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Objective: Adherence to insulin therapy is poor in diabetic patients. Insulin pens with many different features have been developed to increase patient satisfaction and compliance to treatment. In our study, we aimed to investigate the usability and acceptance of prefilled or reusable insulin pens.Material and Methods: One hundred and twenty-six patients with a mean age of 55.3±11.1 years were included. Eighty-nine (71%) patients were female. Sixty-three patients were in prefilled pen group. A questionnaire was used to assess patients’ opinions about their use of insulin pens. Glycemic control parameters, demographic characteristics, treatment protocol and microvascular complications were recorded.Results: There was no significant difference between the two groups for age (p=0.3), gender (p=0.1), educational status (p=0.6), duration of diabetes (p=0.8), duration of insulin therapy (p=0.2) and mean insulin dose (p=0.1). Ease of use (p=0.8), ergonomics (p=0.3), ease of dose selection (p=0.6), ease of reading the dose scale (p=0.3) did not significantly differ when two groups were compared. Only the number of patients who found to change the needle as 'moderately difficult' was significantly higher in the prefilled pen group (p=0.04).Conclusion: The applicability of the treatment and patient satisfaction is as important as the treatment given to the patients. However we did not find any important difference between prefilled or reusable pen device in terms of usability and patient satisfaction., Amaç: Diyabet hastalarında insülin tedavisine uyum zayıftır. Hasta memnuniyetini ve tedaviye uyumu artırmak için birçok farklı özelliğe sahip insülin kalemleri geliştirilmiştir. Çalışmamızda, tek kullanımlık veya yeniden kullanılabilir kalem kullanan iki hasta grubunda insülin kalemlerinin kullanılabilirliğini ve hasta memnuniyeti üzerindeki etkisini araştırmayı amaçladık.Gereç ve Yöntemler: Yaş ortalaması 55.3±11.1 yıl olan 126 hasta çalışmaya dahil edildi. Hastaların 89 (%71)’u kadındı. Tek kullanımlık kalem grubunda 63 hasta vardı. İnsülin kalemleri kullanımıyla ilgili hasta görüşlerini değerlendirmek için bir anket kullanıldı. Glisemik kontrol parametreleri, demografik özellikler, tedavi protokolü ve mikrovasküler komplikasyonlar kaydedildi.Bulgular: İki grup arasında yaş (p=0.3), cinsiyet (p=0.1), eğitim durumu (p=0.6), diyabet süresi (p=0.8), insülin tedavisi süresi (p=0.2) ve ortalama insülin dozu (p=0.1) açısından anlamlı fark yoktu. Kullanım kolaylığı (p=0.8), ergonomi (p=0.3), doz seçimi kolaylığı (p=0.6) ve doz skalasını okuma kolaylığı (p=0.3) açısından 2 grup arasında anlamlı farklılık gözlenmedi. Tek kullanımlık kalem grubunda iğne ucu değiştirmeyi “orta derecede zor” olarak değerlendiren hasta sayısı anlamlı olarak daha fazlaydı (p=0.04).Sonuç: Hastalara verilen tedavi kadar tedavinin uygulanabilirliği ve hasta memnuniyeti de önemlidir. Ancak çalışmamızda, kullanılabilirlik ve hasta memnuniyeti açısından tek kullanımlık veya yeniden kullanılabilir kalemler arasında ciddi bir fark bulunmamıştır.

