Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect in the intestinal absorption of magnesium, rather than by abnormal renal loss of magnesium. Restoring the concentrations of serum magnesium to normal values by high-dose magnesium supplementation can overcome the apparent defect in magnesium absorption and in serum concentrations of calcium. Life-long magnesium supplementation is required to overcome the defect in magnesium handling by these individuals. We previously mapped the gene locus to chromosome 9q in three large inbred kindreds from Israel. Here we report that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and show that individuals carrying mutations in this gene have abnormal renal magnesium excretion.     

Experimental demonstration of a robust,high-fidelity geometric two ion-qubit phase gate

Universal logic gates for two quantum bits (qubits) form an essential ingredient of quantum computation. Dynamical gates have been proposed in the context of trapped ions; however, geometric phase gates (which change only the phase of the physical qubits) offer potential practical advantages because they have higher intrinsic resistance to certain small errors and might enable faster gate implementation. Here we demonstrate a universal geometric pi-phase gate between two beryllium ion-qubits, based on coherent displacements induced by an optical dipole force. The displacements depend on the internal atomic states; the motional state of the ions is unimportant provided that they remain in the regime in which the force can be considered constant over the extent of each ion's wave packet. By combining the gate with single-qubit rotations, we have prepared ions in an entangled Bell state with 97% fidelity-about six times better than in a previous experiment demonstrating a universal gate between two ion-qubits. The particular properties of the gate make it attractive for a multiplexed trap architecture that would enable scaling to large numbers of ion-qubits.     

Seismic hazard in the Marmara Sea region following the 17 August 1999 Izmit earthquake

On 17 August 1999, a destructive magnitude 7.4 earthquake occurred 100 km east of Istanbul, near the city of Izmit, on the North Anatolian fault. This 1,600-km-long plate boundary slips at an average rate of 2-3 cm yr(-1), and historically has been the site of many devastating earthquakes. This century alone it has ruptured over 900 km of its length. Models of earthquake-induced stress change combined with active fault maps had been used to forecast that the epicentral area of the 1999 Izmit event was indeed a likely location for the occurrence of a large earthquake. Here we show that the 1999 event itself significantly modifies the stress distribution resulting from previous fault interactions. Our new stress models take into account all events in the region with magnitudes greater than 6 having occurred since 1700 as well as secular interseismic stress change, constrained by GPS data. These models provide a consistent picture of the long term spatio-temporal behaviour of the North Anatolian fault and indicate that two events of magnitude equal to, or greater than, the Izmit earthquake are likely to occur within the next decades beneath the Marmara Sea, south of Istanbul.     

L'isolement de l'α-amylase de pancréas

Summary The -amylase of hog pancreas has been purified and the degree of purity controled by electrophoresis. The active substance is a protein which can dissociate in an unstable high molecular component and a thermostable component of low molecular weight.     

Fabrication of complex,3D,branched hollow carbonaceous structures and their applications for supercapacitors

A unique "integrated hard-templating strategy" is described for facile synthesis of a carbonaceous mate-rial with a novel three-dimensional (3D) branched hollow...     

Computer analysis of cross sections of leaves of Chrysothamnus taxa and their relation to environmental conditions

Thirty-eight accessions of 20 taxa (species and subspecies) of Chrysothamnus from a range of environments were grown in a uniform garden. During mid-June, terminal and lateral leaves were removed, fixed, and processed for light-microscopy studies. Area and perimeter measurements of ink tracings of midleaf vein cross sections were measured using computer-scan techniques. Leaf area and perimeter were compared with vein perimeter and area measurements. Area and perimeter of these Chrysothamnus leaves varied in response to the environment at the collection location. Plants native to hot, dry conditions had small, thick leaves, whereas plants native to cooler, more mesic conditions had relatively large, thin leaves. Similarly, leaves with round veins were adapted to hot, dry environments and leaves with elliptical veins were adapted to cooler, more mesic environments. Both terminal (young) and lateral (older) leaves were sampled. Terminal leaves showed significant (p < .05) correlational responses to environmental parameters, whereas the lateral leaves, while fronding in the predicted morphological directions, did not generally show significant responses. The different responses of terminal and lateral leaves may have been due to canopy position and uniform environmental conditions of the garden. Leaves with large cross sections characteristically had large veins, and leaves with small cross sections characteristically had small veins. Large leaf cross sections were normally flat. Small leaf cross sections were normally round. Decreasing leaf size and increasing leaf thickness were correlated with aridity.     

A life history study of the Snake River plains endemic Lepidium papilliferum (Brassicaceae)

Lepidium papilliferum is an ephemeral species that occupies ""slick spot"" microhabitats in the matrix of sagebrush steppe vegetation of the southwestern Snake River plains, Idaho, USA. We related population demographic data collected from 1993 to 1996 to on-site precipitation data on the Orchard Training Area west of Boise. We also carried out field seed-retrieval and in situ seed bank studies. We found that L. papilliferum has a dual life history strategy. A fraction of each cohort sets seed as summer annuals, while the remaining plants remain vegetative and potentially biennial. Surviving biennials flower and set seed along with the annual cohort of the following year. The switch to flowering as an annual appears to be based on threshold rosette size. Probability of survival to flowering was much lower for biennials than for annuals of the same cohort, but surviving biennials sometimes had enhanced seed production. The summerdry environment of the Snake River plains combined with the slick spot habitat has apparently selected for a primarily summer annual life cycle for this species. Seeds were highly dormant at dispersal and were not responsive to dormancybreaking cues. Those from a given cohort of L. papilliferum remained viable in the soil for at least 11 years. This persistent seed bank provides a buffer against extinction in sequences of years when seed production is low or absent. Estimated seed bank size varied from near zero for a heavily disturbed site that formerly supported the species to 18 viable seeds · dm -2 for an extant population in high-quality habitat. Management for population preservation for L. papilliferum should focus on protecting the seed bank from destruction caused by livestock trampling and other anthropogenic disturbances.     

Dendritic reticulum cells in AIDS-related lymphadenopathy

Summary One of two cases of acquired immune deficiency syndrome-related persistent generalized lymphadenopathy revealed a profoundly altered pattern of dendritic reticulum cells as demonstrated by immunoreactive acid cysteine proteinase inhibitor. The alterations could be related to totally or partially destructed lymphoid secondary follicles.Acknowledgments. This work has been partially supported by the grant from the Sigrid Juselius Foundation, Finland.