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Öğe Alpha-Galactosidase A Activity Levels in Turkish Male Hemodialysis Patients(Wiley, 2012) Ucar, Sema Kalkan; Sozmen, Eser; Duman, Soner; Basci, Ali; Coker, MahmutFabry disease is an X-linked lysosomal storage disorder due to deficient activity of alpha-galactosidase A (alpha-Gal A) leading to renal insufficiency in males. The aim of present study was to investigate the level of alpha-Gal A activity and to determine the prevalence of Fabry disease in a Turkish male hemodialysis population. The activity of plasma alpha-Gal A was measured in a group of 808 male hemodialysis patients using fluorimetric methods. Patients with low alpha-Gal A activity were evaluated clinically and genetic testing was carried out. A correlation with creatinine, uric acid, urea, white blood cell (WBC), and high sensitivity (hs)CRP and alpha-Gal A activity was also investigated. Plasma a-Gal A activity among this male population undergoing hemodialysis was 7.88 +/- 5.18 mu M/hour/L (0.4055.72), significantly lower when compared to controls. No influence of creatinine, uric acid, WBC, or hsCRP on measured alpha-Gal A activity was reported. Two new Fabry disease patients were identified. Both were previously diagnosed with diabetes mellitus type 2. These findings provide, for the first time, data regarding the prevalence of alpha-Gal A deficiency (0.24%) in Turkish males receiving hemodialysis.Öğe Assessing Anticancer Potential of Blueberry Flavonoids, Quercetin, Kaempferol, and Gentisic Acid, Through Oxidative Stress and Apoptosis Parameters on HCT-116 Cells(Mary Ann Liebert, Inc, 2019) Sezer, Ebru Demirel; Oktay, Latife Merve; Karadadas, Elif; Memmedov, Hikmet; Gune, Nur Selvi; Sozmen, EserIn recent years, natural products gained popularity with their anti-inflammatory and antioxidant effects mediated by chemical compounds within their composition. Study results offering them as palliative therapy options in cancer or as anticancer agents with high levels of cytotoxicity brought a new approach to combine cancer treatment protocols with these products. From a different perspective, edible types of these products are suggested in daily diets due to their potential cancer preventive effects. Our preliminary work was on blueberry extracts (Vaccinium myrtillus) as a main representative of these natural products, and the contents of the extracts were analyzed with liquid chromatography tandem mass spectrometry (LC MS/MS) to reveal the composition and distribution of polyphenolic compounds within. The most abundant polyphenols detected in V. myrtillus extracts were quercetin, kaempferol, and a phenolic acid, gentisic acid (GA). The compounds were further evaluated on treated HCT-116 cells for their potential anticancer effects by measuring total antioxidant status, total oxidant status, and 8-hydroxydeoxyguanosine levels for evaluation of oxidative stress and through protein array analysis and flow cytometric analysis for evaluation of apoptosis. In analysis of oxidative stress parameters, reduced total oxidant levels and reduced oxidative stress index levels were found in cells treated with the compounds in comparison with untreated cells. In apoptosis-related protein profiles, at least twofold reduction in various apoptotic proteins was observed after quercetin and kaempferol treatment, whereas a different profile was observed for GA. Overall, results of this study showed that quercetin and kaempferol have strong cytotoxic, antioxidant, and apoptotic effects, although GA is mostly effective as an antioxidant polyphenol on HCT-116 cells.