Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate

Orofacial clefts (OFC; MIM 119530) are among the most common major birth defects. Here, we carried out mutation screening of the PVR and PVRL2 genes, which are both located at an OFC linkage region at 19q13 (OFC3) and are closely related to PVRL1, which has been associated with both syndromic and non-syndromic cleft lip and palate (nsCLP). We screened a total of 73 nsCLP patients and 105 non-cleft controls from the USA for variants in PVR and PVRL2, including all exons and encompassing all isoforms. We identified four variants in PVR and five in PVRL2. One non-synonymous PVR variant, A67T, was more frequent among nsCLP patients than among normal controls, but this difference did not achieve statistical significance

Conventional liquid-based techniques versus Cytyc Thinprep(® )processing of urinary samples: a qualitative approach

BACKGROUND: The aim of our study was to objectively compare Cytyc Thinprep(® )and other methods of obtaining thin layer cytologic preparations (cytocentrifugation, direct smearing and Millipore(® )filtration) in urine cytopathology. METHODS: Thinprep slides were compared to direct smears in 79 cases. Cytocentrifugation carried out with the Thermo Shandon Cytospin(® )4 was compared to Thinprep in 106 cases, and comparison with Millipore filtration followed by blotting was obtained in 22 cases. Quality was assessed by scoring cellularity, fixation, red blood cells, leukocytes and nuclear abnormalities. RESULTS: The data show that 1) smearing allows good overall results to be obtained, 2) Cytocentrifugation with reusable TPX(® )chambers should be avoided, 3) Cytocentrifugation using disposable chambers (Cytofunnels(® )or Megafunnel(® )chambers) gives excellent results equalling or surpassing Thinprep and 4) Millipore filtration should be avoided, owing to its poor global quality. Despite differences in quality, the techniques studied have no impact on the diagnostic accuracy as evaluated by the rate of abnormalities. CONCLUSION: We conclude that conventional methods such as cytocentrifugation remain the most appropriate ones for current treatment of urinary samples. Cytyc Thinprep processing, owing to its cost, could be used essentially for cytology-based molecular studies

Hiperkolestrolemi ile oluşturulan aterosklerozda protein kinaz c, cjun-n- terminal kinaz ve aktivatör protein-1’in rolünün araştırılması

