Search results for "Wilson"

Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.

2019

Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to achieve a conclusive genetic diagnosis for 34 patients clinically diagnosed of WD. Genetic analysis comprised from analysis of exons to WES (whole exome sequencing), including promoter, introns, UTRs (untranslated regions), besides of study of large deletions/duplications by MLPA (multiplex ligation-dependent probe amplification). Biallelic ATP7B mutations were identified in 30 patients, so that four patients were analyzed using WES. Two affected siblings resulted to be compound…

Rho resonance, timelike pion form factor, and implications for lattice studies of the hadronic vacuum polarization

2020

We study isospin-1 P-wave ππ scattering in lattice QCD with two flavors of O(a) improved Wilson fermions. For pion masses ranging from mπ=265 MeV to mπ=437 MeV, we determine the energy spectrum in the center-of-mass frame and in three moving frames. We obtain the scattering phase shifts using Lüscher’s finite-volume quantization condition. Fitting the dependence of the phase shifts on the scattering momentum to a Breit-Wigner form allows us to determine the corresponding ρ mass mρ and gρππ coupling. By combining the scattering phase shifts with the decay matrix element of the vector current, we calculate the timelike pion form factor, Fπ, and compare the results to the Gounaris-Sakurai repr…

Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

2021

Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to the defective biliary excretion of copper. The subsequent gradual accumulation of copper in different organs produces an extremely variable clinical picture, which comprises hepatic, neurological psychiatric, ophthalmological, and other disturbances. WD has a specific treatment, so that early diagnosis is crucial to avoid disease progression and its devastating consequences. The clinical diagnosis is based on the Leipzig score, which considers clinical, histological, biochemical, and genetic data. However, even patients with an initial WD diagnosis based on a high Leipzig score may harbor other conditions th…

Development of cytochrome P450 2D6-specific LKM-autoantibodies following liver transplantation for Wilson's disease -- possible association with a st…

1999

Abstract Background/Aims: Antibodies to cytochrome P450 2D6, also knownas LKM1-autoantibodies, are characteristic for a subgroup of patients with autoimmune hepatitis, but can also occasionally be found in hepatitis C. We observed the occurrence of LKM1-autoantibodies 4 months after liver transplantation for Wilson's disease, in close association with a steroid-resistant rejection episode, in the absence of evidence for autoimmune hepatitis or hepatitis C. Methods: Sera from several time points prior to and following transplantation were tested for LKM-reactivity by immunofluorescence, ELISA and Western blotting. Antigen specificity was confirmed by Western blotting analysis on different cy…

Wilson's disease in Spain: validation of sources of information used by the Rare Diseases Registries

2021

[ES] Objetivo: Evaluar las fuentes de información empleadas por los Registros Autonómicos de Enfermedades Raras (RAER) para la captación de la enfermedad de Wilson en España, calcular su prevalencia y mortalidad, y describir las características sociodemográficas de las personas afectadas. Método: Estudio epidemiológico transversal, periodo 2010-2015. Se captaron los posibles casos mediante los códigos 275.1 (CIE-9-MC), E83.0 (CIE-10) y 905 ORPHA en 15 RAER y el Registro de Pacientes de Enfermedades Raras del Instituto de Salud Carlos III. Los diagnósticos fueron validados revisando la documentación clínica. Se calcularon el valor predictivo positivo (VPP) de las fuentes de información, la p…

Outcomes of Liver Transplant for Adults With Wilson’s Disease

2020

Wilson's disease (WD) is a rare genetic disorder with protean manifestations. Even if liver transplantation (LT) could represent an effective therapeutic option for patients with end-stage liver disease, it has remained controversial in the presence of neuropsychiatric involvement. This study aimed to examine the frequency of adult LT for WD in Italy, focusing on the disease phenotype at the time of LT. A retrospective, observational, multicenter study was conducted across Italy exploring the frequency and characteristics of adults transplanted for WD between 2006 and 2016. A total of 29 adult WD patients underwent LT during the study period at 11 Italian LT centers (accounting for 0.4% of …

Serum- und Erythrocyten-Magnesium bei renaler Insuffizienz

1963

1. Bei akuten und chronischen Niereninsuffizienzen finden sich normale und erhohte Serum-Magnesium-Werte. Eine Beziehung zwischen Serum-Magnesium und Serum-Rest-N besteht nicht.

Polynomials generated by linear operators

2004

We study the class of Banach algebra-valued n n -homogeneous polynomials generated by the n t h n^{th} powers of linear operators. We compare it with the finite type polynomials. We introduce a topology w E F w_{EF} on E , E, similar to the weak topology, to clarify the features of these polynomials.

On the zeros of Jacobi polynomials

1994

Appropriate kernels for Divisive Normalization explained by Wilson-Cowan equations

2018

The interaction between wavelet-like sensors in Divisive Normalization is classically described through Gaussian kernels that decay with spatial distance, angular distance and frequency distance. However, simultaneous explanation of (a) distortion perception in natural image databases and (b) contrast perception of artificial stimuli requires very specific modifications in classical Divisive Normalization. First, the wavelet response has to be high-pass filtered before the Gaussian interaction is applied. Then, distinct weights per subband are also required after the Gaussian interaction. In summary, the classical Gaussian kernel has to be left- and right-multiplied by two extra diagonal ma…