Öğe Can urinary biomarkers predict acute kidney injury in newborns with critical congenital(Tubitak Scientific & Technical Research Council Turkey, 2021) Uygur, Ozgun; Koroglu, Ozge Altun; Levent, Erturk; Sozmen, Eser; Ergin, Firat; Atay, Yuksel; Kultursay, NilgunBackground/aim: Congenital heart disease (CHD) is the most common congenital malformation group and is the leading cause of newborn mortality in developed countries. Most of the infants with CHD develop preoperative or postoperative acute kidney injury (AKI). Acute kidney injury may develop before the serum creatinine rise and oliguria. Urinary biomarkers such as kidney injury molecule-1 (KIM-1), neutrophil gelatinase-associated lipocalin (NGAL), interleukin (IL)-18, and cystatin C may predict AKI in patients with critical CHD (CCHD) before the serum creatinine rise. in this study, we aimed to determine the AKI incidence among newborn patients with CCHD and investigate the predictivity of urinary biomarkers for AKI. Materials and methods: Newborns with a gestational age >34 weeks and birth weight >1500 g with a diagnosis of CCHD were enrolled in the study. Blood and urine samples were collected at birth, during the first 24-48 h, and in the preoperative and postoperative periods. Results: A total of 53 CCHD patients requiring surgery during the neonatal period were enrolled in the study. The 24-48 h KIM-1 levels of the cases with exitus were higher (P = 0.007). The 24-48 h cystatin C and preoperative NGAL levels were higher in patients with postoperative AKI (P = 0.02). Conclusion: in newborns with CCHD, high KIM-1 levels may predict mortality, whereas high cystatin C and preoperative NGAL levels may be indicative of AKI. These biomarkers deserve further investigation in larger study populations.Öğe Chitotriosidase enzyme activity: is this a possible chronic inflammation marker in children with common variable immunodeficiency and early atherosclerosis?(Sage Publications Inc, 2017) Azarsiz, Elif; Karaca, Neslihan; Levent, Erturk; Kutukculer, Necil; Sozmen, EserBackground Common variable immunodeficiency is a rare clinically symptomatic primary immunodeficiency disorder which manifests a wide variability of symptoms, complications. Atherosclerosis in common variable immunodeficiency patients has not been investigated yet contrary to other severe clinical complications. We aimed to investigate the chitotriosidase enzyme's role as an inflammation and atherosclerosis marker in paediatric common variable immunodeficiency patients. Methods Common variable immunodeficiency patients (n=24) and healthy controls (n=23) evaluated for chitotriosidase activity with other inflammation markers (hsCRP, myeloperoxidase, serum amyloid A, ferritin), lipid profile and echocardiographic findings (carotid artery intima media thickness - cIMT, brachial artery flow-mediated vazodilatation - FMD%). Results In patients, the mean chitotriosidase activity (8.986.28) was significantly higher than the controls (5.17 +/- 3.42) (P=0.014). Chitotriosidase showed positive relation with hs-CRP (P=0.011) and SAA (P=0.011) but had no relation with ferritin (P=0.155), HDL (P=0.152) or LDL-cholesterol (P=0.380). Mean cIMT increased in patients compared with the controls (P<0.001) but did not show any relation with chitotriosidase (P=0.546). FMD% decreased in patients (P<0.001) also showing no relation with chitotriosidase (P=0.298). Ventricular myocardial performance indexes had no significant difference, but RVEF% decreased in patients (P=0.043). Conclusions High chitotriosidase activity in common variable immunodeficiency patients demonstrated in vivo the presence of activated macrophages indicating ongoing inflammation. Echocardiographic diastolic functional deficiency, increased cIMT and decreased FMD% may be accepted as early atherosclerotic findings, but none of them showed relationship with chitotriosidase activities.Öğe Clinical Experiments in Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)(Galenos Yayincilik, 2016) Er, Esra; Canda, Ebru; Ucar, Sema Kalkan; Sozmen, Eser; Coker, MahmutAim: Mucopolysaccharidosis (MPS) type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity vary. We evaluated clinical, laboratory and follow-up findings of 11 patients diagnosed with MPS type VI between the years 1996-2016 by the Ege University Faculty of Medicine, Department of Pediatrics, Child Health and Disease, Division of Metabolism and Nutrition to raise awareness in clinicians. Materials and Methods: Eleven patients with MPS type VI between the years1996-2016 were evaluated by the Ege University Faculty of Medicine, Department of Pediatrics, Child