Nedoslýchavost a hluchota patří mezi nejzávažnější smyslové vady. Obvykle se jedná o vrozené poruchy a v případě genetického podkladu se nejčastěji dědí autozomálně recesivně. Jejich časný záchyt je stěžejní, neboť normální sluch je zásadní pro vývoj řeči, kognice a komunikace. Metodou sekundární prevence je screening, který se v České republice provádí dle metodických pokynů u novorozenců a pětiletých dětí. Předkládané sdělení se věnuje jednotlivým užívaným metodám screeningového vyšetření sluchu u dětí. Korespondující autor: MUDr. Pavel Hermann Alfamedica, s.r.o. Mánesova 1056/41 120 00 Praha 2 info@usni.cz

Hearing loss and deafness are among the most serious sensory defects. These are usually congenital disorders and in the case of genetic background are most often inherited autosomal recessively. Their early detection is crucial as normal hearing is essential for the development of speech, cognition and communication. The secondary prevention method is screening, which according to the methodological guidelines is carried out in the Czech Republic in newborns and five-year-old children. The presented articles deals with the individual methods used.

• MeSH
• hluchota prevence a kontrola   MeSH
• lidé MeSH
• nedoslýchavost * prevence a kontrola   MeSH
• novorozenec MeSH
• novorozenecký screening metody   organizace a řízení   MeSH
• poruchy sluchu klasifikace   prevence a kontrola   MeSH
• předškolní dítě MeSH
• sekundární prevence * metody   organizace a řízení   statistika a číselné údaje   MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• Publikační typ
• přehledy MeSH

Cévní mozkové příhody (CMP) jsou jednou z nejčastějších kardiovaskulárních komplikací, přičemž arteriální hypertenze je považována za nejvýznamnější rizikový faktor. Odhaduje se, že více než 50 % CMP je způsobeno hypertenzí a vysoký krevní tlak sám o sobě zvyšuje riziko CMP3–4×! Hypertenze je navíc samostatným rizikovým faktorem pro vznik fibrilace síní. Následující stručný souhrn se zabývá přístupy k antihypertenzní léčbě u primární a sekundární prevence cévních mozkových příhod. Adekvátní kontrola hypertenze farmakologickou léčbou vede (kromě jiných benefitů) k významnému snížení rizika jak ischemických, tak i hemorhagických CMP. Časně zahájená antihypertenzní léčba zpomaluje i rozvoj kognitivních poruch. V textu jsou stručně sumarizovány současné přístupy k farmakologické antihypertenzní intervenci. Léčba hypertenze v akutní fázi CMP závisí na vyvolávající příčině, použité léčbě a časovém odstupu od vzniku symptomů. Podrobnosti přesahují rámec tohoto textu.

Strokes are among the most common cardiovascular complications, with arterial hypertension being considered the most significant risk factor. It is estimated that more than 50% of strokes are caused by hypertension, and high blood pressure alone increases the risk of stroke by 3-4 times! Furthermore, hypertension is an independent risk factor for the development of atrial fibrillation. The following brief summary addresses approaches to antihypertensive treatment in the primary and secondary prevention of strokes. Adequate control of hypertension through pharmacological treatment leads (among other benefits) to a significant reduction in the risk of both ischemic and hemorrhagic strokes. Early initiation of antihypertensive treatment also slows the progression of cognitive disorders. This text briefly summarizes current approaches to pharmacological antihypertensive intervention. The treatment of hypertension in the acute phase of a stroke depends on the underlying cause, the treatment used, and the time elapsed since the onset of symptoms. Details are beyond the scope of this text.

• MeSH
• antihypertenziva terapeutické užití   MeSH
• cévní mozková příhoda * etiologie   prevence a kontrola   MeSH
• hypertenze farmakoterapie   komplikace   prevence a kontrola   MeSH
• lidé MeSH
• primární prevence metody   MeSH
• rizikové faktory kardiovaskulárních chorob MeSH
• sekundární prevence metody   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH

