INTRODUCTION: The prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD) may be as high as 38% in the adult population with potential serious complications, multiple comorbidities and a high socioeconomic burden. However, there is a general lack of awareness and knowledge about MASLD and its progressive stages (metabolic dysfunction-associated steatohepatitis (MASH) and fibrosis). Therefore, MASLD is still far underdiagnosed. The 'Global Research Initiative for Patient Screening on MASH' (GRIPonMASH) consortium focuses on this unmet public health need. GRIPonMASH will help (primary) healthcare providers to implement a patient care pathway, as recommended by multiple scientific societies, to identify patients at risk of severe MASLD and to raise awareness. Furthermore, GRIPonMASH will contribute to a better understanding of the pathophysiology of MASLD and improved identification of diagnostic and prognostic markers to detect individuals at risk. METHODS: This is a prospective multicentre observational study in which 10 000 high-risk patients (type 2 diabetes mellitus, obesity, metabolic syndrome or hypertension) will be screened in 10 European countries using at least two non-invasive tests (Fibrosis-4 index and FibroScan). Blood samples and liver biopsy material will be collected and biobanked, and multiomics analyses will be conducted. ETHICS AND DISSEMINATION: The study will be conducted in compliance with this protocol and applicable national and international regulatory requirements. The study initiation package is submitted at the local level. The study protocol has been approved by local medical ethical committees in all 10 participating countries. Results will be made public and published in scientific, peer-reviewed, international journals and at international conferences. REGISTRATION DETAILS: NCT05651724, registration date: 15 Dec 2022.

• MeSH
• diabetes mellitus 2. typu komplikace   MeSH
• jaterní cirhóza diagnóza   MeSH
• lidé MeSH
• metabolický syndrom komplikace   MeSH
• multicentrické studie jako téma MeSH
• nealkoholová steatóza jater * diagnóza   MeSH
• plošný screening * metody   MeSH
• prospektivní studie MeSH
• výzkumný projekt MeSH
• ztučnělá játra * diagnóza   epidemiologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• protokol klinické studie MeSH

Vyšetření očního pozadí je úhelným kamenem screeningu diabetické retinopatie a základní podmínkou intenzivní léčby a prevence progrese. Doporučení vyšetřit každého pacienta s diabetem jednou ročně není v České republice naplňováno. Novou cestou, která umožní zlepšit situaci, je hrazení vyšetření nonmydriatickoou funduskamerou v ordinaci specialisty a vyhodnocení nálezu pomocí programů umělé inteligence. Jsou vyvíjeny prostředky k realizaci metod „teieoftaimoiogie" v reálné praxi, z nichž je nejblíže běžnému použití metoda sebevyšetření očního pozadí pomocí „chytrého" telefonu.

Fundus examination is the cornerstone of diabetic retinopathy screening and a basic condition for intensive treatment and prevention of progression. The recommendation to examine every patient with diabetes once a year is not being met in the Czech Republic. A new way to improve the situation is to cover non-mydriatic fundus examination in a specialist’s office and evaluate the findings using artificial intelligence programs. Means are being developed to implement "teieophthaimoiogy" methods in real practice, of which the method of seif-examination of the fundus using a "smart" phone is closest to common use.

• MeSH
• diabetes mellitus diagnóza   prevence a kontrola   MeSH
• diabetická retinopatie * prevence a kontrola   MeSH
• komplikace diabetu diagnóza   prevence a kontrola   MeSH
• lidé MeSH
• plošný screening klasifikace   metody   MeSH
• telemedicína přístrojové vybavení   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH
• Geografické názvy
• Česká republika MeSH

