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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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.
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.
A very rare complication of frontal sinusitis: Pott’s puffy tumor
(Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Parlak, Furkan; Bahceci, Busra; Cam, Betul; Uzun, Ozlem; Coskun, Abuzer
Introduction. Pott’s puffy tumor is a very rare clinical condition characterized by subperiosteal abscess, a complication of frontal sinusitis, or as a result of head trauma. Aim. Early diagnosis of this condition is significantly important to prevent sequelae and severe neurological complications. This phenomenon, which is generally seen in children, can rarely be encountered in adults. Description of the case. In this report, we share a rare case of Pott’s puffy tumor in an adult patient. Conclusion. Pott’s puffy tumor, a rare complication of frontal sinusitis, should be considered to prevent neurological and intracranial complications.
Contiguous diploic veins and ıntraosseous arachnoid granulations: can they function more than necessary?
(Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Erok, Berrin; Önder, Hakan
Effect of high fat diet on structure of liver and gallbladder of adult male mice – an experimental study
(Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Hegazy, Abdelmonem Awad; Qenawy, Noura M.; Aziz, Nada M. Abdel; El-Bestawy, Emtethal M.
Introduction. High fat diet (HFD) intake induces obesity and adversely affects different body organs including liver and gallbladder. Aim. It was to clarify the effects of HFD on the liver and gallbladder structure using light microscopic (LM) examination. Material and methods. 16 healthy adult male mice were equally divided into 2 groups. Control group mice were fed normal diet. HFD group was fed using HFD. At the end of the 8-week experiment, mice were anesthetized. Liver and gallbladder were removed and prepared to histological processing. Sections were stained with hematoxylin and eosin (H&E) and immunostaining for cyclooxygenase-2 (COX-2) cellular localization. Oil Red O (ORO)-stained frozen liver sections were prepared. Results. H&E-stained sections of HFD group revealed rounded swollen hepatic cells with pale cytoplasm suggesting cellular ballooning. Dilated congested sinusoids and portal vein, cellular degeneration and collection of inflammatory cells were observed between hepatic cells and in portal region. Gallbladder sections showed epithelial stratification and cellular vacuolation. Strong immunoexpression of COX-2 was observed in Kupffer and hepatic cells of the liver and gallbladder mucosal epithelial cells. Conclusion. HFD is suggested to alter the normal histological features of liver and gallbladder represented by fatty liver and gallbladder epithelial hyperplasia and inflammatory reaction.
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.
New endoscopic treatment methods for PPI-resistant GERD
(Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Sosna, Barbara; Bartusik-Aebisher, Dorota; Cieślar, Grzegorz; Kawczyk-Krupka, Aleksandra; Latos, Wojciech
Introduction. Gastroesophageal reflux disease (GERD) is a common disease with the highest prevalence in North America. Up to 40% of patients report persistent gastroesophageal reflux disease (GERD) symptoms despite proton pump inhibitor (PPI) therapy. Aim. The aim of this article is to complete discuss the GERD characterized by heartburn and/or regurgitation symptoms. Material and methods. We discuss here the evidence for medical therapy for PPI nonresponsive GERD. Analysis of the literature. GERD may present with a variety of other symptoms, including water brash, chest pain or discomfort, dysphagia, belching, epigastric pain, nausea, and bloating. In addition, patients may experience extraesophageal symptoms like cough, hoarseness, throat clearing, throat pain or burning, wheezing, and sleep disturbances. Conclusion. There has been an increase in GERD prevalence. GERD is one of the most common gastrointestinal disorders managed by gastroenterologists and primary care physicians.
Primary leiomyosarcoma of bones – a rare entity in two different presentations
(Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Duminda, Withanage Don; Samarathunga, Dishan Randika; Anupama, Appu Arachchige Gayani Harindi; Sooriyarachchi, Rukshan; Navarathna, Paththinikuttige Alexander Gamini; Rathnayaka, Rathnayaka Mudiyanselage Ananda Sarath; Liyanage, Rubasinha Liyanage Pemith Ranura; Malhasi, Ihala Wellala Gunawardena Arachchige Labandi
Introduction. Leiomyosarcomas (LMS) originate from smooth muscle cells. They are very rare malignant neoplasms. Bony Leiomyosarcoma is a variant of spindle cell sarcoma, primarily affecting long bones, predominantly the distal femur and the proximal tibia followed by craniofacial skeleton. Aim. To describe clinical presentation and diagnostic approach of primary leiomyosarcoma of bones in two different patients. Description of the cases. Case 1. A 64-year-old male with a fracture of left distal femur after a fall was investigated and found to have a pathological fracture. An open biopsy of the fracture site confirms leiomyosarcoma. Case 2. A 58-year-old previously healthy female presented with a swelling on right side mandibular region. Orthopantomogram radiograph (OPG) of mandible and Cone beam CT (CBCT) mandible was taken initially and revealed a large area of bone destruction of the right side of the mandible associated with a soft tissue mass. Initial incisional biopsy made the diagnosis of spindle cell sarcoma followed by excisional biopsy, which confirms the diagnosis of moderately differentiated leiomyosarcoma. Conclusion. Primary leiomyosarcoma of bones is very rare. Imaging features are helpful in the evaluation of such conditions, but final diagnosis should be based on histopathologic and immunohistochemical features.