BACKGROUND: Atherosclerotic cardiovascular disease (ACVD) is worsened by chronic inflammatory diseases. Interleukin receptor antagonists (IL-RAs) and tumour necrosis factor-alpha (TNF) inhibitors have been studied to see if they can prevent cardiovascular events. OBJECTIVES: The purpose of this study was to assess the clinical benefits and harms of IL-RAs and TNF inhibitors in the primary and secondary prevention of ACVD. SEARCH METHODS: The Cochrane Heart Specialised Register, the Cochrane Central Register of Controlled Trials (CENTRAL), Ovid MEDLINE (including In-Process & Other Non-Indexed Citations), Ovid Embase, EBSCO CINAHL plus, and clinical trial registries for ongoing and unpublished studies were searched in February 2024. The reference lists of relevant studies, reviews, meta-analyses and health technology reports were searched to identify additional studies. No limitations on language, date of publication or study type were set. SELECTION CRITERIA: RCTs that recruited people with and without pre-existing ACVD, comparing IL-RAs or TNF inhibitors versus placebo or usual care, were selected. The primary outcomes considered were all-cause mortality, myocardial infarction, unstable angina, and adverse events. DATA COLLECTION AND ANALYSIS: Two or more review authors, working independently at each step, selected studies, extracted data, assessed the risk of bias and used GRADE to judge the certainty of evidence. MAIN RESULTS: We included 58 RCTs (22,053 participants; 21,308 analysed), comparing medication efficacy with placebo or usual care. Thirty-four trials focused on primary prevention and 24 on secondary prevention. The interventions included IL-1 RAs (anakinra, canakinumab), IL-6 RA (tocilizumab), TNF-inhibitors (etanercept, infliximab) compared with placebo or usual care. The certainty of evidence was low to very low due to biases and imprecision; all trials had a high risk of bias. Primary prevention: IL-1 RAs The evidence is very uncertain about the effects of the intervention on all-cause mortality(RR 0.33, 95% CI 0.01 to 7.58, 1 trial), myocardial infarction (RR 0.71, 95% CI 0.04 to 12.48, I2 = 39%, 2 trials), unstable angina (RR 0.24, 95% CI 0.03 to 2.11, I2 = 0%, 2 trials), stroke (RR 2.42, 95% CI 0.12 to 50.15; 1 trial), adverse events (RR 0.85, 95% CI 0.59 to 1.22, I2 = 54%, 3 trials), or infection (rate ratio 0.84, 95% 0.55 to 1.29, I2 = 0%, 4 trials). Evidence is very uncertain about whether anakinra and cankinumab may reduce heart failure (RR 0.21, 95% CI 0.05 to 0.94, I2 = 0%, 3 trials). Peripheral vascular disease (PVD) was not reported as an outcome. IL-6 RAs The evidence is very uncertain about the effects of the intervention on all-cause mortality (RR 0.68, 95% CI 0.12 to 3.74, I2 = 30%, 3 trials), myocardial infarction (RR 0.27, 95% CI 0.04 to1.68, I2 = 0%, 3 trials), heart failure (RR 1.02, 95% CI 0.11 to 9.63, I2 = 0%, 2 trials), PVD (RR 2.94, 95% CI 0.12 to 71.47, 1 trial), stroke (RR 0.34, 