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

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http://repozytorium.ur.edu.pl/handle/item/7577

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    Contiguous diploic veins and ıntraosseous arachnoid granulations: can they function more than necessary?
    (Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Erok, Berrin; Önder, Hakan
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    William Harvey, discovery and life
    (Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Palak, Artur
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    Mirror aneurysm of ICA terminus associated with adult polycystic kidney disease
    (Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Erok, Berrin; Win, Nu Nu; Can, Orçun; Çizmeli, Muzaffer Olcay
    Introduction. Bilatereal saccular cerebral aneurysms (SCAs) that developed symmetrically on the same named vessels are defined as mirror aneurysms and account for a small subset of multiple cerebral aneurysms. The internal carotid artery (ICA) bifurcation is a rare location for mirror aneurysms. Aim. We aimed to present the importance of risk status assessment for SCAs and screening in all ADPKD patients for timely detection and managementof SCAs before catastrophic complications occur Description of the case. We present mirror aneurysms of bilateral ICA bifurcation that appear like a couple of dancing men on coronal computed tomography angiography (CTA) images, which were successfully treated with single stage coil embolization in a 45 year old female patient with medical history of autosomal dominant policystic kidney disease (ADPKD). Conclusion. SCAs are more frequent in patients with ADPKD than in general population and also these aneurysms are more likely to rupture at earlier ages. Mirror aneurysms of ICA terminus can be treated effectively and safely by single stage coil embolization.
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    A long clinical course with late distant metastases from follicular thyroid carcinoma
    (Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Erok, Berrin; Harmancı, Kemal; Aksaray, Ferdi; Unlu, Nazmi Uğur; Aydın, Seckin
    Introduction. Follicular thyroid carcinoma (FTC) accounts for 10-20% of the differentiated thyroid carcinomas (DTCs), and it is the second most common thyroid malignancy after papillary thyroid carcinoma (PTC). FTC is typically more common in women and in older age group than PTC. Unlike PTC, FTC metastases late to the lymph nodes, with only up to 10-20% of the patients having nodal metastases at the time of diagnosis.On the other hand, distant metastasis via hematogenous spread is more likely in patients with FTC due to the invasion of blood vessels. Prognosis depends on the extent of the distant metastasis which drop 10-year survival significantly. Aim. Although DTCs have usually favorable prognosis, metastatic disease in these patients has a long clinical course. Cranial imaging in these patients should be performed during the follow-up after the treatment of FTC with thyroidectomy and RAI. Description of the case. We report a case of late onset but catastrophic hematogenous distant metastases beginning 8 years after the diagnosis & treatment of FTC and becommimg widespread during the following 10 years with a long clinical course in a 60 year old female patient. Conclusion. In the RAI refractory metastatic lesions SRS and surgical resections should be conserned as the first management approach to improve survival.
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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.