[McCune-Albright syndrome: a case report and literature review]. / Syndrome de McCune-Albright : à propos d'un cas et revue de la littérature.

McCune-Albright syndrome is an inherited disease characterized by the association of fibrous dystrophy of bone, café-au-lait skin spots and precocious puberty revealing endocrine hyperactivity. Genetically, this disease is due to a mutation of the Gs protein responsible for activation of adenylate cyclase with excessive production of cAMP. The particular morphology of café-au-lait spots should suggest early diagnosis. Its treatment depends on the endocrinopathy from which the patient suffers and the extent of the fibrous dysplasia. Bisphosphonates have proven their effectiveness on bone pain and the limitation of fibrous dysplasia. Surgery retains its place in complicated forms. We report a rare case of McCune-Albright syndrome complicated by a femur fracture in a 12-year-old girl and we discuss the clinical and paraclinical characteristics of this pathological entity.

Establishment of an Animal Model of Disk Degeneration by Intradiskal Injection of Monosodium Iodoacetate.

BACKGROUND: Disk degeneration (DD) stands for the most common cause of low back pain. The establishment of an animal model plays an intrinsic role in the clarification of the physiopathology of DD. The purpose of this study is to select an optimal dose of monosodium iodoacetate (MIA) that may generate a reliable model of DD. METHODS: Thirty-four rats were used in this study. The disks (Co7/8, Co8/9, and Co 9/10) received 1 shot of intradiskal injection of 0.02 mg, 0.1 mg, and 0.5 mg of MIA solution, respectively. Half of the rats were euthanized 3 weeks after MIA injection, and the other half 6 weeks after injection. RESULTS: Magnetic resonance imaging evaluation showed that the mean T2-weighted signal intensity at 6 weeks decreased significantly in the 0.1 and 0.5 mg groups. The disk height of the control group was significantly higher than those of the 0.1 mg and 0.5 mg groups. Histologic and macroscopic results revealed time-and-dose-depending degeneration in the disks that received MIA. Additionally, MIA produced cell death in the nucleus pulposus cells with an elevated percentage. The injected disk with 0.1 mg MIA demonstrated a progressive degeneration, the disk injected with 0.5 mg MIA induced DD acutely 3 weeks post MIA injection, while the dose of 0.02 mg of MIA did not show much degeneration. CONCLUSIONS: We concluded that 0.1 mg MIA is the most suitable dose to establish a model of DD, which enabled us to replicate the onset, progression, and outcome of diverse histopathologies of DD in the clinic.

Congenital syndactyly: a retrospective study of 18 cases at the Department of Orthopaedic Surgery and Traumatology of the Habib Bourguiba University Hospital, Sfax, Tunisia.

Congenital syndactylies are frequent congenital malformations of the hand. They can be an isolated finding or they can be found in association with other polymalformative syndromes. Several surgical techniques used to treat them have been described in the literature. The most used is the dorsal commissural omega-flap technique. We here report a study of 18 patients with congenital syndactyly, with multiple involvement in several cases, whose data were collected at the Department of Orthopedics and Traumatology of Sfax (Tunisia). All patients were operated using the dorsal commissural omega-flap technique. We operated 42 commissures in 18 patients. The average age of patients was 7 years. Only 3 patients had syndromic forms. Six of these patients were operated in two stages. For scar quality, mean OSAS score was 11.47 (11.35 for simple types and 12 for complex types). All patients with complex types had long-term complications (100%). Six patients with simple types out of 14 had complications (42.85%). The management of congenital syndactylies is surgical. It is important to provide parents with accurate information on the essential role of follow-up appointments in order to avoid complications in the short and the long term.

[Subungual exoxtosis: case report and literature review]. / Exostose sous-unguéale: à propos d'un cas et revue de la littérature.

Subungual exostosis is a benign, uncommon osteocartilaginous tumour that tends to recur. We here report the case of a 17-year boy with subungual exostosis, who reported a history of trauma. Treatment was based on direct surgery. The tumor was completely excised. The postoperative course was uneventful, with no recurrence identified.

[Acute osteomyelitis caused by community-acquired methicillin-resistant Staphylococcus aureus in children: about 15 cases]. / L´ostéomyélite aiguë à Staphylocoque aureus résistant à la méthicilline d´origine communautaire chez l´enfant: à propos de 15 cas.

