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- 2019
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Journal article (peer-reviewed)
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| 2. |
- Zaniew, Marcin, et al.
(author)
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Long-term renal outcome in children with OCRL mutations : Retrospective analysis of a large international cohort
- 2018
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In: Nephrology Dialysis Transplantation. - : Oxford University Press (OUP). - 0931-0509 .- 1460-2385. ; 33:1, s. 85-94
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Journal article (peer-reviewed)abstract
- 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 m2, 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 (b0.46, 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.
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| 3. |
- Shvartzvald, Yossi, et al.
(author)
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Spitzer Microlensing Parallax for OGLE-2017-BLG-0896 Reveals a Counter-rotating Low-mass Brown Dwarf
- 2019
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In: Astronomical Journal. - : American Astronomical Society. - 0004-6256 .- 1538-3881. ; 157:3
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Journal article (peer-reviewed)abstract
- The kinematics of isolated brown dwarfs in the Galaxy, beyond the solar neighborhood, is virtually unknown. Microlensing has the potential to probe this hidden population, as it can measure both the mass and five of the six phase-space coordinates (all except the radial velocity) even of a dark isolated lens. However, the measurements of both the microlens-parallax and finite-source effects are needed in order to recover the full information. Here, we combine the Spitzer satellite parallax measurement with the ground-based light curve, which exhibits strong finite-source effects, of event OGLE-2017-BLG-0896. We find two degenerate solutions for the lens (due to the known satellite-parallax degeneracy), which are consistent with each other except for their proper motion. The lens is an isolated brown dwarf with a mass of either 18 +/- 1 M-J or 20 +/- 1 M-J. This is the lowest isolated-object mass measurement to date, only similar to 45% more massive than the theoretical deuterium-fusion boundary at solar metallicity, which is the common definition of a free-floating planet. The brown dwarf is located at either 3.9 +/- 0.1 kpc or 4.1 +/- 0.1 kpc toward the Galactic bulge, but with proper motion in the opposite direction of disk stars, with one solution suggesting it is moving within the Galactic plane. While it is possibly a halo brown dwarf, it might also represent a different, unknown population.
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