Search

Copyright of SPORMETRE: The Journal of Physical Education & Sport Sciences / Beden Eğitimi ve Spor Bilimleri Dergisi is the property of SPORMETRE: The Journal of Physical Education & Sport Sciences 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:The aim of the study was to present a new genetic association presenting with gastrointestinal tract malformations (GTMs) and familial exudative vitreoretinopathy (FEVR)-like disease and review the genetics of Hedgehog signaling.Materials and Methods:Three neonates were diagnosed with FEVR-like retinal vascular disease upon routine ophthalmological examination during hospitalization in the neonatal surgical intensive care unit for GTMs. Genetic analysis of the neonates was performed.Results:Gestational age of the neonates was 39, 38, and 39 weeks and birth weights were 3,500, 3,600, and 3,300 grams, respectively. All six eyes of the three infants were treated by laser photocoagulation. Recurrence was not seen in any of the eyes. Genetical analysis of all the neonates diagnosed with FEVR-like disease revealed defects in the Hedgehog pathway.Conclusion:FEVR is a genetically well-defined retinal vascular disease. The current study is the first to show an association between FEVR-like retinal vascular disease and GTMs. This study demonstrates the importance of the Hedgehog pathway in retinal vascular and gut development.

In this study, genetic relationship of ISSR markers of seven endemic Inula species distributed in Turkey was carried out. Plant samples were collected from different regions of Turkey in 2013 and gDNA was obtained by DNA isolation from green leaves. Genetic relationship between species was determined using 12 ISSR primers. PCR products were run on agarose gel electrophoresis and visualized under UV light. All gel images were examined and the presence and absence of polymorphic bands were scored as 0 and 1. A total of 85 bands were obtained from the primers. Of these, 74 polymorphic and 11 monomorphic bands were obtained. The total polymorphism rate was found to be approximately 87.05%. The phylogenetic tree and genetic distances between species were calculated using the PAUP 0 4.0b10 analysis program. According to the distance matrix, the genetic distance was found between the closest Inula helenium subsp. orgyalis and Inula helenium subsp. vanensis (0.29851), while the farthest between Inula sarana and Inula macrocephala (0.56000) species. The phylogenetic tree was obtained using the UPGMA algorithm, and the tree consisted of two groups. The results were compared with the morphological, palynological nrDNA and cpDNA results of the past. Our findings supported previous studies.

Copyright of Van Tip Dergisi is the property of Yuzuncu Yil University, Faculty of Medicine 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.)

This study was carried out on 113 seed orchards which of removed 20 orchards established before 2003 of Brutian pine (Pinus brutia Ten.) and Black Pine (Pinus nigra Arnold.) by collected data from The Research Directorate of Forest Tree Seeds and Tree Breeding of Turkey. Effective number of clones and gene diversity were estimated in the orchards to contribute tending and other management practices of present seed orchards and establishment of the future orchards. While there were large differences among orchards and within species, averages were 40.7 for clone numbers, 32.0 (85.1% of clone number) for effective number of clone, and 0.982 for gene diversity in active seed orchards of Brutian pine. They were 32.3, 28.2 (89.6%) and 0.981 in in active seed orchards of Black pine, respectively. Removed seed orchards had lower averages of clone number, effective number of clone and gene diversity than active seed orchards in the both species opposite to coefficient of variation of ramet numbers used in establishment. Results of the study were discussed for establishment, breeding and tending practices of seed orchards to contribute management of the seed orchards.

Copyright of Mersin Üniversitesi sağlık Bilimleri Dergisi is the property of Mersin University 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.)