Serum levels of vitamin D and tumour necrosis factor-alpha in adults with metabolic syndrome
(Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Rahamon, Sheu Kadiri; Ganiyu, Arinola; Charles-Davies, Mabel Ayebatonyo; Akinlade, Kehinde Sola; Olaniyi, John Ayodele; Fasanmade, Adesoji Adedipe; Oyewole, Oyediran Emmanuel; Owolabi, Mayowa Ojo; Adebusuyi, Jane Roli; Hassan, Olufunke Olayemi; Ajobo, Muhammed Babatunde; Adigun, Kehinde; Ebesunun, Maria Onomaghuan; Popoola, Omolara Olutosin; Omiyale, Wemimo; Agbedana, Emmanuel Oluyemi
Introduction. Reports continue to show that a significant association exists between serum vitamin D level and metabolic syndrome (MS)-associated inflammation. However, information on the serum levels of vitamin D and alterations in inflammation in different vitamin D status is presently lacking. Aim. To determine the serum levels of vitamin D and TNF-α, and assess their possible relationship with gender in individuals with MS. Material and methods. Sixty adults with MS and 40 controls were enrolled into this case-control study. Serum vitamin D and TNF-α levels were measured and participants stratified into different vitamin D status. Results. None of the participants had vitamin D deficiency and the mean vitamin D level was similar in MS compared with the controls. However, TNF-α level was significantly higher in MS compared with the controls. Serum vitamin D level had significant inverse correlation with serum TNF-α level in MS. Also vitamin D level was significantly lower while TNF-α level was significantly higher in female-MS compared with the male-MS. Conclusion. Adults with MS have elevated TNF-α level which appears to be associated with the serum level of vitamin D. Also, females with MS have low vitamin D level and this may exacerbate the MS-associated inflammation in them.
Singlet oxygen discovery
(Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Ciesielka, Anna
Introduction. Singlet oxygen is perfectly suited to interact with biological macromolecules and cellular composition. Aim. The goal was to present an information about singlet oxygen discovery. Material and methods. In this article a narrative review regarding singlet oxygen discovery. Analysis of the literature. The desire to summarize information about generation and basic application of singlet oxygen is presented. Conclusion. The history of singlet oxygen is well documented in literature.
The Charlson Comorbidity Index: predicting readmission and severity in emergency departments
(Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Dogruyol, Sinem; Kocak, Abdullah Osman; Akbas, Ilker; Çakır, Zeynep
Introduction. The Charlson Comorbidity Index (CCI) is a comorbidity scale used widely throughout the world. Despite its widespread use, its relationship with patient readmission to the Emergency departments (ED) has not been evaluated previously. Aim. To show whether there is a correlation between the CCI score and the number of repeated admissions to ED and that the CCI score can be used as a predicted factor for the serious patients. Material and methods. This was a prospective observational cross-sectional study. Age, gender, vital signs of the patients who agreed to participate in the study was recorded. Numbers of ED readmissions of patients within six months after discharge and CCI scores have been recorded. Results. The study was completed with 1420 patients. The admission rates of patients in the ED in the six months were significantly higher in the CCI 5+ group than in other groups (p<0.05) There was a positive correlation between the number of visits and CCI scores (p<0.01; C>0). Conclusion. We believe that the CCI scoring system can be used by ED clinicians to predict the risk of readmission of patients after discharge from ED.
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.
The use of medial clavicular epiphysis ossification stages for bone age determination
(Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Win, Nu Nu; Erok, Berrin
Introduction. Bone age determination is a radiological method investigating the compatibility of ossification processes of bones with chronological ages. Aim. We aimed to investigate the use of CT staging of the medial clavicular epiphyseal ossification in bone age determination in Turkish adolescents and young adults. Material and methods. Chest CT exams of 2018 patients between 11 and 35 years of age were retrospectively evaluated for epiphyseal ossification stages of the bilateral medial clavicles (4036 clavicles) on both axial&coronal images and compared with the sex and chronologic age of the individuals in Turkey. Results. For stage 2,3 and 4 the ages of women were greater than men and it was statistically significant. For an individual classified as stage 4,it can be said with certainty that he or she has already reached the age of 18.There was no statistically significant difference between left&right sides and between the axial&coronal images.In addition, it was found that the medial clavicular head epiphyses showed a lot of variation. Conclusion. CT evaluation of the medial clavicular epiphysis ossification stages is helpful in determination of the individuals over the age of 18. Regardless of the sex, the stage 4 can be used as a criterion to make the prediction that an individual is older than 18 years.
William Harvey, discovery and life
(Wydawnictwo Uniwersytetu Rzeszowskiego, 2021) Palak, Artur

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