The relationship between stathmin-2 level and metabolic parameters in newly diagnosed type 2 diabetes mellitus patients.

Background: Stathmin is a phosphoprotein that plays a role in intercellular and intracellular signaling, inflammation, and differentiation. Our aim was to evaluate the stathmin-2 level and its relationship with the metabolic parameters of newly diagnosed type 2 diabetes mellitus (nT2DM) patients.

Material And Method: This case-control study included 76 patients with nT2DM and 76 healthy individuals with a normal oral glucose tolerance test who were matched for body mass index (BMI), age, and gender.

Relationship of Serum Kallistatin Level With Arterial Stiffness and Metabolic Parameters in Obesity-Related Chronic Kidney Disease.

Objectives: We investigated the relationship between serum kallistatin and kidney disease and proteinuria in nondiabetic obesity-related chronic kidney disease and observed the effects on arterial stiffness.

Materials And Methods: We included 40 patients with nondiabetic obesity-related chronic kidney disease followed in our nephrology clinic and a control group of 40 participants without chronic kidney disease matched by age, sex, and mean body mass index (measured as weight in kilograms divided by height in meters squared). Pulse-wave velocity and augmentation index were measured oscillometrically by pulse-wave analysis (Mobil-O-Graph) by the same operator.

Epiregulin: A new prognostic molecule in non-Hodgkin lymphoma.

Background: Epiregulin is a molecule that plays a role in cell proliferation, tumor development, inflammation, and angiogenesis in malignant diseases.

Aim: Our study aims to reveal, for the first time, the predictive value of this molecule in non-Hodgkin lymphoma (NHL) and its association with disease stage, cell type, and extranodal involvement.

Methods: The study is an observational case-control trial involving 60 newly diagnosed NHL patients and 60 healthy individuals (control group) between 18 and 75 years old.

Assessment of osteoprotegerin and RANKL levels and several cardiovascular risk scoring systems in acromegaly.

Purpose: The OPG/RANKL (osteoprotegerin/receptor activator of nuclear factor kappa-B) system, which plays a crucial role in bone metabolism, is also associated with vascular calcification. Acromegaly is characterized by excessive secretion of growth hormone and insulin-like growth factor, and studies have demonstrated an elevated risk of cardiovascular disease in individuals with acromegaly. In this study, our objective was to investigate the relationship between OPG/RANKL and various cardiovascular risk scoring systems.

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.

Background: Congenital myasthenic syndrome is a disease that occurs due to several types such as mutations in different pre-synaptic, synaptic, post-synaptic proteins and, glycosylation defects associated with congenital myopathy. Juvenile myasthenia gravis is an autoimmune condition usually caused by antibodies targeting the acetylcholine receptor.

Aims: Our objective is to conduct an analysis on the subgroup traits exhibited by patients who have been diagnosed with congenital myasthenic syndrome and juvenile myasthenia gravis, with a focus on their long-term monitoring and management.

Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation.

Objectives: Familial Mediterranean Fever (FMF) is an inflammatory disease characterised by periodic fever and concurrent episodes of serous membrane inflammation. FMF is considered to be inherited in autosomal recessive manner and biallelic mutations in the MEFV gene are associated with the disease. However, approximately 20-25% of patients only have a single mutation in MEFV gene, which creates confusion in differential diagnosis of many patients.

Hemoglobin A can differentiate subjects with mutations among patients suspected to have MODY.

Objectives: The aim of this study is to determine the clinical and molecular characteristics enabling differential diagnosis in a group of Turkish children clinically diagnosed with MODY and identify the cut-off value of HbA, which can distinguish patients with GCK variants from young-onset type 1 and type 2 diabetes.

Methods: The study included 49 patients from 48 unrelated families who were admitted between 2018 and 2020 with a clinical diagnosis of MODY. Clinical and laboratory characteristics of the patients at the time of the diagnosis were obtained from hospital records.

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct.

Pelger-Huet anomaly (PHA) is a benign hematological anomaly that is characterized by impaired lobulation of neutrophils with a coarse nuclear chromatin. Skeletal abnormalities may accompany this anomaly. Autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct (EVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL).