95% CI 0.01 to 8.14, 1 trial), or any infection (rate ratio 1.10, 95% CI: 0.88 to 1.37, I2 = 18%, 5 trials). Adverse events may increase (RR 1.13, 95% CI 1.04 to 1.23, I2 = 33%, 5 trials). No trial assessed unstable angina. TNF inhibitors The evidence is very uncertain about the effects of the intervention on all-cause mortality (RR 1.78, 95% CI 0.63 to 4.99, I2 = 10%, 3 trials), myocardial infarction (RR 2.61, 95% CI 0.11 to 62.26, 1 trial), stroke (RR 0.46, 95% CI 0.08 to 2.80, I2 = 0%; 3 trials), heart failure (RR 0.85, 95% CI 0.06 to 12.76, 1 trial). Adverse events may increase (RR 1.13, 95% CI 1.01 to 1.25, I2 = 51%, 13 trials). No trial assessed unstable angina or PVD. Secondary prevention: IL-1 RAs The evidence is very uncertain about the effects of the intervention on all-cause mortality (RR 0.94, 95% CI 0.84 to 1.06, I2 = 0%, 8 trials), unstable angina (RR 0.88, 95% CI 0.65 to 1.19, I2 = 0%, 3 trials), PVD (RR 0.85, 95% CI 0.19 to 3.73, I2 = 38%, 3 trials), stroke (RR 0.94, 95% CI 0.74 to 1.2, I2 = 0%; 7 trials), heart failure (RR 0.91, 95% 0.5 to 1.65, I2 = 0%; 7 trials), or adverse events (RR 0.92, 95% CI 0.78 to 1.09, I2 = 3%, 4 trials). There may be little to no difference between the groups in myocardial infarction (RR 0.88, 95% CI 0.0.75 to 1.04, I2 = 0%, 6 trials). IL6-RAs The evidence is very uncertain about the effects of the intervention on all-cause mortality (RR 1.09, 95% CI 0.61 to 1.96, I2 = 0%, 2 trials), myocardial infarction (RR 0.46, 95% CI 0.07 to 3.04, I2 = 45%, 3 trials), unstable angina (RR 0.33, 95% CI 0.01 to 8.02, 1 trial), stroke (RR 1.03, 95% CI 0.07 to 16.25, 1 trial), adverse events (RR 0.89, 95% CI 0.76 to 1.05, I2 = 0%, 2 trials), or any infection (rate ratio 0.66, 95% CI 0.32 to 1.36, I2 = 0%, 4 trials). No trial assessed PVD or heart failure. TNF inhibitors The evidence is very uncertain about the effect of the intervention on all-cause mortality (RR 1.16, 95% CI 0.69 to 1.95, I2 = 47%, 5 trials), heart failure (RR 0.92, 95% 0.75 to 1.14, I2 = 0%, 4 trials), or adverse events (RR 1.15, 95% CI 0.84 to 1.56, I2 = 32%, 2 trials). No trial assessed myocardial infarction, unstable angina, PVD or stroke. Adverse events may be underestimated and benefits inflated due to inadequate reporting. AUTHORS' CONCLUSIONS: This Cochrane review assessed the benefits and harms of using interleukin-receptor antagonists and tumour necrosis factor inhibitors for primary and secondary prevention of atherosclerotic diseases compared with placebo or usual care. However, the evidence for the predetermined outcomes was deemed low or very low certainty, so there is still a need to determine whether these interventions provide clinical benefits or cause harm from this perspective. In summary, the different biases and imprecision in the included studies limit their external validity and represent a limitation to determining the effectiveness of the intervention for both primary and secondary prevention of ACVD.

