ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability.

BACKGROUND: Estimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tested the use of a specific RD codification system (ORPHAcodes) in five European countries/regions (Czech Republic, Malta, Romania, Spain, Veneto region-Italy) across different data sources over the period January 2019-September 2021. RESULTS: Overall, 3133 ORPHAcodes were used to describe RD diagnoses, mainly corresponding to the disease/subtype of disease aggregation level of the Orphanet classification (82.2%). More than half of the ORPHAcodes (53.6%) described diseases having a very low prevalence (< 1 case per million), and most commonly captured rare developmental defects during embryogenesis (31.3%) and rare neurological diseases (17.6%). ORPHAcodes described disease entities more precisely than corresponding ICD-10 codes in 83.4% of cases. CONCLUSIONS: ORPHAcodes were found to be a versatile resource for the coding of RD, able to assure easiness of use and inter-country comparability across population and hospital databases. Future research on the impact of ORPHAcoding as to the impact of numbers of RD patients with improved coding in health information systems is needed to inform on the real magnitude of this public health issue.

20 Years of ICF-International Classification of Functioning, Disability and Health: Uses and Applications around the World.

The International Classification of Functioning Disability and Health (ICF) was approved in 2001 and, since then, several studies reported the increased interest about its use in different sectors. A recent overview that summarizes its applications is lacking. This study aims to provide an updated overview about 20 years of ICF application through an international online questionnaire, developed by the byline authors, and sent to each World Health Organization Collaborating Centers of the Family of International Classifications (WHO-FIC CCs). Data was collected during October 2020 and December 2021 and descriptive content analyses were used to report main results. Results show how, in most of the respondent countries represented by WHO-FIC CCs, ICF was mainly used in clinical practice, policy development and social policy, and in education areas. Despite its applications in different sectors, ICF use is not mandatory in most countries but, where used, it provides a biopsychosocial framework for policy development in health, functioning and disability. The study provides information about the needs related to ICF applications, that can be useful to organize targeted intervention plans. Furthermore, this survey methodology can be re-proposed periodically to monitor the use of the ICF in the future.

Predictors of Short- and Long-Term Mortality in Ischemic Stroke: A Community-Based Study in Brno, Czech Republic.

BACKGROUND AND OBJECTIVE: Short- and long-term mortality following ischemic stroke (IS) and their predictors have not been defined in the Czech population, and studies on long-term mortality are largely missing for the populations of Central Europe. METHODS: Using the National Register of Hospitalized Patients and the Czech National Mortality Registry, we analyzed data on 1-month, 1-year, and 3-year all-cause mortality for patients admitted with IS to any of the 4 hospitals with a certified stroke unit in Brno, Czech Republic, in 2011. We reviewed discharge summaries and recorded potential factors impacting mortality after the index stroke event. Using univariate and multivariable analyses, we identified predictors of mortality at all 3 time points. RESULTS: In our multivariable model, statin use (odds ratio [OR] 0.095, p < 0.0001), age at stroke (OR 1.03, p = 0.0445), and admission National Institutes of Health Stroke Scale (NIHSS) score (OR 1.16, p < 0.0001) predicted 1-month mortality, while statin use (OR 0.43, p = 0.0004), history of cardiac failure (OR 2.17, p = 0.0137), age at stroke (OR 1.07, p < 0.0001), and admission NIHSS score (OR 1.14, p < 0.0001) predicted 1-year mortality. Statin use (OR 0.54, p = 0.0051), history of cardiac failure (OR 2.13, p = 0.0206), age at stroke (OR 1.07, p < 0.0001), and admission NIHSS score (OR 1.11, p < 0.0001) also predicted 3-year mortality. CONCLUSIONS: Our study is the first to report data on short- and long-term mortality rates and their predictors in patients hospitalized with IS in the Czech population. Our results indicate that mortality rates and predictors of mortality are consistent with those reported in studies from other populations throughout the world.

Long-term trends in the incidence, treatment, hospital fatality and subsequent mortality from acute myocardial infarction in the Czech Republic.

