HOMO SEMIOTICUS IN SCIENCE CLASSROOM: HOW FUTURE’S SCIENCE TEACHERS FACILITATE MEANING-MAKING OF SCIENCE CONCEPTS AS CITIZENS OF DIGITAL AGE?

Communication of scientific knowledge is ultimately multimodal. In science education, many researchers demonstrated that design of science texts has a great role in meaning-making of communicated scientific knowledge. In order to present message, representations are essential elements that need to be designed consciously by science educators. This study investigates meaning-making practices of pre-service science teachers during learning activities. In a social semiotic approach, multimodality principles were executed to reveal how participants think about meaning-making practices, how they design their learn materials, and how they orchestrate during teaching. 41 preservice science teachers participated to study. 33 of them responded multimodal literacy scale, all of them prepared a PowerPointTM presentation as ten groups to teach a certain general chemistry topic and classroom observations were done. It was seen that, in theory almost all pre-service science teachers have representational competence but the results stemming from real practices showed inverse. Results of this study demonstrated that there is a big gap between pedagogical concerns and meaning-making facilities in the practices of pre-service science teachers during a science instruction. It was implied that, designing learning materials that contain high meaning-making potentials and mastering to communicate it requires a theoretical and pedagogical knowledge.  Article visualizations

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

<p>Abstract</p> <p>Background</p> <p>Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance.</p> <p>Methods</p> <p>Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the <it>EVC/EVC2 </it>locus. The results did not exclude linkage, so samples were sequenced for mutations.</p> <p>Results</p> <p>We identified a c.1868T>C mutation in <it>EVC</it>, which predicts p.L623P, and was homozygous in affected individuals.</p> <p>Conclusion</p> <p>We conclude that this <it>EVC </it>mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. <it>EVC </it>mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome.</p

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

<p>Abstract</p> <p>Background</p> <p>Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance.</p> <p>Methods</p> <p>Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the <it>EVC/EVC2 </it>locus. The results did not exclude linkage, so samples were sequenced for mutations.</p> <p>Results</p> <p>We identified a c.1868T>C mutation in <it>EVC</it>, which predicts p.L623P, and was homozygous in affected individuals.</p> <p>Conclusion</p> <p>We conclude that this <it>EVC </it>mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. <it>EVC </it>mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome.</p

Prenatal diagnosis in a family of TNFRSF11A (RANK) gene mutation detection: A case report

Otozomal resesif osteopetrozis (ORO) genellikle infant veya çocukluk çağında ölüme yol açan ciddi bir hastalıktır. TNFSF11 geni tarafından kodlanan RANKL ve TNFRSF11A geni tarafından kodlanan RANK proteinleri osteoklast olgunlaşması için önemli olup bu genlerdeki mutasyonların ORO gelişiminde rol oynadığı gösterilmiştir. Bu yazıda aralarında akrabalık bulunan eşlerin 2 çocuğunda da TNFRSF11A geninde c.508 A→G homozigot mutasyonu (pArg170Gly) saptanmış. Bir sonraki gebelik sırasında CVS materyali üzerinde yapılan mutasyon analizinde, fetusta heterozigot mutasyon saptandı. Gebelik terme kadar devam etti ve sağlıklı bir erkek çocuk doğdu. Prenatal mutasyon analizi, mutasyonu bilinen hastalıklarda ebeveynin anksiyetesini rahatlatmak ve aileye genetik danışma vermek için önemlidir.Autosomal recessive osteoporosis (ARO) is a severe disease causing death usually at infancy or childhood. RANKL coded by TNFSF11 gene and RANK coded by TNFRSF11A gene are important proteins for osteoclast maturation and it is indicated that mutation on these genes plays an important role for ARO development. It is reported in this article that c.508 A→G homozygote mutation (pArg170Gly) is observed in TNFRSF11A gene of 2 children of consanguineous couple. Mutation analysis performed on CVS material during the next pregnancy revealed heterozygous mutation in the fetus. The pregnancy was continued to term and a healthy boy was delivered. Prenatal mutation analysis is important for diseases with known mutations to relieve parental anxiety and provide genetic counselling for the family

Very low level mosaicism of trisomy 13 in prenatal diagnosis: Who should decide?

