Factors Affecting the Participation of Children in Summer Sport Courses

( Okkes A. Gencay ),( Selcuk Gencay ) 한국스포츠정책과학원(구 한국스포츠개발원) 2007 International Journal of Applied Sports Sciences Vol.19 No.1

The aims of this study were to determine (a) why do parents enroll their children to these courses?; (b) what are the main features that the parents take into consideration in such courses?; (c) is there any relationship between the features to which parents take into consideration in the summer sport courses and their reasons for enrolling their children in the courses? The data of the study were collected through questionnaires from the parents of 225 children between the ages of 7 to 13 who participated in the summer courses. The primary purpose of parents enrolling their children in the summer sport courses were primary socialization and, secondary physical competence development. The main course features which parents take into account were the quality of the trainer and the safety and hygiene of the sporting medium.

Chloride and lactate as prognostic indicators of calf diarrhea from eighty-nine cases

Gencay Ekinci 대한수의학회 2024 Journal of Veterinary Science Vol.25 No.3

Importance: Deaths due to neonatal calf diarrhea are still one of the most critical problems of cattle breeding worldwide. Determining the parameters that can predict diarrhea-related deaths in calves is especially important in terms of prognosis and treatment strategies for the disease. Objective: The primary purpose of this study was to determine mortality rates and durations, survival status, and predictive prognosis parameters based on vital signs, hematology, and blood gas analyses in neonatal diarrheic calves. Methods: The hospital automation system retrospectively obtained data from 89 neonatal diarrheic calves. Results: It was found that 42.7% (38/89) of the calves brought with the complaint of diarrhea died during hospitalization or after discharge. Short-term and long-term fatalities were a median of 9.25 hours and a median of 51.50 hours, respectively. When the data obtained from this study is evaluated, body temperature (°C), pH, base excess (mmol/L), and sodium bicarbonate (mmol/L) parameters were found to be lower, and hemoglobin (g/dL), hematocrit (%), lactate (mmol/L), chloride (mmol/L), sodium (mmol/L) and anion gap (mmol/L) parameters were found to be higher in dead calves compared to survivors. Accordingly, hypothermia, metabolic acidosis, and dehydration findings were seen as clinical conditions that should be considered. Logistic regression analysis showed that lactate (odds ratio, 1.429) and CI− (odds ratio, 1.232) concentration were significant risk factors associated with death in calves with diarrhea. Conclusions and Relevance: According to the findings obtained from this study, the determination of lactate and Cl− levels can be used as an adjunctive supplementary test in distinguishing calves with diarrhea with a good prognosis.

<i>ENAM</i> Mutations with Incomplete Penetrance

Seymen, F.,Lee, K.-E.,Koruyucu, M.,Gencay, K.,Bayram, M.,Tuna, E.B.,Lee, Z.H.,Kim, J.-W. Journal of Dental Research, Inc 2014 Journal of dental research Vol.93 No.10

<P>Amelogenesis imperfecta (AI) is a genetic disease affecting tooth enamel formation. AI can be an isolated entity or a phenotype of syndromes. To date, more than 10 genes have been associated with various forms of AI. We have identified 2 unrelated Turkish families with hypoplastic AI and performed mutational analysis. Whole-exome sequencing identified 2 novel heterozygous nonsense mutations in the <I>ENAM</I> gene (c.454G>T p.Glu152* in family 1, c.358C>T p.Gln120* in family 2) in the probands. Affected individuals were heterozygous for the mutation in each family. Segregation analysis within each family revealed individuals with incomplete penetrance or extremely mild enamel phenotype, in spite of having the same mutation with the other affected individuals. We believe that these findings will broaden our understanding of the clinical phenotype of AI caused by <I>ENAM</I> mutations.</P>

Novel <i>ITGB6</i> mutation in autosomal recessive amelogenesis imperfecta

Seymen, F,Lee, K-E,Koruyucu, M,Gencay, K,Bayram, M,Tuna, EB,Lee, ZH,Kim, J-W Stockton Press 2015 Oral diseases Vol.21 No.4

<P><B>Objective</B></P><P>Hereditary defects in tooth enamel formation, amelogenesis imperfecta (AI), can be non-syndromic or syndromic phenotype. Integrins are signaling proteins that mediate cell–cell and cell–extracellular matrix communication, and their involvement in tooth development is well known. The purposes of this study were to identify genetic cause of an AI family and molecular pathogenesis underlying defective enamel formation.</P><P><B>Materials and Methods</B></P><P>We recruited a Turkish family with isolated AI and performed mutational analyses to clarify the underlying molecular genetic etiology.</P><P><B>Results</B></P><P>Autozygosity mapping and exome sequencing identified a novel homozygous <I>ITGB6</I> transversion mutation in exon 4 (c.517G>C, p.Gly173Arg). The glycine at this position in the middle of the <I>β</I>I-domain is conserved among a wide range of vertebrate orthologs and human paralogs. Clinically, the enamel was generally thin and pitted with pigmentation. Thicker enamel was noted at the cervical area of the molars.</P><P><B>Conclusions</B></P><P>In this study, we identified a novel homozygous <I>ITGB6</I> mutation causing isolated AI, and this advances the understanding of normal and pathologic enamel development.</P>

