Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the Gene.

Introduction: Vici syndrome is an ultra-rare, congenital disorder of autophagy characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Patients usually present in the neonatal period or infancy with profound hypotonia, based on information available from the nearly 100 cases reported to date.

Case Presentation: We present 3 new cases of Vici syndrome confirmed by genetic analysis of gene.

Serum α-Klotho and fibroblast growth factor 23 levels are not associated with non-proliferative diabetic retinopathy in type 1 diabetes mellitus.

Diabetic retinopathy is a commonly observed cause of blindness and is a common problem in individuals with diabetes. Recent investigations have showed the capability of serum α-Klotho and FGF 23 in mitigating the effects of diabetic retinopathy. This study aimed to discover the correlation between FGF 23, α-Klotho, and diabetic retinopathy in type 1 diabetics.

A protocol for a scoping review of the use of mental simulation and full-scale simulation in practising healthcare decision-making skills of undergraduate nursing students.

Aim: This scoping review aims to explore the effect of FSS and mental simulation on the decision-making skills of nursing students.

Background: Full-scale simulation (FSS) has been the most used simulation modality in nursing education due to its applicability to enhance both technical and non-technical skills. However, FSS can be excessively costly and other factors such as technophobia and lack of trained staff and support make FSS less accessible, especially for nursing education.

The use of Modified Rio score for determining treatment failure in patients with multiple sclerosis: retrospective descriptive case series study.

Predicting treatment failure and switching effective treatment immediately in patients with multiple sclerosis (MS) is important. We aimed to evaluate the usefulness of Modified Rio score (MRS) in predicting treatment failure in MS patients. This is a retrospective study, which was conducted in two University Hospital.

A Novel Combination Technique: Three Points of Epiduroscopic Laser Neural Decompression and Percutaneous Laser Disc Decompression With the Ho:YAG Laser in an MSU Classification 3AB Herniated Disc.

Aim: The aim of this study was to examine the effects of simultaneous epiduroscopic laser neural disc decompression (ELND) and percutaneous laser disc decompression (PLDD) applications using a holmium:yttrium-aluminum-garnet (Ho:YAG) laser in Michigan State University (MSU) classification 3AB herniated discs on VAS and Oswestry Disability Index (ODI) scores.

Methods: In this prospective observational study, ELND and PLDD procedures performed between January 2016 and December 2017 were examined. Preoperative, postoperative week 2, postoperative month 2, and postoperative month 6 ODI and VAS scores were obtained from patient files, and postoperative month 12 ODI and VAS scores were obtained from face-to-face interviews with patients and recorded.

Psychiatric symptom rate of patients with Diabetes Mellitus: A case control study.

Aims: The aim of the study is comparing the psychiatric symptom in Type1 DM, Type 2 DM and controls.

Methods: The study was designed as case control study and conducted between September 2011 and April 2012 to the Diabetes Clinic. Age, gender and education level matched 70 type 1 diabetics, 68 type 2 diabetics and 70 controls included to the study.

Vitamin D status of Turkish type 1 diabetic patients.

Introduction: Vitamin D was associated with the pathogenesis, treatment and prognosis of type 1 and type 2 diabetes mellitus. The aim of this study is to assess vitamin D status of Turkish adult type 1 DM patients and compare them with health controls and also to assess the relationship of vitamin D and glycemic control.

Method: Study was designed as cross-sectional and conducted in a tertiary Hospital diabetes unit.

Comparison of vitamin B12, vitamin D and folic acid blood levels in patients with schizophrenia, drug addiction and controls.

Schizophrenia (SCH) and drug addiction are chronic disorders that are frequently accompanied by physical diseases, poor nutrition and reduced self-care, all of which are likely to result in vitamin deficiencies. The objective of this study was to compare vitamin levels in SCH patients, substance use disorder (SUD) patients and healthy controls (HCs). The study included 189 SCH patients, 119 SUD patients and 109 HCs.

