Genetic origin of Behçet's disease population in Denizli, Turkey; population genetics data analysis; historical demography and geographical perspectives based on ß-globin gene cluster haplotype variation.

In our study, we aimed to investigate the possible genetic drift, relationships, expansion and historical origin based on haplotype frequencies of the ß-globin gene cluster of normal and Behçet's disease (BD) population in Denizli, Turkey. We examined blood DNA samples obtained from our DNA bank. The association of population genetic parameters such as haplotypes, diversity, differentiation, Hardy-Weinberg equilibrium and demographic analysis for two populations was performed by Arlequin ver. 3.5. Our results show that both populations have high similarity in genetic parameters in terms of development and expansion based on haplotype diversity through the history. We found that historical levels of gene flow were significantly higher between the two populations. According to historical population, growth parameter of τ values for normal and BD populations dated approximately 42 000 to 38 000 ybp, respectively. In conclusion, historically, two populations show similar genetic parameters and unimodal growth distribution. Our results are consistent with the view that the BD may have occurred in area, independent from Silk Road.

Assessment of Palliative Care in Lung Cancer in Turkey.

OBJECTIVE: To investigate the symptoms of lung cancer in Turkey and to evaluate approaches to alleviate these symptoms. SUBJECTS AND METHODS: This study included 1,245 lung cancer patients from 26 centers in Turkey. Demographic characteristics as well as information regarding the disease and treatments were obtained from medical records and patient interviews. Symptoms were evaluated using the Edmonton Symptom Assessment Scale (ESAS) and were graded on a scale between 0 and 10 points. Data were compared using the χ2, Student t, and Mann-Whitney U tests. Potential predictors of symptoms were analyzed using logistic regression analysis. RESULTS: The most common symptom was tiredness (n = 1,002; 82.1%), followed by dyspnea (n = 845; 69.3%), appetite loss (n = 801; 65.7%), pain (n = 798; 65.4%), drowsiness (n = 742; 60.8%), anxiety (n = 704; 57.7%), depression (n = 623; 51.1%), and nausea (n = 557; 45.5%). Of the 1,245 patients, 590 (48.4%) had difficulty in initiating or maintaining sleep. The symptoms were more severe in stages III and IV. Logistic regression analysis indicated a clear association between demographic characteristics and symptom distress, as well as between symptom distress (except nausea) and well-being. Overall, 804 (65.4%) patients used analgesics, 630 (51.5%) received treatment for dyspnea, 242 (19.8%) used enteral/parenteral nutrition, 132 (10.8%) used appetite stimulants, and 129 (10.6%) used anxiolytics/antidepressants. Of the 799 patients who received analgesics, 173 (21.7%) reported that their symptoms were under control, and also those on other various treatment modalities (dyspnea: 78/627 [12.4%], appetite stimulant: 25/132 [18.9%], and anxiolytics/antidepressants: 25/129 [19.4%]) reported that their symptoms were controlled. CONCLUSION: In this study, the symptoms progressed and became more severe in the advanced stages of lung cancer, and palliative treatment was insufficient in most of the patients in Turkey.

THE RELATIONSHIP BETWEEN CONGENITAL HEART DEFECTS AND e-NOS GENE IN DOWN SYNDROME.

The aim of the study was to compare the effects of three eNOS gene polymorphisms associated with congenital heart defects, between Down syndrome patients with and without cardiac anomalies. Transthoracic echocardiographic examinations and eNOS single-nucleotide polymorphisms were investigated on seventy-five patients, prospectively. The frequencies of mutant alleles in the eNOS promoter (the -786T/C polymorphism) and exon 7 mutant alleles (the 894G--->T polymorphism) were significantly higher in Down syndrome patients with and without cardiac anomalies. The frequency of the intron GIOT polymorphism did not significantly differ between patients with and without cardiac anomalies. We found a significant relationship between eNOS gene polymorphisms and the congenital heart defects in patients with Down syndrome. Screening for the presence or absence of eNOS polymorphisms may be useful to obtain preliminary data on the risk of congenital heart defects in patients with Down syndrome.