Health and Disease Division of Metabolism and Nutrition. We analyzed the diagnostic, clinical, laboratory and follow-up findings of the patients. Results: Eleven patients (55% male) were evaluated. The mean age was 5.38 years at diagnosis. The most common presenting symptoms were progressive coarsening of the face (82%), reccurent upper respiratory tract disorders (27%) and bone deformities (27%). All patients had mitral regurgitation, 27% had aortic regurgitation, 9% had tricuspid regurgitation and only one patient had pulmonary hypertension. Two patients, who could not be treated, had severe cardiac and obstructive type pulmonary disorders. Enzyme replacement therapy (galsulfase) has been performed in various durations since 2006. Conclusion: Early diagnosis of MPS VI is imperative due to the availability of galsulfase shown to slow the progression of the disease with a more significant impact on clinical outcomes when the the treatment is initiated early.Öğe Clinical value of a set of neuropeptides in term and preterm neonates with seizures: Brain derived neurotrophic factor, galanin and neuropeptide Y(Elsevier Sci Ltd, 2020) Tanriverdi, Mahir; Kultursay, Nilgun; Tekgul, Hasan; Sozmen, Eser; Koroglu, Ozge Altun; Aktan, Gul; Yalaz, MehmetThe aim of our study to investigate clinical value of a set of neuropeptides (brain derived neurotrophic factor-BDNF, galanin and neuropeptide Y-NPY) in critically ill neonates. A total of 53 neonates (preterm: 26, term: 27) evaluated with lumbar pucture for etiologic evaluation were consequtively included into the study. Serum and CSF levels of the neuropeptides were measured in the first 48 h of life. All infants were prospectively followed for prognostic outcome (survival and neurodevelopmental) at the first year of life. the study cohort was categorized into four groups with respect to seizure development; preterm neonates with or without seizure and term neonates with or without seizure. Mean CSF levels of NPY (pg/ml) were significantly higher in term neonates with than those without seizures (389.76 vs. 122.66) and galanin (3.31 vs. 1.55) respectively. Term neonates with seizures had significantly higher serum levels of NPY (ng/mL) as compared with neonates without seizures (54.00 vs. 9.10). No significant difference was noted in serum and CSF levels for the set of neuropeptides in neonates with respect to prognostic outcome. Serum NPY and CSF NPY and galanin levels have a potential role for detection of clinical seizures in term neonates. (C) 2020 Elsevier Ltd. All rights reserved.Öğe Contents of Breast Milk Obtained from Mothers of Preterm and Term Newborn Infants(Galenos Yayincilik, 2015) Terek, Demet; Koroglu, Ozge Altun; Sozmen, Eser; Yalaz, Mehmet; Kultursay, NilgunAim: We aimed to compare the macronutrient, antioxidant, insulin like growth factor 1 content of breast milk obtained from mothers of moderately premature and full-term infants. Materials and Methods: In this prospective study mature breast milk samples were collected and frozen from mothers of moderately premature (n=31, gestational age 32.16 +/- 2.42 weeks) and full term (n=14) infants who were admitted to the neonatal intensive care unit. Frozen milk samples were thawed and macroonutrients (triglycerides, glucose, cholesterol, protein), antioxidants (TEAC: Trolox equivalent antioxidant capacity, FRAP: ferric reducing ability of plasma, TOA: total antioxidant activity), TBARS (ThioBarbituric Acid Reactive Substances) and insulin like growth factor 1 (IGF-1) levels were analysed. Results: Macronutrient content, antioxidant properties, oxidative status and IGF-1 content of preterm and term breast milk were found similar. None of these parameters were related to necrotizing enterocolitis or achievement of total enteral feeds. Conclusion: The donor milk obtained from mothers of term infants may be safely used for the moderately preterm infants cared in NICUs since both groups have similar breast milk properties.