Jagiellonian University

About: Jagiellonian University is a education organization based out in Krakow, Poland. It is known for research contribution in the topics: Population & Catalysis. The organization has 17438 authors who have published 44092 publications receiving 862633 citations. The organization is also known as: Academia Cracoviensis & Akademia Krakowska.

X-linked Alport Syndrome Natural History in 195 Families and Genotype- Phenotype Correlations in Males

Abstract: Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease. Considerable allelic heterogeneity has been observed. A "European Community Alport Syndrome Concerted Action" has been established to delineate accurately the AS phenotype and to determine genotype-phenotype correlations in a large number of families. Data concerning 329 families, 250 of them with an X-linked transmission, were collected. Characteristics of the 401 male patients belonging to the 195 families with COL4A5 mutation are presented. All male patients were hematuric, and the rate of progression to end-stage renal failure and deafness was mutation-dependent. Large deletions, non-sense mutations, or small mutations changing the reading frame conferred to affected male patients a 90% probability of developing end-stage renal failure before 30 yr of age, whereas the same risk was of 50 and 70%, respectively, in patients with missense or splice site mutation. The risk of developing hearing loss before 30 yr of age was approximately 60% in patients with missense mutations, contrary to 90% for the other types of mutations. The natural history of X-linked AS and correlations with COL4A5 mutations have been established in a large cohort of male patients. These data could be used for further evaluation of therapeutic approaches.

Scalable noise estimation with random unitary operators

Abstract: We describe a scalable stochastic method for the experimental measurement of generalized fidelities characterizing the accuracy of the implementation of a coherent quantum transformation. The method is based on the motion reversal of random unitary operators. In the simplest case our method enables direct estimation of the average gate fidelity. The more general fidelities are characterized by a universal exponential rate of fidelity loss. In all cases the measurable fidelity decrease is directly related to the strength of the noise affecting the implementation, quantified by the trace of the superoperator describing the non-unitary dynamics. While the scalability of our stochastic protocol makes it most relevant in large Hilbert spaces (when quantum process tomography is infeasible), our method should be immediately useful for evaluating the degree of control that is achievable in any prototype quantum processing device. By varying over different experimental arrangements and error-correction strategies, additional information about the noise can be determined.