Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

Background And Aim: Gene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis.

Patients And Methods: Both paediatric (n = 33) and adult (n = 18) patients with cholestatic liver disease of unknown aetiology were eligible.

Nonalcoholic Fatty Liver Disease-Related Hepatocellular Carcinoma: Clinical Patterns, Outcomes, and Prognostic Factors for Overall Survival-A Retrospective Analysis of a Slovak Cohort.

Objective: To compare NAFLD-related HCC and other etiology-related HCC and to describe predictive factors for survival in patients with NAFLD-related HCC independent of the BCLC staging system.

Methods: We performed a multicenter longitudinal retrospective observational study of patients diagnosed with HCC during the period from 2010 through 2016.

Results: 12.

Incidence and prevalence of neuromyelitis optica spectrum disorders in Slovakia.

Objective: : Neuromyelitis optica spectrum disorders (NMOSDs) are a group of rare, inflammatory, demyelinating diseases that affect the central nervous system. Neither the incidence nor the prevalence of NMOSD has been determined in Slovakia thus far. The aim of this study was to determine both the incidence and the prevalence of NMOSD in Slovakia using the 2015 International Panel of NMOSD diagnosis (IPND) criteria.

Prognostic Factors in Primary Biliary Cholangitis: A Retrospective Study of Joint Slovak and Croatian Cohort of 249 Patients.

Objective: To identify pretreatment laboratory parameters associated with treatment response and to describe the relationship between treatment response and liver decompensation in patients with primary biliary cholangitis treated with ursodeoxycholic acid.

Methods: We defined treatment response as both ALP ≤ 1.67 × ULN and total bilirubin ≤ 2 × ULN.

Chronic hepatitis C virus infection in the Czech Republic and Slovakia: an analysis of patient and virus characteristics.

Objectives: The MOSAIC study gathered data on chronic hepatitis C virus (HCV) infection and its treatment in various countries worldwide. Here we summarise patient and HCV characteristics in the Czech Republic and Slovakia.

Methods: MOSAIC was an observational study that included patients with chronic HCV infection untreated at the time of enrolment.

Epidemiology and clinical course of primary biliary cholangitis in Eastern Slovakia.

Objective: To determine both the incidence and the prevalence of primary biliary cholangitis (PBC) in Eastern Slovakia and to describe its clinical course and the response to ursodeoxycholic acid (UDCA).

Methods: We recorded data of patients with PBC, who were followed up in gastroenterology and hepatology centers in Eastern Slovakia during the period from June 30, 1999, through June 30, 2019.

Results: The annual incidence of PBC varied from 0.

What is the Role of the Horizontal Transmission of Hepatitis B Virus Infection in Young Adult and Middle-Aged Roma Population Living in the Settlements in East Slovakia?

: The aim of our work is to objectify the manner of transmission of HBV infection in young adult and middle-aged Roma people who live in the settlements. : We used data from the cross-sectional study HepaMeta. We analyzed Roma people living in the settlements in East Slovakia, who have had HBsAg and anti HBc IgG antibodies examined.

The Roma Population Living in Segregated Settlements in Eastern Slovakia Has a Higher Prevalence of Metabolic Syndrome, Kidney Disease, Viral Hepatitis B and E, and Some Parasitic Diseases Compared to the Majority Population.

: The Roma population is one of the largest marginalized population groups in Europe. The aim of our work was to summarize the morbidity of lifestyle-related diseases and infectious diseases in the Roma population living in segregated settlements. : We used data from the cross-sectional study HepaMeta, in which we examined 452 Roma subjects with an average age of 34.

New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson's disease.

Background: Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the ceruloplasmin gene, which is clinically manifested by damage to the nervous system and retinal degeneration. This classical clinical picture can be preceded by diabetes mellitus and microcytic anaemia, which are considered to be early manifestations of aceruloplasminaemia.

Case Presentation: In our report, we describe the case of a patient with aceruloplasminaemia detected in an early stage (without clinical symptoms of damage to the nervous system) during the search for the cause of hepatopathy with very low values of serum ceruloplasmin.

The value of human epididymis protein 4 (HE4) as a serum tumor marker for accurate bone metastases finding by whole-body bone scintigraphy in lung cancer patients.

The aim of our study was to correlate the serum concentration of human epididymis protein 4 (HE4) in lung cancer patients with the bone metastases detected by whole-body bone scintigraphy. The serum concentrations of HE4 were determined by electrochemiluminescence immunoassay method in 60 patients with lung cancer and in 10 persons without malignant disease (control group). All participants were examined by whole-body bone scintigraphy with hybrid gamma camera of type BrightView XCT.

