A novel mutation in FK506 binding protein-like (FKBPL) causes male infertility

Aim To perform a mutation analysis of FK506 binding protein-like (FKBPL) in patients with azoospermia. Methods DNA samples were isolated from the peripheral blood of 30 azoospermic male patients with normal 46 XY karyotype and 10 healthy controls. Multiplex polymerase chain reaction assays were used to evaluate Y microdeletions, and the patients without deletions were further analyzed. Sanger sequencing was used for mutation analysis. Results A heterozygous adenine to guanine substitution was observed at position c.28 (c.28A>G) (one patient), guanine to adenine substitution at c.90 (c.90G>A) (three patients), and a novel insertion mutation of TCTCATAAGTCT at c. 229_240dup (two patients), all in FKBPL exon 2. Furthermore, four different benign variants were observed in the same gene. Conclusion Our study supports the literature on the etiologic effects of changes on autosomal chromosomes and highlights the importance of molecular analysis of all known and unknown genes that could be involved in male sexual development and functio

Presentation of a casewith an association of hypothyroidismand translocation type down syndrome

Dismorfik yüz görünümü ve tiroid hormonu değerlerinde düşüklük saptanan kırk iki günlük kız bebekte; translokasyon tipi Down Sendromu ve hipotiroidi birlikteliği saptandı. Olgu; nadir görülen bir translokasyon bulunması yanısıra, hipotiroidinin, sendromun diğer bulguları arasında gözden kaçırılmaması gerektiğine dikkat çekmek için olgu sunuldu.An association between hypothyroidismand translocation type Down syndrome (DS) has been detected in a 42- day-old female baby with facial dysmorphismand low levels of blood thyroid hormones. The case is presented because of the rarity of this type of translocation, and the importance of hypothyroidismamong common findings ofDSis emphasized

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

<p>Abstract</p> <p>Background</p> <p>Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance.</p> <p>Methods</p> <p>Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the <it>EVC/EVC2 </it>locus. The results did not exclude linkage, so samples were sequenced for mutations.</p> <p>Results</p> <p>We identified a c.1868T>C mutation in <it>EVC</it>, which predicts p.L623P, and was homozygous in affected individuals.</p> <p>Conclusion</p> <p>We conclude that this <it>EVC </it>mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. <it>EVC </it>mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome.</p

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

<p>Abstract</p> <p>Background</p> <p>Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance.</p> <p>Methods</p> <p>Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the <it>EVC/EVC2 </it>locus. The results did not exclude linkage, so samples were sequenced for mutations.</p> <p>Results</p> <p>We identified a c.1868T>C mutation in <it>EVC</it>, which predicts p.L623P, and was homozygous in affected individuals.</p> <p>Conclusion</p> <p>We conclude that this <it>EVC </it>mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. <it>EVC </it>mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome.</p

İşsizlik dinamikleri üzerine makaleler.

The main objective of this dissertation is to investigate the sources of unemployment fluctuations. Our main purpose is to assess the validity of debated conclusions of Shimer (2012) from a new perspective and re-analyze/re-harmonize his research question using alternative methods in five steps. First, we conduct a preliminary empirical exercise by replicating Baker (1992) with new data and find that Shimer’s conclusion that “the movements in the exit rate from unemployment are the main determinant of unemployment fluctuations” is not that obvious. Second, we apply Shimer’s method to demographic subgroups to see if his conclusions change at the group-level or not. We find that there is considerable heterogeneity across sub-groups in terms of the explanatory powers of the job finding probability versus the exit probability. Thirdly, we extended Shimer’s model by incorporating a new labor market state, “self employment,” to see if his conclusions change. We find that his results are mostly unaltered. But, we document important facts regarding the cyclical properties of the transition to and from self-employment. Fourth, we ask if his results are due to ignored measurement errors. We document that measurement errors have some role, but correcting for them does not alter Shimer’s conclusions substantially. Finally, we take a closer look at the mechanics of Shimer’s statistical model. We observe that focusing on rates instead of numbers may be underemphasizing fluctuations in entry and overemphasizing those in exit from unemployment.Ph.D. - Doctoral Progra

Domestic violence and female’s labor market conditions in Turkey: An analysis of cross sectional data

The main objective of this study is to find out and present the economic factors behind the problem of spousal violence against women. Two models, simple and extended, are estimated by linear regression model and Logit. Main finding is the negative relationship between the spousal violence and education level of the women. Education seems as the most effective way for the Turkish woman to get away from violence. Violence is lower on the women in more secure work conditions, indicating that the labor market conditions are also important. The labor market status of the women matters more than their husbands, indicating that empowerment of the women is one of the key issues to fight with domestic violence. Alcohol usage of husband seems another essential factor increasing the violence against females