European Journal of Clinical and Experimental Medicine T.19, z. 4 (2021)

URI dla tej Kolekcjihttp://repozytorium.ur.edu.pl/handle/item/7577

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Przeglądanie European Journal of Clinical and Experimental Medicine T.19, z. 4 (2021) według Autor "Aebisher, David"

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    A 16-year-old patient with Charcot Marie Tooth disease in variant c.217G>C of the INF2 gene and focal glomerulosclerosis – a case report
    (Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Przygoda, Maria; Matias, Dawid; Jurczak, Maciej; Sokołowska, Aldona; Raba, Karolina; Wołkanowski, Juliusz; Rydzanicz, Małgorzata; Kosińska, Joanna; Płoski, Rafał; Aebisher, David; Pyrkosz, Antoni
    Introduction. Charcot Marie Tooth disease (CMT) is currently one of the most commonly diagnosed and commonly hereditary sensorimotor neuropathies. Concluding from the literature, this is the first study describing the case of a patient with CMT disease in the c.217G> C variant of the INF2 gene and focal segmental glomerulosclerosis. Aim. To present a case of a 16-year-old patient suffering from CMT disease in variant c.217G> C of the INF2 gene and focal glomerulosclerosis. Description of the case. The text describes the CMT disease in a patient who underwent the WES / WGS-NGS genetic test and found a mutation within the INF2 gene at the chromosomal position hg38 14: 104701582-G> C, cDNA level c.217 G> C , notation at the p protein level (Gly73Arg). Genotype record according to Human Genome Variation Society: NM_022489.4: c. [217G> C]; [217 =]. The publication includes data on genetics, molecular mechanisms of the disease, diagnostic methods, rehabilitation and surgical treatment. Conclusion. CMT disease is a heterogeneous group of diseases caused by mutations in various genes. The incidence of this pathology has increased significantly in the last century. Currently, there are no treatments available to combat this disease, and symptomatic treatment is the only treatment available.
  • Obrazek miniatury
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    The role of new biomarkers for the diagnosis and treatment of colon cancer
    (Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Czarnecka-Czapczyńska, Magdalena; Bartusik-Aebisher, Dorota; Krupka-Olek, Magdalena; Aebisher, David; Cieślar, Grzegorz; Latos, Wojciech; Kawczyk-Krupka, Aleksandra
    Introduction. Colorectal cancer may be benign or malignant. According to the World Health Organization and CDC, it is the second most common cancer worldwide, after lung cancer. The mortality of colorectal cancer has been dropping for more than 20 years due to the improvements in screening techniques and treatments. Aim. The aim of this article is to discuss the role of new biomarkers for the diagnosis and treatment of colon cancer. Material and methods. This article is a review done in regards to discuss the role of new biomarkers for the diagnosis and treatment of colon cancer. Analysis of the literature. A review is discussed the role of new biomarkers for the diagnosis and treatment of colon cancer using current literature. Conclusion. The screening tests based on diagnostic new biomarkers may cause faster detection of cancer and risk factors, and provide prognostic information in order to adjust individual therapy.