Ailenin isteğine bağlı tıbbi düşüklerde , korionik villi karyotipinin maternal kan fetal karyotipi ile karşılaştırmalı araştırılması

57 SUMMARY In this study, chorion villi were extracted by curettage and biopsy from 70 women in their 6. - 12. weeks of pregnancy and decided to have abortion, and by transcervical or transabnominal aspiration from 5 women in theirH - IX weeks of pregnancy decided to undergo prenatal diagnosis in Gynecology and Obstetrics clinics of two hospitals. Additionally, 5 cc blood was drawn from each patient for determining fetal karyotype. Chorion villi material were examined by direct and culture methods. Preparations were Giemsa stained and banded by Trypsin using Giemsa. About 15 metaphases were evaluated from both preparations. In direct method, missing metaphases and unqualified chromosomes were observed. Only 5 - 7 % of the preparations gave satisfactory results. Culture methods was successfully performed in Chang medium with the material from 10 pregnant who had abortion and five pregnant with prenatal diagnosis. Indications for prenatal diagnosis were: 1 - late pregnancy (10 weeks of pregnancy, 40 years old ), 2 - aneuploidy in the previous child (10 weeks of pregnancy, children with Down syndrome in two pregnants ), 3 - anomalia observed with ultrasonography (12 weeks of pregnancy, extremitial anomalia or nucal oedema in two pregnants ) In the preparations with Chang medium 8 female ( 46, XX ) and 7 male ( 46, XY ) karyotype were observed. Prenatal diagnosis indicated two pregnant have female and three pregnant have male fetuses.58 In the lymphocyte culture to determine the fetal karyotype from maternal blood, preparations were Giemsa - stained and 100 metaphase were examined. Result only indicated the maternal karyotype. Y chromatin were also searched in the preparations. A correlation with chorion willi sampling could not be determined.55 ÖZET Çalışmamızda, SSK izmir Tepecik Doğumevi ve Kadın Hastalıkları Hastanesi ve E.Ü. Tıp Fakültesi Kadın Hastalıkları ve Doğum Anabilim Dalından ilgili uzmanlarca, ailenin isteğine bağlı olarak düşük yapacak olan 6. - 12. haftalar arasındaki 70 gebeden küretaj veya biyopsi ile ve ayrıca belirli endikasyonlar nedeniyle, 10. - 12. haftalardaki 5 gebeden de prenatal tam amacıyla transservikal aspirasyon ile korion villuslar alındı. Maternal kandan fetüs karyotipini belirlemek amacıyla gebelerden 5 cc periferik kan da alındı. Korion villus materyali, direkt ve kültür yöntemleri ile çalışıldı. Elde edilen preparatlara Giemsa boyama ve GTG bantlama yapıldı. Her ikisinden de ortalama 15 metafaz değerlendirildi. Direkt yöntemde, eksik metafazlar veya iyi kalitede olmayan kromozomlar elde edildi. Direkt yöntemde, % 5 - 7 oranında basan elde edildi. Kültür yönteminde, Chang mediumunun kullanıldığı 10 gebede ve prenatal tam uygulanan 5 gebede basan elde edildi. Gebelerin prenatal tam endikasyonlan şunlardır; ileri yaş endikasyonu ( 10 haftalık gebe 40 yaşmda ), bir önceki çocukta aneuploidi ( Down sendromunlu bir çocuk sahibi 10 haftalık iki gebe ), ultrasonda gözlenen fetal anomali ( Ekstremite anomalisi, nukal ödem gözlenen 12 haftalık iki gebe ) dir. Chang mediumu ile çalışılan olgulardan sekiz 46,XX ve yedi 46, XY karyotipi elde edildi. Prenatal tanı uygulanan gebelerin 2 kız ve 3 erkek sağlıklı fetüse sahip olduğu ortaya kondu.56 Maternal kandan fetüs karyotipini belirlemek amacıyla yapılan lenfosit kültüründeki incelemede, preparatlar Giemsa ile boyandı ve ortalama 100 metafaz sayıldı. Sayım sonucunda maternal kanda sadece annenin karyotipini gösteren metafazlar elde edilebildi. Ayrıca preparatlarda Y kromatini de araştırıldı. Fakat Y Kromatini gösteren hücrelere rastlanılmadı. Bundan dolayı korion villus örneklemesi ile olan korelasyonu ortaya konamad

