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Background Low back pain (LBP) is one of the most common disorders, with many possible causes including intervertebral disc degeneration (IVDD) and Modic changes. In this study we aimed to analyze whether the distribution pattern of Modic changes in the vertebral end-plates was associated with the severity of IVDD. Methods We conducted a cross-sectional analysis of a retrospective database. Patients with constant LBP were evaluated in terms of IVDD and Modic changes on lumbar spine magnetic resonance imaging. Statistical analyses were specifically performed for the lower lumbar levels. Results We evaluated 527 patients. Modic changes were detected in 25% of the patients. Severe IVDD was detected in 90% and 88% of patients with Modic changes through the whole end-plates at L4-L5 and L5-S1 levels, respectively. Patients with Modic changes at L5-S1 level had significantly lower lumbar lordosis. Presence of severe IVDD at L4-L5 and L5-S1 levels was associated with 2.7- and 2.9-times higher risk of more widely distributed Modic changes in those vertebral end-plates, respectively. Conclusions Severe IVDD was significantly more common in patients with Modic changes through the whole end-plate and in those with Modic type I changes.

Strict low-phenylalanine diet is associated with an increased risk of developing micronutrient deficiencies in patients with phenylketonuria (PKU). The primary objective of this single-center, case-control study was to assess the nutritional parameters of patients with PKU on strict low-phenylalanine diet without vitamin and mineral supplementation compared to a healthy control group. Secondary objective was to identify the adequacy of vitamin/mineral supplementation in phenylalanine-free (Phe-free) amino acid formulas.A total of 112 age- and sex-matched patients with PKU and 36 controls who did not take vitamin or mineral supplementation at least for the last 6 months were enrolled in the study. Biochemical and hematological markers including hemoglobin, serum vitamin B12, folic acid, iron, ferritin, transferrin saturation, copper, prealbumin, albumin, total protein, phosphorus, calcium, 25-hydroxy vitamin D, zinc, vitamin A and vitamin E levels were screened from fasting morning blood samples.One hundred and twelve patients with classical PKU (53 females, 47.3%) and 36 healthy controls (18 females, 50.0%) were enrolled in the study. The mean age of patients with PKU was 136.8 ± 82.1 months (18-377). Median serum vitamin B12 level of patients with PKU was found to be higher than the control group (p = 0.002). Vitamin B12 deficiency was 15.2% and 30.6% in patients with PKU and healthy controls, respectively (p = 0.040). Mean serum folic acid level was higher in patients with PKU than the control group (p 0.0001). In 55.4% of patients with PKU, and 2.8% of the control group, serum folic acid level was above the reference range (p 0.0001). The frequency of ferritin and prealbumin values above the reference range was found to be higher in patients with PKU compared to the control group (44.4% vs 16.9%, p = 0.001; 38.8% vs 22.1%, p = 0.020, respectively). 25-Hydroxy vitamin D deficiency was detected in 53.6% and 47.2% of patients with PKU and the control group, respectively. Mean serum copper level was higher in the well-controlled (114.3 ± 26.7 μg/dL) group than the poorly controlled group (101.0 ± 29.1 μg/dL) (p = 0.022).Phe-free amino acid formulas provide adequate vitamin A and zinc levels in patients with PKU, and result in excess folic acid, vitamin B12, copper and vitamin E values that are higher than required levels. Our results demonstrate a high percentage of vitamin D deficiency in patients with classical PKU and also in healthy controls in Turkey.