Associations Between Bioavailable Vitamin D and Remnant Cholesterol in Patients With Type 2 Diabetes Mellitus.

Introduction In circulation, 99% vitamin D is transported by binding to vitamin D binding protein (VDBP) and albumin. Vitamin D at free form and vitamin D binding to albumin are defined as bioavailable vitamin D. Vitamin D deficiency is associated with atherogenic lipid profile and insulin resistance.

and Mutations in a Highly Consanguineous Family.

We present a Turkish family with two cousins (OC15 and OC15b) affected with syndromic developmental delay, microcephaly, and trigonocephaly but with some phenotypic traits distinct between them. OC15 showed asymmetrical skeletal defects and syndactyly, while OC15b presented with a more severe microcephaly and semilobal holoprosencephaly. All four progenitors were related and OC15 parents were consanguineous.

The level of the neudesin in type-2 diabetic patients and the relationship between the metabolic parameters and carotid intima-media thickness.

Background: Neudesin is a protein that is secreted from adipose tissue and central nervous system and has a regulatory function on energy metabolism. Although the effect of this protein is shown in the experimental model of type-2 diabetes mellitus (type-2DM), its effect in humans is not clearly known. In this study, we aimed to evaluate the relationship between serum neudesin level and metabolic, anthropometric and cardiovascular parameters in newly diagnosed type-2DM patients (group 1).

The comparison of analytical performances of Mindray CL-1000i and Beckman Coulter Access II Troponin I methods in the light of recent guidelines and the quality requirements.

Background: The results of cardiac troponin I (cTnI) methods used in the diagnosis of acute myocardial infarction (AMI) are highly variable. In this study, it was aimed to compare the analytical performance of the Mindray CL-series TnI method with the Beckman Coulter-Access II AccuTnI+3 method.

Methods: Analytical performance and method comparison experiments for cTnI measurement with Mindray CL-1000i and Beckman Coulter-Access II instruments were with the Clinical and Laboratory Standards Institute (CLSI) documents EP15-A3 and EP9-A3.

Impact of chemerin, lipid profile, and insulin resistance on disease parameters in patients with multiple sclerosis.

Introduction: Plasma chemerin, which has chemotactic and adipogenic functions, is increased in several inflammatory diseases. However, its relationship with multiple sclerosis (MS) has not been explored yet. In this study, we aimed to determine chemerin levels and their possible role in MS.

Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development.

Background And Aim: The number of reports on the role of tubulin gene mutations (TUBA1A, TUBB2B, and TUBB3) in etiology of malformations of cortical development has peaked in recent years. We aimed to determine tubulin gene defects on a patient population with simple and complex malformations of cortical development, and investigate the relationship between tubulin gene mutations and disease phenotype.

Materials And Methods: We evaluated 47 patients with simple or complex malformations of cortical development, as determined by radiological examination, for demographic features, clinical findings and mutations on TUBA1A, TUBB2B, and TUBB3 genes.

Correlation of serum C1q-tumour necrosis factor-related protein 5 levels with metabolic parameters and carotid intima-media thickness in newly diagnosed type 2 diabetes mellitus patients.

Purpose: Recent studies have shown that cytokines secreted from adipose tissues play a role in the pathogenesis of type 2 diabetes mellitus (T2DM). CTRP5 (C1q-TNF-related protein 5) is a novel adipokine that has been shown to be associated with glucose and lipid metabolism. Varying levels of CTRP5 have been reported in individuals with diabetes, obesity and coronary artery disease.

Neudesin: a neuropeptide hormone decreased in subjects with polycystic ovary syndrome.

Neudesin is a neuropeptide hormone involves in female reproduction system via promoting effects of progesterone. Polycystic ovary syndrome (PCOS) is a metabolic and reproductive disorder associated with hypothalamic-pituitary-ovarian axis abnormalities and impaired negative feedback mechanism of progesterone upon gonadotropin-releasing hormone secretion. Our aims were to discover whether neudesin levels were altered in PCOS women comparing to controls and to determine the link of neudesin with hormonal-metabolic parameters in PCOS women.

