GABRG2 C588T gene polymorphisms might be a predictive genetic marker of febrile seizures and generalized recurrent seizures: a case-control study in a Romanian pediatric population.

INTRODUCTION: This case-control study aimed to assess two single nucleotide polymorphisms of the gene encoding the GABRG2 protein - GABRG2 (3145 G>A) and GABRG2 rs 211037 Asn196Asn (C588T) - in a cohort of pediatric patients from Romania, and evaluate their possible impact on drug-resistant forms of generalized epilepsy and recurrent febrile seizures. MATERIAL AND METHODS: One hundred and fourteen children with idiopathic generalized epilepsy (group 1) or febrile seizures (group 2) were compared to 153 controls. Peripheral blood samples were assessed using polymerase chain reaction-restriction fragment length polymorphism analysis, with results interpreted based on the disappearance of a restriction site in the C allele (122 bp) compared to the T allele (100 bp + 22 bp). RESULTS: A significant association was found with the TT homozygous genotype and T allele for both febrile seizures and epilepsy for the C588T locus, while GABRG2 G>A 3145 showed no significant association with any type of seizure. The TT homozygous genotype of GABRG2 Asn196Asn polymorphism was more frequent in patients with a history of febrile seizures (p = 0.0001), without a significant association identified for GABRG2-G>A 3145. Composite analysis showed associations with epilepsy for CC-AG (p = 0.02) and CT-AG (p = 0.007) with the CC-AA combination as reference. CONCLUSIONS: C588T polymorphism of the GABRG2 gene might be a predictive genetic marker in triggering febrile convulsions. GABRG2 rs211037 TT homozygotes and T allele variants have an increased risk for developing febrile seizures. Recurrent crises and repeated episodes of seizures are more frequent in the GABRG2 Asn196Asn TT genotype polymorphism, with a 45 and 8 times higher risk of developing idiopathic generalized epilepsy and recurrent febrile seizures, respectively.

Adverse local tissue reaction after 2 revision hip replacements for ceramic liner fracture: A case report.

INTRODUCTION: In younger patients, ceramic-on-ceramic (CoC) bearing surfaces are usually recommended for total hip replacement (THR) because of their low wear rate and longer expected functional life. Although technical advancements have reduced the risk of ceramic bearings fracture, this complication remains a major concern. CASE DESCRIPTION: We present the case of a 56-year-old patient undergoing 3 revision hip arthroplasties of the right hip due to ceramic liner fractures. Initial THR (2008) was performed with a CoC bearing, followed by liner fracture due to trauma a year later. The acetabular component and liner were replaced, with a minor incongruence between the old head and new insert. The 2nd ceramic insert fractured 3.5 years later, following minor trauma. Upon revision, the bearing surface was changed to metal-on-polyethylene (MoP). The performed retrieval analysis demonstrated stripe and rim wear, and evidence of adhesive wear. The patient was referred to us a month later, with a fistula on the lateral side of the hip, discharging black, petroleum-like liquid. Radiology showed well-fixed implants, no dislocation and no apparent polyethylene wear. Microbiological assessment of the discharge showed no infection. Intraoperatively massive metallosis was noticed, with stable acetabular and femoral components. The metal femoral head was heavily abraded, with almost 1% volumetric wear. Hematoxylin and eosin stained frozen tissue samples showed muscular and adipose tissue necrosis, while polarized light microscopy highlighted metal, polyethylene, and ceramic particles. CONCLUSION: The present case is yet another report showing the adverse outcomes of using MoP bearings for revision after ceramic liner fracture in THR.

Clinico-radiological diagnosis and grading of rapidly progressive osteoarthritis of the hip.

Due to the current lack of standard definitions for rapidly progressive osteoarthritis of the hip (RPOH) in the literature, this observational study aimed to describe new diagnostic criteria and a grading system for the disease.From a consecutive series of patients undergoing total hip replacement, 2 groups were selected: 1 with RPOH and 1 with primary hip osteoarthritis (POH), and their clinical, paraclinical, and demographic data were compared. The newly proposed clinico-radiological diagnostic criteria are based on characteristics of pain, joint mobility, and radiological assessment. The radiological grading system's inter- and intraobserver reliability was assessed through serial evaluations by 2 blinded reviewers.From the total 863 cases, 82 cases (9.5%) of RPOH were identified and compared with 107 cases of POH. Mean age and disease bilaterality were similar, with a predominance of female patients in the RPOH group (P = 0.03). There were significant differences between the 2 groups in disease onset and aggravation, and intraoperative blood loss. The grading system showed significant inter- and intraobserver agreement (weighted kappa 0.93, and 0.89).Our study presents distinctive, easily recognizable clinico-radiological characteristics of RPOH and confirmed the inter- and intraobserver reliability of the newly proposed grading system.

