Casopis lekaru ceskych最新文献

The international panel of experts has issued a joint consensus opinion on the possibilities of clinical use of gut microbiome analysis with an unequivocal conclusion: The microbiome is an important component of the human body, and its condition is indisputably related to human health. However, the methodology of microbiome composition analysis has not yet been standardized and the interpretation of the results regarding the health of the individual is not yet sufficiently conclusive. Therapeutic counseling based on the results of microbiome testing is strongly discouraged. Further research is required for widespread use in clinical practice.

Dyslipidemias are mostly considered to be diseases with mass incidence. However, there are also several dyslipidemias that occur within the framework of rare diseases. Most of them are genetically determined. In this review, we have focused on three selected diseases for which new therapy is available and significantly change prognosis of the patients. Homozygous familial hypercholesterolaemia is associated with extreme elevation of LDL cholesterol, leading to premature manifestation of atherosclerotic cardiovascular disease in the first decade of life. Thanks to new hypolipidemic drugs such as evinacumab and lomitapide, patients today have a much better prognosis than in the past. Lipodystrophies are a heterogeneous group of diseases characterized by progressive loss of adipose tissue leading to metabolic abnormalities. Due to new causal metreleptine therapy, we can help patients with managing these metabolic complications significantly. Familial chylomicronemia is not associated with an increased risk of atherosclerotic cardiovascular disease, but it is accompanied by extremely high levels of triglycerides, leading to frequent attacks of acute pancreatitis, which can be potentially fatal. Therapy with volanesorsen leads to a reduction of hypertriglyceridemia, thereby reducing the risk of developing acute pancreatitis. Although these diseases are rare, it is necessary to think about them and diagnose them early. Interdisciplinary cooperation is essential during search and treatment of these patients.

The administration of antibiotics is associated with the risk of diarrhea due to disruption of the natural gut microbiome, a condition that may persist for several months after the completion of treatment. Probiotics are often used to prevent antibiotic-associated diarrhea; however, their effectiveness in this indication remains a subject of discussion. Meta-analyses confirming the benefits of probiotics are critically assessed by the professional community, and for a long time, their administration was not included in the recommended practices of professional societies. The situation changed in 2023 when probiotics were included in the recommended practices of the World Gastroenterology Organization. This article focuses on the possibilities of administering probiotics in the Czech context, emphasizing currently available medicinal products, their composition, benefits, and potential risks.

Our study aimed to determine the prevalence of five polymorphisms of haemostatic genes rs6025 (F5, Leiden), rs1799963 (F2, prothrombin), rs2066865 (FGG), rs2289252 (F11), and rs8176719 (ABO), in 2 cohorts of 924 men and 1,706 women who had venous thromboembolism (VTE), and to compare their occurrence with that in two control groups of healthy individuals (1,516 men and 1,121 women) with no history of VTE in the Czech Republic. Statistically significant increases in the prevalence of rs6025 (F5), rs1799963 (F2), rs2066865 (FGG), rs2289252 (F11) and rs8176719 (ABO) were found in both groups of men and women compared to controls (all p ˂ 0.0001). Both F5 Leiden variants increase the risk of VTE. In male homozygotes 70.56-fold, in male heterozygotes 5.45-fold; in female homozygotes 18.8-fold and in female heterozygotes 5.58-fold. For rs1799963 (F2), the risk of VTE was statistically significantly increased only in the heterozygous variant (3.86-fold in males and 3.95-fold in females). Mutated homozygotes could not be evaluated due to their rare occurrence in the sample. An increase in the risk of VTE of the rs2066865 (FGG) variants was again observed in males (1.8-fold in homozygotes, 1.17-fold in heterozygotes) and females (1.88-fold in homozygotes, 1.32-fold in heterozygotes). Derived variants of rs2289252 (F11) also increased the risk of VTE (1.8-fold in male homozygotes and 1.5-fold in male heterozygotes;1.73-fold in female homozygotes and 1.35-fold in female heterozygotes). Again, we found a higher risk of VTE in individuals with VTE when mutant variants of rs8176719 (ABO) were present. In male homozygotes, it was 4.03-fold and in heterozygotes 2.38-fold. In homozygous women, it was 3.16-fold and in heterozygotes 2.11-fold. Conclusions: Our study confirms that in the Czech Republic, in addition to the known thrombophilic mutations rs6025 (F5) and rs1799963 (F2), there is also a higher prevalence of polymorphisms of the haemostatic gene rs2066865 (FGG), rs2289252 (F11) and rs8176719 (ABO) in both sexes, which can therefore be identified as additional independent heritable risk factors for the VTE.

Obesity is a chronic, relapsing, and progressive disease with increasing prevalence, that significantly impacts health and quality of life, even in children. It is associated with an increased risk of metabolic and cardiovascular diseases such as insulin resistance, type 2 diabetes mellitus, hypertension, dyslipidemia, and metabolic dysfunction-associated steatotic liver disease. Additionally, obesity can lead to the development of sleep apnea syndrome, orthopedic issues, and psychological complications. The cornerstone of the care is educating the whole family about a healthy lifestyle; however, this may often be challenging due to obstacles such as time constraints, limited access to specialists, and low long-term adherence of families. Telemedicine offers an innovative approach to improving obesity treatment in children through digital tools, online consultations, smart applications, and wearable technologies. It enables more effective monitoring of dietary and physical activity habits, supports mental health, and reduces time and financial burdens for families. Studies indicate that combining in-person and remote support, along with active involvement of family members, leads to higher success rates in weight reduction and a healthy lifestyle maintenance. This article focuses on the use of telemedicine in the treatment of obesity in children, providing an overview of the methods applied in this field and their effectiveness in the context of current scientific knowledge.

In this interdisciplinary consensus of four medical societies dealing with thrombophilic disorders, we summarize the rules of diagnosis and care of patients with congenital or acquired thrombophilias, i.e. factors increasing the risk of venous thromboembolic disease. The primary goal is to standardize the care of these patients with respect to the rules of evidence-based medicine. The recommendations imply under which circumstances, in which clinical situations, for which patients and which tests it is useful to investigate which thrombophilias and when not. Despite the long history and very good availability of diagnostic tests for individual thrombophilias, no similar recommendation has been published in the Czech Republic.