“Uzuner N”

Christianson Syndrome (CS) is an X-linked disorder resulting from loss-of-function (LoF) mutations in SLC9A6 encoding the endosomal Na+/H+ exchanger 6 (NHE6). CS presents with developmental delay, seizures, intellectual disability, nonverbal status, postnatal microcephaly, and ataxia. To define transcriptome signatures of NHE6 LoF, we conducted in-depth RNA-sequencing (RNA-seq) analysis on a haploid NHE6 null cell model. CRIPSR/Cas9 genome editing introduced multiple LoF mutations into SLC9A6 in the near haploid human cell line Hap1...

The plants that we use as food in our daily diet and as risk preventers against many diseases have many biological and pharmacological activities. The heat treatments applied during the cooking of the plants cause changes in the phytochemical content and bioactivity. In this study, the phytochemical fingerprint and biological activities of raw and heat-treated extracts of Ornithogalum umbellatum L., which is widely consumed in the Black Sea region, were investigated. The bulb and leaf parts of the plant consumed as food were dried in an oven at 35 °C and then ground into powder...

The growing increase in groundwater (GW) salinization in the coastal aquifers has reached an alarming socio-economic menace in Saudi Arabia and various places globally due to several natural and anthropogenic activities. Hence, evaluating the GW salinization is paramount to safeguarding the water resources planning and management. This study presents three different scenarios viz.: real field investigation, experimental laboratory analysis (using ion chromatography (IC) and inductively coupled plasma mass spectrometry (ICP-MS), etc...

Nanocomposites containing clay nanoparticles often present favorable properties such as good mechanical and thermal properties. They frequently have been studied for tissue engineering (TE) and regenerative medicine applications. On the other hand, poly(glycerol sebacate) (PGS), a revolutionary bioelastomer, has exhibited substantial potential as a promising candidate for biomedical application. Here, we present a facile approach to synthesizing stiff, elastomeric nanocomposites from sodium-montmorillonite nano-clay (MMT) in the commercial name of Cloisite Na+ and poly(glycerol sebacate urethane) (PGSU)...

Christianson syndrome (CS), an X-linked neurological disorder characterized by postnatal attenuation of brain growth (postnatal microcephaly), is caused by mutations in SLC9A6 , the gene encoding endosomal Na+ /H+ exchanger 6 (NHE6). To hasten treatment development, we established induced pluripotent stem cell (iPSC) lines from patients with CS representing a mutational spectrum, as well as biologically related and isogenic control lines. We demonstrated that pathogenic mutations lead to loss of protein function by a variety of mechanisms: The majority of mutations caused loss of mRNA due to nonsense-mediated mRNA decay; however, a recurrent, missense mutation (the G383D mutation) had both loss-of-function and dominant-negative activities...

BACKGROUND: Low back pain is a very common musculoskeletal complaint that impacts patients' quality of life in numerous ways. Facet joint injection is a widely used spinal intervention to relieve back pain. Effects of facet joint injection on spinopelvic parameters and the relationship between injection levels and spinopelvic parameter changes have not been evaluated before. OBJECTIVE: To compare spinopelvic parameters before and after injections at different levels, and to evaluate the correlation between these changes and functional outcome...

Here we report heterologous expression, enzymatic characterization and structure homology modeling of a subtilisin-like alkaline serine protease (ASP) from Bacillus halodurans C-125. Encoding gene was successfully obtained by PCR and cloned into pMA0911 shuttle vector under the control of strong HpaII promoter and expressed extracellularly. ASP enzyme was successfully expressed in B. subtilis WB800 cell line lacking eight extracellular proteases and produced extracellularly in the culture medium. Km, Vmax and specific activity parameters of the recombinantly produced ASP were identified as 0...

INTRODUCTION: This study determined whether there is a difference in the nutritional status of children with good and poor appetites, as reported by their mothers. METHODS: In all, 70 volunteer mothers of children aged 6-60 months participated in the study. Information about the nutrition of the child was obtained from the mothers via a questionnaire. RESULTS: Based on the mothers' statements, no significant difference was found in the mean or median values of the anthropometric measurements between children with good and poor appetites (p>...

BACKGROUND: Percutaneous coronary intervention (PCI) of saphenous vein grafts (SVGs) is associated with an increased risk of complications, particularly no‑reflow phenomenon and distal embolization due to low patency rates. The CHA2DS2‑VASc score is a clinical risk stratification tool used to predict thromboembolism events especially in patients with nonvalvular atrial fibrillation. AIM: The aim of this study was to investigate the relationship between the CHA2DS2‑VASc score and no‑reflow phenomenon after SVG PCI in patients with non-ST‑segment elevation acute coronary syndromes (NSTE‑ACS)...

OBJECTIVE: Transcatheter aortic valve implantation (TAVI) is a good alternative to surgical aortic valve replacement (SAVR) in severe aortic stenosis patients who are at intermediate or high risk, or other cases that are considered unsuitable for SAVR. TAVI is most often performed on elderly patients, and although conventional risk scores include a number of comorbidities, they do not take into account functional decline specific to elderly patients. The prognostic nutritional index (PNI), which is a simple and effective parameter for both nutritional and inflammatory status, reflects functional decline in the elderly...

