B12 Vitamin and Folat Prevelance of Children and Adolescents in Diyarbakır

The most common cause of megaloblastic anemia in childhood are vitamin B12 and folat deficiency. Folat and vitamin B12 play a role in DNA synthessis in gastrointestinal, urogenital,nerves and hemotopoetic cells. The diagnosis of megaloblastic anemia is easy and the treatment cost is low.In this study, the prevalence of vitamin B12 and folat deficiencies in 889 students were determined. Vitamin B12 and folat levels in blood samples were measured via RİAThe average age were betwen 12 and 22 years. Of this students 294(%33,1) were female and 595 (%66,9) were male. The incidence of vitamin B12 deficiency was found to be 2.2%, while folat deficiency was 21.8%. The mean vitamin B12 level was 331,51±144,05 pg/mL (325,60±138,91 in pg/mL male, 343,48±153,48 pg/mL in female), the mean folat level was 5,42±2,12 ng/ml (5,23±2,11 ng/ml in male, 5,80±2,10 ng/ml in female).The prevelance of folat deficiency in our region was higher than other countries, possibly due to low socioeconomical status, improper or inadequate food intake and low educational status

Pleiotropic effects in Eya3 knockout mice

<p>Abstract</p> <p>Background</p> <p>In <it>Drosophila</it>, mutations in the gene <it>eyes absent </it>(<it>eya</it>) lead to severe defects in eye development. The functions of its mammalian orthologs <it>Eya1-4 </it>are only partially understood and no mouse model exists for <it>Eya3</it>. Therefore, we characterized the phenotype of a new <it>Eya3 </it>knockout mouse mutant.</p> <p>Results</p> <p>Expression analysis of <it>Eya3 </it>by <it>in-situ </it>hybridizations and β-Gal-staining of <it>Eya3 </it>mutant mice revealed abundant expression of the gene throughout development, e.g. in brain, eyes, heart, somites and limbs suggesting pleiotropic effects of the mutated gene. A similar complex expression pattern was observed also in zebrafish embryos.</p> <p>The phenotype of young adult <it>Eya3 </it>mouse mutants was systematically analyzed within the German Mouse Clinic. There was no obvious defect in the eyes, ears and kidneys of <it>Eya3 </it>mutant mice. Homozygous mutants displayed decreased bone mineral content and shorter body length. In the lung, the tidal volume at rest was decreased, and electrocardiography showed increased JT- and PQ intervals as well as decreased QRS amplitude. Behavioral analysis of the mutants demonstrated a mild increase in exploratory behavior, but decreased locomotor activity and reduced muscle strength. Analysis of differential gene expression revealed 110 regulated genes in heart and brain. Using real-time PCR, we confirmed <it>Nup155 </it>being down regulated in both organs.</p> <p>Conclusion</p> <p>The loss of <it>Eya3 </it>in the mouse has no apparent effect on eye development. The wide-spread expression of <it>Eya3 </it>in mouse and zebrafish embryos is in contrast to the restricted expression pattern in <it>Xenopus </it>embryos. The loss of <it>Eya3 </it>in mice leads to a broad spectrum of minor physiological changes. Among them, the mutant mice move less than the wild-type mice and, together with the effects on respiratory, muscle and heart function, the mutation might lead to more severe effects when the mice become older. Therefore, future investigations of <it>Eya3 </it>function should focus on aging mice.</p

Protective effectiveness of anise against testicular ischemia and reperfusion injury: An experimental study in rats

Testicular torsion is a frequently encountered clinical condition that requires urgent treatment. The aim of this study is to investigate the efficacy of Anise (Pimpinella anisum L.) in treating the pathological condition due to ischemia and reperfusion injury by using biochemical, histopathological and immunohistochemical methods. A total of 6 groups were formed with 8 male Wistar Albino rats in each group. Group 1 (n=8): control group, Group 2 (n=8): Anise aqueous solution was given orally 5 ml/kg by gavage for 30 days. Group 3 (n=8): Ischemia and Reperfusion (I/R) group, bilateral testicles were rotated 270° and reperfused after 30 minutes of ischemia. Group 4 (n=8): I/R+ Anise group, Group 5 (n=8): Anise+ I/R group and Group 6 (n=8): Anise+ I/R+ Anise group. The results of the Anise group and the Control group were similar. However, the damage in the I/R group was considerably more severe than in any of the other study groups. While it was observed that spermatogenic cells started to regenerate in the I/R+Anise group, edema and congestion were observed in the Anise+I/R group. In the Anise+I/R+Anise group, all histological findings and biochemical parameters were similar to those of the control group. It was observed that anise had protective effects in ischemia and reperfusion injury in rat testicles

Experimental investigation and numerical description of the damage evolution in a duplex stainless steel subjected to VHCF-loading

