Effects of PAX9 and MSX1 gene variants to hypodontia, tooth size and the type of congenitally missing teeth.

ooth agenesis, affecting up to 20% of human population, is one of the most common congenital disorder. The most frequent form of tooth agenesis is known as hypodontia, which is characterized by the absence of one to five permanent teeth excluding third molars. It was considered that hypodontia is especially related with gene mutations which play role in tooth formation. Additionally mutations in PAX9 and/or MSX1 have been identified as the defects responsible for missing permanent molars and second premolars. In some studies it was also found that PAX9 and MSX1 gene mutations may change tooth size. Therefore  in this study all of these factors were investigated. Thirty one patients and 30 controls were enrolled to the study. Information about tooth sizes and type of congenitally missing teeth were collected. MSX1 and PAX9 gene mutations were investigated by direct sequencing. Results were evaluated statistically. As a result, 22 variations were detected in PAX9 in which 18 of them are novel. In addition, 7 variations were found in MSX1 in which 5 of them are novel and one of them lead to amino acid change. Statistically significant relations were found between detected variations and tooth sizes. Any relation between mutations and type of congenitally missing teeth were not detected. In conclusion, especially new mutations which may cause hypodontia, effect tooth size and type of congenitally missing teeth, should be investigated with other researchers for clarifying the mechanism.

Effects of genetic factors to stent thrombosis due to clopidogrel resistance after coronary stent placement.

Stent thrombosis (ST) is considered as a multifactorial problem which is mostly occurs due to clopidogrel resistance. It may be due to some CYP450 enzyme deficiencies which play role in clopidogrel metabolism. Therefore the aim of this study is to detect the mutations in CYP2C19 and CYP2C9 genes which may cause ST, and to investigate the relation between other risk factors and ST. 50 individuals who have stent thrombosis and 50 individuals who haven't got any complication were enrolled as patient and control group respectively. *2,*3,*4,*5,*17 mutations in CYP2C19 gene and *2 ve *3 mutations in CYP2C9 gene were investigated with RT-PCR. Clopidogrel and aspirin resistance were investigated with multiple electrode platelet aggregometry. Results were evaluated statistically. CYP2C19*2 mutation was found statistically higher in patients (% 18), whereas CYP2C19*17 was found statistically higher in controls (% 36)(p<0.05). Additionally, it was found that patients who have clopidogrel and/or aspirin resistance also have CYP2C19*1/*2 or CYPC19*2/*2 genotype. These relations were also found statistically significant. (p=0,000005 for clopidogrel resistance and p=0,000059 for aspirin resistance). In conclusion, it was suggested that there is a relation between CYP2C19*2 mutations and ST due to clopidogrel resistance, and CYP2C19*17 may have a protective role in this process. The use of novel and more potent drug or high clopidogrel maintenance dosing before stent implantation may be beneficial treatment options for antiplatelet therapy in CYP2C19*2 carriers.

Morphometric features of the thyroid gland: a cadaveric study of Turkish people.

BACKGROUND: Although racial and ethnic variations in the morphology of anatomical structures are defined well, the size, shape, and weight of the thyroid gland have not previously been reported in Turkish people. This study provides data about the morphometric features of the thyroid gland, thyroid lobes, and pyramidal lobe, and highlights some anatomical variations in people from the Marmara region in Turkey. MATERIAL AND METHODS: The material for the present study consisted of thyroid glands obtained from 75 male and 15 female adult cadavers aged between 18 and 80 years. A dissection was carried out and the thyroid glands were exposed. The glands were weighed and measured according to the various age groups of the patients. RESULTS: A pyramidal lobe was found to be present in 57.8% of the cadavers (52/90). During midline dissection of the neck 2 males out of 90 cadavers, giving an incidence of 2.22%, did not show an isthmus. The mean thyroid weight was 26.11 ± 8.14 g. In males it was 26.93 ± 7.96 g while in females it was 21.93 ± 7.98 g. CONCLUSIONS: This is the first reported morphometric study on cadaveric thyroid glands from Turkey and it highlights individual and ethnic/racial variations. In order to perform safe and effective surgery and for the accurate diagnosis of thyroid disorders, knowledge of normal anatomy and the variations of the thyroid gland are essential.

Factors affecting uptake of influenza vaccination among family physicians.

AIM: The aim of this study was to determine the factors that influenced the decisions of family physicians working in primary care health services to receive influenza vaccines. METHODS: This cross-sectional study was performed between June 2014 and September 2014. Physicians were reached electronically via e-mail. A self-reported questionnaire consisting of 50 items covering potential factors that may have influenced their decision to receive vaccination, including perceived risk, severity of the perceived risk, perceived benefit, perceived barriers, cues to action, attitudes, social influences and personal efficacy, was administered to the study participants. Cronbach's alpha for the questionnaire was determined to be 0.92 in the pilot study. RESULTS: The response rate was 27.5% (n=596). Regularly vaccinated physicians accounted for 27.3% of the responses. The median age was 41.84±7.80, and the median working duration of the group was 17.0±7.8years. The factors that led to increased vaccination compliance (p<0.05) included working duration, age, chronic disease history and living with a person over 65years. Nearly all major domains, i.e., perceived risk, severity of the perceived risk, perceived benefit, perceived barriers, attitudes, social influences and personal efficacy, there were differences between the compliant and noncompliant groups. Multi-regression analyses revealed that risk perception, organizational factors such as time and convenient vaccination increased vaccine compliance. However, the perceived necessity to be vaccinated annually had a negative effect on vaccination behaviour (p<0.05). CONCLUSION: Strategies aimed to increase the flu vaccination ratio among physicians that do not take different factors into account are more likely to be unsuccessful. In the planning and implementation of strategies aiming to increase the vaccination ratio among physicians, it is both necessary and important to take into account behavioural and organizational factors.