Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.

Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disease with visceral organ involvement and neurological and psychiatric symptoms. This study presents the clinical and laboratory findings of NPC cases involving three novel variants.

Methods: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.

Determination of selected oxysterol levels, oxidative stress, and macrophage activation indicators in children and adolescents with familial hypercholesterolemia.

Aim: Elevated levels of cholesterol in the bloodstream, also referred to as hypercholesterolemia, pose a significant risk for the onset of cardiovascular and cerebrovascular diseases. Oxysterols, cholesterol-derived oxidized compounds that form enzymatically or non-enzymatically, contribute to the development of atherosclerosis and coronary artery disease. This study aimed to examine the critical oxysterol levels in children and adolescents with hypercholesterolemia and explore the correlation between these levels, oxidative stress, and atherosclerosis progression.

Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels.

Galactosemia is an inherited disease that occurs as a result of insufficient or no synthesis of some enzymes (GALT, GALK, and GALE) in galactose metabolism. Failure to make an early diagnosis, especially in newborns, can lead to severe clinical and even fatal consequences. The aim of this study is to develop a biosensor for measuring free galactose in plasma.

Region-Based Semi-Two-Stream Convolutional Neural Networks for Pressure Ulcer Recognition.

Pressure ulcers are a common, painful, costly, and often preventable complication associated with prolonged immobility in bedridden patients. It is a significant health problem worldwide because it is frequently seen in inpatients and has high treatment costs. For the treatment to be effective and to ensure an international standardization for all patients, it is essential that the diagnosis of pressure ulcers is made in the early stages and correctly.

Elevating healthcare through artificial intelligence: analyzing the abdominal emergencies data set (TR_ABDOMEN_RAD_EMERGENCY) at TEKNOFEST-2022.

Objectives: The artificial intelligence competition in healthcare at TEKNOFEST-2022 provided a platform to address the complex multi-class classification challenge of abdominal emergencies using computer vision techniques. This manuscript aimed to comprehensively present the methodologies for data preparation, annotation procedures, and rigorous evaluation metrics. Moreover, it was conducted to introduce a meticulously curated abdominal emergencies data set to the researchers.

Sex-related differences in within-subject biological variation estimates for 22 essential and non-essential amino acids.

Background: Measurement of serum amino acid (AA) concentrations is important in particular for the diagnosis and monitoring of inborn errors of AA metabolism. To ensure optimal clinical interpretation of AAs, reliable biological variation (BV) data are essential. In the present study, we derived BV data for 22 non-essential, conditionally essential, and essential AAs and assessed differences in BV of AAs related to sex.

Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity.

Galactosemia is a carbohydrate metabolism disorder often caused by galactose-1-phosphate uridyl transferase (GALT) deficiency. Detecting GALT deficiency involves measuring intra-erythrocyte enzyme activity. We aimed to create a robust liquid chromatography-mass spectrometry (LC-MS/MS) method to assess GALT activity in dried blood spot (DBS) samples.

Research training program in a Turkish medical school: challenges, barriers and opportunities from the perspectives of the students and faculty members.

Background: Providing medical students with opportunities for research experience is challenging for medical schools in developing countries. The Research Training Program (RTP), which is carried out in Ege University Faculty of Medicine (EUFM) parallel to the core curriculum, aims to improve the scientific competencies of the highly motivated students and to provide them with the opportunity to conduct a research. The purpose of this project is to evaluate RTP through the perspectives of students and faculty members.

Utilization of biological variation data in the interpretation of laboratory test results - survey about clinicians' opinion and knowledge.

Introduction: To interpret test results correctly, understanding of the variations that affect test results is essential. The aim of this study is: 1) to evaluate the clinicians' knowledge and opinion concerning biological variation (BV), and 2) to investigate if clinicians use BV in the interpretation of test results.

Materials And Methods: This study uses a questionnaire comprising open-ended and close-ended questions.

The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population.