Öğe Cord blood and consecutive chitotriosidase activity: Relationship to prematurity and early prognosis(Wiley-Blackwell, 2015) Gunes, Sezgin; Yalaz, Mehmet; Sozmen, Eser; Altun Koroglu, Ozge; Kultursay, NilgunBackgroundThe aim of this study was to investigate the relationship between plasma chitotriosidase activity, an inflammatory protein secreted mainly from macrophages, and neonatal morbidity and mortality in premature infants. MethodsCord blood chitotriosidase activity was studied in healthy control infants (53 term, group 1; 26 late preterm [33-37gestational weeks], group 2) and 35 preterm infants (32weeks; group 3). In group 3, consecutive samples at 3h, 24h, 72h, 7days, 14days, and 36weeks after conception were also analyzed. Group 3 was also evaluated for mortality, respiratory treatment and bronchopulmonary dysplasia (BPD), patent ductus arteriosus (PDA), intraventricular hemorrhage (IVH) and retinopathy of prematurity (ROP) and necrotizing enterocolitis (NEC). ResultsCord blood chitotriosidase activity was positively correlated with gestational age and birthweight. SNAPPE-II score was correlated with chitotriosidase activity at 24h. Consecutive chitotriosidase activity for group 3 was non-significantly higher in infants who died in the early neonatal period. Higher chitotriosidase activity was observed in mechanically ventilated infants than infants treated with non-invasive assisted ventilation. BPD, PDA, IVH and ROP, but not NEC, were related to higher chitotriosidase activity, being significant at some of the time points. ConclusionNeonatal stress such as invasive ventilation may create a risk for the development of BPD, PDA, IVH, and ROP by increasing macrophage activation in preterm infants as reflected in the higher chitotriosidase activity. High chitotriosidase activity may also be associated with disease severity and mortality.Öğe Cord blood and consecutive chitotriosidase activity: Relationship to prematurity and early prognosis(Wiley-Blackwell, 2015) Gunes, Sezgin; Yalaz, Mehmet; Sozmen, Eser; Altun Koroglu, Ozge; Kultursay, NilgunBackgroundThe aim of this study was to investigate the relationship between plasma chitotriosidase activity, an inflammatory protein secreted mainly from macrophages, and neonatal morbidity and mortality in premature infants. MethodsCord blood chitotriosidase activity was studied in healthy control infants (53 term, group 1; 26 late preterm [33-37gestational weeks], group 2) and 35 preterm infants (32weeks; group 3). In group 3, consecutive samples at 3h, 24h, 72h, 7days, 14days, and 36weeks after conception were also analyzed. Group 3 was also evaluated for mortality, respiratory treatment and bronchopulmonary dysplasia (BPD), patent ductus arteriosus (PDA), intraventricular hemorrhage (IVH) and retinopathy of prematurity (ROP) and necrotizing enterocolitis (NEC). ResultsCord blood chitotriosidase activity was positively correlated with gestational age and birthweight. SNAPPE-II score was correlated with chitotriosidase activity at 24h. Consecutive chitotriosidase activity for group 3 was non-significantly higher in infants who died in the early neonatal period. Higher chitotriosidase activity was observed in mechanically ventilated infants than infants treated with non-invasive assisted ventilation. BPD, PDA, IVH and ROP, but not NEC, were related to higher chitotriosidase activity, being significant at some of the time points. ConclusionNeonatal stress such as invasive ventilation may create a risk for the development of BPD, PDA, IVH, and ROP by increasing macrophage activation in preterm infants as reflected in the higher chitotriosidase activity. High chitotriosidase activity may also be associated with disease severity and mortality.