AIMS: Studies on the incidence, acute and subsequent mortality from myocardial infarction are limited mostly to selected clinical cohorts and populations and cover relatively short periods. Our aim was to describe and analyse long-term trends on a national scale. METHODS: Acute myocardial infarction (AMI) was defined by the International Classification of Diseases (ICD)10; codes I21 and I22. Our natiowide 1994-2016 data on AMI mortality were obtained from the official mortality statistics (Czech Bureau of Statistics), data on morbidity (hospitalizations) from the National Register of Hospitalizations (Institute for Health Information and Statistics). For further analyses, data from the Czech EUROASPIRE I-V and Czech IMPACT studies were used. RESULTS: Over the 1994-2016 period the total number of AMI cases per year decreased from 34,084 to 19,015, that of patients hospitalized for AMI from 22,373 to 15,419, the total number of deaths due to AMI from 14,834 to 4,673, in those treated because of AMI from 3,794 to 1,137, and hospital fatality in patients treated for AMI decreased from 17% to 7.5%. Over the years 1997-2016, the one-year all-cause mortality rate after AMI declined from 25.1 to 17.9%, cardiovascular (CV) mortality from 22.3 to 14.2%, five-year all-cause mortality from 41.7 to 34%, and CV mortality from 34.1 to 23.6%. CONCLUSION: The Czech Republic has witnessed a pronounced decrease in AMI incidence and fatality and, consequently, long-term mortality. The decreasing incidence and improving course of AMI are due to progress in primary prevention, in acute coronary care and interventional cardiology, and in secondary coronary heart disease (CHD) prevention.

Incidence of Stroke and Ischemic Stroke Subtypes: A Community-Based Study in Brno, Czech Republic.

BACKGROUND: There are few contemporary epidemiological data on stroke for Central Europe. We performed a population-based study evaluating the incidence of stroke, stroke types, and ischemic stroke (IS) subtypes in Brno, the second biggest city in the Czech Republic (CR). METHODS: Using the National Registry of Hospitalized Patients, and hospital databases, we identified all patients hospitalized with a stroke diagnosis in Brno hospitals in 2011. For Brno residents with validated stroke diagnosis, we calculated (a) the overall incidence of hospitalized stroke, (b) incidence rates for IS, subarachnoid hemorrhage (SAH) and intracerebral hemorrhage (ICH), and (c) incidence rates for IS subtypes. We calculated the average annual age- and sex-standardized incidence (European Standard Population and World Health Organization), to compare our results with other studies. RESULTS: The overall crude incidence of stroke in Brno was 213/100,000 population. The incidence of stroke for stroke types were as follows: SAH, 6.9; ICH, 26.4; and IS, 180 cases per 100,000 population, respectively. The WHO-standardized annual stroke incidence was 107 for all strokes and 88 for IS, 14.4 for ICH, and 5 for SAH. For IS subtypes, the WHO-standardized incidence was large artery atherosclerosis 25.8, cardioembolism 27.8, lacunar 21.6, other determined etiology 6.2, and undetermined etiology 6.5 cases per 100,000 population. CONCLUSIONS: The stroke incidence is lower than that previously reported for the CR and Eastern Europe probably reflecting socioeconomic changes in post-communistic countries in the region. These findings could contribute to stroke prevention strategies and influence health policies.

Trends in One Month and One Year Hemorrhagic Stroke Case Fatality Rates in the Czech Republic between 1998 and 2015.

BACKGROUND: This retrospective cross-sectional study reports 1 month and 1 year intracerebral hemorrhage (ICH) and subarachnoid hemorrhage (SAH) case fatality rates and their temporal trends in the Czech Republic between 1998 and 2015. METHODS: Utilizing the National Register of Hospitalized Patients, we randomly selected 600 patients hospitalized for ICH and 600 patients hospitalized for SAH for each year from 1998 to 2015, and identified those who died, regardless of cause, using the Czech National Mortality Registry. We calculated crude and age-adjusted 1 month and 1 year case fatality rates for ICH and SAH. Long-term trends of the crude rates were analyzed using a one-sided Cochran Armitage test. RESULTS: A total of 21,600 cases hospitalized for SAH and ICH (10,800 for each) between 1998 and 2015 were randomly selected for analysis. One month case fatality of SAH overall and in women has decreased by 0.2% (P = .006) and 0.3% per year (P = .04), respectively. Overall 1 year case fatality of SAH has decreased by 0.2% per year (P = .03). One month case fatality rate of ICH overall and in men has decreased by 0.2% (p=0.01) and 0.4% (P = .0007), respectively. One year case fatality of ICH in men has decreased by 0.2% per year (P = .047). CONCLUSIONS: One month and 1 year case fatality rates for SAH and ICH have been decreasing in the Czech Republic between 1998 and 2015, and are similar or lower than those reported from other developed European countries.

