Blattsprachen und Blattfunktionen

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Complexity classifications for different equivalence and audit problems for Boolean circuits

We study Boolean circuits as a representation of Boolean functions and consider different equivalence, audit, and enumeration problems. For a number of restricted sets of gate types (bases) we obtain efficient algorithms, while for all other gate types we show these problems are at least NP-hard.Comment: 25 pages, 1 figur

Processing Succinct Matrices and Vectors

We study the complexity of algorithmic problems for matrices that are represented by multi-terminal decision diagrams (MTDD). These are a variant of ordered decision diagrams, where the terminal nodes are labeled with arbitrary elements of a semiring (instead of 0 and 1). A simple example shows that the product of two MTDD-represented matrices cannot be represented by an MTDD of polynomial size. To overcome this deficiency, we extended MTDDs to MTDD_+ by allowing componentwise symbolic addition of variables (of the same dimension) in rules. It is shown that accessing an entry, equality checking, matrix multiplication, and other basic matrix operations can be solved in polynomial time for MTDD_+-represented matrices. On the other hand, testing whether the determinant of a MTDD-represented matrix vanishes PSPACE$-complete, and the same problem is NP-complete for MTDD_+-represented diagonal matrices. Computing a specific entry in a product of MTDD-represented matrices is #P-complete.Comment: An extended abstract of this paper will appear in the Proceedings of CSR 201

NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene

This work describes the application of NGS for molecular diagnosis of RP in a family with a history of severe hypovision. In particular, the proband received a clinical diagnosis of RP on the basis of medical, instrumental examinations and his family history. The proband was subjected to NGS, utilizing a customized panel including 24 genes associated with RP and other retinal dystrophies. The NGS analysis revealed a novel missense variant (c.668T > A, I223N) in PRPH2 gene, which was investigated by segregation and bioinformatic analysis. The variant is located in the D2 loop domain of PRPH2, which is critical for protein activity. Bioinformatic analysis described the c.668T > A as a likely pathogenic variant. Moreover, a 3D model prediction was performed to better characterize the impact of the variant on the protein, reporting a disruption of the \u3b1-helical structures. As a result, the variant protein showed a substantially different conformation with respect to the wild-type PRPH2. The identified variant may therefore affect the oligomerization ability of the D2 loop and, ultimately, hamper PRPH2 proper functioning and localization. In conclusion, PRPH2_c.668T > A provided a molecular explanation of RP symptomatology, highlighting the clinical utility of NGS panels to facilitate genotype\u2013phenotype correlations

Application of Precision Medicine in Neurodegenerative Diseases

One of the main challenges for healthcare systems is the increasing prevalence of neurodegenerative pathologies together with the rapidly aging populations. The enormous progresses made in the field of biomedical research and informatics have been crucial for improving the knowledge of how genes, epigenetic modifications, aging, nutrition, drugs and microbiome impact health and disease. In fact, the availability of high technology and computational facilities for large-scale analysis enabled a deeper investigation of neurodegenerative disorders, providing a more comprehensive overview of disease and encouraging the development of a precision medicine approach for these pathologies. On this subject, the creation of collaborative networks among medical centers, research institutes and highly qualified specialists can be decisive for moving the precision medicine from the bench to the bedside. To this purpose, the present review has been thought to discuss the main components which may be part of precise and personalized treatment programs applied to neurodegenerative disorders. Parkinson Disease will be taken as an example to understand how precision medicine approach can be clinically useful and provide substantial benefit to patients. In this perspective, the realization of web-based networks can be decisive for the implementation of precision medicine strategies across different specialized centers as well as for supporting clinical/therapeutical decisions and promoting a more preventive and participative medicine for neurodegenerative disorders. These collaborative networks are essentially addressed to find innovative, sustainable and effective strategies able to provide optimal and safer therapies, discriminate at risk individuals, identify patients at preclinical or early stage of disease, set-up individualized and preventative strategies for improving prognosis and patient's quality of life

Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report

The diagnosis of LGMD2A (calpainopathy) can be challenging due to genetic heterogeneity and to high similarity with other LGMDs or neuromuscular disorders. In this setting, NGS panels are highly recommended to perform differential diagnosis, identify new causative mutations and enable genotype-phenotype correlations. In this manuscript, the case of a patient affected by LGMD2A is reported, for which the application of a defined custom designed NGS panel allowed to confirm the diagnosis of calpainopathy linked with two heterozygous variants in CAPN3, namely c.550delA and c.1813G>C. The first variant has been extensively described in relation to calpainopathy. The second variant c.1813G>C, instead, is novel and has been predicted to be probably damaging. In addition, NGS analysis on the proband revealed a heterozygous variant (c.550C>T) in the LMNA gene, which is associated with dilated cardiomyopathy. The variant is novel and has been predicted to be deleterious by subsequent bioinformatic analysis. Successively, segregation analysis was performed on family members. Interestingly, none of them showed neuromuscular symptoms but the mother was diagnosed with bradycardia and syncopal episodes and showed a positive family history for cardiomyopathy. The segregation analysis reported that the proband inherited the c.1813G>C (CAPN3) from the father who was a healthy carrier. The mother was positive for c.550delA (CAPN3) and c.550C>T (LMNA), suggesting thereby a possible genetic explanation for her cardiovascular problems. Segregation analysis, therefore, confirmed the inheritance pattern of the variants carried by the proband and highlighted a familiarity for cardiomyopathy which should not be neglected. The NGS analysis was further performed on the partner of the proband, to estimate the reproductive risk of the couple. The partner was negative to NGS screening, suggesting thereby a low risk to have an affected child with calpainopathy and 50% probability inherit the LMNA variant. This case report showed the clinical utility of the NGS panel in providing accurate LGMD2A diagnosis and identifying complex phenotypes originating from mutations in multiple genes. However, NGS results should always be accomplished by a dedicated genetic counseling, not only to evaluate the recurrence and reproductive risks but also to uncover unexpected findings which can be clinically significant

Robot control in cooperative object carrying

In the future, robots will gradually become part of our daily life. Hence, human-robot-interaction is a crucial field of research. One way of interaction is the cooperative manipulation of an object by a human and a robot. Most of the work in literature considers scenarios within which the robot assists the human operator as a passive follower. However, better task performance can be achieved if the robot acts as active, human-like partner. The human intention has to be recognized by the robot and appropriate control strategies to perform a given task have to be designed and implemented on the autonomous robot. In order to design the control, existing approaches from literature that model human behavior can be tested and modified. The scenario to be considered in this thesis is a cooperative object carrying task

A Generalization of the Büchi-Elgot-Trakhtenbrot Theorem

We consider the power of nondeterministic finite automata with generalized acceptance criteria and the corresponding logics. In particular, we examine the expressive power of monadic second-order logic enriched with monadic second-order generalized quantifiers for algebraic word-problems. Extending a well-known result by Büchi, Elgot, and Trakhtenbrot, we show that considering monoidal quantifiers, the obtained logic captures the class of regular languages. We also consider monadic second-order groupoidal quantifiers and show that these are powerful enough to define every language in LOGCFL

Generic Separations and Leaf Languages

In the early nineties of the previous century, leaf languages were introduced as a means for the uniform characterization of many complexity classes, mainly in the range between P (polynomial time) and PSPACE (polynomial space). It was shown that the separability of two complexity classes can be reduced to a combinatorial property of the corresponding dening leaf languages. In the present paper, it is shown that every separation obtained in this way holds for every generic oracle in the sense of Blum and Impagliazzo. We obtain several consequences of this result, regarding, e.g., simultaneous separations and universal oracles, resource-bounded genericity, and type-2 complexity