Electron inelastic mean free path formula and CSDA-range calculation in biological compounds for low and intermediate energies.

In this study, for low atomic number targets and biological compounds, an inelastic mean free path (IMFP) formula and energy straggling parameter formula are presented, being valid for low and high electron energies. In addition, calculation of the continuous slowing down approximation-range (CSDA-range) from the stopping power is also made. The IMFP and the energy straggling parameter formulae are evaluated using the generalized oscillator strength (GOS) model and the exchange correction to the inelastic differential cross section (IDCS) given by Inokuti, M., [1978. Inelastic collisions of fast charged particles with atoms and molecules--the Bethe theory revisited. Rev. Mod. Phys. 50, 23-35]. The IMFP and CSDA-range for the biological compounds C5H5N5 (adenine), C5H5N5O (guanine), C4H5N3O (cytosine), C5H6N2O2 (thymine), C20H27N7O13P2 (cytosine-guanine) and C19H26N8O13P2 (thymine-adenine) have been introduced for incident electrons in the energy range 20 eV-1 MeV. The calculated results are compared with semi-empirical results and other theoretical results, good agreement being found with experimental data and Monte Carlo (PENELOPE code) predictions. All the IMFP versus energy curves exhibit minima around 80 eV.     

Bacterial endocarditis of systemic atrioventricular valve (tricuspid valve) in corrected transposition and its surgical treatment.

We describe a case of congenitally corrected transposition of great arteries (CCTGA). Tricuspid valve replacement was performed due to valve dysfunction following bacterial endocarditis. After two weeks' antibiotic therapy haemodynamic stabilisation was obtained and the patient was operated in the third week. On cardiopulmonary bypass with 28 degrees C degree systemic hypothermia, the left atrium was approached transeptally. At exploration, the systemic atrioventricular valve was tricuspid valve and pulmonary atrioventricular valve was in shape of a mitral valve. The posterior leaflet of the tricuspid valve was ruptured and vegetations above it were observed. The valve was excised and a 29 mm St-Jude mechanical heart valve prosthesis implanted using a teflon reinforced separated suture technique. After operation the patient recovered rapidly and following six weeks' antibiotic therapy, the patient was discharged.     

The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype

We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases.     

Sequence analysis of rpoB mutations in rifampin-resistant clinical Mycobacterium tuberculosis isolates from Turkey

Drug-resistant tuberculosis is a serious problem throughout the world. Resistance to Rifampicin (RIF) is mainly caused by the mutations in the rpoB gene coding the beta-subunit of RNA polymerase. In this study, we aimed to detect the distribution of rpoB gene mutations in 80 RIF-resistant clinical Mycobacterium tuberculosis (MTB) isolates from Turkey. The rpoB gene was amplified by PCR and mutations leading to RIF resistance were determined by automated sequence analysis. A total of 72 of the 80 isolates (90%) were found to carry mutations in the amplified region, whereas eight isolates (10%) carried no mutations. Overall, 24 different missense mutations affecting 14 codons, and two deletion mutants were identified. Nine new mutations, six in the hot-spot region and three outside this region, were found. The codon numbers of the most frequently encountered mutations were 531 (51.4%), 526 (18.1%), 516 (13.9%), and 513 (12.5%). As a result, 90% of the RIF-resistant MTB isolates from the Turkish patients were found to carry a mutation in the rpoB gene, Ser531Leu being the most frequent one. Although molecular methods identify mutations leading to RIF resistance very quickly, results of the antimycobacterial susceptibility tests must be taken into consideration for the patients carrying no mutations in this region.     

Early impact of hormone replacement therapy on vascular hemodynamics detected via ocular colour Doppler analysis

Objective: To determine the effects of hormone replacement therapy (HRT) on ocular blood flow.

Study design: In a prospective controlled study, 40 healthy women who presented to the menopause clinic between December 2000 and December 2001 were randomly assigned into the study. The HRT-receiving group was administered estradiol 17-valerate 2 mg the first 11 days, and estradiol 17-valerate 2 mg plus ciproterone acetate 1 mg the next 10 days of the monthly cycle for 6 months. The control group did not receive any HRT for 6 months. The ocular colour Doppler analysis were performed at baseline and after 3 and 6 months. The ocular Doppler analysis was performed in the first half of the cycle in the HRT-receiving group.

Results: Central retinal artery and ophthalmic artery basal Doppler index (peak systolic velocity, end-diastolic velocity, resistive index and pulsatility index) values of the two groups at the beginning of the study did not show any statistically significant difference. Both the right and the left central retinal artery pulsatility index (PI) values of the study group, who received HRT at the end of the third and sixth months, showed a statistically significant decline (paired-samples test, P < 0.05), while the decrease in the resistive indexes was not significant.

Conclusion: These results suggest that 6 months of combined hormone replacement therapy with estradiol 17-valerate 2 mg plus ciproterone acetate 1 mg improves ocular vascular Doppler indices which may be a reflection of cerebral vascular status.     

A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease

Lethal white foal syndrome (LWFS) is a congenital anomaly of horses characterized by a white coat colour and aganglionosis of the bowel, which is similar to Hirschsprung disease (HSCR). We decided to investigate possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as recent studies in mutant rodents and some patients have demonstrated EDNRB defects. First, we identified a full-length cDNA for horse EDNRB . This cDNA fragment contained a 1329 bp open reading frame which encoded 443 amino acid residues. The predicted amino acid sequence was 89, 91 and 85% identical to human, bovine and mouse as well as rat EDNRB respectively, but only 55% identical to the human, bovine and rat endothelin A receptor (EDNRA). Secondly, sequence analysis, together with allele-specific PCR and the amplification- created restriction site (ACRS) technique, revealed a dinucleotide TC-- >AG mutation, which changed isoleucine to lysine in the predicted first transmembrane domain of the EDNRB protein. This was associated with LWFS when homozygous and with the overo phenotype when heterozygous.      

