Genetics in orthopaedic practice

DNA holds genetic information in the nucleus of eukaryotic cells; and has three different functions: replication, storage of hereditary information, and regulation of cell division. Most studies described the association of single nucleotide polymorphism (SNP) to common orthopaedics diseases and the susceptibility to develop musculoskeletal injuries. Several mutations are associated with osteoporosis, musculoskeletal ailments and other musculoskeletal deformity and conditions. Several strategies, including gene therapy and tissue engineering with mesenchymal stem cells (MSC), have been proposed to enhance healing of musculoskeletal tissues. Furthermore, a recent technique has revolutionized gene editing: clustered regulatory interspaced short palindromic repeat (CRISPR) technology is characterized by simplicity in target design, affordability, versatility, and high efficiency, but needs more studies to become the preferred platform for genome editing. Predictive genomics DNA profiling allows to understand which genetic advantage, if any, may be exploited, and why a given rehabilitation protocol can be more effective in some individual than others. In conclusion, a better understanding of the genetic influence on the function of the musculoskeletal system and healing of its ailments is needed to plan and develop patient specific management strategies

3‐D GPR Imaging of Complex Fluvial Stratigraphy at the Boise Hydrogeophysical Research Site

A series of three-dimensional (3-D) ground-penetrating radar (GPR) data sets were acquired over the central wellfield area at the Boise Hydrogeophysical Research Site (BHRS). The survey region is 30 m x 18 m and encompasses 13 wells. The goal of the surveys is to image the complex fluvial (cobble-and-sand) stratigraphy around the wellfield. These images will be used to construct 3-D models of the sedimentary architecture and to help constrain fine-scale models of hydrologic and geophysical parameters at the site. The data sets were acquired using 25 MHz, 50 MHz, 100 MHz and 200 MHz antennas. Depth of penetration ranges from -9.6 m for the 200 MHz data to -22 m for the 25 MHz data. Processing significantly improves the reliability and interpretability of the images. The images suggest that the deposit can be subdivided laterally and vertically into several distinct units or radar architectural elements; these elements are typically separated by erosional bounding surfaces. Horizontal bedding, cross-bedding and channel structures are clearly evident in the 100 MHz and 200 MHz data, and a clay layer that underlies the cobble-and-sand aquifer at -20 m depth is successfully imaged in the 25 MHz and 50 MHz data. The water table, at a depth of l-2 m, is imaged in the 100 MHz and 200 MHz data. Time slices and vertical cuts through the data volumes are used to identify the shape and orientation of the different architectural elements, and to accurately locate important hydrostratigraphic boundaries. These data are being used to construct a 3-D model of the hydrogeologic zonation of the aquifer. Hydrologic and geophysical parameter values associated with each zone will be determined from additional field measurements (e.g., hydraulic tests in wells, crosshole radar and seismic tomography, transient electromagnetics, and well logs). The 3-D GPR surveys provide valuable information about the location, scale and geometry of different stratigraphic units at the BHRS

Treatment of simple bone cyst with bone marrow concentrate and equine-derived demineralized bone matrix injection versus methylprednisolone acetate injections: A retrospective comparative study

Objective: The aim of this study was to compare the outcome of intra-lesional autologous bone marrow concentrate (BMC) and equine derived demineralized bone matrix (EDDBM) injections with methylprednisolone acetate injections in patients with simple bone cyst. Methods: Clinical records and radiographs of 53 consecutive patients (37 females, and 16 males; mean age: 10.61 +/- 1.53 years) treated between 2006 and 2016 were retrospectively reviewed. Healing was assessed by an independent radiologist according to Neer scoring system. Functional outcome was assessed with the Activity Scale for Kids (ASK). Thirty-four cysts were in the humerus, 13 in the femur and 6 in other locations. Twenty-nine patients were included in Steroid Group and treated with 3 cycles of injections of methylprednisolone acetate, while 24 patients were treated with injection of autologous bone marrow concentrate and equine derived demineralized bone matrix (BMC + EDDBM Group). The two groups were homogenous for the mean age, sex distribution, cysts location and their clinical presentation. Results: At a minimum follow-up of 24 months, success rate (Neer/Cole score 3 and 4) was higher in EDDBM+BMC group (83.3% vs 58.6%; p=0.047). Female patients had higher healing rates in both groups (p=0.002). No association was found between healing and age (p=0.839), cyst activity (p=0.599), cyst localization (p=0.099) and clinical presentation (p=0.207). BMC+EDDBM group showed higher ASK score (p=0.0007). Conclusion: Treatment with BMC+EDDBM injections may provide better results with a single procedure than 3 methylprednisolone acetate injections and represent an interesting alternative for the treatment of unicameral bone cysts

Narrow Band Imaging and High Definition Television in the endoscopic evaluation of upper aero-digestive tract cancer

Narrow band imaging and high definition television are recent innovations in upper aero-digestive tract endoscopy. Aim of this prospective, non-randomized, unblinded study was to establish the diagnostic advantage of these procedures in the evaluation of squamous cell cancer arising from various upper aero-digestive tract sites. Between April 2007 and January 2010, 444 patients affected by upper aero-digestive tract squamous cell cancer, or previously treated for it, were evaluated by white light and narrow band imaging ± high definition television endoscopy, both in the pre-/intra-operative setting and during follow-up. Tumour resection was performed taking into account narrow band imaging and high definition television information to obtain histopathologic confirmation of their validity. Endoscopic and pathologic data were subsequently matched to obtain sensitivity, specificity, positive, negative predictive values, and accuracy. Overall, 110 (25%) patients showed adjunctive findings by narrow band imaging ± high definition television when compared to standard white light endoscopy. Of these patients, 98 (89%) received histopatological confirmation. The sensitivity, specificity, positive, negative predictive values, and accuracy for white light-high definition television were 41%, 92%, 87%, 82%, and 67%, for narrow band imaging alone 75%, 87%, 87%, 74%, and 80%, and for narrow band imaging-high definition television 97%, 84%, 88%, 96%, and 92%. The highest diagnostic gain was observed in the oral cavity and oropharynx (25%). Narrow band imaging and high definition television were of value in the definition of superficial tumour extension, and in the detection of synchronous lesions in the pre-/intra-operative settings. These technologies also played an important role during post-treatment surveillance for early detection of persistences, recurrences, and metachronous tumours

Learning-based classification of informative laryngoscopic frames

Background and Objective: Early-stage diagnosis of laryngeal cancer is of primary importance to reduce patient morbidity. Narrow-band imaging (NBI) endoscopy is commonly used for screening purposes, reducing the risks linked to a biopsy but at the cost of some drawbacks, such as large amount of data to review to make the diagnosis. The purpose of this paper is to present a strategy to perform automatic selection of informative endoscopic video frames, which can reduce the amount of data to process and potentially increase diagnosis performance. Methods: A new method to classify NBI endoscopic frames based on intensity, keypoint and image spatial content features is proposed. Support vector machines with the radial basis function and the one-versus-one scheme are used to classify frames as informative, blurred, with saliva or specular reflections, or underexposed. Results: When tested on a balanced set of 720 images from 18 different laryngoscopic videos, a classification recall of 91% was achieved for informative frames, significantly overcoming three state of the art methods (Wilcoxon rank-signed test, significance level = 0.05). Conclusions: Due to the high performance in identifying informative frames, the approach is a valuable tool to perform informative frame selection, which can be potentially applied in different fields, such us computer-assisted diagnosis and endoscopic view expansion