The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys.

PURPOSE: This study aimed to assess the real-world management of achondroplasia in Italy. METHODS: Two online surveys addressed to (1) parents/caregivers of individuals with achondroplasia and (2) Italian clinicians managing individuals with achondroplasia were conducted to assess real-world perspectives on achondroplasia management. Both surveys collected data on either patient or clinician demographics, details on diagnoses and referrals, disease complications, and views/experiences with limb lengthening surgery. RESULTS: In total, 42 parents/caregivers and 19 clinicians (from 18 hospitals) completed the surveys. According to parents/caregivers, achondroplasia diagnosis was most commonly made in the third trimester of gestation (55% of respondents), with a genetic test performed to confirm the diagnosis in all but one case. In contrast, the clinicians indicated that, while achondroplasia was typically suspected during the prenatal period (78%), diagnosis was more frequently confirmed postnatally (72%). Parents/caregivers reported that the greatest impact of achondroplasia-related complications occurred in their children between the ages of 2-5 years. The most significant complications were otitis, sleep apnoea, stenosis of the foramen magnum or pressure on the spinal cord, and hearing difficulties. Lengthening surgery had been presented as a treatment option to 92% of responding parents/caregivers, with 76% of clinicians viewing surgery favourably. Typically, clinicians' reasons for suggesting limb lengthening surgery were to improve patient quality of life, increase patient autonomy and self-acceptance, improve trunk-limb disproportion, short stature and walking, and ensure that all possible treatment options had been presented to the parents/caregivers. CONCLUSION: This survey provides insight into the real-world management of individuals with achondroplasia in Italy.

Bilateral osteochondritis dissecans of the patella in an adolescent skier with patellofemoral maltracking treated with pulsed electromagnetic field therapy.

Juvenile osteochondritis dissecans of the knee typically occurs in young athletes, and usually localizes on the medial femoral condyle. Bilateral localization is uncommon. Patellofemoral involvement is rare, mainly found in basketball and soccer players, and never related to patellofemoral congenital problems such as trochlear dysplasia. We report here the first case, to our knowledge, of bilateral juvenile osteochondritis dissecans with patellar localization in a young skier with patellofemoral maltracking and trochlear dysplasia.

Correction of post traumatic tibial varus deviation with hexapodalic external fixator.

Physeal fractures are typical in childhood and for their involvement of the germinal layer of the physis they can be followed by growth complications. Axial deviation is one of these. Considering the young age of the patients it is critical to restore articular correct alignment with the least invasive surgery possible. We report here the first case of correction of post traumatic tibial varus deviation with exapodalic external fixator.

Effectiveness of bone marrow aspirate concentrate (BMAC) as adjuvant therapy in the surgical treatment of congenital pseudoarthrosis of the tibia: a retrospective comparative study.

Congenital pseudoarthrosis of the tibia (CPT) is a rare disease characterised by the onset of bone anomalies or fractures, leading to deformities in paediatric patients. The aetiology of this pathology is unknown. The main theories include the presence of hamartomatous tissue related to Neurofibromatosis type 1, vascularisation deficit of the periosteum and alterations in the numbers and functions of the osteoblasts and osteoclasts in loco. Surgical treatment generally requires multiple operations during the patient's childhood and adolescence. The best outcomes seem to occur when using intramedullary nailing, vascularised fibular transplant and external fixation with the Ilizarov technique. The purpose of this paper is to evaluate the effectiveness of in-situ injections of Bone Marrow Aspirate Concentrate (BMAC) as an adjuvant therapy for congenital pseudoarthrosis of the tibia in patients treated with external fixation and that of radiographic healing over time compared to external fixation treatment alone. We performed a retrospective review of clinical and radiographic records of patients affected by CPT and treated in the Paediatric Orthopaedics and Traumatology Department of the Gaetano Pini Orthopaedic Institute with in-situ injections of bone marrow aspirate concentrate (BMAC) on the pseudoarthrosis site, in addition to pseudoarthrosis site excision and application of circular external fixator frame in compression (Group A). The time needed to reach the radiological consolidation of the resection site was recorded and compared to that needed for patients treated with only pseudoarthrosis site excision and application of circular external fixator frame in compression (Group B). There is a statistically relevant improvement of healing time in patients affected by congenital pseudoarthrosis of the tibia treated with external fixation and bone marrow aspirate concentrate compared to patients affected by the same pathology treated with external fixation only. Injection of MSC in the pseudoarthrosis site after focus removal in combination with circular external fixation achieves faster bone healing compared with external fixation only, and the lower refracture percentage may be associated with the better quality and structure of the new bone. However, it would be desirable to have a longer followup to determine if the results of the BMC as adjuvant therapy will hold up over time.

Chemical and physical influences in bone and cartilage regeneration: a review of literature.

Nowadays several studies demonstrate the influence of chemical and physical stimulation to bone and cartilage exist. The first studies date back to the 50s and for a long time, they did not have a strong impact on clinical practice. In recent times, however, the findings arising from these studies are increasingly used to address clinical problems such as osteoarthritis or non-unions. The aim of this article is to make a review of the literature of the state of the art about physical and chemical influences on bone and cartilage.