Of the cold pressed edible oils, grape seed oil (GSO) is one of the highest quality and, consequently the most expensive oil. Because of that, adulteration by mixing GSOs up with lower price edible oils is frequently seen. The classification and determination of adulterant concentration for GSO is hence a focus of great interest. The aim of this study was to investigate the feasibility of ATR–MIR spectroscopy coupled with the multivariate methodology for qualitative and quantitative analyses of cold pressed GSO adulteration with refined soybean oil (SBO), by using characteristic wavenumber regions. Thirty three pure oils and ninety six blends were analyzed using ATR–MIR spectroscopy in combination with PCA, LDA, SIMCA and PLSR analysis. SIMCA models provided an excellent classification for pure GSO and other samples. The classification limits by ATR–MIR spectroscopy was also below 5%. Quantitative analyses were performed by minimization of RMSE of cross-validation values, which resulted in excellent predictions (R2 > 0.99). The prediction parameters for the sample sets were: the RMSEC were in the range 0.59–2.09% and, RMSECV were in the range 0.92–5.60%, hence on the basis of the PLSR models, quantification of adulterant could be determined at levels

Purpose Ketogenic diet (KD) is an effective non-pharmacological treatment for drug-resistant epilepsy. The aim of this study was to investigate the efficacy, tolerability and complications of olive oil-based KD in epileptic children. Method In this single-center, prospective study, patients were followed up at 1, 3, 6 and 12 months after KD initiation. Initially, blood ketone levels were measured daily, and as needed thereafter to maintain the levels between 4 and 5 mmol/L. Patient demographics, seizure frequency, serum biochemistry, abdominal ultrasonography and adverse effects were recorded. Efficacy of KD was defined as ≥50% seizure reduction. Results A total of 389 patients with drug-resistant epilepsy receiving KD from 2012 to 2016 were included. One hundred patients (25.7%) stopped the diet for different reasons in the first year, and 369, 314, 225 and 160 patients have been receiving KD treatment for 1, 3, 6 and 12 months, respectively. At 1, 3, 6 and 12th months, 65.8% (243/369), 74.7% (235/314), 70.6% (159/225) and 83.1% (133/160) of the patients were responders, respectively. None of the children had an increased seizure-frequency. Hyperlipidemia (50.8%), selenium deficiency (26.9%), constipation (26.2%), sleep disturbances (20.0%), nephrolithiasis (3.0%), hyperuricemia (3.0) and hepatic side effects (2.6%) were the most common complications of KD. Previous adrenocorticotropic hormone (ACTH) use due to epileptic encephalopathy and presence of constipation at baseline or during KD treatment were found the predictors of treatment efficacy. Conclusion KD is an effective and well-tolerated treatment option for patients with drug-resistant epilepsy. Previous history of ACTH use and constipation during KD treatment are important factors that affect the efficacy of KD treatment.

Metabolites like lipids, amino acids or peptides can affect the immune system. Citrulline is an amino acid that activates several inflammatory pathways. Serum citrulline levels are markedly elevated in hereditary citrullinemia type 1 (CTLN1), and cases with CTLN1 have have been described with inflammatory lesions of the central nervous system (CNS). This suggests the presence of a relatively proinflammatory state in CTLN1. We therefore tested sera of CTLN1 patients for anti-myelin oligodendrocyte glycoprotein (MOG) antibodies which are a frequent cause of inflammatory CNS disorders in young patients. Patients with CTLN1 (n = 15) and control groups consisting of phenylketonuria (n = 22), juvenile idiopathic arthritis (n = 13), pediatric onset systemic lupus erythematosus (n = 17) and healthy controls (n = 48) were tested for serum anti-MOG IgG and anti-MOG IgG1 antibodies in a live-cell based assay. Serum citrulline levels were elevated in 14/15 CTLN1 patients at the time of the study. No clear anti-MOG IgG positivity was detected in any of the CTLN1 or control groups. One CTLN1 and one healthy control case with anti-MOG IgG titers close to borderline were also tested for MOG-specific IgG1, with similar results. These findings did not support the role of elevated serum citrulline levels in facilitating antibody response against MOG. Other pathways that can be investigated in CTLN1 include lymphocytic responses against neural antigens or any direct effects of citrulline on neural tissue.