Early detection of type 1 diabetes, in its presymptomatic stage, offers significant clinical advantages, including treatment that can delay disease onset. Current screening focuses on identifying islet autoantibody positivity, with proposed optimal testing at ages 2, 6 and 10 years potentially achieving up to 80% sensitivity. However, challenges arise from participation rates and costs associated with multiple screenings. Genetic pre-screening has been suggested as a complementary strategy to target high-risk individuals prior to autoantibody testing, but its real-world benefits remain uncertain. Broad genetic selection strategies, based on family history, HLA typing or polygenic risk scores, can identify subsets of the population at elevated risk. However, these approaches face issues like low recall rates, socioeconomic biases and limited applicability across diverse ancestries. Additionally, the cost-effectiveness and infrastructure requirements of integrating genetic testing into routine healthcare remain significant hurdles. The combined use of genetic and autoantibody testing could improve predictive value, especially with innovations like point-of-care genetic testing. Yet, the ultimate success of any screening programme depends less on specific strategies and more on maximising public and healthcare-provider engagement, ensuring high participation, and addressing socioeconomic and demographic disparities. Digital-health infrastructure may play a crucial role in improving recall rates and maintaining follow-up adherence. In conclusion, while repeated islet autoantibody screening remains the most effective standalone approach, conducting genetic screening prior to islet autoantibody testing may be practical in certain contexts, provided that sufficient resources and equitable strategies are employed. Public engagement and robust infrastructure are essential to realising the full potential of early type 1 diabetes detection programmes.

• MeSH
• autoprotilátky * imunologie   MeSH
• diabetes mellitus 1. typu * diagnóza   genetika   imunologie   MeSH
• genetické testování * metody   MeSH
• Langerhansovy ostrůvky * imunologie   MeSH
• lidé MeSH
• plošný screening metody   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Malabsorption is a complex and multifaceted condition characterised by the defective passage of nutrients into the blood and lymphatic streams. Several congenital or acquired disorders may cause either selective or global malabsorption in both children and adults, such as cystic fibrosis, exocrine pancreatic insufficiency (EPI), coeliac disease (CD) and other enteropathies, lactase deficiency, small intestinal bacterial overgrowth (SIBO), autoimmune atrophic gastritis, Crohn's disease, and gastric or small bowel resections. Early recognition of malabsorption is key for tailoring a proper diagnostic work-up for identifying the cause of malabsorption. Patient's medical and pharmacological history are essential for identifying risk factors. Several examinations like endoscopy with small intestinal biopsies, non-invasive functional tests, and radiologic imaging are useful in diagnosing malabsorption. Due to its high prevalence, CD should always be looked for in case of malabsorption with no other obvious explanations and in high-risk individuals. Nutritional support is key in management of patients with malabsorption; different options are available, including oral supplements, enteral or parenteral nutrition. In patients with short bowel syndrome, teduglutide proved effective in reducing the need for parenteral nutrition, thus improving the quality of life of these patients. Primary care physicians have a central role in early detection of malabsorption and should be involved into multidisciplinary teams for improving the overall management of these patients. In this European consensus, involving 10 scientific societies and several experts, we have dissected all the issues around malabsorption, including the definitions and diagnostic testing (Part 1), high-risk categories and special populations, nutritional assessment and management, and primary care perspective (Part 2).

• MeSH
• celiakie diagnóza   terapie   MeSH
• dítě MeSH
• exokrinní pankreatická insuficience komplikace   diagnóza   terapie   MeSH
• gastroenterologie * normy   MeSH
• konsensus MeSH
• lidé MeSH
• malabsorpční syndromy * diagnóza   terapie   etiologie   epidemiologie   MeSH
• nutriční podpora * metody   normy   MeSH
• plošný screening * metody   normy   MeSH
• primární zdravotní péče normy   MeSH
• směrnice pro lékařskou praxi jako téma MeSH
• společnosti lékařské MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• konsensus - konference MeSH
• Geografické názvy
• Evropa MeSH

