Dermal efficacy of bendiocarb on mammals, used for mosquito control in Çukurova [Çukurova'da sivrisinek mücadelesinde kullanilan bendiocarb'in memelilere (siçanlara) dermal etkisi]

Inhibitory effect of bendiocarb on serum and whole blood cholinesterase activities of rats was investigated in laboratory conditions, bendiocarb a carbamate insecticide, was applied dermally to the rats. The concentrations of insecticide (80% WP) were choosen in accordance with the spray dosages used for mosquito control and the LD50 dermal dosages for rats. In vitro inhibition of serum cholinesterase activity was determined by using technical bendiocarb in the same dermal dosages. Both in vitro and in vivo dermal studies showed that there is a negative correlation between bendiocarb (80% WP) concentrations and enzyme activities. Application of one dose of bendiocarb did not also have a significant inhibition on enzyme activity but a cumulative effect on the following days. On the contrary, in vitro studies showed that the inhibitory effect of technical bendiocarb in the same concentrations was found to be in very high levels

The clinical effects of isochromosome Xq in Klinefelter syndrome: Report of a case and review of literature

PubMedID: 19852429We describe a male with a variant Klinefelter syndrome (KS), and trisomy Xq resulting from an isochromosome Xq [47,Xi(Xq)Y]. He had many characteristics of classical KS: bilateral atrophic testes and microcalcifications, normal masculinization, azoospermia, hypergonadotropic hypogonadism, elevated FSH and LH, normal intelligence and normal androgenization, but his stature was not increased. Ultrasonographic evaluation also revealed parenchymal alterations secondary to previous epididymo-orchitis. After initial evaluation the patient underwent incisional biopsy of testes which showed tubular hyalinisation, Leydig cell hyperplasia and Certoli cell syndrome. The i(Xq) was found in all cells analyzed. These findings indicate that extra copies of the long arm of X have phenotypic expression, even though activated only in early development. In conclusion, review of literature on 20 adult patients supports the view that the presence of an isochromosome Xq in KS has a favorable prognosis in terms of normal mental development and normal stature

Inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with down syndrome carrying the same translocation

PubMedID: 18990986Reciprocal translocation carriers have reduced fertility, increased risk of spontaneous abortion or unbalanced karyotype in their offspring. Here, we report the inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with Down syndrome carrying the same translocation. Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Cukurova university hospital in Turkey. We assessed a family in which the translocation between chromosomes 12 and 16 segregates; one of the eight progenies with the karyotype 47,XY,+21,t(12;16)(q24;q24) was heterozygote for the translocation and presented with Down syndrome. His mother is phenotypically normal, one brother and one sister were also carrying the same translocation. Apparently, this rearrangement occurred due to the unbalanced chromosome segregation of the mother [t(12;16)(q24;q24)mat]. This case will enable us to explain the behavior of segregation patterns and the mechanism for each type of translocation from carrier to carrier and their effects on reproduction and numerical aberrations. The t(12;16) is also associated with fetal wastage and may play a role in the etiology of the family's miscarriages. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling

Chromosomal abnormalities in endometrial and ovarian carcinomas

Development and progression of human malignancies involve multiple genetic changes including chromosomal instabilities such as translocations, deletions, and inversions. Chromosomal abnormalities were observed in 23 cases with ovarian and endometrial cancer by cytogenetic studies using a GTG (G bands by trypsin using Giemsa) banding technique. Specific chromosome bands were frequently involved, and were most frequent on chromosomes 1, 2, 3, 5, 12 and 17. Clonal alterations were observed at the cancer breakpoints, such as 1q21, 1q32, 3p21, 7q22, 11q23 in ovarian and 1p36, 1q32, 2p12, 3p21, 7q22, 9q34, 11p15, 11q23, 12q13, 14q11, 14q32, 16p13, 21q22 in endometrial cases. These findings provide evidence that multiple genetic lesions are associated with the pathogenesis of endometrial and ovarian cancer.This study was supported by the Department of Research Projects at the University of Çukurova, Adana, Turkey