Different synovial vasculogenic profiles of primary, rapidly destructive and osteonecrosis-induced hip osteoarthritis. An immunohistochemistry study.

PURPOSE: To present a hypothesis regarding the pathways of angiogenesis in primary versus secondary hip osteoarthritis (OA). METHODS: In synovial tissue samples provided by 57 consecutive patients who underwent hip arthroplasty, immunohistochemical examinations were performed using the following angiogenesis-related antibodies: VEGF-A, COX-2, maspin and the endothelial cells markers CD31 and CD105. The cases were divided into three categories: classic primary hip OA (group A; n = 16), rapidly destructive hip OA (group B; n = 24) and hip OA secondary to avascular osteonecrosis of the femoral head (group C; n = 17). The endothelial area (EA) was digitally quantified for both CD31 and CD105. RESULTS: The large mature vessels with CD105-positive activated endothelium predominated in group C, which also showed the highest CD105 median EA value (7.31 ± 4.01, compared to 4.76 ± 3.73 for group A and 6.69 ± 3.53 for group B). In groups A and B, synovial cell hyperplasia and the predominance of small immature vessels were characteristic. CD105, VEGF-A and COX-2 were focally seen in the synovial membrane, without maspin positivity. CONCLUSIONS: The severity of hip OA can be related to angiogenesis pathways that are not maspin-mediated. In primary hip OA, angiogenesis may be induced by a combined mechanism: hypoxia-related VEGF-dependent vasculogenesis and endothelial differentiation of the activated pluripotent cells, which are released from the hyperplastic synovial cells layer. An endothelial mesenchymal transition is assumed to be involved in the fibrotic process.

Histopathological evaluation and expression of the pluripotent mesenchymal stem cell-like markers CD105 and CD44 in the synovial membrane of patients with primary versus secondary hip osteoarthritis.

To present the morphological changes of classic primary versus rapidly progressive and secondary hip osteoarthritis (HO) and to examine the expression of two pluripotent mesenchymal stem cell-like markers in the synovial membrane. A prospective observational study was conducted in 57 consecutive cases of radiologically confirmed HO in which total hip arthroplasty was performed. Based on the radiological and clinicopathological features, the cases were divided into three categories: classic primary HO (group A; n=16), rapidly destructive HO (group B; n=24), and HO secondary to avascular osteonecrosis of the femoral head (group C; n=17). Immunostains were performed using the markers CD44 and CD105. The cases from group A were mainly characterized by a marked perivascular inflammatory infiltrate and simple synovial hyperplasia. In group B, the papillary type of synovial hyperplasia was found and presence of chondromatosis, ossification, and ectopic follicles with germinal centers in the subsynovial layer was characteristic, whereas marked calcification and/or ossification were seen in group C. Focal expression of the CD105 and CD44 was noted in the hyperplastic synovial cells and subsynovial layer in cases from group A, whereas synovial cells from group B were diffusely positive for both CD44 and CD105. In secondary HO, CD44 marked the inflammatory cells. Mobilization of the CD44/CD105 positive synovial cells seems to play a role in the genesis of HO. The number of the pluripotent mesenchymal stem cell-like cells derived from the hyperplastic synovial cells might be related to the severity of possible immune-mediated rapidly destructive HO.

Effectiveness of fine-needle aspiration cytology in the diagnosis of lateral cervical nonthyroid tumors.

Given that the clinical and radiological examinations of lateral cervical masses are not always sufficient for deciding on appropriate management, the cytological examination of the material obtained by fine-needle aspiration might be an efficient tool in the preoperative investigation of these lesions.In this prospective cross-sectional study we evaluated the efficacy and diagnostic accuracy of fine-needle aspiration cytology in the assessment of lateral cervical nonthyroid tumors, by comparing its results with those of histopathology.A total of 58 patients with lateral cervical masses were included. Preoperative cytological results were compared with the histopathologic examination of surgical specimens.Both cytology and histology indicated that malignant tumors outnumbered benign lesions (62% vs 38%), with 88.9% of malignancies presenting in patients aged >50 years, but cytology was less effective at differentiating between benign and nontumor lesions. Cytology had 76.5% specificity and 78.1% sensitivity for identifying malignant lateral cervical lesions, and there was a concordance between the two diagnostic tests (McNemar test, P = 0.17, κ = 0.50, P <0.001).Fine-needle aspiration cytology is a simple, quick, and effective procedure that can aid in the preoperative evaluation of lateral cervical masses by differentiating benign tumors and inflammatory processes from malignancies and thus help in determining a subsequent therapeutic strategy.