• MeSH
• ateroskleróza * prevence a kontrola   mortalita   MeSH
• humanizované monoklonální protilátky * aplikace a dávkování   škodlivé účinky   MeSH
• infarkt myokardu * prevence a kontrola   mortalita   MeSH
• lidé MeSH
• nestabilní angina pectoris prevence a kontrola   mortalita   MeSH
• příčina smrti MeSH
• primární prevence * metody   MeSH
• randomizované kontrolované studie jako téma MeSH
• receptory interleukinu-1 * antagonisté a inhibitory   MeSH
• sekundární prevence * metody   MeSH
• TNF-alfa * antagonisté a inhibitory   MeSH
• zkreslení výsledků (epidemiologie) MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• metaanalýza MeSH
• systematický přehled MeSH

• MeSH
• filozofie * MeSH
• kvartérní prevence metody   MeSH
• lidé MeSH
• nádory * prevence a kontrola   MeSH
• plošný screening metody   MeSH
• primární prevence metody   MeSH
• sekundární prevence metody   MeSH
• terciární prevence metody   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH

BACKGROUND AND AIMS: Ileocaecal resection (ICR) is frequent in paediatric patients with Crohn's disease (pCD). Despite rates of reoperation being low, the risk of clinical or endoscopic post-operative recurrence (POR) is high; effective medical strategies to prevent POR are thus needed. The aim of this systematic review (SR) was to identify and evaluate the published literature on post-operative medical prevention of POR in pCD to draft a possible therapy guide for pCD patients undergoing ICR. METHODS: We performed an SR according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards and registered it in the PROSPERO database (ID: CRD42024533855). The population, intervention, control, outcome (PICO) model was focussed on post-surgical medical prevention of POR in pCD with clearly expressed definition of recurrence (endoscopically using a standardized scoring system (e.g. Rutgeerts score) or by laboratory markers, for example, faecal calprotectin (F-CPT), C-reactive protein (CRP) or by histological findings or by clinical activity indexes [e.g. weighted paediatric Crohn's disease activity index - (w)PCDAI]. From inception until 29 February 2024, the following databases were searched: PubMed/MEDLINE, Scopus/Embase, Web of Sciences, Evidence-Based Medicine Reviews (including Cochrane), Cochrane Central Registrar of controlled Trials (CENTRAL), ClinicalTrials.gov and EudraCT. Retrieved articles were evaluated for eligibility and finally selected publications for risk of bias using ROBINS-I tool. RESULTS: Out of 811 publications identified by the search, only 5 fulfilled inclusion criteria of the SR. None of the studies fully answered our PICO question. The studies were overall of poor quality and the heterogeneity of the data did not allow us to perform meta-analysis, detailed statistical analysis or formal synthesis of data. Adverse events of post-operative medication were not described in any of the included studies. Existing guidelines of European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN), North American Society for Paediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN), European Crohn's and Colitis Organisation (ECCO) and American Gastroenterological Association (AGA) were reviewed and paediatric therapy guide for pCD undergoing ICR was drafted with respect to recent SRs and meta-analyses in adult population and including scarce paediatric data identified by our SR. As pCD patients undergoing ICR are a high-risk population, they should not be left untreated post-operatively. Anti-tumour necrosis factor (anti-TNF) drugs should be considered as first-line therapy in the majority of patients. Non-anti-TNF biologics should be considered in case of anti-TNF failure. Regular endoscopic monitoring starting at 6 months after the surgery and supported by regular F-CPT evaluation should be used to identify early endoscopic recurrence and to escalate the treatment. CONCLUSION: Our SR revealed that there is wide variability in treatment strategies in children, and high-quality data are generally lacking. At the moment, paediatric prophylaxis of POR should be guided by available adult evidence with respect to the high-risk nature of pCD. Extensive research in pCD should be encouraged.

• MeSH
• cékum chirurgie   MeSH
• Crohnova nemoc * chirurgie   prevence a kontrola   MeSH
• dítě MeSH
• ileum chirurgie   MeSH
• lidé MeSH
• pooperační komplikace prevence a kontrola   MeSH
• recidiva * MeSH
• sekundární prevence metody   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• systematický přehled MeSH

Doporučené postupy klinické péče o nosiče patogenních variant v klinicky relevantních nádorových predispozičních genech definují kroky primární a sekundární prevence, která by měla být těmto osobám ve vysokém riziku vzniku dědičných nádorů v ČR poskytnuta. Tvorba doporučení byla organizována pracovní skupinou onkogenetiky Společnosti lékařské genetiky a genomiky (SLG ČLS JEP) ve spolupráci se zástupci onkologie a onkogynekologie. Doporučené postupy vycházejí z aktuálních doporučení National Comprehensive Cancer Network (NCCN), European Society of Medical Oncology (ESMO) a zohledňují kapacitní možnosti našeho zdravotnictví.

The Guidelines for Clinical Practice for carriers of pathogenic variants in clinically relevant cancer predisposition genes define the steps of primary and secondary prevention that should be provided to these individuals at high risk of developing hereditary cancer in the Czech Republic. The drafting of the guidelines was organized by the Oncogenetics Working Group of the Society for Medical Genetics and Genomics of J. E. Purkyně Czech Medical Society (SLG ČLS JEP) in cooperation with the representatives of oncology and oncogynecology. The guidelines are based on the current recommendations of the National Comprehensive Cancer Network (NCCN), European Society of Medical Oncology (ESMO) and take into account the capacity of the Czech healthcare system.

• MeSH
• ATM protein genetika   MeSH
• checkpoint kinasa 2 genetika   MeSH
• genetická predispozice k nemoci * MeSH
• geny BRCA1 MeSH
• geny BRCA2 MeSH
• nádory prostaty diagnóza   genetika   prevence a kontrola   MeSH
• nádory prsu diagnóza   genetika   prevence a kontrola   MeSH
• nádory slinivky břišní diagnóza   genetika   prevence a kontrola   MeSH
• nádory vaječníků diagnóza   genetika   prevence a kontrola   MeSH
• primární prevence metody   MeSH
• protein FANCN genetika   MeSH
• sekundární prevence metody   MeSH
• směrnice pro lékařskou praxi jako téma MeSH
• zárodečné mutace MeSH