Tomato is among the most widely produced and consumed vegetable crops not only in Turkey but also in the world. During production of tomato, there are several fungal, bacterial and viral pathogens causing diseases on the valuable vegetable plant. Among them, bacterial canker and wilting pathogen makes significant crop losses in tomato plants. To control such bacterial pathogen, developing resistant varieties is an effective method where M39 and M3-15 mutant plants produced by ethyl methanesulfonate (EMS) chemical mutation from NCEBR3 cultivated tomato line. To date, there is neither resistant plant to bacterial canker and wilting pathogen nor effective biological control agents known. In this study, we aim to reveal accumulation of Pathogenicity Related-1 (PR1) gene which has an important role in resistant M3-9 and M3-15 mutant plants is working under resistant gene(s). Studies have unrevealed that the PR1 gene encodes PR1 proteins in M3-9 and M3-15 mutant plants from inoculation to 5th days post inoculation, however, a little PR1 protein accumulation was detected in susceptible original NCEBR3 plants where PR1 protein was not enough to prevent bacterial canker and wilt pathogen. These results indicate resistant gene(s) have resistance mechanisms where PR1 gene and their encoded PR1 proteins accumulated in the two promising mutant plants. Resistance gene mapping studies have been continuing to clone resistance gene and its signaling pathways. The cloned resistance gene(s) will genetically enable to control such important bacterial pathogen causes bacterial cancer and wilting disease on tomatoes. All collected data encourage that the most appropriate method to control bacterial cancer and wilt disease is to develop genetically resistant tomato plants. Producing genetically resistant tomato varieties is long-term process, and the promising resistant tomato plants are created by reverse genetics. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the genetic outcomes of obstructive/non-obstructive azoospermic Turkish men. Material and Method: Patients underwent anamnesis, examination, hormonal values, semen analysis, blood karyotype analysis, Y chromosome microdeletions, cystic fibrosis transmembrane conductance regulator gene mutation, scrotal color doppler, micro testicular sperm extraction. Results: The semens were 2.2±1.5/ml, pellet (-) and azoospermic. Grade I-III reflux (-), varicoceles, atrophic testicles and phenotypic stigmas were observed. FSH, total testosterone, prolactine were measured as 24.6±14.4 mIU/L, 9.83±7.35 ng/ml and 10.37±3,45 ng/mL, respectively. The genetic diagnostic rate was 34.4%. Chromosomal structural and numerical abnormalities were 4.08 % and 19.92 %, respectively, while the structural and numerical abnormality rate was 1.12%. Karyotype 46, XY was detected at a rate of 65.5 % followed by 47, XXY as the second most frequent karyotype at 17.9 %. Moreover, karyotype 46, XX/SRY (+) was detected at a rate of 1.4%, karyotype 45, XO/SRY (+) was identified at a rate of 1.4% in males and karyotype 47, XYY was detected at a rate of 0.3 %. Structural chromosomal abnormality 9qh (+) with inversion appeared at a rate of 2.5%. Chromosomal Y chromosome microdeletion was detected as 7%. Absence of vas deference was observed as 4.48%. Heterozygous mutation carriage of CFTR was detected at a rate of 0.84% within the whole series. Conclusion: While genetic diagnoses prevailed at high rate and with a different range of diversity among etiological factors in NOA/OA Turkish men, it was also noted that chromosomal numerical abnormalities and structural as well as structural/numerical abnormalities gained a major ground in etiology. [ABSTRACT FROM AUTHOR]

The objective of this study were to examine genetic parameters in some traits such as flowering time, plant height, grain/ear rate, grain moisture and thousand grain weight in maize, to determine the combining ability of the lines and hybrids and thus make selections for future studies. Eight maize lines were crossed according to Griffing Method III in 2016 and 2017, obtained fifty six maize hybrids were tested in 2017 and 2018 in Antalya and Sakarya locations in randomized complete block design using three replications. In the study, genotypes, general combining ability (GCA) and special combining ability (SCA) effects were found to be significant, while reciprocal effects were found to be insignificant. It is determined that additive gene effects were more important in these traits. The highest narrow (0.82) and broad sense heritability (0.90) were detected from flowering trait, while the lowest values were determined as 0.20 and 0.27 in grain/ear ratio, respectively. Due to their high degree of inheritance, it is envisaged that direct selection can be made in the investigated characteristics except grain / ear rate. As a result of the study, M1, M2, M3 and A1 lines selected for earlines and lower grain moisture content. S1 and S2 lines selected for higher plant height. M3 and A1 lines selected for higher grain/ear rate and A1, S1 and M3 lines were selected for higher seed weight. These lines transferred to the breeding programs. [ABSTRACT FROM AUTHOR]

MELAS (Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes) is a multisystemic muscle disease. Clinical findings are presented with myopathy, eye findings, sensorineural hearing loss, epilepsy, headache, stroke, endocrinopathies. The mutations responsible for the disease are A3243G, T3271C, C3093G, A3252G, C3256T, A3260G, T3291C, T3308C, A13514G, respectively. In this article, six patients with MELAS from a family with different symptoms A3243G mutation are presented to draw attention to the clinical manifestations of the disease. [ABSTRACT FROM AUTHOR]