The lncRNA expression profile signature of leukemia stem cells is altered upon PI3K/mTOR inhibition: an in vitro and in silico study

Genetic and/or epigenetic alterations in hematopoietic stem cells (HSCs) contribute to leukemia stem cell (LSC) formation. We aimed to identify alterations in the lncRNA expression profile signature of LSCs upon inhibition of PI3K/Akt/mTOR signaling, which provides selective advantages to LSCs. We also aimed to elucidate the potential interaction networks and functions of differentially expressed lncRNAs (DELs). We suppressed PI3K/Akt/mTOR signaling in LSC and HSC cell-lines by specific PI3K/mTOR dual-inhibitor (VS-5584) and confirmed the inhibition by antibody-array. We defined DELs by qRT-PCR. Increased SRA, ZEB2-AS1, antiPeg11, DLX6-AS, SNHG4, and decreased H19, PCGEM1, CAR-Intergenic-10, L1PA16, IGF2AS, and SNHG5 levels (|log2fold-change|>5) were strictly associated with PI3K/Akt/mTOR pathway inhibition in LSC. We performed in silico analyses for DELs. ZEB2-AS1 was found to be specifically expressed in normal bone marrow and predominantly lower in leukemic cell-lines. Three sub-clusters were identified for DELs and they were associated with abnormality of multiple cell lineages in the bone marrow. DELs were most highly enriched for glucuronidation Reactome pathway and ascorbate and aldarate metabolism and inositol phosphate metabolism KEGG pathways. Transcription factors, MBD4, NANOG, PAX6, RELA, CEBPB, and CEBPA were predicted to be associated with the DEL profile. SRA was predicted to interact with CREB1, RARA, and PPARA. The possible DELs' targets were predicted to form six ontological groups, be highly enriched for phosphoprotein, and be involved in PPAR signaling pathway and ChREBP regulation by carbohydrates and cAMP. These results will help to elucidate the roles of lncRNAs in the mechanisms that provide selective advantages to leukemia stem cells

Effect of CCT137690 on long non-coding RNA expression profiles in MCF-7 and MDA-MB-231 cell lines

Long non-coding RNAs (lncRNAs) are involved in a range of biological processes, such as cellular differentiation, migration, apoptosis, invasion, proliferation, and transcriptional regulation. The aberrant expression of lncRNAs plays a significant role in several cancer types. Aurora kinases are increasingly expressed in various malignancies; accordingly, the inhibition of these enzymes may represent a novel approach for the treatment of various cancers. CCT137690, an Aurora kinase inhibitor, displays an anti-proliferative activity in human cancer cell lines. The aim of the present study was to investigate the anti-proliferative and cytotoxic effects of CCT137690 on estrogen receptor (ER)-positive human breast cancer cell line (MCF-7) and ER-negative human breast cancer cell line (MDA-MB-231). In addition, this study was targeted toward determining the changes induced in lncRNA expression levels following the initiation of Aurora kinase inhibitor treatment. The cytotoxic effects of CCT137690 were determined by means of the xCELLigence system. Furthermore, the anti-proliferative role of CCT137690 in breast cancer was investigated by checking the changes in lncRNA expression profiles using quantitative reverse-transcription polymerase chain reaction (qRT-PCR). The half-maximal inhibitory concentrations (IC50) of CCT137690 were determined as 4.5 μM (MCF-7) and 7.27 μM (MDA-MB-231). Several oncogenic lncRNAs (e.g., PRINS, HOXA1AS, and NCRMS) were downregulated in both ER-negative and ER-positive cell lines. On the other hand, tumor suppressor lncRNAs (e.g., DGCR5 and IGF2AS) were upregulated in the ER-positive cell line. After CCT137690 treatment, HOXA11AS and PCAT-14 lncRNAs were downregulated in the ER-positive cell lines. In addition, MER11C, SCA8, BC200, HOTAIR, PCAT-1, UCA1, SOX2OT, and HULC lncRNAs were downregulated in the ER-negative cell lines. The results of the present study indicated that Aurora kinase inhibitor CCT137690 could be a potential anti-cancer agent for breast cancer treatment