1.ÖZETHiperkolesterolemi İle Oluşturulan Aterosklerozda Protein Kinaz C, C-Jun-N-Terminal Kinaz Ve Aktivatör Protein-1’in Rolünün AraştırılmasıAteroskleroz ve bunun komplikasyonları olan enfarktüs ve strok en başta gelen ölüm nedenleri arasında yer almaktadır. Aterosklerozda hiperkolesterolemi en başta gelen risk faktörlerinden biridir. Aterosklerotik lezyonlarda biriken okside olmuş düşük yoğunluklu lipoproteinler, düz kas hücreleri veya makrofajlarda bulunan çöpçü reseptörlerden CD36 reseptörü, tarafından hücre içine alınıp köpük hücre oluşumuna neden olmaktadır. OxLDL, MMP üretiminin artışı yoluyla monositlerin inflamatuar özelliklerini artırabilir. Özellikle düz kas hücreleri makrofaj ve endotel hücrelerinden salınan MMP-9 membranın temel bileşeni olan tip IV kollajeni yıkıma uğrattığı ve artmış MMP-9 seviyelerinin kardiovasküler hastalıklara sebep olduğu kanıtlanmıştır. Yapılan çalışmalarda, OxLDL ile oluşan MAP kinazlardan JNK1 ve JNK2’ın spesifik aktivasyonlarının CD36 kaynaklı olduğu ileri sürülmüştür. Ayrıca, reaktif oksijen türlerinden kaynaklanan MMP artışında , transkripsiyon faktörü olan AP-1’in aktivasyonunun rol aynadığı bilinmektedir. AP-1 proteini c-jun ve c-fos proteinlerinin heterodimeridir ve c-jun proteininin fosforilasyonunda başlıca JNK1 ve JNK2 enzimleri rol oynamaktadır. Bu çalışmada, tavşanlarda %2 kolesterol içeren diyet ile indüklenen ateroskleroz modelinde, phospo c-jun, c-jun, JNK1, PKC ve MMP-9 ekspresyonunun aort dokusunda karşılaştırılmalı olarak incelenmesi ve vitamin E’nin bu değişiklikler üzerine olan etkisinin araştırılması planlanmıştır. Kolesterol grubundaki tavşanlarda c-Jun’un fosfo c-Jun’a dönüşerek AP-1 aktivasyonu üzerinden MMP-9 ekspresyonunu arttırdığı, vitamin E’nin bu basamakta inhibe edici etkisi olduğu gözlendi. Anahtar Kelimeler: Protein Kinaz C, C-Jun-N-Terminal Kinaz, Aktivatör Protein-1, Hiperkolesterolemi, Ateroskleroz2.SUMMARYRole Of Protein Kinase C, C-Jun-N-Terminal Kinase And Activator Protein-1 In Hypercholesterolemia Induced Atherosclerosis Atherosclerosis and its complications are major causes of the death all over the world. One of the major risks for atherosclerosis is hypercholesterolemia. During atherosclerosis, lipoproteins such as LDL become trapped at the site of lesion and are converted to oxLDL, which contains both oxidized proteins and lipids. Smooth muscle cells become activated by oxLDL, start to proliferate, and migrate into the intima of the arterial wall. OxLDL provokes a cascade of cellular responses at the atherosclerotic lesion, ultimately leading to formation of atherosclerotic plaques. In this process, scavenger receptors could play a critical role because of their ability to bind oxLDL and their function in transporting lipids and cholesterol into and out of the cells. OxLDL can stimulate inflamatuar speciality of monocytes by increasing the MMP production. MMP-9 degrades type IV collagen, the major constituent of basement membranes, and is released by macrophages, smooth muscle cells, and endothelial cells. With that elevated MMP-9 concentration in plasma has been shown in cardiovascular diseases. Studies show that, CD36-mediated activiation of MAP kinases JNK1 and JNK2 is regulated by OxLDL. It is known that activation of transcription factor AP-1 plays a key role on MMP-1 mRNA expression which may be generated by reactive oxygen species. Ap-1 protein is a heterodimer of Jun and Fos proteins and JNK1 (c-jun N-terminal kinaz-1) and JNK2 enzymes play a significant role in the phosphorylation of c-Jun protein.In this study, the investigation of phospo c-jun, c-jun, JNK1, PKC ve MMP-9 expressions in aorta tissues compared to each other and the effects of vitamin E on these changes in the atherosclerotic rabbit model induced by 2% cholesterol containing diet was planned. C-Jun transforms to phospo c-Jun and activates AP-1 by this way the expression of MMP-9 increased in cholesterol group rabbits. At this step we observed that vit E has an inhibitory effect.Keywords: Protein Kinase C, C-Jun-N-Terminal Kinase, Activator Protein-1, Hypercholesterolemia, Atherosclerosi

Note: Karyotype of Taphozous nudiventris cretzschmar, 1830 (Mammalia: Chiroptera) from Turkey

[No abstract available]We are grateful to Ferhat Toprak, Hasan Karakaya, Dr. Ays¸egül Karatas¸, and Mehmet Ak (Nig^de University) for assistance during field research. I would like to thank two anonymous referees for their comments on the manuscript. This research was supported by the Nig^de University Research Fund, project Nr. 01.FEB.026

Karyology of three vespertilionid bats (Chiroptera: Vespertilionidae) from Turkey

The karyotypes of three vespertilionid bat species from Turkey were examined. The karyotypes of Eptesicus serotinus and Eptesicus bottae were found to be identical in diploid number (2n) and fundamental number of chromosomal arms (NF) with 2n = 50, NF = 52 and NFa = 48. The karyotypes were found as 2n = 42, NF = 54, and NFa = 50 for Nyctalus noctula. The karyological characteristics of E. bottae anatolicus and N. noctula were studied for the first time from Turkey

Contribution to karyology, distribution and taxonomic status of the long-winged bat, miniopterus schreibersii (Chiroptera: Vespertilionidae), in Turkey

The distribution of the Long-winged Bat, Miniopterus schreibersii, in Turkey is described with the help of literature records and our own new records. The range extends all over the country, with populations in Thrace, the Marmara region and the western Black Sea region belonging to the nominate form, and those in the eastern Black Sea region, in Central, eastern, southern and south-eastern Anatolia to M. s. pallidus. The transition between the two subspecies occurs in a wide area extending from the Aegean region to the central Black Sea region, where intermediate forms exist. The karyotype was analysed from the western Black Sea region, and was found to be 2n= 46, FN= 52, FNa= 48, which is in conformity with the karyotype described from other parts of the distribution area of this species. © 2004 Taylor & Francis Group, LLC