The treatment of acute osteomyelitis is becoming more challenging since the emergence of community-acquired methicillin-resistant Staphylococcus aureus. We collected data on all patients with acute osteomyelitis caused by this germ over a period of 21 years (January 1995-December 2016) and we analyzed the peculiarities of this disorder. Our case series includes 15 children, with an average age of 9 years. All patients had affected lower limb. Local trauma was reported in 8 cases and skin carriage in 4 cases. Acute onset was reported in 12 cases associated with pseudo-paralysis of the affected limb. One patient had Staphylococcus aureus pulmonary infection with signs of septicopyemia. Blood culture was positive in 8 cases. In one case PCR assay for detection of Panton-Valentine leukocidin was performed with positive result. All these patients underwent surgical debridement and received secondarily adapted empirical antibiotic therapy. Outcome was good in 8 cases and poor in the other cases, with transition to a chronic state in 6 cases and one case of death. Pathological fracture was reported in 3 cases. Osteomyelitis cause by community-acquired methicillin-resistant Staphylococcus aureus is associated with a pejorative outcome. Recognizing the clinical and paraclinical signs of these infections is essential for a specific and early therapeutic management.

The effectiveness of platelet-rich plasma gel on full-thickness cartilage defect repair in a rabbit model.

AIMS: The present study investigates the effectiveness of platelet-rich plasma (PRP) gel without adjunct to induce cartilage regeneration in large osteochondral defects in a rabbit model. METHODS: A bilateral osteochondral defect was created in the femoral trochlear groove of 14 New Zealand white rabbits. The right knees were filled with PRP gel and the contralateral knees remained untreated and served as control sides. Some animals were killed at week 3 and others at week 12 postoperatively. The joints were harvested and assessed by Magnetic Resonance Observation of Cartilage Repair Tissue (MOCART) MRI scoring system, and examined using the International Cartilage Repair Society (ICRS) macroscopic and ICRS histological scoring systems. Additionally, the collagen type II content was evaluated by the immunohistochemical staining. RESULTS: After 12 weeks post-surgery, the defects of the PRP group were repaired by hyaline cartilage-like tissue. However, incomplete cartilage regeneration was observed in the PRP group for three weeks. The control groups showed fibrocartilaginous or fibrous tissue, respectively, at each timepoint. CONCLUSION: Our study proved that the use of PRP gel without any adjuncts could successfully produce a good healing response and resurface the osteochondral defect with a better quality of cartilage in a rabbit model. Cite this article: Bone Joint Res 2021;10(3):192-202.

Continuous external compression for the treatment of humeral pseudarthrosis: a single center experience.

Humeral pseudarthrosis are common with a non-union rate after fracture between 8% and 13%. Several operative methods have been described for the treatment of humeral pseudarthrosis. The aim of this study was to assess a new approach based on compression using a monoplane external fixator without graft. This study was conducted in the Department of Orthopedic Surgery, and Traumatology of Habib Bourguiba University Hospital in Sfax-Tunisia between April 2009 and September 2018. Fifty-eight patients were operated on using a dynamic monoplane axial fixation device with continuous compression by manipulating the compression system of the fixator. All the cases were evaluated according to the modified Stewart and Hundley classification. The fracture was located in the middle third in 53.4% of the cases. The pseudarthrosis was hypertrophic in 34.5% of the cases. Fifty-four patients were treated with this method as a first cure of non-union and four patients had previously a first cure for their pseudarthrosis. We noted 11 septic pseudarthrosis. The average follow-up was 47.2 months. We obtained consolidation in 98% of the cases. The average consolidation time was 5.1 months. Based on the modified Stewart and Hundley criteria, 75.8% had very good results. This study highlights that a continuous external compression is effective in the treatment of non-unions, as it allows consolidation without opening the pseudarthrosis site and without bone grafting while having satisfactory anatomical and functional results.

[Clubfoot in adult patients treated with tibiocalcaneal arthrodesis: about two cases (3 feet)]. / Pied varus équin de l'adulte traité par arthrodèse tibiocalcanéenne: à propos de deux cas (3 pieds).

