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

GC-MS analysis of steroids and triterpenoids occurring in leaves and tubers of Tamus edulis Lowe

Tamus edulis Lowe is an endemic perennial plant belonging to Dioscoreaceae family. The plant has long climbing stems, ovate leaves, flowers in spikes, fleshy red berries and long tuberous roots. Young shoots and tuberous roots of T. edulis were used traditionally for nourishment and as a herbal medicine. Leaves and roots analyzed in the present study were collected in the northwest of Madeira island. The GC–MS analysis allowed to detect several steroids in free forms in diethyl ether extracts; and diosgenin with its isomer, yamogenin, in hydrolyzates from methanolic extracts.The obtained results reveal that Tamus edulis has some features common with other Dioscorea species, e.g., the presence of steroidal saponins with diosgenin and yamogenin as aglycones, or the phytosterol composition with predominating sitosterol. However, some other traits, like the relatively high content of free steroids (more than 1 mg/g d.w.) and their profile rich in cholesterol derivatives, can distinguish Tamus edulis from other Dioscorea species studied previously for their steroid and triterpenoid profile.info:eu-repo/semantics/publishedVersio

Frontal aslant tract projections to the inferior frontal gyrus

Background: Frontal aslant tract (FAT) is a white matter bundle connecting the pre-supplementary motor area (pre-SMA) and the supplementary motor area (SMA) with the inferior frontal gyrus (IFG). The purpose of the present study was to evaluate the anatomical variability of FAT. Materials and methods: Total number of fibres and the lateralisation index (LI) were calculated. We attempted to find factors contributing to the diversity of FAT regarding IFG terminations to the pars opercularis (IFG-Op) and to the pars triangularis (IFG-Tr). Magnetic resonance imaging of adult patients with diffusion tensor imaging (DTI) with total number of 98 hemispheres composed a cohort. V-shaped operculum was the most common (60.5%). Results: Total number of FAT fibres had widespread and unimodal distribution (6 to 1765; median: 160). Left lateralisation was noted in 64.3% of cases and was positively correlated with total number of FAT fibres and the bundle projecting to IFG-Op (p &lt; 0.01). LI correlated with total number of FAT fibres (r = 0.43, p &lt; 0.01). FAT projected predominantly to IFG-Op (88.9%; 88 of 99). Only in 3 (3.1%) cases more fibres terminated in IFG-Tr than in IFG-Op. Total number of FAT fibres and number of fibres terminating at IFG-Op did not correlate with the ratio of fibre numbers: FAT/IFG-Op, FAT/IFG-Tr and IFG-Op/IFG-Tr (p &gt; 0.05). The greater total number of fibres to IFG-Tr was, the higher were the ratios of IFG-Tr/ /FAT (r = 0.57, p &lt; 0.01) and IFG-Tr/IFG-Op (r = 0.32, p = 0.04). Conclusions: Among the IFG, the major termination of FAT is IFG-Op. Whereas the IFG-Tr projection seems to be related to the expansion of the entire FAT bundle regardless of side, domination and handedness. Nevertheless, FAT features a significant anatomical variability which cannot be explained in terms of DTI findings