Is Low Serum Klotho Level Associated with Alterations in Coronary Flow Reserve?

Background: The Klotho gene, described as an "aging suppressor" gene, encodes a single-pass transmembrane protein. The extracellular part of Klotho is cleaved and released into the circulation where it may function as a vasculoprotective hormone. Coronary flow reserve (CFR) is accepted as a marker of coronary microvascular dysfunction when epicardial coronary stenosis is absent.

Frequency of ABO/Rhesus Blood Groups in Patients with Diabetes Mellitus.

The correlation between ABO/Rh blood groups and diabetes mellitus is still controversial. The aim of this study was to determine the relationship between ABO/Rhesus blood groups and diabetes in Turkish population. This cross-sectional study was conducted in Istanbul Medeniyet University Göztepe Education and Training Hospital's Diabetes Units.

Fibroblast growth factor-23 but not sKlotho levels are related to diastolic dysfunction in type 1 diabetic patients with early diabetic nephropathy.

Purpose: To investigate the soluble Klotho (sKlotho) and fibroblast growth factor-23 (FGF-23) levels and echocardiographic findings in type 1 diabetic patients with no or early diabetic nephropathy.

Methods: A total of 147 subjects (mean age 34.1 ± 9.

Is serum Klotho protective against atherosclerosis in patients with type 1 diabetes mellitus?

Objective: Klotho deficiency is associated with several metabolic disorders. Two dimensional (2D) longitudinal strain (LS) of left ventricle (LV), carotid artery intima-media thickness (CIMT), flow-mediated dilation (FMD) of brachial artery and epicardial fat thickness (EFT) have been reported to be early predictors of atherosclerosis. We aimed to investigate the relationship between serum Klotho levels and these early predictors of atherosclerosis in patients with type 1 diabetes mellitus (DM).

Prevalence of celiac disease in adult type 1 patients with diabetes.

Objectives: Celiac disease, an autoimmune disease, is related to immune mediated intolerance to gluten. Some studies suggest that Celiac Disease was 20 times more frequent in type 1 patients with diabetes. The objective of our study was to evaluate the prevalence of celiac disease in hospital based type 1 diabetic adults.

Low Serum Level of Klotho Is an Early Predictor of Atherosclerosis.

The Klotho gene, identified as an 'aging suppressor' gene, encodes a single-pass transmembrane protein. The extracellular domain of Klotho is cleaved and released in the blood stream, where it may function as a vasculoprotective hormone. Carotid artery intima-media thickness (CIMT), flow-mediated dilation (FMD) of the brachial artery and epicardial fat thickness (EFT) have been reported as early predictors of atherosclerosis.

Isolation and in vitro characterisation of dental pulp stem cells from natal teeth.

Dental pulp stem cells were primarily derived from the pulp tissues of exfoliated deciduous teeth, primary incisors and permanent third molar teeth. The aim of this study was to isolate and extensively characterise SCs derived from human natal dental pulp (hNDP). For characterisation, proliferation capacity, phenotypic properties, ultrastructural and differentiation characteristics and gene expression profiles were utilised.

Anodic voltammetric behavior and determination of cefixime in pharmaceutical dosage forms and biological fluids.

The voltammetric behavior of cefixime was studied using cyclic, linear sweep, differential pulse and square wave voltammetric techniques. The oxidation of cefixime was irreversible and exhibited diffusion controlled process depending on pH. The oxidation mechanism was proposed and discussed.

Electrochemical determination of HIV drug Abacavir based on its reduction.

Abacavir (I), a drug used in the treatment of HIV, is electrochemically reduced at the dropping mercury electrode in a four-electron process, similar to structurally related adenine (III) and adenosine triphosphate (IV). To undergo the reduction, the species is protonated in the vicinity of the electrode. The protonations take place on the 6-amino group and on one of the pyrimidine ring nitrogens.