The purpose of the current study is to portray the twin research characteristics as a valuable information source to the fields of psychiatry and psychology. Twin research focuses on determining the boundaries between environment and heredity. The emphasis on the importance of genetic and environmental factors in current twin researches is remarkable and constitutes one of the main highlights of this review. For researchers, twin studies involve mainly prominent components in the planning and designing of twin research. These components are 'the reasons for twin research preference, 'basic underlying assumptions,' 'limitations,' and 'current approaches to be preferred' in twin research. For this reason, these main components will be discussed. Fourteen twin research designs are defined, which were prescribed by the proponents of twin research, and the findings are also indicated. It is seen that some of these researches are frequently preferred in the field, but some of them are carried out in a limited number due to sampling difficulties. However, when all research designs are examined concerning the literature review, it can be concluded that specifying the interactions of genetics and environment in twin research still maintains its importance researchers about the limitations of twin research. [ABSTRACT FROM AUTHOR]

Bu çalışma ile Karesel Atama Problemi (KAP) olarak bilinen ve çok sayıda konum ve tesis içeren örnekler için en iyi çözümleri hala bulunamamış olan NP-zor bir kombinatoriyal problem için yeni bir paralel sezgisel algoritma önerilmektedir (paralel-tabu-KAP algoritması). İki safhası bulunan paralel-tabu-KAP algoritması, genetik algoritma safhasında efendi işlemcide bulunan popülasyon üzerinde sezgisel tabu-arama algoritmasının parametrelerini jenerasyonlar ile eniyilerken, tabu-arama safhasında işçi işlemciler üzerinde verilen problemin sonucunu farklı başlangıç noktaları ile eniyilemektedir. Yerel takılmaları, aramaya başka noktalardan yeniden başlayarak engelleme özelliğine sahip olan paralel-tabu-KAP algoritması, tek işlemci ile çalışan ve parametreleri statik olarak önceden tanımlanmış olan versiyonlarına göre daha iyi sonuçlar elde etmektedir. Yüzün üzerindeki bençmark problem ile yapılan deneyler sonucunda, ortalama %0.05’lik bir sapma elde edilmiştir. Bu sonuçlar, paralel-tabu-KAP algoritmasının kendi sınıfındaki sezgisel algoritmalar içerisinde KAP’ın çözümü için önerilen en iyi algoritmalar arasında olduğunu göstermektedir.

Objective: The aim of the study was to retrospectively evaluate 10 patients who had been diagnosed with neonatal diabetes mellitus (NDM) and followed at our hospital between January 2007 and September 2017. Material and Methods: The study group consisted of 10 pediatric patients diagnosed with NDM and followed and treated at the SBÜ Ankara Child Health and Disease Hematology Oncology Training and Research Hospital between January 2007 and September 2017. The patients' demographic information, medical records and treatments were evaluated. Results: Two patients (20%) were male and 8 (80%) were female. The median age of diagnosis was 12.5 days (range 4 to 68.25 days). Three (30%) patients had no consanguinity and seven (70%) patients had a history of cousin marriages in their parents. The most common complaints were frequent urination, fatigue, vomiting and hyperglycemia detected with laboratory investigations performed due to low birth weight. Genetic mutation was detected in three (30%) patients. These mutations were homozygous mutation in the SLC2A2 gene, homozygous mutation in the IPF1 gene, and homozygous deletion in the exon 3 in the INSR gene. One patient was diagnosed with the Wollcott-Rallison syndrome and another was diagnosed with the Fanconi-Bickel syndrome. At the time of admission; insulin infusion therapy and hydration were used for 9 (90%) patients and subcutaneous (sc) insulin therapy for one (10%) patient. The hyperglycaemia was taken under control and then sc insulin (short or moderate duration of action) therapy was given. Insulin pump therapy was tried in one patient. There was no patient who took oral antidiabetic therapy. Conclusion: In the first 6 months of life, NDM should be kept in mind in cases of hyperglycaemia requiring insulin therapy for more than two weeks. Genetic analysis should be performed on all patients diagnosed with NDM and the treatment options should be reassessed according to the outcome. All patients, including those with transient NDM, should be followed up. Neonatal DM is an important life-threatening disease and needs further study regarding the frequency, clinical course and treatment. [ABSTRACT FROM AUTHOR]

