Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect

Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9-year-old boy with dysmorphic appearance and hypertrophic cardiomyopathy. Tandem MS spectrometry analysis was compatible with carnitine uptake defect (CUD). His sister had died due to sudden infant death at 19 months. His second 4-year-old sister’s echocardiographic examination revealed hypertrophic cardiomyopathy, also suffering from easy fatigability. Her tandem MS spectrometry analyses resulted in CUD. We sequenced all the exons of the SLC22A5 gene encoding the high affinity carnitine transporter OCTN2 in the DNA. And one new mutation (c.1427T>G → p.Leu476Arg) was found in the boy and his sister in homozygous form, leading to the synthesis of an altered protein which causes CUD. The parent’s molecular diagnosis supported the carrier status. In order to explore the genetic background of the patient’s dysmorphic appearance, an array-CGH analysis was performed that revealed nine copy number variations only. Here we report a novel SLC22A5 mutation with the novel hallmark of its association with dysmorphologic feature

Assessment of relationship between pain, psychological status, quality of life and body mass index

Objective: The purpose of the study is to evaluate health-related quality of life (HRQL), pain, the number of painful areas, and depression level; both to compare obesity level and these parameters, and to compare between obese and non-obese participants. Materials (Subjects) and Methods: 1875 voluntary patients were evaluated. Patients were grouped into 5 according to body mass index (BMI) values: Group 1:17-24.99kg/m2, Group 2:25-29.99kg/m2, Group 3:30-34.99kg/m2, Group 4:35-35.99kg/m2, Group 5: BMI more than 40kg/m2. Patients were asked to fulfill a questionnaire about demographic data and a number of painful areas (neck, shoulder, elbow, wrist, back, low back, knee, ankle, and temporomandibular joint). All patients were evaluated with visual analog scale (VAS), for pain, short form-36 (SF-36) for HRQL, Beck Depression Scale (BDS) for depression level. Results:We have included 1832 patients (460 male, and 1372 female) in the study: Group 1: 285(16%), Group 2: 623(34%), Group 3: 653(36%), Group 4: 190(10%), Group 5: 81(4%). When the groups was compared according to VAS scores during activity; all other groups was higher than group 1 (p<0.01). When the BDS scores were compared; depression levels were higher in group 5 than the other groups. When a number of painful areas were compared; groups 3,4,5 had higher values than groups 1,2, and group 2 had higher values than group 1 (p<0.001). Conclusion: This study evaluates pain level, the number of painful areas, physical HRQL, and depression levels of pre-obese and obese patients using VAS, BDS, and SF-36 scores and proves negative effects when compared to the healthy population. But this effect does not correlate with BMI levels.Objective: The purpose of the study is to evaluate health-related quality of life (HRQL), pain, the number of painful areas, and depression level; both to compare obesity level and these parameters, and to compare between obese and non-obese participants. Materials (Subjects) and Methods: 1875 voluntary patients were evaluated. Patients were grouped into 5 according to body mass index (BMI) values: Group 1:17-24.99kg/m2, Group 2:25-29.99kg/m2, Group 3:30-34.99kg/m2, Group 4:35-35.99kg/m2, Group 5: BMI more than 40kg/m2. Patients were asked to fulfill a questionnaire about demographic data and a number of painful areas (neck, shoulder, elbow, wrist, back, low back, knee, ankle, and temporomandibular joint). All patients were evaluated with visual analog scale (VAS), for pain, short form-36 (SF-36) for HRQL, Beck Depression Scale (BDS) for depression level. Results:We have included 1832 patients (460 male, and 1372 female) in the study: Group 1: 285(16%), Group 2: 623(34%), Group 3: 653(36%), Group 4: 190(10%), Group 5: 81(4%). When the groups was compared according to VAS scores during activity; all other groups was higher than group 1 (p<0.01). When the BDS scores were compared; depression levels were higher in group 5 than the other groups. When a number of painful areas were compared; groups 3,4,5 had higher values than groups 1,2, and group 2 had higher values than group 1 (p<0.001). Conclusion: This study evaluates pain level, the number of painful areas, physical HRQL, and depression levels of pre-obese and obese patients using VAS, BDS, and SF-36 scores and proves negative effects when compared to the healthy population. But this effect does not correlate with BMI levels