Background/aim: Increased susceptibility to infections is a serious problem in diabetics. Impairment in the energy metabolism of the immune system is the main source of the problem. Early diagnosis of the impairment in energy metabolism is crucial. Our study aimed to investigate the energy metabolism in leukocytes in patient groups such as prediabetics and patients newly diagnosed with type 2 diabetes mellitus. Materials and methods: Our study included 21 newly diagnosed type 2 diabetic patients (NDDP), 30 prediabetic patients, and 22 adult volunteers. 75 g oral glucose tolerance test (OGTT) was applied to all patients included in the study. Blood samples were taken after 9-16 h of fasting and fasting blood glucose (FBG), postprandial blood glucose (PBG) levels, total cholesterol (TC), triglyceride (TG), highdensity lipoprotein (HDL), fasting serum insulin, and hemoglobin A1c (HbA1c) levels were evaluated. After the cells were completely lysed, citrate levels from the released mononuclear leukocyte cells (MNC) content were manually studied, and lactate levels were applied to the autoanalyzer with the lactate kit. Lactate and citrate results were calculated as μg/mL. Statistical comparisons were done using Chi-square test, Mann-Whitney U test and student’s t test, and P < 0.05 values were accepted as significant. Results: A significant difference was found between the controls and the other groups (newly diagnosed diabetic patients (NDDP), impaired fasting glucose (IFG), and impaired glucose tolerance (IGT)) in terms of FBG levels (P < 0.001, P < 0.001 and P < 0.001, respectively). IFG and IGT patients had significantly higher PBG levels compared to the control group (P = 0.009 and P < 0.001, respectively). There was a significant difference between the IFG and IGT patients in terms of insulin levels (P = 0.019). There was a significant relationship between FBG levels and lactate production only in the NDDP group (r = 0.610, P = 0.003) Conclusion: The metabolic effects of hyperglycemia on leukocytes is in direction of anaerobic glycolysis. The increased anaerobic pathway is closely related to blood glucose levels and insulin resistance.

In this paper we present effect of the chaotic crossover operator with different chaotic maps on the metaheuristic search algorithm Breeding Swarms algorithm which is the Particle Swarm Optimization’s one of the genetic algorithm hybrid form. Some of the many optimization problems could have too many local extrema. Most of the time optimization algorithms could stuck on these extrema therefore these algorithms could have trouble with finding global extremum. To avoiding local extrema and conduct better search on search space, a chaotic number generator is used on Breeding Swarms algorithm’s most of the random procedures. To test efficiency and randomness of the chaotic crossover operator, different chaotic maps are used on the Breeding Swarm algorithm. Test and performance evaluations are conducted on Multimodal and unimodal benchmark functions. This new approach showed us that modified Breeding Swarms algorithm yielded slightly better results than Particle Swarm Optimization and original Breeding Swarms algorithms on tested benchmark functions.

MRPS22 gene defect is a very rare newly discovered mitochondrial disorder. We report a 4-month-old severely affected male infant with MRPS22 mutation. Whole exome sequencing revealed a novel homozygous splicing mutation c.339 + 5 G > A in MRPS22 gene. He has mild dysmorphism, hypotonia, developmental delay but not hypertrophic cardiomyopathy and tubulopathy which differ from other majority of reported patients. Therefore, hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22. With this case report, we also present first symmetrical bilateral brainstem and medial thalamic lesions, and cerebellar and cerebral atrophy on a brain MR imaging follow-up of ten months.

To be able to make the classification process, there should be a sufficient number of samples. Collecting a sufficient number of samples, especially for those dealing with medical data, is a laborious task. To obtain the approval of the ethics committee in our country, patient data coming from a certain time interval rather than a sample number can be requested. Therefore, there are difficulties in reaching a sufficient number of samples. In this study, the effect of the clonal selection algorithm which is one of the artificial immune system algorithms on standard classifiers was investigated. The chronic kidney disease dataset from the university of California Irvine machine learning repository was chosen as the dataset. Among the commonly used methods for classification, methods of k nearest neighbor, decision trees and artificial neural networks were selected as classifiers. While k nearest neighbor is a distance-based algorithm, a decision tree is a regression-based method and the artificial neural network which is quite popular nowadays is a nature-inspired method. According to the results of the experiments, it is found that the data reproduction process by using the clonal selection algorithm has increased the performances of the classifiers.

