İncilay Lay
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Anthropometric and metabolic assessment in adults with Down syndrome: the need for novel indices and tailored criteria Open
Adults with DS display distinct cardiometabolic profiles that are poorly captured by traditional indices. Novel markers such as WHtR, BAI, and VAI offer enhanced insight into metabolic risk, whereas PLR emerges as a potential inflammatory …
The determination of heart failure with preserved systolic function by using Galectin-3 and other cardiac markers is affected by vitamin D status Open
Objective: Vitamin D affects heart muscle contraction through its direct and indirect effects on calcium and phosphorus metabolism. We aimed to investigate N-terminal pro-brain natriuretic peptide, high-sensitive troponin-I, galectin-3, fi…
A comparative urinary proteomic and metabolomic analysis between renal aa amyloidosis and membranous nephropathy with clinicopathologic correlations Open
Urinary omics has become a powerful tool for elucidating pathophysiology of glomerular diseases. However, no urinary omics analysis has been performed yet on renal AA amyloidosis. Here, we performed a comparative urine proteomic and metabo…
THU068 Evaluation Of Nonalcoholic Fatty Liver Disease, Liver Fibrosis And Serum Angiopoietin-like Protein Levels In Patients With Acromegaly Open
Disclosure: I. Eroglu: None. B. Gonul Iremli: None. I. Idilman: None. D. Yuce: None. I. Lay: None. D. Akata: None. T. Erbas: None. Background: Due to their impaired glucose and lipid metabolism, acromegaly patients are potentially at risk …
Nonalcoholic Fatty Liver Disease, Liver Fibrosis, and Utility of Noninvasive Scores in Patients With Acromegaly Open
Context Nonalcoholic fatty liver disease (NAFLD) is a metabolical disorder and can lead to liver fibrosis. Because it is commonly seen, several noninvasive scores (NS) have been validated to identify high-risk patients. Patients with NAFLD…
#4952 CLINICOPATHOLOGIC CORRELATIONS OF URINARY PROTEOMIC AND METABOLOMIC ANALYSIS IN PATIENTS WITH RENAL AA AMYLOIDOSIS AND MEMBRANOUS NEPHROPATHY Open
Background and Aims AA Amyloidosis is a multisystemic amyloidosis subtype that develops on the background of various chronic inflammatory etiologies. Urinary omics studies have become a promising tool for elucidating pathophysiology and pr…
Plasma Proteomic Analysis Reveals the Potential Role of Lectin and Alternative Complement Pathways in IgA Vasculitis Pathogenesis Open
Background: IgA vasculitis (IgAV) is the most common form of childhood vasculitis. A better understanding of its pathophysiology is required to identify new potential biomarkers and treatment targets. Objective: to assess the underlying mo…
View article: Plasma levels of oxysterols 7-ketocholesterol and cholestane-3β, 5α, 6β-triol in patients with allergic asthma
Plasma levels of oxysterols 7-ketocholesterol and cholestane-3β, 5α, 6β-triol in patients with allergic asthma Open
The prevalence of allergic asthma is increasing on a global scale, reflecting changes in air pollution, climatic changes, and other environmental stimulants. In allergic conditions, oxidative stress occurs as a result of immune system acti…
Interaction between Dietary Fat Intake and Metabolic Genetic Risk Score on 25-Hydroxyvitamin D Concentrations in a Turkish Adult Population Open
Previous studies have pointed out a link between vitamin D status and metabolic traits, however, consistent evidence has not been provided yet. This cross-sectional study has used a nutrigenetic approach to investigate the interaction betw…
A Child with Developmental Regression and Electroencephalographic Abnormalities Open
A 5-year-and-9-month-old boy was referred for investigation of underlying neurometabolic disease. Developmental milestones were normal until 2 years of age when his social and language skills started to regress following a mild infection. …
In Cellulo Examination of a Beta-Alpha Hybrid Construct of Beta-Hexosaminidase A Subunits, Reported to Interact with the GM2 Activator Protein and Hydrolyze GM2 Ganglioside Open
The hydrolysis in lysosomes of GM2 ganglioside to GM3 ganglioside requires the correct synthesis, intracellular assembly and transport of three separate gene products; i.e., the alpha and beta subunits of heterodimeric beta-hexosaminidase …
In Cellulo Examination of a Beta-Alpha Hybrid Construct of Beta-Hexosaminidase A Subunits, Reported to Interact with the GM2 Activator Protein and Hydrolyze GM2 Ganglioside Open
The hydrolysis in lysosomes of GM2 ganglioside to GM3 ganglioside requires the correct synthesis, intracellular assembly and transport of three separate gene products; i.e., the alpha and beta subunits of heterodimeric beta-hexosaminidase …
Increased Plasma YKL-40 Level and Chitotriosidase Activity in Cystic Fibrosis Patients Open
Background We investigated plasma YKL-40 levels and chitotriosidase (CHIT1) activity in patients with cystic fibrosis (CF) lung disease and evaluated clinically relevant factors that may affect their levels. Methods Plasma samples were obt…
The Value of 4D Speckle-Tracking Strain Echocardiography in Evaluating the Relationship Between Asprosin and Growth Differentiation Factor-15 Levels and Subclinical Systolic Dysfunction in Patients With Acromegaly and Prolactinoma Open
Introduction: In patients with acromegaly and prolactinoma, the long-term presence of elevated GH and PRL levels is associated with an unfavorable cardiovascular risk profile. Early recognition of dysfunctions related to cardiovascular com…
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders Open
Background Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on…
View article: Additional file 2 of A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders
Additional file 2 of A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders Open
Additional file 2: Table S2a. Results of urinary oligosaccharides analysis expressed as multiple of the median (MoM); Table S2b. Results of oligosaccharides analysis in DUS expressed as multiple of the median (MoM).
