Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report

<p>Abstract</p> <p>Introduction</p> <p>Dent's disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. To the best of our knowledge, this is only the third report on the use of growth hormone therapy in a child with poor growth associated with Dent's disease.</p> <p>Case presentation</p> <p>We report on a 7-year-old Montenegrin boy with proteinuria, hypercalciuria, nephrocalcinosis, rickets and short stature with unimpaired growth hormone secretion. A molecular genetic analysis showed S244L substitution on the CLCN5 gene. After two years of conventional treatment with hydrochlorothiazide, laboratory tests revealed more prominent proteinuria, mild hypophosphatemia, increased values of alkaline phosphatase and features of rickets. Phosphate salts, calcitriol, potassium citrate and growth hormone were included in the therapy. After three years of therapy, his adjusted parental stature was 1.53 standard deviations higher than at the initiation of growth hormone therapy. His global kidney functions and levels of proteinuria and calciuria remained relatively stable. In spite of the growth hormone therapy, his tubular reabsorption of phosphate deteriorated.</p> <p>Conclusion</p> <p>Treatment with recombinant human growth hormone may have a positive effect on final height in poorly growing children with Dent's disease and hypophosphatemic rickets. However, it is not possible to reach definite conclusions due to the small sample within the literature and the brief duration of the therapy.</p

Two-Particle-Self-Consistent Approach for the Hubbard Model

Even at weak to intermediate coupling, the Hubbard model poses a formidable challenge. In two dimensions in particular, standard methods such as the Random Phase Approximation are no longer valid since they predict a finite temperature antiferromagnetic phase transition prohibited by the Mermin-Wagner theorem. The Two-Particle-Self-Consistent (TPSC) approach satisfies that theorem as well as particle conservation, the Pauli principle, the local moment and local charge sum rules. The self-energy formula does not assume a Migdal theorem. There is consistency between one- and two-particle quantities. Internal accuracy checks allow one to test the limits of validity of TPSC. Here I present a pedagogical review of TPSC along with a short summary of existing results and two case studies: a) the opening of a pseudogap in two dimensions when the correlation length is larger than the thermal de Broglie wavelength, and b) the conditions for the appearance of d-wave superconductivity in the two-dimensional Hubbard model.Comment: Chapter in "Theoretical methods for Strongly Correlated Systems", Edited by A. Avella and F. Mancini, Springer Verlag, (2011) 55 pages. Misprint in Eq.(23) corrected (thanks D. Bergeron

The influence of foot geometry on the calcaneal osteotomy angle based on two-dimensional static force analyses

Background: Malalignment of the hindfoot can be corrected with a calcaneal osteotomy (CO). A well-selected osteotomy angle in the sagittal plane will reduce the shear force in the osteotomy plane while walking. The purpose was to determine the presence of a relationship between the foot geometry and loading of the calcaneus, which influences the choice of the preferred CO angle. Methods A static free body force analysis was made of the posterior calcaneal fragment in the second half of the stance phase to determine the main loads: the plantar apeunorosis (PA) and Achilles tendon (AT). The third load is on the osteotomy surface which should be oriented such that the shear component of the force is zero. The force direction of the PA and AT was measured on 58 MRIs of the foot, and the force ratio between both structures was taken from the literature. In addition the PA-to-AT force ratio was estimated for different foot geometries to identify the relationship. Results: Based on the wish to minimize the shear force during walking, a mean CO angle was determined to be 33º (SD8) relative to the foot sole. In pes planus foot geometry, the angle should be higher than the mean. In pes cavus foot geometry, the angle should be smaller. Conclusion: Foot geometry, in particular the relative foot heights is a determinant for the individual angle in performing the sliding calcaneal osteotomy. It is recommended to take into account the foot geometry (arch) when deciding on the CO angle for hindfoot correction.Biomechanical EngineeringMechanical, Maritime and Materials Engineerin

Natural infection by the protozoan Leptomonas wallacei impacts the morphology, physiology, reproduction, and lifespan of the insect Oncopeltus fasciatus

Trypanosomatids are protozoan parasites that infect thousands of globally dispersed hosts, potentially affecting their physiology. Several species of trypanosomatids are commonly found in phytophagous insects. Leptomonas wallacei is a gut-restricted insect trypanosomatid only retrieved from Oncopeltus fasciatus. The insects get infected by coprophagy and transovum transmission of L. wallacei cysts. The main goal of the present study was to investigate the effects of a natural infection by L. wallacei on the hemipteran insect O. fasciatus, by comparing infected and uninfected individuals in a controlled environment. The L. wallacei-infected individuals showed reduced lifespan and morphological alterations. Also, we demonstrated a higher infection burden in females than in males. The infection caused by L. wallacei reduced host reproductive fitness by negatively impacting egg load, oviposition, and eclosion, and promoting an increase in egg reabsorption. Moreover, we associated the egg reabsorption observed in infected females, with a decrease in the intersex gene expression. Finally, we suggest alterations in population dynamics induced by L. wallacei infection using a mathematical model. Collectively, our findings demonstrated that L. wallacei infection negatively affected the physiology of O. fasciatus, which suggests that L. wallacei potentially has a vast ecological impact on host population growth

