New Perspectives of Therapies in Osteogenesis Imperfecta-A Literature Review.

(1) Background: Osteogenesis imperfecta (OI) is a rare skeletal dysplasia characterized as a heterogeneous disorder group with well-defined phenotypic and genetic features that share uncommon bone fragility. The current treatment options, medical and orthopedic, are limited and not efficient enough to improve the low bone density, bone fragility, growth, and mobility of the affected individuals, creating the need for alternative therapeutic agents. (2) Methods: We searched the medical database to find papers regarding treatments for OI other than conventional ones. We included 45 publications. (3) Results: In reviewing the literature, eight new potential therapies for OI were identified, proving promising results in cells and animal models or in human practice, but further research is still needed. Bone marrow transplantation is a promising therapy in mice, adults, and children, decreasing the fracture rate with a beneficial effect on structural bone proprieties. Anti-RANKL antibodies generated controversial results related to the therapy schedule, from no change in the fracture rate to improvement in the bone mineral density resorption markers and bone formation, but with adverse effects related to hypercalcemia. Sclerostin inhibitors in murine models demonstrated an increase in the bone formation rate and trabecular cortical bone mass, and a few human studies showed an increase in biomarkers and BMD and the downregulation of resorption markers. Recombinant human parathormone and TGF-ß generated good results in human studies by increasing BMD, depending on the type of OI. Gene therapy, 4-phenylbutiric acid, and inhibition of eIF2α phosphatase enzymes have only been studied in cell cultures and animal models, with promising results. (4) Conclusions: This paper focuses on eight potential therapies for OI, but there is not yet enough data for a new, generally accepted treatment. Most of them showed promising results, but further research is needed, especially in the pediatric field.

The Use and Complications of Halo Gravity Traction in Children with Scoliosis.

Scoliosis is one of the most frequent spine deformities encountered in children and is regularly discovered after 15 years of age with a girls to boys ratio of 2:1. Vertebral arthrodesis involves both short and long term complications. Neurological complications consist of nerve root injuries, cauda equina or spinal cord deficit. Traction is a good orthopaedic technique of progressive deformity correction which attempts to minimize complications. The purpose of this study is to assess the complications that arise during halo gravity traction and to evaluate the correction of the scoliotic curves under traction. A single centre prospective study was conducted on 19 paediatric patients suffering from scoliosis that were admitted between 2019-2022. Traction-related complications were encountered in 94.7% of patients, with the most frequent being cervical pain (89.5%). It was followed by back pain, in 36.8% of the cases, with just 5.3% of the cases having experienced vertigo or pin displacement. Neurological symptoms were present in 26.3% of the patients and pin pain and pin infection equally affected 26.3% of patients. Even though minor halo related complications are frequent, with proper patient monitoring they can be addressed, thus making traction a safe method for progressive curve correction.

Traumatic Hip Dislocation Associated with Proximal Femoral Physeal Fractures in Children: A Systematic Review.

Traumatic hip dislocation might lead to serious complications and a poor outcome. Fortunately, it is a rare condition in pediatric patients. The purpose of this study is to establish and describe the complications caused by hip dislocations associated with transphyseal femoral neck fractures. Therefore, we conducted a literature review that resulted in 11 articles, including 32 patients, older than 10 years of age, suffering from traumatic hip dislocation associated with a transphyseal femoral neck fracture. We presented a case series of three patients with hip fracture-dislocation treated in our clinic that were also evaluated and included in the study. For the 35 patients included in the study group, the percentage of avascular osteonecrosis after hip fracture-dislocation was 88.57%. Traumatic hip dislocation associated with transphyseal femoral neck fracture is a rare condition and has a poor prognosis because of the high incidence of femoral head avascular necrosis (AVN). Reduction should be attempted within six hours the from injury, but this may not minimize the risk of AVN if transphyseal separation occurs. The approach may influence the development of AVN; lateral approach of the hip with great trochanter osteotomy seems to have the lowest number of cases of AVN.

Advantages of Telescopic Screw in Slipped Capital Femoral Epiphysis Treatment: A Retrospective Study and Review of the Literature.

