Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.

Congenital erythropoietic porphyria (CEP) is a rare genetic disease that is characterized by a severe cutaneous photosensitivity causing unrecoverable deformities, chronic hemolytic anemia requiring blood transfusion program, and by fatal systemic complications. A correct and early diagnosis is required to develop a management plan that is appropriate to the patient's needs. Recently only one case of X-linked CEP had been reported, describing the trans-acting GATA1-R216W mutation.

An evaluation of serum paraoxonase together with arylesterase activities and oxidative stress in children with intractable epilepsy: a cross-sectional study.

Epilepsy is the most common chronic neurological illness in childhood and adolescence. The aim of this study was to investigate paraoxonase and arylesterase activities along with oxidative status parameters in children with intractable epilepsy. The study comprised 42 subjects with intractable epilepsy and a control group of 35 healthy subjects.

Changes in serum desnutrin levels in patients with acne vulgaris.

Background: Androgens and insulin may contribute to increased sebum production in the pathogenesis of acne vulgaris.

Objective: We investigated the association between serum desnutrin levels and acne vulgaris in the pathogenesis of insulin resistance.

Material And Methods: 25 patients presenting with acne vulgaris and 25 control subjects participated in this study.

Preliminary study: Evaluation of melatonin secretion in children and adolescents with type 1 diabetes mellitus.

Objective: Melatonin is an indolamine hormone, synthesized from tryptophan in the pineal gland primarily. Melatonin exerts both antioxidative and immunoregulatory roles but little is known about melatonin secretion in patients with type 1 diabetes mellitus (T1DM). The aim of this study was to measure serum melatonin levels in patients with T1DM and investigates their relationship with type 1 diabetes mellitus.

Glutathione and nitrite levels in induced sputum at COPD patients and healthy smokers.

Objectives: The role of oxidative stress at the pathogenesis of chronic obstructive pulmonary disease (COPD) is known. The aim of this study is to investigate the oxidative stress with sputum induction that is a simple method in COPD patients and healthy smokers.

Methods: Sputum induction was performed in 21 COPD patients (10 stable, 11 acute exacerbations), nine healthy smokers, and ten healthy non-smokers.

Genetic polymorphisms of paraoxonase1 192 and glutathione peroxidase1 197 enzymes in familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an autosomal recessive disorder and is the most frequent of the periodic febrile inflammatory syndromes. The pathogenesis of the disease is not completely understood, even though the FMF gene has been identified. Oxidative stress and inflammation may play a role in the pathogenesis of FMF.

Stability of urinary thromboxane A2 metabolites and adaptation of the extraction method to small urine volume.

Background: Thromboxane (TX) A2 is a pro-thrombotic prostanoid synthesized by activated platelets, biotransformed into 11-dehydro-TXB2, measurable in urines. Eleven-dehydro-TXB2 excretion is increased in high risk cardiovascular diseases; however, this cardiovascular biomarker awaits validation in large trials. The need of large urine volume (8 - 10 mL) and the unknown stability of 11-dehydro-TXB2 in urine after collection might limit its implementation.

Radiation-modifying abilities of Nigella sativa and thymoquinone on radiation-induced nitrosative stress in the brain tissue.

To investigate Nigella sativa oil (NSO) and Thymoquinone (TQ) for their antioxidant effects on the brain tissue of rats exposed to ionizing radiation. Fifty-four male albino Wistar rats, divided into six groups, were designed as group I (normal control group) did not receive NSO, TQ or irradiation; group II (control group of TQ) received dimethyl sulfoxide and sham irradiation; group III (control group of NSO) received saline and sham irradiation; group IV (irradiation plus NSO group) received both 5 Gray of gamma irradiation to total cranium and NSO; group V (irradiation plus TQ group) received both irradiation and TQ; group VI (irradiation alone group) received irradiation plus saline. Alterations in nitric oxide (NO·) and peroxynitrite (ONOO(-)) levels, and nitric oxide synthase (NOS) enzyme activity were measured by biochemical methods in homogenized brain tissue of rats.

Interictal serum S-100B protein levels in intractable epilepsy: a case-control study.

Epilepsy is the most common neurologic disorder of childhood. In approximately 6-14% of all patients with epilepsy, complete seizure control is difficult to achieve with current antiepileptic treatments. Several current studies have shown in both animals and people that the lengthening of epileptic seizures and frequent recurrence increases the likelihood of neuronal damage.

The effects of transport by pneumatic tube system on blood cell count, erythrocyte sedimentation and coagulation tests.

Introduction: Today, the pneumatic tube transport system (PTS) is used frequently because of its advantages related to timing and speed. However, the impact of various types of PTS on blood components is unknown. The aim of this study was to examine the influence of PTS on the quality of routine blood cell counts, erythrocyte sedimentation, and certain blood coagulation tests.

Protocol and standard operating procedures for common use in a worldwide multicenter study on reference values.

