Dominika Nesteruk

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The aim of this study was to evaluate the prognostic value of circulating tumor cells (CTC) in nonmetastatic rectal cancer patients treated with short-term preoperative radiotherapy. In this single-center trial, 162 patients with rectal cancer after preoperative short-term radiotherapy (5 × 5 Gy) were recruited from January, 2008 to September, 2011.(More)
BACKGROUND Acral peeling skin syndrome (APSS) is a rare skin fragility disorder usually caused by mutations in the transglutaminase 5 gene (TGM5). METHODS We investigated the mutation spectrum of APSS in the U.K., Germany and Poland. RESULTS We identified 59 children with APSS from 52 families. The phenotype was readily recognizable, with some variation(More)
Cystic fibrosis is one of the most common recessively inherited monogenic disorders in the Caucasian population. The disease develops when pathogenic mutations of the CFTR gene, encoding a transmembrane conductance regulator, are present in both alleles. Cystic fibrosis is a multi-organ disease with heterozygous clinical course. High mortality of the(More)
We present a case of 3-year-old Caucasian boy who developed monthly cyclic attacks of skin peeling of the palms and soles over 1.5 years. The skin peeling was associated with hypercalciuria. No mutation was present in TGM5 and CSTA genes, but the typical clinical picture and the biopsy from flaccid blisters on the feet confirmed the acral peeling skin(More)
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