Objectives/Hypothesis
Although numerous studies have examined epithelial remodeling in chronic rhinosinusitis (CRS), bone remodeling (osteitis) has only recently gained attention as a potential ...significant contributor to the pathophysiology of recalcitrant CRS. The purpose of this study was to compare gene expression profiles between osteitic bone and the adjacent diseased mucosa in patients with CRS to determine which genes affect mucosal and bony remodeling.
Study Design
Prospective experimental analysis.
Methods
Samples were obtained from sites of osteitic bone and overlying mucosa in CRS patients demonstrating osteitis on computed tomography and compared to healthy controls. The entire transcripted gene expression profile was determined by microarray following RNA isolation and compared between tissue samples. The expression differences were verified by reverse transcriptase‐polymerase chain reaction and immunohistochemical staining.
Results
Growth differentiation factor 5 and exostosin glycosyltransferase 1 were significantly upregulated and positively correlated with mucosal eosinophilic inflammation in osteitic bone. Fibroblast growth factor was significantly increased in osteitic bone. Additionally, colony stimulating factor was positively correlated with the degree of osteitis.
Conclusions
These findings will add a new perspective to our current understanding of the recalcitrant CRS.
Level of Evidence
NA Laryngoscope, 127:E85–E90, 2017
Objective: In the United States of America (USA) population, several studies focusing on frequencies of HLA alleles and their haplotypes have been reported, but HLA data in the USA population living ...in Dallas, Texas, are reported here for the first time. The aim of this study was to investigate the distribution of HLA in the populations of African American, European American, and Hispanic of Dallas, Texas and its genetic relatedness to the USA populations. Material and Methods: We present the HLA data available from the Transplant Donor Program database of Southwestern Medical Center at the University of Texas at Dallas. The comparative study of their allele frequencies, characteristic haplotypes, genetic distances with other Americans residing in the USA is complemented by neighbor-joining dendrogram and correspondence analysis. Results: The results of our study reflect a predominance of European and also Asian rather than African Ancestry for the Hispanic sample, especially those living in South of USA. Conclusion: As new information, our study results show that the largest genetic distances between all USA groups were those of the African Americans compared with each of the other groups in four major races.
Objectives: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The ...prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry's disease in chronic kidney disease.
Methods: The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 μmol/L/h.
Results: A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3 ± 15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60 mL/min/1.73 m
2
, 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients' α-Gal A enzyme was detected as 2.93 ± 1.92 μmol/L/h. 152 patients had low levels of α-Gal A enzyme activity (≤1.2 μmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry's disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female).
Conclusion: Fabry's disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry's disease.
Purpose: To evaluate the effects of topical everolimus and sunitinib on corneal neovascularization (CNV).
Methods: CNV was induced by application of silver nitrate to the cornea for all groups. Rats ...were divided into four groups of 10 rats each, and two corneas were obtained from each rat. Group I received 1 mg/ml everolimus, Group II received 0.5 mg/ml sunitinib, Group IV received no treatment (control group) and Group IV received 1% Dimethylsulfoxide (DMSO). All treatments were administrated twice daily for 2 weeks. The right corneas were used for extracellular signal-regulated kinase 1/2 (ERK 1/2) protein analysis by western blot analysis and the left corneas were used for ERK 1/2 and vascular endothelial growth factor-receptor (VEGFR-2) gene expression analysis by quantitative real-time PCR.
Results: VEGFR-2 mRNA expression levels (ΔCt, median, min-max) were reduced in the everolimus 1.0 (0.25-1.81) and sunitinib 1.06 (0.24-2.68) treated groups compared with the control 4.74 (1.02-14.74) and DMSO groups 7.41 (0.72-13.10). The expression of ERK 1/2 protein and mRNA levels were reduced in everolimus group compared with the control group (p < 0.05). These differences were not seen between the sunitinib and control groups.
Conclusıon: Topical administration of both everolimus and sunitinib reduced VEGFR-2 levels and inhibited CNV. In additon, everolimus reduced ERK 1/2 levels and seems to be more effective than sunitinib on CNV.