Because of the heterogeneity of the clinical picture and etiology, the diagnosis of cerebral venous sinus thrombosis is often skipped and, even if diagnosed, factors that are usually subclinically contributing are missed or ignored. This condition, which accounts for 1% of all cerebrovascular diseases, is often seen in young adults, but the clinical diagnosis may be delayed due to the heterogeneous clinical condition ranging from isolated headache to coma.It has been shown that trigger elements such as head trauma, delivery, systemic infections cause sinus thrombosis in individuals with genetically increased prothrombotic risk. In this article, we reviewed the effects of complicating factors such as lightning strike and infections in a twenty two years old male patient having underlying genetic predisposition who later diagnosed with cerebral sinus venous thrombosis. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi 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.)

Attention deficit hyperactivity disorder (ADHD) is a heterogeneous neurodevelopmental disorder characterized by inattention, hyperactivity and impulsivity. Genetic, social and physical factors are thought to be influential in the etiology of ADHD. In this article, it is aimed to review the studies investigating the genetic orientation of ADHD. For this purpose, Pubmed, Google Academic and other online search engines were scanned and the results were combined with the basic information. Genetic linkage studies, candidate-gene association studies, genome-wide association studiesand copy number variation studies were adressed in this review. The challenges of the results on genetical factors could be related with the heterogeneity of the disorder, the effects of epigenetic changes caused by genetic and environmental factors, and the statistical limitations of the studies. In order to overcome these limitations, it is clear that the larger studies should address genetic and environmental factors at the same time. [ABSTRACT FROM AUTHOR]

Race and competition performance of horses, a quantitative character, is shaped by the influence of genetic and environmental factors. For this reason there are variations between individuals and populations. The genetic effect refers to the genotype capacity that is possessed by the gene from the mother and father of foal. Many environmental factors that affect performance include gender, age, birth weight, distance, handicap weight, runway type and structure, maternal age, prize, race or competition season, number of running horses, starting place, rider experience. The purpose of this review is to demonstrate factors affecting race and competition performance of horses. [ABSTRACT FROM AUTHOR]

Globozoospermi infertil erkek hastaların %0.1"inde gözlenen, spermin kendi başına oositi fertilize etme kabiliyetinin olmadığı bir teratozoospermi durumudur. Globozoosperminin spesifik etiyolojisi hala net değildir ve genetik faktörlerin etkili olması muhtemeldir. Bu derlemede güncel literatür bilgileri ışığında globozoospermiyi değerlendirmeyi amaçladık.

Purpose: To define the gene locus related with concomitant strabismus in a large exotropia family. Material and Method: A three-generation family including 31 individuals among which 17 members had basic exotropia and 3 members had intermittent exotropia with known genome-wide analysis was investigated. The data of genome-wide analysis was evaluated under the assumed pattern of autosomal dominant inheritance with incomplete penetrance which was supported by pedigree analysis. Detailed haplotype analysis of four regions on 3 chromosomes (chromosome 7, 13 and 18) which had positive lod scores in previous studies was performed. Results: The first region on chromosome 13 was excluded regarding haplotype analysis, but the second region could not be excluded because of the high homozigocity in the family. The region which had 200.000 bases on chromosome 18 could not be excluded as well. The region which had 9 Mb on 7p14.1 was common for all family members. 7p14.1 locus is considered as the most likely region responsible for the inheritance of strabismus in regard with familial inheritance and crossing-over pattern. Discussion: The 7p14.1 locus identified in this study is a novel site and it is different from the regions on chromosome 7 which were reported in previous studies. To the best of our knowledge, this is the first study demonstrating the presence of critical recombinations across three generations and will shed light for further studies which will define the specific gene. (Turk J Ophthalmol 2013; 43: 407-12)

With this study, we propose a novel parallel robust tabu-search algorithm (Parallel-Tabu-QAP) for the NP-Hard Quadratic Assignment Problem (QAP)of whose instances having large number of location and facilites have not been reported to be solved exactly so far. Parallel- Tabu-QAP algorithm that has two phases optimizes the parameters of tabu-search algorithm in its first phase by using genetic algorithms through generations. The individuals that have parameters of the tabu-search are optimized in a population that is located on a master processor. In the second phase, slave processors optimize the solution of the problem by restarting their search process in case of stagnations. With its stagnation prevention and parallel optimization talents, parallel-tabu-QAP algorithm is observed to obtain better results than its sequential and statically parameter-tuned counterparts. The algorithm has 0.05% deviation for the benchmark tests performed on more than 100 problem instances. These experimental results show that the parallel-tabu-QAP algoritm is one the best performing techniques in its heuristics algorithms class when compared with state-of-the-art QAP algorithms. [ABSTRACT FROM AUTHOR]

