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.

Developmental Dysplasia of the Hip: How Many Risk Factors Are Needed?

Developmental dysplasia of the hip (DDH) is a progressive condition that lacks clear diagnostic and management protocols, due to insufficient data. While some advocate for universal screening, others recommend using risk factors as landmarks. In this study, we aimed to assess the risk factors associated with DDH incidence among a large population. We conducted a retrospective single-center multifactorial study between January 2019 and March 2022, including 3720 children who were investigated anamnestically, clinically, and through an ultrasound scan. We classified them into two groups: the control group with 3300 healthy children and the study group with 420 newborns diagnosed with DDH. Our analysis identified several risk factors associated with DDH, including gender, prematurity, non-vertex birth presentation, oligohydramnios, gestational diabetes, maternal hypertension, family history, associated deformities, and swaddling. We found that every DDH patient had at least two risk factors. Based on our findings, we recommend that children who present two or more risk factors for DDH be mandatorily evaluated sonographically, as well as children with clinical signs. DDH screening is recommended for each newborn for the long-term benefits of early detection and treatment.

The Role of Arthroereisis in Improving Sports Performance, Foot Aesthetics and Quality of Life in Children and Adolescents with Flexible Flatfoot.

Flexible flatfoot represents one of the most common deformities of the lower limb, affecting children and adolescents. Aesthetic aspect, abnormal gait, pain and fatigue are by far the most important symptoms which determine parents to bring their children to the orthopedist. We set out to conduct a prospective study, case-controlled, including patients with symptomatic flexible flatfeet operated on by arthroereisis surgery and comparing them to a normal feet group of children age- and sex-matched (control group). Minimum follow-up time was 2 years. In total, 33 patients with bilateral arthroereisis were included and 36 patients formed the control group (12.12 +/− 1.85 years vs. 11.81 ± 2.40 years, p = 0.54). Quality of life improved postoperatively (p = 0.18) and was not different from the control group. Median running time improved postoperatively by 2.25 s (p < 0.0001) and got closer to the median running time from the control group (22.30 s compared to 20.94 s, p = 0.01). All radiological angles improved (p < 0.0001), but quality of life improvement was correlated with talonavicular coverage angle and Meary angle measurements. Flatfoot in children and adolescents may be a condition in which the quality of life and sports performance are decreased, compared to healthy children. Arthroereisis is a minimally invasive surgical procedure with a short recovery time and a short period before resumption of sport activities, which can be useful in certain types of flexible flatfoot due to its effectiveness on symptom reduction.

Quality of Life Evaluation Using SRS-30 Score for Operated Children and Adolescent Idiopathic Scoliosis.

Background and objective: Adolescent idiopathic scoliosis (A.I.S.) is a disorder with a significant impact on health and self-image. This spinal deformity can affect between 2% and 4% of the adolescent population and may alter one's quality of life. This study aims to assess the patient outcome, satisfaction, and quality of life following surgical treatment using the SRS-30 questionnaire. Materials and Methods: A number of 49 children and adolescent patients diagnosed with idiopathic scoliosis that had surgery were included in this study. They thoroughly completed the SRS-30 questionnaire before and after the surgery, based on which data analysis was carried on. Correlations between the test results and imagistic data (pre- and postoperative Cobb angle, correction rate of Cobb angle, number of instrumented spinal segments, and number of pedicle screws/laminar hooks used in the surgery) were performed. Results: Our results showed that 87.76% of the patients were girls, and the mean age at surgery was 14.83 years. Postoperatively, the Cobb angle improved significantly (p < 0.0001). The questionnaire domain "Satisfaction with management" improved dramatically after surgery, averaging 13.65 points (91% out of the maximum score). The average postoperative test score was 125.1 points. Statistically significant correlations were found between the correction rate and SRS-30 score improvement (p < 0.001), in total as well as per each domain of the survey, respectively. Comparing the questionnaire domains, "Self-image" was positively correlated with "Satisfaction with management" (p < 0.0001). Conclusions: Better correction rate led to higher values of SRS-30 score. Additionally, the younger the age at surgery is, the higher the score. The number of instrumented spinal segments does not alter the quality of life. Overall, the most crucial factor influencing patient satisfaction after surgical treatment is self-image.

A Prospective Cohort Study on Quality of Life among the Pediatric Population after Surgery for Recurrent Patellar Dislocation.

Patellofemoral instability is a frequent cause of knee pathology affecting quality of life among the pediatric population. Here, we present a prospective cohort study which included patients who had undergone surgical management using the lateral release and medial imbrication approach (LRMI) or medial patellofemoral ligament reconstruction (MPFL-R). The object of this study was to assess the quality of life among children that have undergone surgical treatment for patellar dislocation. Quality of life was assessed before and after surgery using the Pediatric International Knee Documentation Committee form (Pedi-IKDC), a questionnaire that aims to quantify knee functionality. Postoperative scarring was evaluated using The Stony Brook Scar Evaluation Scale. One hundred and eight patients were selected and grouped according to the type of procedure. Before surgery, the two groups had similar mean Pedi-IKDC scores (41,4 MPFL-R vs. 39,4 LRMI p = 0.314). Improvements were observed in the postoperative scores. The MPFL-R technique showed promising outcomes. When comparing the two surgical groups, there was a significant difference in favor of MPFL-R group (MPFL-R 77.71 points vs. LRMI 59.74 points, p < 0.0001-95% CI (11.22-24.72)). Using the Stony Brook Scar Evaluation Scale, a significant difference in scar quality in favor of MPFL-R was observed (4,5 MPFL-R vs. 2,77 LRMI p = 0.002). In conclusion, this study provides objective evidence-based outcome assessments that support the medial patellofemoral ligament reconstruction technique as the gold standard for patellofemoral instability.

