Genetic testing of patients with inherited kidney diseases has emerged as a tool of clinical utility by improving the patients' diagnosis, prognosis, surveillance and therapy. The present study applie Show more
Genetic testing of patients with inherited kidney diseases has emerged as a tool of clinical utility by improving the patients' diagnosis, prognosis, surveillance and therapy. The present study applied a Next Generation Sequencing (NGS)-based panel, named NephroPlex, testing 115 genes causing renal diseases, to 119 individuals, including 107 probands and 12 relatives. Thirty-five (poly)cystic and 72 non (poly)cystic individuals were enrolled. The latter subgroup of patients included Bardet-Biedl syndrome (BBS) patients, as major components. Disease-causing mutations were identified in 51.5 and 40% of polycystic and non-polycystic individuals, respectively. Autosomal dominant polycystic kidney disease (ADPKD) patients with truncating PKD1 variants showed a trend towards a greater slope of the age-estimated glomerular filtration rate (eGFR) regression line than patients with (i) missense variants, (ii) any PKD2 mutations and (iii) no detected mutations, according to previous findings. The analysis of BBS individuals showed a similar frequency of BBS4,9,10 and 12 mutations. Of note, all BBS4-mutated patients harbored the novel c.332+1G>GTT variant, which was absent in public databases, however, in our internal database, an additional heterozygote carrier was found. All BBS4-mutated individuals originated from the same geographical area encompassing the coastal provinces of Naples. In conclusion, these findings indicate the potential for a genetic panel to provide useful information at both clinical and epidemiological levels. Show less
The reactivity of ClN(3) with 17 negative ions has been investigated at 300 K. The electron affinity (EA) of ClN(3) was bracketed to be between that of NO(2) and N(3), giving EA(ClN(3)) = 2.48 +/- 0.2 Show more
The reactivity of ClN(3) with 17 negative ions has been investigated at 300 K. The electron affinity (EA) of ClN(3) was bracketed to be between that of NO(2) and N(3), giving EA(ClN(3)) = 2.48 +/- 0.20 eV, in agreement with an electronic structure calculation. Reaction rate constants and product ion branching ratios were measured. In nearly all cases the major product of the reaction was chloride ions. Charge transfer, N(3)(-) production, and O atom incorporation is also observed. DFT calculations of stable complexes and transition states are presented for two typical ions. Mechanistic details are discussed in terms of reaction coordinate diagrams. Show less
Electron attachment to chlorine azide (ClN(3)) was studied using a flowing-afterglow Langmuir-probe apparatus. Electron attachment rates were measured to be 3.5x10(-8) and 4.5x10(-8) cm(3) s(-1) at 29 Show more
Electron attachment to chlorine azide (ClN(3)) was studied using a flowing-afterglow Langmuir-probe apparatus. Electron attachment rates were measured to be 3.5x10(-8) and 4.5x10(-8) cm(3) s(-1) at 298 and 400 K, respectively, with an estimated 35% absolute accuracy. Cl(-) was the sole ion product of the attachment reaction; weak ion signals were observed for other anions and attributed to impurities and secondary ion-molecule reactions. Assuming a relative uncertainty of +/-10% for these data, an activation energy for the attachment reaction may be given as 24+/-10 meV. Show less