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

Polyolefins filled with waste rigid polyurethane foam and compatibilized by solid-state shear pulverization during extrusion

Polietylen małej gęstości (PE-LD) i polietylen dużej gęstości (PE-HD) oraz ich mieszaninę w stosunku 1:1, a także polipropylen (PP) napełniono odpadami rozdrobnionej sztywnej pianki poliuretanowo-poliizocyjanurowej (PUR-PIR) w ilości do 40 % mas. Składniki kompozycji homogenizowano za pomocą dwuwalcarki, a następnie, po zgranulowaniu, poddawano dodatkowej homogenizacji metodą pulweryzacji ścinaniem w stanie stałym (S3P – solid-state shear pulverization) podczas wytłaczania. Próbki do badań porównawczych formowano metodą wtryskiwania. Oceniano zmiany budowy chemicznej (metodą FT-IR), właściwości mechanicznych (próba rozciągania, udarność), właściwości reologicznych (MFR) oraz termicznych (temperatura mięknienia) badanych kompozycji. Stwierdzono, że pulweryzacja wpływa korzystnie na właściwości otrzymanych układów.Low density polyethylene (PE-LD), high density polyethylene (PE-HD), PE-LD/PE-HD blend at aratio of 1:1, and polypropylene (PP) were filled with finely-ground waste of rigid polyurethane-polyisocyanurate (PUR-PIR) foam in an amount up to 40 wt %. The components were homogenized with two-roll-mill and then, after granulation, subjected to additional homogenization using the method of solid-state shear pulverization (so-called S3P process) during extrusion. The specimens for comparative studies were obtained by injection molding. The changes in chemical structure (using FT-IR spectroscopy), mechanical properties (tensile and impact tests), rheological properties (MFR, rotational rheometry), and thermal properties (Vicat temperature) of the investigated compositions were determined. It was found that the pulverization has afavorable effect on the characteristics of the examined systems, although the improvement is not significant and clearly depends on the type of matrix polymer and foam content

Polyolefins filled with waste rigid polyurethane foam and compatibilized by solid-state shear pulverization during extrusion

Polietylen małej gęstości (PE-LD) i polietylen dużej gęstości (PE-HD) oraz ich mieszaninę w stosunku 1:1, a także polipropylen (PP) napełniono odpadami rozdrobnionej sztywnej pianki poliuretanowo-poliizocyjanurowej (PUR-PIR) w ilości do 40 % mas. Składniki kompozycji homogenizowano za pomocą dwuwalcarki, a następnie, po zgranulowaniu, poddawano dodatkowej homogenizacji metodą pulweryzacji ścinaniem w stanie stałym (S3P – solid-state shear pulverization) podczas wytłaczania. Próbki do badań porównawczych formowano metodą wtryskiwania. Oceniano zmiany budowy chemicznej (metodą FT-IR), właściwości mechanicznych (próba rozciągania, udarność), właściwości reologicznych (MFR) oraz termicznych (temperatura mięknienia) badanych kompozycji. Stwierdzono, że pulweryzacja wpływa korzystnie na właściwości otrzymanych układów.Low density polyethylene (PE-LD), high density polyethylene (PE-HD), PE-LD/PE-HD blend at aratio of 1:1, and polypropylene (PP) were filled with finely-ground waste of rigid polyurethane-polyisocyanurate (PUR-PIR) foam in an amount up to 40 wt %. The components were homogenized with two-roll-mill and then, after granulation, subjected to additional homogenization using the method of solid-state shear pulverization (so-called S3P process) during extrusion. The specimens for comparative studies were obtained by injection molding. The changes in chemical structure (using FT-IR spectroscopy), mechanical properties (tensile and impact tests), rheological properties (MFR, rotational rheometry), and thermal properties (Vicat temperature) of the investigated compositions were determined. It was found that the pulverization has afavorable effect on the characteristics of the examined systems, although the improvement is not significant and clearly depends on the type of matrix polymer and foam content