A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Background: Congenital anomalies of the knee are a spectrum of rare disorders with wide clinical and genetic variability, which are mainly due to the complex processes underlying knee development. Despite progresses in understanding pathomechanisms and associated genes, many patients remain undiagnosed.

Objective: To uncover the genetic bases of a congenital patellar dislocation affecting multiple family members with variable severity.

Capacitive biophysical stimulation improves the healing of vertebral fragility fractures: a prospective multicentre randomized controlled trial.

Background: Capacitively coupling electric fields (CCEF) is a method of non-invasive biophysical stimulation that enhances fracture repair and spinal fusion. This multicentre randomized controlled trial aimed to further examine the roles of CCEF in (1) the resolution of vertebral bone marrow oedema (VBME) using a follow-up MRI study and (2) pain relief, analgesic drug consumption and quality of life improvement in stimulated patients who were referred with acute vertebral fragility fractures (VFFs) compared to non-stimulated patients.

Methods: Between September 2016 and December 2019, patients who were referred to the spine centres that participated in this multicentre randomized clinical study with acute VFFs of type OF1 or OF2 were included in the present study.

Hand-Wrist Disorders in Chainsaw Operators: A Follow-Up Study in a Group of Italian Loggers.

Despite the mechanization process implemented in arboriculture, logging tasks are still manually performed by chainsaw operators, which therefore are exposed to the risk of developing hand-wrist musculoskeletal disorders. Our research aimed to: (a) define whether the slight changes observed in 2017 showed an evolution to overt diseases; (b) study some risk determinants for these diseases such as age, working experience, and performing a secondary job. We recruited in a two-year follow-up study, 38 male forestry workers performing logging tasks employed in the Sicilian Forestry Department located in Enna.

Orthogeriatric co-management for the care of older subjects with hip fracture: recommendations from an Italian intersociety consensus.

Background: Health outcomes of older subjects with hip fracture (HF) may be negatively influenced by multiple comorbidities and frailty. An integrated multidisciplinary approach (i.e.

The Many Faces of Covid-19 at a Glance: A University Hospital Multidisciplinary Account From Milan, Italy.

In March 2020, northern Italy became the second country worldwide most affected by Covid-19 and the death toll overtook that in China. Hospital staff soon realized that Covid-19 was far more severe than expected from the few data available at that time. The Covid-19 pandemic forced hospitals to adjust to rapidly changing circumstances.

Biophysical stimulation of bone and cartilage: state of the art and future perspectives.

Introduction: Biophysical stimulation is a non-invasive therapy used in orthopaedic practice to increase and enhance reparative and anabolic activities of tissue.

Methods: A sistematic web-based search for papers was conducted using the following titles: (1) pulsed electromagnetic field (PEMF), capacitively coupled electrical field (CCEF), low intensity pulsed ultrasound system (LIPUS) and biophysical stimulation; (2) bone cells, bone tissue, fracture, non-union, prosthesis and vertebral fracture; and (3) chondrocyte, synoviocytes, joint chondroprotection, arthroscopy and knee arthroplasty.

Results: Pre-clinical studies have shown that the site of interaction of biophysical stimuli is the cell membrane.

Can Clinical and Surgical Parameters Be Combined to Predict How Long It Will Take a Tibia Fracture to Heal? A Prospective Multicentre Observational Study: The FRACTING Study.

Background: Healing of tibia fractures occurs over a wide time range of months, with a number of risk factors contributing to prolonged healing. In this prospective, multicentre, observational study, we investigated the capability of FRACTING (tibia FRACTure prediction healING days) score, calculated soon after tibia fracture treatment, to predict healing time.

Methods: The study included 363 patients.

Vertebroplasty and kyphoplasty for the treatment of thoracic fractures in osteoporotic patients: a finite element comparative analysis.

Background: Vertebral compression fractures occur in the thoracolumbar junction, causing the collapse of the vertebral body. For their treatment, vertebroplasty and kyphoplasty are used, but it is still unknown which technique is to be preferred.

Methods: Finite element models of the thoracic spine were developed to evaluate the outcomes of vertebroplasty and kyphoplasty.

Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.

Multicentric osteolysis, nodulosis and arthropathy (MONA) is a rare autosomal recessive disorder. To date, 13 mutations of the matrix metalloproteinase 2 (MMP2) gene have been detected in 26 patients with MONA and other osteolytic syndromes. Here, we describe the molecular and functional analysis of a novel MMP2 mutation in two adult Italian siblings with MONA.

Conservative treatment of a femoral neck fracture following nail removal.

With increased longevity, the management of fragility fractures in the elderly is becoming more frequent. In particular, hip fractures have considerable importance due to the significant morbidity and mortality. A 67-year-old woman underwent intramedullary nail (IMN) removal inserted for a pertrochanteric fracture that had occurred 20 months earlier.

Teriparatide in the treatment of non-unions: scientific and clinical evidences.

Introduction: Each fracture has a failing risk which can lead to a non-union. Among the non-invasive strategies proposed to improve bone healing, also in non-union, the use of teriparatide, a drug for the treatment of the osteoporosis, has increasing supporting data.

Experimental Data: Many studies mainly on rats, but also on primates, demonstrate the positive effect on fracture healing of teriparatide, both in physiological and pathological conditions, with a more rapid evolution of the reparative callus.

Biological and pharmacological factors influencing the fracture healing.

Many experimental data are available about the positive effect of some molecules on fracture repair, but data on their efficacy in the clinical use in humans are still lacking. Bone Morphogenetic Proteins are currently used in the treatment of delayed unions, but it is necessary to insert them surgically in the fracture site. The only pharmacological factor with clinical data is teriparatide, but more data are needed to confirm its effect on fracture healing in humans, even if experimental data in animals are robust.

Update on the efficacy, safety, and adherence to treatment of full length parathyroid hormone, PTH (1-84), in the treatment of postmenopausal osteoporosis.

Full length (1-84) parathyroid hormone (PTH) was introduced in Europe as a treatment for postmenopausal osteoporosis in 2006. The efficacy of PTH (1-84) in the prevention of vertebral fractures is very high, and is similar to that of teriparatide. Its action in the prevention of femoral fractures has yet to be fully demonstrated, but the incidence of such fractures in trials was very low, and a decrease in nonvertebral fractures was seen in high-risk patients.

Isolated congenital absence of posterior cruciate ligament? A case report.

A rare case of a 28-year-old Asiatic male with the isolated absence of a posterior cruciate ligament is reported. Clinical features, diagnostic steps, therapeutic strategies and follow-up are described. A review of the literature is also presented.

Severe low turnover osteoporosis.

Severe osteoporosis, a situation with fractures, can worsen in the case of poor response to usual therapies, such as bisphosphonates associated with calcium and vitamin D, especially if bone turnover is strongly suppressed. One way of inverting the poor evolution of non-responders is to use Teriparatide. The case of a non-responder is reported, with considerations about the possibility of detecting these patients before a new fracture takes place.