Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina

PURPOSE: Mutations in the retinal degeneration slow (RDS)/peripherin gene have been shown to be associated with pattern dystrophy of the retina (PDR) and other retinal dystrophies. The aim of our study was to confirm or exclude the RDS locus and the rhodopsin (RHO) locus as the disease causing locus in a large Swiss family affected with pattern dystrophy of the retina. MATERIALS AND METHODS: A Swiss family with 14 members across 3 generations affected with PDR was examined. Eleven living family members were investigated using 6 markers surrounding the RDS and RHO loci. RESULTS: Linkage to two possible candidate genes, the RDS gene on chromosome 6p and the rhodopsin gene on chromosome 3q, could be excluded. CONCLUSIONS: The family provides evidence for genetic heterogeneity of PDR and is in agreement with heterogeneity in other retinal dystrophies. Further investigations are in progress to map the gene causing PDR in this family

Weighted Automata and Logics for Infinite Nested Words

Nested words introduced by Alur and Madhusudan are used to capture structures with both linear and hierarchical order, e.g. XML documents, without losing valuable closure properties. Furthermore, Alur and Madhusudan introduced automata and equivalent logics for both finite and infinite nested words, thus extending B\"uchi's theorem to nested words. Recently, average and discounted computations of weights in quantitative systems found much interest. Here, we will introduce and investigate weighted automata models and weighted MSO logics for infinite nested words. As weight structures we consider valuation monoids which incorporate average and discounted computations of weights as well as the classical semirings. We show that under suitable assumptions, two resp. three fragments of our weighted logics can be transformed into each other. Moreover, we show that the logic fragments have the same expressive power as weighted nested word automata.Comment: LATA 2014, 12 page

Clinical efficacy of amoxycillin/clavulanate in laparoscopically confirmed salpingitis

To test the efficacy and safety of amoxycillin/clavulanate (Augmenting 102 hospital patients with laparoscopically confirmed acute salpingitis were treated with paren-teral amoxycillin/clavulanate (l.2g qid for three days) followed by oral amoxycillin/ clavulanate (two tablets of 625 mg tid for a further six days). Bacteriological samples were obtained from the cervix uteri and the pouch of Douglas. One hundred patients were assessable for clinical outcome using several variables including pain scores. Amoxycillin/clavulanate alone was effective in 95 patients (95%). Three patients (3%) responded to amoxycillin/clavulanate with marked improvement but another antibiotic was subsequently added to their treatment regimen. Treatment failed in two patients. At follow-up two weeks after hospital discharge, three patients (3.8%) had relapsed or were re-infected. Adverse drug events included one case of drug fever, one case of rash and one case of severe diarrhoea. Treatment was stopped in all three cases. Gastrointestinal reactions, mainly mild diarrhoea, were seen in 31 patients. No clinically relevant changes in haematological or clinical chemical indices were attributable to the amoxycillin/clavulanate treatment. We conclude that amoxycillin/clavulanate is a clinically effective and safe treatment for acute salpingiti

Randomness for Free

We consider two-player zero-sum games on graphs. These games can be classified on the basis of the information of the players and on the mode of interaction between them. On the basis of information the classification is as follows: (a) partial-observation (both players have partial view of the game); (b) one-sided complete-observation (one player has complete observation); and (c) complete-observation (both players have complete view of the game). On the basis of mode of interaction we have the following classification: (a) concurrent (both players interact simultaneously); and (b) turn-based (both players interact in turn). The two sources of randomness in these games are randomness in transition function and randomness in strategies. In general, randomized strategies are more powerful than deterministic strategies, and randomness in transitions gives more general classes of games. In this work we present a complete characterization for the classes of games where randomness is not helpful in: (a) the transition function probabilistic transition can be simulated by deterministic transition); and (b) strategies (pure strategies are as powerful as randomized strategies). As consequence of our characterization we obtain new undecidability results for these games

On the Sets of Real Numbers Recognized by Finite Automata in Multiple Bases

This article studies the expressive power of finite automata recognizing sets of real numbers encoded in positional notation. We consider Muller automata as well as the restricted class of weak deterministic automata, used as symbolic set representations in actual applications. In previous work, it has been established that the sets of numbers that are recognizable by weak deterministic automata in two bases that do not share the same set of prime factors are exactly those that are definable in the first order additive theory of real and integer numbers. This result extends Cobham's theorem, which characterizes the sets of integer numbers that are recognizable by finite automata in multiple bases. In this article, we first generalize this result to multiplicatively independent bases, which brings it closer to the original statement of Cobham's theorem. Then, we study the sets of reals recognizable by Muller automata in two bases. We show with a counterexample that, in this setting, Cobham's theorem does not generalize to multiplicatively independent bases. Finally, we prove that the sets of reals that are recognizable by Muller automata in two bases that do not share the same set of prime factors are exactly those definable in the first order additive theory of real and integer numbers. These sets are thus also recognizable by weak deterministic automata. This result leads to a precise characterization of the sets of real numbers that are recognizable in multiple bases, and provides a theoretical justification to the use of weak automata as symbolic representations of sets.Comment: 17 page

