Ammonia concentrations, litter quality, performance and some welfare parameters of broilers kept on different bedding materials.

1. Litter quality has been related to broiler performance, behaviour, welfare, dust and ammonia (NH3) emissions. Drier litter leads to a reduction in NH3 emissions and reduces the formation of foot- and hock lesions. However, maintaining good litter quality is often challenging. This study investigated the effects of different bedding materials on litter quality and NH3 concentrations at litter level, broiler performance, foot- and hock lesions, plumage cleanliness and breast skin irritation.2. A total of 2160 Ross 308 male broilers were randomly assigned to 36 floor pens. There were six replications for each of the following six litter treatments: wood shavings, flax, peat, maize silage, chopped wheat straw and flax pellets.3. For the total period, the highest feed intake and body weight was obtained for broilers housed on peat. The NH3 concentrations measured at litter level was highest for peat and chopped wheat straw at 36 d of age and numerically the lowest for flax at 30 and 36 d of age. Maize silage remained friable, but did not result in lower NH3 concentrations compared to wood shavings. Chopped wheat straw and wood shavings gave rise to the highest incidence of foot lesions at 38 d of age, while broilers kept on flax, peat, maize silage and flax pellets had the lowest incidence of foot lesions at the end of the rearing period.4. The results of the current study suggest a complicated relationship between the type of bedding material, litter conditions and NH3 volatilised from the litter.

R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever.

BACKGROUND AND OBJECTIVE: Familial Mediterranean fever (FMF) and chronic periodontitis are inflammatory diseases leading to an increase in the number of inflammasomes. To date, no published studies have reported on mutations in the Mediterranean fever (MEFV) gene in patients with chronic periodontitis, although the roles of MEFV gene mutations in FMF and FMF-associated amyloidosis (FMF-A) are well known. Therefore, the aim of this study was to evaluate the frequencies of MEFV gene mutations and serum amyloid A (SAA) and high-sensitivity C-reactive protein (hs-CRP) levels in patients with chronic periodontitis, FMF and FMF-A. MATERIAL AND METHODS: The study population included 122 patients with FMF and 128 subjects who were systemically healthy. Clinical periodontal parameters, including the plaque index, gingival index, probing pocket depth, clinical attachment level and percentage of bleeding on probing were recorded. Blood samples were obtained from patients with FMF and systemically healthy controls, and all mutations located on exons 2 and 10 of the MEFV gene were analyzed by DNA Sanger Sequencing, which is the gold standard. SAA and high-sensitive CRP levels were also assessed. RESULTS: Mean gingival index, percentage of bleeding on probing, probing pocket depth and clinical attachment level, and the levels of SAA and hs-CRP were higher in the FMF-A group than those in the FMF and control groups. The two most relevant mutations in patients with FMF were heterozygous M694V (46.2%), and heterozygous R202Q (32.7%). The frequencies of the homozygous M694V and R202Q mutations in the FMF-A group were 53.8% and 46.1%, respectively. The complex R202Q/M694V homozygous state led to an increased risk of chronic periodontitis (odds ratio: 3.6), and FMF-A (odds ratio: 7.6). CONCLUSION: This is the first study to report the R202Q mutation in patients with periodontitis. Furthermore, the MEFV gene-mediated inflammatory pathway increased serum acute phase reactants, and the changes in the R202Q and M694V could play a role in inflammatory-genetic diseases, such as FMF, FMF-associated amyloidosis and chronic periodontitis.

Next-generation sequencing analysis of the ARMS2 gene in Turkish exudative age-related macular degeneration patients.

Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. It is a complex disease with both genetic and environmental risk factors. To improve clinical management of this condition, it is important to develop risk assessment and prevention strategies for environmental influences, and establish a more effective treatment approach. The aim of the present study was to investigate age-related maculopathy susceptibility protein 2 (ARMS2) gene sequences among Turkish patients with exudative AMD. In addition to 39 advanced exudative AMD patients, 250 healthy individuals for whom exome sequencing data were available were included as a control group. Patients with a history of known environmental and systemic AMD risk factors were excluded. Genomic DNA was isolated from peripheral blood and analyzed using next-generation sequencing. All coding exons of the ARMS2 gene were assessed. Three different ARMS2 sequence variations (rs10490923, rs2736911, and rs10490924) were identified in both the patient and control group. Within the control group, two further ARMS2 gene variants (rs7088128 and rs36213074) were also detected. Logistic regression analysis revealed a relationship between the rs10490924 polymorphism and AMD in the Turkish population.

Effect of ARMS2 gene polymorphism on intravitreal ranibizumab treatment for neovascular age-related macular degeneration.

