Search

Your search keyword '"Pazik J"' showing total 230 results
Start Over Author "Pazik J"
230 results on '"Pazik J"'

24. Delivery Method in Patients After Liver or Kidney Transplantation

Author

Madej, A., primary, Mazanowska, N., additional, Szpotańska-Sikorska, M., additional, Kociszewska-Najman, B., additional, Warzecha, D., additional, Dąbrowski, F., additional, Jabiry-Zieniewicz, Z., additional, Cyganek, A., additional, Pazik, J., additional, Wielgoś, M., additional, and Pietrzak, B., additional

Published
2018
Full Text
View/download PDF

35. First confirmation of RMND1 gene as a cause of Perrault-like syndrome.

Author

Oziębło, D., Pazik, J., Stępniak, I., Skarżyński, H., and Ołdak, M.

Subjects
*GENETIC disorders, *GENETIC variation, *GENETIC testing, *CONFERENCES & conventions, *PHENOTYPES
Abstract

Objectives: There are different genetic variants located in the RMND1 gene that are causally involved in the development of a mitochondrial disease with complex phenotype including sensorineural hearing loss (HL), hypotonia, developmental delay, lactic academia and renal dysfunction. In 2018 the first and so far the only report on association of RMND1 pathogenic variants with Perrault-like syndrome has been published. Material and methods: Patient diagnosed with progressive HL at 4 y.o., hypergonadotropic hypogonadism at 17 y.o. and chronic kidney disease at 33 y.o. and her family members were consulted at the Department of Genetics, Institute of Physiology and Pathology of Hearing. Genomic DNA was isolated from whole blood and buccal swabs samples using a standard salting-out procedure and an automatic method (Maxwell RSC Instrument, Promega, Germany), respectively. Our custom multigene panel (SeqCap EZ choice, Roche, Switzerland) encompassing 237 HL-related genes was used to prepare proband's sample library that was further sequenced on the MiSeq platform (Illumina Inc, USA). All bioinformatics and expert analysis were done and probable pathogenic variants were selected based on their population frequencies (<1%), functional consequences (e.g.: missense, frameshift, splice-site) and pathogenic predictions (CADD, LRT, FATHHM, MutationTaster, PolyPhen-2, SIFT). Results: Genetic testing revealed two novel probably pathogenic c.583G>A (p.Gly195Arg) and c.818A>C (p.Tyr273Ser) RMND1 variants, that were inherited in an autosomal recessive manner from the proband's parents. Identified variants were also present in the DNA sample from proband's sister who has also been diagnosed with HL and primary amenorrhea. Clinical reanalysis revealed that patients have no neurological or intellectual impairment, and nephrological evaluation predicts a benign course of kidney disease. Conclusions: Our results represent the first independent confirmation of RMND1 involvement in the development of Perrault-like syndrome and broaden our knowledge on phenotypic presentation of the disease. Considering the probability of mild presentation of renal phenotype in patients with RMND1 pathogenic variant, we strongly recommend inclusion of the RMND1 gene in standard genetic diagnostic process for Perrault syndrome. [ABSTRACT FROM AUTHOR]

Published
2022

45. SERUM ß1, PDGF ßß LEVELS AS THE RISK FACTORS OF SUBCLINICAL REJECTION, ARTERIOLAR HYALINIZATION, IFTA IN THE PROTOCOL RENAL ALLOGRAFT BIOPSIES.

Author

Baczkowska, T., primary, Sadowska, A., additional, Perkowska-Ptasinska, A., additional, Lewandowski, Z., additional, Cieciura, T., additional, Deborska-Materkowska, D., additional, Pazik, J., additional, Gozdowska, J., additional, Chmura, A., additional, Szmidt, J., additional, and Durlik, M., additional

Published
2010
Full Text
View/download PDF

49. SERUM TGF-β1 CORRELATES WITH CHRONIC HISTOPATHOLOGICAL LESIONES IN PROTOCOL BIOPSIES IN KIDNEY ALLOGRAFT RECIPIENTS

Author

Baczkowska, T, primary, Perkowska-Ptasińska, A, additional, Lewandowski, Z, additional, Nowacka-Cieciura, E, additional, Cieciura, T, additional, Pazik, J, additional, Lewandowska, D, additional, Mróz, A, additional, Kozińska-Przybył, O, additional, Nazarewski, S, additional, Danielewicz, R, additional, and Durlik, M, additional

Published
2004
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results