Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females

Osteoarthritis (OA) is a leading cause of disability in Western society with multiple risk factors, including a complex genetic pattern. Identifying loci involved in the heredity of OA might lead to insights into the molecular pathogenesis of this common disorder. A previous genome scan mapped a primary hip OA susceptibility locus to chromosome 2q with a maximum multipoint logarithm of odds score of 1.6 in 378 affected sibling pair families. Here, microsatellite targeting of eight candidate genes in this region from 2q23-2q32 demonstrated significant associations with the tumor necrosis factor alpha-induced protein 6 gene in all probands and the integrin alpha 6 and frizzled motif associated with bone development (FRZB) genes in female probands. However, genotyping showed lack of association for a nonsynonymous single-nucleotide polymorphism in tumor necrosis factor alpha-induced protein 6, whereas a single-nucleotide polymorphism in FRZB resulting in an Arg324Gly substitution at the carboxyl terminus was associated with hip OA in the female probands (P = 0.04). This association was confirmed in an independent cohort of female hip cases (n = 338; P = 0.04). In addition, a haplotype coding for substitutions of two highly conserved arginine residues (Arg200Trp and Arg324Gly) in FRZB was a strong risk factor for primary hip OA, with an odds ratio of 4.1 (P = 0.004). FRZB encodes secreted frizzled-related protein 3, which is a soluble antagonist of wingless (wnt) signaling. Variant secreted frizzled-related protein 3 with the Arg324Gly substitution had diminished ability to antagonize wnt signaling in vitro. Hence, functional polymorphisms within FRZB confer susceptibility for hip OA in females and implicate the wnt signaling pathway in the pathogenesis of this disease.     

Effects of remineralization procedures on shear bond strengths of brackets bonded to demineralized enamel surfaces with self-etch systems

Objective:To compare the effects of different remineralization procedures on the surface roughness of teeth, shear bond strengths (SBSs), and Adhesive Remnant Index scores of self-etching primer (SEP) used to bond orthodontic brackets to previously treated demineralized enamel surfaces.Materials and Methods:A total of 140 extracted human premolar teeth were randomly divided into seven equal groups. Group I was the control group. A demineralization procedure was performed in the other six groups. A remineralization procedure was performed before bonding by using casein phosphopeptide-amorphous calcium phosphate, fluoride, a microabrasion mixture (18% hydrochloric acid-fine pumice), a microabrasion agent, and resin infiltration in groups III to VII. Brackets were bonded using a self-etching primer/adhesive system. The specimens were tested for SBS. The roughness and morphology of the enamel surfaces were analyzed using profilometer and scanning electron microscopy. Data were analyzed with analysis of variance, Tukey, and G-tests at the α  =  .05 level.Results:Significant differences were found in the SBS values among the seven groups (F  =  32.69, P  =  .003). The lowest SBS value was found in group II (2.62 ± 1.46 MPa). No significant differences were found between groups I, III, and VII, between groups III and IV, or between groups V and VI. The differences in the roughness values were statistically significant among the groups (P  =  .002).Conclusions:Remineralization procedures restore the decreased SBS of orthodontic brackets and decrease surface roughness caused by enamel demineralization. SEPs provide clinically acceptable SBS values for bonding orthodontic brackets to previously treated demineralized enamel surfaces.     

Trace element status (Se, Zn, Cu) in heart failure.

OBJECTIVE: It has been speculated that trace elements may play a role in the pathogenesis of heart failure. In the present study, we aimed to assess serum concentrations of selenium (Se), zinc (Zn) and copper (Cu) in patients with heart failure (HF) and to compare idiopathic dilated cardiomyopathy (IDCM) and ischemic cardiomyopathy (ICM) patients with healthy controls. METHODS: This study population included 54 HF patients (26 IDCM patients and 28 ICM patients) and 30 healthy subjects. Serum levels of selenium, zinc, and copper were assessed by atomic absorption spectrophotometry method. RESULTS: Serum concentrations of Se and Zn in HF patients were significantly lower than in healthy controls (p=0.000 and p<0.01, respectively). However, serum Cu concentrations in these patients were significantly higher than in controls (p=0.000). There were no significant difference in the trace elements status between IDCM and ICM patients (p>0.05 for all parameters). Relationships of the serum trace element concentrations studied with echocardiographic and hemodynamic parameters were not statistically significant. CONCLUSION: Our study showed that heart failure is associated with lower Se and Zn concentrations, and higher Cu concentration, and serum Se, Zn and Cu element profiles were similar in IDCM and ICM.     

Association of the interleukin-1 gene cluster on chromosome 2q13 with knee osteoarthritis

OBJECTIVE: To investigate whether the interleukin-1 (IL-1) ligand gene cluster at 2q13 encodes for genetic susceptibility to primary osteoarthritis (OA). METHODS: Seven single-nucleotide polymorphisms (SNPs) and a variable-number tandem repeat (VNTR) polymorphism from within the IL-1 ligand genes IL1A, IL1B, and IL1RN were genotyped in a cohort of 557 OA cases and 557 age-matched controls. RESULTS: None of the variants demonstrated association in the unstratified data set. However, when cases were stratified according to sex and site of disease (hip or knee), 4 SNPs showed marginal evidence for association (P < 0.1) in knee cases (n = 136) and male knee cases (n = 58). For 2 of these SNPs, evidence for association was enhanced when probands from 60 knee-only affected sibling pair families were genotyped and combined with the original knee cases (P < or = 0.05). Further analysis revealed that the associated alleles at 2 of these SNPs were markers for the same haplotype, the frequency of which was significantly elevated when knee cases and knee probands were combined (P = 0.01, odds ratio [OR] 1.4) and when male knee cases and male knee probands were combined (P = 0.009, OR 1.7). Furthermore, linkage analysis of 2q revealed suggestive evidence for linkage to the IL-1 gene clusters in affected sibling pairs concordant for knee OA but no evidence for linkage in affected sibling pairs concordant for hip OA. CONCLUSION: The IL-1 ligand cluster encodes for susceptibility to knee OA but not to hip OA, highlighting the genetic heterogeneity of this common, complex disease.     