Introduction: Patients with polycystic ovary syndrome (PCOS) are in the risk group for early-onset cardiovascular disease. There are few studies evaluating physiological and inflammatory cardiovascular risk factors in PCOS. Our study aimed to measure carotid intima-media thickness (IMT) in PCOS cases and to assess the effects of metformin, ethinyl estradiol/cyproterone acetate (EE/CA) and metformin + EE/ CA combination therapy on carotid IMT, insulin resistance, C-reactive protein (CRP), apelin and adiponectin. Methods: Basal carotid IMT, insulin resistance [Homeostasis model assessment insulin resistance (HOMA-IR)], apelin, adiponectin, and CRP values were evaluated in 60 women with PCOS and 43 healthy volunteers between the ages of 18 and 45. After baseline evaluation, patients were divided into metformin (n=20), EE/CA (n=20) and metformin + EE/CA (n=20) treatment groups. Treatment regimens were administered for six months. At the end of the treatment, the same parameters were reevaluated. Results: Compared with the control group, CRP (p=0.003), HOMA-IR (p=0.004) and IMT (p=0.049) were significantly higher, and adiponectin (p=0.002) and apelin (p=0.031) levels were significantly lower in patients with PCOS. At the end of the six-month treatment, the adiponectin level in the metformin (p=0.012) and metformin + EE/CA groups (p=0.012), and the apelin level in the metformin (p=0.024), EE/CA (p=0.024) and metformin + EE/CA groups (p=0.024) were significantly higher. There was no statistically significant change in CRP level in all treatment groups (p>0.05). There was no statistically significant change in carotid IMT value in all treatment groups (p>0.05). Conclusion: According to these results, we can say that women with PCOS have subclinical atherosclerosis and that metformin treatment has a positive effect on subclinical atherosclerosis. Amaç: Polikistik over sendromu (PKOS) erken dönemde ortaya çıkan kardiyovasküler hastalık için risk grubundadır. PKOS’de, fizyolojik ve enflamatuvar kardiyovasküler risk faktörlerini değerlendiren az sayıda çalışma vardır. Çalışmamızın amacı, PKOS olgularında karotis intima media kalınlığını (İMK) ve ayrıca metformin, etinil estradiol/siproteron asetat (EE/SA) ve metformin + EE/SA kombinasyon tedavisinin karotis İMK, insülin direnci, C-reaktif protein (CRP), apelin ve adiponektin üzerine etkilerini değerlendirmektir. Yöntemler: Çalışmamıza katılan 18-45 yaş arasındaki 60 PKOS’li kadında ve 43 sağlıklı gönüllü kadında bazal karotis İMK, insülin direnci [Homeostasis model assessment insulin resistance (HOMA-IR)], apelin, adiponektin ve CRP değerlendirmeleri yapıldı. Bazal değerlendirmeden sonra, hastalar metformin (n=20), EE/SA (n=20) ve metformin + EE/SA (n=20) tedavi gruplarına ayrıldı. Tedavi rejimleri 6 ay boyunca uygulandı. Tedavi sonunda aynı parametreler tekrar değerlendirildi. Bulgular: Kontrol grubuyla karşılaştırıldığında PKOS’li olguların CRP (p=0,003), HOMA-IR (p=0,004), İMK (p=0,049) değerleri istatistiksel olarak anlamlı derecede daha yüksek, adiponektin (p=0,002), apelin (p=0,031) düzeyleri kontrol grubundan istatistiksel olarak daha düşük saptandı. Altı aylık tedavinin sonunda adiponektin seviyesi metformin (p=0,012) ve metformin + EE/SA grubunda (p=0,012), apelin seviyesi ise metformin grubu (p=0,024), EE/SA grubu (p=0,024), ve metformin + EE/SA grubunda (p=0,024) anlamlı olarak yüksek saptandı. Üç tedavi grubunda da CRP seviyesinde istatistiksel olarak anlamlı değişim yoktu (p>0,05). Üç tedavi grubunda da karotis İMK değerinde istatistiksel olarak anlamlı değişim yoktu (p>0,05). Sonuç: Bu sonuçlara göre PKOS’de subklinik aterosklerozun varlığını ve metformin tedavisinin subklinik ateroskleroz üzerine olumlu etki gösterdiğini söyleyebiliriz.

Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum. Recently, it was shown that mutations in the ARID1B gene are the main cause of CSS, accounting for 76% of identified mutations. Here, we report a 15 year-old female patient who was admitted to our clinic with seizures, speech problems, dysmorphic features, bilaterally big, large thumb, cafe-au-lait (CAL) spots, obesity and hyperinsulinism. First, the patient was thought to have an association of neurofibromatosis and Rubinstein Taybi syndrome. Because of the large size of the NF1 gene for neurofibromatosis and CREBBP gene for Rubinstein Taybi syndrome, whole exome sequence analysis (WES) was conducted and a novel ARID1B mutation was identified. The proband WES test identified a novel heterozygous frameshift mutation c.3394_3395insTA in exon 13 of ARID1B (NM_017519.2) predicting a premature stop codon p.(Tyr1132Leufs*67). Sanger sequencing confirmed the heterozygous c.3394_3395insTA mutation in the proband and that it was not present in her parents indicating de novo mutation. Further investigation and new cases will help to understand this phenomenon better.

Objective We aimed to compare the plasma pantoprazole level (PPL) between patients with type 2 diabetes mellitus and non-diabetic patients during Helicobacter pylori (H. pylori) eradication treatment and to explore the role of PPL in predicting the treatment success rates. Methods This study included 40 diabetic and 40 non-diabetic treatment-naive H. pylori-infected patients. Bismuth-based standard quadruple treatment for H. pylori eradication was used for 14 days in both groups. PPL was measured using the square-wave voltammetry method. Results H. pylori eradication rate (60.0% vs 87.5%, P = 0.005) and PPL (0.25 ± 0.03 μg/mL vs 0.34 ± 0.03 μg/mL, P < 0.001) was significantly lower in the diabetic group compared with the controls. Patients with treatment failure had lower PPL than those with successful treatment (P

WOS: 000432704800022 Klinefelter syndrome (KS) is the most common chromosomal disorder in men characterized by clinical features of hypogonadism and infertility. About 90% of cases have classically 47, XXY karyotype and the remaining have additional X or Y chromosomes, high grade aneuploidies or X chromosome structural abnormalities. Portal vein aneurysms are very rare. Reported cases are increasing due to use of modern imaging techniques in clinic practise. Here we report a 19-year-old man with KS who was admitted with complaints of abdominal pain, nausea and vomiting. Further investigations revealed 23 mm anechoic, saccular expansion in the left branch of the portal vein. It is well known that KS is associated with venous thromboembolic diseases including portal venous thrombosis, but association with portal vein aneurysm has not been previously reported. Klinefelter sendromu (KS), hipogonadizm ve infertilite ile karakterize, erkeklerde en yaygın görülen kromozomal bozukluktur. Olguların yaklaşık % 90'ında klasik 47,XXY karyotipi, geri kalanlarında ise ek X veya Y kromozomu, yüksek dereceli anöploidler veya X kromozomu yapısal anomalileri bulunmaktadır. Portal ven anevrizmaları çok nadirdir. Klinik pratikte modern görüntüleme tekniklerinin kullanımı ile birlikte, bildirilen vaka sayıları artmaktadır. Burada karın ağrısı, bulantı ve kusma şikayetleri ile başvuran 19 yaşındaki KS'li bir erkek hasta sunmaktayız. Yapılan incelemelerde; portal venin sol dalında 23 mm'lik, anekoik, sakküler genişleme saptanmıştır. KS'nin portal ven trombozu da dahil olmak üzere venöz tromboembolik hastalıklarla ilişkili olduğu iyi bilinmektedir; ancak portal ven anevrizması ile ilişkisi daha önce bildirilmemiştir.