BACKGROUND: Slipped capital femoral epiphysis is due to proximal femur physis failure in adolescent patients. Early iatrogenic closure of proximal growth cartilage in children with significant residual growth potential causes complications such as coxa breva, coxa vara, and lower limb length inequalities. The Free-Gliding SCFE Screw System is a self-extending cannulated screw used in Slipped Capital Femoral Epiphysis (SCFE) fixation and femoral neck fractures. MATERIALS AND METHOD: We conducted a retrospective study on 16 patients. All patients under 11 years old were treated by telescopic cannulated screws fixation. The youngest patient was 7 years old. RESULTS: Out of the 22 operated hips, 2 screws have failed, thus resulting in a lack of telescoping of the screw. We discovered an average lengthening of approximately 10 mm at 24 months postoperative check-up in 20 hips in which lengthening took place. According to the Notzli method, none of the patients had an alpha angle value greater than 48 degrees. CONCLUSION: Fixation with telescopic screw for SCFE in patients less than 11 years old, with mild to moderate slippage, allows the continuous growth and remodeling of the proximal femur, thus avoiding deformities such as coxa breva, coxa vara, FAI, AVN, limb length discrepancies and also allows good range of motion.

Dysplasia Epiphysealis Hemimelica (Trevor's Disease) in Children, Two New Cases: Diagnosis, Treatment, and Literature Review.

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease, is a rare nonhereditary skeletal disorder affecting one side of the epiphyses or the epiphyses-equivalents. It is often misdiagnosed for traumatic injuries, infections, or other tumors because of the nonspecific clinical features. The diagnosis is mostly based on radiographic involvement of one half of the epiphysis displaying an overgrowth; it is hard to distinguish between DEH and osteochondroma on the gross hystopathological exam. There are few immunohistochemical markers, as well as genetic tests, for EXT1 and EXT2 gene expression that can reveal a more accurate diagnosis. No evidence of malignant changes has been reported and no hereditary transmission or environmental factor has been incriminated as an etiological factor. The natural history of the disease is continuous growth of the lesions until skeletal maturity. Without treatment, the joint might suffer degenerative modification, and the patient can develop early onset osteoarthritis. In the present paper, we report two new cases of DEH of the ankle. The aim of this paper is to consider Trevor's disease when encountering tumoral masses in the epiphyses of pediatric patients and to present our treatment approach and results.

Poor prognostic factors of femoral shaft fractures in children treated by elastic intramedullary nailing.

INTRODUCTION: Femoral shaft fractures in pediatric patients are treated by elastic intramedullary nailing using titanium or stainless-steel nails. The elastic stable intramedullary nailing behaves as an internal splint, promoting early mobilization. This type of treatment involves a minimally invasive approach, no damage to the growth plates, and no impairment of femoral head blood supply. PURPOSE: The aim of our study was to identify the negative predicting factors that might lead to an increased complication rate after elastic stable intramedullary nailing of femoral shaft fractures in children. METHODS: We conducted a retrospective study on 137 patients with femoral shaft fractures treated by elastic stable intramedullary nailing. Patients' age ranged between 4 and 17 years. We used data from the medical records of the patients to evaluate postoperative complications. Plain radiographs were analyzed to determine the fracture type, fracture location, and postoperative complications such as delayed union, angular deformities, and limb length discrepancies. Multivariate analysis was conducted to identify predictors for poor outcomes. RESULTS: Complications occurred in 29 patients (21%) and consisted of delayed union, axial deformities, or lower limb length discrepancies. In the group of patients that suffered from complications, mechanism of injury, age, and weight were significant. They were older by an average of 5 years; half of them weighed more than 50 kg and over a half were involved in a road traffic accident. CONCLUSIONS: Elastic nailing is a successful tool to treat femoral shaft fractures. Three factors were demonstrated to influence the outcome. The mechanism of injury, age > 11 years, and weight > 50 kg are the most important and are predictors for development of complications such as delayed union or deformity.

Isolated Meniscus Tears in Adolescent Patients Treated with Platelet-Rich Plasma Intra-articular Injections: 3-Month Clinical Outcome.

OBJECTIVES: Meniscus repair is a challenge for a practitioner, as an injured meniscus can lead to osteoarthritic joint changes with a greatly disabling outcome. Platelet-rich plasma has been regarded as a promising therapy to help induce healing. The purpose of the study is to clinically assess the effectiveness of PRP treatment in adolescents with meniscal lesions. METHODS: This retrospective study analyzed 30 patients with meniscal tears, aged 12 to 17 years, who had documented MRI meniscal lesion and persistent knee pain. In order to evaluate the outcome, the Lysholm knee scoring scale and numerical rating scale were used before injection and 3 months after treatment. RESULTS: Patients had a mean age of 13.93 years, 70% girls and 30% boys. The most affected was the medial meniscus. The mean value before injection on the numerical rating scale (NRS) of pain was 7.73, after the treatment being of 2.0. After treatment, 76.7% of the patients had "excellent" and "good" outcomes, while before injection, just 3% of the patients had a "good" score. CONCLUSIONS: Platelet-rich plasma treatment can be effective in improving the clinical outcomes of adolescent patients with meniscus tears, for whom conservative management and physical therapy have failed to achieve pain relief.

