Katarína SKALICKÁ, Ľudmila PODRACKÁ: Genetic testing for personalized treatment of steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome (SRNS) is a common cause of chronic kidney disease in childhood and has a significant risk of a rapid progression to end-stage renal disease. The etiology of disease is heterogenous and may be due to defects of the immune system, genetic changes as well as presence of an unknown circulating factor. Recently, there has been significant progress in revealing the genetic etiology of SRNS. Confirmation of genetic defects allows to predict the clinical course of the disease, weaning immunosuppressive therapy, eliminate the need for renal biopsy, predict the risk of post-transplant disease recurrence, and provide antenatal as well as presymptomatic diagnosis. Genetic testing thus brought a personalized approach to the treatment and complex management of steroid-resistant nephrotic syndrome.
Key words: steroid-resistant nephrotic syndrome, monogenic disease, therapy, transplantation management, genetic testing.
Lek Obzor (Med Horizon), 2019, 68(8), 223 – 228
Róbert OCHABA, Lucia CHROMÍKOVÁ: Development of selected indicators related to the diagnosis F10 Mental and behavioral disorders caused by alcohol use
Background: Harmful use of alcohol still remains one of the leading risk factors. Available data suggest some progress in reducing harmful use of alcohol, but the reduction is still insufficient for dramatic improvement of the situation.
Material and methods: The source of this data was National Health Information Center. Results: The survey shows that during the years 2011 – 2017 the highest number of people examined with diagnosis F10.0 – F10.9 Mental and behavioral disorders caused by alcohol use was in 2012. The highest number of examined people occurred in age group 50 – 54 years with the exception of 2013. The number of examined men diagnosed with F10.0 – F10.9 Mental and behavioral disorder caused by the use of alcohol for the first time in life was higher than the number of women. In 2017 it was 5 452 men and 1 548 women who were examined. Conclusion: Alcohol-related harm (for the consumer or family members or others) includes not only a wide range of health disorders but also social problems. Responsibility for tackling alcohol-related problems is divided between different systems, professions, government departments, although alcohol problems are not a major concern for any of them.
Key words: public health, alcohol, dependence, risk factor.
Lek Obzor (Med Horizon), 2019, 68 (8), 229 – 237
Ľubomír SKLADANÝ, Silvia KASSOVÁ, Juraj ŠVÁČ: Frailty in Men hospitalized on Internal Medicine Department
Background: Internal medicine is facing new challenges, most important being the aging of the population, increasing prevalence of multi-morbidity and disability with its social consequences and fragmentation of the care between family, social and medical services. Frailty is the distinct biological syndrome first introduced in the geriatrics and characterized by the decrease in biological reserves of the organism who needed for the coping in the case of acute insult – i.e. acute illness. The presence of frailty syndrome makes all domains of prognosis in geriatric population worse. The main aim was to access the applicability and prognostic relevance of diagnosing frailty in internal medicine – in hospitalized men.
Methods: We performed a prospective observational study in consecutive male patients admitted to the department of internal medicine. We included patients who were adult, males, and signed informed consent. Interval of study: June 21, 2017 – September 21, 2017. Exclusion criteria: we excluded patients declining informed consent to participate. Predefined variables: in all the patients we recorded age, in-hospital mortality, overall mortality, length of hospital stay (LOS), re-hospitalization within six months, number of drugs – particularly psychiatric medication, the occurrence of infections, natriemia on hospital admission and the association of these variables with the diagnosis of frailty syndrome at admission. We used two validated diagnostic tools for the frailty – Prisma 7 Questionnaire (frail = 3 points and more) and Gait speed test 4 meters (frail = 5 seconds and more).
Results: We enrolled 104 male patients, with a mean age of 63 years (20 – 93). Median LOS was 7.5 days (0 – 58), the mean number of medications was 5.9 (0 – 16 generic substances); we detected psychiatric medication use in 24 patients (23 %), and infection in 34 patients (33 %), natriemia on admission was 134 mmol/l (116 – 145). The median number of points in the Prisma 7 Questionnaire was 2.6 (1 – 7), the prevalence of frailty according to Prisma 7 Questionnaire was 60.6 %. Median time in Gait Speed Test was 4.5 s (0 – 25), the prevalence of frailty according to this test was 80 %. The prevalence of frailty according to both tests was 77%. Frailty was associated with age, occurrence of infections (p = 0.02), hyponatremia od admission (p = 0.004), LOS (p = 0.02), tendency to re-hospitalizations and high overall mortality
(p = 0.02).
Conclusions: Prevalence of frailty in men hospitalized at the internal medicine department was high. The presence of frailty was associated with prognosis including mortality. The results of this pilot study lend support for a prospective study with longer duration and extended cohort.