Öğe Cord blood and consecutive chitotriosidase activity: Relationship to prematurity and early prognosis(Wiley-Blackwell, 2015) Gunes, Sezgin; Yalaz, Mehmet; Sozmen, Eser; Altun Koroglu, Ozge; Kultursay, NilgunBackgroundThe aim of this study was to investigate the relationship between plasma chitotriosidase activity, an inflammatory protein secreted mainly from macrophages, and neonatal morbidity and mortality in premature infants. MethodsCord blood chitotriosidase activity was studied in healthy control infants (53 term, group 1; 26 late preterm [33-37gestational weeks], group 2) and 35 preterm infants (32weeks; group 3). In group 3, consecutive samples at 3h, 24h, 72h, 7days, 14days, and 36weeks after conception were also analyzed. Group 3 was also evaluated for mortality, respiratory treatment and bronchopulmonary dysplasia (BPD), patent ductus arteriosus (PDA), intraventricular hemorrhage (IVH) and retinopathy of prematurity (ROP) and necrotizing enterocolitis (NEC). ResultsCord blood chitotriosidase activity was positively correlated with gestational age and birthweight. SNAPPE-II score was correlated with chitotriosidase activity at 24h. Consecutive chitotriosidase activity for group 3 was non-significantly higher in infants who died in the early neonatal period. Higher chitotriosidase activity was observed in mechanically ventilated infants than infants treated with non-invasive assisted ventilation. BPD, PDA, IVH and ROP, but not NEC, were related to higher chitotriosidase activity, being significant at some of the time points. ConclusionNeonatal stress such as invasive ventilation may create a risk for the development of BPD, PDA, IVH, and ROP by increasing macrophage activation in preterm infants as reflected in the higher chitotriosidase activity. High chitotriosidase activity may also be associated with disease severity and mortality.Öğe The Effect of Foot Reflexology Applied Before Coronary Angiography and Percutaneous Transluminal Coronary Angioplasty on Anxiety, Stress, and Cortisol Levels of Individuals A Randomized Controlled Trial(Lippincott Williams & Wilkins, 2021) Dogru, Birgul Vural; SenuzunAykar, Fisun; Yildirim, Yasemin; Yavuzgil, Oguz; Sozmen, Eser; Memmedov, HikmetBackground Coronary angiography and percutaneous transluminal coronary angioplasty procedures cause anxiety and stress in individuals. Objective The aim of this study was to determine the effect of foot reflexology applied before coronary angiography and percutaneous transluminal coronary angioplasty on the anxiety, stress, and cortisol levels of individuals. Methods A simple randomized trial design was used. The patients who met the inclusion criteria were divided into 4 groups including experimental and control groups of coronary angiography patients (30 patients in each group) and percutaneous transluminal coronary angioplasty (26 patients in each group) by randomization method. Data were collected with the State-Trait Anxiety Inventory and Distress Thermometer 90 minutes before coronary angiography and percutaneous transluminal coronary angioplasty and the laboratory samples were taken. After these procedures, foot reflexology was applied to both feet of the patients in the experimental group for 30 minutes, and the control group received only standard care. The inventories were reapplied 30 minutes after the reflexology application and after coronary angiography and percutaneous transluminal coronary angioplasty. Results Whereas there was no statistically significant difference (P > .05) between the coronary angiography and percutaneous transluminal coronary angioplasty experimental and control groups in Anxiety Inventory and stress median scores before reflexology, a significant difference was found (P < .001) 30 minutes after reflexology application and after coronary angiography and percutaneous transluminal coronary angioplasty. After the reflexology, anxiety and stress scores were significantly lower in the experimental group compared with the control group (P < .001). Whereas there was a significant difference (P < .001) in the within-group cortisol values of both reflexology groups, no significant difference was found in the control groups (P > .05). Conclusions The application of reflexology before coronary angiography and percutaneous transluminal coronary angioplasty reduces the levels of anxiety, stress, and cortisol without any side effects.