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Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary purpose of the registry is to gather data on the epidemiology, diagnostic delay, diagnosis, and treatment of PIDs.
Methods: Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry. Data was analysed with the software Stata® and Excel.
Results: The minimum prevalence of PID in Germany is 2.72 per 100,000 inhabitants. Among patients aged 1–25, there was a clear predominance of males. The median age of living patients ranged between 7 and 40 years, depending on the respective PID. Predominantly antibody disorders were the most prevalent group with 57% of all 2,453 PID patients (including 728 CVID patients). A gene defect was identified in 36% of patients. Familial cases were observed in 21% of patients. The age of onset for presenting symptoms ranged from birth to late adulthood (range 0–88 years). Presenting symptoms comprised infections (74%) and immune dysregulation (22%). Ninety-three patients were diagnosed without prior clinical symptoms. Regarding the general and clinical diagnostic delay, no PID had undergone a slight decrease within the last decade. However, both, SCID and hyper IgE- syndrome showed a substantial improvement in shortening the time between onset of symptoms and genetic diagnosis. Regarding treatment, 49% of all patients received immunoglobulin G (IgG) substitution (70%—subcutaneous; 29%—intravenous; 1%—unknown). Three-hundred patients underwent at least one hematopoietic stem cell transplantation (HSCT). Five patients had gene therapy.
Conclusion: The German PID-NET registry is a precious tool for physicians, researchers, the pharmaceutical industry, politicians, and ultimately the patients, for whom the outcomes will eventually lead to a more timely diagnosis and better treatment.
The synchronous pi-calculus is translated into a core language of Concurrent Haskell extended by futures (CHF). The translation simulates the synchronous message-passing of the pi-calculus by sending messages and adding synchronization using Concurrent Haskell's mutable shared-memory locations (MVars). The semantic criterion is a contextual semantics of the pi-calculus and of CHF using may- and should-convergence as observations. The results are equivalence with respect to the observations, full abstraction of the translation of closed processes, and adequacy of the translation on open processes. The translation transports the semantics of the pi-calculus processes under rather strong criteria, since error-free programs are translated into error-free ones, and programs without non-deterministic error possibilities are also translated into programs without non-deterministic error-possibilities. This investigation shows that CHF embraces the expressive power and the concurrency capabilities of the pi-calculus.
The focus of this paper are space-improvements of programs, which are transformations that do not worsen the space requirement during evaluations. A realistic theoretical treatment must take garbage collection method into account. We investigate space improvements under the assumption of an optimal garbage collector. Such a garbage collector is not implementable, but there is an advantage: The investigations are independent of potential changes in an implementable garbage collector and our results show that the evaluation and other similar transformations are space-improvements.
We investigate translations from the synchronous pi-calculus
into a core language of Concurrent Haskell (CH). Synchronous messagepassing of the pi-calculus is encoded as sending messages and adding synchronization using Concurrent Haskell’s mutable shared-memory locations (MVars). Our correctness criterion for translations is invariance of may- and should-convergence. This embraces that all executions of a process are error-free if and only if this also holds for the translated program. We exhibit a particular correct translation that uses a fresh, private MVar per communication interaction and that is in addition adequate, and which is also fully abstract on closed expressions. A metaresult is that CH has the expressive power and the concurrency capabilities of the synchronous pi-calculus.
We also automatically check variants of translations of synchronous communication into an asynchronous calculus where only an a priori fixed number of MVars per channel (and not per communication interaction!) is available. We obtain non-correctness results for classes of small translations, and exemplary argue for the correctness (and adequacy) for two translations with a higher number of MVars. We introduce a classification of the potentially correct translations.
A sound and complete algorithm for nominal unification of higher-order expressions with a recursive let is described, and shown to run in non-deterministic polynomial time. We also explore specializations like nominal letrec-matching for expressions, for DAGs, and for garbage-free expressions and determine their complexity. As extension a nominal unification algorithm for higher-order expressions with recursive let and atom-variables is constructed, where we show that it also runs in non-deterministic polynomial time.
We consider matching, rewriting, critical pairs and the Knuth-Bendix confluence test on rewrite rules in a nominal setting extended by atom-variables. Computing critical pairs is done using nominal unification, and rewriting using nominal matching. We utilise atom-variables to formulate rewrite rules, which is an improvement over previous approaches, using usual nominal unification, nominal matching and nominal equivalence of expressions coupled with a freshness constraint. We determine the complexity of several problems in a quantified freshness logic. In particular we show that nominal matching is Πp2-complete. We prove that the adapted Knuth-Bendix confluence test is applicable to a nominal rewrite system with atom-variabes and thus, that there is a decidable test whether confluence of the ground instance of the abstract rewrite system holds. We apply the nominal Knuth Bendix confluence criterion to the theory of monads, and compute a convergent nominal rewrite system modulo alpha-equivalence.
This paper is a contribution to exploring and analyzing space-improvements in concurrent programming languages, in particular in the functional process-calculus CHF. Space-improvements are defined as a generalization of the corresponding notion in deterministic pure functional languages. The main part of the paper is the O(n ·logn) algorithm SPOPTN for offline space optimization of several parallel independent processes. Applications of this algorithm are: (i) affirmation of space improving transformations for particular classes of program transformations; (ii) support of an interpreter-based method for refuting space-improvements; and (iii) as a stand-alone offline-optimizer for space (or similar resources) of parallel processes.