Risk Factors in Ischemic Stroke Subtypes: A Community-Based Study in Brno, Czech Republic.

BACKGROUND: It is not known if risk factors differ between ischemic stroke (IS) subtypes in Central and Eastern Europe. AIMS: We performed a community-based analysis of risk factors in patients admitted with IS over a 1 year period in Brno, the second largest city in the Czech Republic (CR). METHODS: Based on the National Register of Hospitalized Patients, all patients with IS admitted in Brno in 2011 were identified. Comprehensive discharge summaries from hospital admissions were collected and reviewed. IS subtype and relevant risk factors were ascertained for all patients. The age- and sex-adjusted association of risk factors with IS subtypes was determined. RESULTS: Overall, 682 patients with IS were admitted in 2011 to Brno hospitals. The distribution of IS subtypes was: 35% cardioembolism, 28% large-artery atherosclerosis, 23% small-artery occlusion, 7% stroke of undetermined etiology, 7% stroke of other determined etiology. Several of the risk factors showed high prevalence in the overall sample - e.g. hypertension (84%) and hyperlipidemia (61%). Cardioembolism as compared to other subtypes was positively associated with a history of myocardial infarction, cardiac failure, and atrial fibrillation. Small-artery occlusion was positively associated with history of dementia. No significant association was found between IS subtypes and history of IS, hypertension, diabetes, obesity, alcohol abuse or smoking. CONCLUSIONS: We found high frequency of stroke risk factors in all IS subtypes. These findings have implications for stroke prevention strategies in the CR and across Central Europe.

Short-term prediction of coronary heart disease mortality in the Czech Republic based on data from 1968-2014.

OBJECTIVES: The aim was to explore the patterns of the coronary heart disease (CHD) mortality rates over the past almost 50 years (1968-2014) in the Czech Republic, and to predict the mortality rates in 2015-2019. METHODS: The number of deaths from CHD and the population size were stratified by sex and age. The mortality rates were age-standardized to European population. Their values in 2015-2019 were estimated using the joinpoint log-linear regression, local log-linear regression and negative binomial log-linear regression, separately for males and females. RESULTS: A positive change in the trend of the age-standardized mortality rates from CHD was detected after the collapse of communism in 1989. In 1991-2000, the mortality trend was sharply downward, with an annual percent change of -5.8 % for males and -5.2 % for females. In 2000-2014, the decreasing trend was not so sharp (-1.3 % for males and -0.7% for females), yet it should continue in 2015-2019. The crude mortality rates for females are slightly higher than those for males since 2007, however, they are increasing for both sexes. The mortality rates are rising mainly in the age group of 85+ years (in 2014, 25.4% of CHD deaths of males and 54.4% of females occurred at the age of 85+ years). CONCLUSIONS: The age-standardized mortality rates are predicted to decrease in 2015-2019, but the crude mortality rates should increase due to increase in average life expectancy. The burden of deaths is moving to the age group of 85 years and older, mainly in females. A total of 26,039 CHD deaths were registered in the Czech Republic in 2014, and 29,653 are predicted for 2019, if the current trends continue.

Comparison of Alcohol Consumption and Alcohol Policies in the Czech Republic and Norway.