INTRODUCTION: The identification of type 1 diabetes at an early presymptomatic stage has clinical benefits. These include a reduced risk of diabetic ketoacidosis (DKA) at the clinical manifestation of the disease and a significant reduction in clinical symptoms. The European action for the Diagnosis of Early Non-clinical Type 1 diabetes For disease Interception (EDENT1FI) represents a pioneering effort to advance early detection of type 1 diabetes through public health screening. With the EDENT1FI Master Protocol, the project aims to harmonise and standardise screening for early-stage type 1 diabetes and care. METHODS AND ANALYSIS: Public health islet autoantibody screening is conducted in the Czech Republic, Denmark, Germany, Italy, Poland, Portugal, Sweden and the UK. Between November 2023 (start date) and October 2028 (planned end date), an estimated number of 200 000 children and adolescents aged 1-17 years are expected to be screened. Screening is performed in capillary blood, examining different islet autoantibodies (autoantibodies against insulin, glutamic acid decarboxylase-65, insulinoma-associated antigen-2 and/or zinc transporter-8). Positive screening results undergo confirmation through a second antibody method. A second (venous) blood sample is requested if at least two autoantibodies are detected, to confirm the autoantibody status. Children and adolescents with confirmed two or more autoantibodies are invited to metabolic staging (oral glucose tolerance test, haemoglobin A1c (HbA1c), random glucose, optionally continuous glucose monitoring); an educational programme and recommendations for monitoring are provided. The feasibility and acceptability of screening are evaluated by feedback questionnaires. Pseudonymised data is collated in the EDENT1FI Registry. Study outcomes include country-specific screening rates, prevalences of stage 1 and stage 2 type 1 diabetes, number in EDENT1FI Registry, proportion with DKA and symptoms at clinical diagnosis and median HbA1c. ETHICS AND DISSEMINATION: Following the EDENT1FI Master Protocol, site-specific protocols are developed and approved by local ethics committees (Technical University of Munich, Medical Faculty, Nr. 70/14; Medizinische Hochschule Hannover, Nr. 9588_BO_S_2021; Technische Universität Dresden, Nr. BO-EK-356082020; Center for Sundhed Region Hovedstaden, Nr. H-22053116; Swedish Ethical Review Authority, Nr. 2023-00312-01; National Health Service Health Research Authority and Health Care Research Wales, IRAS (Integrated Research Application System) project ID 309252; Italian National Institute of Health, National ethics committee for clinical trials of public research bodies (EPR) and other national public institutions, Prot. PRE BIO CE Nr. 0059835; Charles University in Prague, Ethics Committee for Multi-Centric Clinical Trials of the University Hopital Motol and 2nd Faculty of Medicine, Nr. 1271/23; Bioethics Committee at the Medical University of Warsaw, Nr. 21/2024 and KB/6/R/2024; Associação Protectora dos Diabéticos de Portugal, Nr. 211/2024). Results are disseminated through peer-reviewed journals and conference presentations and will be shared openly.

• MeSH
• autoprotilátky * krev   MeSH
• časná diagnóza * MeSH
• diabetes mellitus 1. typu * diagnóza   MeSH
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• plošný screening * metody   MeSH
• předškolní dítě MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH

• MeSH
• diabetes mellitus 2. typu * diagnóza   MeSH
• lékárny MeSH
• lidé MeSH
• plošný screening metody   MeSH
• Check Tag
• lidé MeSH

• MeSH
• audiometrie metody   MeSH
• lidé MeSH
• otitis media diagnóza   komplikace   terapie   MeSH
• plošný screening metody   MeSH
• poruchy sluchu * diagnóza   etiologie   prevence a kontrola   terapie   MeSH
• sluch MeSH
• sluchové pomůcky MeSH
• sluchové testy metody   MeSH
• Check Tag
• lidé MeSH

Národní program screeningu kolorektálního karcinomu (KRK) probíhá v České republice od roku 2000 a je příkladem mezioborové spolupráce. Podílí se na něm specialisté z oboru gastroenterologie, praktického lékařství, gynekologie a klinické biochemie. Program je založen na dvou základních metodách – screeningovém imunochemickém testu na okultní krvácení do stolice (iTOKS, FIT) a preventivní koloskopii (TOKS-pozitivní a screeningová koloskopie). O jeho efektivitě vypovídají vysoké počty zachycených kolorektálních prekancerózních a maligních lézí. V letech 2006–2023 bylo v rámci programu provedeno 531 362 preventivních koloskopií, diagnostikováno 202 575 pacientů s adenomy (38,1 %) a 14 473 s karcinomy (2,7 %). Kvalita programu je monitorována na základě indikátorů kvality, které jsou zaměřeny na organizaci (pokrytí cílové populace) i jednotlivé metody. Pokrytí screeningovými testy ve standardním dvouletém sledování se dlouhodobě pohybuje okolo 30 %, v roce 2023 činilo 30,0 % (s výjimkou let 2020 a 2021, kdy došlo k přechodnému poklesu pokrytí na 27 % z důvodu pandemie onemocnění covidem-19). Epidemiologické ukazatele ovlivňují i nescreeningové testy, pokrytí všemi relevantními metodami ve dvouletém intervalu činilo 37,5 % v roce 2023. Koloskopie je hodnocena šesti parametry (počet vyšetření, střevní očista, totální koloskopie, záchyt adenomů celkově, u žen a u mužů). Všechny tyto indikátory splňovalo v roce 2023 celkem 72 % center pro screeningovou koloskopii. Přístroje analyzující TOKS musejí nově procházet pravidelným externím hodnocením kvality (EHK). To by mělo vést také k optimalizaci pozitivity testů, která v roce 2023 dosahovala hodnoty 9,1 %. I díky programu screeningu KRK lze pozorovat příznivé epidemiologické trendy KRK, kdy v letech 2000–2022 došlo k poklesu incidence o 32,3 % a mortality o 47,8 %. Budoucnost programu spočívá v jeho dalším zefektivňování. Cílem je navýšení pokrytí cílové populace při udržení a dalším zvyšování kvality tak, aby byl program realizovatelný a průchodný.