Herein, a rhodamine based nanosensor platform (RHD–NPs) was designed and prepared for the sensing of Hg2+ in the near–perfect aqueous medium (v/v, 0.01/99.99, acetone/water). The structure, aqueous stability, surface charge and particle size of RHD–NPs were analyzed by using zeta particle sizer, scanning electron microscopy (SEM) and UV–Vis spectrophotometry. The spherical shaped morphology of RHD–NPs has 61.4 nm particule size. The interaction ability of RHD–NPs towards various heavy metal ions was evaluated with UV–Vis and fluorescence spectroscopies. After the transferring of Hg2+ to RHD–NPs, a new absorption band at 562 nm was observed due to the ring–opening mechanism of rhodamine structure. The remarkable emission enhancement at 582 nm was observed through the adding of Hg2+ because of chelation–enhanced fluorescence (CHEF) and aggregation–induced enhanced emission (AIEE) phenomena. RHD–NPs nanosensor system showed good selectivity for Hg2+ monitoring with a nanomolar–level detection limit of 6.56 nM. The binding constant of RHD–NPs with Hg2+ was determined to be 10.06 × 103 M−1 based on the Benesi–Hildebrand graph and a maximum value of Job’s graph was about 0.5 ratio (1:1) between RHD–NPs and Hg2+.The smartphone–based technique revealed an outstanding potential of the RHD–NPs platform for the sensing of Hg2+ without further device. A visual colorimetric strip based on papers with excellent selectivity towards Hg2+ without interfering competition ions, was produced with the white–to–pink color signal change. The RHD–NPs was also employed for the quantitative determination and real–time monitoring of Hg2+ in real samples.

In the present study, the design of a novel turn–on fluorescent probe ((E)–5–methoxy–4–((thiazol–2–ylimino)methyl)benzene–1,3–diol) (TBD) was reported. TBD showed an excellent fluorogenic response (λex = 420 nm, λem = 530 nm) to sense Zn2+ in HEPES buffer/ MeCN (5/95, v/v; pH = 7.4) media. The quantum (Φ) yield of the probe TBD increased importantly with Zn2+ and was calculated for TBD (Φ = 0.073) and TBD–Zn2+ complex (Φ = 0.78). The LOD and binding constant (Ka) of TBD were 1.29 nM and 1.102 × 106 M−1, respectively. The sensing process of TBD toward Zn2+ (1:1) was verified by the Job's plot, MALDI–TOF–MS, and 1H NMR titration studies. The ''off–on'' fluorogenic response of TBD was qualified to the photo–induced electron transfer (PET) process. The experimental outcomes were also verified by theoretical DFT studies. Furthermore, TBD had been successfully utilized to detect Zn2+ in food supplement products, drinkable water samples and living–cells for on–site analysis.

Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase (HGD) as a result of a defect in the HGD gene. HGD enzyme deficiency results in accumulation of homogentisic acid (HGA) in the body, which in turn leads to multisystemic clinical symptoms. The present study aimed to investigate the presenting symptoms, age at diagnosis, and clinical and genetic characteristics of AKU patients followed-up in different centers in Turkey. In this cross-sectional, multicenter, descriptive study, medical records of 66 AKU patients were retrospectively evaluated. Patients’ data regarding demographic, clinical and genetic characteristics were recorded. HGD database ( http://hgddatabase.cvtisr.sk/ ) was used to identify HGD gene variants. Of the patients, 37 (56.1%) presented with isolated dark urine and 29 (43.9%) were diagnosed based on the clinical symptoms or family screening. One of these patients was on follow-up for 2 years due to Parkinsonism and was diagnosed with AKU on further analyses. Signs of ochronosis such as joint pain, low back pain and renal stones developed in childhood in 7 patients. Eight patients were diagnosed with depression via psychiatric evaluation. There were 14 (21.2%) patients operated on for ochronosis. The most frequent mutation observed in the patients was c.175delA, which was followed by c.674G > A and c.1007-2A > T mutations. Four novel mutations (c.189G > A, c.549+1G > T, c.1188+1G > A, and c.334 T > G) were identified in the patients included in the study. In addition to the known signs such as dark urine and skin pigmentation, symptoms involving different systems such as neurological findings and depression can also be encountered in AKU patients. The presence of a change in urine color needs to be questioned in patients presenting with different symptoms such as arthralgia/arthritis, renal stones or low-back pain, particularly in childhood, when skin ochronosis is not pronounced, and further examination should be performed.

