Background: Free radical-mediated oxidative stress has been implicated in the etiopathogenesis of several autoimmune disorders. Also, there is growing evidence supporting role reactive oxygen species pathogenesis thyroid The aim this study was to investigate influence hypothyroidism, hyperthyroidism, and their treatments on metabolic state stress, antioxidant status markers.

Summary Objective The aim of this study was to investigate serum leptin, oxidized low density lipoprotein (ox‐LDL) and asymmetric dimethylarginine (ADMA) levels their interaction with dyslipidaemia in adolescents polycystic ovary syndrome (PCOS). Patients design group consisted 23 obese (obPCOS) 21 nonobese girls PCOS (nPCOS), 31 lean healthy controls. defined by the National Institutes Health (NIH) criteria as presence chronic oligoanovulation hyperandrogenism. Fasting ox‐LDL, ADMA detailed...

Atrial fibrillation (AF) is known to be related with increased risk of thromboembolic events. Asymmetrical dimethylarginine (ADMA), which an endogenous inhibitor nitric oxide synthase (NOS), can cause endothelial dysfunction by decreasing (NO) and lead thrombosis. In the present study our aim was compare plasma levels ADMA in patients acute onset (< 24 hours) chronic AF (> 1 year) determine thrombosis.17 first detected attack within hours presentation (group 1), 25 who had permanent lasting...

Abstract Objectives Gaucher disease (GD) is a lysosomal storage caused by glucocerebrosidase (GCase) enzyme deficiency. cells transformed from the macrophages progressive sphingolipid accumulation and infiltrate bone marrow, spleen, liver, other organs. The of substrate causes inflammation, compromised cellular homeostasis, disturbed autophagy. It has been hypothesized that this proinflammatory state GD leads cytokines chemokines release. As result inflammatory process, dysfunction...

Abstract In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented only autism, without any other findings, suggest neurological and genetic disorders. To investigate IEM, data hospital records 247 were referred from pediatric psychiatric outpatient clinics due further evaluation autism spectrum disorders (ASD) examined. Among them, 237 evaluated for IEM leading ASDs. Organic acidemias, phenylketonuria, tetrahydrobiopterin neutrotransmitter...

&lt;b&gt;&lt;i&gt;Introduction:&lt;/i&gt;&lt;/b&gt; Glycogen storage disease Type III (GSD III) is an autosomal recessive caused by the deficiency of glycogen debranching enzyme, encoded AGL gene. Two clinical types are most prevalent: GSD IIIa involves liver and muscle, whereas IIIb affects only liver. The classical dietetic management prevention fasting, frequent feeds with high complex carbohydrates in small children, a low-carb-high-protein diet older children adults. Recently, diets...

Given that the endogenous nitric oxide synthase inhibitor, asymmetric dimethylarginine, can decrease bioavailability and lead to atherosclerosis, its concentration be a good predictor for coronary artery disease. In this study, we investigated relationship of plasma dimethylarginine with lesion distribution severity at angiography.Ninety-eight patients stable angina were enrolled prospectively. We divided into two groups. Group I (n=37) included normal arteries. All other in group II (n=61)....

Introduction Nitric oxide (NO) plays a major role in collateral vessel development. Asymmetric dimethylarginine (ADMA) that is an endogenous inhibitor of NO synthesis may impair the effective coronary The aim this study was to evaluate relationship between plasma ADMA level and Methods patients with greater than or equal 95% obstruction at least one epicardial artery were included study. Degree development determined according Rentrop method. Patients grade 2–3 regarded as good group formed...

A family with 3-methylcrotonyl-CoA carboxylase deficiency different clinical features is described. 15-month-old boy, who was the index patient, admitted to hospital atonic seizure. His brother had delayed language development and their uncle been followed diagnosis of epilepsy for last 5 years. Urinary organic acid analysis displayed elevated 3-hydroxyisovaleric 3-methylcrotonylglycine, acylcarnitines showed 3-hydroxyisovalerylcarnitine decreased free carnitine levels in both patients...

Aim : To assess the effect of anticonvulsant treatment on plasma homocysteine level and lipoprotein (a) in epileptic children. Methods Plasma total homocysteine, folate, vitamin B 12 concentrations were measured 111 children taking drugs for longer than mo. Forty‐six healthy, sex‐ age‐matched served as controls. Results Patients controls differed significantly ( p &gt; 0.05) 0.001). The number patients with &gt;9 μM was higher patient group control group. A significant inverse relationship...

GM2 gangliosidosis is a rare form of inborn errors metabolism including Tay-Sachs disease, Sandhoff and activator deficiency. protein deficiency an ultra-rare gangliosidosis. To date, 16 cases have been reported in the literature, among them, 11 were infantile disease. Here we report first two patients from Turkey with disease novel likely pathogenic variant.A boy eight months old presented to metabolic department very mild neurological deterioration, although he had achieved early...

Abstract Background: In many neurological disorders, injury to neurons may be due in part overstimulation of the receptors for excitatory amino acids glutamate and aspartate. The same excitotoxic mechanism high aspartate levels experimental studies led this study concentrations zinc, copper, magnesium cerebrospinal fluid (CSF) hypoglycemic newborns. Methods: Aspartate were determined by high‐performance liquid chromatography, magnesium, zinc copper atomic absorption spectrophotometer....

Aim Zinc is known as an essential trace element and has antioxidant functions. This study was planned to investigate the effects of zinc on oxidative stress induced by ethanol in rat liver tissue. Methods: Thirty-nine male rats were divided into four groups control, (EtOH), (Zn), plus (EtOH+Zn). The control group (n=10) injected intraperitoneally (i.p.) with 0.9% saline, EtOH 2g kg/day ethanol, Zn received orally, ZnSO 4 .7H 2 O at a dose 7 mg EtOH+Zn (n=9) (orally) (i.p.). On 13th day,...

ABSTRACT This prospective study was designed to investigate whether or not monotherapy with sodium valproate (VPA) oxcarbazepine (OXC) affects plasma levels of fatty acylcarnitine esters in children epilepsy. A total 56 idiopathic partial generalised epilepsy were included the study. Patients assigned receive either VPA OXC monotherapy. Free carnitine (C0) and profiles patients investigated using tandem mass spectrometry at baseline six 18 months after commencement therapy. For receiving...