Pappashermansen4401

cted by copyright. All rights reserved.We report a new family of five-coordinate Lanthanide Single-Molecule Magnets (Ln SMMs) [Dy(Mes*O) 2 (THF) 2 X] (Mes*= 2,4,6-tri-tert-butylphenyl; X = Cl, 1 ; Br, 2 ; I, 3 ) with energy barriers to magnetic reversal amongst the highest reported for any SMM to date. The five-coordinate Dy(III) ions have distorted square pyramidal geometries, with halide anions on the apex, and two Mes*O ligands mutually trans- to each other, and the two THF molecules forming the second trans- pair. These geometrical features lead to a large magnetic anisotropy in these complexes giving Orbach energy barriers above 1200 K. QTM and Raman relaxation times are significantly enhanced by varying the apex halide from Cl to Br to I, or by simple dilution in a diamagnetic yttrium analogue. © 2020 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.Congenital disorders of glycosylation (CDG) represent a wide range of >140 inherited metabolic diseases, continually expanding not only with regards to the number of newly identified causative genes, but also the heterogeneity of the clinical and molecular presentations within each subtype. The deficiency of ATP6AP1, an accessory subunit of the vacuolar H+ -ATPase, is a recently characterised N- and O-glycosylation defect manifesting with immunodeficiency, hepatopathy and cognitive impairment. At the cellular level, the latest studies demonstrate a complex disturbance of metabolomics involving peroxisomal function and lipid homeostasis in the patients. Our study delineates a case of two severely affected siblings with a new hemizygous variant c.221T>C (p.L74P) in ATP6AP1 gene, who both died due to liver failure before reaching 1 year of age. We bring novel pathobiochemical observations including the finding of increased reactive oxygen species in the cultured fibroblasts from the older boy, a striking copper accumulation in his liver, as well as describe the impact of the mutation on the protein in different organs, showing a tissue-specific pattern of ATP6AP1 level and its posttranslational modification. © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.In this study, we developed a trans-valve left ventricular assist device(LVAD) that unites a rear-impeller axial flow blood pump(AFBP) and a polymer membrane valve placed at the aortic valve position. The diameter and length of the rear impeller AFBP was 12 mm and 63 mm respectively. see more The polymer membrane valve was similar to the jelly-fish valve consisting of a valve leaflet made of silicon rubber(thickness 0.5 mm), valve ring (diameter25 mm) and valve spokes. The trans-valve LVAD was examined in a mock circulation. An implantable pulsatile flow (PF) VAD was connected to an atrial reservoir to simulate the left ventricle, and the Hall valve was worn in the inflow port, and the trans-valve LVAD was placed in the outflow port as an outflow valve. When the motor rotational speed to 26400 rpm, the mean aortic flow increases from 4.2 L/min to 5.3 L/min , mean aortic pressure increased from 83.4 mmHg to 100 mmHg, and mean motor current of the implantable PF VAD decreased from 1.18 A to 0.94 A (unloading effect on left ventricle -21%). The energy equivalent pressure (EEP) increased from 85.2 mmHg to 102 mmHg, and surplus hemodynamic energy (SHE) decreased by -15.4% from the baseline. In conclusion, the trans-valve LVAD has an advantage of preserving pulsatility without any complicated mechanism and is a novel and promising LV support device. This article is protected by copyright. All rights reserved.An artificial sphincter is a device that replaces the function of the biological sphincter by occluding the relative biological lumen. The investigation of occlusion methods for artificial sphincters is crucial for a reliable and effective design of such devices. The compression induced onto the tissue by a certain pressure depends on the biomechanical and physiological features of the lumen and on the specific occlusion method. A numerical model and an experimental evaluation are presented here to assess the efficiency of different occlusion methods. Numerical models of circumferential occlusion and clamping occlusion methods to simulate the compression of the biological lumen were developed. Results revealed a relationship between the efficiency of the occlusion method and the physiological condition of the lumen. With differences related to the testing setup, this relationship was also confirmed experimentally by conducting tests on biological simulators. We analyzed the occlusion method to adopt as the physiological pressure (ie, leakage pressure values) changed. In particular, we focused on the urinary incontinence, which is a dysfunction involving the external sphincter surrounding the urethra. In this scenario, we demonstrated that a clamping occlusion is an efficient method to compress the urethra, whose physiological pressures range between 4 and 12 kPa. The clamping occlusion method resulted up to 35% more efficient in terms of sealing pressure than the circumferential one for a closing pressure varying between 2.3 and 11.5 kPa. © 2020 International Center for Artificial Organs and Transplantation and Wiley Periodicals, Inc.Newborn screening (NBS) programs utilize information on a variety of clinical variables such as gestational age, sex and birth weight to reduce false-positive screens for inborn metabolic disorders. Here we study the influence of ethnicity on metabolic marker levels in a diverse newborn population. NBS data from screen-negative singleton babies (n = 100 000) were analyzed, which included blood metabolic markers measured by tandem mass spectrometry and ethnicity status reported by the parents. Metabolic marker levels were compared between major ethnic groups (Asian, Black, Hispanic, White) using effect size analysis, which controlled for group size differences and influence from clinical variables. Marker level differences found between ethnic groups were correlated to NBS data from 2532 false-positive cases for four metabolic diseases glutaric acidemia type 1 (GA-1), methylmalonic acidemia (MMA), ornithine transcarbamylase deficiency (OTCD), and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). In result, 79% of the metabolic markers (34 of 43) had ethnicity-related differences.