In Cellulo Examination of a Beta-Alpha Hybrid Construct of Beta-Hexosaminidase A Subunits, Reported to Interact with the GM2 Activator Protein and Hydrolyze GM2 Ganglioside Open
The hydrolysis in lysosomes of GM2 ganglioside to GM3 ganglioside requires the correct synthesis, intracellular assembly and transport of three separate gene products; i.e., the alpha and beta subunits of heterodimeric beta-hexosaminidase …
Pathways and Inborn Errors of Bile Acid Synthesis Open
Bile acids are synthesized from cholesterol through 17 different enzymes located in different intracellular compartments of hepatocytes. Defects have been identified in the genes encoding the enzymes involved in the bile acid synthesis pat…
MON-438 A Novel Insight into the Pathophysiology of Acromegalic Cardiomyopathy: Integrating Serum FSTL1 Levels and FSTL1 Polymorphisms with Cardiac MRI Findings Open
Background: Despite prolonged survival, the mortality rate of acromegalic patients is still higher. Cardiovascular disorders continue to be the most common cause of death. The exact pathophysiologic mechanisms of acromegalic cardiomyopathy…
MON-113 Taste Sensitivity is Related to Incretin Response to Oral Glucose Challenge, Dietary Habits and Body Composition: A Novel Link with Energy Metabolism Open
Introduction: The effects of interindividual variability of taste sensitivity on energy metabolism is not yet known. We have studied the effect of taste sensitivities on dietary habits, body composition, and incretin responses to the oral …
Impact of Fat Mass and Obesity Associated (FTO) Gene Variants and Lifestyle Factors on Obesity Traits in A Turkish Population Open
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Cerebrospinal fluid oligoclonal banding patterns and intrathecal immunoglobulin synthesis: Data comparison from a wide patient group Open
Objective: This study aimed to evaluate laboratory oligoclonal band (OCB) patterns together with related IgG results and compare these results with data obtained through final clinical diagnosis. Also, to evaluate electrophoretic patterns …
The effect of effort test on the levels of ischemia modified albumin, 7-ketocholesterol and cholestan-3β , 5α , 6β -triol and their role in the diagnosis of coronary artery disease Open
Summary Background Oxysterols have been shown to play a role in plaque formation while ischemia modified albumin (IMA) is widely accepted as an acute marker for ischemia. The effort test is one of the methods used to identify the presence …
Hypocholesterolemia and Increased Plasma 7-ketocholesterol Levels in Pediatric Sickle Cell Patients Open
Introduction: Hypocholesterolemia is the most documented lipid abnormality in sickle cell disease which is also characterized by increased oxidative stress. We investigated plasma levels of oxysterols, oxidized cholesterol derivatives, in …
Easy method for newborn screening of six lysosomal storage disorders using online solid-phase extraction with mass spectrometry / Altı lizozomal depo hastağının yenidoğan taramasında, online katı faz eksraksiyon kullanılarak kütle spektrometresi ile ölçümünde kolay bir metod Open
Objective: A modified method for screening of six lysosomal storage disorders (LSDs) by tandem mass spectrometry was presented. Methods: The enzyme activities for six LSDs (Gaucher, Pompe, Krabbe, Fabry, Niemann-Pick A/B and Mucopolysaccha…
Determination of Intestinal Enzyme Activities During Infancy Period Open
Introduction: Intestinal enzyme activities are indirect indicators that reflect the existence and metabolic activity of bacteria living in the intestinal flora. The purpose of the study was to measure fecal beta (β)-glucuronidase, β-glucos…
Genetic Risk Factors for Psoriasis in Turkish Population: -1540 C/A, -1512 Ins18, and +405 C/G Polymorphisms within the Vascular Endothelial Growth Factor Gene Open
VEGFA gene +405 GG and CG, -1512+Ins18, and -1540 CA genotypes are associated with an increased risk of psoriasis in Turkish population. The G allele at +405 and an 18-bp insertion at -1512 are primarily the risk factors for psoriasis, and…