Playing Muller Games in a Hurry

This work studies the following question: can plays in a Muller game be stopped after a finite number of moves and a winner be declared. A criterion to do this is sound if Player 0 wins an infinite-duration Muller game if and only if she wins the finite-duration version. A sound criterion is presented that stops a play after at most 3^n moves, where n is the size of the arena. This improves the bound (n!+1)^n obtained by McNaughton and the bound n!+1 derived from a reduction to parity games

Patient well‐being after general anaesthesia: a prospective, randomized, controlled multi‐centre trial comparing intravenous and inhalation anaesthesia

Background. The aim of this study was to assess postoperative patient well‐being after total i.v. anaesthesia compared with inhalation anaesthesia by means of validated psychometric tests. Methods. With ethics committee approval, 305 patients undergoing minor elective gynaecologic or orthopaedic interventions were assigned randomly to total i.v. anaesthesia using propofol or inhalation anaesthesia using sevoflurane. The primary outcome measurement was the actual mental state 90 min and 24 h after anaesthesia assessed by a blinded observer using the Adjective Mood Scale (AMS) and the State‐Trait‐Anxiety Inventory (STAI). Incidence of postoperative nausea and vomiting (PONV) and postoperative pain level were determined by Visual Analogue Scale (VAS) 90 min and 24 h after anaesthesia (secondary outcome measurements). Patient satisfaction was evaluated using a VAS 24 h after anaesthesia. Results. The AMS and STAI scores were significantly better 90 min after total i.v. anaesthesia compared with inhalation anaesthesia (P=0.02, P=0.05, respectively), but equal 24 h after both anaesthetic techniques (P=0.90, P=0.78, respectively); patient satisfaction was comparable (P=0.26). Postoperative pain was comparable in both groups 90 min and 24 h after anaesthesia (P=0.11, P=0.12, respectively). The incidence of postoperative nausea was reduced after total i.v. compared with inhalation anaesthesia at 90 min (7 vs 35%, P<0.001), and 24 h (33 vs 52%, P=0.001). Conclusion. Total i.v. anaesthesia improves early postoperative patient well‐being and reduces the incidence of PONV. Br J Anaesth 2003; 91: 631-

What's Decidable About Sequences?

We present a first-order theory of sequences with integer elements, Presburger arithmetic, and regular constraints, which can model significant properties of data structures such as arrays and lists. We give a decision procedure for the quantifier-free fragment, based on an encoding into the first-order theory of concatenation; the procedure has PSPACE complexity. The quantifier-free fragment of the theory of sequences can express properties such as sortedness and injectivity, as well as Boolean combinations of periodic and arithmetic facts relating the elements of the sequence and their positions (e.g., "for all even i's, the element at position i has value i+3 or 2i"). The resulting expressive power is orthogonal to that of the most expressive decidable logics for arrays. Some examples demonstrate that the fragment is also suitable to reason about sequence-manipulating programs within the standard framework of axiomatic semantics.Comment: Fixed a few lapses in the Mergesort exampl

Potential role of coronary vasoconstriction in ischaemic heart disease: effect of exercise

Coronary vasomotion plays an important role in the regulation of coronary perfusion at rest and during exercise. Normal coronary arteries show coronary vasodilation of the proximal (+20%) and distal (+40%) vessel segments during supine bicycle exercise. However, patients with coronary artery disease show exercise-induced vasoconstriction of the stenotic vessel segments. The exact mechanism of exercise-induced stenosis narrowing is not clear but might be related to a passive collapse of the disease-free vessel wall (Venturi mechanism), elevated plasma levels of circulating catecholamines, an insufficient production of the endothelium-derived vesorelaxing factor or increased platelet aggregation due to turbulent blood flow with release of thromboxane A2 and serotonin. Various vasoactive drugs, such as nitroglycerin and calcium antagonists, prevent exercise-induced stenosis vasoconstriction. An additive effect on coronary vasodilation of the stenotic vessel segment was observed after combination of nitroglycerin with diltiazem. Thus, exercise-induced stenosis narrowing plays an important role in the pathophysiology of myocardial ischaemia during dynamic exercise. The antianginal effect of vasoactive substances can be explained—besides the effect on pre- and afterload—by a direct action on coronary stenosis vasomotio