Herein, an easy assembled colorimetric and ''turn–on'' fluorescent sensor (probe P4SC) based on phenolphthalein was developed for carbonate ion (CO32−) sensing in a mixture of EtOH/H2O (v/v, 80/20, pH = 7, Britton–Robinson buffer) media. The probe P4SC demonstrated high sensitive and selective monitoring toward CO32− over other competitive anions. Interaction of CO32− with the probe P4SC resulted in a significant increment in emission intensity at λem = 498 nm (λex = 384 nm) due to the strategy of blocking the photo induced electron transfer (PET) mechanism. 1H NMR titration and Job's methods, as well as the theoretical study were carried out to support the probable stoichiometry of the reaction (1:2) between P4SC and CO32−. The binding constant of the probe P4SC with CO32− was calculated as 2.56 × 1010 M−2. The probe P4SC providing rapid response time (~0.5 min) with a satisfactorily low detection limit (14.7 nM) may be useful as a valuable realistic sensor. The imaging studies on the liver cancer cells (HepG2) shows the great potential of the probe P4SC for the sensation of intracellular CO32− anions. Furthermore, the satisfactory recovery and RSD values obtained for water application confirming that the probe P4SC could be applied to sensing of CO32− ion.

Acid Ceramidase Deficiency (Farber disease, FD) is an ultra-rare Lysosomal Storage Disorder that is poorly understood and often misdiagnosed as Juvenile Idiopathic Arthritis (JIA). Hallmarks of FD are accumulation of ceramides, widespread macrophage infiltration, splenomegaly, and lymphocytosis. The cytokines involved in this abnormal hematopoietic state are unknown. There are dozens of ceramide species and derivatives, but the specific ones that accumulate in FD have not been investigated. We used a multiplex assay to analyze cytokines and mass spectrometry to analyze ceramides in plasma from patients and mice with FD, controls, Farber patients treated by hematopoietic stem cell transplantation (HSCT), JIA patients, and patients with Gaucher disease. KC, MIP-1 alpha, and MCP-1 were sequentially upregulated in plasma from FD mice. MCP-1, IL-10, IL-6, IL-12, and VEGF levels were elevated in plasma from Farber patients but not in control or JIA patients. C16-Ceramide (C16-Cer) and dhC16-Cer were upregulated in plasma from FD mice. a-OH-C18-Cer, dhC12-Cer, dhC24:1-Cer, and C22:1-Cer-1P accumulated in plasma from patients with FD. Most cytokines and only a-OH-C18-Cer returned to baseline levels in HSCT-treated Farber patients. Sphingosines were not altered. Chitotriosidase activity was also relatively low. A unique cytokine and ceramide profile was seen in the plasma of Farber patients that was not observed in plasma from HSCT-treated Farber patients, JIA patients, or Gaucher patients. The cytokine profile can potentially be used to prevent misdiagnosis of Farber as JIA and to monitor the response to treatment. Further understanding of why these signaling molecules and lipids are elevated can lead to better understanding of the etiology and pathophysiology of FD and inform development of future treatments. (C) 2016 Elsevier B.V. All rights reserved.