Lung parenchymal changes in patients with ankylosing spondylitis

AIM: To assess lung parenchymal changes in ankylosing spondylitis (AS) using high resolution computed tomography (HRCT). METHODS: We included 78 AS patients whose average age was 33.87 (18-56) years with a ratio of 53 males to 25 females who were followed up for 3.88 (1-22) years on average. neumonia and tuberculosis were excluded. In a detailed examination of lung HRCT findings, we investigated the presence of parenchymal micronodules,parenchymal bands, subpleural bands, interlobular and intralobular septal thickening, irregularity of interfaces,ground glass opacity, consolidation, mosaic pattern,bronchial wall thickening, bronchial dilatation, tracheal dilatation, pleural thickening, emphysema, thoracic cage asymmetry, honeycomb appearance, structural distortion, apical fibrosis and other additional findings.RESULTS: In detailed HRCT evaluations, lung parenchymal changes were found in 46 (59%) of all patients. We found parenchymal bands in 21 (27%) cases, interlobular septal thickening in 9 (12%), emphysema in 9 (12%), apical fibrosis in 8 (10%), ground-glass opacities in 7 (9%), parenchymal micronodules in 5 (6%), irregularity in interfaces in 3 (4%), bronchial dilatation in 3 (4%), mosaic pattern in 2 (3%), pleural thickening in 2 (3%), consolidation in 1 (1%), bronchial wall thick ening in 1 (1%) and a subpleural band in 1 (1%) case. Furthermore, we detected subsegmental atelectasis in 2 patients and a cavitary lesion in 1 patient. CONCLUSION: Our study had the highest number of AS cases of all previous studies in evaluating lung paren chymal changes. The rate of lung parenchymal changes was slightly lower than that reported in recent literature.     

The validation of left atrial strain imaging for the assessment of diastolic functions in patients with ST-segment elevation myocardial infarction

Assessment of left ventricular filling pressure (LVFP) is crucial in patients with ST-segment elevation myocardial infarction (STEMI). Since current guideline recommended echocardiographic parameters have limited value, more comprehensive assessment methods are required in this patient subset.In this study, we aimed to investigate the clinical utility of left atrial reservoir strain (LARS) imaging in patients treated with primary percutaneous coronary intervention (pPCI). Patients who underwent successful pPCI were included. Left ventricular end-diastolic pressure (LVEDP) was measured invasively following pPCI. Left atrial strain imaging was performed following pPCI within 24 h of pPCI. Normal LARS value was accepted as above 23%. We prospectively enrolled 69 patients; there were 18 patients with LARS below 23% who were included into group 1 and rest of the study population included into group 2. There was no significant difference between groups in terms of comorbidities.Troponin and pro-BNP levels were significantly higher in group 1 (p: 0.036 and 0.047 respectively). Left atrial volume and tricuspid regurgitation velocity were similar between groups (p: 0.416 and p: 0.351 respectively). Septal tissue velocity was higher (p: 0.001) and Septal E/e’ ratio was lower (p: 0.004) in group 2. Left ventricular (LV) global longitudinal strain value was higher in group 1 which is consistent with observed lower ejection (LVEF) fraction in group 1 (p: 0.001 for LV strain and p: 0.001 for LVEF). Estimated mean LVFP was also higher in group 1 (p: 0.003).Correlation analyses revealed moderate correlation between LARS and LVEDP (r: ? 0.300). Our results indicate that left atrial strain imaging is a promising tool for the assessment of left atrial pressure in patients with STEMI.

     

Use of a water-vapour permeable polyurethane film (omiderm) in the non-surgical treatment of aplasia cutis congenita.

Aplasia cutis congenita is characterised by congenital absence of all layers of skin, and most commonly affects the scalp. It is often associated with absence of the bone and dura underlining the defective scalp. In this report, we present the result of use of a water-vapour permeable polyurethane film (Omiderm) together with absorbant fine mesh gauze impregnated with 3% bismuth tribromophenate (Xeroform) in the treatment of a cranial defect in a newborn baby of low birth weight, who could not be operated on because of associated medical problems.     

Calcaneal ulcer in a child with congenital insensitivity to pain syndrome.

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare hereditary sensory neuropathy, comprising congenital insensitivity to pain, anhidrosis, and mental retardation. We present a 4-year-old child with CIPA and a calcaneal ulcer who was treated with double opposing rotation flaps, which eventually healed.     

Hemiplegia and heterotopic ossification on the non-paretic extremity: a case report.

Heterotopic ossification is the formation of new bone in an abnormal location. It is usually seen following central nervous system disorders, including spinal cord injury, traumatic brain injury, encephalitis, and burn and trauma. Heterotopic ossification in post-stroke hemiplegia is rare; the reported incidence is 0.5-1.2%. It usually occurs on the paretic side of hemiplegic patients. We present here a case of post-stroke hemiplegia with heterotopic ossification in the non-paretic limb.