WOS: 000417410900008 Acromegaly is caused by the uncontrolled hypersecretion of growth hormone (GH) and secondary increases of insulin-like growth factor-1. More than 95% of patients with acromegaly have a growth hormone-secreting pituitary adenoma. Ectopic GH or growth hormone releasing hormone (GHRH)-secreting tumors are rare cause of acromegaly. Pituitary adenomas that cause the hypersecretion of GH are nearly always visible on magnetic resonance imaging. Rarely, patients without an ectopic source may have normal pituitary imaging. In managing this rare circumstance, exploring pituitary or medical treatment with a somatostatin analog might be useful. We describe a patient with acromegaly with no pituitary adenoma and no evidence of ectopic source, who was treated with long-acting octreotide.

Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual impairment, and premature death. Based on the country of origin of the patients, the clinical features/courses, and the molecular genetics background of the disorder, 14 distinct NCL subtypes have been described to date. CLN8 mutation was first identified in Finnish patients, and the condition was named Northern Epilepsy (NE); however, the severe phenotype of the CLN8 gene was subsequently found outside Finland and named 'variant late-infantile' NCL. In this study, five patients and their six healthy relatives from a large Turkish consanguineous family were enrolled. The study involved detailed clinical, radiological and molecular genetic evaluations. Whole-exome sequencing and homozygosity mapping revealed a novel homozygous CLN8 mutation, c.677T>C (p.Leu226Pro). We defined NE cases in Turkey, caused by a novel mutation in CLN8. WES can be an important diagnostic method in rare cases with atypical courses.

This study aimed to identify PYGM mutations in patients with McArdle disease from Turkey by next generation sequencing (NGS). Genomic DNA was extracted from the blood of the McArdle patients (n = 67) and unrelated healthy volunteers (n = 53). The PYGM gene was sequenced with NGS and the observed mutations were validated by direct Sanger sequencing. A diagnostic algorithm was developed for patients with suspected McArdle disease. A total of 16 deleterious PYGM mutations were identified, of which 5 were novel, including 1 splice-site donor, 1 frame-shift, and 3 non-synonymous variants. The p.Met1Val (27-patients/11-families) was the most common PYGM mutation, followed by p.Arg576* (6/4), c.1827+7A>G (5/4), c.772+2_3delTG (5/3), p.Phe710del (4/2), p.Lys754Asnfs (2/1), and p.Arg50* (1/1). A molecular diagnostic flowchart is proposed for the McArdle patients in Turkey, covering the 6 most common PYGM mutations found in Turkey as well as the most common mutation in Europe. The diagnostic algorithm may alleviate the need for muscle biopsies in 77.6% of future patients. A prevalence of any of the mutations to a geographical region in Turkey was not identified. Furthermore, the NGS approach to sequence the entire PYGM gene was successful in detecting a common missense mutation and discovering novel mutations in this population study. (C) 2017 Elsevier B.V. All rights reserved.

Background: Diabetic nephropathy (DN) is a leading cause of diabetes-related morbidity and mortality. The aim of this study was to evaluate the relationship of AGT M235T and apoprotein E (APO E) gene polymorphism with DN in Turkish patients of Type 2 diabetes, and to compare genotype and allele distributions among DN patients, non-DN patients, and healthy controls. Methods: AGT M235T and APO E genotype and allele analysis were performed in 111 DN patients, 108 non-DN patients, 106 healthy control subjects for APO E genotype, and 100 for AGT M235T genotype polymorphism. APO E and AGT M235T genotype were determined by RFLP-PCR. Results: The frequencies of APO E epsilon 2/3, epsilon 3/3, epsilon 3/4 genotypes were 22.7%, 60%, 60%, respectively, among DN patients and 6.6%, 80%, 10.4%, respectively (p < 0.001), in the non-DN patients. The frequencies of AGT M235T MM, MT, TT genotypes among the same groups were 17%, 46%, 37% and 21%, 63%, 16%, respectively (p < 0.02). Having the epsilon 2/3 genotype and TT genotype increased the risk for DN nephropathy [4.8-fold (95% Cl: 1.94-11.67), 2.9-fold (95% Cl: 1.27-6.69), respectively]. Conclusion: Our study has shown that AGT M235T TT genotype and APO E epsilon 2/3 genotype may be linked to a risk for DN among Turkish population.