Türkiye'deki İlk Maymun Sıtması: Bir Plasmodium knowlesi Olgusu

Plasmodium knowlesi is now added to the known four Plasmodium species (P.vivax, P.falciparum, P.malariae, P.ovale) as a cause of malaria in humans because of the recent increasing rate of cases reported from countries of southeastern Asia. P.knowlesi which infects macaque monkeys (Macaca fascicularis and M.nemestrina) is transmitted to humans especially by Anopheles leucosphyrus and An.hackeri mosquitos. First human cases of P.knowlesi malaria have been detected in Malaysia which have reached high numbers in recent years and also have been reported from countries of Southeast Asia such as Thailand, Philippines, Myanmar, Singapore and Vietnam. However the number of cases reported from western countries are rare and limited only within voyagers. This report is the fi rst presentation of an imported case of P.knowlesi malaria in Turkey and aims to draw attention to the point that it could also be detected in future. A 33-year-old male patient from Myanmar who has migrated to Turkey as a refugee, was admitted to a health center with the complaints of fever with a periodicity of 24 hours, headache, fatigue, cough, sore throat, anorexia, myalgia and arthralgia. He was prediagnosed as upper respiratory tract infection, however because of his periodical fever and background in Myanmar, thick and thin blood fi lms were prepared and sent to our laboratory for further examinations. Microscopic examination of the thin blood fi lms revealed erythrocytic stages compatible with P.knowlesi (three large early trophozoites in an erythrocyte, three late trophozoites with compact view, and three late band-form trophozoites). Upon this, both real-time polymerase chain reaction (Rt-PCR) targeting the small subunit ribosomal RNA (SSU-rRNA) genes of Plasmodium genus and DNA sequence analysis targeting P.knowlesi rRNA gene were performed. As a result, the suspected identifi cation of P.knowlesi by microscopy was confi rmed by Rt-PCR and DNA sequencing. the patient was treated with chloroquine and primaquine combination and in the follow-up on the seventh day after the treatment, his parasitemia and symptoms had ceased. Although there were some previous reports concerning about imported patients infected with different Plasmodium species in our country, no cases of P.knowlesi have been reported. This fi rst case presented here emphasizes the occurence of P.knowlesi malaria in Turkey hereinafter due to the increasing number of refugeesİnsanda sıtma etkeni olarak bilinen dört Plasmodium türüne (P.vivax, P.falciparum, P.malariae, P.ovale), son zamanlarda özellikle Güneydoğu Asya ülkelerinde bildirimi artmaya başlayan P.knowlesi de eklenmiştir. P.knowlesi makak maymunlarının (Macaca fascicularis ve M.nemestrina) sıtma etkeni olup, insana özellikle Anopheles leucosphyrus ve An.hackeri sivrisinekleri ile bulaşmaktadır. İlk kez Malezya'da ortaya çıkan P.knowlesi sıtması olgularının sayıları giderek yükselmiş; Tayland, Filipinler, Burma (Myanmar), Singapur ve Vietnam gibi birçok Güneydoğu Asya ülkesinden de olgular rapor edilmiş; batı ülkelerinde ise sadece az sayıda gezginde tanımlanmıştır. Bu raporda, ülkemizde ilk kez tanımlanan yurtdışı kaynaklı bir P.knowlesi sıtması olgusunun sunulması ve bundan sonra da görülebileceği konusuna dikkat çekilmesi amaçlanmıştır. Burma'dan ülkemize mülteci olarak gelmiş 33 yaşında erkek hasta, 24 saate bir yükselen ateş, kas ve eklem ağrıları, halsizlik, baş ağrısı, iştahsızlık, boğaz ağrısı ve öksürük şikayetleriyle bir sağlık kuruluşuna başvurmuştur. Olguya üst solunum yolu enfeksiyonu ön tanısı konulmuş; ancak periyodik ateş ve yurtdışı öyküsü olması nedeniyle hazırlanan ince yayma ve kalın damla kan preparatları ileri inceleme için laboratuvarımıza gönderilmiştir. İnce yayma kan preparatlarının mikroskobik incelemesinde, P.knowlesi'ye uyan eritrositer formlar (bir eritrosit içinde üç adet büyük genç trofozoit formu, kompakt görünümlü üç adet olgun trofozoit ve bant formunda üç adet olgun trofozoit) görülmüştür. Bunun üzerine Plasmodium cinsine ait küçük altünite ribozomal RNA (SSU-rRNA) genini hedefl eyen gerçek zamanlı polimeraz zincir reaksiyonu (Rt-PCR) ve ayrıca P.knowlesi'nin rRNA bölgesine DNA dizi analizi uygulanmıştır. Böylece mikroskobik olarak şüphelenilen P.knowlesi tanısı, Rt-PCR ve dizi analizi sonucunda doğrulanmıştır. Olguya klorokin ve primakin kombine tedavisi uygulanmış ve yedi gün sonra yapılan kontrolde parazitemisinin kaybolduğu ve şikayetlerinin geçtiği görülmüştür. Ülkemizde daha önce, farklı Plasmodium türlerinin tespit edildiği yurtdışı kaynaklı birçok olgunun bildirilmesine rağmen, P.knowlesi sıtmasına hiç rastlanmamıştır. Bu raporda sunulan ilk olgu, özellikle artan göçler nedeniyle bundan sonra P.knowlesi sıtmasının da görülebileceğini vurgulamaktadı

