Intramedullary lipoma of the cervico-thoracic spinal cord

Most of the spinal cord lipomas reported in the literature are intradural extramedullary, and true intramedullary lipomas are very rare. We present a case of intramedullary spinal cord lipoma of the cervico-thoracic region with extensions over many spinal segments. Magnetic resonance (MR) examination showed an intramedullary lipoma of the cervico-thoracic spinal cord of both high T1 and T2-weighted signal intensity and suppression on fat saturation sequence. MR imaging assessment is critical in the detection of intramedullary lipomas which may present without any neurological deficit at an early stage. Early diagnosis may lead to prevention of the irreversible deterioration of neurological functions

Predicting the health impact of lowering salt consumption in Turkey using the DYNAMO health impact assessment tool

Objective To estimate the impact of three daily salt consumption scenarios on the prevalence and incidence of ischaemic heart disease (IHD) and cerebrovascular disease in 2025 in the Turkish population aged ≥30 years using the DYNAMO Health Impact Assessment tool. Study design Statistical disease modelling study. Methods DYNAMO health impact assessment was populated using data from Turkey to estimate the prevalence and incidence of IHD and cerebrovascular disease in 2025. TurkSTAT data were used for demographic data, and national surveys were used for salt consumption and disease-specific burden. Three salt consumption scenarios were modelled: (1) reference scenario: mean salt consumption stays the same from 2012–2013 until 2025; (2) gradual decline: daily salt intake reduces steadily by 0.47 g per year by lowering salt intake from bread by 50% and from table salt by 40% by 2025; and (3) World Health Organization (WHO) advice: daily salt intake of 5 g per day from 2013 until 2025. Results The gradual decline scenario would lead to a decrease in the prevalence of IHD and cerebrovascular disease by 0.3% and 0.2%, respectively, and a decrease in the incidence by 0.6 and 0.4 per 1000, respectively. Following WHO's advice would lead to a decrease in the prevalence of IHD and cerebrovascular disease by 0.8% and 0.5%, respectively, and a decrease in the incidence by 1.0 and 0.7 per 1000, respectively. Conclusion This model indicates that Turkey can lower its future cardiovascular disease burden by following the gradual decline scenario. Following WHO's advice would achieve an even greater benefit.</p

Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity

Galactosemia is a carbohydrate metabolism disorder often caused by galactose-1-phosphate uridyl transferase (GALT) deficiency. Detecting GALT deficiency involves measuring intra-erythrocyte enzyme activity. We aimed to create a robust liquid chromatography-mass spectrometry (LC-MS/MS) method to assess GALT activity in dried blood spot (DBS) samples. We validated this method and compared it to the fluorometric approach. We investigated the impact of K2EDTA and lithium heparin tubes on enzyme activity to identify the best sample collection tube. We also assessed the reaction-stopping method. The developed approach employed [13C6]-galactose-1-phosphate as a substrate and UDP-N-acetylglycosamine as an internal standard (IS). The mean ± SD value for GALT activity of DBS samples was determined as 6.37 ± 1.96 μmol/gHb/hour. The linear range was 0.4–50 μM (2.4–310% of normal) in the DBS method. The % coefficient of variation (%CV) values were less than 15 for intra-day and inter-day repeatability studies. Over 90% recovery was achieved in recovery studies, and no ion suppression from matrix was detected. DBS samples were quite stable for 31 days under different storage conditions. Enzyme activity results reported as 3.5 U/g Hb by fluorometric method, were quantitatively determined for even very low concentrations by LC-MS/MS method. © 2023 Elsevier Inc.This project was funded by the Ege University Research Fund (Project Number TTU-2019-20812 ).Ege Üniversitesi: TTU-2019-2081