Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK

BACKGROUND: Whilst still rare, the incidence of paediatric stone disease is increasing in developed countries and it is important to evaluate the aetiology. We set up a dedicated renal stone service for children combining medical and surgical expertise in 1993 and now have a large case series of children to investigate the epidemiology. METHODS: A retrospective hospital note review of children presenting with kidney stones during the last 22 years (1993-2015) was conducted. All patients had a comprehensive infective and metabolic screen and were classified as metabolic, infective or idiopathic stone disease. RESULTS: Five hundred eleven patients (322 male) were reviewed. The median age of presentation was 4.4y for males (1 m-16.6y) and 7.3y (1-18.5y) for females with a median height and weight on the 25th centile for male and on 10th and 25th for female, respectively. One hundred seventy five (34%) had an underlying metabolic abnormality, 112 (22%) had infective stones and 224 (44%) were classified as idiopathic. Of the 175 patients with a metabolic abnormality: 91 (52%) had hypercalciuria (76 persistent and 15 transient), 37 (21%) hyperoxaluria, 38 (22%) cystinuria, 3 (2%) abnormalities in the purine metabolism and the remainder other metabolic abnormalities. Bilateral stones occurred in 27% of the metabolic group compared to 16% in the non-metabolic group (OR 0.2, p < 0.05). Urinary tract infection was a common complication (27%) in the metabolic group. CONCLUSIONS: In this paper, we present the largest cohort of paediatric stone disease reported from a developed country giving details on both, clinical and laboratory data. We show that in the majority of the patients there is an identifiable underlying metabolic and/or infective aetiology emphasizing the importance of a full work up to provide adequate treatment and prevent recurrence. Moreover, we show that stone disease in children, in contrast to the adult population, does not seem to be associated with obesity, as children have a weight below average at presentation

Two-fluid barotropic models for powder-snow avalanche flows

14 pages, 1 figure. Accepted to Springer series "Notes on Numerical Fluid Mechanics and Multidisciplinary Design". Other authors papers can be downloaded at http://www.lama.univ-savoie.fr/~dutykh/International audienceIn the present study we discuss several modeling issues of powder-snow avalanche flows. We take a two-fluid modeling paradigm. For the sake of simplicity, we will restrict our attention to barotropic equations. We begin the exposition by a compressible model with two velocities for each fluid. However, this model may become non-hyperbolic and thus, represents serious challenges for numerical methods. To overcome these issues, we derive a single velocity model as a result of a relaxation process. This model can be easily shown to be hyperbolic for any reasonable equation of state. Finally, an incompressible limit of this model is derived

Electromagnetic corrections in the anomaly sector

Chiral perturbation theory in the anomaly sector for $N_f=2$ is extended to include dynamical photons, thereby allowing a complete treatment of isospin breaking. A minimal set of independent chiral lagrangian terms is determined and the divergence structure is worked out. There are contributions from irreducible and also from reducible one-loop graphs, a feature of ChPT at order larger than four. The generating functional is non-anomalous at order $e^2p^4$, but not necessarily at higher order in $e^2$. Practical applications to $\gamma\pi\to\pi\pi$ and to the $\pi^0\to2\gamma$ amplitudes are considered. In the latter case, a complete discussion of the corrections beyond current algebra is presented including quark mass as well as electromagnetic effects.Comment: 26 pages, 3 figure

Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome

INTRODUCTION: Renal Fanconi syndrome describes a general dysfunction of the proximal tubules characterized by urinary losses of water, electrolytes, low-molecular weight proteins, aminoacids and glucose. The heterogeneity of its underlying causes has complicated the understanding of renal Fanconi syndrome for many years. Recent studies of its isolated form, only affecting the proximal tubule and no other nephron segments, allow new insights into the understanding of pathophysiology and development of disease models. AREAS COVERED: In this review, we discuss the most recent insights into pathophysiology of renal Fanconi syndrome as well as novel disease and potential developments of new therapeutic strategies. EXPERT OPINION: The importance of fatty acid oxidation in proximal tubules in human disease has just recently been established. So far this has not yet led to pharmaceutical development of medicines, due to lack of understanding of the exclusive use of fatty acids by mitochondria in the proximal tubule for energy generation. Nevertheless, novel insights have resulted in potential targets for development of new therapeutic strategies

A new experimental snow avalanche test site at Seehore peak in Aosta Valley (NW Italian Alps) - Part II: Engineering aspects

The estimate of the effects produced by the impact of a snow avalanche against an obstacle is of the utmost importance in designing safe mountain constructions. For this purpose, an ad-hoc instrumented obstacle was designed and built in order to measure impact forces of small and medium snow avalanches at Seehore peak (NW Italian Alps). The structural design had to consider several specific and unusual demands dictated by the difficult environment. In this article, the new test facility is described from the engineering point of view, discussing the most important aspects of the analyzed problems which were solved before and after the construction. The performance of the instrumented obstacle in the first two operating seasons, and some proposals for future upgrading are eventually illustrate

Odd-intrinsic-parity processes within the Resonance Effective Theory of QCD

We analyse the most general odd-intrinsic-parity effective Lagrangian of QCD valid for processes involving one pseudoscalar with vector mesons described in terms of antisymmetric tensor fields. Substantial information on the odd-intrinsic-parity couplings is obtained by constructing the vector-vector-pseudoscalar Green's three-point function, at leading order in 1/Nc, and demanding that its short-distance behaviour matches the corresponding OPE result. The QCD constraints thus enforced allow us to predict the decay amplitude omega -> pion gamma, and the O(p^6) corrections to pion -> gamma gamma. Noteworthy consequences concerning the vector meson dominance assumption in the decay omega -> 3 pions are also extracted from the previous analysis.Comment: 20 pages, 4 figure

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

Quantification of FAM20A in human milk and identification of calcium metabolism proteins

BACKGROUND: FAM20A, a recently discovered protein, is thought to have a fundamental role in inhibiting ectopic calcification. Several studies have demonstrated that variants of FAM20A are causative for the rare autosomal recessive disorder, enamel-renal syndrome (ERS). ERS is characterized by defective mineralization of dental enamel and nephrocalcinosis suggesting that FAM20A is an extracellular matrix protein, dysfunction of which causes calcification of the secretory epithelial tissues. FAM20A is a low-abundant protein that is difficult to detect in biofluids such as blood, saliva, and urine. Thus, we speculated the abundance of FAM20A to be high in human milk, since the secretory epithelium of lactating mammary tissue is involved in the secretion of highly concentrated calcium. Therefore, the primary aim of this research is to describe the processes/methodology taken to quantify FAM20A in human milk and identify other proteins involved in calcium metabolism. METHOD: This study used mass spectrometry-driven quantitative proteomics: (1) to quantify FAM20A in human milk of three women and (2) to identify proteins associated with calcium regulation by bioinformatic analyses on whole and milk fat globule membrane fractions. RESULTS: Shotgun MS/MS driven proteomics identified FAM20A in whole milk, and subsequent analysis using targeted proteomics also successfully quantified FAM20A in all samples. Combination of sample preparation, fractionation, and LC-MS/MS proteomics analysis generated 136 proteins previously undiscovered in human milk; 21 of these appear to be associated with calcium metabolism. CONCLUSION: Using mass spectrometry-driven proteomics, we successfully quantified FAM20A from transitional to mature milk and obtained a list of proteins involved in calcium metabolism. Furthermore, we show the value of using a combination of both shotgun and targeted driven proteomics for the identification of this low abundant protein in human milk

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