Search Results (5)

We describe the complex case of a 44-year-old man with polycystic kidney disease, mild cognitive impairment, and tremors in the upper limbs. Brain MRI showed lesions compatible with leukodystrophy. The diagnostic process, which included clinical exome sequencing (CES) and chromosomal microarray analysis (CMA), revealed a triple diagnosis: autosomal dominant polycystic kidney disease (ADPKD) due to a pathogenic variant, c.2152C>T-p.(Gln718Ter), in the PKD1 gene; late-onset phenylketonuria due to the presence of two missense variants, c.842C>T-p.(Pro281Leu) and c.143T>C-p.(Leu48Ser) in the PAH gene; and a 915 Kb duplication on chromosome 15. Few patients with multiple concurrent genetic diagnoses are reported in the literature; in this ADPKD patient, genome-wide analysis allowed for the diagnosis of adult-onset phenylketonuria (which would have otherwise gone unnoticed) and a 15q11.2 duplication responsible for cognitive and behavioral impairment with incomplete penetrance. This case underlines the importance of clinical genetics for interpreting complex results obtained by genome-wide techniques, and for diagnosing concurrent late-onset monogenic conditions. Full article

Quartz from La Sassa (Tuscany, Italy) presents a unique luminescence related to intrinsic and extrinsic defects in the crystal lattice due to the growth mechanisms in hydrothermal conditions. The bright fluorescence under the UV lamp was apparent to collectors since the early 1970s, and it entered the literature as a reference case of yellow-luminescent quartz. Early reports present the history of the discovery, the geological context, and preliminary luminescence measurements of the quartz nodules, suggesting various activators as potentially responsible of the peculiar luminescence effects: uranyl groups (UO₂²⁺), rare earths (Tb³⁺, Eu³⁺, Dy³⁺, Sm³⁺, Ce³⁺) and polycyclic aromatic compounds (PAH). Here, we report a full investigation of the La Sassa material, by a multi-analytical approach encompassing cathodoluminescence optical microscopy (OM-CL), laser-induced fluorescence (LIF), wavelength resolved thermally stimulated luminescence (WR-TSL), trace elements analysis by mass spectrometry (ICP-MS) and Raman spectroscopy (RS). The results provide a significant step forward in the interpretation of the luminescence mechanisms: the main luminescent centres are identified as alkali-compensated (mainly Li⁺ and Na⁺, K⁺ and H⁺) aluminum [AlO₄/M⁺]⁰ centres substituting for Si, where the recombination of a self-trapped exciton (STE) or an electron at a nonbridging oxygen hole centre (NBOHC) are active. Full article

Cyperus esculentus is widely representing one of the important oil crops around the world, which provides valuable resources of edible tubers called tiger nut. The chemical composition and high ability to produce fats emphasize the role of tiger nut in promoting oil crop productivity. However, the underlying molecular mechanism of the production and accumulation of lipids in tiger nut development still remains unclear. Here, we conducted comprehensive transcriptomics and lipidomics analyses at different developmental stages of tuber in Cyperus esculentus. Lipidomic analyses confirmed that the accumulation of lipids including glycolipids, phospholipids, and glycerides were significantly enriched during tuber development from early to mature stage. The proportion of phosphatidylcholines (PC) declined during all stages and phosphatidyl ethanolamine (PE) was significantly declined in early and middle stages. These findings implied that PC is actively involved in triacylglycerol (TAG) biosynthesis during the tubers development, whereas PE may participate in TAG metabolism during early and middle stages. Comparative transcriptomics analyses indicated several genomic and metabolic pathways associated with lipid metabolism during tuber development in tiger nut. The Pearson correlation analysis showed that TAG synthesis in different developmental stages was attributed to 37 candidate transcripts including CePAH1. The up-regulation of diacylglycerol (DAG) and oil content in yeast, resulted from the inducible expression of exogenous CePAH1 confirmed the central role of this candidate gene in lipid metabolism. Our results demonstrated the foundation of an integrative metabolic model for understanding the molecular mechanism of tuber development in tiger nut, in which lipid biosynthesis plays a central role. Full article

Thirty-one batches of commercial charcoal from various regions of Poland and Germany were tested for the presence of 20 toxic elements and polycyclic aromatic hydrocarbons (PAHs) using gas chromatography-mass spectrometry (GC-MS). Elements that are toxic to living organisms were determined using atomic absorption spectroscopy (AAS). They were classified as elements representing a very high degree of hazard (As, Cd, Cu, Hg, and Pb), high degree of hazard (Zn, Ba, Cr, Mn, and Mo), moderate degree of hazard (Co, Ni, Sn, and Te), and a low degree of hazard for living organisms and the environment (Ag, Bi, Ce, Se, Sr, and Zr). In regard to the most toxic elements, the highest concentration in the whole tested material was recorded for Cu. In addition, considerable amounts of Ba, Mn, and Sr, i.e., elements representing a high or moderate degree of hazard, were found in the tested charcoals. Moreover, all charcoals contained a wide range of PAHs, from naphthalene to benzo(ghi)perylene, with concentrations in a range between 12.55 and 3554.11 ng/g charcoal. In total, 25 unsubstituted PAHs were identified in the charcoal extracts. PAHs distributions were dominated by five-ring PAHs. The results indicate high carcinogenicity with ∑PAHcarc/∑PAHtot close to 1, as well as high TEQ and MEQ values. Thus, prolonged exposure to charcoal and charcoal dust might cause serious health problems. This applies to employees actively involved in the production and transport of charcoal and, to a lesser extent, users of this fuel. Full article

In this work, the treatment of bio-treated coking wastewater (BCW) by catalytic ozonation was conducted in semi-batch and continuous flow reactors. The kinetics of chemical oxygen demand (COD) removal were analyzed using BCWs from five coking plants. An integral reactor with catalytic ozonation stacked by ozone absorption (IR) was developed, and its efficiency was studied. The catalyst of Mn_xCe_1-xO₂/γ-Al₂O₃ was efficient in the catalytic ozonation process for the treatment of various BCWs. The chemical oxygen demand (COD) removal efficiencies after 120 min reaction were 64–74%. The overall apparent reaction rate constants were 0.0101–0.0117 min⁻¹, which has no obvious relationship with the initial COD of BCW and pre-treatment biological process. The IR demonstrated the highest efficiency due to the enhancement of mass transfer and the utilization efficiency of ozone. Bypass internal circulation can further improve the reactor efficiency. The optimal results were obtained with the ozone absorption section accounting for 19% of the valid water depth in the reactor and 250% of circulation flow ratio. The long-term and full-scale application of the novel reactor in a continuous mode indicated stable removal of COD and polycyclic aromatic hydrocarbons (PAHs). The results showed that the system of IR is a promising reactor type for tertiary treatment of coking wastewater by catalytic ozonation. Full article