Yükseköğretimde Karma bir Dersin Tasarımında İyi Uygulama İlkeleri

This study examines students’ perceptions of a blended course which uses the Seven Principles for Good Practice in Undergraduate Education. A blended teacher education course was designed with teaching and learning activities to introduce the Seven Principles for Good Practice. The participants included 47 pre-service teachers in an undergraduate teacher education program in Turkey. Data were collected using both qualitative and quantitative methods, including a questionnaire, student interviews, and discussion forum transcripts. The results indicate that the students’ perceptions of the blended course were mostly positive; the students felt that the blended environment was very useful. The participants perceived six of the seven principles to be helpful, including student-faculty contact, cooperation, time on task, diversity of ways to learn, feedback, and active learning. However, the students also thought that the seventh “expectations” principle needed to be improved.Bu çalışmada, üniversite eğitiminde İyi Uygulama için Yedi İlke’den faydalanılarak tasarlanan “karma bir öğrenme ortamı”a yönelik öğrencilerin algılarına bakılmıştır. Lisans düzeyinde bir ders İyi Uygulama İlkeleri yardımıyla yeniden tasarlanmıştır. Çalışmanın örneklemini Türkiye’deki bir öğretmen eğitimi programında okuyan 47 lisans öğrencisi oluşturmaktadır. Nitel ve nicel veriler üç farklı anket, öğrencilerle yapılan görüşmeler ve tartışma listesi çıktıları yoluyla toplanmıştır. Nitel ve nicel sonuçlar, öğrencilerin iyi uygulama ilkelerinden faydalanılarak tasarlanan karma derse karşı algılarının büyük ölçüde olumlu olduğunu göstermiştir. Sonuçlar öğrencilerin yedi temel ilkeden altısını oluşturan “öğrenci-öğretim elemanları arası iletişim”, “işbirliği”, “zamanlama”, “çeşitlilik ve öğrenme yolları”, “anlık geribildirim” ve “aktif öğrenme”nin karma ortamda desteklendiğini düşündüklerini göstermektedir. Yalnızca “beklenti” unsuruna yönelik öğrenci algılarının diğerlerine göre daha az olumlu olduğu ve bu unsurun geliştirilmesi gerektiği görülmektedir

Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome.

Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects monozygotic twins concordantly. Thyroid hypoplasia (TH) is a common cause of congenital hypothyroidism (CH) and often accompanies dysmorphic syndromes. A pair of female twins were admitted to our neonatology unit 16 hours after delivery. They were born at 35 weeks of gestation. Both twins had an unusual dysmorphic facial appearance with microcephaly, as well as broad short thumbs and large toes. Based on the presence of characteristic dysmorphic features, the twins were diagnosed as RSTS. Thyroid function tests in the first twin revealed the following results: free thyroxine (T4) 8.4 pg/mL, thyrotropin (TSH) 4.62 mIU/L, thyroglobulin (TG) 213.24 ng/mL and a normal level of urinary iodine excretion (UIE). Thyroid function test results in the second twin in the second week were: free T4 5.9 pg/mL, TSH 9.02 mIU/L, TG 204.87 ng/mL, and normal UIE levels. Thyroid volumes were 0.36 mL and 0.31 mL in the first and second twin, respectively. TH was confirmed by technetium 99 m pertechnetate thyroid scans in both infants. Thyroid function tests normalized with L-thyroxine replacement therapy (10 μg/kg/day) around the end of the 3rd week of life. The infants were discharged planning their follow-up by both endocrinology and cardiology units. The rarity of cases of twins with RSTS (concordant) co-existing with CH led us to present this report

Detection of Novel NF1 Variants with Next-Generation DNA Sequencing Technology and Genotype-Phenotype Characteristics of Neurofibromatosis

MakaleWOS:000925992500001Objective: Neurofibromatosis type 1 (NF1, #162200) is a common neurological disorder with de novo or inherited germline mutations of the Neurofibromin (NF1, *613113). The purpose of this study is to increase the limited knowledge of NF1 in a small population-based dataset. Materials and Methods: This study enrolled patients with clinically suspected NF1 referred to the Kayseri Training and Research Hospital, Medical Genetics Department, between 2015 and 2017. The local ethics committee approved this study. Next-generation sequencing was performed for the genetic analysis. The genetic, demographic, and clinical features of the participants were characterized. Results: A total of 79 cases of NF1 were included. Of these cases, 40 were male, and 39 were female. The mean age was 11.9 years, and most were younger than 18 years. The most common complaint was cafe au lait macules. The 61 (77.3%) patients had pathogenic variants, and 16 (26.2%) were novel. Mostly affected mutation sites were exonic regions (n=54, 88.5%). The most common mutated exon was exon 38 (n=7, 11.5%), and most of the detected mutations were nonsense mutations (31%). Conclusion: It is one of Turkiye's largest NF1 study groups, where all exons of the NF1 gene were analyzed. This study contributes novel variants to the literature. There was no mutational hotspot region, and no significant relationship between genotype and phenotype was observed. Further studies and large sample sizes are required to better understand the relationship between NF and genetic changes

