As one of the most frequent skeletal anomalies, developmental dysplasia of the hip (DDH) is characterized by a considerable range of pathology, from minor laxity of ligaments in the hip joint to complete luxation. Multifactorial etiology, of which the candidate genes have been studied the most, poses a challenge in understanding this disorder. Candidate gene association studies (CGASs) along with genome-wide association studies (GWASs) and genome-wide linkage analyses (GWLAs) have found numerous genes and loci with susceptible DDH association. Studies put major importance on candidate genes associated with the formation of connective tissue (COL1A1), osteogenesis (PAPPA2, GDF5), chondrogenesis (UQCC1, ASPN) and cell growth, proliferation and differentiation (TGFB1). Recent studies show that epigenetic factors, such as DNA methylation affect gene expression and therefore could play an important role in DDH pathogenesis. This paper reviews all existing risk factors affecting DDH incidence, along with candidate genes associated with genetic or epigenetic etiology of DDH in various studies.
Purpose The aim of this study was to evaluate early results of acetabular revisions of total hip replacement using fully cementless trabecular titanium (TT) acetabular modular implants (Delta Trabecular Titanium, Limacorporate, Udine, Italy). Methods Between March 2009 and May 2012 TT was used in 81 revisions. The mean age at the time of revision was 68 years (32-84 years). There were nine patients revised for type 1, 11 for type 2A, 27 for type 2B, six for type 2C, 15 for type 3A and 13 for type 3B acetabular defects according to the Paprosky classification. Frozen morselised bone allografts were used in 53 cases and bulk structural allografts in three cases. Clinical evaluations were made using a modified functional Merle d'Aubigné-Postel score. The mean follow-up period was 38.14 months (24-62 months). Results The mean pre-operative Merle d'Aubigné-Postel functional score was 4.7 and 9.8 at the time of last followup. There was one revision due to instability of the acetabular component. A cage system-Delta Revision TT-was successfully used in this case. Three cases with Paprosky type 3B defect showed cranial migration of the acetabular component by 6 mm, but stabilised after six months. No dislocations associated with acetabular surgery have occurred in the cohort. There have been no dissociations of the modular component. A fatigue fracture of the hemispherical module occurred in the revised case. No other hardware mechanical failures have been recorded. Conclusions TT cups, hemispherical modules and augments facilitate reliable and reproducible biological fixation in acetabular revision surgery with excellent results. Extended follow-up is necessary to evaluate the long-term performance of TT modular implants.
Carpal Tunnel Syndrome (CTS) is the most common form of entrapment neuropathy. Several authors have investigated the anatomical and pathophysiological features of CTS and have identified several parameters that, in combination, play a significant role in its pathophysiology. Advancement in biological research on CTS has enabled the advent of efficient diagnostic techniques such as provocative tests and nerve conduction studies. Sophisticated technologies, such as magnetic resonance imaging (MRI) and ultrasonography (US), have facilitated the diagnosis of CTS. This review article aims at consolidating the relevant medical literature pertaining to the symptoms, pathophysiology, clinical diagnosis and treatment strategies of CTS. It also compares the various methods of diagnosis and discusses their benefits and disadvantages. Finally, it sheds light on the conservative vs. surgical approach to treatment and compares them. While the surgical approach has proved to be more efficient relative to the conservative methods of steroid injections and splinting, many studies have demonstrated both advantages and adverse effects of the surgical methods. Surgical options and complications are discussed in detail. This article comprehensively summarizes all medical aspects of CTS to update medical professionals' knowledge regarding the disease.
Background: This article summarizes the outcome from an international consensus meeting, which took place in Vienna on 4 November 2014.
Both adolescents and children suffer from osteosarcoma, localized in the metaphysis of the long bones. This is the most common primary high-grade bone tumor in this patient group. Early tumor detection is the key to ensuring effective treatment. Improved osteosarcoma outcomes in clinical trials have been contingent on biomarker discovery and an evolving understanding of molecules and their complex interactions. In this review, we present a short overview of biomarkers for osteosarcoma, and highlight advances in osteosarcoma-related biomarker research. Many studies show that several biomarkers undergo critical changes with osteosarcoma progression. Growing knowledge about osteosarcoma-related markers is expected to positively impact the development of therapeutics for osteosarcoma, and ultimately of clinical care. It has also become important to develop new biomarkers, which can identify vulnerable patients who should be treated with more intensive and aggressive therapy after diagnosis.
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