Exonal Deletion of <i>SLC24A4</i> Causes Hypomaturation Amelogenesis Imperfecta

Seymen, F.,Lee, K.-E.,Tran Le, C.G.,Yildirim, M.,Gencay, K.,Lee, Z.H.,Kim, J.-W. SAGE Publications 2014 Journal of dental research Vol.93 No.4

<P>Amelogenesis imperfecta is a heterogeneous group of genetic conditions affecting enamel formation. Recently, mutations in solute carrier family 24 member 4 (<I>SLC24A4</I>) have been identified to cause autosomal recessive hypomaturation amelogenesis imperfecta. We recruited a consanguineous family with hypomaturation amelogenesis imperfecta with generalized brown discoloration. Sequencing of the candidate genes identified a 10-kb deletion, including exons 15, 16, and most of the last exon of the <I>SLC24A4</I> gene. Interestingly, this deletion was caused by homologous recombination between two 354-bp-long homologous sequences located in intron 14 and the 3′ UTR. This is the first report of exonal deletion in <I>SLC24A4</I> providing confirmatory evidence that the function of SLC24A4 in calcium transport has a crucial role in the maturation stage of amelogenesis.</P>

MMP20 Hemopexin Domain Mutation in Amelogenesis Imperfecta

Lee, S.-K.,Seymen, F.,Kang, H.-Y.,Lee, K.-E.,Gencay, K.,Tuna, B.,Kim, J.-W. AMERICAN AND INTERNATIONAL ASSOCIATIONS FOR DENTAL 2010 Journal of dental research Vol.89 No.1

Novel <i>MMP20</i> and <i>KLK4</i> Mutations in Amelogenesis Imperfecta

Seymen, F.,Park, J.-C.,Lee, K.-E.,Lee, H.-K.,Lee, D.-S.,Koruyucu, M.,Gencay, K.,Bayram, M.,Tuna, E.B.,Lee, Z.H.,Kim, Y.-J.,Kim, J.-W. SAGE Publications 2015 Journal of dental research Vol.94 No.8

<P>In order to achieve highly mineralized tooth enamel, enamel proteinases serve the important function of removing the remaining organic matrix in the mineralization and maturation of the enamel matrix. Mutations in the kallikrein 4 (<I>KLK4</I>), enamelysin (<I>MMP20</I>), and <I>WDR72</I> genes have been identified as causing hypomaturation enamel defects in an autosomal-recessive hereditary pattern. In this report, 2 consanguineous families with a hypomaturation-type enamel defect were recruited, and mutational analysis was performed to determine the molecular genetic etiology of the disease. Whole exome sequencing and autozygosity mapping identified novel homozygous mutations in the <I>KLK4</I> (c.620_621delCT, p.Ser207Trpfs*38) and <I>MMP20</I> (c.1054G>A, p.Glu352Lys) genes. Further analysis on the effect of the mutations on the translation, secretion, and function of KLK4 and MMP20 revealed that mutant KLK4 was degraded intracellularly and became inactive while mutant MMP20 was expressed at a normal level but secreted only minimally with proteolytic function.</P>

<i>LAMB3</i> Mutations Causing Autosomal-dominant Amelogenesis Imperfecta

Kim, J.W.,Seymen, F.,Lee, K.E.,Ko, J.,Yildirim, M.,Tuna, E.B.,Gencay, K.,Shin, T.J.,Kyun, H.K.,Simmer, J.P.,Hu, J.C.-C. SAGE Publications 2013 Journal of dental research Vol.92 No.10

<P>Amelogenesis imperfecta (AI) can be either isolated or part of a larger syndrome. Junctional epidermolysis bullosa (JEB) is a collection of autosomal-recessive disorders featuring AI associated with skin fragility and other symptoms. JEB is a recessive syndrome usually caused by mutations in both alleles of <I>COL17A1, LAMA3, LAMB3</I>, or <I>LAMC2</I>. In rare cases, heterozygous carriers in JEB kindreds display enamel malformations in the absence of skin fragility (isolated AI). We recruited two kindreds with autosomal-dominant amelogenesis imperfecta (ADAI) characterized by generalized severe enamel hypoplasia with deep linear grooves and pits. Whole-exome sequencing of both probands identified novel heterozygous mutations in the last exon of <I>LAMB3</I> that likely truncated the protein. The mutations perfectly segregated with the enamel defects in both families. In Family 1, an 8-bp deletion (c.3446_3453del GACTGGAG) shifted the reading frame (p.Gly 1149Glufs*8). In Family 2, a single nucleotide substitution (c.C3431A) generated an in-frame translation termination codon (p.Ser1144*). We conclude that enamel formation is particularly sensitive to defects in hemidesmosome/basement-membrane complexes and that syndromic and non-syndromic forms of AI can be etiologically related.</P>

Novel WDR72 Mutation and Cytoplasmic Localization

Lee, S.-K.,Seymen, F.,Lee, K.-E.,Kang, H.-Y.,Yildirim, M.,Tuna, E.B.,Gencay, K.,Hwang, Y.-H.,Nam, K.H.,De La Garza, R.J. AMERICAN AND INTERNATIONAL ASSOCIATIONS FOR DENTAL 2010 Journal of dental research Vol.89 No.12