Background Recently, urinary excretion of the tetrasaccharide 6-α-D-glucopyranosyl-maltotriose (Glc4) has been proposed as a marker for the diagnosis and monitoring of Pompe disease (PD). We aimed to determine the reference intervals and reliable decision-making levels of urine tetrasaccharide concentrations for the diagnosis of infantile- and late-onset Pompe patients in the Turkish population. Methods In this study, nine patients with PD (five of them with late-onset PD [LOPD]) and 226 healthy individuals (aged 0-64 years) were included.

LC-MS/MS measurement of leukocyte cystine; effect of preanalytic factors.

Cystinosis is an autosomal recessive disorder characterized by the accumulation of cystine in lysosomes, causing irreversible damage to organs, especially the kidneys. Intracellular leukocyte cystine concentrations are used to diagnose cystinosis and to monitor cysteamine treatment. The aim of this study was to develop and validate a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method without derivatization capable of measuring leukocyte intracellular cystine concentrations.

Non-invasive cortisol detection in saliva by using molecularly cortisol imprinted fullerene-acrylamide modified screen printed electrodes.

In this study, we developed an impedimetric sensor system by using molecularly cortisol imprinted acrylamide polymers on fullerene modified carbon electrode to detect cortisol in real saliva samples. The polymer layer was formed on fullerene modified screen printed carbon electrodes with the ratio of 1:2 (cortisol:acrylamide) and ammonium persulfate (APS) was used as the initiator of polymerization. The sensor surface was investigated by cyclic voltammetry (CV), electrochemical impedance spectroscopy (EIS) and Scanning Electron Microscopy (SEM).

Assessing Anticancer Potential of Blueberry Flavonoids, Quercetin, Kaempferol, and Gentisic Acid, Through Oxidative Stress and Apoptosis Parameters on HCT-116 Cells.

In 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.

Methods for Determination of α-Glycosidase, β-Glycosidase, and α-Galactosidase Activities in Dried Blood Spot Samples.

The lysosomal storage diseases (LDSs) are a heterogeneous group of inherited genetic disorders caused by defects of lysosomal proteins. The accumulation of undigested substrates from different catabolic pathways leads to cellular dysfunction. LSDs generally presents during early childhood and have a devastating impact on the families and on public health.

Infertility and the presence of insulin resistance are associated with increased oxidative stress in young, non-obese Turkish women with polycystic ovary syndrome.

Study Objective: To investigate the relationship between both insulin resistance and fertility and the oxidant/antioxidant system in young, non-obese patients diagnosed with polycystic ovary syndrome (PCOS).

Design: Case-control study.

Setting: Department of Obstetrics and Gynecology, Ege University, Izmir, Turkey.

The effects of different intraabdominal pressure protocols in laparoscopic procedures on oxidative stress markers and morphology in rat ovaries.

Background: To determine the effects of different intraabdominal pressure (IAP) on the ovaries in a laparoscopic rat model.

Objectives: The aim of the study was to determine the effects on the ovaries of different intraabdominal pressures (IAP) in laparoscopic surgery in a rat model.

Material And Methods: Thirty-two post-pubertal nonpregnant Sprague-Dawley rats were divided randomly into four groups.

Increased stem cell marker expressions during the peri-implantation period in the rat endometrium: constructive role of exogenous zinc and/or progesterone.

Background: The aim of this study is to determine the effects of zinc and/or progesterone via the expression of α v β 5 integrins and Vitronectins and embryonic stem cell markers during the peri-implantation period.

Methods: Four experimental groups were organized. All subjects were mated with males of the same strain to induce pregnancy; after 5 days, zinc and/or progesterone were administered.

The effects of raloxifene treatment on oxidative status in brain tissues and learning process of ovariectomized rats.

Background: The effects of estrogene on central nervous system are still controversial.