Quality of Life after Flatfoot Surgery in the Pediatric Population.

Flatfoot is a common deformity in the pediatric population and has a multitude of causes. Sometimes, it can be a normal finding in children, and treatment should not be guided only based on the appearance, but rather after thoroughly assessing the patient and the impact it has on the child's daily life. In this paper, we describe the quality of life that the patients are experiencing after the surgical treatment of this pathology. We made a comparison between the most used techniques for correcting flatfoot and insisted on the postoperative comfort of the patient, rehabilitation, and the time it took to get back to their daily routine. The comparison was made between Mosca calcaneal lengthening osteotomy, Grice extraarticular arthrodesis, arthroereisis and triple arthrodesis of the foot. All of the surgeries were performed by the same doctor at "Grigore Alexandrescu" Emergency Hospital for Children in Bucharest. From the data collected, we propose that newer, minimally invasive techniques could be used in treating this pathology in order to help the patient feel better in the postoperative period and avoid some of the complications regularly encountered when using the old techniques.

Revision Rates for Osteogenesis Imperfecta Patients Treated with Telescopic Nails. A follow-up Study After a 7-year Experience.

Osteogenesis imperfecta (OI) is a genetically determined systemic pathology that involves a disturbance in the synthesis of type one collagen and is mainly characterized by bone brittleness and other abnormalities. The musculoskeletal system is the most affected by bone fracture after mild mechanical stress occurs. Pathologic bowing appears without trauma, and hyperlaxity is jeopardizing joint stability. Having such an abrupt debut, some patients report in-utero fractures, and treatment is very challenging since surgery has to be postponed until the children grow and become good candidates for intramedullary nailing. In this paper, we discuss the experience of "Grigore Alexandrescu" Hospital for Children in treating these patients and the results we obtained regarding the revision surgeries that we had done. Revision surgery is mandatory for OI patients, and there are multiple factors in deciding to use an implant. We looked back at the data collected for those cases where revision was not related to infection, trauma, or disengagement of the male-female system due to the overlengthening of the implant. The conclusions made are comparable to other centers worldwide with respect to lower limb surgery, and we changed the management protocol according to the problems encountered.

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.

Clevidipine versus sodium nitroprusside in acute aortic dissection: A retrospective chart review.

AIM: Intravenous vasodilators are often added to beta-blocking agents to reach blood pressure (BP) goals in aortic dissection. Control of BP using clevidipine has been described in hypertensive emergencies and cardiac surgery but not in aortic dissection. The aim of this study was to compare clevidipine versus sodium nitroprusside (SNP) as adjunct agents to esmolol for BP management in aortic dissection. METHODS: A single-center retrospective chart review evaluated patients diagnosed with aortic dissection. The primary outcome measure was time to reach patient specific systolic blood pressure (SBPPT) goals after initiation of esmolol infusion. Efficacy of clevidipine and SNP was assessed using area under the curve analysis of positive and negative excursions outside of SBPPT goals (AUCSBPe). Cost data was calculated using average wholesale price in U.S. dollars. RESULTS: Fourteen patients were included in final analyses. Median systolic BP immediately prior to initiation of esmolol was 162mm Hg vs 161mm Hg for clevidipine and SNP groups, respectively (p=0.99). Median time to reach SBPPT goal was similar between clevidipine and SNP (1.68 versus 1.03h [p=0.99]). Median AUCSBPe was similar for clevidipine and SNP (206.9 versus 538.9 mm Hg∗min∗hr-1 [p=0.11]). Cost was significantly reduced using clevidipine versus SNP ($1223.28/day versus $7674.24/day [p<0.001]). CONCLUSIONS: Clevidipine administration during initial medical management of aortic dissection showed similar efficacy compared to SNP when used as adjunct therapy to esmolol. These data suggest clevidipine is a less costly, reasonable alternative to SNP in acute aortic dissection as adjunct therapy to esmolol. Further studies are needed to validate these results.

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.

Total Hip Replacement in Congenital Hip Dislocation in 14 Years Female Patient.

INTRODUCTION: development dysplasia of the hip is one of the common disorders in pediatric orthopaedics. This requires an early orthopaedic treatment. Neglected cases can lead to hip dislocation, which has an incidence of 1.4 / mille new-borns, being bilateral in 70-80% of cases and prevalence of girls being 7 / 1-4 / 1 (girls / boys). Congenital hip dislocation requires a complex surgical and orthopaedic treatment. In most cases develop hip osteoarthritis in adulthood, requiring total hip replacement. In certain selected cases total hip replacement is required since the pediatric age. METHODS: We present the case of a 14 year old patient who was admitted to our clinic for limping with leg-length discrepancy, pain in the right groin. The disease has an insidious onset at the start of the walking age. The treatment was denied until the age of 9, when was performed open reduction of the hip, shortening osteotomy of the femur, right hip adductor tenotomy muscles. Despite treatment the disease has an poor outcome, patient was presenting at age of 14 a shortening of the right leg 7 cm, with the greater trochanter elevated, positive Trendelenburg sign, limiting of daily activities, Harris score 48. We performed transkeletal traction for one month, after that performing total hip replacement. The postoperative evolution was excellent, the patient having no pain, with a 2 cm leg-length discrepancy, starting to walk at 3 month after surgery. CONCLUSIONS: Although total hip replacement in congenital hip dislocation at pediatric age is an exceptional procedure, in some cases carefully selected it proves to be a viable alternative in the medium term.