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1.
Med Educ Online ; 29(1): 2308955, 2024 Dec 31.
Article in English | MEDLINE | ID: mdl-38290044

ABSTRACT

The development of leadership skills has been the topic of several position statements over recent decades, and the need of medical leaders for a specific training was emphasized during the COVID-19 crisis, to enable them to adequately collaborate with governments, populations, civic society, organizations, and universities. However, differences persist as to the way such skills are taught, at which step of training, and to whom. From these observations and building on previous experience at the University of Ottawa, a team of medical professors from Lyon (France), Ottawa, and Montreal (Canada) universities decided to develop a specific medical leadership training program dedicated to faculty members taking on leadership responsibilities. This pilot training program was based on a holistic vision of a transformation model for leadership development, the underlying principle of which is that leaders are trained by leaders. All contributors were eminent French and Canadian stakeholders. The model was adapted to French faculty members, following an inner and outer analysis of their specific needs, both contextual and related to their time constraints. This pilot program, which included 10 faculty members from Lyon, was selected to favor interactivity and confidence in older to favor long-term collaborations between them and contribute to institutional changes from the inner; it combined several educational methods mixing interactive plenary sessions and simulation exercises during onescholar year. All the participants completed the program and expressed global satisfaction with it, validating its acceptability by the target. Future work will aim to develop the program, integrate evaluation criteria, and transform it into a graduating training.


Subject(s)
Curriculum , Leadership , Humans , Aged , Program Evaluation , Canada , Faculty , Faculty, Medical , Program Development
2.
Arthrosc Tech ; 12(7): e1145-e1154, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37533915

ABSTRACT

Combined anterior cruciate ligament and anterolateral ligament reconstruction (ACL+ALL r) is a common procedure to treat rotational instability and to prevent ACL graft failure. Recent studies have described numerous combined reconstruction techniques to obtain the most anatomical procedure with the least graft donor site morbidity and the best clinical results. Hamstring (HG) grafts are the most popular graft in literature. Leaving pedicle HG can preserve enough blood supply to improve tendon-bone healing with additional mechanical fixation of the graft on the tibial side. A single femoral tunnel reduces bone loss and prevents convergence of 2 femoral tunnels. We describe an original ACL and ALL reconstruction technique that preserves hamstring tibial insertion with a single blind femoral tunnel.

3.
Orthop Traumatol Surg Res ; 109(6): 103556, 2023 10.
Article in English | MEDLINE | ID: mdl-36682410

ABSTRACT

INTRODUCTION: The hamstring tendons (gracilis and semitendinosus) are often used as an autograft for anterior cruciate ligament (ACL) reconstruction. Healing of this graft involves a slow biological process called ligamentization. To encourage this process, some authors have proposed preserving the insertion of the hamstring tendons. HYPOTHESIS: Leaving the tibial insertion of the hamstring tendons intact will provide better early biological incorporation and superior tibial mechanical fixation resulting in various clinical advantages. MATERIALS AND METHODS: In January 2022, a systematic literature review was carried out independently by two authors of the Medline, PubMed and Embase databases. The keywords used were "pedicular" or "pedicled" or "preservation of tibial attachment" or "hamstring tibial insertion" AND "ACL reconstruction". Each author's data was analyzed separately. RESULTS: Sixteen articles were analyzed. Preserving the hamstring tibial insertion during ACL reconstruction improves the graft's biological incorporation during the initial postoperative phase according to clinical studies with MRI analysis and provides a mechanical advantage at the graft's tibial attachment according to biomechanical studies (construct up to 65% stiffer). There was no difference in the clinical and functional scores when compared to the conventional technique in which the hamstring tendons are detached from their tibial insertion. DISCUSSION: The main conclusion of this systematic literature review was that preserving the hamstring tibial insertion during ACL reconstruction appears to improve the graft's ligamentization with biological and mechanical advantages relative to detaching the hamstring tendons. The clinical and functional results were comparable to other techniques. Prospective studies with large cohorts are still needed to confirm these findings. LEVEL OF EVIDENCE: IV; Systematic review of literature.