Purpose Long-term ketogenic diet (KD) treatment has been shown to induce liver steatosis and gallstone formation in some in vivo and clinical studies. The aim of this retrospective study was to evaluate the hepatic side effects of KD in epileptic children. Method A total of 141 patients (mean age: 7.1±4.1years [2–18 years], 45.4% girls), receiving KD at least one year for intractable epilepsy due to different diagnoses (congenital brain defects, GLUT-1 deficiency, West syndrome, tuberous sclerosis, hypoxic brain injury, etc.) were included in the study. Serum triglyceride, cholesterol, aminotransferase, bilirubin, protein and albumin levels and abdominal ultrasonography were recorded before and at 1, 3, 6, and 12 months following after diet initiation. Results The mean duration of KD was 15.9±4.3months. At one month of therapy, three patients had elevated alanine and aspartate aminotransferase levels. These patients were receiving ketogenic diet for Doose syndrome, idiopathic epilepsy and GLUT-1 deficiency. Hepatosteatosis was detected in three patients at 6 months of treatment. Two of these patients were treated with KD for the primary diagnosis of tuberous sclerosis and one for Landau Kleffner syndrome. Cholelithiasis was detected in two patients at 12 months of treatment. They were receiving treatment for West syndrome and hypoxic brain injury sequelae. Conclusion Long-term ketogenic diet treatment stimulates liver parenchymal injury, hepatic steatosis and gallstone formation. Patients should be monitored by screening liver enzymes and abdominal ultrasonography in order to detect these side effects.

In this study, 3,3-bis(4-hydroxy-3-((E)-((4-hydroxyphenyl)imino)methyl) phenyl)isobenzofuran-1(3H)-one (HMBP) was designed as a ‘’turn-on″ fluorogenic chemosensor to detect Al3+. Studies were performed in C2H5OH-HEPES (v/v, 9/1, pH 7.0) media at λem = 475 nm. The LOD value was found to be 0.113 µM. The stoichiometric ratio of HMBP-Al3+ was determined as 1:2 by Job's plot and ESI-MS as well as 1H NMR titration. The binding constant of chemosensor HMBP with Al3+ from the Benesi-Hildebrand equation was determined to be 1.21 × 108 M−1. The quantum (Φ) yields were obtained as 0.040 and 0.775 for the chemosensor HMBP and HMBP-Al3+, respectively. The response of the chemosensor HMBP towards Al3+ was attributed to the strategies of blocking the photo-induced electron transfer (PET) and C N isomerisation mechanisms. Finally, the sensing of the chemosensor HMBP for the determination of Al3+ in real food samples, drinking waters and herbal teas, were employed.

Herein, we have reported a feasibility study of highly selective and sensitive fluorogenic chemosensor (probe TOCT) derived from tetraoxacalix [2] arene [2] triazine for Fe3+ sensing in aqueous media. The probe TOCT has been fabricated and verified by 1H–NMR, HR–LCMS,FT–IRand 13C–NMR. The sensing properties of probe TOCT toward various metal ions were confirmed by fluorescence titration study as well as competitive study. The intensity of probe TOCT reduced with the amount of Fe3+ when it was excited at 300 nm in CH3CN:H2O (95/5, v/v, pH = 7) media. The probe demonstrated a ‘turn–off’ response toward Fe3+, in the presence of possible competing ions. The detection limit value of probe TOCT for Fe3+ sensing was computed to be 12.5 nM. The possible molecular structure of complex between probe TOCT and Fe3+ was also proposed on the basis of HR–LCMS and FT–IR. The stoichiometry of TOCT–Fe3+ complex was identified to be 1:1 to the methodology of Job's plot. The binding ability was studied through the equation of Benesi–Hildebrand which was computed to be 8.90 × 104 M–1 for Fe3+. To support the intensity enhancement and quenching studies, we reported computational experiments based on the density functional theory (DFT). Moreover, a great potential has been detected for probe TOCT as a fluorescent chemosensor in biological applications to monitor Fe3+ in living cells.

15th Annual Research Meeting of the WORLDSymposium(TM) -- FEB 04-07, 2019 -- Orlando, FL WOS: 000457351700338 … WORLDSymposium