Correlation of astrocyte elevated gene-1, basic-fibroblast growth factor, beta-catenin, Ki-67, tumor necrosis factor-alfa with prognostic parameters in ductal carcinomas and ductal intraepithelial neoplasms.

BACKGROUND: Breast cancer is the second most frequent cancer in the world. Although it is widely accepted that the etiology of breast cancer includes both genetic and environmental factors, the molecular mechanism of its development and progression remains poorly understood, and thus far, no specific signature of breast cancer gene expression has been reported to allow for patient-tailored therapy strategies. Hence, it is of great clinical value to further understand the molecular mechanisms underlying the progression of breast cancer and to identify effective early markers for the diagnosis and prognosis of the disease as well as novel therapeutic targets. MATERIALS AND METHODS: This study was conducted on a total of 90 paraffin-embedded breast tumor samples. Immunohistochemical stains for astrocyte elevated gene-1 (AEG-1), basic-fibroblast growth factor (b-FGF), beta-catenin, Ki-67, tumor necrosis factor-α (TNF-α) were performed on tissue microarray using standard procedures. Each patient age, grade, estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER-2) status, size, lymphovascular invasion, metastasis of lymph node (LNM), nipple and ductal hyperplasia areas were assessed. RESULTS: We observed significant relationship between the age and LNM or FGF (P = 0.018, 0.035, respectively). The relationship between histological and nuclear grade, LNM, ER, PR, HER-2 and prognostic parameters was evaluated in cases of ductal carcinomas (DC). There was a significant positive correlation between TNF-α, size, LNM (P ≤ 0.0001, 0.002, 0.005). We found that significant relationship between AEG-1 and TNF-α. There was a significant positive correlation between FGF and Ki-67 and negative correlation AEG-1. Although, FGF, TNF-α, AEG-1 staining in DC were observed higher than ductal intraepithelial neoplasms, this observation could not statistically (P ≥ 0.05). CONCLUSIONS: The present work aims to investigate the relationship between the expression of AEG-1, b-FGF, beta-catenin, Ki-67, TNF-α other prognostic parameters in DC and ductal intraepithelial neoplasm. We found a relationship between these factors.

High microsatellite and mitochondrial diversity in Anatolian native horse breeds shows Anatolia as a genetic conduit between Europe and Asia.

The horse has been a food source, but more importantly, it has been a means for transport. Its domestication was one of the crucial steps in the history of human civilization. Despite the archaeological and molecular studies carried out on the history of horse domestication, which would contribute to conservation of the breeds, the details of the domestication of horses still remain to be resolved. We employed 21 microsatellite loci and mitochondrial control region partial sequences to analyse genetic variability within and among four Anatolian native horse breeds, Ayvacik Pony, Malakan Horse, Hinis Horse and Canik Horse, as well as samples from indigenous horses of unknown breed ancestry. The aims of the study were twofold: first, to produce data from the prehistorically and historically important land bridge, Anatolia, in order to assess its role in horse domestication and second, to analyse the data from a conservation perspective to help the ministry improve conservation and management strategies regarding native horse breeds. Even though the microsatellite data revealed a high allelic diversity, 98% of the genetic variation partitioned within groups. Genetic structure did not correlate with a breed or geographic origin. High diversity was also detected in mtDNA control region sequence analysis. Frequencies of two haplogroups (HC and HF) revealed a cline between Asia and Europe, suggesting Anatolia as a probable connection route between the two continents. This first detailed genetic study on Anatolian horse breeds revealed high diversity among horse mtDNA haplogroups in Anatolia and suggested Anatolia's role as a conduit between the two continents. The study also provides an important basis for conservation practices in Turkey.

Quality of life improves after minimally invasive repair of pectus excavatum.