Nursemaid's Elbow - Supination-flexion Technique Versus Hyperpronation/forced Pronation: Randomized Clinical Study.

BACKGROUND: Nursemaid's elbow (NE) represents the most common pathology met in the pediatric orthopedics ambulatory. There are two techniques of reducing the NE: the supination-flexion technique and the hyperpronation or forced pronation technique. MATERIALS AND METHODS: In this randomized clinical study, we aim to compare the two reduction techniques of the NE, by measuring the effectiveness of each and scaling the pain felt by the child, by using the Faces Pain Scale. The study included 116 patients with typical presentation for NE with age under 7 years old (mean age ~3 years old), 45% of males and 55% of females. RESULTS: Hyperpronation was found to be more successful than supination-flexion technique as a first attempt (85% vs. 53%), second attempt (50% vs. 28%), and as a crossover technique (100% vs. 50%) when supination-flexion failed. CONCLUSIONS: This study concludes that hyperpronation technique should be used as a first maneuver reduction in treating NE, a simple one-movement technique.

Negative pressure wound therapy in reconstructing extensive leg and foot soft tissue loss in a child: a case study.

Open fractures of the leg with large loss of tissue require extensive reconstructive methods that can injure the donor area. The use of negative pressure wound therapy (NPWT) may minimise the impact of these reconstructive methods because of its capacity to create granulation tissue that will form a wound bed for the skin graft, thus reducing the volume of soft tissue defect and saving the donor region. This case study describes the effectiveness of NPWT in the treatment and reconstruction of an open fracture of the leg, with massive loss of soft tissue, associated with elastic intramedullary nailing in a 10-year-old female patient, who was a victim of a car accident. Clinical examination revealed a Gustilo-Anderson IIIB open fracture of the left leg, with the avulsion of the fifth toe, disarticulation of the fifth metatarsal bone, extensively damaged skin and subcutaneous tissue in the medium and distal third of the left leg and left foot. The bone was exposed in the distal part of the leg, external malleolus and left calcaneus. Profuse lavage, reduction of the tibial fracture and elastic intramedullary nailing, amputation of the fifth left toe, necrectomy and debridement of devitalised tissue were performed. NPWT was started, with the dressing changed every five days. After 55 days of using NPWT, granulation tissue covered the soft tissue defect and created a wound bed for the skin graft. NPWT helped the management of this open wound, achieving a wound bed for the skin graft, avoiding the use of complex reconstructive methods.

Treatment of the aneurysmal bone cyst by percutaneous intracystic sclerotherapy using ethanol ninety five percent in children.

INTRODUCTION: Aneurysmal bone cyst (ABC) is a benign intraosseous lesion filled with blood that can determine a blowout distension of the bone. The purpose of this study is to evaluate the efficacy of sclerotherapy by percutaneous intralesional administration of ethanol 96% for the treatment of this pathology in paediatric patients. METHOD: The retrospective study includes 17 paediatric patients with ABC who were treated by repeated intracystic injection with ethanol 96%, 1 ml/kg, in our clinic between December 2015 and July 2017. Fluoroscopic guidance was used to inject the cyst with contrast agent. The mean follow-up period was 11 months. RESULTS AND DISCUSSION: All cysts are healed or are in the healing process. The mean age was 11 years old. Seven patients needed three repeated injections and ten patients needed two injections until healing. We observed a mean reduction in the size of the lesions, measured on plain X-rays, of 68%. The complications that were observed included the following: dizziness after injection, skin pigmentation at the injection site, local inflammatory reaction, and pain after injection. The current study approves the importance of this minimally invasive treatment with no recurrence after a follow-up of 19 months. The healing rate was 100%. A limitation of this study consists in the small number of patients. CONCLUSION: Sclerotherapy with ethanol 96% is a useful method for the treatment of ABC. It is a minimally invasive method, with no major complications, which lowers the risks of open surgical intervention and has a good rate of success.

Aggressive development of an aneurysmal bone cyst of the proximal femur in a paediatric patient: a case report.