Relation of Decreased Circulating Sortilin Levels With Unfavorable Metabolic Profiles in Subjects With Newly Diagnosed Type 2 Diabetes Mellitus.

Background: Sortilin, a pluripotent peptide hormone, plays a role in glucose and lipid metabolism. A link between sortilin and insulin sensitivity has been implicated. However, the clinical implications of this link remain elusive.

Increased urocortin 3 levels are associated with the risk of having type 2 diabetes mellitus.

Background: Urocortin 3 (UCN3) is a peptide hormone playing a pivotal role in glucose and lipid metabolisms. However, its clinical implications remain unclear. Our aims were to investigate the altered levels of UCN3 in newly diagnosed type 2 diabetes mellitus (nT2DM) patients in comparison to subjects with normal glucose tolerance (NGT) and to determine the presence of any possible link between UCN3 levels and metabolic parameters.

Assessment of subclinical atherosclerotic cardiovascular disease in patients with ankylosing spondylitis.

Objective: The aim of the present study was to compare patients with ankylosing spondylitis (AS) with healthy controls with respect to subclinical atherosclerotic cardiovascular disease (CVD).

Methods: A total of 44 patients with AS with no history of CVD, diabetes mellitus, hypertension, chronic kidney disease, and lipid-lowering drug use were compared with 40 age- and sex-matched healthy controls with respect to carotid intima-media thickness (CIMT) and pulse wave velocity (PWV), which are surrogate markers of subclinical atherosclerosis. Correlation analysis was also performed to examine the association between surrogate markers and disease activity with inflammation [Ankylosing spondylitis disease activity score with C-reactive protein (ASDAS-CRP)].

Evaluation of Analytical Performance of Variant II Turbo HbA1c Analyzer According to Sigma Metrics.

Background: Hemoglobin A1c, (HbA1c) which is the major constituent of glycated hemoglobin, has been used in the follow-up of retrospective glycemia for years and in the diagnosis of diabetes mellitus nowadays. Since the analytical performance of HbA1c should be high likewise all laboratory tests, various quality control measures are used. Sigma metrics is one of these measures and it is the combination of bias, precision and total allowable error that ensures a general evaluation of analytical quality.

The effect of orlistat and weight loss diet on plasma ghrelin and obestatin.

Background: The objective of this study was to evaluate the effect of weight loss with hypocaloric diet and orlistat treatment in addition to hypocaloric diet on gut-derived hormones ghrelin and obestatin.

Materials And Methods: A total of 52, euglycemic and euthyroid, obese female patients were involved in the study. The patients were assigned to two groups: Group 1 ( = 26) received hypocaloric diet alone and Group 2 ( = 26) received orlistat in addition to hypocaloric diet for 12 weeks.

Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia.

Schizophrenia is a genetically complex disease that is related to neurodevelopmental abnormalities. Several genetic polymorphisms and genetic syndromes associated with neurodevelopmental processes have been linked to schizophrenia. In this case report, we present a case with an association between microcephalic osteodysplastic primordial dwarfism type II and schizophrenia.

Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.

Background/aim: CHARGE syndrome is a rare autosomal dominant disease with multiple congenital anomalies and cognitive impairment, which is caused by mutations in the CHD7 gene. This study aimed to disclose the mild end of the phenotypic spectrum of CHARGE syndrome, which has a highly variable expressivity. Materials and methods: Twenty-one patients who had at least one of the major symptoms of CHARGE syndrome (coloboma, choanal atresia, characteristic ear anomalies, semicircular canal hypoplasia, and cranial nerve anomalies) were included in the study.

Association of decreased C1q/tumor necrosis factor-related protein-5 levels with metabolic and hormonal disturbance in polycystic ovary syndrome.

Objective: C1q/tumor necrosis factor-related protein-5 (CTRP5) is a novel peptide hormone involved in the metabolism of energy regulation. Polycystic ovary syndrome (PCOS), which is a reproductive and metabolic disorder, is associated with insulin resistance. The aim of the current study was to compare circulating levels of CTRP5 in women with and without PCOS and to investigate possible associations between CTRP5 and metabolic-hormonal parameters.