Genetic profile of a large Spanish cohort with hypercalcemia

IntroductionThe disorders in the metabolism of calcium can present with manifestations that strongly suggest their diagnosis; however, most of the time, the symptoms with which they are expressed are nonspecific or present only as a laboratory finding, usually hypercalcemia. Because many of these disorders have a genetic etiology, in the present study, we sequenced a selection of 55 genes encoding the principal proteins involved in the regulation of calcium metabolism.MethodsA cohort of 79 patients with hypercalcemia were analyzed by next-generation sequencing.ResultsThe 30% of our cohort presented one pathogenic or likely pathogenic variant in genes associated with hypercalcemia. We confirmed the clinical diagnosis of 17 patients with hypocalciuric hypercalcemia (pathogenic or likely pathogenic variants in the CASR and AP2S1 genes), one patient with neonatal hyperparathyroidism (homozygous pathogenic variant in the CASR gene), and another patient with infantile hypercalcemia (two pathogenic variants in compound heterozygous state in the CYP24A1 gene). However, we also found variants in genes associated with primary hyperparathyroidism (GCM2), renal hypophosphatemia with or without rickets (SLC34A1, SLC34A3, SLC9A3R1, VDR, and CYP27B1), DiGeorge syndrome (TBX1 and NEBL), and hypophosphatasia (ALPL). Our genetic study revealed 11 novel variants.ConclusionsOur study demonstrates the importance of genetic analysis through massive sequencing to obtain a clinical diagnosis of certainty. The identification of patients with a genetic cause is important for the appropriate treatment and identification of family members at risk of the disease

Increased soluble phosphorus loads to Lake Erie: unintended consequences of conservation practices?

Cumulative daily load time series show that the early 2000s marked a step-change increase in riverine soluble reactive phosphorus (SRP) loads entering the Western Lake Erie Basin from three major tributaries: the Maumee, Sandusky, and Raisin Rivers. These elevated SRP loads have been sustained over the last 12 yr. Empirical regression models were used to estimate the contributions from (i) increased runoff from changing weather and precipitation patterns and (ii) increased SRP delivery (the combined effects of increased source availability and/or increased transport efficiency of labile phosphorus [P] fractions). Approximately 65% of the SRP load increase after 2002 was attributable to increased SRP delivery, with higher runoff volumes accounting for the remaining 35%. Increased SRP delivery occurred concomitantly with declining watershed P budgets. However, within these watersheds, there have been long-term, largescale changes in land management: reduced tillage to minimize erosion and particulate P loss, and increased tile drainage to improve field operations and profitability. These practices can inadvertently increase labile P fractions at the soil surface and transmission of soluble P via subsurface drainage. Our findings suggest that changes in agricultural practices, including some conservation practices designed to reduce erosion and particulate P transport, may have had unintended, cumulative, and converging impacts contributing to the increased SRP loads, reaching a critical threshold around 2002

Heliantho Splendidissimo Hēliō suo, Celsiori Item Celso, Imperial. Academ. Leopoldin. Praesidi Ac Directori, Phosphorus S. Prolixo animo paucissima haec, aliaq[ue] consecrat ...

Vorlageform des Erscheinungsvermerks: WITTENBERGÆ, Charact. MATTHÆI HENCKELII, Acad. Typogr. ANNO M DC XC

Microcystin Production by Microcystis aeruginosa in a

continuous culture. MC (MC-LR, MC-RR, and MC-YR) from lyophilized M. aeruginosa were extracted with 5% acetic acid, purified by a Sep-Pak C 18 cartridge, and then analyzed by high-performance liquid chromatography with a UV detector and Nucleosil C 18 reverse-phase column. The specific growth rate (�) ofM. aeruginosa was within the range of 0.1 to 0.8/day and was a function of the cellular P content under a P limitation. The N/P atomic ratio of steady-state cells in a P-limited medium varied from 24 to 15 with an increasing �. The MC-LR and MC-RR contents on a dry weight basis were highest at � of 0.1/day at 339 and 774 �g g �1, respectively, while MC-YR was not detected. The MC content of M. aeruginosa was higher at a lower �, whereas the MC-producing rate was linearly proportional to �. The C fixation rate at an ambient irradiance (160 microeinsteins m �2 s �1) increased with �. The ratios of the MC-producing rate to the C fixation rate were higher at a lower �. Accordingly, the growth of M. aeruginosa was reduced under a P limitation due to a low C fixation rate, whereas the MC content was higher. Consequently, increases in the MC content per dry weight along with the production of the more toxic form, MC-LR, were observed under more P-limited conditions. The bloom of cyanobacterium Microcystis aeruginosa is a ubiquitous phenomenon in eutrophic lakes and reservoirs in many countries of the world. Many strains of Microcystis ar

Book of abstracts.

bitstream/item/193581/1/CNPS-DOC-205-2019.epubTechnical editor: Vinicius de Melo Benites