Turner syndrome and associated problems in turkish children: A multicenter study

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosi) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. © Journal of Clinical Research in Pediatric Endocrinology

Bell's Palsy as a Possible Complication of Hepatitis B Vaccination in A Child

Bell's Palsy is the sudden onset of unilateral temporary paralysis of facial muscles resulting from seventh cranial nerve dysfunction. Presented here is a two-year old female patient with right peripheral facial palsy following hepatitis B vaccination. Readers’ attention is drawn to an uncommon cause of Bell's Palsy, as a rare complication of hepatitis B vaccination

Investigation of the role of technological products used in the retail industry on customer relations

Gelişen teknoloji ile ürün çeşitliliği ile tüketici ihtiyaçları artmaktadır. Müşterilerin tercih imkanı olduğunu bilmekte, güvendikleri ve özel hissettikleri firmaları tercih etmektedirler. Firmaların ve şirketlerin başlıca amacı yeni müşteriler ulaşmaktır ancak daha önemli olan var olan müşteriyi elinde tutabilmektir. Müşteri sürekliliğinin önemli hale gelmesi, firmaları müşteri odaklı yöntemler seçmeye yöneltmiştir. Bunun için müşteriler ile ilgili doğru analizlere ihtiyaç vardır. Firmalar gelişen yazılım programları sayesinde müşterilerine daha kolay ulaşmakta, onlara özel indirimler, kampanyalar vs. düzenleyerek firmaya bağlılığını artırmak istemektedirler. Özellikle perakende sektöründe sadakat kart kullanımı yaygınlaşmış ve bu kartlar ile alışveriş kayıtları tutularak istatistiksel çalışmalar yapılmaktadır. Puan biriktirme sistemi ile müşteri tekrar alışveriş yapmaya teşvik edilmektedir. Akıllı telefon uygulamaları ile perakende sektöründe rekabet iyice artmıştır. Bu çalışmada Müşteri İlişkileri Yönetimi (CRM) hakkında bilgi verilip, yeni teknolojik araçların kullanımının araştırılması ve sonuçları incelenmiştir.With the developing technology and product variety, consumer needs are increasing. They know that customers have the opportunity to choose, and they prefer companies that they trust and feel special. The main purpose of companies and companies is to reach new customers, but the more important thing is to retain the existing customer. The fact that customer continuity has become important has led companies to choose customer-oriented methods. For this, accurate analyzes about customers are needed. Thanks to the developing software programs, companies reach their customers more easily, special discounts, campaigns, etc. They want to increase their loyalty to the company by organizing especially in the retail sector, the use of loyalty cards has become widespread and statistical studies are carried out by keeping shopping records with these cards. With the point accumulation system, customers are encouraged to shop again. Competition in the retail sector has increased with smart phone applications. In this study, information about Customer Relationship Management (CRM) is given, the use of new technological tools is investigated, and its results are examined

Identification and self-tuning control of dynamic systems

Thesis (M.S.)--Massachusetts Institute of Technology, Dept. of Mechanical Engineering, 1995.Vita.Includes bibliographical references (leaves 103-111).by Ali Yurdun Orbak.M.S

Severe vitamin D deficiency in 6 Canadian First Nation formula-fed infants

Background. Rickets was first described in the 17th century and vitamin D deficiency was recognized as the underlying cause in the early 1900s. Despite this long history, vitamin D deficiency remains a significant health concern. Currently, vitamin D supplementation is recommended in Canada for breast fed infants. There are no recommendations for supplementation in formula-fed infants. Objective. The objective of this report is to bring attention to the risk of severe vitamin D deficiency in high risk, formula fed infants. Design. A retrospective chart review was used to create this clinical case series. Results. Severe vitamin D deficiency was diagnosed in six formula-fed infants over a two-and-a-half year period. All six infants presented with seizures and they resided in First Nation communities located at latitude 54 in the province of Manitoba. While these infants had several risk factors for vitamin D deficiency, they were all receiving cow's milk based formula supplemented with 400 IU/L of vitamin D. Conclusion. This report suggests that current practice with regards to vitamin D supplementation may be inadequate, especially for high-risk infants. Health care professionals providing service to infants in a similar situation should be aware of this preventable condition. Hopefully this would contribute to its prevention, diagnosis and management

Hartnup Disease Masked by Kwashiorkor

This report describes an 11-month old girl with Hartnup disease presenting with kwashiorkor and acrodermatitis enteropathica-like skin lesions but free of other clinical findings. This case with kwashiorkor had acrodermatitis enteropathica-like desquamative skin eruption. Since zinc level was in the normal range, investigation for a metabolic disorder was considered, and Hartnup disease was diagnosed

Endothelial nitric oxide synthase gene polymorphisms associated with periodontal diseases in Turkish adults

Endothelial nitric oxide synthase (NOS3) is involved in key steps of immune response. Genetic factors predispose individuals to periodontal disease. This study's aim was to explore the association between NOS3 gene polymorphisms and clinical parameters in patients with periodontal disease. Genomic DNA was obtained from the peripheral blood of 23 subjects with aggressive periodontitis (AgP), 26 with chronic periodontitis (CP), 31 with gingivitis (G) and 50 healthy controls. Probing depth (PD), clinical attachment loss (CAL), plaque index (PI) and gingival index (GI) were recorded as clinical parameters. We genotyped NOS3 polymorphisms using the PCR and/or PCR-RFLP method. Genotype frequencies differed significantly among periodontal diseases and controls for these polymorphisms. A significant association was detected between NOS3 +894 polymorphism and PD and CAL in the CP and AgP patient groups; whereas NOS VNTR analysis detected no associations with clinical parameters in theCP and AgP groups. However, a significant association was detected between the AA genotype and both PI and GI in patients with gingivitis; and a significant association was shown between the BB genotype and PI. The present study shows that two common polymorphisms of the NOS3 gene cluster are significantly associated with the occurrence of periodontal diseases

Bell's Palsy as a Possible Complication of Hepatitis B Vaccination in A Child

Bell's Palsy is the sudden onset of unilateral temporary paralysis of facial muscles resulting from seventh cranial nerve dysfunction. Presented here is a two-year old female patient with right peripheral facial palsy following hepatitis B vaccination. Readers' attention is drawn to an uncommon cause of Bell's Palsy, as a rare complication of hepatitis B vaccination