Factor V gene (1691A and 4070G) and prothrombin gene 20210A mutations in patients with Behçet's disease

OBJECTIVES: Beh?et's disease (BD) is a chronic inflammatory disorder of still unknown etiology, characterized by endothelial cell injury/dysfunction and thrombosis and/or aneurysm of large blood vessels. Thrombophilia may play a role in the pathogenesis of thrombosis in BD. The common inherited gene defects, factor V (FV) 1691A (Leiden) and prothrombin (PT) 20210A, are known risk factors for thrombosis. The FV 4070G polymorphism was shown to influence circulating FV levels and to contribute to the activated protein C resistance phenotype. The aim of the study was to evaluate the role of FV 1691A, FV 4070G and PT 20210A gene mutations in Turkish BD patients with and without venous thrombosis. METHODS: Seventy-one patients with BD (27 with venous thrombosis) and 91 healthy subjects were included in the study. FV 1691A, FV 4070G, and PT 20210A mutations were determined by a method based on PCR-RFLP. RESULTS: The frequency of FV 1691A heterozygous mutation in BD patients with venous thrombosis (25.9%) was significantly higher than that in healthy subjects (8.8%; OR = 3.63; 95% CI 1.18-11.2). Although the frequency of this mutation in patients with venous thrombosis was higher than that in the patients without venous thrombosis (11.4%), the difference did not reach a statistically significant level (OR = 2.73; 95% CI 0.77-9.70). In BD patients with thrombosis, the frequencies of FV 4070G and PT 20210A were not significantly different compared to the BD patients without venous thrombosis and healthy subjects. CONCLUSIONS: Our results suggest that the FV 1691A, FV 4070G, and PT 20210A mutations are unlikely to play an important role in the pathogenesis of thrombosis in patients with BD.     

Radiological and clinical comparisons of the patients with rheumatoid arthritis operated with rigid and dynamic instrumentation systems due to lumbar degenerative spinal diseases

BackgroundIt is extremely difficult to treat spine disorders with stabilization in patients with rheumatoid arthritis. Because revision rates are significantly higher in rigid stabilization. To date, there is no data about patients with rheumatoid arthritis treated with dynamic stabilization. Our aim was to compare the radiological and clinical results of patients with rheumatoid arthritis who underwent lumbar rigid stabilization or dynamic stabilization with Polyetheretherketone rod (PEEK).MethodsPatients with degenerative lumbar spine disease with rheumatoid arthritis who underwent dynamic stabilization between 2013 and 2015 and rigid stabilization between 2010 and 2012 were evaluated radiologically for adjacent segment disease, proximal junctional kyphosis, system problem (nonunion, screw loosening, instrumentation failure, pull out). It was also compared according to both the revision rates and the Visual Analog Scale and Oswestry Disability Index scores at the 12th month and 24th month.ResultsThe difference of decrease in Visual Analog Scale and Oswestry Disability Index scores from preoperative to 12th month between patients who underwent dynamic stabilization and rigid stabilization was statistically insignificant. However, there was a significant difference of increase in Visual Analog Scale and Oswestry Disability Index scores between the 12th month and 24th month of patients who underwent rigid stabilization, compared with patients with dynamic stabilization. In patients with dynamic stabilization, the problems of instrumentation were seen less frequently. Revision rates were high in patients with rigid stabilization when compared the patients with dynamic stabilization.ConclusionRadiological and clinical outcomes in patients with rheumatoid arthritis operated with dynamic stabilization are more significant when compared to rigid stabilization. These patients have lower pain and disability scores in their follow up periods. Revision rates are lower in patients with dynamic stabilization.     

Relationship between HLA-DRB1 and DQ alleles and the genetic susceptibility to type 1 diabetes

Objective　To study the relationship between human leukocyte antigen (HLA)-DRB1 and DQ alleles and the genetic susceptibility of type 1 diabetes in North Chinese children. Methods　Polymerase chain reaction (PCR) techniques were used to amplify the second exon of DRB1 and DQ alleles, after which sequence specific olignucleotide probe (SSOP) dot blot hybridization techniques were used to analyze the amplified products. Results　DRB1*0301, DQA1*0301, DQB1*0201 alleles and DRB1*0301-DQA1*0501-DQB1*0201 haplotype were significantly increased in patients, while DQA1*0103 and DQB1*0601 alleles were significantly increased in controls. The distribution of DR4 and DR9 haplotypes in patients and controls were not significantly different, but DR3/DR4 and DR4/DR9 heterozygotes were significantly increased in patients. Conclusions　DRB1*0301, DQA1*0301 and DQB1*0201 confer susceptibility while DQA1*0103 and DQB1*0601 confer protection to type 1 diabetes. DRB1*0301-DQA1*0501-DQB1*0201 haplotype offers a predisposition to type 1 diabetes in North Chinese. Although the distribution of DR4 and DR9 in patients and controls had no significant difference, DR3/DR4 and DR3/DR9 heterozygotes were significantly increased in patients, showing that the susceptive effects of DR3 and DR4 or DR4 and DR9 haplotypes could be added up.