Subject(s)
Anterior Cruciate Ligament Injuries , Hamstring Muscles , Hamstring Tendons , Humans , Hamstring Tendons/transplantation , Autografts , Prospective Studies , Anterior Cruciate Ligament Injuries/surgery , Transplantation, Autologous
4.
Arthrosc Tech ; 11(6): e1077-e1080, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35782855

ABSTRACT

Cuboid-navicular synchondrosis is a rare pathology that has historically been treated with open surgery. Open surgery poses complications and precludes satisfactory visibility during the operative treatment of these lesions. Arthroscopic portals typically limit the risk of complications and provide better visibility in small joints. We describe here an original technique of arthroscopic resection followed by cuboid-navicular arthrodesis.

6.
Orthop Traumatol Surg Res ; 108(6): 103270, 2022 10.
Article in English | MEDLINE | ID: mdl-35288325

ABSTRACT

INTRODUCTION: Anterior tibial intercondylar eminence fractures (ATIEF) of the knee are rare in children. They are associated with prefracture intraligamental distention of the anterior cruciate ligament (ACL). OBJECTIVE: The objective of this study was to evaluate the subjective and objective clinical results of an arthroscopic surgical technique by suture-fixation of the fracture and tensioning of the ACL through hollowing of the tibial footprint. HYPOTHESIS: Suture-tensioning of ATIEF arthroscopically helps to achieve treatment objectives by leaving the knee joint free of any hardware. MATERIALS AND METHODS: This single-operator monocentric retrospective study involved twenty children operated on over a period of 2-years and 10 months, from March 2013, and with a minimum of one-year follow-up. Surgery was indicated for Stage II to IV fractures according to the Meyers and McKeever classification. Type I fractures were excluded. Seventeen out of 20 patients were reviewed. The median age was 12 years at the time of surgery and the mean follow-up was 28 months. The fractures were 5 of stage II, 9 of III and 3 of IV. The scores of Lysholm, objective and subjective IKDC were collected. Residual objective laxity was measured using the GNRB arthrometer at 150N. A standard X-ray evaluation permitted detection of possible growth disorders. RESULTS: At 28 months of mean follow-up, the mean scores of Lysholm and subjective IKDC were 99 (95; 100) and 97 (92; 100), respectively. As for the objective IKDC, 14 knees were rated A and 3 were rated B. The mean differential residual laxity via GNRB was 0.94mm (0; 2.4). No radiological growth disorder was observed at the last follow-up. CONCLUSION: The ACL suture-tensioning technique is simple and reliable. It also preserves the joint of the adult to remain free of any residual hardware. LEVEL OF EVIDENCE: IV; retrospective cohort study.


Subject(s)
Anterior Cruciate Ligament Injuries , Tibial Fractures , Adult , Anterior Cruciate Ligament/surgery , Anterior Cruciate Ligament Injuries/surgery , Arthroscopy/methods , Child , Humans , Retrospective Studies , Suture Techniques , Sutures , Tibial Fractures/diagnostic imaging , Tibial Fractures/surgery , Treatment Outcome
7.
Orthop Traumatol Surg Res ; 107(6): 102890, 2021 10.
Article in English | MEDLINE | ID: mdl-33713874

ABSTRACT

BACKGROUND: Surgical treatment of osteochondral lesions of the talus (OLT) is warranted if medical treatments fail, achieving good results in around 85% of cases. Numerous classification systems, based on all possible imaging modalities (radiography, MRI, CT scan, scintigraphy, and CT arthrography), have been proposed to guide surgical treatments, but none has proven to be superior. A recent study demonstrated the prognostic value of CT arthrography by accurately describing the subchondral bone plate. A systematic review of the literature has brought new criteria to predict good outcome following bone marrow stimulation surgical techniques: lesions should measure less than 1 centimeter in size and 5 millimeters in depth. Based on these data, we are proposing a new simple, 3-stage CT arthrographic classification system of OLT. MATERIALS AND METHODS: After a brief overview of the classification, 60 CT-arthrographies of ankles with OLT were organized according to this new CT arthrographic classification system by four surgeons (two juniors and two seniors). Two imaging assessments were performed one month apart. Statistical analysis was performed using the Fleiss' kappa coefficient to determine the inter- and intraobserver agreement. RESULTS: An excellent inter- and intraobserver agreement was found with overall Fleiss' kappa coefficients of 0.897 and 0.847, respectively. CONCLUSION: The results of our study showed an excellent inter- and intraobserver agreement for this new CT arthrographic classification system of OLT. The principal advantage of this new classification system, based on the latest data in the literature, is its ability to easily distinguish lesions that are more amenable to bone marrow stimulation techniques. LEVEL OF EVIDENCE: II.


