191 research outputs found
The design of avalanche protection dams : Recent practical and theoretical developments
This book discusses the design of dams and other protective measures in the run-out zones of wet- and dry-snow avalanches. It summarises recent theoretical developments and the results of field and laboratory studies, combining them with traditional design guidelines and principles to formulate design recommendations. Not discussed are hazard zoning, land use planning, evacuations, supporting structures in starting zones, snow fences in catchment areas, and other safety measures outside the run-out zone. Reinforcement of individual buildings also falls outside the scope of the book, as do protective measures against landslides and slushflows.European Comissio
Anomalies and WZW-term of two-flavour QCD
The U(2)_R x U(2)_L symmetry of QCD with two massless flavours is subject to
anomalies which affect correlation functions involving the singlet currents
A^0_\mu or V^0_\mu. These are relevant for pion-photon interactions, because -
for two flavours - the electromagnetic current contains a singlet piece. We
give the effective Lagrangian required for the corresponding low energy
analysis to next-to-leading order, without invoking an expansion in the mass of
the strange quark. In particular, the Wess-Zumino-Witten term that accounts for
the two-flavour anomalies within the effective theory is written down in closed
form.Comment: 17 pages, 1 figur
Mir-132/212 is required for maturation of binocular matching of orientation preference and depth perception
MicroRNAs (miRNAs) are known to mediate post-transcriptional gene regulation, but their role in postnatal brain development is still poorly explored. We show that the expression of many miRNAs is dramatically regulated during functional maturation of the mouse visual cortex with miR-132/212 family being one of the top upregulated miRNAs. Age-downregulated transcripts are significantly enriched in miR-132/miR-212 putative targets and in genes upregulated in miR-132/212 null mice. At a functional level, miR-132/212 deletion affects development of receptive fields of cortical neurons determining a specific impairment of binocular matching of orientation preference, but leaving orientation and direction selectivity unaltered. This deficit is associated with reduced depth perception in the visual cliff test. Deletion of miR-132/212 from forebrain excitatory neurons replicates the binocular matching deficits. Thus, miR-132/212 family shapes the age-dependent transcriptome of the visual cortex during a specific developmental window resulting in maturation of binocular cortical cells and depth perception
Common Trends and Common Cycles in Canada: Who Knew So Much Has Been Going On?
It is generally accepted that convergence is well established for regional Canadian per capita outputs. The authors present evidence that long-run movements are driven by two stochastic common trends in this time series. This evidence casts doubt on the convergence hypothesis for Canada. Another prevalent belief is that Canada forms an optimal currency area (OCA). The authors uncover three serially correlated common cycles whose asymmetries suggest Canada is not an OCA. Their common trend-common cycle decomposition of regional outputs also reveals that trend shocks dominate fluctuations in Ontario, Quebec, and the Maritimes in the short run and long run but not in British Columbia and the Prairie region. Thus, regional Canadian economic fluctuations are driven by a rich, diverse, and economically important set of propagation and growth mechanisms
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. We discover two previously unreported loci, NFKB1 (rs230540, OR = 1.25, P = 3.4 × 10-12) and IRF4 (rs9405192, OR = 1.29, P = 1.4 × 10-14), fine-map the PLA2R1 locus (rs17831251, OR = 2.25, P = 4.7 × 10-103) and report ancestry-specific effects of three classical HLA alleles: DRB1*1501 in East Asians (OR = 3.81, P = 2.0 × 10-49), DQA1*0501 in Europeans (OR = 2.88, P = 5.7 × 10-93), and DRB1*0301 in both ethnicities (OR = 3.50, P = 9.2 × 10-23 and OR = 3.39, P = 5.2 × 10-82, respectively). GWAS loci explain 32% of disease risk in East Asians and 25% in Europeans, and correctly re-classify 20-37% of the cases in validation cohorts that are antibody-negative by the serum anti-PLA2R ELISA diagnostic test. Our findings highlight an unusual genetic architecture of MN, with four loci and their interactions accounting for nearly one-third of the disease risk
Recent Developments in Chiral Perturbation Theory
I review recent developments in chiral perturbation theory (CHPT) which is
the effective field theory of the standard model below the chiral symmetry
breaking scale. The effective chiral Lagrangian formulated in terms of the
pseudoscalar Goldstone bosons () is briefly discussed. It
is shown how one can gain insight into the ratios of the light quark masses and
to what extent these statements are model--independent. A few selected topics
concerning the dynamics and interactions of the Goldstone bosons are
considered. These are and scattering, some non--leptonic kaon
decays and the problem of strong pionic final state interactions. CHPT also
allows to make precise statements about the temperature dependence of QCD Green
functions and the finite size effects related to the propagation of the
(almost) massless pseudoscalar mesons. A central topic is the inclusion of
matter fields, baryon CHPT. The relativistic and the heavy fermion formulation
of coupling the baryons to the Goldstone fields are discussed. As applications,
photo--nucleon processes, the --term and non--leptonic hyperon
decays are presented. Implications of the spontaneously broken chiral symmetry
on the nuclear forces and meson exchange currents are also described. Finally,
the use of effective field theory methods in the strongly coupled Higgs sector
and in the calculation of oblique electroweak corrections is touched upon.Comment: TeX, 110 pages, 15 figures available upon request, BUTP-93/0
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. We discover two previously unreported loci, NFKB1 (rs230540, OR = 1.25, P = 3.4 × 10-12) and IRF4 (rs9405192, OR = 1.29, P = 1.4 × 10-14), fine-map the PLA2R1 locus (rs17831251, OR = 2.25, P = 4.7 × 10-103) and report ancestry-specific effects of three classical HLA alleles: DRB1*1501 in East Asians (OR = 3.81, P = 2.0 × 10-49), DQA1*0501 in Europeans (OR = 2.88, P = 5.7 × 10-93), and DRB1*0301 in both ethnicities (OR = 3.50, P = 9.2 × 10-23 and OR = 3.39, P = 5.2 × 10-82, respectively). GWAS loci explain 32% of disease risk in East Asians and 25% in Europeans, and correctly re-classify 20-37% of the cases in validation cohorts that are antibody-negative by the serum anti-PLA2R ELISA diagnostic test. Our findings highlight an unusual genetic architecture of MN, with four loci and their interactions accounting for nearly one-third of the disease risk
Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic disorder. Whole-genome linkage analysis in five informative families identified a single significant locus on chromosome 16p13.2 (logarithm of odds score 6.5). Sequencing of the coding regions of all linked genes failed to identify biallelic mutations. Instead, we found in all patients a promoter mutation (c.-167G>T) in the phosphomannomutase 2 gene (PMM2), either homozygous or in trans with PMM2 coding mutations. PMM2 encodes a key enzyme in N-glycosylation. Abnormal glycosylation has been associated with PKD, and we found that deglycosylation in cultured pancreatic β cells altered insulin secretion. Recessive coding mutations in PMM2 cause congenital disorder of glycosylation type 1a (CDG1A), a devastating multisystem disorder with prominent neurologic involvement. Yet our patients did not exhibit the typical clinical or diagnostic features of CDG1A. In vitro, the PMM2 promoter mutation associated with decreased transcriptional activity in patient kidney cells and impaired binding of the transcription factor ZNF143. In silico analysis suggested an important role of ZNF143 for the formation of a chromatin loop including PMM2. We propose that the PMM2 promoter mutation alters tissue-specific chromatin loop formation, with consequent organ-specific deficiency of PMM2 leading to the restricted phenotype of HIPKD. Our findings extend the spectrum of genetic causes for both HI and PKD and provide insights into gene regulation and PMM2 pleiotropy
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