Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or generalised tonic-clonic seizures. Four independent loci have been implicated in FAME on chromosomes (chr) 2, 3, 5 and 8. Using whole genome sequencing and repeat primed PCR, we provide evidence that chr2-linked FAME (FAME2) is caused by an expansion of an ATTTC pentamer within the first intron of STARD7. The ATTTC expansions segregate in 158/158 individuals typically affected by FAME from 22 pedigrees including 16 previously reported families recruited worldwide. RNA sequencing from patient derived fibroblasts shows no accumulation of the AUUUU or AUUUC repeat sequences and STARD7 gene expression is not affected. These data, in combination with other genes bearing similar mutations that have been implicated in FAME, suggest ATTTC expansions may cause this disorder, irrespective of the genomic locus involvedSupplementary Information: Supplementary Data 1; Supplementary Data 2; Reporting Summary.NHMRC; Women’s and Children’s Hospital Research Foundation; Muir Maxwell Trust; Epilepsy Society; The European Fund for Regional Development; The province of Friesland, Dystonia Medical Research Foundation; Stichting Wetenschapsfonds Dystonie Vereniging; Fonds Psychische Gezondheid; Phelps Stichting; The Italian Ministry of Health; Istituto Superiore di Sanità, Italy; Undiagnosed Disease Network Italy; The Fondation maladies rares, University Hospital Essen and UK Department of Health’s NIHR.https://www.nature.com/ncommspm2020Neurolog

I veleni dell'aria. Fonti di energia alternative

Respirare può recare danno alla salute! Questa affermazione, assurda, rivela tutta la fragilità del nostro sistema sociale. Conoscere la realtà nei suoi aspetti qualitativi e quantitativi è il primo passo per poterla migliorare. L'inquinamento urbano, (ed ormai anche quello extra-urbano) è uno dei gravi attentati, subdoli e invisibili, alla vita di tutti. La ricerca chimica sta producendo uno sforzo, quasi esasperato, teso al riconoscimento degli inquinanti, al miglioramento dei processi chimici, anche industriali, e all'abbattimento dei veleni che circolano. L'uso smodato della mobilità privata e pubblica, per mezzo del motore a scoppio, è una delle principali sorgenti di inquinanti. In questo campo, del quale il libri si interessa, oltre all'intervento della chimica, urge un concerto ben orchestrato tra forze politiche, amministrative ed organizzazioni sanitarie, per raggiungere un livello d'informazione e convincimento, nella popolazione, sulla gravità del problema, tale da portare anche all'auto-limitazione dell'uso del motore a scoppio. Inquinamento e produzione di energia sono argomenti che non possono essere slegati. L'energia pulita e rinnovabile esiste; la volontà di realizzarla, no. Se continuiamo a dipendere dall'energia fossile, continueremo ad avere una politica economica nazionale deficitaria e dipendente da altri: nessuna legge finanziaria potrà sistemare la nostra economia fino a quando non ridurremo il nostro disavanzo energetico

On the antibacterial activity of roots of Capparis spinosa L.

none7A decoction of Capparis spinosa L. roots, widely used in the traditional folk medicine of southern Italy, was prepared and submitted to antibacterial activity tests, which showed an interesting bacteriostatic activity on the growth of Deinococcus radiophilus. Heterocyclic compounds were also recovered from the chloroformic extract of the roots.noneC. Boga; L. Forlani; R. Calienni; T. Hindley; A. Hochkoeppler; S. Tozzi; N. ZannaC. Boga; L. Forlani; R. Calienni; T. Hindley; A. Hochkoeppler; S. Tozzi; N. Zann

First isolation of a Wheland intermediate in the azo-coupling reaction, its X-ray crystal structure determination and products from its evolution

The reaction between tris(N-piperidinyl)benzene and 4-methoxybenzenediazonium tetrafluoroborate afforded a Wheland intermediate (W) that was isolated and crystallized at low temperature. This permitted to obtain, for the first time, the X-ray structure analysis of a s- complex in the diazo coupling reaction. In solution, W slowly evolves to the rearomatized product PH+ (as salt). The single crystal X-ray diffraction determination of the neutral azo compound P is also reported

Reactions of Hydroxypyridines with 1-Chloro-2,4,6-trinitrobenzene − Product Structure, Kinetics, and Tautomerism

Reactions between 1-chloro-2,4,6-trinitrobenzene and 2-hydroxypyridine, 3-hydroxypyridine, and 4-hydroxypyridine are reported. 4-Hydroxypyridine produces the product of attack at the nitrogen atom, while 3-hydroxypyridine reacts at the oxygen atom. 2-Hydroxypyridine reacts as an ambidentate nucleophile, providing a mixture of products arising from attack at both the oxygen and the nitrogen atom. Reactions between X-substituted-3-hydroxypyridines (X = H, 5-Cl, 6-CH3) and 1-chloro-2,4,6-trinitrobenzene provided 3-pyridinyl 2,4,6-trinitrophenyl ethers, analysed by H-1 and C-13 NMR spectra and by X-ray diffraction. Moderate heating of methanolic solutions of 3-pyridinyl 2,4,6-trinitrophenyl ether and of 6-methyl-3-pyridinyl 2,4,6-trinitrophenyl ether caused a methylation reaction of the pyridine nitrogen ring through trinitroanisole, providing 3-hydroxy-1-methylpyridinium picrate and 1,2-dimethyl-5-hydroxypyridinium picrate. Kinetic data are compared and discussed