Friedreich's ataxia (FRDA), the most common subtype of early onset hereditary spinocerebellar ataxia (SCA), is an autosomal recessive neurodegenerative disorder caused by unstable GAA tri-nucleotide expansions in the first intron of FRDA gene located at 9q13-q21.1 position. Results of GAA repeat polymorphism in 80 Turkish SCA patients and 38 family members of 11 typical FRDA patients were reported. GAA triplet repeat size ranged from approximately 7 to 34 in normal alleles and from approximately 66 to 1300 in mutant alleles. Twenty six patients were homozygous for GAA expansion and size of expanded alleles differed from approximately 425 to 1300 repeats. Children 2 and 6 years old (showing no ataxia symptoms) of one family had homozygous GAA expansions reaching approximately 925 repeats. All 11 families studied had at least 1 afflicted child and 9 parents and 2 siblings were carrier (heterozygous) with mutant alleles ranging from 66 to 850 repeats. Family studies confirmed the meiotic instability and stronger effect of expansion in the smaller alleles on phenotype and a negative correlation between GAA repeat expansion size and onset-age of the disease.

ÖZETÇukurova Üniversitesi Tıp Fakültesi (ÇÜTF) bünyesinde yürütülmekte olan faaliyetlere ait iş akış şemaları oluşturulmak amacı ile öncesinde ihtiyaç duyulabilecek bilgiler toplanarak bir ön araştırma yapılmıştır. Literatür verilerine göre Türkiye'de pek çok fakültenin iş akış şemalarının olduğu fakat iş akış örgütlenme şeması organizasyonuna ait optimizasyon çalışması bulunmadığı dikkati çekmiştir. Bu nedenle sırasıyla bilgilerin derlenmesi, elde edilen veriler doğrultusunda iş akış şemalarının çizilmesi ve çizilen her bir şemanın ilgili ekipler tarafından gözden geçirilmesi, problem ortaya konularak simulasyon modellemenin oluşturulması, ve son olarak optimizasyon modelleme yöntemini içeren dört aşamadan oluşan bir proje hazırlanmıştır. Birinci ve ikinci aşamanın sunulduğu bu çalışmada karşılaşılan zorluklar, iş akış şemalarının avantaj ve dezavantajları sunulmuştur. Anahtar kelimeler: Organizasyon, iş, akış şeması, simülasyon, optimizasyon ABSTRACT A preliminary investigation is made to form work flow charts about activities that are carried out in Cukurova University Faculty of Medicine (CUFM) by collecting meta-information that might be needed. According to the data from literature it is noteworthy that many of the faculties in Turkey have work flow charts but there is not any optimization study about work flow organisation scheme.Due to this, a project, consisting of four stages, which are information gathering, forming work flow charts according to the gathered information and control of these charts by relevant experts, forming of simulation models by putting the problems forward, and lastly using optimization modelling method, is prepared. In this study, which covers first and second stages, difficulties that are encountered, advantages and disadvantages of work flow charts are presented.

Background/aim: Spinocerebellar ataxias (SCAs) are complex clinical and genetically heterogeneous, mostly autosomal dominant neurodegenerative diseases. At present, more than 30 hereditary SCA types have been associated with different gene mutations. In this study, the frequency distribution of the 6 SCA types 1, 2, 3, 6, 7, and 17 in the Turkish population was investigated with respect to clinical features.Materials and methods: 159 patients who received a diagnosis of SCA and 42 healthy controls from Adana, Mersin, Gaziantep, Hatay, and Osmaniye provinces were included in the study. DNA samples were isolated from 2 mL blood samples and the number of trinucleotide repeats (TNRs) for each SCA type was detected using PCR-RFLP technique and sequencing.Results: Of the 6 SCA types that were studied, 4 types, SCA 1, 3, 7, and 17, were positive and all heterozygous for expansions. SCA types 1 and 17 had higher frequencies, 4.4% and 3.8%, respectively, than SCA types 3 and 7. The clinical data of patients were also evaluated to correlate with the increased TNR numbers. Conclusion:This study, being the first mutation record of SCAs in this area, indicated that 9.4% of cases belonged to 4 types, SCA 1, 3, 7, and 17.

Syncope is defined as a transient loss of consciousness due to sudden temporary decline in cerebral perfusion. Cough syncope is classically seen in middle aged obese men with obstructive pulmonary disease. In patients that use Angiotensin converting enzyme (ACE) inhibitors, a dry persistent cough can emerge due to the side effects of this medication. Seventy years old male patient that use ACE inhibitor for hypertension accepted to the clinic with the complaint of syncope. A bout of coughing has developed during electroencephalography recording and 10 seconds in duration of subcortical like epileptiform discharges were viewed. The ACE inhibitor the patient was receiving was replaced with calcium channel blocker and no complaint was observed during the follow up period. Key words: ACE inhibitor, cough, syncope. ÖZETSenkop, serebral perfüzyonun aniden geçici olarak düşmesiyle ortaya çıkan geçici bilinç kaybı olarak tanımlanır. Obstrüktif akciğer hastalığı olan orta yaşlı obez erkeklerde öksürüğe bağlı senkop klasik olarak görülmektedir. Anjiyotensin konverting enzim (ACE) inhibitörü kullanan hastalarda bu ilacın yan etkisi olarak kalıcı kuru öksürük görülebilmektedir. Hipertansiyon tedavisi için ACE inhibitörü kullanan yetmiş yaşındaki erkek hasta senkop şikayeti ile kliniğe kabul edildi. Elektroensefalografi kaydı sırasında bir öksürük nöbeti gelişti ve süresi 10 saniye olan subkortikal benzeri epileptiform deşarjlar görüldü. Hastanın kullandığı ACE inhibitörü kalsiyum kanal blokörleri ile değiştirildiğinde takip periyodunda herhangi bir komplikasyona rastlanmadı. Anahtar kelimeler: ACE inhibitörü, öksürük, senkop.

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