787 research outputs found
Glomerulopathy in patients with distal duplication of chromosome 6p
Background: Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a proteinuric glomerulopathy. Case presentation: Here, we report a 13-year-old girl with 6p25.3p22.1 duplication who presented with proteinuria in infancy, was later diagnosed as focal segmental glomerulosclerosis, progressed to end-stage renal disease and was successfully transplanted. Conclusion: A systematic literature review suggests that 15–20 % of individuals with distal 6p duplication develop progressive proteinuric glomerulopathy. Monitoring of kidney function should be recommended in all cases
Management of congenital nephrotic syndrome : consensus recommendations of the ERKNet-ESPN Working Group
Publisher Copyright: © 2021, The Author(s).Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders characterized by nephrotic-range proteinuria, hypoalbuminaemia and oedema, which manifest in utero or during the first 3 months of life. The main cause of CNS is genetic defects in podocytes; however, it can also be caused, in rare cases, by congenital infections or maternal allo-immune disease. Management of CNS is very challenging because patients are prone to severe complications, such as haemodynamic compromise, infections, thromboses, impaired growth and kidney failure. In this consensus statement, experts from the European Reference Network for Kidney Diseases (ERKNet) and the European Society for Paediatric Nephrology (ESPN) summarize the current evidence and present recommendations for the management of CNS, including the use of renin–angiotensin system inhibitors, diuretics, anticoagulation and infection prophylaxis. Therapeutic management should be adapted to the clinical severity of the condition with the aim of maintaining intravascular euvolaemia and adequate nutrition, while preventing complications and preserving central and peripheral vessels. We do not recommend performing routine early nephrectomies but suggest that they are considered in patients with severe complications despite optimal conservative treatment, and before transplantation in patients with persisting nephrotic syndrome and/or a WT1-dominant pathogenic variant.Peer reviewe
Exact solutions for diluted spin glasses and optimization problems
We study the low temperature properties of p-spin glass models with finite
connectivity and of some optimization problems. Using a one-step functional
replica symmetry breaking Ansatz we can solve exactly the saddle-point
equations for graphs with uniform connectivity. The resulting ground state
energy is in perfect agreement with numerical simulations. For fluctuating
connectivity graphs, the same Ansatz can be used in a variational way: For
p-spin models (known as p-XOR-SAT in computer science) it provides the exact
configurational entropy together with the dynamical and static critical
connectivities (for p=3, \gamma_d=0.818 and \gamma_s=0.918 resp.), whereas for
hard optimization problems like 3-SAT or Bicoloring it provides new upper
bounds for their critical thresholds (\gamma_c^{var}=4.396 and
\gamma_c^{var}=2.149 resp.).Comment: 4 pages, 1 figure, accepted for publication in PR
a global network of chronic kidney disease cohorts
Background Chronic kidney disease (CKD) is a global health burden, yet it is
still underrepresented within public health agendas in many countries. Studies
focusing on the natural history of CKD are challenging to design and conduct,
because of the long time-course of disease progression, a wide variation in
etiologies, and a large amount of clinical variability among individuals with
CKD. With the difference in health-related behaviors, healthcare delivery,
genetics, and environmental exposures, this variability is greater across
countries than within one locale and may not be captured effectively in a
single study. Methods Studies were invited to join the network. Prerequisites
for membership included: 1) observational designs with a priori hypotheses and
defined study objectives, patient-level information, prospective data
acquisition and collection of bio-samples, all focused on predialysis CKD
patients; 2) target sample sizes of 1,000 patients for adult cohorts and 300
for pediatric cohorts; and 3) minimum follow-up of three years. Participating
studies were surveyed regarding design, data, and biosample resources. Results
Twelve prospective cohort studies and two registries covering 21 countries
were included. Participants age ranges from >2 to >70 years at inclusion, CKD
severity ranges from stage 2 to stage 5. Patient data and biosamples (not
available in the registry studies) are measured yearly or biennially. Many
studies included multiple ethnicities; cohort size ranges from 400 to more
than 13,000 participants. Studies’ areas of emphasis all include but are not
limited to renal outcomes, such as progression to ESRD and death. Conclusions
iNET-CKD (International Network of CKD cohort studies) was established, to
promote collaborative research, foster exchange of expertise, and create
opportunities for research training. Participating studies have many
commonalities that will facilitate comparative research; however, we also
observed substantial differences. The diversity we observed across studies
within this network will be able to be leveraged to identify genetic,
behavioral, and health services factors associated with the course of CKD.
