Experimental Evidence of Long-Lived Electric Fields of Ionic Liquid Bilayers.

Herein we demonstrate that ionic liquids can form long-lived double layers, generating electric fields detectable by straightforward open circuit potential (OCP) measurements. In imidazolium-based ionic liquids an external negative voltage pulse leads to an exceedingly stable near-surface dipolar layer, whose field manifests as long-lived (∼1-100 h) discrete plateaus in OCP versus time traces. These plateaus occur within an ionic liquid-specific and sharp potential window, defining a simple experimental method to probe the onset of interfacial ordering phenomena, such as overscreening and crowding.

Analysis of vitamin D metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation.

Unlabelled: Infantile hypercalcemia (IH), is a rare disorder caused by CYP24A1 or SLC34A1 variants which lead to disturbed catabolism of 25(OH)D and 125(OH)D or increased generation of 125(OH)D.

Aim Of Study: To assess the status of 2425(OH)D and other markers of vitamin D in IH survivors, in whom variants of CYP24A1 or SLC34A1 gene were found and to compare these unique biochemical features with those obtained from subjects who were diagnosed in the first year of life with hypercalcemia, elevated 25(OH)D and low PTH but in whom neither CYP24A1 nor SLC34A1 variant was found.

Patients And Methods: 16 IH survivors in whom CYP24A1 (n = 13) or SLC34A1 (n = 3) variants were found and 41 subjects in whom hypercalcemia was diagnosed in the first year of life but in whom CYP24A1 or SLC34A1 variants were not found were included in the study.

Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.

Objectives: Although hearing loss is a well-known symptom of mitochondria-related disorders, it is not clear how often it is a congenital and cochlear impairment. The Newborn Hearing Screening Program (NHSP) enables to distinguish congenital cochlear deafness from an acquired hearing deficit. The initial aim of the study was to research the frequency of the congenital cochlear hearing loss among patients with various gene defects resulting in mitochondrial disorders.

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.

Introduction: Mutations in the TRPV4 gene are associated with neuromuscular disorders and skeletal dysplasias, which present a phenotypic overlap.

Methods: Next-generation sequencing and Sanger sequencing were used to analyze the TRPV4 gene.

Results: We present 2 Polish families with TRPV4-related disorder harboring the same p.

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1.

Trends in Two- and Three-Body Effects in Multiscale Clusters of Ionic Liquids.

Applications of higher correlated levels of ab initio theory to condensed systems require a significant amount of computational resources. The recent development of the fragment molecular orbital (FMO) approach alleviates this issue by splitting the system into individual fragments and achieves the accuracy of the method by accounting for all possible two-body and three-body interactions. In this work a comprehensive application of the FMO approach in combination with a second order of Møller-Plesset perturbation theory method, MP2, is presented for multiscale clusters of ionic liquids such as [Cmim]X, [Cmpyr]X, [Cpy]X, and [NMe]X, where X = chloride and tetrafluoroborates, BF, with the clusters varying in size from 4, 8, 16, to 32 ion pairs.

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Background: Whole-exome sequencing (WES) has led to an exponential increase in identification of causative variants in mitochondrial disorders (MD).

Methods: We performed WES in 113 MD suspected patients from Polish paediatric reference centre, in whom routine testing failed to identify a molecular defect. WES was performed using TruSeqExome enrichment, followed by variant prioritization, validation by Sanger sequencing, and segregation with the disease phenotype in the family.

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

Pyruvate dehydrogenase complex (PDHc) defect is a well-known cause of mitochondrial disorders (MD) with at least six responsible genes (PDHA1, PDHB, DLAT, DLD, PDHX, PDP1). The aim of this work was to assess the diagnostic value of biochemical methods in recognition of PDHc defect in Polish patients with suspicion of MD. In the first step, Western blot of the E1α subunit was performed on 86 archive muscle bioptates with suspicion of MD.

Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2.

Background: Glycogen synthase deficiency (glycogen storage disease 0 - GSD 0) caused by mutations in the GYS2 gene is characterized by a lack of glycogen synthesis in the liver. It is a rare condition of disturbed glycogen homeostasis in the liver with less than 30 cases reported in the literature so far.

Case Report: We report a 9 year old boy diagnosed with GSD 0 due to the newly identified, highly pathogenic homozygous mutation: NM_021957.

Coupling to a glioblastoma-directed antibody potentiates antitumor activity of curcumin.

Current therapies for glioblastoma are largely palliative, involving surgical resection followed by chemotherapy and radiation therapy, which yield serious side effects and very rarely produce complete recovery. Curcumin, a food component, blocked brain tumor formation but failed to eliminate established brain tumors in vivo, probably because of its poor bioavailability. In the glioblastoma GL261 cells, it suppressed the tumor-promoting proteins NF-κB, P-Akt1, vascular endothelial growth factor, cyclin D1 and BClXL and triggered cell death.