Thermal conductivity and thermal boundary resistance of nanostructures

International audienceWe present a fabrication process of low-cost superlattices and simulations related with the heat dissipation on them. The influence of the interfacial roughness on the thermal conductivity of semiconductor/semiconductor superlattices was studied by equilibrium and non-equilibrium molecular dynamics and on the Kapitza resistance of superlattice's interfaces by equilibrium molecular dynamics. The non-equilibrium method was the tool used for the prediction of the Kapitza resistance for a binary semiconductor/metal system. Physical explanations are provided for rationalizing the simulation results

Impact of dietary patterns, individual and workplace characteristics on blood pressure status among civil servants in Bida and Wushishi communities of Niger State, Nigeria

The global burden estimate of hypertension is alarming and results in several million deaths annually. A high incidence of sudden deaths from cardiovascular diseases in the civil workforce in Nigeria is often reported. However, the associations between Dietary Patterns (DPs), individual, and workplace characteristics of hypertension among this workforce have not been fully explored. This study aimed to identify DP in the Bida and Wushishi Communities of Niger State and establish its relationship with hypertension along with other individual and workplace characteristics. Factor analysis was used to establish DP, Chi-square test to identify their relationships with hypertension, and logistic regression to determine the predictor risk factors. The prevalence of hypertension was 43.7%; mean weight, height, and body fat were: 72.8±15 kg, 166±8.9 mm and 30.4%, respectively. Three DPs: “Efficient Diet,” “Local diet,” and “Energy Boost Diet” were identified. The factor loading scores for these factors were divided into quintiles Q1–Q5; none of them had a significant effect on hypertension status. Conversely, increase in age, the Ministry, Department, and Agency (MDA) of employment, frequency of eating in restaurants, and obesity were identified as significant risk factors. After adjusting for confounders (age, body mass index, MDA, and eating habits), a high score (Q5) in “efficient diet pattern” was significantly related to a lower likelihood of hypertension than a low score (Q1). The prevalence of hypertension among the participants was relatively very high. An increase in age and working in educational sector were risk factors associated with hypertension. Therefore, it is recommended that civil servants engage in frequent exercise and undergo regular medical checkups, especially as they get older. These findings highlight the need for large-scale assessment of the impact of variables considered in this study on hypertension, among the civil workforce across Niger state and Nigeria

Assessing the Potential Impacts to Riparian Ecosystems Resulting from Hemlock Mortality in Great Smoky Mountains National Park

Hemlock Woolly Adelgid (Adelges tsugae) is spreading across forests in eastern North America, causing mortality of eastern hemlock (Tsuga canadensis [L.] Carr.) and Carolina hemlock (Tsuga caroliniana Engelm.). The loss of hemlock from riparian forests in Great Smoky Mountains National Park (GSMNP) may result in significant physical, chemical, and biological alterations to stream environments. To assess the influence of riparian hemlock stands on stream conditions and estimate possible impacts from hemlock loss in GSMNP, we paired hardwood- and hemlock-dominated streams to examine differences in water temperature, nitrate concentrations, pH, discharge, and available photosynthetic light. We used a Geographic Information System (GIS) to identify stream pairs that were similar in topography, geology, land use, and disturbance history in order to isolate forest type as a variable. Differences between hemlock- and hardwood-dominated streams could not be explained by dominant forest type alone as forest type yields no consistent signal on measured conditions of headwater streams in GSMNP. The variability in the results indicate that other landscape variables, such as the influence of understory Rhododendron species, may exert more control on stream conditions than canopy composition. The results of this study suggest that the replacement of hemlock overstory with hardwood species will have minimal impact on long-term stream conditions, however disturbance during the transition is likely to have significant impacts. Management of riparian forests undergoing hemlock decline should, therefore, focus on facilitating a faster transition to hardwood-dominated stands to minimize long-term effects on water quality

Keldysh technique and non-linear sigma-model: basic principles and applications

The purpose of this review is to provide a comprehensive pedagogical introduction into Keldysh technique for interacting out-of-equilibrium fermionic and bosonic systems. The emphasis is placed on a functional integral representation of underlying microscopic models. A large part of the review is devoted to derivation and applications of the non-linear sigma-model for disordered metals and superconductors. We discuss such topics as transport properties, mesoscopic effects, counting statistics, interaction corrections, kinetic equation, etc. The sections devoted to disordered superconductors include Usadel equation, fluctuation corrections, time-dependent Ginzburg-Landau theory, proximity and Josephson effects, etc. (This review is a substantial extension of arXiv:cond-mat/0412296.)Comment: Review: 103 pages, 19 figure