A rare presentation of ataxia telangiectasia: ımmunodeficiency with monoclonal ıgm gammapathy

Otozomal resesif bir hastalık olan ataksi-telenjiektazi ilerleyici serebellar ataksi, immün yetersizlik, telenjiektazi, kromozomal instabilite, kanser gelişimine eğilim ve radyasyona duyarlılık ile karakterizedir. Hastalıktan sorumlu gen 11q22-23 de lokalizedir. Humoral ve hücresel immünitede değişik derecelerde bozukluklar bildirilmiştir. Burada ataksik yürüyüş, bulber konjunktivada ve kulak sayvanında telenjiektaziler, alfa-fetoproteinde yükseklik ve immün yetersizlik varlığı ile ataksi-telenjiektazi tanısı konulan dokuz yaşında erkek hasta sunuldu. ımmünolojik değerlendirmede serum IgG ve IgA'da belirgin düşüklük olan olguda IgM yüksek olarak saptandı. ımmün fiksasyon elektroforezinde monoklonal IgM ve kappa artışı saptandı. Lenfosit fenotiplemesi ve CD40 ligandın T hücrelerdeki ekspresyonu normal oranda tespit edildi. Olguda izlenen monoklonal IgM artışı ataksi-telenjiektazili olgularda rekombinasyon defekti nedeniyle izlenebilen IgM'den IgA ve IgG'ye izotip dönüşümündeki yetersizliğe bağlandı.Ataxia telangiectasia is an autosomal recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, telangiectasia, chromosomal instability, cancer susceptibility and radiation sensitivity. The ataxia telangiectasia gene is located on chromosome 11q22-23. Various degrees of abnormalities in T and B cell immunity have been described.We report a 9-year-old boy diagnosed as ataxia telangiectasia including clinical features of progressive ataxia, telangiectasia, immunodeficiency and elevated serum levels of alpha fetoprotein. Immunologic evaluation revealed high levels of serum IgM and very low IgG and IgA levels. Immune fixation electrophoresis showed monoclonal IgM and kappa increase. His lymphocyte phenotyping studies and CD40 ligand on T lymphocytes were normal. His monoclonal gammapathy of the IgM type was attributed to failure of the switch process from IgM production to IgAand IgG, due to a recombination defect

The Quality of Life and Mental Health in Children with Primary Immunodeficiency

Primary immunodeficiency disorders (PIDs) are characterized by recurrent and numerous infections, autoimmune disorders, and malignancies. These diseases are a heterogeneous group that contains many disorders caused by the disruption of the immune system. Despite being seen rarely, PIDs lead to serious morbidity and mortality. Children and adolescents with PIDs are expected to have a higher prevalence of psychopathologies and a lower level of the health quality of life In this text, we aim to review and summarize the current literature

Effect of Short-term Probiotic Yogurt Consumption on Caries Risk Factors in Infants

Aim:We aimed to evaluate the effect of short-term probiotic yogurt consumption on pH, buffering capacity, and Streptococcus Mutans, Lactobacilli and secretory immunoglobulin A (sIgA) levels in saliva of 6-8 months old healthy infants.Materials and Methods:Twenty healthy infants and their mothers were enrolled in the study. They were randomly allocated into two groups as study and control. In the study group, probiotic yogurt (Bifidobacterium Longum BB536, Bifidobacterium Bifidum Bb12, Lactobacillus Rhamnosus HN001) was given to infants for 3 weeks whereas, in the control group, home-made yogurt was consumed. A dental saliva pH-Indicator strip (GC, Japan) was used for salivary pH measurements. Buffering capacity was determined using CRT buffer (Ivoclar Vivadent, Liechtenstein). The counts of salivary mutans streptococci and lactobacilli were evaluated using CRT bacteria (Ivoclar Vivadent,Liechtenstein). ELISA was used for sIgA. Scores at baseline and three weeks after were statistically evaluated by Wilcoxon test using the IBM SPSS 20.0 program.Results:Salivary pH, IgA, S. mutans and lactobacilli values showed no significant change after 3 weeks of probiotic yogurt consumption, however there was a statistically significant increase in the buffering capacity of saliva (p=0.04).Conclusion:Short-term probiotic yogurt intervention in infants during the early stages of life might have benefits for oral health. Further studies with both short- and long-term use of probiotics must be implemented in infants to confirm the results and see the effects on other caries risk factors

The remarkable clinical course of a case with chronic granulomatous disease: A case report

Chronic granulomatous disease (CGO) is a rare congenital immunodeficiency with failure to produce oxidative burst which is essential for phagocytosis. A good prognosis is usually provided with conventional treatment. We present a case of CGO with ceftriaxone hypersensitivity who had been misdiagnosed as hepatic hydatid cyst and pulmonary tuberculosis.Chronic granulomatous disease (CGO) is a rare congenital immunodeficiency with failure to produce oxidative burst which is essential for phagocytosis. A good prognosis is usually provided with conventional treatment. We present a case of CGO with ceftriaxone hypersensitivity who had been misdiagnosed as hepatic hydatid cyst and pulmonary tuberculosis

Fashion Phenomenon in Postmodern Marketing Applications and Effects on the Marketing Components

