How Does ADPKD Severity Differ Between Family Members?

Thousands of pathogenic variants in more than 100 genes can cause kidney cysts with substantial variability in phenotype and risk of subsequent kidney failure. Despite an established genotype-phenotype correlation in cystic kidney diseases, incomplete penetrance and variable disease expressivity are present as is the case in all monogenic diseases. In family members with autosomal dominant polycystic kidney disease (ADPKD), the same causal variant is responsible in all affected family members; however, there can still be striking discordance in phenotype severity. This narrative review explores contributors to within-family discordance in ADPKD severity. Cases of biallelic and digenic inheritance, where 2 rare pathogenic variants in cystogenic genes are coexistent in one family, account for a small proportion of within-family discordance. Genetic background, including cis and trans factors and the polygenic propensity for comorbid disease, also plays a role but has not yet been exhaustively quantified. Environmental exposures, including diet; smoking; alcohol, salt, and protein intake, and comorbid diseases, including obesity, diabetes, hypertension, kidney stones, dyslipidemia, and additional coexistent kidney diseases all contribute to ADPKD phenotypic variability among family members. Given that many of the factors contributing to phenotype variability are preventable, modifiable, or treatable, health care providers and patients need to be aware of these factors and address them in the treatment of ADPKD.

Potential problem of the co-occurrence of pandemic COVID-19 and seasonal influenza.

In times of COVID-19 pandemics, the upcoming period of the year when influenza activity usually increases in the Northern Hemisphere brings new medical and public health challenges. These challenges include the risk of mixed infections and/or a possible collision of the two epidemics (“twindemia”) with a potentially serious impact on individual health and public health. In this report, we discuss the results of the published stu-dies and conclude that the catastrophic collision of the seasonal influenza and COVID-19 epidemics is unlikely when efficient non-pharmaceutical public health measures are applied to control or mitigate the spread of the COVID-19 epidemic. This conclusion is supported by several lines of evidence, including the extremely low seasonal influenza activity registered in the Southern Hemisphere in 2020. On the other hand, the existence of mixed SARS-CoV-2 and influenza virus infections has been demonstrated in humans. The continuing uncertainty about the occurrence and potential severity of these mixed infections emphasizes the importance of seasonal influenza vaccination in the current epidemiological situation and raises the need to: (i) ensure vaccine availability, (ii) facilitate access to safe seasonal influenza vaccination under the conditions of the ongoing COVID-19 epidemic, and (iii) promote the vaccine to the public.

Murine experimental models for studying the pathogenesis of coxsackieviruses.

Understanding the pathogenesis of communicable diseases often involves animal models. Mouse models are studied by researchers to achieve a better understanding of the relationship between the biological, physiochemical, and antigenic properties of the infectious agent, as well as the histopathological, immunological, and functional changes in the living system and the target organs, in short, the pathophysiological processes that the communicable agents bring about. The long-term objectives of the in vivo studies are important from a medical point of view, as they represent faithful (reliable and similar) human responses, which enhance the development of diagnostics, treatment, and measures for preventing the spread of the disease. Our work is devoted to the murine models used for understanding the pathogenesis of coxsackieviruses. We describe different mouse models used for studying the diseases caused by coxsackieviruses and the immune responses in different mouse models.  We then shortly elucidate experiences from our laboratory related to the oral route of infection, and compare the similarities and differences we found in this model. Keywords: pathogenesis; coxsackievirus; murine models.

Microorganisms named after geographical locations and personal names of Czech and Slovak microbiologists.

A review is presented of achievements of Czechoslovak, Czech, and Slovak microbiologists in the identification of microorganisms named after geographical locations or their discoverers. Without a fortunate coincidence of circumstances and the rigorous work of microbiologists, there could be gaps in our scientific knowledge we use to our benefit and which will always remain part of the heritage in the area of microbiology of both nations - Czechs and Slovaks. . KEYWORDS: microbiology - history - geography - Czechoslovak microbiologists - bacteria - viruses.

[Foodborne botulism - a re-emerging public health challenge]. / Alimentárny botulizmus - staronová výzva pre verejné zdravotníctvo.

Human foodborne botulism is an intoxication caused by ingestion of botulinum neurotoxins (BoNT) of serotypes A, B, E, and rarely also serotype F, produced in contaminated food by anaerobic bacteria Clostridium botulinum group I, group II, or by toxigenic strains of C. butyricum and C. baratii. BoNT-producing Clostridia are ubiquitously distributed in the environment and, under suitable conditions, they can enter the food chain, proliferate and produce BoNT in a variety of foods. In the past, the risk of foodborne botulism was primarily associated with homemade canned foods; however, the epidemiological importance of commercial and restaurant food is increasing nowadays. In this article, we review the public health aspects of foodborne botulism, including its clinical, epidemiological and laboratory diagnosis and discuss potential risks associated with minimally heated, vacuum or modified atmosphere-packed, ready-to-eat foods of extended durability.