Objective: We aimed to investigate the effects of raloxifene on the antioxidant enzyme [superoxide dismutase (SOD) and catalase (CAT)] activities and malondialdehyde (MDA) levels in brain homogenates of ovariectomized female rats and its effect on cognitive process of learning.

Materials And Methods: Female Sprague Dawley rats (n=24) were divided into three groups.

Effect of atorvastatin therapy on oxidant-antioxidant status and atherosclerotic plaque formation.

Background: The aim of this study was to determine the oxidant-antioxidant status and lipid peroxidation products, as well as paraoxonase and atherosclerotic plaque formation, in a hypercholesterolemic atherosclerosis rabbit model to investigate the effects of atorvastatin in the atherosclerotic process.

Methods: Forty male New Zealand rabbits were divided into four groups, ie, a control group receiving standard pellets, a group receiving atorvastatin therapy, a hypercholesterolemic group receiving an atherogenic diet, and a group receiving both an atherogenic diet and atorvastatin.

Results: The atherogenic diet increased the levels of low-density lipoprotein (LDL) thiobarbituric acid reactive substances (1.

Fenofibrate treatment enhances antioxidant status and attenuates endothelial dysfunction in streptozotocin-induced diabetic rats.

Diabetic endothelial dysfunction is accompanied by increased oxidative stress and upregulated proinflammatory and inflammatory mediators in the vasculature. Activation of peroxisome proliferator-activated receptor-alpha (PPAR-α) results in antioxidant and anti-inflammatory effects. This study was designed to investigate the effect of fenofibrate, a PPAR-α activator, on the endothelial dysfunction, oxidative stress, and inflammation in streptozotocin diabetic rats.

Resveratrol attenuates doxorubicin-induced cellular damage by modulating nitric oxide and apoptosis.

Although doxorubicin (DOX) is a commonly used chemotherapeutic agent its clinical use is restricted due to its organ toxicities. The present investigation relates to reducing DOX induced side effects to the liver, kidney and ileum by usage of the antioxidant, anti-inflammatory agent, resveratrol (RES) and to investigate the role of nitric oxide synthase (NOS) in the process. Wistar rats were divided into four groups: control (saline i.

Alterations in L-arginine and inflammatory markers in type 2 diabetic patients with and without microalbuminuria.

Low-grade inflammation is closely involved in the pathogenesis of type 2 diabetes and associated micro- and macrovascular complications. The nitric oxide (NO) precursor L-arginine, is relevant to diverse pathological conditions including type 2 diabetes and its complications. High sensitive-CRP (hs-CRP), neopterin and arginine levels were measured in 46 normoalbuminuric, 45 microalbuminuric type 2 diabetics and in 32 healthy controls in order to assess the relationship between markers of inflammation and L: -arginine.

Pomegranate wine has greater protection capacity than red wine on low-density lipoprotein oxidation.

Although there is a large body of evidence on the main role of red wine in protection of low-density lipoprotein (LDL) against oxidation, there are few data on the role of pomegranate juice, which has high phenolic content. We conducted this study considering the possible importance of pomegranate wine as an antioxidant and in order to make a comparison between red and pomegranate wines. The phenol levels of pomegranate and red wines (4,850 mg/L gallic acid equivalents and 815 mg/L gallic acid equivalents, respectively) were in accordance with their total antioxidant activity (39.

Neuroprotective effects of melatonin upon the offspring cerebellar cortex in the rat model of BCNU-induced cortical dysplasia.

Cortical dysplasia is a malformation characterized by defects in proliferation, migration and maturation. This study was designed to evaluate the alterations in offspring rat cerebellum induced by maternal exposure to carmustine-[1,3-bis (2-chloroethyl)-1-nitrosoure] (BCNU) and to investigate the effects of exogenous melatonin upon cerebellar BCNU-induced cortical dysplasia, using histological and biochemical analyses. Pregnant Wistar rats were assigned to five groups: intact-control, saline-control, melatonin-treated, BCNU-exposed and BCNU-exposed plus melatonin.