Key words: frailty syndrome.
Lek Obzor (Med Horizon), 2019; 68 (8): 238 – 244
Dagmar NEMCSICSOVÁ, Aleksandra TOMOVA, Daniela OSTATNÍKOVÁ, Katarína BABINSKÁ: Gut Microbiota and Small Intestinal Bacterial Overgrowth
The term intestinal microbiota refers to the wide variety of microorganisms naturally residing in the digestive system of humans. They affect the functions of the gastrointestinal tract, but also other physiological functions outside the gastrointestinal system. New diagnostic methods based on sequencing of the bacterial genome have opened a wide area for research of the intestinal microbiota, and they have resulted in a growing number of scientific data on its physiological functions and interactions with the host organism in health or disease. The disruption and imbalance in the composition of the intestinal microbiota is attributed to a long list of health problems. Small intestinal bacterial overgrowth is one of the possible causes of non-specific gastrointestinal symptoms, also of some systemic presentations. It may occur on the basis of anatomical and functional changes in the intestine, but also as comorbidity of other conditions. At present time, the hydrogen and methane breath testing, based on the detection of gases produced during the bacterial fermentation of carbohydrates is most commonly used in diagnosing the condition. The central problem in the clinical praxis is the heterogeneity of the methods of testing and the evaluation of the results. It is expected that innovative methods in the study of microbiota will allow for a more objective definition of small intestinal bacterial overgrowth and they will result in new therapeutic options.
Key words: gut microbiota, small intestinal bacterial overgrowth, hydrogen and methane – based breath testing.
Lek Obzor (Med Horizon), 2019, 68(8): 245-249
Gabriela CHOWANIECOVÁ, Peter BERŽINEC, Dalibor ONDRUŠ: Current treatment options of metastatic lung cancer
Lung cancer is a frequent malignancy, mostly diagnosed in advanced stages. The disease has a high mortality. There are continual changes and progress in treatment algorithms of metastatic stage of the disease. Targeted therapy for non-small cell lung cancer with identified driver mutations and immunotherapy for non-small cell and small cell lung cancer increase treatment effectivity, prolong progression-free survival and overall survival.
Key words: small cell lung cancer, non-small cell lung cancer, treatment algorithm, targeted therapy, immunotherapy.
Lek Obzor (Med Horizon), 2019, 68 (8): 250 – 254
Igor BARTL, Peter JACKULIAK, Juraj PAYER: Significance of Vitamin D in Andrology
Recent experimental and human studies have brought ever more consistent evidence of the effects of vitamin D as a signal molecule with skeletal as well as multi-organ non-skeletal effects. Vitamin D, especially its active metabolite, calcitriol, regulates the transcription of a large amount of vitamin D dependent calcium encoding genes, transport proteins and bone matrix proteins. The breakthrough results have led to research into the regulatory domains of vitamin D, which has focused on androgenic and gonadal functions in recent decades. The reproductive role of vitamin D in men is highlighted by the expression of the vitamin D receptor and the enzymes that metabolize vitamin D in the testis, male reproductive tract and human sperm. Cumulative evidence from both animal and human studies suggests that one of the other composite markers of male (and sexual) health and quality of life may also be vitamin D status. Better titration of both vitamin D and testosterone and the identification of individual treatment acceptance, in addition to taking into account the personalized vitamin D response index, could lead to the screening of vitamin D receptors and the androgen receptor polymorphisms in the future. Positive correlations of low-vitamin D androgens accompanied by a pathological semen analysis, whether proven testicular dysgenesis, are associated with a decrease in life expectancy and a potential risk of serious concomitant disease.
Key words: vitamin D, testosterone, composite biomarkers, infertility, male sexual health.
Lek Obzor (Med Horizon), 2019, 68 (8): 255 – 260
Marián BERNADIČ, Jozef ROVENSKÝ, Michal BERNADIČ, Jr.: Antiphospholipid syndrome
Antiphospholipid antibodies were found mainly in the serums of patients with systemic lupus erythematosus (prevalence of 20 – 50 %). The combination of antiphospholipid antibodies with thrombosis, spontaneous abortion and thrombocytopenia received the name of antiphospholipid syndrome. For the determination of antiphospholipid antibodies, three main tests are used – biological, inhibition of blood coagulation and immunoanalysis. The exact mechanism by which antiphospholipid antibodies induce clinical manifestations of antiphospholipid syndrome is still unknown. The diagnosis of Antiphospholipid syndrome is based on both clinical and serological criteria.
Key words: antiphospholipid syndrome, antiphospholipid antibodies, thrombosis, spontaneous abortion, thrombocytopenia.
Lek Obzor (Med Horizon), 2019, 68 (8): 261-265