Subject(s)
Talus , Ankle Joint/diagnostic imaging , Arthrography , Magnetic Resonance Imaging , Talus/diagnostic imaging , Talus/surgery , Tomography, X-Ray Computed
8.
Orthop Traumatol Surg Res ; 107(1S): 102775, 2021 02.
Article in English | MEDLINE | ID: mdl-33321242

ABSTRACT

The menisci play a key role in knee biomechanics and long-term cartilage protection. Preserving the meniscus is thus a major functional consideration in children and adolescents. In normal menisci, lesions are traumatic in origin. They are often vertical, in the posterior segment, associated with anterior cruciate ligament tear. In abnormal menisci, lesions are much more specific to children, occurring atraumatically, mainly in discoid menisci. Clinical signs of traumatic meniscal lesion are minimal, and associated ligament involvement should be systematically screened for. In contrast, clinical findings are rich and specific in discoid malformative pathology, sometimes showing the typical "clunk" sign highly suggestive of a detachment. The complementary examination of choice is MRI. In children more than in adults, lesions need screening for in apparently normal menisci. This particularly concerns ramp lesions of the medial meniscus. It is important also to be aware of false signs, and notably linear hypersignal of vascular origin in the posterior segment of the medial meniscus. MRI is essential in determining type of tear and guiding surgery in discoid meniscal pathology. Indications for meniscal repair in children are maximal, even in lesions extending into the white zone, and the risk of failure needs to be assumed. All meniscal suture techniques - all-inside, in-out and out-in - need to be acquired. Meniscectomy, even partial, should be exceptional. Treatment of symptomatic discoid meniscus usually involves minimal central meniscoplasty and suture of the discovered lesion. Results of meniscal repair in children are generally very satisfactory, whatever the type or site of lesion. Vertical suture is to be preferred; suture failure is often only partial. In all, optimal treatment of meniscal pathology in children and adolescents requires perfect knowledge of pediatric specificities and above all mastery of repair techniques to restore meniscal tissue as fully as possible so as to conserve future knee function.


Subject(s)
Anterior Cruciate Ligament Injuries , Cartilage Diseases , Adolescent , Adult , Arthroscopy , Child , Humans , Meniscectomy , Menisci, Tibial/diagnostic imaging , Menisci, Tibial/surgery
9.
Front Med (Lausanne) ; 8: 817873, 2021.
Article in English | MEDLINE | ID: mdl-35111788

ABSTRACT

Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of the Rat Sarcoma/Mitogen-activated protein kinase (RAS/MAPK) pathway and characterized by short stature, heart defects, pectus excavatum, webbed neck, learning disabilities, cryptorchidism, and facial dysmorphia. Villonodular synovitis is a joint disorder most common in young adults characterized by an abnormal proliferation of the synovial membrane. Multifocal Villonodular synovitis is a rare disease whose recurrent nature can make its management particularly difficult. Currently, there is no systemic therapy recommended in diffuse and recurrent forms, especially because of the fear of long-term side effects in patients, who are usually young. Yet, tyrosine kinase inhibitors seem promising to reduce the effects of an aberrant colony stimulating factor-1 (CSF-1) production at the origin of the synovial nodule proliferation. We present here the case of a 21-year-old woman with NS associated to diffuse multifocal villonodular synovitis (DMVS). Our clinical case provides therapeutic experience in this very rare association. Indeed, in association with surgery, the patient improved considerably: she had complete daily life autonomy, knee joint amplitudes of 100° in flexion and 0° in extension and was able to walk for 10 min without any technical assistance. To our knowledge, this is the first case of a patient suffering from DMVS associated with a Noonan syndrome treated with Glivec® (oral administration at a dosage of 340 mg/m2 in children, until disease regression) on a long-term basis.