Phenotypic outcome and clinical effect of mosaic of trisomy 13 is not clear yet. Eventhough, there is a suggested relationship between the percentage of mosaicism and clinical appreance, literature reports a wide range of possibilities from normal intelligence to as severe as full. This makes genetic counselling after prenatal diagnosis of mosaic 13 particularly difficult. A 27 year old pregnant with normal serum screening result for Down's syndrome is admitted. Amniocentesis was performed due to mother anxiety Cytogenetic analysis and FISH was performed. Four out of 30 metaphases had trisomy 13 from first culture and FISH analysis performed from amniotic fluid cell culture and cord blood. Two out of 250 from amniocentesis and 3 out of 500 from cord blood metaphases had trisomy 13. Conclusion: We here report a case of mosaic trisomy 13 in which high risk of prenatal screening, prenatal ultrasound abnormalities were not observed and post-mortem histo-pathological examination was normal.Genetic counselling was not straightforward and family decided to end the pregnancy.Phenotypic outcome and clinical effect of mosaic of trisomy 13 is not clear yet. Eventhough, there is a suggested relationship between the percentage of mosaicism and clinical appreance, literature reports a wide range of possibilities from normal intelligence to as severe as full. This makes genetic counselling after prenatal diagnosis of mosaic 13 particularly difficult. A 27 year old pregnant with normal serum screening result for Down's syndrome is admitted. Amniocentesis was performed due to mother anxiety Cytogenetic analysis and FISH was performed. Four out of 30 metaphases had trisomy 13 from first culture and FISH analysis performed from amniotic fluid cell culture and cord blood. Two out of 250 from amniocentesis and 3 out of 500 from cord blood metaphases had trisomy 13. Conclusion: We here report a case of mosaic trisomy 13 in which high risk of prenatal screening, prenatal ultrasound abnormalities were not observed and post-mortem histo-pathological examination was normal.Genetic counselling was not straightforward and family decided to end the pregnancy

A case of Larsen sydrome with joint and fascial anomaly

Larsen sendromu doğan bebeklerin 100.000'de birinde görülen nadir bir genetik hastalıktır. Prenatal tanıdan ultrasonografinin önemi vardır. Yenidoğan döneminde tipik yassı yüz şekli, eklemlerde doğuştan dislokasyonlar, spinal deformite ile karakterizedir. Otozomal dominant formu ve daha ciddi klinik formu olan otozomal resesif tipi tanımlanmıştır. Bu çalışmada Larsen sendromlu bir vaka literatürdeki vakalar araştırılarak tartışılmıştırLarsen syndrome is a rare genetic disorder, with an incidence of 1/ 100000. Ultrasonography is important in prenatal diagnosis. Joint hypermobility, spinal deformity, congenital joint dislocations, distinctive facial features are characteristic findings in newborn. An autosomal dominant form and a more severe autosomal resesive form have been described. Larsen syndrome is discusessed with a review of literatur

Taxonomic review of the Chondrostoma (Teleostei, Leuciscidae) species from inland waters of Turkey: an integrative approach

The genus Chondrostoma (Leuciscidae: Leuciscinae), composed of small to medium-sized fish with a scraper feeding characteristic, is distributed in the West and Middle East, Caucasus, Europe and Northern Mediterranean drainages. This genus spreads across Anatolia and Thrace, with the exception of Göksu and Eşen rivers in Turkey’s Mediterranean basin. It is also difficult to understand the systematics of Chondrostoma, which is complicated morphologically. Therefore, in this study, an identification key was made by evaluating external morphology, osteology (some jaw bones and 5th ceratobrachial) and molecular features together. A total of 13 valid species have been so far recorded from Turkish inland waters, among which are C. beysehirense, C. ceyhanensis, C. colchicum, C. cyri, C. holmwoodii, C. kinzelbachi, C. meandrense, C. nasus, C. regium, C. smyrnae, C. toros, C. turnai and C. vardarense. Our molecular data showed that C. angorense (Kızılırmak and Sakarya rivers) is a synonym of C. colchicum (Çoruh and Yeşilırmak rivers). In addition, C. angorense was morphologically similar to C. colchicum. Therefore, we explored the systematic position of C. vardarense (from Meriç River) and C. nasus (from Simav River) in this study