Öğe The Effect of Melatonin on a Dorsal Skin Flap Model(Taylor & Francis Inc, 2014) Kerem, Hakan; Akdemir, Ovunc; Ates, Utku; Uyanikgil, Yigit; Sezer, Ebru Demirel; Bilkay, Ufuk; Turgut, Mehmet; Sozmen, Eser; Songur, EcmelBackground: Melatonin (Mel) has a very potent antioxidant activity, depending mainly on its capacity to act as an electron donor. Recently, the antioxidant property of Mel has been much emphasized. In this study, the dorsal skin flap model was used to investigate the effect of Mel in flap viability in rats. Material and Methods: Totally 28 Wistar Albino rats were divided into four groups: control group (C) (n = 7), local treatment group (L) (n = 7), systemic low-dose melatonin treatment group (LT) (n = 7), and systemic high-dose melatonin treatment group (HT) (n = 7). The necrosis rate of the skin flaps was observed seven days after the operation by a blinded observer. Oxidative stress was assessed by determining malondialdehyde (MDA) level, and effects of melatonin on antioxidant enzymes such as superoxide dismutase (SOD) and catalase (CAT) were measured. Vascularity, epithelial thickness, and fibroblast proliferation of dorsal skin flaps were assessed histologically. Results: Amount of MDA were found significantly lower (p < .05), and the flap viability, CAT, SOD, vascularity, fibroblast proliferation, and epithelial thickness were found significantly higher (p < .05) in groups HT than in groups C, L, and LT statistically. Conclusion: Our results showed that the usage on different doses of melatonin could play an important role in the process of flap viability and further studies will focus on these areas of interest.Öğe Evaluation of Postprandial Total Antioxidant Activity in Normal and Overweight Individuals(Derman Medical Publ, 2017) Arslan, Fatma Demet; Koseoglu, Mehmet; Atay, Aysenur; Yigit, Yavuz; Akcay, Yasemin; Sozmen, EserAim: Postprandial changes acutely alter some mechanisms in body. There are many studies showing blood oxidative status changes after food intake and supplementation. The aim of the present study was to evaluate the effects of a standardized meal on serum total antioxidant activity (TAA) in normal weight and overweight individuals. Material and Method: Fourteen normal weight and twelve overweight individuals were given a standardized meal in the morning after an overnight fast. Serum TAA, glucose, total cholesterol, HDL cholesterol, LDL cholesterol and triglyceride concentrations were measured at baseline, 3rd hour and 6th hour after the meal in both groups. Results: In both normal and overweight groups, the difference between baseline and 3rd hour was significant for TAA. The TAA of the overweight group was also significantly lower than the TAA of the normal weight group at 3rd hour. However, there was no significant correlation between lipid parameters and TAA levels. Discussion: The present study shows that postprandial oxidative stress occurs more prominently in overweight individuals than in normal weight individuals. Postprandial changes acutely induce oxidative stress and impair the natural antioxidant defense mechanism. It should be noted that consuming foods with antioxidants in order to avoid various diseases and complications is useful, particularly in obese subjects.Öğe An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis(Galenos Yayincilik, 2018) Er, Esra; Canda, Ebru; Yazici, Havva; Eraslan, Cenk; Sozmen, Eser; Ucar, Sema Kalkan; Coker, MahmutAim: The purpose of our study is to submit the demographic, phenotypic and age at diagnosis characteristics of children with GM2 gangliosidosis. Materials and Methods: Patients with GM2 gangliosidosis who were referred to Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Nutrition and Metabolism between January 2004 and December 2016, were included in this study. Diagnosis was confirmed by determimng the level of serum beta-hexosaminidase activity and genetic mutation analysis. The demographic and clinical features are reported for 8 patients with Tay-Sachs disease (TSD) and 6 with Sandhoff disease. Results: The mean age at diagnosis was 18.2 months (range 4-48 months) and 14.5 months (range 8-36 months) for patients with TSD or Sandhoff disease respectively. The initial and main complaint in 100% of the patients were neurological disorders, such as developmental delay, developmental regression or