A congenital cranial dysinnervation disorder: Möbius' syndrome

Moebius sendromu, diğer adıyla Moebius sekansı, doğuştan yüz ve göz sinirlerinde felç ile belirgin, ilerleyici olmayan bir kraniyal disinnervasyon bozukluğudur. Emmede zayıflık ve yüz felci nedeniyle izlenen, in vitro dölleme ile oluşan gebelik sonucu doğan, beş günlük kız hastaya iki taraflı pitoz ve dışa bakış kısıtlılığı, dilde sola kayma, dismorfik yüz görünümü, sol el parmak ve tırnaklarında hipoplazi bulguları ile birlikte Moebius sendromu tanısı konuldu. Bu sendroma üç, dört, beş, dokuz, 10 ve 12 gibi ek kraniyal sinir tutulumu, kol ve bacak gelişim anomalileri de eşlik edebilir. Etiolojide bir çok etmen öne sürülmekle beraber yardımcı üreme tekniklerine bağlı nadir olgular bildirilmiştir. Hastalarda beslenme güçlüğü ve aspirasyon sorunları süt çocukluğu döneminde karşılaşılan başlıca sorunlardır. Yüz felci ile doğan yenidoğan diğer kraniyal sinirler bakımından da ayrıntılı muayene edilmeli, ayırıcı tanıda Moebius sendromu ile birlikte diğer kraniyal disinnervasyon bozuklukları göz önünde bulundurulmalıdır.Möbius' syndrome, also known as Möbius' sequence, is a nonprogressive cranial dysinnervation disorder characterized by congenital facial and abducens nerve paralysis. Here, we report a 5-day-old girl who was conceived after in vitro fertilization with poor suck and facial paralysis. She had bilaterally ptosis and lateral gaze limitation, left-sided deviation of the tongue, dysmorphic face, hypoplastic fingers and finger nails on the left hand, and was diagnosed as having M&ouml;bius' syndrome. Involvement of other cranial nerves such as three, four, five, nine, 9 and 12, and limb malformations may accompany this syndrome. However, several factors have been proposed for the etiology, some rare cases have also been reported with artificial reproductive technologies. Feeding difficulties and aspiration are the main problems encountered in infancy. The other cranial nerves should be examined further in newborns who present with congenital facial palsy, and other cranial dysinnervation disorders should be considered in the differential diagnosis

SELECTION OF SEEDLING ROOTSTOCK FOR APRICOT

The aim of this study is to select promising wild apricot rootstocks among wild apricot populations propagated by seeds naturally found in Malatya, Erzincan, Nev?ehir, Sivas and Elaz?g provinces. In the first stage, land scans were carried out between 2007 and 2009 and 756 genotypes were determined which could be suitable for the characteristics of the rootstock by considering the phenotypic characteristics. On land surveys,&nbsp; the wild apricot trees that are healthy, productive, bitter seeds, thornless, dwarth growth habit and smooth trunk structure was selected. Among the marked wild apricot types were selected 240 types in 2008, 262 types in 2009 and 254 types in 2010. Seeds taken from these determined wild apricot trees were planted for 2 years in Erzincan and Malatya locations and germination experiments were carried out. In the study, Hasanbey and Hac?halilo?lu apricot varieties were used as control plants. Seed germination percentage, seedling diameter, height, diameter and high homogeneity were determined. At the end of three years of germination experiments were evaluated according to weighting ranking score and finally 8 types that has hight score selected for Malatya location and 18 types for Erzincan location. In the second step, these 26 types after selected in germination tests, was grafted by cv. Hac?halilo?lu in Malatya and by cv. Hasanbey in Erzincan. After grafting success, shoot diameter, homogenity, shoot length and homogenity were evaluated. Then, the data was selected according to weighting ranking score and finally 7 types (58/6, 58/7, 24/111, 24/7, 24/25, 24/33 and 44/8) that has hight score selected for Malatya and Erzincan locations, and transferred to the third stage. In third stage, collection orchards will be established and rootstocks-scion, yield, phenological observations, pomological analysis, tree growth and habit will be evaluated.&nbsp

Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naïve T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment

Examination of the child games in the booklet of ‘i am playing games’ used in the physical education and game lesson for primary school in terms of values and class teachers’ views about this