OBJECTIVE: The Czech Republic is characterized by high alcohol consumption and is well known as the world's biggest consumer of beer. In contrast, the alcohol consumption in Norway is relatively low. In this article, we describe and discuss alcohol policy development in the Czech Republic since the mid-1980s to the present and its impact on the alcohol consumption and compare our findings, including the dynamics of the total alcohol consumption and the development of drinking patterns among young people, with the situation in Norway. METHODS: The study uses the methodology of "process tracing". Selected national statistics, research outcomes and related policy documents were analyzed to identify possible relations between the alcohol consumption and the alcohol policy in two different environments and institutional/policy settings. RESULTS: There was a clear difference in alcohol consumption trends in both countries in the last three decades. Norway was characterized by low alcohol consumption with tendency to decline in the last years. In contrast, the Czech Republic showed an upward trend. In addition, alcohol consumption among Czech youth has been continuously increasing since 1995, whereas the opposite trend has occurred in Norway since the late 1990s. The results revealed that the alcohol-control policies of the Czech Republic and Norway were significantly different during the study period. Norway had a very restrictive alcohol policy, in contrast to the liberal alcohol policy adopted in the Czech Republic, in particular after political transition in 1990. Liberalization of social life together with considerable decline of alcohol price due to complete privatization of alcohol production and sale contributed to an increase of the alcohol consumption in the Czech Republic. CONCLUSIONS: Persistently high alcohol consumption among general population and its growth among young people in the Czech Republic pose social, economic and health threats. Norway could provide the inspiration to Czech politicians about effective options in combating these threats.

Treatment of Tobacco Dependence, a Critical Gap in Czech Clinical Practice Guidelines.

OBJECTIVE: Tobacco related comorbidities and treatment of dependence are relevant to clinicians of all disciplines. Clinicians should provide a brief intervention about tobacco use with smokers at each clinical contact (success rate of 5-10 %). Intensive treatment (success rate >30%) should be available to those who need it. Brief intervention is not yet standard clinical practice. Our aim was to assess clinical practice guidelines (CPG) of selected medical professional societies to determine whether or not tobacco dependence treatment recommendations were included. METHODS: Between October and December 2013, we conducted a keyword search of CPG for 20 medical professional societies in the Czech Republic. We searched for the keywords "smoking", "tobacco" and "nicotine addiction" in 91 CPG documents, which were freely available on the websites of selected professional societies. We focused specifically on CPG relating to cardiovascular and respiratory diseases as well as cancer. We excluded any CPG focused on acute conditions, diagnostics only, laboratory methods, or administration. RESULTS: There was no mention of smoking in 27.7% (26/94) of CPG documents. Only 16% (15/94) of CPG documents listed smoking as a risk factor. 42.5% (40/94) mentioned smoking related phrases (e.g. "smoking ban"). Only 13.8% (13/94) of CPG included a section on tobacco dependence, referenced tobacco dependence treatment guidelines or mentioned specialized treatment centres where smokers can be referred. CONCLUSION: Nearly one third of CPG related to cardiovascular and respiratory diseases as well as cancer made no mention of smoking. Despite the clinical significance of smoking, the majority of CPG did not adequately address tobacco dependence and its treatment.

Incidence of Hospitalized Stroke in the Czech Republic: The National Registry of Hospitalized Patients.

BACKGROUND: Contemporary stroke incidence data are not available in some countries and regions, including in Eastern Europe. Based on previous validation of the accuracy of the National Registry of Hospitalized Patients (NRHOSP), we report the incidence of hospitalized stroke in the Czech Republic (CR) using the NRHOSP. METHODS: The results of the prior validation study assessing the accuracy of coding of stroke diagnoses in the NRHOSP were applied, and we calculated (1) the overall incidence of hospitalized stroke and (2) the incidence rates of hospitalized stroke for the three main stroke types: cerebral infarction (International Classification of Diseases Tenth Revision, CI I63), subarachnoid hemorrhage (SAH I60), and intracerebral hemorrhage (ICH I61). We calculated the average annual age- and sex-standardized incidence. RESULTS: The overall incidence of hospitalized stroke was 241 out of 100,000 individuals. The incidence of hospitalized stroke for the main stroke types was 8.2 cases in SAH, 29.5 in ICH, and 211 in CI per 100,000 individuals. The standardized annual stroke incidence adjusted to the 2000 World Health Organization population for overall stroke incidence of hospitalized stroke was 131 per 100,000 individuals. Standardized stroke incidence for stroke subtypes was 5.7 cases in SAH, 16.7 in ICH, and 113 in CI per 100,000 individuals. CONCLUSIONS: These studies provide an initial assessment of the burden of stroke in this part of the world. The estimates of hospitalized stroke in the CR and Eastern Europe suggest that ICH is about three times more common than SAH, and hemorrhagic stroke makes up about 18% of strokes.