OBJECTIVE: The Google search engine is widely used as a source of medical information; however, legal and medical governance of the accuracy of the content retrieved is lacking. The aim of this study was to assess the most read Turkish-language texts related to cholesterol during a specific period according to the validity of the content. METHODS: Google Trends was queried on January 5, 2019 for the search term 'cholesterol' and the 9 other most popular search phrases used in Turkey that included the word cholesterol...

Background/aim: A proliferation-inducing ligand (APRIL) has been investigated as a prognostic marker in chronic lymphocytic leukemia (CLL) patients. However, there is no cut-off level for serum APRIL (sAPRIL) levels that predict time to treatment in CLL patients. Materials and methods: Between May and December 2012, 94 consecutive CLL patients and 25 healthy controls were assessed. sAPRIL levels were measured by ELISA. Demographic data and prognostic markers were obtained from the patients’ files...

In this study, we report for the first time the effect of prescribed fires on the export of dissolved organic matter (DOM) and precursors of disinfectant by-products (DBPs) from periodically (every 2-3 years) and seasonally (i.e., dormant and growing) burned forest fuel materials (i.e., live vegetation, woody debris, and detritus [litter and duff]) and treatability of its rainwater leachate. Periodically applied (every 2-3 years for 40 years) prescribed fires decreased total fuel load (62±10%), primarily detrital mass (75±2%)...

INTRODUCTION: In the present study, our aim was to ascertain the preoperative cardiac risk factors related to the in-hospital mortality in the elderly patients (aged over 65 years) who required preoperative cardiology consultation for hip fracture surgery. MATERIAL AND METHODS: The present study was a retrospective, single-centre study, which enrolled consecutive elderly patients without heart failure scheduled for hip fracture surgery in our institution. In all patients, an anesthesiologist performed a detailed preoperative evaluation and decided the need for the cardiac consultation...

An increasing number of studies have focussed on the neurobiology of schizophrenia (SCH), contributing to a better understanding of this disorder. Prolidase is a metalloprotease found in various tissues, which has been associated with the concentrations of proline, a neurotransmitter, in the brain. There is evidence to suggest that elevated proline levels play a role in SCH. The aim of the present study was to compare plasma proline levels in patients with drug-naive first-episode psychosis (FEP) and in those with SCH...

Effects of different nitrogen doses and sources applied as top-dressing on dry matter yield and quality of maize silage were investigated in this study. Along with 7.5 kg N da-1 application as starter at sowing in the form of 15-15-0+Zn, nitrogen doses of 0, 7.5, 15 and 22.5 kg da-1 were applied as top-dressing at 6-leaf stage of plants in the forms of ammonium nitrate, urea, DMPP blended ammonium sulphate nitrate and urea with NBPT urease inhibitor. Experiments were conducted in randomized blocks-factorial experimental design with 3 replicates in 2013 and 2014...

OBJECTIVES: Maintenance treatment with macrolide antibiotics has shown to be effective in reducing exacerbations in COPD patients. A major concern with prolonged treatment with antibiotics is the development of bacterial resistance. In this study we determined the effect of azithromycin on the development and acquisition of resistance to macrolides in the nasopharyngeal flora in COPD patients. METHODS: This study was part of the COLUMBUS trial, a randomised, double-blind, placebo-controlled trial to measure the effect of maintenance treatment with azithromycin in 92 COPD patients on the exacerbation rates during a 12-month period...

BACKGROUND: Intravenous recombinant enzyme replacement therapy (ERT) is currently available for 8 lysosomal diseases. Hypersensitivity reactions (HSRs) may be observed during this long-term treatment. OBJECTIVE: To evaluate the frequency and clinical treatment features of ERT HSRs and the management of desensitizations in children. METHODS: Medical records were reviewed retrospectively for patients who received ERT. Those who had experienced HSRs to ERT were included in the study...

In this work, we incorporated an ionic liquid (IL), 1-n-butyl-3-methylimidazolium methyl sulfate ([BMIM][MeSO4]) into two different metal organic frameworks (MOFs), UiO-66, and its amino-functionalized counterpart, NH2-UiO-66, to investigate the effects of ligand-functionalization on the thermal stability limits of IL/MOF composites. The as-synthesized IL/MOF composites were characterized in detail by combining X-ray diffraction (XRD), scanning electron microscopy (SEM), Brunauer-Emmett-Teller analysis (BET), X-ray fluorescence (XRF), infrared spectroscopies (FTIR), and their thermal stability limits were determined by thermogravimetric analysis (TGA)...

PURPOSE: At the time of writing, there is a pandemic affecting virtually every country on Earth. There is considerable discussion amongst clinicians as well as lay people about anosmia and ageusia in COVID-19 sufferers. We aimed to report the results from comprehensive olfactory and gustatory testing in a series of hospital in-patients. METHODS: The prospective study evaluated 81 individuals with a COVID-19 infection, as confirmed by 2019 n-cov Real-Time PCR laboratory testing...