BACKGROUND: Pectus excavatum is the most common chest wall deformity. This deformity may cause physical limitations and psychosocial problems. In this study, we aimed to investigate the effect of minimally invasive repair of pectus excavatum on the quality of life. METHODS: This study included 88 patients, aged 18.44 ± 3.93 years (85.2% male), who underwent minimally invasive repair of pectus excavatum; 40.9% had an associated anomaly or disease, and 17.0% had scoliosis. The patients and their parents completed the patient and parent forms of the Nuss questionnaire modified for adults preoperatively and 6 months after the operation. RESULTS: The patients' median Nuss score increased from 31 (interquartile range 31-35) preoperatively to 43 (interquartile range 43-46) at 6 months after the operation (p = 0.000). The parents' preoperative score of 33 (interquartile range 29-36) increased to 38 (interquartile range 34-41; p = 0.000). Improvements in the physical and psychosocial component scores of the Nuss questionnaire were also significant in the patient (p = 0.000, p = 0.000, respectively) and parent forms (p = 0.005, p = 0.000, respectively). CONCLUSIONS: Minimally invasive repair of pectus excavatum significantly improved the physical and psychosocial wellbeing of patients. Longitudinal studies are needed to determine the long-term changes related to quality of life.

Validity and reliability of the Turkish version of the nuss questionnaire modified for adults.

BACKGROUND: Pectus excavatum (PE) is the most common chest wall deformity. The Nuss Questionnaire modified for Adults (NQmA) is a disease-specific health-related quality of life assessment tool for patients with pectus deformities. The aim of this study is to adapt the NQmA into Turkish. METHODS: Two hundred and sixty-five patients with PE were participated, with an age range of 14 to 29 years. All patients underwent a physical examination and had not undergone corrective surgery. The Turkish version of the NQmA was completed by patients and their parents. RESULTS: The content validity index based on expert opinions was 91% for the patient questionnaire and 96% for the parent questionnaire. The Cronbach's alpha value for the NQmA was found to be 0.805 for the patient questionnaire and 0.800 for the parent questionnaire. Exploratory factor analysis was used to assess construct validity. Two factors explained 51.1% of the total variance in the patient questionnaire (psychosocial: 31.145%, Cronbach's alpha=0.818; physical: 19.955%, Cronbach's alpha=0.862). In the parent questionnaire, two factors explained 51.422% of the total variance (psychosocial: 26.097%, Cronbach's alpha=0.743; physical: 25.325%, Cronbach's alpha=0.827). Construct validity was confirmed by confirmatory factor analysis. CONCLUSION: The Turkish version of the NQmA was found to be valid and reliable for the assessment of quality of life in patients with PE.

Argyrophilic nucleolar organizing region associated protein synthesis for cytologic discrimination of follicular thyroid lesions.

Fine needle aspiration biopsy (FNAB) of the thyroid gland is an important tool for preoperative diagnosis; however, its benefit is limited for follicular lesions. Nucleolar organizer regions (NORs) are ribosomal gene regions that stain with silver (Ag) when they are active. These regions can be used to differentiate neoplastic and non-neoplastic lesions. We used a new AgNOR technique to investigate FNAB of cases diagnosed as follicular adenoma and carcinoma. Fourteen cases of follicular thyroid carcinoma (FTC) and 28 cases of thyroid follicular adenomas (FA) were stained using the silver NOR-associated protein (AgNOR) technique. One hundred nuclei per sample were examined, AgNORs were counted, and the total AgNOR area/nuclear area (TNORa/Na) ratio of each cell was calculated. We found that cases with FTC had significantly higher TNORa/Na than cases of FA. Also, cases with FTC had significantly higher AgNOR counts than cases with FA. AgNOR counting may help discriminate FTC and FA by routine cytopathology before surgery.

A study on the morphological structure of syrinx in ostriches (Struthio camelus).

The aim of this study was to investigate the topographical, anatomical and histological characteristics of syrinx in five ostriches. It was observed that the syrinx in the ostrich was tracheobronchial type and was composed of three different cartilage groups, namely tympanum, cartilagines (cartt.) tracheosyringeales and cartt. bronchosyringeales. Tympanum and cartt. tracheosyringeales were formed from three and four cartilage rings, respectively, while cartt. bronchosyringeales was formed from three C-shaped cartilage rings. The pessulus did not contain any ossified or cartilaginous tissues and was made up of a double folded mucous membrane extending dorsoventrally from median walls of bronchus primarius into the cavum syringis.