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- PozycjaFibrodysplasia Ossificans Progressiva – a presentation of cases and literature review(Wydawnictwo Uniwersytetu Rzeszowskiego, 2019) Dąbrowska, Małgorzata; Dąbrowski, Piotr; Tabarkiewicz, JacekIntroduction. Fibrodysplasia ossificans progressiva (FOP) is a very rare inherited disease leading to progressive ectopic ossification of muscle and soft tissue and resulting in severe immobilisation and premature death. The mutations in ACVR1 gene that codes the 1A activin receptor which belongs to the family of bone morphogenetic proteins (BMPs) are leading to clinical symptoms. Aim. In this raport we present 3 cases of paediatric FOP patients presenting varied clinical course of disease. Description of the cases. Case 1. A girl, currently 5 years old, was hospitalised for the first time at the age of 10 months with suspicion of a hyperplastic lesion of the left lumbar area. The time period between the first symptom, i.e. subcutaneous oedema, and the correct diagnosis was about 8 months. The symptom with key importance for the diagnosis was congenital deformities of the thumbs and big toes. Case 2. A 6-year-old girl with a congenital hallux valgus in both feet, a small painless nodular lesion in the area of the distal metaphysis of the femur, limiting the flexion of the knee joint, was diagnosed in the third month of life. Case 3. A three-year-old girl was diagnosed with congenital defects i.e. hallux valgus of both feet. The first symptoms of the disease occurred during her 14th month when an oedema of the subcutaneous tissue of the nape area was observed. Conclusion. Until recently, there has been no efficient therapy which could slow down the natural course of the disease and currently the disease is treated as incurable. Of key importance from the perspective of patients is early diagnosis and, more importantly, preventing traumas, surgical procedures, intramuscular injections, sparing dental treatment and ensuring avoidance of airway tract infections.
- PozycjaAcute pulmonary hypertension as a symptom of Bard’s syndrome and pulmonary lymphangitis carcinomatosa – rare manifestation of malignant gastric cancer(Wydawnictwo Uniwersytetu Rzeszowskiego, 2019) Mazur, Danuta; Romanek, Janusz; Filip, Rafał; Przybylski, AndrzejIntroduction. Acute pulmonary hypertension leading to right ventricular failure and circulatory collapse is usually caused by a pulmonary embolism. However, in extremely rare cases, similar clinical manifestations can be related to another diseases, such as lymphangitis carcinomatosa. Aim. The purpose of this paper is to report on the case of a 29-year-old male patient presented with rapidly progressing dyspnoea. Description of the case. The diagnosis of pulmonary embolism was made on the basis of echocardiographic signs of pulmonary hypertension and right ventricular (RV) dilatation, and the recommended therapy was introduced. On the suspicion of bronchopneumonia, antibiotics and steroids were applied. However, the previously stated diagnosis of pulmonary embolism was not confirmed by the angio-CT scan, which showed small diffusive lung parenchyma intra-biliary nodules (ground glass opacity) with the peripheral appearance of a tree-in-bud sign. Consecutive CT of pelvis and abdomen along with endoscopy revealed a metastatic gastric cancer with the presence of lymphangitis carcinomatosa and miliary dissemination to the lungs. The presence of pulmonary metastases in the course of disseminated gastric cancer is known in literature as Bard’s syndrome. Conclusion. Extrapulmonary malignancies, particularly gastric cancer, should be taken into consideration in differential diagnosis in patients with an acute right ventricular failure and nonspecific lesions in the respiratory system.
- PozycjaGlycosaminoglycan concentration in cancer tissue(Wydawnictwo Uniwersytetu Rzeszowskiego, 2019) Bar, Piotr; Galiniak, Sabina; Bartusik-Aebisher, Dorota; Filip, Rafał; Aebisher, DavidIntroduction. Glycosaminoglycans (GAGs) play a widespread role in tissue modelling. GAG polymers may affect several receptor pathways in parallel. Aim. To present difference in concentration of GAG in healthy and cancer tissues. Material and methods. The literature search was performed nd reviewed using selected keywords. Results. We revieved the methods of detection various types of glycans measured by Magnetic Resonance Imaging. Conclusion. MRI methodology provides an efficient tool forstudy of cellular composition. The use T1 aof T2 measurements to study cancer tissue is a promising assay.
- PozycjaWhat is the unique nature of the Huntington’s Disease?(Wydawnictwo Uniwersytetu Rzeszowskiego, 2019) Bartoszek, Adrian; Szalast, KamilIntroduction. Huntington’s disease is a rare neurodegenerative disease, inherited in an autosomal dominant manner. Every child in the family whose parent is a carrier of the mutant gene has a 50% risk of inheriting the disease. Genetic tests unambiguously confirm whether a person at risk is ill or not. Symptoms include movement, neuropsychiatric and cognitive disorders. Currently, the disease is incurable and there are no effective methods for its treatment. Aim. The aim is to present information about Huntington’s disease, its inheritance, symptoms and pathologies, as well as to draw attention to its unique impact on patients and their families. Material and methods. A literature review of the following databases has been conducted: PubMed, Science Direct, EBSCO, Springer Link. Results. Huntington’s disease, due to the autosomal dominant inheritance, disturbs the whole family system. Over several generations, a family can struggle with the problems of taking care of several patients at the same time, providing children with information about the risk of falling ill, making decisions about genetic testing, and starting a family or having children. Conclusion. Huntington’s disease is a challenge for healthcare professionals who are not always prepared to solve unique, multi-generational problems in families with Huntington’s disease.
- PozycjaLabial salivary gland biopsy in the diagnosis of Sjögren’s syndrome(Wydawnictwo Uniwersytetu Rzeszowskiego, 2019) Błochowiak, Katarzyna; Sokalski, JerzyIntroduction. Labial salivary gland biopsy is used for diagnosis of Sjogren’s syndrome (SS) and lymphoma accompanying SS. Aim. The aim of this study was to present the main techniques used for taking labial salivary gland biopsies in the diagnosis of SS with respect to their advantages, histologic criteria, validation, complications, and their usefulness for diagnostic procedures, monitoring disease progression, and treatment evaluation. Material and methods. This study is based on analysis of literature. Results. The microscopic confirmation of SS is based on the presence of focal lymphocytic sialadenitis (FLS) with a focus score ≥1 per 4 mm2 of glandular tissue. A lymphocytic focus is defined as a dense aggregate of 50 or more lymphocytes adjacent to normal-appearing mucous acini in salivary gland lobules that lacked ductal dilatation. Other histopathological features of SS are lymphoepithelial lesions and a relative decrease of <70% IgA + plasma cells. Labial salivary gland biopsy is characterized by high specificity, a positive predictive value, and an average sensitivity of 79% in SS. Conclusion. It can be also valuable in diagnosing B-cell mucosa-associated lymphoid tissue (MALT) lymphomas but it is not recommended for the monitoring of SS progression and the effectiveness of the treatment. Persistent lower lip hypoesthesia is the most severe complication of labial salivary gland biopsy.