The National Colorectal Cancer Screening Program has been conducted in the Czech Republic since 2000 and serves as an example of interdisciplinary collaboration. Specialists from gastroenterology, general practice, gynecology, and clinical biochemistry are involved in the program. It is based on two primary methods: the screening fecal immunochemical test for occult bleeding (iFOBT, FIT) and preventive colonoscopy (FOBT-positive colonoscopy and screening colonoscopy). The program‘s effectiveness is evidenced by the high number of detected colorectal precancerous and malignant lesions. Between 2006 and 2023, a total of 531,362 preventive colonoscopies were performed, diagnosing 202,575 patients with adenomas (38.1%) and 14,473 patients with cancers (2.7%). Program quality is monitored by indicators focused on both organization (target population coverage) and screening methods. Coverage with screening tests in a 2-year interval has consistently ranged around 30%, except between 2020 and 2021 during the COVID-19 pandemic (27%), reaching 30.0% in 2023. Non-screening tests also affect epidemiological indicators, with total coverage by all relevant methods in a 2-year interval in 2023 amounting to 37.5%. Colonoscopies are evaluated using six parameters (number of examinations, bowel preparation quality, total colonoscopies, and adenoma detection rate in total, in both women and men). In 2023, 72% of screening colonoscopy centers met all of these indicators. FOBT analyzers now must have the regular external quality assessment (EQA), which should help stabilize test positivity, standing at 9.1% in 2023. Thanks to the National Colorectal Cancer Screening Program, favorable epidemiological trends have been observed, with a 32.3% decrease in incidence and a 47.8% decrease in mortality between 2000 and 2022. The future of the program lies in its further optimization, with a goal of both increasing coverage of the target population by examination and quality improvement, ensuring the program’s feasibility and efficiency.

• MeSH
• incidence MeSH
• kolonoskopie MeSH
• kolorektální nádory * diagnóza   mortalita   prevence a kontrola   MeSH
• lidé MeSH
• okultní krev MeSH
• plošný screening metody   MeSH
• primární prevence MeSH
• řízení kvality MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH
• přehledy MeSH
• Geografické názvy
• Česká republika MeSH

Sarkopenická obezita je charakterizovaná kombinací obezity a sarkopenie. Jedná se o jedinečný klinický stav, který se odlišuje od samotné obezity a sarkopenie. Tyto dva problémy se vzájemně výrazně potencují, a tím se maximalizuje jejich vliv na morbiditu a disabilitu. Sarkopenická obezita byla dosud identifikována pomocí různých definic a diagnostických kritérií, přičemž tato roztříštěnost měla negativní dopad na rozvoj strategií prevence a léčby sarkopenické obezity u seniorů. V roce 2022 Evropská společnost parenterální a enterální výživy (ESPEN) a Evropská společnost pro studium obezity (EASO) nově definovaly diagnostická kritéria sarkopenické obezity, která sjednocují doposud četné definice.