Glucose Metabolism Changes in Patients with Chronic Hepatitis C Treated with Direct Acting Antivirals.

Background And Aims: Chronic hepatitis C is a systemic disease and type 2 diabetes mellitus (T2DM) belongs to more common extrahepatic. The aim of this study was to (i) explore the prevalence of impaired fasting glucose (IFG) and T2DM in patients with chronic hepatitis C, (ii) explore the effect of direct acting antivirals (DAA) treatment on the glycemia, and (iii) explore the factors that modulate the effect of DAA treatment on glycemia in patients with chronic hepatitis C.

Methods: We performed a longitudinal retrospective observational study focused on the patients undergoing DAA treatment of chronic hepatitis C.

Chronic Hepatitis C Association with Diabetes Mellitus and Cardiovascular Risk in the Era of DAA Therapy.

Patients with chronic hepatitis C have both higher prevalence of diabetes mellitus type 2 (T2DM) and increased cardiovascular risk compared to never infected people. Sustained viral response (SVR) achievement led to decreasing incidence and prevalence of T2DM during the interferon era of HCV treatment. Currently, direct-acting antiviral drugs (DAA) are the gold standard for treating HCV infection, while yielding SVR in nearly all patients.

Prevalence and Risk Factors for Hepatitis B Virus Infection in Roma and Non-Roma People in Slovakia.

Unlabelled: Prevalence of Hepatitis B is relatively low in developed European countries. However specific subpopulations may exist within each country with markedly different Hepatitis B burden. Roma minority is very numerous in Slovakia and their lifestyle is completely different to non-Roma population.

Seroprevalence of Hepatitis E Virus in Roma Settlements: A Comparison with the General Population in Slovakia.

Hepatitis E infection is one of the most frequent causes of acute hepatitis in the world. Currently five human genotypes with different geographical distributions and distinct epidemiologic patterns are identified. In Slovakia, only rare cases of hepatitis E have been reported in past years.

The Impact of Selected Groups of Non-communicable Disease Deaths on Life Expectancy in the Slovak Republic.

Aim: The aim of this study was to compute the potential gains in life expectancy (PGLEs) if the five main groups of non-communicable disease deaths were eliminated in the Slovak population during 1996-2014, and to decompose PGLEs by five-year age groups.

Methods: PGLEs were computed from mortality reports for deaths from ischaemic heart disease (I20-25), cerebrovascular diseases (I60-I69), cancer (C00-C97), diabetes mellitus (E10-E14), and chronic respiratory diseases (J30-J98) using the life table decomposition technique.

Results: In 2014, life expectancy at birth was 76.

A Community-Based Study to Estimate the Seroprevalence of Trichinellosis and Echinococcosis in the Roma and Non-Roma Population of Slovakia.

Trichinellosis and cystic and alveolar echinococcosis are serious parasitic diseases transmissible between animals and humans. Moreover, alveolar echinococcosis is considered one of the most dangerous of human helminthoses. Roma communities are particularly numerous in Central and Eastern Europe.

Bone Metabolism of the Patient with a Malignant Melanoma during the Entry Examination and the Check-up of Whole-body Bone Scintigraphy.

Malignant melanoma is a malignancy located predominantly in the skin and the incidence of melanoma increases. We compared the markers of bone metabolism - osteocalcin (OC), beta-carboxyterminal cross-linked telopeptide of type I collagen (β-CrossLaps, β-CTx) and tumour marker - human epididymis protein 4 (HE4) in the serum with finding during the entry examination and the check-up of whole-body bone scintigraphy of the patient with a malignant melanoma. Serum concentrations of OC, β-CTx, HE4 were determined in 1 patient (female, age 64 years) with malignant melanoma and correlated with the presence of equivocal bone metastases detected by whole-body bone scintigraphy (the entry examination and check-up after 6 months).

Evaluation of hepatic fibrosis - access to non-invasive methods, national practice/guidelines in Central Europe.

Noninvasive methods have improved diagnostic tools of liver fibrosis. Although liver biopsy is the gold standard for diagnosis of hepatis fibrosis, the noninvasive tests are usually much less expensive than liver biopsy, better tolerated, and can be repeated without any risk for the patient. Two groups of these noninvasive tests are included in clinical practice: serum biomarkers and elastography.