both; seizures and macrocephaly. None of the patients exhibited evidence of organomegaly. Cranial magnetic resonance imaging results were normal in 38% of the cases, 55% of the cases had bilateral thalami involvement presenting as T2 hyperintensity especially at the posterior thalami and 9% of cases had myelination delay. Conclusion: GM2 gangliosidosis disease should be considered for children with developmental regression and/or delay. To prevent a delay in diagnosis, beta-hexosaminidase activity in serum and genetic mutation analysis should be undertaken in suspected cases. Curative gene therapy may be available in the future.Öğe Fabry disease: An overlooked diagnosis in adult cardiac patients(Turkish Soc Cardiology, 2017) Kayikcioglu, Meral; Simsek, Evrim; Ucar, Sema Kalkan; Bayraktaroglu, Selen; Onay, Huseyin; Sozmen, Eser; Coker, MahmutFabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. A deficiency of the enzyme alpha-galactosidase results in intracellular accumulation of globotriaosylceramide in multiple cell types, such as those of the nerves, kidneys, cardiac, and cutaneous tissues, leading to a multisystem disease. Male patients are more severely affected; however, heterozygous female patients may also be afflicted, though often the symptoms develop later. Cardiac involvement can include left ventricular hypertrophy, conduction abnormalities, arrhythmias, valvular abnormalities, and heart failure. A variant of the disease affects only cardiac tissue and mostly manifests as unexplained ventricular hypertrophy. Presently 2 cases of Fabry disease and the signs and symptoms of cardiac involvement, and the importance of early diagnosis to start enzyme replacement therapy before the development of irreversible tissue damage will be discussed.Öğe Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience(Galenos Yayincilik, 2018) Canda, Ebru; Yazici, Havva; Er, Esra; Ucar, Sema Kalkan; Onay, Huseyin; Sozmen, Eser; Özkınay, Ferda; Coker, MahmutAim: Niemann-Pick disease (NPD) is a lysosomal storage disease caused by an insufficient activity of acid sphingomyelinase (ASM) resulting in the accumulation of sphingomyelin. Type A is an infantile neurovisceral fatal form characterized by hepatosplenomegaly and rapidly progressive neurological deterioration, while the Type B non-neuronopathic disease presents visceral form and sufferers usually survive into adulthood. Materials and Methods: Here we present clinical and molecular findings for 19 patients with NPO A/B. Results: Nineteen patients with ASM deficiency were enrolled in our study. Nine of them were female and ten patients were male. The median age of the patients was 7.5 years (minimum-maximum: 1-57 years), the median age at diagnosis was 3 years (minimum-maximum: 6 months-56 years). The median length of the follow up period was 4.07 +/- 3.8 years (range: 1 month-14years). Eighteen patients had hepatosplenomegaly, one patient had splenomegaly. Pulmonary involvement was detected in 10 patients. Six patients died during follow up. Conclusion: Patients with Niemann Pick A/B have a high mortality and morbidity rate. There is a need for a safe and effective therapy for patients with NPD A/B to reduce splenomegaly, to improve liver and respiratory function and to reduce the rate of mortality and morbidity.Öğe Lipoprotein-associated phospholipase A(2): a new marker to determine cardiovascular risk in hypercholesterolemic dyslipidaemic children(Sage Publications Inc, 2017) Ongen, Belkiz; Ucar, Sema Kalkan; Levent, Erturk; Azarsiz, Elif; Kologlu, Turan; Coker, Mahmut; Sozmen, Eser; Sagin, Ferhan G.Background Inflammation and hypercholesterolaemia contribute to atherosclerotic changes which can start in childhood. Children with hyperlipidaemias are at high risk for early coronary atherosclerosis. This study evaluates the relationship between lipoprotein-associated phospholipase A(2) (Lp-PLA(2)), carotid intima-media thickness (CIMT) and flow-mediated dilatation in hypercholesterolaemic dyslipidaemic children. Methods We performed a case-control study consisting of 43 cases, aged 2 to 17 years, and 24 age-matched