10.
J Mark Access Health Policy ; 8(1): 1810905, 2020 Aug 31.
Article in English | MEDLINE | ID: mdl-32944200

ABSTRACT

BACKGROUND: Organizational aspect is rarely considered in healthcare. However, it is gradually seen as one of the key aspects of the decision-making process as well as clinical and economic dimensions. Our primary objective was to identify criteria already used to assess the organizational impact of medical innovations. Our secondary objective was to structure them into an inventory to support decision-makers to select the relevant criteria for their complex decision-making issues. MATERIALS AND METHODS: A search using the Medline database was conducted in June 2019. The records published between January, 1990 and December, 2018 were identified. The publications cited by the authors of the included articles and the websites of health technology assessment agencies, units or learned societies identified during the search were also consulted. The identified criteria were structured in an inventory. RESULTS: We selected 107 records of a wide range of evidence mostly published after the 2000s. We identified 636 criteria that we classified into five categories: people, task, structure, technology, and surroundings. CONCLUSION: Criteria selection is a crucial step in any multi-criteria decision analysis (MCDA). This work is the first step in the development of a validated MCDA method to assess the organizational impact of medical innovations.

11.
J Mark Access Health Policy ; 7(1): 1659099, 2019.
Article in English | MEDLINE | ID: mdl-31552134

ABSTRACT

Background: Pain management in emergency departments is a complex objective. The absence of a care pathway or a high level of activity complicates diagnostic or analgesic therapeutic strategies. Medical innovation can impact both individual practices and the functioning of an emergency department. Objective: We then wanted to understand how medico-economic studies on pain were carried out in an emergency department. Study design: We reviewed the literature of the last 20 years (between 1998 and 2018). Setting: Of 846 titles screened, a total of 268 abstracts qualified for further screening, and 578 titles were excluded. A total of 14 studies qualified for inclusion in the review. Studies on medico-economics in an emergency department are very diverse. None of the methods used are identical; the studies differ in their very nature (prospective, retrospective, cost-effectiveness, etc.) and the determination of emergency room costs differs according to the part of the world studied. In addition, organizational impact is rarely measured, although it is an essential dimension for choosing or not a medical innovation.

12.
Surg Radiol Anat ; 41(7): 763-774, 2019 Jul.
Article in English | MEDLINE | ID: mdl-30944976

ABSTRACT

PURPOSE: The goal of this study was to evaluate the anatomy of the medial patellar retinaculum and the medial patellofemoral ligament (MPFL) to provide an anatomical validation of a pediatric reconstruction technique. METHODS: Fifteen knees were dissected to study the MPFL and its relationship with the medial patellar retinaculum and the femoral insertion of the medial collateral ligament (MCL). The distances between the insertions of the MPFL of eight knees, and the patellar insertion of the MPFL and the femoral insertion of the MCL of four knees, were measured during the flexion to evaluate the isometricity of the native and reconstructed MPFL. RESULTS: The medial patellar retinaculum includes four structures: the fascia, fibrous expansions of the vastus muscles, the MPFL and the medial patellomeniscal ligament. The femoral insertion of the MPFL was located just behind the femoral insertion of the MCL in 12 knees. During flexion, the distance between the insertion on the upper patella and the femoral insertion of the MPFL increased while the distance between the insertion on the lower patella and the femoral insertion of the MPFL decreased. The variation in the distances measured during the flexion was greater between the MPFL insertions (nsup = 6.5 mm, ninf = 6.5 mm) than between the patellar insertion of the MPFL and the femoral insertion of the MCL (n'sup = 2.5 mm, n'inf = 5.75 mm). CONCLUSION: The MPFL is not isometric. Even though the results were obtained from knees of elderly specimens, this study demonstrates reconstruction of the MPFL should take into account its anatomy and biomechanical role in the knee.


Subject(s)
Anatomic Variation , Ligaments, Articular/anatomy & histology , Patellofemoral Joint/anatomy & histology , Aged, 80 and over , Cadaver , Child , Dissection , Humans , Ligaments, Articular/injuries , Ligaments, Articular/surgery , Orthopedic Procedures/methods , Patellofemoral Joint/injuries , Patellofemoral Joint/surgery , Plastic Surgery Procedures/methods
13.
Orthop Traumatol Surg Res ; 104(8S): S175-S181, 2018 12.
Article in English | MEDLINE | ID: mdl-30269968

