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    Analysis of the ß-glucocerebrosidase gene in Turkish Gaucher disease patients: Mutation profile and description of a novel mutant allele
    (2012) Karaca E.; Kalkan S.; Onay H.; Aykut A.; Coker M.; Özkınay F.
    Gaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipid storage disorder characterized by a decreased lysosomal activity of the enzyme ß-glucocerebrosidase (GBA; EC 3.2.1.45). The aim of this study was to evaluate the spectrum of the GBA gene mutations in Turkish GD patients and to explore genotype/phenotype associations. The molecular characterization of 32 unrelated Turkish GD patients with three types of the disease was defined. Mutation analysis identified 96.9 % of the GD alleles. The N370S mutation had the highest prevalence (50 % ) followed by the L444P (35.5 % ) alleles. We identified a novel L385R missense mutation that is associated with type 1 GD.
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    A case diagnosed with biotinidase deficiency in newborn screening test [Yenidogan tarama testinde biotinidaz eksikligi saptanan bir olgu]
    (Turkiye Klinikleri, 2014) Kavasoglu A.N.; Onay H.; Köse M.; Durmaz A.; Kalkan S.; Çoker M.; Özkınay F.
    Biotinidase deficiency is a hereditary disorder of biotin metabolism. The incidence of biotinidase deficiency is indicated as approximately 1/60 000. However, this disease is seen more frequently in Turkey. This enzyme allows the body to use and to recycle the B vitamin biotin. The main findings in biotinidase deficiency leads to nervous system and skin. Prompt diagnosis and early treatment prevents irreversible complications like hearing loss and optic atrophy. Identification of BTD gene mutations in individual patients is important to give genetic counseling and to browse other family members about this disease. In this study we present a non-symptomatic female patient with biotinidase deficiency who was diagnosed in the newborn screening. Biotinidase activity was determined 3% of the patient. BTD gene mutation analysis was performed and p.Q456H, c.1324delG (p.V442SfsX59) and p.D444H mutations were found. Mutations in the patient were assessed by parental mutation analysis. Copyright © 2014 by Türkiye Klinikleri.
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    Importance of inhaler device use status in the control of asthma in adults: The asthma inhaler treatment study
    (2014) Yildiz F.; Erbagci A.; Demirel Y.S.; Akcali S.D.; Ekici A.; Dursunoglu N.; Ediger D.; Erdinc M.; Cemri S.C.; Kalyoncu A.F.; Guclu S.Z.; Aktogu S.; Bayram G.B.; Bayram M.; Akgun M.; Mirici A.; Akyildiz L.; Celik P.; Guven A.O.; Camsari G.; Ozseker F.; Cimen F.; Kurutepe M.; Senyigit A.; Bektas Y.; Ozbudak O.; Saylan B.; Baslilar S.; Polatli M.; Cagatay T.; Kalkan S.; Ozer A.
    BACKGROUND: Proper education and training in correct inhalation technique has been reported to have a substantial role in the achievement of optimal therapeutic benefit and asthma control. The present study was designed to evaluate inhaler technique and the role of education in relation to asthma control among patients with persistent asthma in Turkey. METHODS: A total of 572 patients with persistent asthma (mean ± SD age 42.7 ± 12.2 y, 76% females) were included in this non-interventional, observational, registry study conducted across Turkey. Data on the effective and correct use of inhaler devices were collected via the Ease of Use for the Inhaler Device Questionnaire to patients and physicians. RESULTS: Asthma control (overall 61.5% at baseline, and increased to 87.3% during follow-up) was better, with significant improvement in technique and decrease in basic errors to the range 0-1, regardless of the inhaler type. Overall, the most common basic error associated with inhalation maneuvers was failure to exhale before inhaling through the device (18.9%). There was concordance between the patients and physicians in the ratio of correct inhaler technique only for spray-type inhalers. CONCLUSIONS: Close follow-up with repeated checking of the patient's inhaler technique and correction of errors each time by a physician seem to be associated with a significant decrease in the percent of patients who make basic errors in inhalation maneuvers and device-independent errors, and with better control of persistent asthma. © 2014 Daedalus Enterprises.
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    Pulmonary arterial hypertension in patients with primary sjögren's syndrome
    (2014) Kobak S.; Kalkan S.; Kirilmaz B.; Orman M.; Ercan E.
    Introduction. Primary Sjögren's syndrome (pSS) is an autoimmune epithelitis. Pulmonary arterial hypertension (PAH) is an important and severe complication, which is encountered in many collagen tissue disorders. Early diagnostic strategies are required to define it at the asymptomatic stage. Doppler echocardiography is an important, noninvasive screening test for PAH diagnosis. Objective. The aim of this present study is to define the frequency of PAH in patients with pSS and to reveal correlations with laboratory and clinical findings. Material and Methods. A total of 47 patients, who were diagnosed with pSS according to American-European Study Group criteria were enrolled in the study. After all patients were evaluated clinically and by laboratory tests, Doppler echocardiography was performed in the cardiology outpatient clinic. Systolic pulmonary artery pressure (SPAP) >30 mm Hg values, which were measured at the resting state, were accepted as significant for PAH. Results. Forty-seven patients with pSS were included in the study. The mean age of patients was 48 years and the mean disease duration was 5.3 years. PAH was defined in 11 of the 47 patients (23.4%). The SPAP value was over 35 mm Hg in 5 out of 11 patients, whereas six patients had SPAP measuring 30-35 mm Hg. While pulmonary hypertension was related with earlier age and shorter duration of disease (P=0.04), there was no statistically significant correlation between SPAP increase and clinical findings (P>0.05). Conclusion. We have defined high PAH frequency in patients with pSS. Since there are different data in the literature, it is obvious that large scale, multicentre studies are required. © 2014 Senol Kobak et al.