Human enterovirus surveillance in the Slovak Republic from 2001 to 2011.

We report the outcome of an 11-year programme monitoring sewage water and acute flaccid paralysis (AFP) cases as part of the World Health Organization (WHO) strategy for polio eradication in the Slovak Republic (SR). Polioviruses (PV) and non-polio enteroviruses (NPEV), prior to and after the change in polio vaccination strategy, were detected. Sewage treatment plant samples from 48 localities spread over the Western, Central and Eastern regions and clinical material from AFP cases were examined. The WHO standard procedures were followed with regard to virus isolation and identification. There were 538 commonly detected human enteroviruses (HEVs) including 213 (40%) coxsackie B viruses (CBV), 200 (37%) echoviruses and 113 (21%) Sabin-like PVs (PV1, 2, 3) including vaccine-derived poliovirus (VDPV) isolates. The percentage of PV isolates fell from 66% to 30% during 2001-2005 and thereafter fell to zero. CBV5, CBV2 and echovirus 3 were the NPEVs endemic during the study period.

[Laboratory diagnosis of pandemic influenza at the Department of Medical Microbiology of the Regional Authority of Public Health based in Banská Bystrica in the season 2009-2010]. / Laboratórna diagnostika pandemickej chrípky na Odbore lekárskej mikrobiológie Regionálneho úradu verejného zdravotníctva so sídlom v Banskej Bystrici v sezóne 2009/2010.

UNLABELLED: The Department of Medical Microbiology of the Regional Authority of Public Health (RAPH) in Banská Bystrica serves as a catchment laboratory of virology for the Central Slovakia Region, and in the influenza season 2009/10, it also served as such for the East Slovakia Region. MATERIAL AND METHODS: Specimens (nasopharyngeal swabs and post-mortem specimens) from patients with suspected influenza were obtained from both sentinel and non-sentinel physicians. The specimens were analyzed by a rapid test, followed by real-time PCR (RT-PCR) for influenza A or B diagnosis. RT-PCR subtyping for pandemic influenza A/H1N1 was performed. RESULTS: From May 2009 to June 2010, 2497 specimens were analyzed for the presence of influenza A and B viruses and in particular for the presence of pandemic influenza A/H1N1 virus. As many as 537 of 589 influenza A-positive specimens, i.e. 21.5% of all specimens analyzed and 91.2% of influenza A-positive specimens, were subtyped as pandemic influenza A/H1N1. CONCLUSION: In the influenza season 2009/10, the new pandemic influenza A/H1N1 clearly predominated in Central and Eastern Slovakia. PCR tests have played a key role in diagnosing patients with suspected pandemic influenza in the laboratory participating in the surveillance of influenza and influenza-like illness in the Slovak Republic.

[Laboratory diagnosis of toxoplasmosis]. / Laboratórna diagnostika toxoplazmózy.

Under Central European climatic conditions, toxoplasmosis is one of the most common human parasitic diseases. A wide range of methods for both direct and indirect detection of the causative agent are currently available for the laboratory diagnosis of toxoplasmosis. The purpose of the article is to review the history of the discovery of the causative agent of toxoplasmosis and how laboratory diagnostic methods were developed and improved. The main emphasis is placed on current options in the diagnosis of Toxoplasma gondii, more precisely on the serodiagnosis and new trends in molecular biology-based techniques.

[Diagnosing of Acanthamoeba keratitis]. / Diagnostika akantamébovej keratitídy.

Acanthamoeba keratitis is rare corneal disease, its etiology is caused by amoebae of the Acanthamoeba spp. In this paper, the newest findings about the diagnostic and treatment procedures of the disease and epidemiology and preventive issues from the point of public health are presented. The article presents results of the water quality monitoring (according to the Acanthamoeba which is possible to cultivate at 36 degrees C and 44 degrees C) in man-made swimming pools during the period 2004-2008 at the Department of environmental biology of the Regional Public Health Institute in Banská Bystrica, Slovakia, E.U. The examination methods present the techniques of the clinical sampling and taking samples from the environment. The results underline the use of the new effective criteria in controlling of recreational resorts as well as changes of the legal criteria for the water quality used by the public. The results show that the presence of Acanthamoeba spp. in the environment is common, so the water monitoring is perceived as substantial preventive issue to prevent the disease to emerge. The collaboration between the public heath departments and ophthalmologists during the examination of the clinical and environmental samples may help to prevent and diagnose the Acanthamoeba keratitis.