Bu araştırmanın temel amacı, ilkokul Beden Eğitimi ve Oyun dersinde kullanılan Oyun Oynuyorum Derleme Kitapçığında yer alan çocuk oyunlarının değerler açısından incelenmesi ve Beden Eğitimi ve Oyun dersinde öğrencilere kazandırılan değerlere ilişkin sınıf öğretmenlerinin görüşlerinin belirlenmesidir. Nitel araştırma yaklaşımı benimsenerek gerçekleştirilen araştırmanın verileri doküman incelemesi ve yarı yapılandırılmış görüşme yoluyla elde edilmiştir. Araştırmanın veri kaynaklarını Oyun Oynuyorum Derleme Kitapçığında yer alan oyunlar ve 21 sınıf öğretmeni oluşturmaktadır. Oyun Oynuyorum Derleme Kitapçığında yer alan 285 oyun 27 değer temel alınarak doküman analizi yoluyla incelenmiştir. Ayrıca Erzurum il, ilçe ve köylerinde görev yapmakta olan 21 sınıf öğretmeninden yüz yüze bireysel görüşmeler ile veriler toplanmıştır. Değerler analiz edilirken Oyunlarda Yer Alan Değerleri İnceleme Formu kullanılmıştır. Doküman incelemesi sonucunda Oyun Oynuyorum Derleme Kitapçığındaki oyunlarda en fazla yer alan değerler; yardımlaşma-dayanışma, çalışkanlık ve adil olma; oyunlarda en az yer alan değerler ise hoşgörü, aile birliğine önem verme ve iyimserlik olarak belirlenmiştir. 1.sınıf oyunlarında en fazla değer içeren oyun; Doğruyu Yapıştır Oyunu Kazan, 2.sınıf oyunlarında Asiye As, Aç Kuşlar 3. Sınıf oyunlarında Sporcu Hikâyesi, 4.sınıf oyunlarında Düşün-Bil-Bul oyunudur. Görüşmeler sonucunda öğretmenlerin çoğu, Oyun Oynuyorum Derleme Kitapçığı ve Fiziksel Etkinlik Kartlarından haberdar olduklarını; ancak çeşitli nedenlerle bu kitapçık ve kartlardan çok fazla yararlanamadıklarını belirtmişlerdir. Bunun sonucunda öğretmenler kitapçık ve kartlardaki oyunların yöresel farklılıklar, fiziki imkânlar ve kalabalık sınıflar gibi etkenler dikkate alınarak yeniden düzenlenebileceği önerisinde bulunmuşlardır. Beden Eğitimi ve Oyun yolu ile çocuğun saygı, sevgi, empati başta olmak üzere pek çok değeri kazandığını, bu değerleri kazandırırken çeşitli sorunların yaşandığını; ancak bu sorunları farklı çözüm yollarıyla çözmeye çalıştıklarını ifade etmişlerdir. Bu anlamda sınıf öğretmenleri Beden Eğitimi ve Oyun dersini daha etkin kullanarak bu derste değer öğretimine ağırlık verebilir. Oyun Oynuyorum Derleme Kitapçığındaki eksiklikler gözden geçirilerek tekrar düzenlenebilir.The main purpose of the study is to examine the child games in the ‘I Am Playing Games’ booklet used in Physical Education and Game lesson for primary schools in terms of values and to determine the primary school class teachers' views about the values inculcated in the lesson of Physical Education and Game. The data of the research conducted by adopting a qualitative research approach was obtained through document analysis and interview form. The data of the research consists of the games from the booklet of ‘I am playing games’ and 21 class teachers. 285 games from the booklet, 'I Am Playing Games' based on 27 basic values were analysed by document analysis. Additionally, the views of 21 primary school class teachers working in the provinces, districts and villages of the city, Erzurum were aimed to be determined through face-to-face interviews with regard to the values inculcated in the lesson of Physical Education and Game. During the analysis of the values, A Research Form was used for the values included in the games. As a result of the document review, the values that were mostly included in the booklet of 'I Am Playing Games' were determined as caring-cooperation, diligence and being just; the least mentioned values in the games were determined as tolerance, emphasis on family unity and optimism. The game which includes values the most for the first grade is ‘Paste the Right One and Win the Game’. For the second grade, Asiye Hang, Hungry Birds are examples of this case. For the third grade, The Story of The Player involves the values the most. For the fourth grade, Think-Know-Find includes the values the most. As a result of the interviews, most of the teachers stated that they were aware of the booklet, 'I Am Playing Games'; and physical activity cards, but they specified that they could not benefit from this booklet and physical activity cards because of the various circumstances. As a consequence of this, the teachers suggested that the booklet, 'I Am Playing Games ' and physical activity cards be rearranged by taking the factors such as local differences, physical facilities and crowded classes into account. Teachers also stated that the child gained many values such as respect, love, empathy in particular through physical education and game. In the process of gaining those values, they had troubles caused by the students, families and the school itself; and they tried to solve the problems with different methods they used. In this sense, the primary school class teachers can make the Physical Education and Game lesson more effective focusing on value in this course. The booklet of ‘I Am Playing Games' can be re-edited by reviewing the deficiencies in it