Objectives: It has been proposed that human platelet antigen- 1 (HPA-1) gene polymorphism is associated with coronary artery disease (CAD) and affects platelet function. We aimed to investigate the distribution of HPA gene polymorphism between angiographic CAD and a control group and the relation between HPA gene polymorphism and platelet aggregation. Study design: The study population consisted of 94 patients with angiographic CAD and 115 patients without angiographic CAD. Platelet aggregation was measured with impedance aggregometry on the fifth day of percutaneous coronary intervention (PCI). Platelet aggregation >480 AU*min was defined as the clopidogrel resistance group. Blood samples were obtained from all participants at discharge for investigating HPA- 1 gene polymorphism. Results: There was no significant difference in the distribution of HPA-1 gene polymorphism between the control and CAD groups (78.7% vs. 78.1% for A allele and 21.3% vs. 21.9% for B allele, p=NS). The analysis between groups with and without clopidogrel resistance revealed no significant difference in the distribution of HPA-1A and HPA-1B alleles between the groups (A allele 78.7% vs. 78.9% and B allele 21.3% vs. 21.1%, p=NS). In the CAD group, there were no significant differences in platelet aggregation between HPA-1A and HPA- 1B alleles (294+-240 vs. 259+-261 AU*min, p=NS). Conclusion: The distribution of HPA-1 gene polymorphism was not different in CAD patients compared to the control group. HPA-1 gene polymorphism was not associated with platelet aggregation or clopidogrel resistance assessed by impedance aggregometry in the CAD group.

A mosaic organism is composed of two or more genetically different cell populations which are derived from a homogenous zygote. Mosaicism can be easily observed in the skin, clinically. In the skin, mosaicism emerges in certain patterns and helps to make diagnosis of mosaic diseases. The pattern of cutaneous mosaicism depends on the type of the affected cell and their trajectory of migration during embryogenesis. The most common of these patterns was first described by Alfred Blaschko in 1901 and named as Blaschko lines. Mosaic patterns except Blaschko lines have also been described. Classic patterns of cutaneous mosaicism are classified in five groups. They are defined as Type 1 Blaschko lines, Type 2 blocklike pattern, Type 3 phylloid pattern, Type 4 patchy pattern without midline separation and Type 5 lateralization pattern. Mosaic phenotypes can be examined under two major group according to the underlying genetic mechanism as genomic and functional mosaicism. Genomic mosaicism emerges when a cell undergoes a de novo postzygotic mutation. It usually occurs by autosomal mutations. Apart from the exceptions genetic heritance is not seen. Functional mosaicism occurs from the changes in gene expression. Can be caused from X inactivation. In particular, inherited from mother to her daughter. In this article, we aimed to explain cutaneous mosaicism patterns, pathogenesis and some of the common mosaic dermatoses. In addition, when skin findings observed in the mosaic pattern, especially association with neurological, musculoskeletal and ophthalmologic abnormalities should be kept in mind. [ABSTRACT FROM AUTHOR]

Type 2 Diabetes Mellitus, continues to be a serious health problem throughout the world due to the dramatic increases in its prevalence, diversity of affected tissues and organs and also the economic burden on the health system. The clinical heterogeneity of type 2 diabetes which is a complex metabolic disease, is resulted from the diversity of environmental and genetic factors involved in the emergence of the disease and their interactions. To date, approximately 70 susceptibility gene was reported as associated with type 2 diabetes by candidate gene approach and genome-wide association studies (p<5x10-8). An understanding of the genetic architecture of the disease is important to provide contribution in clinical benefit for diagnosis and treatment by determining the risk profiles. In this review, the current knowledge about type 2 diabetes genetics and current status of the targeted clinical utility is argued by discussing the studies performed for the last 20 years to reveal the genetic background of the disease. [ABSTRACT FROM AUTHOR]

Osteoporosis is a metabolic bone disease that is characterized by low bone mineral density and increase in fragility of bone. Low peak bone mass has been considered as a risk factor for osteoporosis. Heredity, physical activity level and diet are of importance in the determination of variations in peak bone mass. Investigations have been continuing on numerous candidate genes playing a role in the genetic programming of peak bone mass. It has been suggested that heredity may account for about 50-85% of the variation in peak bone mass. However, negative consequences of genetic factors may be changed by the modification of some environmental factors such as diet and physical activity.