S53P4 bioactive glass and fibrin glue for the treatment of osteochondral lesions of the knee - a preliminary in vivo study in rabbits.

The role of the subchondral bone and the importance of treating both bone and cartilage in cases of chondral and osteochondral lesions of the knee have been highly emphasized. There are no current studies on the experimental use of bioactive glass S53P4 (BonAlive®) as granules in the treatment of osteochondral lesions of the knee. Our preliminary study was designed to establish an experimental model and assesses the effect of glass granules fixed with fibrin compared to fibrin alone as fillers of the osteochondral defects created in the weight-bearing and partial weight-bearing regions of the distal femur in six adult rabbits. We found that the size of the distal femur in adult domestic rabbits allows the creation of 4 mm diameter and 5 mm deep osteochondral defects on both the medial femoral condyle and the trochlea, bilaterally, without significantly affecting the activity level of the animals. Retention of the glass granules in the defects was achieved successfully using a commercially available fibrin sealant. At five weeks post-implantation, we found macroscopic and microscopic differences between the four types of defects. The use of bioactive glass S53P4 for filling condylar osteochondral defects in rabbit femora led to the initiation of an early bone repair process, observed at five weeks after implantation, while the filling of trochlear defects with fibrin glue resulted in the appearance of cartilaginous tissue characteristic of endochondral ossification.

Acetabuloplasty with bone grafting in uncemented hip replacement for protrusion.

PURPOSE: This retrospective study investigated midterm outcomes of uncemented total hip replacement with acetabuloplasty using impacted bone grafts in acetabular protrusion or primary hip arthritis with an inadequate thickness of the medial acetabular wall. METHODS: The medial acetabular wall was augmented by impaction bone grafting, and an uncemented cup was implanted in all cases. Hip centre of rotation, medial acetabular wall thickness and cup positioning were evaluated radiologically, with the Harris Hip Score determined at each follow-up. RESULTS: A total of 32 patients (39 hips) were followed for a mean of 4.5 years, with significant improvement of the Harris Hip Score at the last follow-up. Hip centre of rotation was restored close to the optimal position. Medial acetabular wall thickness and cup position obtained immediately postoperatively were maintained up to the last follow-up, without statistically significant differences. Bone graft integration was observed in all cases by one or two years postoperatively, with no signs of loosening or cup migration at the last follow-up. Heterotopic ossification was identified in 15.4% of cases, without clinical evidence of hip mobility impairment or pain. CONCLUSIONS: Impaction bone grafting for acetabuloplasty, associated with the implantation of an uncemented cup, yields good midterm results in patients with acetabular protrusion and with primary hip arthrosis with a thinned medial acetabular wall. The restored bone stock and medial acetabular wall thickness enable the placement of the hip centre of rotation close to the optimal location, which could offer further long-term benefits.

The in vitro antibacterial effect of S53P4 bioactive glass and gentamicin impregnated polymethylmethacrylate beads.

Osteomyelitis is a disease that is still difficult to treat, with considerable morbidity and associated costs. The current "gold standard" in treatment - debridement and implantation of antibiotic impregnated polymethylmethacrylate (PMMA) beads - presents the disadvantage of a second surgical intervention required for the removal of the beads. We comparatively investigated the in vitro antibacterial effect of S53P4 bioactive glass (BAG) and gentamicin impregnated PMMA beads. Bacterial viability was assessed hourly by Standard Plate Count during 24 hours of incubation, by determining the number of colony forming units (CFU) of Staphylococcus aureus, Staphylococcus epidermidis, Escherichia coli and Klebsiella pneumoniae. Both tested materials showed an antibacterial effect on all studied bacteria. In case of S. aureus, BAG granules were almost as effective as gentamicin impregnated PMMA beads, with no statistically significant differences. In contrast, PMMA beads had a superior antibacterial effect on S. epidermidis and K. pneumoniae. The antibacterial effect of BAG was greatly influenced by granule size and contact time. There was a statistically significant correlation between pH values and the number of CFU in the case of S53P4 BAG granules. As a biocompatible and biodegradable bone substitute, S53P4 bioactive glass can be a good alternative in the local management of osteomyelitis.