Examination of the child games in the booklet of ‘i am playing games’ used in the physical education and game lesson for primary school in terms of values and class teachers’ views about this

Bu araştırmanın temel amacı, ilkokul Beden Eğitimi ve Oyun dersinde kullanılan Oyun Oynuyorum Derleme Kitapçığında yer alan çocuk oyunlarının değerler açısından incelenmesi ve Beden Eğitimi ve Oyun dersinde öğrencilere kazandırılan değerlere ilişkin sınıf öğretmenlerinin görüşlerinin belirlenmesidir. Nitel araştırma yaklaşımı benimsenerek gerçekleştirilen araştırmanın verileri doküman incelemesi ve yarı yapılandırılmış görüşme yoluyla elde edilmiştir. Araştırmanın veri kaynaklarını Oyun Oynuyorum Derleme Kitapçığında yer alan oyunlar ve 21 sınıf öğretmeni oluşturmaktadır. Oyun Oynuyorum Derleme Kitapçığında yer alan 285 oyun 27 değer temel alınarak doküman analizi yoluyla incelenmiştir. Ayrıca Erzurum il, ilçe ve köylerinde görev yapmakta olan 21 sınıf öğretmeninden yüz yüze bireysel görüşmeler ile veriler toplanmıştır. Değerler analiz edilirken Oyunlarda Yer Alan Değerleri İnceleme Formu kullanılmıştır. Doküman incelemesi sonucunda Oyun Oynuyorum Derleme Kitapçığındaki oyunlarda en fazla yer alan değerler; yardımlaşma-dayanışma, çalışkanlık ve adil olma; oyunlarda en az yer alan değerler ise hoşgörü, aile birliğine önem verme ve iyimserlik olarak belirlenmiştir. 1.sınıf oyunlarında en fazla değer içeren oyun; Doğruyu Yapıştır Oyunu Kazan, 2.sınıf oyunlarında Asiye As, Aç Kuşlar 3. Sınıf oyunlarında Sporcu Hikâyesi, 4.sınıf oyunlarında Düşün-Bil-Bul oyunudur. Görüşmeler sonucunda öğretmenlerin çoğu, Oyun Oynuyorum Derleme Kitapçığı ve Fiziksel Etkinlik Kartlarından haberdar olduklarını; ancak çeşitli nedenlerle bu kitapçık ve kartlardan çok fazla yararlanamadıklarını belirtmişlerdir. Bunun sonucunda öğretmenler kitapçık ve kartlardaki oyunların yöresel farklılıklar, fiziki imkânlar ve kalabalık sınıflar gibi etkenler dikkate alınarak yeniden düzenlenebileceği önerisinde bulunmuşlardır. Beden Eğitimi ve Oyun yolu ile çocuğun saygı, sevgi, empati başta olmak üzere pek çok değeri kazandığını, bu değerleri kazandırırken çeşitli sorunların yaşandığını; ancak bu sorunları farklı çözüm yollarıyla çözmeye çalıştıklarını ifade etmişlerdir. Bu anlamda sınıf öğretmenleri Beden Eğitimi ve Oyun dersini daha etkin kullanarak bu derste değer öğretimine ağırlık verebilir. Oyun Oynuyorum Derleme Kitapçığındaki eksiklikler gözden geçirilerek tekrar düzenlenebilir.The main purpose of the study is to examine the child games in the ‘I Am Playing Games’ booklet used in Physical Education and Game lesson for primary schools in terms of values and to determine the primary school class teachers' views about the values inculcated in the lesson of Physical Education and Game. The data of the research conducted by adopting a qualitative research approach was obtained through document analysis and interview form. The data of the research consists of the games from the booklet of ‘I am playing games’ and 21 class teachers. 285 games from the booklet, 'I Am Playing Games' based on 27 basic values were analysed by document analysis. Additionally, the views of 21 primary school class teachers working in the provinces, districts and villages of the city, Erzurum were aimed to be determined through face-to-face interviews with regard to the values inculcated in the lesson of Physical Education and Game. During the analysis of the values, A Research Form was used for the values included in the games. As a result of the document review, the values that were mostly included in the booklet of 'I Am Playing Games' were determined as caring-cooperation, diligence and being just; the least mentioned values in the games were determined as tolerance, emphasis on family unity and optimism. The game which includes values the most for the first grade is ‘Paste the Right One and Win the Game’. For the second grade, Asiye Hang, Hungry Birds are examples of this case. For the third grade, The Story of The Player involves the values the most. For the fourth grade, Think-Know-Find includes the values the most. As a result of the interviews, most of the teachers stated that they were aware of the booklet, 'I Am Playing Games'; and physical activity cards, but they specified that they could not benefit from this booklet and physical activity cards because of the various circumstances. As a consequence of this, the teachers suggested that the booklet, 'I Am Playing Games ' and physical activity cards be rearranged by taking the factors such as local differences, physical facilities and crowded classes into account. Teachers also stated that the child gained many values such as respect, love, empathy in particular through physical education and game. In the process of gaining those values, they had troubles caused by the students, families and the school itself; and they tried to solve the problems with different methods they used. In this sense, the primary school class teachers can make the Physical Education and Game lesson more effective focusing on value in this course. The booklet of ‘I Am Playing Games' can be re-edited by reviewing the deficiencies in it

