Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort

BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies. METHODS: Retrospective analyses were conducted of clinical and genetic data in a cohort of 106 boys (LS: 88 and DD2: 18). For genotype-phenotype analysis, we grouped mutations according to their type and localization. To investigate progression of CKD we used survival analysis by Kaplan-Meier method using stage 3 CKD as the end-point. RESULTS: Median estimated glomerular filtration rate (eGFR) was lower in the LS group compared with DD2 (58.8 versus 87.4 mL/min/1.73 m(2), P < 0.01). CKD stage II-V was found in 82% of patients, of these 58% and 28% had moderate-to-severe CKD in LS and DD2, respectively. Three patients (3%), all with LS, developed stage 5 of CKD. Survival analysis showed that LS was also associated with a faster CKD progression than DD2 (P < 0.01). On multivariate analysis, eGFR was dependent only on age (b = -0.46, P < 0.001). Localization, but not type of mutations, tended to correlate with eGFR. There was also no significant association between presence of nephrocalcinosis, hypercalciuria, proteinuria and number of adverse clinical events and CKD. CONCLUSIONS: CKD is commonly found in children with OCRL mutations. CKD progression was strongly related to the underlying diagnosis but did not associate with clinical parameters, such as nephrocalcinosis or proteinuria

Fitocenozy ze znaczącym udziałem Deschampsia caespitosa (L.) P. Beauv.

Basic studies were conducted in the Notec Bystra valley at the Biała - Radolin - Radolinek section, in the vegetation season in 2012, and supplementary studies, mainly site studies, were conducted in 2014. In terms of the administrative division this area is located in the northern part of the Wielkopolskie province in the Czarnków-Trzcianka county. Analyses were carried out on seventeen phytocenoses with a marked dominance of tufted hairgrass (Deschampsia caespitosa (L.) P. Beauv.). In the floristic composition native species were predominant, accounting for 92.72%, of which 70.91% were apophytes and 21.81% - spontaneophytes. Alien species (kenophytes and archeophytes) were relatively scarce and accounted for 7.28%. Analysed phytocenoses in the plant community are characterized by a medium floristic diversity, defined by the calculated Shannon-Wiener index H’ = 2.7. In turn, the nature value index was 2.16. Fodder value was low, with yields of hay at 3.2 - 4.2 (t ha-1) and fodder value score Fvs = 3.9.Badania zasadnicze przeprowadzono w dolinie Noteci Bystrej na odcinku Biała - Radolin - Radolinek, w sezonie wegetacyjnym w 2012, a uzupełniające, głównie siedliskowe, w 2014 r. Pod względem administracyjnym obszar ten jest położony w północnej części województwa wielkopolskiego, w powiecie czarnkowsko-trzcianeckim. Przeanalizowano siędemnaście płatów z widoczną dominacją śmiałka darniowego. (Deschampsia caespitosa (L.) P. Beauv.). W składzie florystycznym przeważają gatunki rodzimego pochodzenia, które stanowią 92,72% z czego 70,91% to apofity, a 21,81% - spontaneofity. Gatunki obcego pochodzenia (kenofity i archeofity) występują stosunkowo nielicznie i stanowią 7,28%. Analizowane płaty zbiorowiska odznaczają się średnią różnorodnoscią florystyczną, która charakteryzuje obliczony wskaźnik Shannona- Wienera wynoszący H’ = 2,7. Natomiast wskaźnik waloryzacji przyrodniczej wynosi 2,16. Wartość paszowa jest niska, plony siana kształtują się na poziomie 3,2 - 4,2 (t ha-1), a wartość użytkowa (Lwu = 3,9)

Walory przyrodniczo-użytkowe zbiorowisk trawiasto-turzycowych w dolinie Noteci na obszarze Natura 2000

Studies aiming at the evaluation of nature and fodder value of grass-sedge communities were conducted in the years 2009-2013 in the Natura 2000 area in the Noteć Leniwa and Bystra valley on meadows with varied moisture and trophic conditions. They showed that a significant effect on the formation of grass communities, their richness and floristic diversity, as well as nature and agricultural value is exerted by moisture conditions resulting from habitat mosaic and management intensity. Most analysed communities of considerable nature value have mediocre productivity value, providing yields (d.m.) of 1.6 - 14.6 t. ha-1. Their fodder value score FVS ranged from 1.1 to 7.4, while the calculated floristic diversity (H’) was varied and ranged from 1.2 to 4.2. Some of the communities are barren land.Badania walorów przyrodniczych i użytkowych zbiorowisk trawiastych i szuwarowych przeprowadzone w latach 2009-2013, na obszarze Natura 2000 w dolinie Noteci Leniwej i Bystrej, na łąkach o zróżnicowanych warunkach wilgotnościowych i troficznych. Dotyczyły one walorów przyrodniczych i użytkowych. Wykazały one, że na wykształcanie się zbiorowisk trawiastych, ich bogactwo i różnorodność florystyczną, walory przyrodnicze oraz rolnicze, istotny wpływ ma przede wszystkim uwilgotnienie, które wynika z mozaikowatości siedlisk, i intensywność użytkowania. Większość cennych przyrodniczo zbiorowisk posiada mierną wartość gospodarczą i wartość użytkową Lwu wynosząca od 1,1 do 7,4, a niektóre są nieużytkami. Wyliczona różnorodność florystyczna (H’) jest zróżnicowana i wynosi od 1,2 do 4,2, a uzyskiwane plony s.m. wynoszą od 1,6 do 14,6 t. ha-1. Celem pracy była ocena walorów przyrodniczych i użytkowych zbiorowisk trawiasto-turzycowych dolinie Noteci na obszarze Natura 2000 na odcinku Białośliwie- Radolinek na obszarze Natura 2000

Preparation of Biocompatible, Luminescent-Plasmonic Core/Shell Nanomaterials Based on Lanthanide and Gold Nanoparticles Exhibiting SERS Effects

Multifunctional core/shell type nanomaterials composed of nanocrystalline, lanthanide doped fluorides and gold nanoparticles (Au NPs) were successfully prepared. The products were synthesized to combine luminescence properties of the core NPs, i.e., LnF₃/SiO₂–NH₂ and KLn₃F₁₀/SiO₂–NH₂, and plasmonic activity of the shell Au NPs within a single nanomaterial. The luminescent lanthanide NPs (10 or 150–200 nm) were separated from the gold NPs (6–30 nm) using an amine modified silica shell (thickness ≈30 nm). The synthesized products exhibited bright green (Tb³⁺) and red (Eu³⁺) emission under UV light irradiation. Surface modification with Au NPs influenced the product emission and luminescence decay characteristics. The luminescent-plasmonic nanomaterials were used as platforms for surface enhanced Raman scattering (SERS) measurements. 4-Mercaptobenzoic acid, choline, and T4 bacteriophages were utilized as SERS probes. For all synthesized nanomaterials, the SERS spectra for all probes studied exhibited higher intensity in comparison with the spectra measured using a commercial SERS substrate. Cytotoxicity of the products was evaluated in fibroblast cells. The results obtained showed biocompatibility of the synthesized nanomaterials in a dose-dependent manner