The effect of a de novo pericentric inversion (10)(p11.1;q22.1) on aggressive behavior and hyperactivity

PubMedID: 19400544[No abstract available

Polymorphisms in the tumor necrosis factor-alpha gene in Turkish women with pre-eclampsia and eclampsia

PubMedID: 17593951The genetic background predisposing pregnant women to pre-eclampsia/ eclampsia (PE/E) is still unknown. The aim of the current study was to investigate whether there is an association between the TNF-alpha-308 and 850 polymorphisms and PE or eclampsia. In this study, 40 cases of eclampsia, 113 cases of PE and 80 normotensive control cases were genotyped for the TNF-alpha-G-308A and C-850 polymorphisms. At position 308, the replacement of Guanine with Adenosine was denoted as TNF2. We found a significant difference between the TNF2 allele frequencies of the eclamptic, pre-eclamptic and normotensive controls. TNF2 (AA) polymorphism frequency was significantly higher among the eclamptics and pre-eclamptics (control: 5%, PE: 13.3%, E: 12.9%). A significantly different genotype distribution of C-850T polymorphism was observed between the PE/E and control groups, with the frequency of the variant TT genotype being significantly reduced in the preeclamptics (PE: 17%; E: 17.5%) when compared with the control group (24.3%). We have demonstrated an association between TNF-? polymorphisms and pre-eclampsia susceptibility. However, it is not known whether C-850T polymorphism has a functional effect on the TNF-? gene. In addition, it was not possible to determine whether this polymorphism promotes the progression from PE to eclampsia because of no statistically significant difference between eclampsia and the controls. Copyright© 2007 by Okayama University Medical School

Investigation of p53 tumor suppressor gene mutations in patients with a lung mass using sequence analysis [Akciger kitlesi olan hastalarda p53 tümör baskilayici gen mutasyonlarinin sekans analizi ile arastirilmasi]

Objective: The p53 tumour suppressor gene plays an important role in the regulation of cell proliferation. It is located on the short arm of the 17th chromosome. It has 11 exons and encodes for a tumor suppressor protein called p53 which is 53kD in weight and 393 amino acids in length. This protein, a transcription factor, is an important regulator of cell cycle. Up to date, a number of mutations (75 % of which are found between codon 26 and 332) have been detected on p53 gene. Recent researches showed that lung neoplasm resulting from the mutations of p53 gene varied between 33% (adenocarcinoma) and 70% (small cell lung cancer), and it is reported that the hot spots were mainly found at the codons 175, 248, and 273. Material and Methods: In this study, the exons, exon-intron junctions, and some intron regions, which are located between exon 4-9 of p53 gene, of 24 patients who had a surgical operation due to a lung mass were examined by automatic DNA sequencing in University of Leipzig. Results: 53 missense and 7 frameshift mutations were detected between 4th and 9th exons (Codons 36-318) of 18 samples among the 24 samples. Fifty five of these mutations were heterozygous, and five of them were homozygous. Similarly, 12 missense mutations detected as a result of the serial analyses of the region between introns 4-9, and seven of them were heterozygo us and 5 were homozygous. Conclusion: Some research regarding p53 gene reported that codon 175, 248, and 273 were hot spots and mutations were frequent in these codons. However we have not seen any mutations in any of these codons in our study. Nucleotide changes at the positions 13432 (5' beginning) and 13999 (3' ending) of 6th intron, which are very important regions, may result in the formation of an abnormal protein. We suppose that other nucleotide changes are not very important due to their heterozygous nature and location. © 2010 by Türkiye Klinikleri

The sister-chromatid exchange and acetylcholine esterase enzyme levels among patients with insecticide intoxication in the Çukurova Region, Turkey

