Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

The microtubule-associated protein tau (encoded by MAPT) and several tau kinases have been implicated in neurodegeneration, but only MAPT has a proven role in disease. We identified mutations in the gene encoding tau tubulin kinase 2 (TTBK2) as the cause of spinocerebellar ataxia type 11. Affected brain tissue showed substantial cerebellar degeneration and tau deposition. These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration.     

Variation in complement factor 3 is associated with risk of age-related macular degeneration

The association of variants in complement factors H and B with age-related macular degeneration has led to more intense genetic and functional analysis of the complement pathway. We identify a nonsynonymous coding change in complement factor 3 that is strongly associated with risk of age-related macular degeneration in a large case-control sample.     

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in MED12 (also called TRAP230 or HOPA), a gene located at Xq13 that functions as a thyroid receptor-associated protein in the Mediator complex.     

Effect of ethanol on toxicity and metabolism of amphetamine in the mouse.

Ethanol, 3 g/kg i.p., did not significantly alter the acute toxicity of amphetamine in the mouse. However, the urinary metabolite pattern was changed, suggesting that ethanol suppressed metabolism of the stimulant during the initial 6 h period. After 24 h, the mouse metabolized the same fraction of a given dose of amphetamine, whether it was given as amphetamine alone or amphetamine mixed with 2,3 or 4 g/kg ethanol.     

FROM MANUFACTURING SCHEDULING TO SUPPLY CHAIN COORDINATION：THE CONTROL OF COMPLEXITY AND UNCERTAINTY

With time-based competition and rapid technology advancements, effective manufacturingscheduling and supply chain coordination are critical to quickly respond to changing marketconditions. These problems, however, are difficult in view of inherent complexity and variousuncertainties involved. Based on a series of results by the authors, decomposition and coordination byusing Lagrangian relaxation is identified in this paper as an effective way to control complexity anduncertainty.A manufacturing scheduling problem is first formulated within the job shop context withuncertain order arrivals, processing times, due dates, and part priorities as a separable optimizationproblem. A solution methodology that combines Lagrangian relaxation, stochastic dynamicprogramming, and heuristics is developed. Method improvements to effectively solve large problemsare also highlighted. To extend manufacturing scheduling within a factory to coordinate autonomicmembers across chains of suppliers, a decentralized supply chai     

A CLUSTERING ALGORITHM FOR MIXED NUMERIC AND CATEGORICAL DATA

Most of the earlier work on clustering mainly focused on numeric data whose inherent geometric properties can be exploited to naturally define distance functions between data points. However, data mining applications frequently involve many datasets that also consists of mixed numeric and categorical attributes. In this paper we present a clustering algorithm which is based on the k-means algorithm. The algorithm clusters objects with numeric and categorical attributes in a way similar to k-means. The object similarity measure is derived from both numeric and categorical attributes. When applied to numeric data, the algorithm is identical to the k-means. The main result of this paper is to provide a method to update the “cluster centers“ of clustering objects described by mixed numeric and categorical attributes in the clustering process to minimise the clustering cost function. The clustering performance of the algorithm is demonstrated with the two well known data sets, namely credit approval and abalone databases.     

Analysis of discrete-time queues with batch renewal input and multiple vacations

This paper analyzes a discrete-time multiple vacations finite-buffer queueing system with batch renewal input in which inter-arrival time of batches are arbitrarily distributed.Service and vacation times are mutually independent and geometrically distributed.The server takes vacations when the system does not have any waiting jobs at a service completion epoch or a vacation completion epoch.The system is analyzed under the assumptions of late arrival system with delayed access and early arrival system.Using the supplementary variable and the imbedded Markov chain techniques, the authors obtain the queue-length distributions at pre-arrival,arbitrary and outside observer’s observation epochs for partial-batch rejection policy.The blocking probability of the first-,an arbitrary-and the last-job in a batch have been discussed.The analysis of actual waiting-time distributions measured in slots of the first-,an arbitrary- and the last-job in an accepted batch,and other performance measures along with some numerical results have also been investigated.