One of the concepts with significant effects on the way of living of the consumers in their preferences of consumption in our times is fashion. Fashion is an important factor constituting an important portion of daily consumption decisions as well as being in the center of the daily events. Liberalization seen in the world in recent years and particularly falling apart of the USSR and the free market economy has enlarged the alternative markets in the international markets and the operations entered a ruthless competency with domestic and foreign competitors in their own markets and in foreign markets. Following this, the global markets and global competency was introduced. The economic changes appearing as a result of political changes and the particularly the stunning developments in the informatics technologies have revealed the need for radical changes in all the functions and the understanding of management of operations. In our study, the effects of the phenomenon of fashion in the marketing understanding and applications on the marketing components were investigated. In the application section, the project of Istanbul Shopping Fest aiming at making Istanbul a trading center as a global brand for European and Middle Asian countries in the first place and for other surrounding countries making use of not only the clothing and fashion products, but also the values other than clothing like food and cultural and touristic values. Organizations that implement this project within the scope of the Fest in Istanbul between March 18 and 26, 2011 include institutions and organizations like the Ministry of Culture; Turkish Airlines, TAV Operations Group, Istanbul Metropolitan Municipality, Istanbul Sabiha Gokcen Airport, Istanbul Trading Center (ITO), and Istanbul Provincial Governorship and big sponsors consisting of leading brands of Turkey like Turkcell, Sinpas and BKM (Inter-bank Card Center). Two hundred forty brands participate in the Istanbul Shopping Fest applications in-and outside 42 Shopping Centers in Istanbul. These brands are not only the brands of the textile sector; restaurants, cafes, and many other operations are also included in this festival. Furthermore, providing added value to the campaign as regards the tourism sector is aimed at through the tourists coming from abroad. In addition, interviews were made with various persons using the in-depth interview technique. In-depth interview with Ms. Nurten Kurt, deputy general director and one of the most important names of the project and details of the project were obtained. Questionnaire technique was not used. The reason for this is the in-depth evaluation of this project as regards marketing and taking the data of the BKM (Interbank Card Center) and the press and the material support of the citizens of Istanbul for the project as the subject matter of the application. All the Istanbul and the in-coming tourists and the rising credit card data show how successful is the project

Fashion Phenomenon in Postmodern Marketing Applications and Effects on the Marketing Components

AbstractOne of the concepts with significant effects on the way of living of the consumers in their preferences of consumption in our times is fashion. Fashion is an important factor constituting an important portion of daily consumption decisions as well as being in the center of the daily events. Liberalization seen in the world in recent years and particularly falling apart of the USSR and the free market economy has enlarged the alternative markets in the international markets and the operations entered a ruthless competency with domestic and foreign competitors in their own markets and in foreign markets. Following this, the global markets and global competency was introduced. The economic changes appearing as a result of political changes and the particularly the stunning developments in the informatics technologies have revealed the need for radical changes in all the functions and the understanding of management of operations. In our study, the effects of the phenomenon of fashion in the marketing understanding and applications on the marketing components were investigated. In the application section, the project of Istanbul Shopping Fest aiming at making Istanbul a trading center as a global brand for European and Middle Asian countries in the first place and for other surrounding countries making use of not only the clothing and fashion products, but also the values other than clothing like food and cultural and touristic values. Organizations that implement this project within the scope of the Fest in Istanbul between March 18 and 26, 2011 include institutions and organizations like the Ministry of Culture; Turkish Airlines, TAV Operations Group, Istanbul Metropolitan Municipality, Istanbul Sabiha Gökçen Airport, Istanbul Trading Center (İTO), and Istanbul Provincial Governorship and big sponsors consisting of leading brands of Turkey like Turkcell, Sinpaş and BKM (Inter-bank Card Center). Two hundred forty brands participate in the Istanbul Shopping Fest applications in- and outside 42 Shopping Centers in Istanbul. These brands are not only the brands of the textile sector; restaurants, cafes, and many other operations are also included in this festival. Furthermore, providing added value to the campaign as regards the tourism sector is aimed at through the tourists coming from abroad. In addition, interviews were made with various persons using the in-depth interview technique. In-depth interview with Ms. Nurten Kurt, deputy general director and one of the most important names of the project and details of the project were obtained. Questionnaire technique was not used. The reason for this is the in-depth evaluation of this project as regards marketing and taking the data of the BKM (Interbank Card Center) and the press and the material support of the citizens of Istanbul for the project as the subject matter of the application. All the Istanbul and the in-coming tourists and the rising credit card data show how successful is the project

21. YÜZYIL PAZARLAMASI AÇISINDAN HIZLI MODA VE YAPAY KITLIK KAVRAMI: TCHIBO ÖRNEĞİ

Günümüz postmodern pazarlama anlayışında, değişen tüketici istek ve ihtiyaçları hızlı moda kavramının getirdiği yapay kıtlık ile tüketiciler sürekli ve yeni moda trendleri istemektedirler. İşte bu değişen tüketici istek ve davranışlarına ayak uydurmak isteyen işletmelerde bu sürecin içine girmiştir. Yapay kıtlık kavramı ile ürünün olgunluk dönemindeki kazancını maksimum etmek isteyen Tchibo firması, yapay kıtlık yaklaşımı ile rakiplerine göre avantaj sağlayarak tedarik zincirinde öne geçmektedir. Bu çalışmanın amacı hızlı modada yapay kıtlık kavramını açıklamak ve bu modelin Tchibo tüketicileri üzerindeki etkisini ölçmektir. Pazarlama çabaları ve tedarik zinciri ile ürün yaşam eğrisindeki ilişkileriyle beraber yapay kıtlığın Türkçe literatüre de katkısı hedeflenmiştir. Araştırmanın kantitatif kısmında yüz yüze anket çalışması yapılmıştır. Araştırma modelinde bağımsız değişken olan algılanan yapay kıtlık kavramı ile bağımlı değişken olan tüketici davranışları ve ayrıca sözde pahalılık, algılanan ödenebilen para, algılanan değer ve algılanan kalite değişkenlerinin kendi aralarındaki ilişkiler SPSS istatistik programı analizleriyle açıklanarak yorumlanmıştı