PubMedID: 16680189This study included 45 patients with intentional insecticide intoxication and 21 with accidental intoxication who were treated at the First-Aid and Emergency Department of Balcali Hospital at the Faculty of Medicine in the Çukurova University, Adana, Turkey, while the control group consisted of 25 people selected from university personnel known to be healthy. Patients with a history of X-ray exposure in the last 6 months or of any virus disease as well as continuous drug users and smokers were excluded, leaving a total of 49 patients. Acetylcholine esterase (Pseudocholinesterase) enzyme (AchE), sister-chromatid exchanges (SCE), the mitotic index (MI), and the replication index (RI) were evaluated. Blood samples were cultured for SCE evaluation and sera separated for AchE levels. Insecticide exposure was generally intentional for suicide in adolescents and at older ages, but accidental for children. AchE levels were found to be significantly lower in organophosphorus (OP) and carbamated (CB) insecticide poisoning groups in comparison with the control group (p0.05). SCE was found to be significantly higher in OP and CB groups (p0.05). This study showed an increase in SCE in response to orally ingested insecticides. These findings indicate that insecticide exposure results in cell abnormalities, with resulting impediments to the division and replication of cells, as suggested by MI decreases and RI increases, while the speed of the division cycles of stimulated cells increases. Copyright© 2006 by Okayama University Medical School

Prenatal diagnosis of translocation 13;13 Patau syndrome: Clinical features of two cases

Patau syndrome is associated with extra chromosome 13 material, either free as in the 47,+13 or in a Robertsonian translocation or another rearrangement. We report on two fetuses with trisomy 13 who were diagnosed prenatally via cord blood and amniocentesis, respectively. They showed de novo Robertsonian translocation between chromosome 13 and 13, and had normal parents. One was detected cytogeneticaly at 24 weeks of gestation with a karyotype of 46,XX, rob(13;13) and lived only 1 month after birth. Holoprosencephaly, proboscis, microphthalmia and heart septal defects were present. The other fetus was examined at 14 weeks gestation because of cystic hygroma, hydrothorax and hyperechogenic kidneys and had the karyotpe 46,XY, rob(13;13). After abortion the fetus was found to have a cleft lip and palate, postaxial polydactyly of the feet, micrognathia, omphalocele, low-set ears with abnormal helix and to be small for the gestational age. Due to the difference in chromosomal makeup seen in non disjunction, there may be differences in expression of several of the features often seen with trisomy 13, either classical type (as in the 47,+13) or de novo Robertsonian translocation type (as in the 46)

The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene

PubMedID: 16765994Phenylalanine hydroxylase (PAH) gene mutations were investigated in 23 (46 alleles) unrelated phenylketonuria (PKU) patients in Cukurova region. First, all exons of PAH gene were screened by denaturing high performance liquid chromatography (DHPLC), and then, the suspicious samples were analyzed by direct sequencing technique. Consequently, the following results were obtained: IVS10-11g › a splicing mutation in 27/46 (58.7%), R261Q mutation in 7/46 (15.2%) and E178G, R243X, R243Q, P281L, Y386C, R408W mutations, each found in the frequency of 2/46 (4.3%). In many countries, Arginine mutations have the highest frequency among PAH gene mutations in PKU patients. Although, CpG dinucleotids are effective in mutations resulting in arginine changes, this finding originated from the studies on the causes of mutations rather than the studies on the importance of arginine amino acid. In our analyses, we have detected that a majority of mutations causing a change in arginine and other amino acids concentrated in exon 7 comprising the catalytic domain (residues 143-410) of PAH gene. Several studies has emphasized the role of arginine amino acid; with the following outcomes; arginine repetition is significant for RNA binding proteins, and for histon proteins in eukaryotic gene expression, and also arginine repetition occurring in the structure of signal recognition particle's (SRPs) as a consequence of post-translational processes is very important in terms of gene expression. Therefore, the role of arginine amino acid in PAH gene is rather remarkable in that it shows the role of amino acids in the protein/RNA interaction that has started in the evolutionary process and is still preserved and maintained in the motif formation of active domain structure due to its strong binding properties. Thus, such properties imply that both arginine amino acid and exon 7 is of great significance with regards to the structure and function of the PheOH enzyme. © 2006 Elsevier B.V. All rights reserved