THE ROLE OF CHROMOSOME ANALYSIS IN MALEAND FEMALE INFERTILITY

Objective: Infertility is defined as absence of a healthy baby or pregnancy despite a one-year regular unprotected sexual intercourse. While primary infertility is called the absence of pregnancy at all, secondary infertility is called inability of couples who have had at least one healthy child to become pregnant. Chromosome anomalies are an important cause of both male and female infertility. In this study, we aimed to discuss the results of chromosome analysis of couples with primary infertility.Material and Methods: A total of 535 people, 262 women and 273 spouses with primary infertility, were included in the study. Chromosome analysis was performed using standard cytogenetic GTG banding technique using peripheral blood lymphocytes.Results: Normal chromosome establishment was detected in 513 people, 46,XX in 254 people, 46,XY in 259 people (95.8%). Eight patients had a normal chromosome variant (1.4%). In addition, translocation was detected in 5 patients (0.8%); in 4 patients, balanced reciprocal translocation and in 1 patient, Robertsonian translocation. Klinefelter syndrome was detected in 3 patients (1% of male infertility). In addition, we detected Turner syndrome variants, mos 45,X[11]/46,XX,i (X)(q10)[29] and mos 45,X[10]/46,X,i(X)(q10)[10] (0.7% of female infertility) in two cases. If normal chromosome variants are excluded, the frequency of the remaining changes in the patient population is 2.6%.Conclusion: Structural chromosomal anomalies such as balanced reciprocal and Robertsonian translocations cause both female and male infertility. 47,XXY should be kept in mind for male infertility and 45,X/46,X,i(X)(q10) Turner chromosome variants should be kept in mind in female infertility. In summary, chromosome analysis is one of the important tests that should be done to explain the etiology of both male and female infertility

A Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G

Objective: Hyperferritinemia cataract syndrome (HFCS) is an autosomal dominantly inherited disease characterized by increased serum ferritin levels and bilateral cataract formation in the early period of life. Heterozygote mutations in the 5’ untranslated region of the L-ferritin gene (FTL) have been reported to cause this disease. In this study, our purpose was to research the FTL gene mutations that cause HFCS in Central Anatolia and the clinical effects of these mutations. Materials and Methods: Seventeen patients from 6 families with high ferritin levels in performed serum measurements, those who were found to have cataracts in eye examinations, and families with vertical inheritance, since the disease is autosomal dominant, were included in the study. Exons, exon-intron boundaries, and 5’ and 3’ untranslated regions of FTL (NM_000146) were sequenced using the Sanger sequencing method. Results: The female/male ratio of the patients was 7/10. All of the patients were found to have c.-160A>G heterozygous mutation in the FTL gene. Conclusion: In the Turkish population, the prevalence of HFCS is about 1/100,000 and the commonly observed mutation is c.-160A>G mutation

Asymmetric Crying Face in a Newborn with Isotretinoin Embryopathy

We report a newborn with asymmetric crying face and other anomalies whose mother had taken isotretinoin during the first month of pregnancy. We hypothesize that asymmetric crying face is a finding of retinoic acid embryopathy and results from the intrauterine effects of retinoic acid on the development of the depressor anguli oris muscle or the mandibular branch of the facial nerve

Common Familial Mediterranean Fever gene mutations in a Turkish cohort

Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder with the responsible gene of MEFV which primarily affects Jewish, Armenian, Turkish and Arab populations. The FMF gene (MEFV) has recently been cloned to chromosome 16p, which encodes pyrin. In the present study, we enrolled 2,067 unrelated patients with the suspicion of FMF in Middle Anatolia between the years 2006-2009 and identified the 12 MEFV mutations. DNA was amplified by PCR and subjected to reverse hybridization for the detection of MEFV gene mutations. Among the 2,067 patients, 866 (41.9%) were males and 1,201 (58.1%) were females. The mutations were homozygous in 176 (16.85%) patients, compound heterozygous in 314 (30.1%) patients, heterozygous in 546 (52.25%) patients and the other forms of mutations were found in 8 patients (0.76%). No mutation was detected in 1,023 (49.5%) patients. The most frequent mutations were M694V, M680I (G/C), E148Q and V726A. We could not find any significant differences between the two common mutations according to the gender. The high incidence of MEFV gene mutations in the Turkish population indicated that newborn screening may be discussed in the future. Because of the ethnic origin of Anatolia, larger serial analyses are necessary to investigate the rate and coexistence of these mutations