With an emerging infrastructure to facilitate interactions among the
investigators of iNET-CKD and a broadly defined research agenda, we are
confident that there will be great opportunity for productive collaborative
investigations involving cohorts of individuals with CKD
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population
Hereditary nephrotic syndrome is caused by mutations in a number of different genes, the most common being NPHS2. The aim of the study was to identify the spectrum of NPHS2 mutations in Polish patients with the disease. A total of 141 children with steroid-resistant nephrotic syndrome (SRNS) were enrolled in the study. Mutational analysis included the entire coding sequence and intron boundaries of the NPHS2 gene. Restriction fragment length polymorphism (RFLP) and TaqMan genotyping assay were applied to detect selected NPHS2 sequence variants in 575 population-matched controls. Twenty patients (14 %) had homozygous or compound heterozygous NPHS2 mutations, the most frequent being c.1032delT found in 11 children and p.R138Q found in four patients. Carriers of the c.1032delT allele were exclusively found in the Pomeranian (Kashubian) region, suggesting a founder effect origin. The 14 % NPHS2 gene mutation detection rate is similar to that observed in other populations. The heterogeneity of mutations detected in the studied group confirms the requirement of genetic testing the entire NPHS2 coding sequence in Polish patients, with the exception of Kashubs, who should be initially screened for the c.1032delT deletion
Nuclear dependence of the transverse single-spin asymmetry in the production of charged hadrons at forward rapidity in polarized , Al, and Au collisions at GeV
We report on the nuclear dependence of transverse single-spin asymmetries
(TSSAs) in the production of positively-charged hadrons in polarized
, Al and Au collisions at
GeV. The measurements have been performed at forward
rapidity () over the range of GeV and
. We observed a positive asymmetry for
positively-charged hadrons in \polpp collisions, and a significantly reduced
asymmetry in + collisions. These results reveal a nuclear
dependence of charged hadron in a regime where perturbative techniques
are relevant. These results provide new opportunities to use \polpA collisions
as a tool to investigate the rich phenomena behind TSSAs in hadronic collisions
and to use TSSA as a new handle in studying small-system collisions.Comment: 303 authors from 66 institutions, 9 pages, 2 figures, 1 table. v1 is
version accepted for publication in Physical Review Letters. Plain text data
tables for the points plotted in figures for this and previous PHENIX
publications are (or will be) publicly available at
http://www.phenix.bnl.gov/papers.htm
Measurements of double-helicity asymmetries in inclusive production in longitudinally polarized collisions at GeV
We report the double helicity asymmetry, , in inclusive
production at forward rapidity as a function of transverse momentum
and rapidity . The data analyzed were taken during
GeV longitudinally polarized collisions at the Relativistic Heavy Ion
Collider (RHIC) in the 2013 run using the PHENIX detector. At this collision
energy, particles are predominantly produced through gluon-gluon
scatterings, thus is sensitive to the gluon polarization
inside the proton. We measured by detecting the decay
daughter muon pairs within the PHENIX muon spectrometers in the
rapidity range . In this kinematic range, we measured the
to be ~(stat)~~(syst). The
can be expressed to be proportional to the product of the
gluon polarization distributions at two distinct ranges of Bjorken : one at
moderate range where recent RHIC data of jet and
double helicity spin asymmetries have shown evidence for significant gluon
polarization, and the other one covering the poorly known small- region . Thus our new results could be used to further
constrain the gluon polarization for .Comment: 335 authors, 10 pages, 4 figures, 3 tables, 2013 data. Version
accepted for publication by Phys. Rev. D. Plain text data tables for the
points plotted in figures for this and previous PHENIX publications are (or
will be) publicly available at http://www.phenix.bnl.gov/papers.htm
- …