Age-related macular degeneration (AMD) is a leading cause of blindness in developed countries. The ARMS2 gene has been found to be associated with AMD. Currently, intravitreal ranibizumab (IVR) treatment is one of the widely used treatments for neovascular AMD. The aim of this study was to investigate the association between the genotype of ARMS2 rs10490924 polymorphism and IVR treatment responsiveness in patients with neovascular AMD. The study included 39 patients with advanced neovascular AMD (patient group) and 250 healthy individuals with exome sequencing data (control group). The patient group was divided into three subgroups: GG (N = 10), TG (N = 14), and TT (N = 15). Before IVR treatment, all patients had intraretinal or subretinal fluid or both. They received three monthly IVR-injection treatments. One month after the third injection, the patients were evaluated as either "responders" or "non-responders" based on the presence or absence of intraretinal or subretinal fluid or both. The patient subgroups TG and TT had an 8.56- and 39-fold higher risk of AMD, respectively, than patient subgroup GG had. The allele frequency was 0.537 and 0.10 in the patient and control groups, respectively. Within the patient subgroup TT, there was a significant difference between the "responders" and "non-responders" (P = 0.025). In conclusion, in neovascular AMD patients undergoing IVR treatment, TT genotype tended to be a better predictor of good short-term treatment response, compared to the GG and TG genotypes. Further studies using confirmed genetic biomarkers for individualized optimal treatments are required.

Novel visual system homeobox 1 gene mutations in Turkish patients with keratoconus.

The aim of this study was to screen the visual system homeobox 1 (VSX1) gene in Turkish patients with keratoconus (KC). The patient group consisted of 44 patients who had undergone corneal transplant surgery before the age of 30, for advanced and rapidly progressive KC. The control group comprised 250 healthy individuals. We detected two missense mutations, D144N and D295Y, in exon 2 and exon 5 of the VSX1 gene, respectively, using next-generation sequencing analysis. The pathologic effects of the D144N and D295Y missense mutations on protein function were determined with bioinformatic analysis tools, SIFT, PolyPhen, and MutationTaster. Aspartic acid at the 144th position was more preserved among species than aspartic acid at the 295th position of the VSX1 protein. In the control group, five different genetic variations were detected, two of which (rs8123716 and rs12480307) were synonymous with variations in the patient group. Our results suggested that the D144N and D295Y mutations might have a role in the pathogenesis of KC disease.

Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.

Stargardt disease (STGD) is an inherited genetic eye condition involving bilateral macular dystrophy leading to progressive central vision loss. It is the most common form of autosomal recessive juvenile macular dystrophy. In this study, ELOVL4 and PRPH2 genes were analyzed in 30 STGD probands for genetic variations using next-generation sequencing. In the patient group, two genetic variants in exon 6 of ELOVL4, and three in exon 3 of PRPH2 were detected. All sequence modifications in both ELOVL4 and PRPH2 were recorded, including those of a non-pathogenic nature. In the control group, four different genetic variations were detected in ELOVL4, and five in PRPH2. STGD patients of different ethnicities may carry distinct ELOVL4 and PRPH2 sequence variants. We believe that the genetic variations identified in this study may be related to STGD etiopathogenesis.

Vitamin D receptor gene polymorphisms and male breast cancer risk in Turkish population.

PURPOSE: Male breast cancer (MBC) is a rare disease. However, as global populace ages, there is a trend for MBC increase. Although its etiology is still unclear, constitutional, environmental, hormonal (abnormalities in estrogen/androgen balance) and genetic (positive family history, Klinefelter syndrome, mutations in BRCA1 and BRCA2) risk factors are already known. One potential target is the vitamin D receptor (VDR). We have investigated whether polymorphisms in the VDR gene are associated with altered MBC risk in a Turkish population. METHODS: We recruited 25 men with known breast cancer and 96 men selected from blood donations. Polymorphic sites in VDR gene ApaI (rs7975232), TaqI (rs731236) and FokI (rs10735810) were determined by polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) analysis. RESULTS: The unconditional logistic regression analysis demonstrated no significant association for the VDR ApaI (p=0.70), TaqI polymorphism (p=0.88) and FokI polymorphism (p=0.075). CONCLUSION: Our results do not support potential effects of VDR polymorphisms on MBC risk and possible differential effects of receptor status of the tumor. However, further studies focusing on the influence of polymorphisms and haplotypes on VDR functionality, activity and concentration are needed.

Variability in the Echinococcus granulosus cytochrome C oxidase 1 mitochondrial gene sequence from livestock in Turkey and a re-appraisal of the G1-3 genotype cluster.

Investigations into the genetic strains of Echinococcus granulosus parasites occurring in sheep and cattle in Turkey were undertaken. A total of 112 hydatid cysts were investigated from sheep (100 isolates) derived from widely distributed sites within Turkey as well as from cattle (12 isolates) from the Turkish province of Kars. The parasite genotypes in these isolates were determined by DNA sequencing of part of the mitochondrial Cytochrome C oxidase 1 (cox1) gene. Haplotypes were identified which corresponded clearly to the previously described strain G1 in a total of 107 isolates, including 98 isolates from sheep and 9 isolates from cattle. Five isolates, including 2 sheep and 3 cattle, were determined to belong to the G3 genotype. Parasites of the G3 genotype were identified only in isolates derived from animals in the eastern regions of Turkey. While the majority of the isolates described here had haplotypes corresponding to the G1 genotype, none matched exactly the G1 sequence that was defined in previous studies. Analysis of all GenBank entries for E. granulosus cox1 sequences representing G1, G2 and G3 genotypes identified substantial microsequence variability. G1 and G3 could be distinguished as separate strains, however, the existence of G2 as a separate strain could not be supported. Rather, this can be regarded as a microsequence variation of G3.