The present study documents how the irreversible fraction of cyclic plastic strain, induced by loading amplitudes close to the durability limit, causes fatigue damage such as (i) slip band development, (ii) fatigue crack initiation and (iii) short fatigue crack propagation. The damage evolution of the austenitic-ferritic duplex stainless steel X2CrNiMoN22-5-3 (318 LN) was investigated up to one billion load cycles by means of high resolution electron microscopy (HR-SEM, TEM), focused ion beam (FIB) cutting, confocal laser scanning microscopy (CLSM), in-situ far field microscopy and high-energy (87.1 keV) X-ray diffraction (XRD) experiments. The experimentally identified damage mechanisms were implemented into three-dimensional finite element simulations, which consider crystal plasticity. These simulations enable fatigue life predictions of real microstructures obtained for instance by means of, e.g. automated electron back scatter diffraction (EBSD) analysis. The simulations allow for determining whether microcracks (i) initiate in a microstructure, (ii) arrest in the midst of the first grain, (iii) are permanently, (iv) temporary or (v) not at all blocked by grain or phase boundaries. Moreover, this concept is capable to contribute to the concept of tailored microstructures for improved cyclic-loading behaviour

Molecular analysis of cataract families in India: New mutations in the <em>CRYBB2</em> and <em>GJA3</em> genes and rare polymorphisms.

PURPOSE: The aim of the study was to resolve the genetic etiology in families having inherited cataracts. METHODS: Families afflicted with congenital/childhood cataracts were registered in Chennai and Orissa (India). Blood samples were collected from the probands and available family members. Selected functional candidate genes were amplified by polymerase chain reaction (PCR) and characterized by direct sequencing. Putative mutations were confirmed in healthy controls. RESULTS: We observed interesting new polymorphisms of ethnic specificity, some of frequent nature, such as a 3-bp deletion in intron 3 of CRYBB2 (encoding &beta;B2-crystallin) and IVS1+9 c&gt;t variation in HSF4 (encoding heat-shock factor 4). Some rare single nucleotide polymorphisms (SNPs) co-segregate with the respective phenotype such as IVS3+120c&gt;a of CRYBB2, while M44V of CRYGD (encoding &gamma;D-crystallin), although found in association with blue dot opacity was seen in a few healthy controls too. We identified two new mutations co-segregating along with the respective cataract phenotype within the families that were not seen in healthy controls from India or Germany. These include two missense mutations; one in GJA3 (encoding gap junction protein &alpha;3, which is also referred to as connexin 46); the mutation affects codon 19 (T19M), and the corresponding phenotype is a posterior-polar cataract. The other missense mutation affects CRYBB2 (W59C; total cataract). Additionally, a cDNA variation (G54A) identified in a zonular cataract affects a highly conserved splice site of CRYBB2. This mutation, however, showed reduced penetrance in the family, which might be explained by different molecular consequences in the affected family members: nonsense-mediated decay of the mutated mRNA might have no clinical phenotype in heterozygotes, whereas the translation of the mutated mRNA is predicted to lead to a small hybrid protein (consisting of 16 amino acids of the &beta;B2-crystallin and 18 new amino-acids), which might have a dominant-negative function in the lens. CONCLUSIONS: This report identifies in families with childhood cataract some new alleles, which may be considered as causative for cataracts. Furthermore, we report some geographically restricted rare polymorphic sites, whose significance might be considered in some context as modifiers or alleles in sensitizing ocular lens toward cataractogenesis

A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: A novel model for dry-eye disease?

PURPOSE. The purpose of the present study was to characterize a new slit-eye phenotype in the mouse. METHODS. Genomewide linkage analysis was performed, and a candidate gene was sequenced. Eyes of the mutants were described morphologically, histologically, and by in situ hybridization. To allow morphologic and functional studies of the retina, mutants were outcrossed to C57BL/6. RESULTS. Within an ongoing ethyl-nitrosourea mutagenesis screen with C3HeB/FeJ mice, the authors identified a new mutant (referred to as Aey17) showing a slit-eye phenotype in heterozygotes; homozygous mutants are not viable because of major developmental defects. This mutation was mapped to the distal end of mouse chromosome 13, suggesting Fgf10 (encoding the fibroblast growth factor 10) as a candidate gene. An A -&gt; G transition in the penultimate base of the first intron of Fgf10 leading to aberrant splicing with an additional 49 bp in exon 2 and to a frameshift with a premature stop codon after 54 new amino acids was identified. Histologic analysis of the major ocular tissues (cornea, lens, retina) did not reveal major alterations compared with the wild type, but the size of the Harderian gland was remarkably reduced in heterozygotes. Although Fgf10 was expressed in the developing retina, neither electroretinography nor the virtual drum indicated any abnormalities in heterozygous mutants; overall eye size was identical in wild types and heterozygotes. CONCLUSIONS. The mutation in the Fgf10 gene leads to a dominant slit-eye phenotype caused by atrophy of the Harderian gland