We report development of an aneurysmal bone cyst (ABC) that was located in the proximal region of the femur in an 11-year-old girl. Over a period of 30 weeks, the ABC showed fulminant local progression, with destruction of the bone, which led to an abrupt loss of function of the left hip. The standard tumour treatment protocol was followed. We performed embolisation of the tumour followed by a biopsy, which confirmed the diagnosis of ABC. The outcome was negative with total destruction of the proximal third of the femur, despite repeating the embolisation. Because of the unfavourable local progression, a second biopsy was performed and we reconfirmed the initial diagnosis. The final decision regarding the therapeutic approach was total hip arthroplasty with femoral reconstruction with a prosthesis. Following this treatment, the patient's outcome was favourable, with complete recovery of function and no local relapse.

Outcome of pinning in patients with slipped capital femoral epiphysis: risk factors associated with avascular necrosis, chondrolysis, and femoral impingement.

Objective This study aimed to assess the principal risk factors that could lead to the most common long-term complications of slipped capital femoral epiphysis, such as avascular necrosis, chondrolysis, and hip impingement. Methods We conducted a single-centre, retrospective study and evaluated patients (70 patients, 81 hips) who were treated for slipped capital femoral epiphysis from 2010 to 2015 and who underwent pinning. We measured the severity of displacement radiologically using the Southwick angle. Postoperative radiographs were evaluated for the most frequent long-term complications of avascular necrosis (AVN), chondrolysis, and femoral acetabular impingement (FAI). Results We found seven cases of AVN, 14 cases of chondrolysis, and 31 hips had an α angle of 60°. Sex, ambulation, and symptoms did not affect development of these complications. Patients with a normal weight were almost two times more likely to develop FAI. Patients with moderate and severe slips had a similar percentage of AVN. In severe slips, 85.7% of patients had an α angle higher than 60°. Conclusions This study shows that severe slips have a higher risk of developing AVN and hip impingement. Every patient who suffers from SCFE (even the mildest forms) should be regularly checked for FAI.

Surgical Treatment of an Aneurysmal Bone Cyst with Avascular Bone Graft.

Background: Aneurysmal bone cyst is a solitary bone tumor, expansile and lytic most often seen in the second decade of life, more frequently in men than in women (2: 1). They can occur in any bone, most common in the metaphysis of the long bones of the lower limbs. Although it is a benign tumor formation, aneurysmal cysts may have an aggressive local evolution and can cause a significant decrease in bone strength. The pacient may present local pain, the appearance of local deformation due to a tumor mass or occurrence of pathological fractures. Traditionally these lesions were treated surgically (curettage or resection and bone grafting) with a relapse rate of about 20%. Because bone resection may lead to bone defects, deformations or damage in the affected limb's function, lately the preferred treatement percutaneous sclerotherapy using fibrosing alcoholic agents. CASE REPORT: We present the case of a 14 year old pacient submitted for pain and deformity at the distal third of the right forearm with insidious onset and exacerbated lately. Following clinical investigations, laboratory and histopathology he was diagnosed with aneurysmal bone cyst of the right ulna. Since sclerotherapy is not available in our clinic, we initially performed an excisional biopsy with curettage of the lesion. Because the tumor still had an aggressive postoperative evolution, we decided for a bone resection and reconstruction using an avascular peroneal graft. Postoperative, the patient presents a favorable short and medium term evolution, the disappearance of pain and resumed function of the affected segment. Radiologically bone graft integration can be observed, with no evidence of local recurrence. CONCLUSION: Although modern tehniques for treating anurysmal bone cyst include either injecting fibrosing alcoholic agents or resection and grafting using vascular bone graft, the traditional tehnique described by Merle d'Aubigne which implies the usage of avascular bone graft is still heplful, leading to succesful results especially in the upper limbs.

Surgical Treatment of a Rare "Reverse" Madelung Deformity in 11 Years Female Patient.

Madelung deformity is an abnormality of the distal part of the forearm due to a growth arrest in the distal radial physis creating an increase of the radial tilt angle associated with a dorsal subluxation of the distal ulna in most cases. It is a rare condition which represents only 1.7% of hand deformities being characterized by the presence of an abnormal structure, Vickers ligament, that tethers the distal radius to the lunate bone. Although it is believed to be a congenital disorder, the symptoms are absent till late childhood. We present a case of a 11 years old girl patient, who came to our clinic for deformity of both forearms, which consisted of an anteriorly curved radius, volar proeminence of the distal ulna, partial limitation of supination and pain in the last 6 months, with and insidious onsed and aggravated lately. The mother of the patient, at the age of 13, was diagnosed with the same deformity which was surgically treated at that time. Furthermore, the patient has an older sister with no deformity of the forearms. X-rays revealed an increased radial tilt and anterior luxation of the distal ulna. Considering the deformity and the presence of pain we decided to excise the Vickers ligament and make an opening and derotation wedge osteotomy of the distal radius.