Primary congenital glaucoma (PCG) is a particular type of glaucoma that is vary between societies. Although inherited autosomal recessive, isolated social life and consanguineous marriages affect the frequency. The major gene of the diseases is CYP1B1 (cytochrome p450 1 b1). However It is shown that the gene mutations MYOC (myocilin), and LTBP2 (latent-transforming growth factor beta-binding protein 2) may cause disease. While mutation screening of the existing genes is continuing, new researches goes on new candidate loci. The congenital glaucoma genetics will be discussed in detail in this article in the light of current knowledge. [ABSTRACT FROM AUTHOR]

Globozoospermia is a teratozoospermia that has not the ability of sperm to fertilize an oocyte with its own state, observed in infertile male patients with a ratio of 0.1%. In this review we aimed to evaluate the globozoospermia under the the light of the current literature. [ABSTRACT FROM AUTHOR]

Inheritance of the schizophrenia and bipolar affective disorder (BPD) are considered as multigene in which many gene regions interact with the environmental factors. The differential diagnosis between schizophrenia and BPD has been a major factor in the clinical evaluation of psychosis for many years. The development of molecular genetic techniques at the beginning of the 2000's has provided high-budget and extensive genetic research. Knowledge about the human genome has risen through the genetic researches and many risk alleles associated with multigene inherited diseases have been found. The course of genetic research has started with the Human Genome Project and reached its peak with the Genome Wide Association Studies (GWAS) in 2000's. A remarkable finding of genetic studies in psychiatry was many common gene loci between schizophrenia and BPD which were considered as completely different disorders. The importance of the genetic studies will probably increase considering the cases in which differential diagnosis is challenging for psychiatrists. Current data about the genetics of schizophrenia and its impact on clinical practice are intended to be revised in this review. [ABSTRACT FROM AUTHOR]

Purpose: To define the gene locus related with concomitant strabismus in a large exotropia family. Material and Method: A three-generation family including 31 individuals among which 17 members had basic exotropia and 3 members had intermittent exotropia with known genome-wide analysis was investigated. The data of genome-wide analysis was evaluated under the assumed pattern of autosomal dominant inheritance with incomplete penetrance which was supported by pedigree analysis. Detailed haplotype analysis of four regions on 3 chromosomes (chromosome 7, 13 and 18) which had positive lod scores in previous studies was performed. Results: The first region on chromosome 13 was excluded regarding haplotype analysis, but the second region could not be excluded because of the high homozigocity in the family. The region which had 200.000 bases on chromosome 18 could not be excluded as well. The region which had 9 Mb on 7p14.1 was common for all family members. 7p14.1 locus is considered as the most likely region responsible for the inheritance of strabismus in regard with familial inheritance and crossing-over pattern. Discussion: The 7p14.1 locus identified in this study is a novel site and it is different from the regions on chromosome 7 which were reported in previous studies. To the best of our knowledge, this is the first study demonstrating the presence of critical recombinations across three generations and will shed light for further studies which will define the specific gene. [ABSTRACT FROM AUTHOR]

Copyright of Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi is the property of KARE Publishing 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.)

Despite significant medical and technological advances, retinopathy of prematurity is one of the major causes of visual loss in childhood in developed countries. Retinopathy of prematurity follows the different patterns of clinical courses at preterm infants with similar clinical features. This suggests genetic factors play role in the etiopathogenesis of the diseases such as environmental factors. Genetic researches on retinopathy of prematurity are usually carried out in animal models of oxygen induced retinopathy, and the use of these models provides a better understanding of the disease. In this article, we aimed to review the molecular factors, genetic mutations and polymorphisms that are thought to play a role in the development of retinopathy of prematurity. Understanding of the molecular mechanism in retinopathy of prematurity is extremely important in the development of new agents for the diagnosis and treatment of disease. [ABSTRACT FROM AUTHOR]

