Clinical Case Reports for the Evidence-Based Era

Malignant melanoma of the skin usually has a dramatic course and the prognosis is usually not successful. For this reason, the case of a patient with a 55-year survival after being diagnosed with the said cancer cancer is a relatively unusual event. In an attempt to explain this case, we used a comet assay on the patient's peripheral lymphocytes in between surgical procedures, with γ-ray irradiation of the cells at a dose of 2Gy, compared to two other melanoma patients and four healthy subjects. In both of these comparative melanoma patients, we found increased relative to healthy subjects healthy individuals baseline DNA damage combined with reduced damage repair capacity. The patient, described in this paper, admittedly showed greater radiation damage to genetic material than control patients and healthy subjects, but the kinetics of DNA break repair DNA after a 180-minute incubation was significantly higher in him. Consistent with the hypothesis of a relationship between polymorphisms of cytochrome P-450 genes, encoding detoxification enzymes, with susceptibility to melanoma, we genotyped CYP2D6 (*3,*4), CYP2C9 (*2, *3), CYP2C19 (*2) using the TaqMan technique, showing that with the exception of CYP2C9*2, all other genotyped loci were heterozygous.

Advances in medicine, especially the use of invasive techniques for diagnosis and treatment, have increased the risk of developing sepsis. Sepsis (Gr. sepsis - decay) in Polish also referred to as septicemia is a generalized inflammatory response syndrome (SIRS) to infection, an episode involving invasion by pathogenic microorganisms such as bacteria, viruses, fungi and others, which triggers a defensive response. SIRS (systemic inflammatory response syndrome) is diagnosed on the basis of two or more of a group of clinical symptoms, changes in hemodynamic, hematological and biochemical parameters, and signs of inflammation: fever - temperature 38oC or in severe cases hypothermia 36oC, tachycardia - heart rate 90/min, tachypnoe - respiratory rate 20/min, arterial blood oxygen partial pressure 32 mmHg, leukocytosis - 12,000 or leukopenia 4,000 cells/ml or 10% immature forms. Septicemia in newborns is most often caused by Escherichia coli and group B streptococcus.

Gaucher disease is a rare metabolic disease caused by a genetically determined deficiency or lack of lysosomal β-glucocerebrosidase activity. The following occurs glucocerebrosidase storage, with clinical consequences. Based on the history of of four patients with Gaucher disease and the current state of knowledge, we considered the problem of diagnosis and we evaluated the effectiveness of standard therapy

Tako-tsubo cardiomyopathy, otherwise known as ballooning apical syndrome, is preceded by most often by tremendous psychological or physical stress. With its clinical picture, as in the case described, it usually mimics acute coronary syndrome. Of decisive importance is urgently performed angiography of the coronary arteries, in which there are no lesions. In addition, the disease can be confirmed by imaging studies (echocardiography, magnetic resonance imaging of the heart with contrast), which usually show akinesis of the apical and middle segments of the left ventricle and reduced ejection fraction. Very important for the course of the disease is its early diagnosis, because despite rapid improvement after combined treatment with β-blockers and angiotensin-converting enzyme inhibitors and rest, life-threatening complications can occur in the early stages of the disease. The patient is at risk for pulmonary edema, cardiogenic shock, and the development of life-threatening arrhythmias. We present the case of a 72-year-old patient who was diagnosed with tako-tsubo cardiomyopathy, despite the initial diagnosis of acute coronary syndrome. She was at risk for pulmonary edema, but such a complication did not occur. It is very important, that when diagnosing acute coronary syndrome, other possible causes of chest pain, this significantly facilitates the diagnosis and treatment of