Mutations in the Human Ca2+-Sensing-Receptor Gene That Cause Familial Hypocalciuric Hypercalcemia

We report five novel mutations in the human Ca²⁺-sensing-receptor gene that cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism. Each gene defect is a missense mutation (²²⁸Arg→Gln, ¹³⁹Thr→Met, ¹⁴⁴Gly→Glu, ⁶³Arg→Met, and ⁶⁷Arg→Cys) that encodes a nonconservative amino acid alteration. These mutations are each predicted to be in the Ca²⁺-sensing receptor's large extracellular domain. In three families with FHH linked to the Ca²⁺-sensing-receptor gene on chromosome 3 and in unrelated individuals probands with FHH, mutations were not detected in protein-coding sequences. On the basis of these data and previous analyses, we suggest that there are a wide range of mutations that cause FHH. Mutations that perturb the structure and function of the extracellular or transmembrane domains of the receptor and those that affect noncoding sequences of the Ca²⁺-sensing-receptor gene can cause FHH.     

Body composition techniques and the four-compartment model in children.

The purpose of this study was to compare the accuracy, precision, and bias of fat mass (FM) as assessed by dual-energy X-ray absorptiometry (DXA), hydrostatic weighing (HW), air-displacement plethysmography (PM) using the BOD POD body composition system and total body water (TBW) against the four-compartment (4C) model in 25 children (11.4 +/- 1.4 yr). The regression between FM by the 4C model and by DXA deviated significantly from the line of identity (FM by 4C model = 0.84 x FM by DXA + 0.95 kg; R(2) = 0.95), as did the regression between FM by 4C model and by TBW (FM by 4C model = 0. 85 x FM by TBW - 0.89 kg; R(2) = 0.98). The regression between FM by the 4C model and by HW did not significantly deviate from the line of identity (FM by 4C model = 1.09 x FM by HW + 0.94 kg; R(2) = 0. 95) and neither did the regression between FM by 4C (using density assessed by PM) and by PM (FM by 4C model = 1.03 x FM by PM + 0.88; R(2) = 0.97). DXA, HW, and TBW all showed a bias in the estimate of FM, but there was no bias for PM. In conclusion, PM was the only technique that could accurately, precisely, and without bias estimate FM in 9- to 14-yr-old children.     

GroEL Ring Separation and Exchange in the Chaperonin Reaction

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The stacking interactions of bipyridine complexes: the influence of the metal ion type on the strength of interactions

The strength of the stacking interactions in the bipy complexes of nickel, palladium, and platinum, [M(CN)₂ bipy]₂ (M?=?Ni, Pd, Pt), was calculated using the ωB97xD/def2-TZVP method. The results show that for all considered geometries, interactions are the strongest for platinum, and weakest for nickel complexes, as a result of higher dispersion contributions of platinum over the palladium and nickel complexes. It was also shown that strength of interactions considerably rises with an increase of the stacking overlap area. As a consequence of the favorable electrostatic term, the strength of interactions also rises when metal atom and cyano ligands are involved in the overlap with bipy ligand. The strongest interaction was calculated in the platinum complex, for the geometry that has overlap of metal and cyano ligands with bipy ligand with an energy of -39.80 kcal mol^-1. The energies for similar geometries of palladium and nickel complexes are -34.60 and -32.45 kcal mol^-1. These energies, remarkably, exceed the strength of the stacking interactions between organic aromatic molecules. These results can be of importance in all systems with stacking interactions, from materials to biomolecules.     

Sustaining Control of Schistosomiasis Mansoni in Western C?te d’Ivoire: Results from a SCORE Study,One Year after Initial Praziquantel Administration

Background

The Schistosomiasis Consortium for Operational Research and Evaluation (SCORE) has launched several large-scale trials to determine the best strategies for gaining and sustaining control of schistosomiasis and transitioning toward elimination. In Côte d’Ivoire, a 5-year cluster-randomized trial is being implemented in 75 schools to sustain the control of schistosomiasis mansoni. We report Schistosoma mansoni infection levels in children one year after the initial school-based treatment (SBT) with praziquantel and compare with baseline results to determine the effect of the intervention.

Methodology

The baseline cross-sectional survey was conducted in late 2011/early 2012 and the first follow-up in May 2013. Three consecutive stool samples were collected from 9- to 12-year-old children in 75 schools at baseline and 50 schools at follow-up. Stool samples were subjected to duplicate Kato-Katz thick smears. Directly observed treatment (DOT) coverage of the SBT was assessed and the prevalence and intensity of S. mansoni infection compared between baseline and follow-up.

Principal Findings

The S. mansoni prevalence in the 75 schools surveyed at baseline was 22.1% (95% confidence interval (CI): 19.5–24.4%). The DOT coverage was 84.2%. In the 50 schools surveyed at baseline and one year after treatment, the overall prevalence of S. mansoni infection decreased significantly from 19.7% (95% CI: 18.5–20.8%) to 12.8% (95% CI: 11.9–13.8%), while the arithmetic mean S. mansoni eggs per gram of stool (EPG) among infected children slightly increased from 92.2 EPG (95% CI: 79.2–105.3 EPG) to 109.3 EPG (95% CI: 82.7–135.9 EPG). In two of the 50 schools, the prevalence increased significantly, despite a DOT coverage of >75%.

Conclusions/Significance

One year after the initial SBT, the S. mansoni prevalence had decreased. Despite this positive trend, an increase was observed in some schools. Moreover, the infection intensity among S. mansoni-infected children was slightly higher at the 1-year follow-up compared to the baseline situation. Our results emphasize the heterogeneity of transmission dynamics and provide a benchmark for the future yearly follow-up surveys of this multi-year SCORE intervention study.     

Occurrence of an Environmental Acinetobacter baumannii Strain Similar to a Clinical Isolate in Paleosol from Croatia

Over the past decade, bacteria of the genus Acinetobacter have emerged as a leading cause of hospital-acquired infections. Outbreaks of Acinetobacter infections are considered to be caused exclusively by contamination and transmission in hospital environments. The natural habitats of clinically important multiresistant Acinetobacter spp. remain to be defined. In this paper, we report an incidental finding of a viable multidrug-resistant strain of Acinetobacter baumannii, related to clinical isolates, in acid paleosol from Croatia. The environmental isolate of A. baumannii showed 87% similarity to a clinical isolate originating from a hospital in this geographic area and was resistant to gentamicin, trimethoprim-sulfamethoxazole, ciprofloxacin, and levofloxacin. In paleosol, the isolate was able to survive a low pH (3.37), desiccation, and a high temperature (50°C). The probable source of A. baumannii in paleosol is illegally disposed waste of external origin situated in the abandoned quarry near the sampling site. The bacteria could have been leached from waste by storm water and thus infiltrated the paleosol.     

On the gustatory effect of amiloride in the monkey (Macaca mulatto)

Amiloride suppressed the summated chorda tympani proper nerveresponses to NaCl and LiCl in rhesus monkeys but did not suppressthe responses to sucrose, acesulfame-K, aspartame, Na-saccharin,Na-cyclamate, xylitol, D-glucose, D-fructose, glycine, KCl andNH₄Cl.