ABSTRACT

INTRODUCTION: We were interested in the consequences of anterior cruciate ligament (ACL) reconstruction on the growth plates and the impact on growth in children with open growth plates. The primary objective was related to growth disturbances with the null hypothesis being that ACL reconstruction in open growth plates does not cause any. The secondary objective related to the presence of physis lesions on MRI, with the null hypothesis being that ACL reconstruction in open growth plates does not induce any. MATERIAL AND METHODS: In the context of a 2017 SFA symposium on ACL reconstruction with open growth plates, we conducted a prospective multicenter study with 2 years' follow-up. The study enrolled 100 patients; 71 were available for analysis. Four reconstruction techniques were used: semitendinosus-gracilis (STG), short graft (SG), quadriceps tendon (QT) and fascia lata (FL). MRI was used to look for growth disturbances as evidenced by deviation of the Harris lines or modification of the physis and diaphysis angles. Physis lesions were determined on MRI based on the presence of physeal bone bridges (PBB). RESULTS: No growth disturbances were found. However, PBBs were found in 14 patients (20%). At the femur, the relative risk (RR) was higher when a STG graft was used (RR=2.1) and the tunnel diameter was≥9mm (RR=1.7). Epiphyseal fixation had a higher risk than transphyseal fixation (RR=1.6 vs. 1.2). At the tibia, the RR was higher when a QT graft was used (RR=3.6), when screw fixation was performed (RR=3.7) or when the graft did not fill the tunnel sufficiently (RR=1.5). DISCUSSION: The absence of growth disturbances after 2 years' follow-up validates the possibility of ACL reconstruction with open growth plates, including with transphyseal techniques. The presence of small growth plate lesions such as bone bridges means that precautions should be taken with respect to tunnel trajectory, tunnel diameter, graft and tunnel diameter matching and graft fixation. LEVEL OF EVIDENCE: III, prospective cohort study.


Subject(s)
Anterior Cruciate Ligament Injuries/surgery , Anterior Cruciate Ligament Reconstruction/adverse effects , Anterior Cruciate Ligament Reconstruction/methods , Growth Plate/diagnostic imaging , Growth Plate/growth & development , Magnetic Resonance Imaging , Adolescent , Anterior Cruciate Ligament Injuries/complications , Child , Epiphyses/diagnostic imaging , Female , Femur/diagnostic imaging , Follow-Up Studies , Humans , Male , Prospective Studies , Tendons/transplantation , Tibia/diagnostic imaging
14.
Orthop Traumatol Surg Res ; 104(8S): S183-S188, 2018 12.
Article in English | MEDLINE | ID: mdl-30253986

ABSTRACT

BACKGROUND: The primary objective of this study was to determine the time to and level of return to sports after anterior cruciate ligament (ACL) reconstruction in children and adolescents. The secondary objectives were to evaluate the risk of early ACL re-tear after return to sports and the risk of ACL tear in the contralateral knee. HYPOTHESIS: The time to return to sports in young patients is considerably longer than in adults. METHODS: A prospective multicentre study was conducted at 12 centres specialised in knee ligament surgery, in children and adolescents younger than 18 years, between 1 January 2015 and 31 October 2015. The patients were divided into a paediatric group with open physes and a skeletally mature group with closed physes. We recorded the time to return to sport, the type of sport resumed, and the occurrence of early re-tears on the same side. A poor outcome was defined as a re-tear or an objective IKDC score of C or D. A contralateral ACL tear was not considered a poor outcome. RESULTS: Of 278 included patients, 100 had open physes and 178 closed physes. In the open physes group, return to running occurred after 10.4±4.7 months, return to pivoting/contact sport training after 13.1±3.9 months, and return to pivoting/contact sport competitions after 13.8±3.8 months. Of the 100 patients, 80% returned to the same sport and 63.5% to pivoting/contact sport competitions. Re-tears occurred in 9% of patients, after 11.8±4.1 months, and contralateral tears in 6% of patients, after 17.2±4.4 months. In all, 19.4% of patients had a poor outcome, including 10.4% with an IKDC score of C or D and 9% with re-tears. In the group with closed physes, return to running occurred after 8.8±5.1 months, return to pivoting/contact sport training after 11.7±4.7 months, and return to pivoting/contact sport competitions after 12.3±4.2 months. Of the 178 patients, 76.9% returned to the same sport and 55.6% to pivoting/contact sport competitions. The re-tear rate was only 2.8% and the contralateral tear rate 5%. In all, 14.7% of patients had poor outcome, including 11.9% with an IKDC score of C or D and 2.8% with re-tears. No risk factors for re-tears were identified; the quadruple-bundle semitendinosus technique showed a non-significant association with re-tears. CONCLUSION: In young children, the return to sport time after ACL reconstruction is considerably longer than 1 year and the return to competitions occurs later and is more difficult. The results of this study indicate that reservations are in order when informing the family about return to sports prospects after ACL reconstruction. The return to pivoting/contact sport competitions should not be allowed until 14 months after surgery in young skeletally immature patients, and the risk of re-injury is high within the first 2 years. LEVEL OF EVIDENCE: IV, retrospective study.