Inveterate clubfoot (inveterate talipes equinovarus, ITEV) is a vicious attitude of the foot which doesn't rest on the floor through its normal base of support but weight is thrown to the outer side of the foot and to the foot point. When this vicious attitude persists a long time, it results in severe osteoarticular deformities in adults. Fixed ITEV is a good indication for tibiocalcaneal arthrodesis. In the majority of cases this provides painless and stable plantigrade foot. This study aims to assess the clinical and radiological outcomes of astragalectomy with tibiocalcaneal fusion. This case series involves 2 adult patients undergoing tibiocalcaneal arthrodesis due to severe and annoying equinovarus rearfoot deformity. Outcome was satisfactory with painless and stable plantigrade foot. At 90-day follow-up the patient with bilateral clubfoot had no inequality while the patient with unilateral clubfoot had a shortening of 2 cm compensated by right sole. In the majority of cases with severe and fixed deformities of the ankle and of the ITEV, tibiocalcaneal arthrodesis allows for painless and stable plantigrade foot, without vascular or cutaneous risk.

[Post-traumatic carpo-metacarpal arthrosis of the fifth finger treated with stabilized arthroplasty: about two cases and literature review]. / Arthrose post-traumatique carpo-métacarpienne du cinquième doigt traitée par arthroplastie stabilisée: à propos de deux cas et revue de la littérature.

Old fractures and dislocations of the base of the fifth metacarpal may result in post-traumatic arthrosis which is troublesome from a functional point of view and characterized by a difficult management. Stabilized arthroplasty is based on arthroplastic resection of the base of the fifth metacarpal associated with lateral diaphysometaphyseal arthrodesis between the fourth and the fifth metacarpal. This study involving two patients aimed to describe the advantages and the peculiarities of stabilized arthroplasty compared to other techniques in the treatment of the sequelae of fractures and dislocations of the base of the fifth metacarpal.

The periosteum-like effect of fresh human amniotic membrane on bone regeneration in a rabbit critical-sized defect model.

OBJECTIVE: The purpose of this study was to investigate the effect of fresh human amniotic membrane (FHAM) as a substitute of periosteum to enhance bone regeneration in critical-sized defects. METHODS: Tibial diaphyseal bone defects were created in forty New Zealand white rabbits and treated with FHAM or left empty. Treatment groups consisted of: FHAM implanted in the place of removed periosteum (FHAMP group); FHFAM implanted to fill the entire defect (FHAMF group) compared to negative control group; empty defect with removing the periosteum (NC group) and positive control group; and empty defect without removing the periosteum (PC group). Bone regeneration was evaluated by radiographic, micro-computed tomography (µ-CT) and histological analyses at 4 and 8weeks post-surgery. RESULTS: Radiographic and µ-CT analysis demonstrated clearly enhanced new bone formation in positive control group (PC) and FHAMP group compared to negative control group (NC) and FHAMF group. Histological staining exhibited remaining woven bones and cartilage matrix in the FHAMP group, immature lamellar bone with medellury cavity and marrow bone formation in PC group from 4weeks post-operatively. For FHAMF group, a little new bone formation was detected only from 8weeks post-operatively, and an absence of any sign of healing in NC group at both time points. CONCLUSION: The results provide that FHAM increases bone regeneration in critical-sized defects when it is implanted in the place of the removed periosteum, but its additive effect does not have the same effect of the natural periosteum.

Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients.

Apoptosis of skeletal muscle fibers is a well-known event occurring in patients suffering from muscular dystrophies. In this study, we hypothesized that functional polymorphisms in genes involved in the mitochondrial apoptotic pathway might modulate the apoptotic capacity underlying the muscle loss and contributing to intrafamilial and interfamilial variable phenotypes in LGMD2C (Limb Girdle Muscular Dystrophy type 2C) patients sharing the same c.521delT mutation in SGCG gene. Detection of apoptosis was confirmed on muscle biopsies taken from LGMD2C patients using the TUNEL method. We genotyped then ten potentially functional SNPs in TP53, BCL-2 and BAX genes involved in the mitochondrial apoptotic pathway. Potential genotype-dependent Bcl-2 and p53 protein expressed in skeletal muscle was investigated using western blot and ELISA assays. The result showed that muscle cells carrying the TP53-R72R and TP53-16 bp del/del genotypes displayed an increased p53 level which could be more effective in inducing apoptosis by activation of the pro-apoptotic gene expression. In addition, the BCL2-938 AA genotype was associated with increased Bcl-2 protein expression in muscle from LGMD2C patients compared to -938CC genotype, while there was no evidence of significant difference in the BAX haplotype. Our findings suggest that increased Bcl-2 protein expression may counteract pro-apoptotic pathways and thus reduce the muscle loss. To the best of our knowledge, this is a pioneer study evaluating the role of apoptotic BCL-2 and TP53 genes in contributing to the phenotypic manifestation of c.521delT mutation in LGMD2C patients. Larger studies are needed to validate these findings.