Fibula-pro-tibia transfer with external fixator after tibia fracture with extensive bone defect: a case report.

A 27-year-old girl suffered a tibial fracture with an extensive bone defect due to a major trauma. At first, she was treated with a plate with the purpose to obtain a fibula-pro-tibia transfer, without any improvement. At one-year-follow up, a non-union due to mechanical hardware failure was shown by x-ray. Thus, a second surgery was performed: the ipsilateral fibula was tightly wedged between the preserved proximal and distal third of tibia with an external fixator. We report a follow up of 1 year after the reconstruction that allowed a good bone healing and a remodeling with also further ossification of the periosteal sheath of the fibula.

Animal models for cartilage repair.

Cartilage lesions still represent an unsolved problem: despite the efforts of the basic and translational research, the regeneration of this tissue is far from being reached (1-3). Articular cartilage lesions can be divided in two main groups: superficial or partial defects and full-thickness defects (4, 5). Partial lesions are not able to self-heal because multipotent cells from the bone marrow cannot reach the area leading to a progressive degeneration of the tissue (6). Conversely, full-thickness injuries possess greater chances to heal because subchondral bone involvement allows for the migration of mesenchymal cells, which fill the damaged area (7, 8). However, healing occurs through the formation of a fibrocartilaginous tissue, which has different biomechanical and biological properties (9). Native hyaline cartilage has indeed specific biomechanical properties, which confer resistance to compressive and shear stresses; the reparative fibrocartilaginous tissue lacks these abilities, therefore, the surrounding healthy cartilage progressively degenerates. In the past years, several therapeutic strategies have been developed to restore the damaged cartilage, bone marrow stimulation (chondroabrasion, drilling, micro- or nano-fractures) and more recently, tissue engineering approaches (10-14). Some of these latter procedures have already been applied in clinical practice such as matrix-induced autologous chondrocyte implantation (MACI) (15) or osteochondral scaffold implantation (16). Generally, tissue engineering approaches are based on the combination of three main elements: cells (i.e. primary chondrocytes or multipotent mesenchymal cells), biocompatible scaffolds (i.e. polymers, composites, ceramics) and signaling molecules (i.e. growth factors). Moreover, several culture conditions (i.e. static or dynamic cultures) and biomechanical stimuli can be applied during the in vitro culture to promote tissue maturation (17-19). However, an in vivo culture is mandatory to validate a new engineered construct as the in vitro phase lacks the essential in vivo environmental stimuli and because the in vivo culture allows for the testing of the biocompatibility and safety of a new material (18, 19). Moreover, preclinical animal models are crucial to understand the molecular mechanisms of cartilage lesions favoring the development of new regenerative strategies (20, 21). in vivo studies on animal models should focus on the analysis of the cellular component, analyzing the maintenance of the cellular phenotype and the tumorigenicity; on the evaluation of the biocompatibility, toxicity and degradation of the biomaterial and on the assessment of the engineered construct. In this manuscript, we will review the most common preclinical animal models, which are used to understand cartilage biology and therefore to develop new tissue engineering strategies. We will focus on both small and large animal models highlighting their peculiarities, advantages and drawbacks.

External fixation versus titanium endomedullary nail in the treatment of diaphyseal fractures of the lower limb in pediatric age: our experience.

In the past, the use of external fixation technique (FE) in children was limited, as the patient's compliance to the treatment was scarce due to an important visual impact for the little patient. With the evolution of the surgical approach and the technology of fixators, we have been able to considerably implement the treatment possibilities, thus allowing for an immediate load bearing of the operated limb and for the early mobilization of the joints. The FE technique does not represent an overcoming of classical synthesis techniques by internal fixation with elastic intramedullary nails, but it simply offers a valid treatment alternative to selected cases. In this work, we radiologically and clinically evaluated pediatric patients treated with FE for diaphyseal fractures of the lower limb and we compared them with patients treated with standard Titanium Endomedullary Nail (TEN) techniques. Our results confirmed that FE is a valid alternative treatment for these types of fractures.

Comparison of early functional outcomes between two different surgical approaches for total hip arthroplasty.