The High Frequency of Guideline-Approved and Guideline-Disapproved Medication Use in Stroke and Transient Ischemic Attack.

BACKGROUND AND PURPOSE: Administration of evidence-based pharmacotherapy improves stroke outcome while the use of non-evidence-based medications may not be of benefit and leads to unnecessary patient care costs. The aim of our study was to determine the frequency of guideline-approved and guideline-disapproved pharmacotherapy use in acute stroke management in the Czech Republic (CR). METHODS: Using the ICD-10 codes, 500 stroke and transient ischemic attack (TIA) patients were randomly selected (random selection of 10 hospitals and then 50 patients from each hospital) from the National Registry of Hospitalized Patients for strokes occurring in 2011. Discharge summaries were reviewed for medications prescribed during hospitalization and at discharge. RESULTS: Of the 500 requested discharge summaries, 484 were available for review (response rate 97%). Up to 479 (96%) summaries were sufficient for evaluation and of these, 393 were confirmed to have a stroke or TIA diagnosis. Brain imaging (computed tomography or magnetic resonance imaging) was performed in 97% of the 393 cases. Intravenous thrombolysis was administered to 7% of patients with ischemic stroke (rate was 0%-25% in different hospitals). Up to 97% of patients with ischemic events (TIA or ischemic stroke) were treated with antiplatelets or anticoagulants. At least 1 non-evidence-based medication was administered to 28% of the 393 patients (rate was 5%-89% in different hospitals). CONCLUSIONS: Guideline-disapproved pharmacotherapy is common in stroke and TIA patients in the CR and processes should be put into place to lessen the frequency of their use. The use of guideline-approved medications is also high and should be further promoted.

Disparities in melanoma incidence and mortality in South-Eastern Europe: Increasing incidence and divergent mortality patterns. Is progress around the corner?

INTRODUCTION: Most countries in South-Eastern Europe (SEE) have lower incidence, but higher mortality rates of malignant melanoma (MM) of the skin compared to North-Western Europe (NWE). We explored trends in MM incidence and mortality in SEE countries by sex and age and compared them with the trends in NWE. METHODS: We obtained data on incident cases and deaths from MM (ICD-10 code C43) from 11 population-based cancer registries in Bosnia and Herzegovina, Bulgaria, Croatia, Cyprus, Czech Republic, Malta, Romania, Serbia, Slovakia, Slovenia and Turkey. We calculated age-specific rates for 25-49 ('young'), 50-69 ('middle aged') and 70+ years ('older') and estimated the average annual percent of change in incidence and mortality trends 2000-2010 according to age group and sex, using joinpoint regression analysis. FINDINGS: The incidence rates of MM across the region were uniformly increasing. Significant increases in mortality rates were observed in middle aged men in Serbia and Bulgaria, middle aged women in Slovenia, older men in the Czech Republic, Serbia and Turkey, and older women in Slovenia and Serbia. INTERPRETATION: While MM incidence rates were still increasing across SEE, mortality trends diverged and were less favourable than in NWE. Empowering cancer registration and improving the quality of incidence and mortality data will be essential for monitoring progress in MM control. In the context of prevention of melanoma, disparities in early detection appear to be widening the gap between SEE and NWE, while the provision of care to patients with advanced disease is likely to prove a challenge for regional healthcare budgets.

Validation of Stroke Diagnosis in the National Registry of Hospitalized Patients in the Czech Republic.