Georg Britting’in “Altwasser’da Kardeş Katli” Adlı Öyküsünde Kabil ve Habil Motifi

Kabil'in kardeşi Habil'i öldürmesi ile ilk cinayet işlenmiş ve bu vaka insanlığın, kendi ihtiraslarına yenik düşüp karanlık tarafa geçebileceğinin bir kanıtı olmuştur. Aynı zamanda Kabil'in işlediği cinayet insanın içinde hep var olan ve zaman içinde değişen, gelişen ve büyüyen öteki kötülüklerin de başlangıcı kabul edilir. Kutsal Kitaplarda anlatılan bu iki kardeşin yaşadıkları olaya, şimdinin gözünden geçmişe doğru bakıldığında insanın ne büyük kötülüklere teşebbüs edebilecek bir varlık olduğu görülür. Kabil ve Habil karakterlerinde yansımasını bulan iyi ve kötü arasındaki ikilem ve bu ikilemin doğurduğu öteki çatışmalar yazarlar içinde büyük bir esin kaynağı olmuştur. Özellikle batı Avrupa edebiyatının temelini oluşturan Antik Yunan ve Yahudi-Hristiyan kültürü, batılı yazarların eserlerinde farklı şekillerde adapte edilmiştir. Bunlardan biri olan Kardeş katli motifi bu çalışmamızda Georg Britting'in "Altwasser'da Kardeş Katli [Ein Brudermord im Altwasser]" adlı öyküsü içinde yorumlanmaya çalışılmıştır. Cain killing his brother Abel, the first homicide was committed and this incident is evidence that humankind can move over to the dark side by their ego taking a beating. Also, the homicide that Cain committed is recognized as the very beginning of the other misdeeds which have always existed and changed, evolved and grown in humankind in the course of time. As far as the incident which happened between two brothers narrated in the holy books, it is observed better with the perspective of today over the past that Human is such a creature that He is capable of doing any evil. The dilemma of good and evil reflected by the characters of Cain and Abel and the other conflicts stemming from this dilemma were such great inspirations among writers. Particularly, The Ancient Greek and Judeo-Christian culture which lay foundation of the Western Europe Literature were adapted for the works of the western writers in various ways. In this study, we have attempted to interpret "Murdering the brother", being one of those themes in the story of "Ein Brudermord im Altwasser" by Georg Britting