Fibrodysplasia ossificans progressiva: diagnosis and surgical management.

Fibrodysplasia (or Myositis) Ossificans Progressiva (FOP) is a rare genetic disease with variable expression, characterized by the association of congenital anomalies of the toes and fingers and progressive appearance of ectopic bone within the skeletal muscles, often following a trauma or an infection. FOP initially affects the nape and thoracic paravertebral muscles. With age, there is a progression of ossifications to other muscular groups following a proximodistal and cranio-caudal extension. Patients develop a restrictive respiratory insufficiency with atelectasis. The diagnosis of FOP is clinical and does not require biopsy. Circumscribed post-traumatic ossifying myositis is the most important differential diagnosis. It is characterized by the appearance of painful ossifications, in young adults, following a trauma and is limited to one localisation. The conservative treatment of FOP remains unsatisfactory. Surgical removal of osteomas to restore joint mobility leads to the development of additional heterotopic ossifications. Each surgical attempt brings about a quasi-inevitable recurrence. Anaesthesia of patients with FOP is difficult because of spinal rigidity and ankylosis of the jaw. Surgery is indicated only with a focused indication to correct an invalidating deformity.

[Orthopaedic manifestations of Von Recklinghausen's neurofibromatosis]. / Manifestations orthopédiques de la neurofibromatose de Von Recklinghausen.

OBJECTIVE: Von Recklinghausen's neurofibromatosis is a dominant autosomic genetic disease characterized by different clinical manifestations. The goal of this work was to study its orthopaedic manifestations and to show the characteristics of their management. METHOD: A retrospective study was carried out on 15 patients having a Von Recklinghausen's neurofibromatosis. For each patient, different orthopaedic manifestations and their evolution after treatment were analyzed. These manifestations were classified in spinal deformities, pseudarthrosis of long bones and tumours of the peripheral nerves. RESULTS: The spinal deformities were observed in 9 cases. A dystrophic scoliosis was observed in 6 patients with an average angle of 50° and was associated to a kyphosis in 5 patients. The treatment was surgical by posterior arthrodesis in 2 cases and circumferential arthrodesis in 2 cases. The congenital curves and pseudarthroses of leg were observed in 5 cases, localized at the lower third of the leg in all cases. An Ilizarov external fixator with segmental osseous transport was carried out in 2 patients. The duration of the external fixator was 23 months ½ with 5 interventions in each case. Four plexiform neurofibromas and 3 nodular neurofibromas were observed. A transformation into neurofibrosarcoma was found in 2 patients. In one case, a resection without functional sacrifice was carried out and in the other case the patient was dead before the resection. CONCLUSION: The orthopaedic manifestations of Von Recklinghausen's neurofibromatosis are frequent, varied and have a difficult management. The functional and sometimes vital prognoses are challenging.

Treatment of congenital pseudarthrosis of the fibula by periosteal flap.