Seroprevalence of Toxoplasma gondii antibodies in the Slovak Republic.

One-thousand eight-hundreds forty-five individuals were examined for the presence of Toxoplasma gondii antibodies, 31.3 % prevalence of them being found by using the complement fixation test as a screening method. The determined total antibodies were present mainly in low titers which show evidence of past or latent infection. The acute stage of toxoplasmosis by the detection of specific IgM and IgA was diagnosed. The occurrence of acute toxoplasmosis in the healthy population is very low and presents only at 0.3 %. There was no significant difference between genders (p = 0.232), but significant differences in the prevalence of toxoplasmosis depending on age (p < 0.001) and regions (p = 0.007) were found.

[Prevalence of hepatitis C virus infection in Slovakia]. / Prevalencia infekcie vírusom hepatídy C v Slovenskej republike.

OBJECTIVE: To assess the prevalence of hepatitis C in the general Slovak population without any further evaluation or risk group stratification. MATERIAL AND METHODS: A total of 3,608 remnant serum specimens from epidemiological surveys in 1997 (1,484 specimens) and 2002 (2,124) were analyzed. These were from randomly selected persons over 15 years of age from all over Slovakia. The anti-HCV antibodies were detected using the 4th generation ELISA test. In case of positive or borderline results, the presence of HCV RNA was determined qualitatively. RESULTS: Of the 3,608 analyzed specimens, 55 (1.52 %) were anti-HCV-positive and 10 (0.28 %) were borderline positive. HCV RNA was detected in 24 cases (0.67 %). A comparison of the 1997 and 2002 results showed a statistically significant (p < 0.01) increase of anti-HCV-positive specimens. A similar--but not significant--increase was noted in HCV RNA-positive cases. Despite a slightly higher prevalence of HCV infection in females, no statistically significant gender differences were found. Whereas anti-HCV positivity increased slightly with age, most HCV RNA patients were from the middle age group, i.e. between 36 and 45 years of age. The geographic distribution of HCV cases across Slovakia was relatively even. CONCLUSIONS: The prevalence of anti-HCV antibodies in subjects representing the general population of Slovakia older than 15 years was 1.52 %; chronic HCV infection was confirmed in 0.67 % of cases.

[Pulsed-field gel electrophoresis and its practical use]. / Pulzná elektroforéza a jej vyuzitie.

Pulsed-field gel electrophoresis was developed for separating and analyzing of long DNA fragments in alternating electric field. In homogenous electric field, fragments longer than 50 kb run as a broad, unresolved band with high mobility. PFGE separated the DNA by periodicaly changing the direction of electric field. DNA molecules are moving "zig-zag" through the gel and they can be better separated. Fragments of several megabases can be resolved using this method. PFGE can be used for genome mapping of microorganisms as well as higher organisms. In microbiology, PFGE is a standard method for typization of bacteria. Comparison of electrophoresis profiles after digestion od DNA from bacterial isolates with restriction endonuclease is a very useful epidemiologists tool. Genetically identical organisms have the same PFGE profiles, different strains have different profiles. Related strains have also similar electrophoretic profiles. This enables to determine if the outbreaks are caused by the same strain of microorganism, to locate the source of outbreak and to monitor the spread of the microorganism. The most followed-up are nosocomial and the food-borne pathogens. PFGE can be also used for monitoring genetic evolution of the microorganism and the most prevalent types which circulate in population. This can be very useful for preparation of vaccines.

Immunological markers in patients with different forms of viral hepatitis B treated by "conventional" therapy or with HuIFN alpha.

Selected immunological, biochemical, and other viral hepatitis B (VH-B) markers were followed and analysed during "conventional" or human interferon alpha (HuIFN alpha) therapy of patients with different forms of VH-B. The immunological data obtained from "conventionally"-treated acute hepatitis B (AH-B), prolonged acute hepatitis B (AH-BP) or chronic active hepatitis B (CAH-B) patients disclosed differences unsatisfactory for comparison of the influence of HuIFN alpha therapy on changes of the immunological markers. More valuable data were obtained through continuous registration of the dynamics of selected blood markers. Partial effects on immunological parameters were seen after HuIFN alpha administration to 2 patients with developing CAH-B infection. Progression of the disease was markedly halted in these both patients after IFN treatment.