Sarcopenic obesity is characterized by the combination of obesity and sarcopenia, Sarcopenic obesity needs to be considered as a unique clinical condition, different from obesity or sarcopenia alone. These two problems significantly potentiate each other, thereby maximizing their impact on morbidity and disability. Until now, sarcopenic obesity has been identified using different definitions and diagnostic criteria, and this fragmentation has had a negative impact on the development of prevention and treatment strategies for sarcopenic obesity in the elderly. In 2022, the European Society for Parenteral and Enteral Nutrition (ESPEN) and the European Society for the Study of Obesity (EASO) redefined the diagnostic criteria for sarcopenic obesity, unifying the previously numerous definitions.

• MeSH
• lidé MeSH
• obezita * diagnóza   komplikace   patofyziologie   terapie   MeSH
• plošný screening metody   MeSH
• rizikové faktory MeSH
• sarkopenie * diagnóza   komplikace   patofyziologie   terapie   MeSH
• senioři MeSH
• složení těla fyziologie   MeSH
• stárnutí fyziologie   MeSH
• tuky škodlivé účinky   MeSH
• Check Tag
• lidé MeSH
• senioři MeSH
• Publikační typ
• přehledy MeSH

Správná funkčnost screeningu sluchových vad je založena na jednoduché organizaci screeningu, komfortu vyšetření pro pacienta, medicínské výtěžnosti a ekonomické únosnosti. Screening sluchu novorozenců byl aktualizován Metodickým pokynem Ministerstva zdravotnictví České republiky (Věstník MZ ČR č. 14/2021). Ke screeningu sluchu fyziologických novorozenců se používají tranzientně evokované otoakustické emise (TEOAE) a u rizikových novorozenců automatická BERA (AABR – automatic auditory brainstem responses; BERA – brainstem evoked response audiometry). Screening sluchu u dětí ve věku 5 let byl ustanoven Metodickým pokynem Ministerstva zdravotnictví České republiky (Věstník MZ ČR č. 11/2018), vyšetření je prováděno pomocí tónové audiometrie. Pozitivní screening znamená záchyt sluchové vady (poruchy sluchu), negativní screening nepřítomnost poruchy sluchu. Cílem práce je na žádost redakce časopisu Česko-slovenské pediatrie podat informace o současné metodice a stavu screeningu sluchu novorozenců a u dětí ve věku 5 let v České republice. Metodika práce vychází z publikace Celoplošný screening sluchu novorozenců v České republice – databáze a nová metodika z Česko-slovenské neonatologie 2/2022. Korespondující autor: prof. MUDr. Viktor Chrobok, CSc., Ph.D. Klinika otorinolaryngologie a chirurgie hlavy a krku Fakultní nemocnice Hradec Králové Sokolská 581 500 05 Hradec Králové chrobok@fnhk.cz

The correct functionality of the screening of hearing defects is based on a simple organization of the screening, comfort of the examination for the patient, medical yield and economic viability. The newborn hearing screening has been updated by the Methodological Instruction of the Ministry of Health of the Czech Republic (Journal of the Ministry of Health of the Czech Republic No. 14/2021). Transient evoked otoacoustic emissions (TEOAE) and automatic BERA (AABR – Automatic Auditory Brainstem Responses; BERA – Brainstem Evoked Response Audiometry) are used for the hearing screening of normal newborns. Hearing screening of pre-school children aged 5 has been established by the Methodological Instruction of the Ministry of Health of the Czech Republic (Journal of the Ministry of Health of the Czech Republic No. 11/2018), and the examination is carried out by means of pure tone audiometry. A positive screening means detection of a hearing defect (suspected permanent hearing impairment), a negative screening means absence of a hearing impairment. The aim of the work is, at the request of the editors of the Journal Czech-Slovak Pediatrics, to provide information on the current methodology of hearing screening for newborns and children aged 5 years in the Czech Republic. The methodology of the work is based on the publication Comprehensive hearing screening of newborns in the Czech Republic – database and new methodology from the Czech-Slovak Neonatology 2/2022.

• MeSH
• audiometrie metody   statistika a číselné údaje   MeSH
• lidé MeSH
• novorozenec MeSH
• plošný screening * metody   organizace a řízení   statistika a číselné údaje   MeSH
• poruchy sluchu * diagnóza   prevence a kontrola   MeSH
• předškolní dítě MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• Publikační typ
• přehledy MeSH
• Geografické názvy
• Česká republika MeSH