Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.

BACKGROUND: Oculodentodigitaldysplasia (ODDD; MIM no. 164200) is a rare hereditary disorder caused by mutations in the gene GJA1.Ocular disorders included microcornea, cornea opacity and glaucoma. However, few studies described fundus findings. MATERIALS AND METHODS: Ophthalmic examination included visual acuity measurement, intraocular pressure (IOP) measurements, slit-lamp biomicroscopy, B-scan ultrasonography, Ultrasound biomicroscopy (UBM), spectral-domain optical coherence tomography (SD-OCT), ERG and retcam fluorescein angiogram. In addition, blood samples were taken from this patient for mutation analyze of GJA1. RESULT: The ophthalmic features of this patient were microcornea, cornea opacity, glaucoma as expected. Interestingly, the patient had a normal axial length with refractive status of emmetropia, but extremely retinal dysplasia and severe choroid thinning was noted. Flash electroretinogram (ERG) was extinguished in both eyes. This study identified a novel mutation c.91A>T in the GJA1 gene associated with fundus abnormalities. Bioinformatics and structural modeling suggested the mutation to be pathogenic. CONCLUSION: Our research expanded not only the mutation spectrum, but also the clinical characteristics of ODDD. To the best of our knowledge, this is the first report on anatomical and functional chorioretinal changes in ODDD patients. These novel ocular features highlight the importance of fundus morphological and functional evaluation in ODDD. ABBREVIATIONS: ODDD: oculodentodigital dysplasia; OCT: optical coherence tomography; ERG: electroretinogram; TACT: teller acuity card test; UBM: ultrasound biomicroscopy; MW: molecular weights; AL: axial length; Cx43: connexin 43; RPE: retinal pigment epithelium; RGCs: retinal ganglion cells; FEVR: familial exudative vitreoretinopathy; ROP: retinopathy of prematurity.

Application of a Shape-Memory Alloy Concentrator in Displaced Patella Fractures: Technique and Long-Term Results.

Operative treatment is usually recommended in displaced patella fractures. Several techniques have been advocated for internal fixation of patella fractures. Despite the relatively good clinical outcomes that have been demonstrated in many studies, postoperative morbidities such as fixation failure, nonunion, infection, and knee stiffness are not uncommon. We present a new alternative treatment technique for displaced patellar fractures. Between April 1995 and May 2005, we used the Nitinol Patella Concentrator (NTPC) to treat 156 consecutive patients with displaced patellar fractures. Injuries arose from vehicular accidents in 56 (35.9%) cases, direct falls onto the knee in 85 (54.5%) cases, and sports injuries in 15 (9.6%) cases. The mean patient age was 46.3 years (range, 25-77 years). Clinical assessments were made using the Böstman knee score and the MOS SF-36 questionnaire (Medical Outcomes Study 36-item short-form health survey), which were both recorded at the final follow-up visit. The mean follow-up was 7.3 years (range, 6-17 years). At the final follow-up, the Böstman knee scores were excellent in 88 cases (28-30), good in 55 (20-27), and unsatisfactory in 13 (<20). According to the MOS SF-36 evaluation, the average score was 84.5 (range, 62-91). Treatment of patellar fracture with the NTPC not only may serve as an effective and rigid fixation method in multifragmented displaced and inferior pole fractures, but also may provide continuous concentrative compression during the osseous healing process. Thus, use of the NTPC may help restore the functional integrity of the extensor mechanism and permit early rehabilitation with a lower incidence of postoperative complications.

Enhanced bone tissue regeneration by antibacterial and osteoinductive silica-HACC-zein composite scaffolds loaded with rhBMP-2.

Next-generation orthopedic implants with both osteoinductivity and antibacterial ability are greatly needed. In the present study, biodegradable rhBMP-2 loaded zein-based scaffolds with a macroporous structure were synthesized, and SBA-15 nanoparticles and hydroxypropyltrimethyl ammonium chloride chitosan (HACC) were incorporated into the scaffolds to produce an anti-infective composite scaffold for delivery of osteogenic factors that facilitate the functional repair of bone defects. The silica/HACC/zein scaffolds developed here showed bioactivity, biocompatibility, and effective antibacterial activity. Confocal laser scanning microscopy (CLSM) was used to quantitatively measure the bactericidal efficacy with respect to bacterial adhesion. Results showed that the sample zein-HACC-S20 exhibited long-lasting antibacterial activity against Escherichia coli and Staphylococcus aureus up to 5 d. At a low dosage of rhBMP-2 (ca. 80 µg), the scaffolds released rhBMP-2 protein efficiently at a relatively slow rate, even after 27 d. An ALP activity and ECM mineralization assay showed that the zein-HACC-S20 scaffolds exhibited significant early osteogenic differentiation by generating enhanced ALP product on day 14 and ECM mineralization on day 21. In a mouse model of thigh muscle pouches, zein-S20 and zein-HACC-S20 groups resulted in obvious bone formation and gave more extensive mineralization to the implants than silica free groups, indicating effective bone induction in vivo. In a rabbit model of critical-sized radius bone defects (20 mm in length and 5 mm in diameter), the bone defects were almost fully repaired and bone marrow cavity recanalization was detectable by 3D micro-CT technique and histological analysis after 12 weeks. In this way, the zein-HACC-S20 scaffolds were proven to significantly promote the bone repair. They also demonstrated considerable promise for tissue engineering. Silica/HACC/zein scaffolds with both antibacterial activity and the ability to induce osteogenesis have immense potential in orthopedics and other biomedical applications.

