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  • Küçük Resim
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    The basic needs of children on haemodialysis in Turkey
    (2008) Ensari, Cüneyt
    Background. Haemodialysis treatment can be very tiring and unpleasant, particularly for paediatric patients, families and also for the treatment team. In this study, the basic needs of children on haemodialysis were determined in order to improve the conditions of their therapy environment. Methods. The requirements of 20 children and 40 adults, who were on haemodialysis therapy for a minimum of five sessions, were recorded by means of a questionnaire. Results. The majority of children and adults preferred to be treated in separate units. All children and adults stated that they needed a constant transportation facility to be provided by the dialysis unit. All children wanted their parents/relatives to be with them during the dialysis sessions while only a minority of adults required an accompanying relative. The majority of both paediatric and adult patients preferred daytime sessions. The majority of children preferred to have the same nurse to needle their fistula and supervise their therapy session. Conclusions. The health authority should recognize the role of the therapy team, including a paediatric nephrologist, in providing the basic needs and fulfilling the expectations of paediatric haemodialysis patients in order to increase the efficiency of the treatment. © The Author [2008]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.
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    The spectrum of FMF mutations and genotypes in the referrals to molecular genetic laboratory at KÄaut +/- rÄaut +/- kkale University in Turkey
    (Springer, 2009) Günel-Özcan, Ayşen; Sayin, Derya Beyza; Mısırlıoğlu, Emine Dibek; Guliter, Sefa; Yakaryilmaz, Fahri; Ensari, Cüneyt
    Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disorder characterised by recurrent and self-limited abdominal pain, synovitis and pleuritis. MEFV gene mutations are responsible from the disease and its protein product, pyrin or marenostrin, plays an essential role in the regulation of the inflammatory reactions. MEFV gene contains 10 exons and most of the mutations have been found on the last exon. Up to date, 152 mutations and polymorpisms have been reported inwhere V726A, M694V, M694I, M680I and E148Q are the most common mutations. In this study, MEFV allele frequencies of 136 individuals (60 from Pediatry, 76 from Internal Medicine) have been evaluated, and compared with each other. Asymptomatic individuals with FMF family history (4 from Pediatry, 6 from Internal Medicine) were excluded from the analysis. The prominent mutations indicated in the Pediatry group are V726A, M694V and M680I (G/C) and with the allele frequency of 0.06, 0.05 and 0.04 respectively while they were E148Q, M694V, M680I (G/C) in the Internal Medicine group with the allele frequency of 0.12, 0.08 and 0.04. The E148Q mutation is significantly overrepresented in the adult referrals (P = 0.02). Mutation on both alleles was observed in only 12% of cases. Overall mutation frequency was low, seen in 26.2% (66/252). However, when only diagnosed patients were analyzed it is 72.7% (16/22). It is also interesting that 63% of individuals are female that there may be sex influence on FMF phenotype.