Subject(s)
Anterior Cruciate Ligament Injuries/surgery , Anterior Cruciate Ligament Reconstruction , Growth Plate/physiology , Return to Sport , Adolescent , Adult , Anterior Cruciate Ligament Injuries/pathology , Anterior Cruciate Ligament Reconstruction/methods , Bone Development , Child , Child, Preschool , Female , Humans , Knee Joint/physiopathology , Male , Prospective Studies , Recurrence , Risk Factors , Running , Time Factors , Young Adult
15.
J Mark Access Health Policy ; 6(1): 1458575, 2018.
Article in English | MEDLINE | ID: mdl-29686802

ABSTRACT

Background: In France, a significant part of health expenditure is publicly funding. This put a heavy burden on society. In an economic context requiring tight control of public spending, it seems relevant to control the diffusion of medical innovations. That is why health technology assessment is subject to an increasing interest at national level for management and approval decisions. This article provides an overview of the assessment and diffusion of medical innovation in France. Method: The data are extracted from French authorities or organisations websites and documents and from French legislative texts. In addition, regarding discussion, a search in MEDLINE database was carried out. Results: An overview of the assessment and diffusion of medical innovation in France is given by presenting the different types of medical innovations according to French health system definition (I); introducing French authorities participating to health technology assessment and describe assessment procedures of medical innovations (II); and giving details about market access process of innovative health product in France (III). Key opportunities and challenges of medical innovation assessment and diffusion in France are discussed at the end of this article. Conclusion: In France, medical innovation is considered as a crucial component for quality of care and performance of healthcare system. The aim of health technology assessment is to promote a secure and timely access to innovation for patients. Nevertheless, it appears necessary to improve regulatory mechanisms.

16.
Infect Dis (Lond) ; 48(9): 699-702, 2016 Sep.
Article in English | MEDLINE | ID: mdl-27194514

ABSTRACT

Staphylococcus aureus is one of the main etiologies of bone and device-related infections. Treatment of these orthopedic infections combines mostly rifampicin with other antibiotics. The recurrence or failure rate after fusidic acid/rifampicin treatment remains low (<10%). We discuss here a case of antibiotic treatment failure for Staphylococcus aureus bone infection with in vivo selection of rifampicin and fusidic acid resistance. We also report a new mutation in fusA gene involved in fusidic acid resistance.


Subject(s)
Anti-Bacterial Agents , Bone Diseases, Infectious , Fusidic Acid , Rifampin , Staphylococcal Infections , Staphylococcus aureus , Adolescent , Anti-Bacterial Agents/pharmacology , Anti-Bacterial Agents/therapeutic use , Bone Diseases, Infectious/drug therapy , Bone Diseases, Infectious/microbiology , Drug Resistance, Bacterial/genetics , Fusidic Acid/pharmacology , Fusidic Acid/therapeutic use , Humans , Male , Rifampin/pharmacology , Rifampin/therapeutic use , Staphylococcal Infections/drug therapy , Staphylococcal Infections/microbiology , Staphylococcus aureus/drug effects , Staphylococcus aureus/genetics
17.
J Hum Genet ; 59(1): 57-9, 2014 Jan.
Article in English | MEDLINE | ID: mdl-24225993