Total Hip Arthroplasty (THA) is considered the most successful treatment for advanced hip osteoarthritis. Different surgical approaches for THA are available and they have shown excellent outcomes in the long-term follow-ups. However, few studies have analyzed the functional outcomes in the first days after a THA surgery. The purpose of this study was to compare the early functional outcomes between two different surgical techniques: a minimally invasive direct anterior approach (mini-DAA) and a postero-lateral approach (PL). Twelve patients for each group were analyzed. Pre- and postoperative (3, 10, 30 and 90 days after surgery) Patient-Reported Outcome Measures (PROMs) were administered: HOOS, HHS, VAS and SF-12-v2 scores. Moreover, comparison between surgical operation time and blood loss were examined. PROMs showed a significant improvement in the SF-12-v2 in the mini-DAA group compared to the PL group at 3 days after surgery: this difference was maintained also after 10 and 30 days. In addition, HOOS and HHS were significantly ameliorated in the mini-DAA group starting 10 days from surgery. In both groups, a physiological pain reduction was observed in the first days after surgery; comparing it to the pre-surgical VAS values, we found a significant improvement in the scores for the mini-DAA group after 30 days. Moreover, we demonstrated a significant reduction in blood loss for the mini-DAA group. Surgical operation times were similar in the two groups; however, the duration of the mini-DAA procedure was shorter compared with the known literature. In this preliminary study, we demonstrated that the minimally invasive direct anterior approach for THA may lead to benefits in the early postoperative time, as it allows for an improvement in functional outcomes, a reduction of postoperative pain, a reduction of hospitalization time and consequent reduction of postoperative complications; therefore, this surgical approach may consent an early return to work and daily activities.

The treatment of low-grade septic non-unions.

Non-union (or pseudoarthrosis) is defined as a fracture that fails to consolidate after 6 months from the trauma. Current conservative treatments consist of biological (i.e. with calcium, Vitamin D) and mechanical stimulation. Moreover, surgical approaches include the use of endomidollar nail osteosynthesis, compression plates that are often associated with bone grafts. External fixation is a valid surgical alternative especially in case of septic non-unions. Indeed, compression-distraction osteosynthesis results in a significant improvement in bone vascularisation and exerts a powerful osteoinductive stimulus on the non-union site. In this review, we will describe a cohort of patients affected by low-grade septic non-unions and treated with external fixation.

A new way to treat forearm post-traumatic non-union in young patients with intramedullary nailing and platelet-rich plasma.

INTRODUCTION: Non-union rate in forearm fractures is generally less than 2% when a proper technique is used; this rate increases when ulnar lesions are involved. PATIENTS AND METHODS: We present a case series of seven young patients whose average age was 14 years (range 11-19 years) at the time of surgery and who presented with a forearm post-traumatic non-union that was previously treated in different ways (three isolated ulnar non-union, two isolated radial non-union and two combined). Average follow-up was 34 months (range 9-72 months). Surgical treatment began with the removal of the previous synthesis and with curettage of the non-union area. The Acumed ulnar rod, Acumed radial rod and Thalon elastic nail (all of them are unreamed and locked nails) together with autologous platelet-rich plasma (PRP) obtained with the Biomet System (concentration of 158.2×10(4) platelets/µL) were chosen to treat the patients. X-rays and clinical controls were conducted every 30 days until recovery. RESULTS: All patients recovered: average recovery was 23 weeks from operation (range 16-36 weeks) and nails were removed 3 months after complete healing. Six patients had excellent results and one patient had a good result (Patient 2, forearm pronosupination 60-0-40 degrees). DISCUSSION: The purpose of the case series was to establish a better way of treatment and to find a technique that could avoid the use of bone grafts, because obtaining autologous bone requires a further surgical procedure that can be really invasive depending on the amount of bone needed. CONCLUSION: All patients in the study showed complete recovery, with excellent clinical outcomes. Although there were only seven patients in this case series, and there is a need to analyse more patients, this study showed that the use of a specific locking nail system can provide proper stability to ulnar or radial atrophic non-union despite rotational forces, and when combined with autologous growth factors (PRP) is sufficient to promote bone healing in young patients without the necessity to take autologous bone grafts.

[Measures to prevent injuries related to bicycle seats]. / Strumenti di prevenzione per i traumi correlati all'uso dei seggiolini per bicicletta.

Injuries related to the use of bicycle seats are increasing due to the more frequent use of bicycles, mostly in metropolis. Several cases of children who suffered lesions to the lower limbs are reported from which we may summarize the most frequent clinical features, characterized by a foot swelling caused by the crushing between the wheel spokes, with different degrees of skin injuries. Fractures of the lower part of the leg bones are frequent as well. A greater number of cases was reported in summertime and, in all the bicycles, there was no spoke cover and the seats did not provide any protection to the feet. So far no precise rules for the marketing approval of bicycle seats have been fixed by UE, contrary to what has been already set for cars. Therefore, we suggest that such rules should soon be enforced. We also recommend the compulsory use of the helmet, as in other countries. We underline the usefulness of a more detailed epidemiological monitoring to better understand the dynamic of such traumatic events and, consequently, achieve some further improvements in the seats design, for an increased safety. The critical factor in prevention, however, will always remain a proper sanitary education. In the general chapter of accidents prevention, pediatrics should provide the parents with all the indications and cautions concerned with bicycle seat safety.

The treatment of Köhler's second syndrome by continuous skeletal traction.

Osteochondrosis of the head of the second metatarsal bone, also known as Köhler's second disease, is typical of the second decade of life. This disease is characterized by evident symptoms during its acute phase, successively resulting in permanent changes in the metatarsal head. The authors propose a new method which is easy to use and which leads to rapid resolution of the osteochondrosis as well as to a rapid resumption of normal life and sports activity.