Breast cancer is a heterogeneous group of different histological subtypes, which are based on various molecular and genetic factors. All patients are given radiotherapy after breast-conserving surgery, which is actually considered unnecessary in two-thirds of these patients. Therefore, the fact that which patients should be administered radiotherapy has gained great importance. In this respect, known clinical and histopathological prognostic factors can not be sufficient to predict local control. Today, genetic and biotechnological advances caused significant progresses in molecular oncology, which is reflected in clinical oncology. In this article, molecular and genetic predictive factors that could be effective in the local control of breast cancer have been focused on, and a review of studies data conducted on the predictive value of the factors such as molecular classification, multigene tests, radiation resistance, DNA repair capacity, signaling pathways, cancer stem cells, and inhibition of CYP2D6 on local control was presented. [ABSTRACT FROM AUTHOR]

Objective: The distribution of indications for amniocentesis attempts, rates by age, intervention methods, cell culture results are analyzed. Material and Methods: Amniocentesis performed for karyotyping in high risk pregnancies in department of Obstetrics and Gynecology, Suleyman Demirel University between 2003 and 2011 are investigated retrospectively. Results: 1586 cases are evaluated. Age of 19-24 8 % (132/1586), age of 25-30 13 % (217/1586), age of 31-35 % 24 (389/1586), age of 36-40 % 36 (574/1586), age of 41-44 % 17 (274/1586) was determined. 15-22 weeks of amniocentesis (17.2 ± 1.4) were made between. 3.65 % of chromosomal abnormalities (58/1586) of the patients had. Trisomy 21 (Down Syndrome) 1.1 % (18/1586) was determined. The patients with Down syndrome, 32 and 43years of age. 0,6 % (11/1586) pregnancy loss after amniocentesis. Conclusion: Genetic counseling is provided for all cases. [ABSTRACT FROM AUTHOR]

Copyright of Ondokuz Mayis University Journal of Education is the property of Ondokuz Mayis University Faculty of Education 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.)

Nowadays, the results of clinical translational researches reflecting in the management of colorectal cancer patients are limited with usa of antibody therapy and detection of KRAS mutation determining the response to antibody treatment. However, in the near future, the new molecular markers are expected to enter into clinical usa with the results of th~ese studios. In this review, the genetic and epigenetic risk factors which play a role in the development of colorectal cancer, molecular diagnostic and prognostic markers, molecular-targeted treatments and promising molecules that are critical in determining the response to the therapy will be examined. [ABSTRACT FROM AUTHOR]

Copyright of Gazi University Journal of Gazi Educational Faculty (GUJGEF) is the property of Gazi University Journal of Gazi Educational Faculty (GUJGEF) 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.)

Introduction: Ichtyosiform dermatoses are a group of hereditary disorders characterized by excessive scaling on the skin. Lamellar ichtyosis is an autosomal recessive disorder. The clinical findings are seen at birth and become widespread and prominent in time; gray-brown scales are seen all over the body. Emollients and keratolytics containing salicylic acid or glycolic acid are used topically. Symptoms are improved significantly by acitretin usage. Case Report: Here we present a 5-year-old girl with lamellar ichtyosis. She was born in a collodion membrane. Besides the skin scales, ectropion and deformities of the nails and ears were observed. Significant clinical improvement was seen with acitretin (10 mg/day) therapy. Conclusion: Lamellar ichtyosis is a severe form of ichtyosiform dermatoses and topical agents may be insufficient. Systemic acitretin treatment improves the symptoms significantly but long term side effects limit its usage. [ABSTRACT FROM AUTHOR]

Copyright of Turk Psikiyatri Dergisi is the property of Turk Psikiyatri Dergisi 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.)

Pulmonary arterial hypertension (PAH) is histologically characterized by endothelial and smooth muscle cell proliferation, medial hypertrophy, and thrombosis in situ. However the pathogenesis of PAH remains unclear. Elevated pulmonary vascular resistance seems to result from an imbalance between locally produced vasodilators and vasoconstrictors, in addition to vascular wall remodeling. This article reviews the mechanisms of PAH and their relationships with each other. [ABSTRACT FROM AUTHOR]