controls. Fasting blood samples were obtained from both groups for the measurement of a lipid profile (total cholesterol, LDL-C, HDL-C and triglycerides) and Lp-PLA(2) in mass units. The latter was determined with a turbidimetric immunoassay method (PlacTest, DiaDexus Inc.) applied to an automated analyser. CIMT and flow-mediated dilatation measurements were undertaken by a paediatric cardiologist, using high-resolution B-mode ultrasonography. Results Total cholesterol, LDL-C and Lp-PLA(2) concentrations were significantly higher in the cases than in the controls (p<0.001 for all three parameters). While CIMT values were also significantly higher in the patients compared to the controls (P=0.001), flow-mediated dilatation values were significantly lower (P=0.001). We found positive correlations between Lp-PLA(2) and total cholesterol (r=0.41, P=0.001), Lp-PLA(2) and LDL-C (r=0.36, P=0.004), Lp-PLA(2) and CIMT (r=0.44, P=0.019) and LDL-C and CIMT (r=0.41, P=0.032); there were negative correlations between Lp-PLA(2) and flow-mediated dilatation (r=-0.15, P=0.045), total cholesterol and flow-mediated dilatation (r=-0.45, P=0.017), LDL-C and flow-mediated dilatation (r=-0.51, P=0.006) and CIMT and flow-mediated dilatation (r=-0.45, P=0.016). Conclusion Lp-PLA(2) concentrations are significantly elevated in hypercholesterolaemic dyslipidaemic children. Given the association of Lp-PLA(2) with markers of atherosclerosis (total cholesterol, LDL-C, CIMT and flow-mediated dilatation), the finding of increased concentrations of Lp-PLA(2) could be used to identify early atherosclerotic changes in hypercholesterolaemic dyslipidaemic children and may inform their clinical management.Öğe Nebivolol as a prophylactic agent against contrast-induced nephropathy in rats(Oxford Univ Press, 2007) Toprak, Omer; Cirit, Mustafa; Tanrisev, Mehmet; Uzum, Atilla; Yazici, Cevat; Canoz, Ozlem; Sipahioglu, Murat; Ersoy, Rifki; Sozmen, EserÖğe A Randomised 1 Year Study Evaluating the Impact of Vitamin C Supplementation on Systemic Iron Parameters of Iron Overload in Thalassemia Major Patients on Long-Term Treatment with Deferasirox(Amer Soc Hematology, 2016) Aydinok, Yesim; Delebe, Metin; Basol, Gunes; Bayraktaroglu, Selen; Karadas, Nihal; Barutcuoglu, Burcu; Sozmen, Eser; Cabantchik, Zvi IoavÖğe Reference ranges of presepsin (soluble CD14 subtype) in term and preterm neonates without infection, in relation to gestational and postnatal age, in the first 28 days of life(Pergamon-Elsevier Science Ltd, 2020) Ergor, Serap Nur; Yalaz, Mehmet; Koroglu, Ozge Altun; Sozmen, Eser; Akisu, Mete; Kultursay, NilgunObjective: To determine the reference ranges of presepsin in term and preterm neonates without infection, with respect to gestational and postnatal age, within the first 28 days of life. Methods: A total of 144 neonates born at 24-42 weeks' gestation, including healthy term and preterm neonates without clinical signs or symptoms of infection, were included in this prospective observational study. Presepsin measurements included cord blood levels and serum levels on postnatal days 1, 3, 5, 7, 14, 21, and 28. Results: the presepsin values corresponding to the 10th percentile ranged from 240.8 pg/mL (on day 1) to 129.9 pg/mL (on day 28), whereas those corresponding to the 90th percentile ranged from 725.8 pg/mL (on day 1) to 471.6 pg/mL (on day 28). Significantly higher presepsin levels were observed in cesarean deliveries than in spontaneous deliveries (p: 0.012 to < 0.001), in gestational ages <= 32 weeks than in gestational ages >= 37 weeks (p: < 0.05 to < 0.001), and in cases with a maternal history of chorioamnionitis than in those without (p: < 0.05 to < 0.001). Conclusion: in conclusion, our findings revealed, for the first time, the reference ranges of presepsin in healthy term and preterm neonates without infection with respect to gestational and postnatal age, sex, and body weight. Presepsin levels within the first 28 days of life seem likely to be affected by the type of delivery, gestational and postnatal age, birth weight, and presence of respiratory distress syndrome or maternal chorioamnionitis.
