8 research outputs found

    T>0 properties of the infinitely repulsive Hubbard model for arbitrary number of holes

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    Based on representations of the symmetric group SNS_N, explicit and exact Schr\"odinger equation is derived for U=U=\infty Hubbard model in any dimensions with arbitrary number of holes, which clearly shows that during the movement of holes the spin background of electrons plays an important role. Starting from it, at T=0 we have analyzed the behaviour of the system depending on the dimensionality and number of holes. Based on the presented formalism thermodynamic quantities have also been expressed using a loop summation technique in which the partition function is given in terms of characters of SNS_N. In case of the studied finite systems, the loop summation have been taken into account exactly up to the 14-th order in reciprocal temperature and the results were corrected in higher order based on Monte Carlo simulations. The obtained results suggest that the presented formalism increase the efficiency of the Monte Carlo simulations as well, because the spin part contribution of the background is automatically taken into account by the characters of SNS_N.Comment: 26 pages, 1 embedded ps figure; Phil. Mag. B (in press

    MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism

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    Objective: To identify the phenotypic, neuroimaging, and genotype-phenotype expression of MYORG mutations. Methods: Using next-generation sequencing, we screened 86 patients with primary familial brain calcification (PFBC) from 60 families with autosomal recessive or absent family history that were negative for mutations in SLC20A2, PDGFRB, PDGBB, and XPR1. In-depth phenotyping and neuroimaging investigations were performed in all cases reported here. Results: We identified 12 distinct deleterious MYORG variants in 7 of the 60 families with PFBC. Overall, biallelic MYORG mutations accounted for 11.6% of PFBC families in our cohort. A heterogeneous phenotypic expression was identified within and between families with a median age at onset of 56.4 years, a variable combination of parkinsonism, cerebellar signs, and cognitive decline. Psychiatric disturbances were not a prominent feature. Cognitive assessment showed impaired cognitive function in 62.5% of cases. Parkinsonism associated with vertical nuclear gaze palsy was the initial clinical presentation in 1/3 of cases and was associated with central pontine calcifications. Cerebral cortical atrophy was present in 37% of cases. Conclusions: This large, multicentric study shows that biallelic MYORG mutations represent a significant proportion of autosomal recessive PFBC. We recommend screening MYORG mutations in all patients with primary brain calcifications and autosomal recessive or negative family history, especially when presenting clinically as atypical parkinsonism and with pontine calcification on brain CT

    Examining Energy Efficiency Requirements in Building Energy Standards: Implications of Sustainable Energy Consumption

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    Energy efficiency factors in building codes and standards are crucial components that are prescribed to buildings to augment their energy efficiency. The objective of this study was to prioritize these vital energy efficiency factors. The present study derives its motivation from energy design and execution professionals, who face the challenge of selecting certain energy factors that may result in a trade-off over other factors. A fuzzy set theory with a decision-making trial and evaluation laboratory (DEMATEL) methodology was employed to obtain the results. A ranked list of prioritized energy efficiency factors is one of the key contributions of this research. We demonstrate that energy efficiency factors can be evaluated according to the degree of their importance. Based on the results, it was concluded that outdoor and indoor climatic conditions, air conditioning systems, orientation of buildings, and ventilation are the four most significant and highest-ranked factors that affect the energy efficiency of a building. \textcopyright 2022 Taylor & Francis Group, LLC

    MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism

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    ObjectiveTo identify the phenotypic, neuroimaging, and genotype-phenotype expression of MYORG mutations.MethodsUsing next-generation sequencing, we screened 86 patients with primary familial brain calcification (PFBC) from 60 families with autosomal recessive or absent family history that were negative for mutations in SLC20A2, PDGFRB, PDGBB, and XPR1. In-depth phenotyping and neuroimaging investigations were performed in all cases reported here.ResultsWe identified 12 distinct deleterious MYORG variants in 7 of the 60 families with PFBC. Overall, biallelic MYORG mutations accounted for 11.6% of PFBC families in our cohort. A heterogeneous phenotypic expression was identified within and between families with a median age at onset of 56.4 years, a variable combination of parkinsonism, cerebellar signs, and cognitive decline. Psychiatric disturbances were not a prominent feature. Cognitive assessment showed impaired cognitive function in 62.5% of cases. Parkinsonism associated with vertical nuclear gaze palsy was the initial clinical presentation in 1/3 of cases and was associated with central pontine calcifications. Cerebral cortical atrophy was present in 37% of cases.ConclusionsThis large, multicentric study shows that biallelic MYORG mutations represent a significant proportion of autosomal recessive PFBC. We recommend screening MYORG mutations in all patients with primary brain calcifications and autosomal recessive or negative family history, especially when presenting clinically as atypical parkinsonism and with pontine calcification on brain CT
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