The reference intervals (RIs) given in laboratory reports have an important role in aiding clinicians in interpreting test results in reference to values of healthy populations. In this report, we present a proposed protocol and standard operating procedures (SOPs) for common use in conducting multicenter RI studies on a national or international scale. The protocols and consensus on their contents were refined through discussions in recent C-RIDL meetings.

Stability studies of common biochemical analytes in serum separator tubes with or without gel barrier subjected to various storage conditions.

Introduction: The collected and shipped blood samples are exposed to a various extra-analytical factors prior to analysis. The aim of the study was to determine the stability of analytes in serum gel tubes and plain tubes exposed to a range of storage temperatures and times after centrifugation.

Materials And Methods: Fifteen healthy volunteers were recruited and venous blood was collected into four tubes, two with and two without gel separator.

Total and lipid bound sialic acid levels in patients with polycystic ovary syndrome.

Objective: To evaluate serum total and lipid bound sialic acid (TSA&LBSA) levels in patients with polycystic ovary syndrome (PCOS).

Material And Methods: Forty women with PCOS and 35 healthy controls were enrolled in the study. Serum TSA, LBSA, follicle stimulating hormone, lutenizing hormone, estradiol, thyroid stimulating hormone, prolactin, dehydroepiandrosterone sulphate, androstenedione, free testosterone, total testosterone, 17-OH progesterone, sex hormone binding globulin, cortisol, total cholesterol, triglyceride, high density lipoprotein and low density lipoprotein were measured in each subject.

Effects of hemolysis interferences on routine biochemistry parameters.

Introduction: Hemolysis is still the most common reason for rejecting samples, while reobtaining a new sample is an important problem. The aim of this study was to investigate the effects of hemolysis in different hemolysis levels for mostly used biochemical parameters to prevent unnecessary rejections.

Materials And Methods: Sixteen healthy volunteers were enrolled in the study.

Soluble vascular endothelial growth factor receptor 1 in human breast milk.

Background/aims: Vascular endothelial growth factor (VEGF) is a potent proangiogenic protein that activates VEGF receptor (VEGFR-1, VEGFR-2) tyrosine kinases expressed by vascular endothelial cells. A soluble truncated form of VEGFR-1 (sVEGFR-1) binds to VEGF as strongly as full-length VEGFR-1 and inhibits VEGF activity. sVEGFR-1 can be detected in mouse and human plasma but in human milk sVEGFR-1 has not been described previously.

The presence of the peptides apelin, ghrelin and nesfatin-1 in the human breast milk, and the lowering of their levels in patients with gestational diabetes mellitus.

Numerous bioactive peptides (such as ghrelins) have been identified in breast milk but there is no information concerning apelin and nesfatin-1. Therefore, present study was designated to explore whether breast milk contains apelin and nesfatin-1, to determine the concentrations and to compare these with serum levels. In addition, the concentrations of these peptides were compared in patients with gestational diabetes and normal lactating samples.

Relationship between severity of coronary artery disease and apolipoprotein E gene polymorphism.

Objective: To explore the possible contribution of the apolipoprotein (apo) E polymorphisms to the extent and severity of coronary artery disease (CAD) related to lipid metabolism.

Methods: Overall, 53 Turkish patients, aged 54+/-11 years defined by coronary angiography were included in this cross-sectional study. Reardon's coronary artery scoring was used.

New generation IQ-200 automated urine microscopy analyzer compared with KOVA cell chamber.

Objective: The examination of the urine remains to be one of the most commonly performed tests in laboratory practice. Currently, laboratories also need to accredit their urine diagnostics by comparing their measurement methods to acceptable references. In this study we compared particle counts obtained by new generation automated technique, image capture analysis (IQ-200) with those of a standardized chamber counts.

Vascular endothelial growth factor, basic fibroblast growth factor, insulin-like growth factor-I and platelet-derived growth factor levels in human milk of mothers with term and preterm neonates.

Human milk is a complex biological fluid. It contains many nutrients, anti-infectious and biologically active substance. Human milk also contains many angiogenic polypeptides.

The genetics of sleep disorders in humans: narcolepsy, restless legs syndrome, and obstructive sleep apnea syndrome.

Sleep disorders are a group of neurological disorders known to cause public health problems associated with interference with daily activities including cognitive problems, poor job performance and reduced productivity. There is strong evidence emerging for the presence of genes influencing sleep disorders, such as narcolepsy (NRCLP), restless legs syndrome (RLS), and obstructive sleep apnea syndrome (OSAS). NRCLP is typically characterized by excessive daytime sleepiness, cataplexy, sleep paralysis and hallucinations.

Plasma total homocysteine concentrations in a Turkish population sample.

Objectives: The purpose of this study is to determine the reference of plasma total homocysteine levels from a Turkish population and to investigate the relationship of plasma total homocysteine levels with sex and age groups.

Design And Methods: Plasma total homocysteine levels were measured in 2257 Turkish individuals (1381 men and 876 women) aged 1-90 years. Plasma total homocysteine concentrations were determined using high performance liquid chromatography with fluorescence detector.