BACKGROUND: Stroke is a common cause of mortality and morbidity in Eastern Europe. However, detailed epidemiological data are not available. The National Registry of Hospitalized Patients (NRHOSP) is a nationwide registry of prospectively collected data regarding each hospitalization in the Czech Republic since 1998. As a first step in the evaluation of stroke epidemiology in the Czech Republic, we validated stroke cases in NRHOSP. METHODS: Any hospital in the Czech Republic with a sufficient number of cases was included. We randomly selected 10 of all 72 hospitals and then 50 patients from each hospital in 2011 stratified according to stroke diagnosis (International Classification of Diseases Tenth Revision [ICD-10] cerebrovascular codes I60, I61, I63, I64, and G45). Discharge summaries from hospitalization were reviewed independently by 2 reviewers and compared with NRHOSP for accuracy of discharge diagnosis. Any disagreements were adjudicated by a third reviewer. RESULTS: Of 500 requested discharge summaries, 484 (97%) were available. Validators confirmed diagnosis in NRHOSP as follows: transient ischemic attack (TIA) or any stroke type in 82% (95% confidence interval [CI], 79-86), any stroke type in 85% (95% CI, 81-88), I63/cerebral infarction in 82% (95% CI, 74-89), I60/subarachnoid hemorrhage in 91% (95% CI, 85-97), I61/intracerebral hemorrhage in 91% (95% CI, 85-96), and G45/TIA in 49% (95% CI, 39-58). The most important reason for disagreement was use of I64/stroke, not specified for patients with I63. CONCLUSIONS: The accuracy of coding of the stroke ICD-10 codes for subarachnoid hemorrhage (I60) and intracerebral hemorrhage (I61) included in a Czech Republic national registry was high. The accuracy of coding for I63/cerebral infarction was somewhat lower than for ICH and SAH.

[Tobacco dependence treatment guidelines]. / Doporucení pro lécbu závislosti na tabáku.

Tobacco dependence causes every sixth death in the Czech Republic and is associated with diseases of the whole body. Treatment of tobacco dependence should be a standard part of clinical care to the extent of time available--from brief intervention at each clinical contact with patients up to intensive treatment. It includes psycho-socio-behavioural support and pharmacotherapy. It should apply to all professions in clinical medicine--as recommended by WHO mainly doctors, nurses, pharmacists and dentists, and should be covered within health care systems. Economically, it is one of the most cost-effective interventions in medicine. In our population over 15 years about 30% smokes (about 2.2 million people), diagnosis F17 relates to approximately 1.75 million people (about 80% of smokers).

[The use of diagnoses related to tobacco use in the Czech Republic]. / Vyuzívání diagnóz souvisejících s uzíváním tabáku v Ceské republice.

BACKGROUND: According to the International Statistical Classification of Diseases and Related Health Problems 10th Revision, tobacco dependence is coded by group F17 - Mental and behavioral disorders due to use of tobacco. There are other codes for diagnoses and conditions associated with tobacco use. The aim of our analysis was to determine how often these codes are reported in clinical practice. METHODS AND RESULTS: We observed the incidence of diagnoses F17, P04.2, Z72.0 or T65.2 in years 2002-2011 in hospitalized patients and the F17 diagnosis in patients of psychiatric health facilities. According to data from the Institute of Health Information and Statistics of the Czech Republic diagnoses indicating smoking patients were reported in 1.5% of hospitalized patients in 2011, although the prevalence of smoking in the population is around 30% in last 15 years. Smoking-related diagnoses were reported in 2.1% of cases in Internal medicine departments. Codes F17, T65.2 and Z72.0 occurred as an accessory diagnose in vascular brain disease in 1.8% of hospitalizations and for respiratory tract neoplasms (dg. C32-C34) it was 7.1% of hospitalizations. CONCLUSIONS: These results demonstrate the underestimation of the importance of smoking and its relationship to clinical disciplines. Although it is one of the most common diseases in the population with a direct relation to fatal diseases of civilization, the information on its incidence is not used in clinical practice.

Formalization of clinical practice guidelines.

Clinical practice guidelines are textual recommendations based on the consensus of medical experts with the aim to solve diagnostic and therapeutic problems. For more advanced use in real medical applications it is necessary to find out mathematical models of physicians' decision-making processes. The acquisition of a formal model from text-based guidelines is a crucial point for development of decision support systems. We introduce a system for formalization and presentation of medical knowledge contained in clinical practice guidelines where knowledge formalization is based on the GLIF model.

Medical knowledge representation system.

The aim of this article is to present a design of a Medical Knowledge Representation System (MEKRES). The system automatically offers relevant formalized knowledge by extended GLIF (Guidelines Interchange Format) models to participants (patient, physician, operator, ..) on the basis of acquired data. This selection algorithm is based on key attributes and cooperation with knowledge ontologies.