The recent advances of molecular genetics in basic science, the number of genetic studies in the psychiatric field has been increasing in the last years. Clinical genetic studies revealed that not only schizophrenia and mood disorders but also some of the neurotic disorders such as anxiety disorders have a genetic component. Genetic knowledge obtained by genetic research must be applicable in clinical practice. Molecular genetic positional and candidate gene approaches are being used for the genetic dissection of schizophrenia and bipolar disorder. This will have a major impact on our understanding of disease pathophysiology and will provide important opportunities to investigate the interaction between genetic and environmental factors involved in pathogenesis. The genetic mutations and chromosomal regions related to schizophrenia and bipolar disorder have been evaluated in this review. [ABSTRACT FROM AUTHOR]

Colony management and stock improvement are very important issues of beekeeping. We can improve important economic genetic characters of honey bees by using breeding techniques. This subject is especially important for the countries that have their own honey bee subspecies for keeping their genetic resources and stock improvement. Programs for honey bee breeding in other countries such as United States of America and members of the European Union have targeted resistance to American and European foul brood, chalk brood, Nosema diseases, Varroa, tracheal mite, and increase in high honey production, decrease in swarm tendency in bee stocks and lines. Colony management, queen bee rearing and instrumental insemination techniques are the core tools for genetic improvement in beekeeping sector. Turkey has a special position in the world because of colony numbers and honey bee genetic diversity. Turkey has over 4 million colonies, making it the second country with the highest number of colonies in the world. Diverse and differentially adapted honey bee genetic sources in Turkey has been of interest for scientists and beekeepers from other countries. A famous example is the use of Apis mellifera bees from Sinop province by Brother Adam in production of the commercial line of bees known as Buckfast. Brother Adam, in his book of 1987 recognizes this bee as Anatolian bee (Apis mellifera anatolica) and tells to be better in many characteristics than other bees. However, Anatolian bee is only one of at least 5 subspecies present in Turkey, each with particular habits that are important for local adaptation. In this article I discuss importance of protecting diversity of native honey bee subspecies, colony management system and closed population breeding techniques. Lastly a model (See Figure 1) is proposed where an expert team provides the link between a conservation population for a local race (Yerli Irk I in Figure 1) and a closed breeding population of the same race (Yerli Irk II in Figure 1). The conservation population is maintained with the aim of preserving the genetic diversity and traits of the particular race or subspecies. The breeding population is maintained with the aim of producing breeder queen bees with improved commercial traits for the benefit of the beekeepers. [ABSTRACT FROM AUTHOR]

Parallel to the increasingly common use of second generation antipsychotics, some metabolic side effects started to draw attention, one of which is weight gain. Weight gain is an important problem both for general health and psychiatric morbidity. Some patients appear particularly vulnerable to weight gain with antipsychotic drugs. Genetic factors are thought to play a role in this vulnerability. This article aimed to review data obtained in studies about the association of weight gain and genetic mechanisms. In this review, literature was retrieved with the use of the computerized database PubMed up to February 2007. In addition, ▯gCukurova Psikiyatri Dizini (Cukurova University Psychiatry Database) website was also searched for Turkish journals. Keywords used in the search were ▯gantipsychotic, genetic, weight▯h and ▯gantipsychotic, polymorphism, weight▯h. Data were presented under the main headings of 1) genes involved in molecular pathways associated with obesity and body weight, 2) genes that code for receptors modulated by antipsychotic drugs and for proteins involved in synaptic transmission, 3) genes involved in the metabolism and bioavailability of antipsychotic medications. Genes investigated in reviewed studies for the association with weight gainwere as follows: eptin, melanin concentrating hormone, tumorZ necrosis factor alpha, brain derived neurotrophic factor, dopamine D1, D2, D3 and D4 receptors, serotonin 1A, 2A and 2C receptors, serotonin transporter protein, histamine H1 and H2 receptors, adrenergicZ ƒα1a, ƒα2a and s3 receptors, synaptosomal-associated protein-25, G-protein s3 subunit, and CYP1A2 and CYP2D6 enzymes. Genetic prediction of antipsychotic drug induced weight gain would be very valuable for clinicians in order to identify subjects who are at high risk. Interesting gene variants and chromosomal regions have emerged from studies conducted thus far. In spite of many limitations of these studies, some genes with stronger effects can be detected.To date, the most prominent candidate genes in studies are HT2C receptor gene, ƒα2a- drenergic receptor gene, leptin gene, G-protein s3 subunit gene and SNAP-25 gene. [ABSTRACT FROM AUTHOR]