Organic/inorganic composite membranes based on poly(L-lactic-co-glycolic acid) and mesoporous silica for effective bone tissue engineering.

Fabrication of membranes with excellent biocompatibility and bioactivity remains an important technical challenge in bone tissue engineering. In this paper, poly(l-lactic-co-glycolic acid) (PLGA)-SBA15 (Santa Barbara Amorphous 15) composite membranes were prepared by using an electrospinning technique; PLGA was used as a biocompatible and biodegradable polymer and SBA15 was used as a mesoporous silica. The PLGA-SBA15 composite membrane facilitates the cell attachment and the cell proliferation versus pure PLGA membrane where human bone marrow-derived mesenchymal stem cells (hMSCs) were seeded. Furthermore, the analysis of alkaline phosphatase (ALP) activity indicated that this PLGA-SBA15 composite membrane has better osteogenic induction compared with the pure PLGA membrane. Moreover, the presence of SBA15 increased the loading efficiency of the recombinant human bone morphogenetic protein-2 (rhBMP-2) to the membranes. Furthermore, the composite membrane had optimized sustained release of rhBMP-2. Overall, this PLGA-SBA15 composite is an excellent material for bone tissue engineering.

[Management of inferior polar comminuted fractures of patella and patellar tendon injury].

OBJECTIVE: To investigate the treatment and effectiveness of inferior polar comminuted fractures of patella and patellar tendon injury. METHODS: Between January 2003 and December 2008, 5 patients with inferior polar comminuted fractures of patella and patellar tendon injury were treated with Nitinol Patellar Concentrator and fascia lata allograft. There were 3 males and 2 females with a mean age of 33.7 years (range, 20-48 years). The interval of injury and operation was 1-5 days. Fracture degree: 3 cases had 3 fractures of patella, 2 cases had 4 fractures; patellar tendon injury degree: 3 cases had horizontal rupture of middle ligament, 1 case had oblique rupture of tibial tubercle, and 1 case had longitudinal partial rupture. RESULTS: Healing of incision by first intention was achieved in all patients, and no complication of infection or deep venous thrombosis occurred. The X-ray films at 2 days after surgery showed that patella recovered to normal height, which meaned ratio of patella height to patellar tendon length recovered to 1 : 1. Five cases were followed up 18 months on average (range, 10-22 months). At 3-12 weeks after surgery, the knee function of the injury side almost reached that of the normal side in 4 patients, and the knee range of motion was about 100 degrees in 1 patient. The fracture healing time was 3-5 months. At 12-15 months after surgery, patella holder was taken out and no lost of reduction or refracture occurred. During follow-up, there was no fracture displacement, loosening and breakage of implant, or rerupture of patellar tendon. According to ZHANG Chuncai's criterion for knee joint function, the results were excellent in 3 cases, good in 1 cases, and fair in 1 case with an excellent and good rate of 80%. According to XU Shaoting's criterion for knee joint function, the results were excellent in 2 cases, good in 2 cases, and fair in 1 case with an excellent and good rate of 80%. CONCLUSION: Nitinol Patellar Concentrator and fascia lata allograft is a new method to treat inferior polar comminuted fractures of patella and patellar tendon injury, and it can ensure the knee joint stability in early motion after surgery.

[Treatment of Seinsheimer type V subtrochanteric femoral fractures with dynamic hip screw and shape memory alloy bow-teeth screw].

OBJECTIVE: To investigate the clinical effect of Seinsheimer type V subtrochanteric femoral fractures with dynamic hip screw and shape memory alloy bow-teeth screw. METHODS: Twelve patients with Seinsheimer type V subtrochanteric femoral fractures were retrospectively analyzed. There were 8 males and 4 females with an average age of 53 years (range 31 to 65 years). Seven cases were caused by traffic accident, 4 cases by falling from hight, 1 case by heavy object. According to the Seinsheimer classification, all the cases were type V fractures. All the cases accepted the surgical treatment with dynamic hip screw and shape memory alloy bow-teeth screw fixation. RESULTS: The mean period of follow-up was 28 months (range 20 to 38 months). All the cases obtained bone union in average 3.3 months (from 3 to 4.5 months). There were no complications such as deep infection, deep vein thrombosis, pulmonary embolism and bone nonunion. The results of clinical evaluation according to Merle d'Aubigne scores were 16.75 +/- 1.14 and excellent in 4 cases, good in 8 cases. CONCLUSION: Application of dynamic hip screw and shape memory alloy bow-teeth screw as a superior option can get satisfactory reduction with reliable fixation and will be one of a better choice for fixation of Seinsheimer type V subtrochanteric femoral fractures.