ABSTRACT

Noonan syndrome (NS), an autosomal dominant multisystem disorder, is caused by the dysregulation of the RAS-MAPK pathway and is characterized by short stature, heart defects, pectus excavatum, webbed neck, learning problems, cryptorchidism and facial dysmorphism. We here present the clinical and molecular characterization of a family with NS and multiple giant cell lesions (MGCLs). The proband is a 12-year-old girl with NS and MGCL. Her mother shows typical NS without MGCL. Whole-exome sequencing of the girl, her mother and her healthy maternal grand parents revealed a previously unobserved mutation in exon 5 of the PTPN11 gene (c.598 A>T; p.N200Y), transmitted from the mother to the proband. As no other modification in the RAS-MAPK pathway genes as related to Rasopathies was detected in the proband, this report demonstrates for the first time that a unique mutation affecting this, otherwise unaffected signaling route, can cause both NS and NS/MGCL in the same family. This observation further confirms that NS/MGCL is not a distinct entity but rather that MGCL represents a rare complication of NS. Moreover, the localization of the p.N200Y mutation suggests an alternative molecular mechanism for the excessive phosphatase activity of the PTPN11-encoded protein.


Subject(s)
Giant Cells/pathology , Mutation , Noonan Syndrome/genetics , Noonan Syndrome/pathology , Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics , src Homology Domains/genetics , Biopsy , Child , DNA Mutational Analysis , Exome , Facies , Female , Humans , Male , Phenotype , Protein Tyrosine Phosphatase, Non-Receptor Type 11/chemistry , Synovial Membrane/metabolism , Synovial Membrane/pathology
18.
Am J Med Genet A ; 161A(10): 2645-51, 2013 Oct.
Article in English | MEDLINE | ID: mdl-23956136

ABSTRACT

We report on two patients with a severe form of spondyloepimetaphyseal dysplasia (SEMD). Both patients show normal birth length, early postnatal growth deficiency, severe short stature, flexion contractures in the hips, bowing of the legs with genu varum. Skeletal radiographies show platyspondyly and characteristic vertebral body shape with central indentation of endplates, progressive, and severe metaphyseal changes, very small and irregular proximal femoral epiphyses with severe coxa vara, absence of calcifications, and mild metaphyseal irregularities in upper limbs. The similarities in the skeletal radiographs with SEMD type Strudwick and SEMD matrilin 3 type prompted us to analyze the COL2A1 and MATN3 genes. Direct sequencing of genomic DNA failed to identify any mutation in COL2A1 for both patients and MATN3 sequencing for Patient 1 identified only one heterozygous variant with no predicted damaging effect inherited from an unaffected parent. We therefore conclude that this form of SEMD probably differs from SEMD matrilin 3 type and does not belong to the spectrum of type II collagenopathies. The similarities between our two patients allowed us to propose that they might show a new form of SEMD.


Subject(s)
Osteochondrodysplasias/diagnosis , Bone and Bones/diagnostic imaging , Bone and Bones/pathology , Collagen Type II/genetics , Humans , Infant , Male , Matrilin Proteins/genetics , Mutation , Osteochondrodysplasias/genetics , Phenotype , Radiography , TRPV Cation Channels/genetics
20.
J Pediatr Orthop B ; 21(3): 269-75, 2012 May.
Article in English | MEDLINE | ID: mdl-22158055

ABSTRACT

The aneurysmal bone cyst is a rare tumor. Its treatment is complex when localized to the lumbar spine, with neurological, mechanical, and tumoral complications. The aim of this study is to describe these tumors, their treatment, and their long-term evolution, as well as to define an appropriate therapeutic strategy. Four of the five cysts had anterior and posterior extension. Three patients had neurological symptoms at diagnosis and two of them presented with pathological fracture. Surgical treatment was performed by intralesional resection. Long-term progress was always favorable, without recurrence or functional limitation. Two patients had a stable, mild spine deformity.


Subject(s)
Bone Cysts, Aneurysmal/pathology , Bone Cysts, Aneurysmal/surgery , Lumbar Vertebrae/pathology , Lumbar Vertebrae/surgery , Adolescent , Bone Cysts, Aneurysmal/complications , Child , Child, Preschool , Female , Fractures, Spontaneous/diagnosis , Fractures, Spontaneous/etiology , Humans , Male , Nervous System Diseases/diagnosis , Nervous System Diseases/etiology , Postoperative Complications , Recovery of Function , Retrospective Studies , Treatment Outcome
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