Pseudarthroses of the fibula are frequently associated with a pseudarthrosis of the tibia, but they can be isolated. To treat them it is usually necessary to have ankle alignment at skeletal maturity. We report six cases of fibular pseudarthrosis treated with periosteal flap, all having Recklinghausen's neurofibromatosis type 1. The mean age at the time of treatment was 4 years. Four children were diagnosed with isolated congenital pseudarthrosis of the fibula, with a simple curvature of the tibia, and two children had an associated pseudarthrosis of the tibia that was treated earlier. Treatment of the pseudarthrosis of the fibula was indicated to prevent a fracture of a curved tibia or to prevent ankle valgus. The technique of periosteal flap was different: in one case, the periosteum was taken from the fibular diaphysis as a free pedicled flap; in two cases, the flap was taken with its proximal pedicle; and in three cases, the flap was taken from the fibular diaphysis with its distal pedicle and returned to the pseudarthrosis. We analyzed the different operative techniques used for each patient, the complications and the functional result to follow-up. We did not use any osteosynthesis in two cases; a centro-medullary wire and a screwed plate were used in two cases. The pseudarthrosis healed in four cases in a mean period of 10 months. Healing was faster in the cases treated with distal pedicled returned periosteal flaps, a relatively simple technique not requiring vascular sutures. The distal pedicled returned periosteal flap permits good mobility of the periosteum and gives the best healing times. This treatment is indicated for young children to prevent a fracture and a pseudarthrosis of a dysplastic or congenital curvature of the tibia, or after treatment of congenital pseudarthrosis of the leg after healing of the tibia to prevent ankle instability and severe ankle valgus formation.

A rare Wilkins group II fracture of the proximal radial metaphysis.

In this study, we report a rare fracture of the proximal radial metaphysis in an 11-year-old child, involving an anterior displacement of the proximal radial metaphysis instead of a displacement of the epiphysis, which preserved its normal connections with the capitellum. This fracture was successfully treated by closed reduction and wire fixation. The reduction maneuver attempted to reduce the proximal radial metaphysis under the epiphysis instead of doing the opposite. The mechanism of this injury is probably an extension strain on a forearm in pronation associated with a violent contraction of the biceps brachialis muscle. This fracture is considered as a rare example of Wilkins group II angular fracture of the proximal radial metaphysis, without proximal ulnar fracture.

Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children.

BACKGROUND: To better understand anatomical and functional outcomes of coxa vara in chondrodysplasia according to the initial presenting hip morphology, disease type, and impact of surgery. METHODS: Clinical and radiographic records of 19 children (35 hips) diagnosed with coxa vara and with osteochondrodysplasia were reviewed. We classified the hip radiographic findings into 2 groups: (a) group I, coxa vara with a fragmented and/or nonossified head; and (b) group II, coxa vara with a regular femoral head. Surgical indications in coxa vara included decreased range of hip motion (usually diminished abduction, extension, and internal rotation), coxa vara with progression documented on regular follow-up hip radiographs, and/or severe coxa vara with a Hilgenreiner epiphyseal angle (HEA) of 60 degrees or more. Follow-up was until the completion of growth and, for some patients, into early adulthood. Mean follow-up was 8 years. RESULTS: Twenty-five hips were operated on in 13 patients. In 23 hips, the procedure was a valgus osteotomy fixed by pins and wire. A pelvic extension osteotomy without valgus osteotomy was performed in one patient (2 hips). Coxa vara recurred in 7 hips. In 4 of these hips, repeat surgery with hypervalgus osteotomy was indicated to stop epiphyseal slipping (3 hips) or to improve the arc of motion (1 hip). Functional outcomes were poor in coxa vara associated with poor epiphyseal development (nonossified or fragmented epiphysis) as seen in spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia, Kniest disease, and multiple epiphyseal dysplasia. Coxa vara with physeal instability as observed in spondylometaphyseal dysplasia resulted in deformity recurrence postoperatively during growth. In contrast, outcome was better in cases of coxa vara with nonphyseal/nonepiphyseal involvement, that is, good femoral head morphology, stable physis, and good articular cartilage, as seen in cases of metaphyseal dysplasia and cleidocranial dysplasia. CONCLUSIONS: Coxa vara with physeal and epiphyseal involvement and severe impairment of the articular cartilage has a poor prognosis even after reconstructive surgery. In coxa vara with an abnormal physis, there were numerous postsurgical recurrences of the deformity during growth if the physis was not stabilized at the time of valgus osteotomy. In these cases, we should delay osteotomy until an HEA greater than 60 degrees. Coxa vara in which only the metaphysis of the femoral neck is involved, the deformity is milder and often requires no treatment. Indications for surgery in this group are increasing coxa vara, Trendelenburg gait, or an HEA greater than 60 degrees.