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Copyright of Namık Kemal Tıp Dergisi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Viral Hepatitis Journal / Viral Hepatit Dergisi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objectives: Gene variation in the cholinergic muscarinic receptor 1 (CHRM1) has potential to become a candidate biomarker in the development of several disorders as well as drug response. In this study, a novel polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was developed to determine the C to A single nucleotide polymorphism at position 267 in the CHRM1 gene. Materials and Methods: A new reverse primer and a mismatched forward primer were designed to obtain 125 bp PCR products. The PCR products were then digested with the Hae III restriction enzyme to detect the rs2067477 polymorphism that comprises a C to A base change. The novel assay developed was tested in 51 Turkish schizophrenia patients. Results: The genotyping assay was successfully performed in patients with schizophrenia in order to confirm the accuracy and validity of this method. The frequency of CC, CA, and AA genotypes was 72.5%, 25.5%, and 2%, respectively. On the basis of these findings, the allele frequency of C was 0.85 and the allele frequency of A was 0.15. Conclusion: This genotyping assay is practical for screening the CHRM1 C267A polymorphism in pharmacogenetic studies. The present polymorphism may be used as a candidate biomarker to determine genetic susceptibility to related diseases and may contribute to the implementation of individualized drug therapy for M1-related diseases. [ABSTRACT FROM AUTHOR]

Objective: Our aim in this study is to define the histopathological subtypes, body site distribution, and incidence rates of single or multiple of BCCs. The study is conducted on patients from a single institution in Istanbul which has a migrant-receiving population reflecting that of the country overall. Method: We retrospectively analyzed data concerning 896 cases of BCC seen between 2014 and 2018. Data about patient demographics (age and sex), tumor diameter, its anatomic localization, histological type, presence of ulceration, lymphovascular/perineural invasion, and single or multiple tumor formations were retrieved from both the hospital's automated system and archived records of the pathology clinic. Results: Our univariate analysis showed that the patients' age, tumor size, and tumor multicentricity were all significantly related to their gender (p=0.011, p=0.001, and p=0.021, respectively). Further, age, male gender, and tumor size were all significantly related to tumor multicentricity (p=0.003, p=0.021, and p=0.001, respectively). BCC was most commonly found in male, and the diameters of the BCC tumors were also larger in male patients. Multiple BCC was more frequently seen in older and male patients, and the tumors had larger diameters in these groups. The nodular type of BCC was the most frequently seen type in all age groups. Conclusion: As our study is the first BCC study that has the greatest number of cases in Turkey and as Istanbul reflects the population of Turkey, it is important for the data of BCC cases in Turkey. [ABSTRACT FROM AUTHOR]

The number of Eimeria oocysts per gram faeces (OPG) and number of gastrointestinal nematod (GIN) eggs per gram faeces (EPG) depend on some factors such as gender, season and production systems. In order to determine the Eimeria infection and some gastrointestinal nematode burdens in Maltese, Gökçeada and Turkish Saanen goats, OPG, EPG and packed cell volume (PCV) were investigated. Maltese breed tended to have lower parasite burden than other goat breeds (P≤0.05). In the first observation, the prevalence of Eimeria and nematodes was 100% in Gökçeada breed, while the prevalence of Eimeria and the prevalence of GIN infection were 98% and 78%, respectively, in Maltese. It was determined that OPG and EPG burdens were significantly affected by the age of goats and the sampling date (P≤0.0193). It was seen that OPG burden decreased as the goats get older (P= 0.0157), while EPG value varied by the age of a goat in an unsteady manner (P<0.0001). The PCV values determined in the breeds ranged from 0.23 to 0.31. Statistically significant and positive correlation coefficients were determined between OPG and EPG r= 0.20 (P= 0.0036), and between the PCV value and OPG r= 0.41 and PCV and EPG r= 0.37 (P<0.0001). [ABSTRACT FROM AUTHOR]

Clouston syndrome (CS) is an ectodermal dysplasia characterized by nail dystrophy and hair defects and inherited in an autosomal dominant trait (OMIM #129500). It is caused by the mutations in GJB6 gene which is encoding connexin 30 (Cx30), a member of connexin family and included in the structure of gap junctions serving in intercellular interactions. In this paper, we present a 30-year-old mother and her 3-yearold daughter diagnosed with CS. Seven more family members were also diagnosed as having CS compatible with autosomal dominant trait. The disease causing heterozygous mutation c.31G>A (p.G11R) was found by Sanger sequencing in exon 5 of GJB6. The latter mutation has been reported in several different populations, however, yet it is reported for the first time in a Turkish family. Additionally, it is suggested that the history of cardiac conduction problems, such as cardiac arrest and sinus bradycardia might be related with mutant Cx30. (Turkderm 2015; 49: 164-6) [ABSTRACT FROM AUTHOR]

The aim of this review was to compile published data on factor V 1691 G-A alteration in a healthy Turkish population and also to stimulate the reporting of unpublished data, in order to create a map for factor V Leiden (FVL) in Turkey. From a total of 4276 healthy individuals from 26 different centers of Turkey, 345 FVL carriers (7.9%) were determined. FVL was strikingly high among newborns from two different centers (10.9%). [ABSTRACT FROM AUTHOR]

The article presents a case study of premarital genetic diagnosis revealing co-heredity nature of beta globin gene 25-26 del AA and 3'UTR+101 G-C. It discusses gene variation in beta thalassemia heterozygotes. It also includes information on topics including analysis of the beta globin gene and risk during prenatal genetic diagnosis.