Bir olgu nedeniyle frontonasal displazi ve frontofasionasal displazi

Here we present a 6 year-old female case whose physical findings resemble both frontonasal dysplasia and frontofascionasal dysplasia. It can be thought that defects on genome that cause those syndromes might be very near to each other.Burada hem frontonasal displazi'ye hem de frontofascionasal displazi'ye uyan bulguları olan 6yaşında bir kız olgu sunulmaktadır. Olgunun her iki sendroma uyan bulguları değerlendirildiğinde genom üzerinde bu sendromların oluşumuna vol açan defektlerin birbirine çok yakın olabileceği düşünülmektedir

Popliteal pterygium sendromu: Olgu sunumu

Popliteal pterygium syndrome is characterised by pterygium in the popliteal fossa, face and genital abnormalities. Here we describe an 14 year-old male patient born to a nonconsanguineous parents, with synophrys, ankyloblepharone filiforme, operated cleft lip and palate, congenital sinus on the lower lip, skin syndactyly in the hands, skin lesions around the nails, hypospadias, minimal pterygium in the left popliteal fossa.Popliteal pterygium sendromu (PPS) popliteal fossa'da pterygia, yüzde ve genital bölgede anomalilerin olduğu bir sendromdur. Burada, akrabalık olmayan bir evlilikten doğan, sinofriz, göz kapaklarında ankiloblefaron filiforme, öpere yarık dudak ve damak, alt dudakta konjenital sinüs, elde deri sindaktilisi, elde tırnak etrafında deri lezyonları, öpere hipospadias, solda minimal popliteal pterygiumu olan 14 yaş 3 aylık bir erkek olgu sunulmuştur