Objective: Vitiligo is a progressive skin pigmentation disorder, which may be acquired or hereditary, frequently seen, and may influence every age group. The melanocortin 1 receptor (MC1R) gene is a ...major determinant of human pigmentation. In our study, polymorphic differences of the MC1R gene at the DNA level has been investigated in patients with vitiligo.Materials and Methods: In our study, polymorphic differences of the MC1R gene at the DNA level has been investigated in vitiligo 60 patients, whose families had resided in the Thrace region of Turkey for at least three generations. The 60 volunteer healthy individuals have no other systemic and dermatological disease.Results: Totally, five types of Single Nucleotide Polymorphism (SNP) were found in each case and control groups: Val60Leu (G178T), Val92Met (G274A), Arg151Cys (C451T), Arg160Trp (C478T), and Arg163Gln (G488A). Comparing both groups in terms of genotype frequencies, no statistically meaningful difference was detected (p>0.05). However, assessing in terms of allele frequencies, a meaningful difference was found in the Arg163Gln (G488A) allele statistically in favor of the control group (p<0.05).Conclusion: It has been found in our study population that the MC1R gene Arg163Gln (G488A) allele may be a protective factor for vitiligo.
Coexistence of type 1 diabetes mellitus and Crohn's disesae Çetın, Deniz; Ünübol, Mustafa; Güney, Engin ...
The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology,
10/2013, Letnik:
24, Številka:
5
Journal Article
Adrenal incidentaloma was detected in an 81-year-old male patient and a 37-year-old female patient who had been diagnosed with essential thrombocytosis. Each patient′s Janus Kinase 2 (JAK2) V617F ...mutation was positive, and they were evaluated as having non-functional adrenal incidentaloma. The JAK2 activates the signal transducers and activators of transcription (STAT) proteins which then activate the phosphoinositol-3 kinases, Ras, mitogen-activated protein (MAP) kinases, and transcription. Constitutive activation causes cell proliferation and dysregulation of apoptosis. It is thought that STAT3 activation-mediated JAK family kinases have a central role in the solid tumor cell series. Permanent activation of STAT3 and STAT5 causes tumor cell proliferation, survival, metastasis, and an increase in tumor-mediated inflammation in solid and hematologic tumors. According to our literature screening, irregular JAK signaling, seen at the pathogenesis of many solid and hematologic tumors, has not been previously evaluated with regard to adrenal tumors. As a result, our cases are the first coexistence of JAK V617F mutation with adrenal incidentaloma in the literature. Because of this, we think that JAK2 mutation must be evaluated to clarify the etiology of adrenal incidentalomas.
Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever, abdominal pain, synovitis and pleurisy. The aim of this ...study was to determine the frequency and distribution of Mediterranean fever (MEFV) gene mutations and to investigate the clinical characteristics and genotype–phenotype correlation in patients with FMF in Aydın, a province in western Anatolia, Turkey. Therefore, we retrospectively analysed MEFVgene mutations in 383 patients with suspected FMF and the clinical features of 327 among them. The MEFV gene mutations were investigated using the reverse dot-blot hybridization technique. We detected 26 different genotypes and 11 different mutations. The most common mutations in our cohort were p.M694V (41.15%), p.E148Q (20.35%), p.M680I(G/C) (12.39%) and p.R761H (9.73%). Abdominal pain (86.2%), fever (80.7%), arthralgia (57.2%), vomiting (36.1%), arthritis (34.6%), fatigue (31.5%), anorexia (22.9%) and chest pain (19.0%) were the most prevalent clinical features in our patients. This is the first study from Aydın in which the distribution of MEFVgene mutations and clinical features were evaluated in patients with FMF. We found that the most common mutation was p.M694V in our region, while the frequency of the p.R761H mutation was higher compared to other regions of Turkey with respect to extracted data from previous similar studies. Presented results supported the clinical findings in the literature that the homozygous p.M694V and compound heterozygous genotype were associated with more severe courses in FMF patients.
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