovarus (ICTEV) is the most common pediatric deformity and occurs in 1 in every 1000 live births. Even though it has been widely researched, the etiology of ICTEV remains poorly understood and is often described as being based on a multifactorial genesis. Genetic and environmental factors seem to have a major role in the development of this disease. Thus, the aim of this review is to analyze the available literature to document the current evidence on ICTEV etiology.MethodsThe literature on ICTEV etiology was systematically reviewed using the following inclusion criteria: studies of any level of evidence, reporting clinical or preclinical results, published in the last 20 years (1998–2018), and dealing with the etiology of ICTEV.ResultsA total of 48 articles were included. ICTEV etiology is still controversial. Several hypotheses have been researched, but none of them are decisive. Emerging evidence suggests a role of several pathways and gene families associated with limb development (HOX family; PITX1-TBX4), the apoptotic pathway (caspases), and muscle contractile protein (troponin and tropomyosin), but a major candidate gene has still not been identified. Strong recent evidence emerging from twin studies confirmed major roles of genetics and the environment in the disease pathogenesis.ConclusionsThe available literature on the etiology of ICTEV presents major limitations in terms of great heterogeneity and a lack of high-profile studies. Although many studies focus on the genetic background of the disease, there is lack of consensus on one or multiple targets. Genetics and smoking seem to be strongly associated with ICTEV etiology, but more studies are needed to understand the complex and multifactorial genesis of this common congenital lower-limb disease.
Knee osteoarthritis (OA) is a chronic, degenerative, and progressive disease of articular cartilage, producing discomfort and physical disability in older adults. Thirteen percent of elderly people complain of knee OA. Management options for knee OA could be divided into the following categories: conservative, pharmacological, procedural, and surgical. Joint replacement is the gold standard, reserved for severe grades of knee OA, due to its complications rate and increased risk of joint revision. A nonsurgical approach is the first choice in the adult population with cartilage damage and knee OA. Yearly, more than 10% of knee OA-affected patients undergo intra-articular injections of different drugs, especially within three months after OA diagnosis. Several molecules, such as corticosteroids injection, hyaluronic acid (HA), and platelet-rich plasma (PRP), are managed to reduce the symptoms of patients with knee OA. The aim of this review was to offer an overview of intra-articular injections used for the treatment of OA and report the conventional pharmacological products used.
BACKGROUNDLegg-Calvé-Perthes disease (LCPD) is a clinical condition affecting the femoral head of children during their growth. Its prevalence is set to be between 0.4/100000 to 29.0/100000 children less than 15 years of age with a peak of incidence in children aged from 4 years to 8 years. LCPD aetiology has been widely studied, but it is still poorly understood.AIMTo analyse the available literature to document the up-to-date evidence on LCPD aetiology.METHODSA systematic review of the literature was performed regarding LCPD aetiology, using the following inclusion criteria: studies of any level of evidence, reporting clinical or preclinical results and dealing with the aetiology or pathogenesis of LCPD. Two reviewers searched the PubMed and Science Direct databases from their date of inception to the 20th of May 2018 in accordance with the Preferred Reporting Items for Systemic Reviews and Meta-Analyses guidelines. To achieve the maximum sensitivity of the search strategy, we combined the terms: ‘‘Perthes disease OR LCPD OR children avascular femoral head necrosis” with “pathology OR aetiology OR biomechanics OR genetics” as either key words or MeSH terms.RESULTSWe include 64 articles in this review. The available evidence on LCPD aetiology is still debated. Several hypotheses have been researched, but none of them was found decisive. While emerging evidence showed the role of environmental risk factors and evidence from twin studies did not support a major role for genetic factors, a congenital or acquired predisposition cannot be excluded in disease pathogenesis. One of the most supported theories involved mechanical induced ischemia that evolved into avascular necrosis of the femoral head in sensible patients.CONCLUSIONThe literature available on the aetiology of LCPD presents major limitations in terms of great heterogeneity and a lack of high-profile studies. Although a lot of studies focused on the genetic, biomechanical and radiological background of the disease, there is a lack of consensus on one or multiple major actors of the etiopathogenesis. More studies are needed to understand the complex and multifactorial genesis of the avascular necrosis characterizing the disease.
PurposeFlexible flatfoot (FFF) is a widespread condition in juvenile patients. If symptomatic, FFF can require surgical treatment. The calcaneo-stop procedure has shown excellent clinical and radiographic outcomes and low rates of complications. The aim of the present study was to assess the sport practice of young athletes affected by FFF having undergone the calcaneo-stop procedure.MethodsBetween 2008 and 2016, 68 sport practitioners were bilaterally treated by the calcaneo-stop procedure, for a total of 136 FFF cases. Clinical evaluation, including the American Orthopedic Foot and Ankle Score (AOFAS), the Yoo et al score and The Foot & Ankle Disability Index (FADI) and FADI Sport scores were assessed. Radiographic evaluation was based on measurement of talar declination, Costa-Bertani’s angle and calcaneal pitch.ResultsMean follow-up was 57.6 months (sd 16.8). The AOFAS score mean increased from 79.3 (sd 5.7) to 97.3 (sd 4.5) three years after surgery. The Yoo score improved from 3.1 (sd 1.0) preoperatively to 11.7 (sd 0.6) three years after surgery. The FADI Sport subscale mean improved from 74.1 (sd 10.4) preoperatively to 95.9 (sd 4.9) three years after surgery.Costa-Bertani’s angle decreased from 156.1° (sd 4.2°) to 135.8° (sd 7.3°) at three years postoperatively; mean talar declination angle decreased from 44.2° (sd 6.3°) to 30.6° (sd 3.2°) at three years postoperatively and mean calcaneal pitch increased from 12.6° (sd 2.3°) to 16.3° (sd 1.3°) at three years postoperatively.ConclusionAdolescent patients who underwent the calcaneo-stop procedure reported satisfactory outcomes in terms of clinical and radiological evaluations. Moreover, our results showed an improvement of sport activity levels, with patients recovering sports activity within three months of surgery and without limitation in the execution of preferred activities.Level of Evidence:IV
Introduction. We report the results of a series of 40 patients with chronic insertional Achilles tendinopathy treated with low-energy ESWT after the failure of a 3-month program of eccentric exercises alone. Methods and Materials. 40 patients, 28 (70%) males and 12 (30%) females, were treated between January and December 2014. All patients were previously treated with only eccentric exercises for a 3-month period. The treatment protocol included 4 sessions of ESWT with a 2-week interval, from 800 shots in each one (4 Hz, 14 KeV), together with eccentric exercises. Visual Analogue Scale (VAS) and American Orthopedic Foot and Ankle Society (AOFAS) Hindfoot score were recorded. Results. At the 12-month follow-up, 26 (65.0%) patients did not complain about pain (VAS < 2), 11 (27.5%) patients got back to normal activities despite residual pain (VAS 2–4), and 3 (7.5%) of the patients still complained about pain (VAS > 4). There was no significative improvement in both scores after eccentric exercises alone. Mean VAS improvement was 5.8 ± 1.3 SD points (P < 0.001). Mean AOFAS Hindfoot score improvement was 19.8 ± 5.0 SD points (P < 0.001). Conclusions. ESWT is recommended, in combination with an eccentric exercise program, in patients with chronic Achilles tendinopathy being both insertional and not.
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