BACKGROUND AND OBJECTIVE: The aim of this review was to define patients who are at high risk of recurrence of urolithiasis, to delineate diagnostic and therapeutic algorithms for each type of stone, and to clarify general guidelines and recommendations for prevention of recurrence. METHODS: A professional research librarian carried out literature searches for all sections of the urolithiasis guidelines, covering the timeframe between 1976 and June 2023. KEY FINDINGS AND LIMITATIONS: For every patient with urolithiasis, an attempt should be made to analyse the stone. Patients should be given general instructions on how to prevent recurrence, including adequate fluid and calcium intake, and low consumption of sodium and protein. Identifying and correcting the causative factors is a cornerstone in preventing the recurrence of urolithiasis. Diagnostic and therapeutic algorithms by stone composition are available. Every patient should undergo baseline metabolic screening, while patients with calcium stones, who are at high risk of relapse and complications, should undergo extensive metabolic screening with two 24-h urine collections and should receive targeted therapy. Patients with uric acid, infection, or cystine stones are at high risk of relapse. All patients at high risk of recurrence should be closely monitored, especially those not complying with therapy in the long term. CONCLUSIONS AND CLINICAL IMPLICATIONS: Metabolic stone evaluation and patient follow-up are highly recommended to prevent urolithiasis recurrence.

• MeSH
• hodnocení rizik MeSH
• lidé MeSH
• močové kameny * prevence a kontrola   terapie   MeSH
• recidiva * MeSH
• rizikové faktory MeSH
• sekundární prevence * metody   MeSH
• směrnice pro lékařskou praxi jako téma MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• směrnice pro lékařskou praxi MeSH

Asi u 25 % pacientů s renálním karcinomem (RCC) dochází k recidivě po radikálním odstranění nádoru. Po několika desetiletích neúspěšných klinických studií jsme se dočkali významného pokroku a nového standardu adjuvantní léčby pacientů s RCC a vyšším rizikem recidivy. Randomizovaná, dvojitě zaslepená studie KEYNOTE-564 prokázala, že pembrolizumab podávaný po dobu 1 roku významně zlepšuje přežití bez rekurence i celkové přežití. Léčba je plně hrazená a je novým standardem v terapii RCC.

Approximately 25% of patients with renal cell carcinoma (RCC) relapse after radical removal of the tumour. After several decades of unsuccessful clinical trials, significant progress has been achieved recently and a new standard of adjuvant treatment for patients with RCC and a higher risk of recurrence has been established. The randomized, double-blind KEYNOTE-564 trial demonstrated that pembrolizumab administered for 1 year after surgery significantly improved both recurrence-free and overall survival. The treatment is fully reimbursed and is the new standard in RCC therapy.

• Klíčová slova
• pembrolizumab,
• MeSH
• adjuvantní chemoterapie * metody   MeSH
• analýza přežití MeSH
• everolimus aplikace a dávkování   MeSH
• imunoterapie metody   MeSH
• inhibitory tyrosinkinasy terapeutické užití   MeSH
• klinická studie jako téma MeSH
• lidé MeSH
• nádory ledvin * farmakoterapie   terapie   MeSH
• randomizované kontrolované studie jako téma MeSH
• riziko MeSH
• sekundární prevence metody   MeSH
• TOR serin-threoninkinasy antagonisté a inhibitory   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH

BACKGROUND: Anti-inflammatory therapy with long-term colchicine prevented vascular recurrence in coronary disease. Unlike coronary disease, which is typically caused by atherosclerosis, ischaemic stroke is caused by diverse mechanisms including atherosclerosis and small vessel disease or is frequently due to an unknown cause. We aimed to investigate the hypothesis that long-term colchicine would reduce recurrent events after ischaemic stroke. METHODS: We did a randomised, parallel-group, open-label, blinded endpoint assessed trial comparing long-term colchicine (0·5 mg orally per day) plus guideline-based usual care with usual care only. Hospital-based patients with non-severe, non-cardioembolic ischaemic stroke or high-risk transient ischaemic attack were eligible. The primary endpoint was a composite of first fatal or non-fatal recurrent ischaemic stroke, myocardial infarction, cardiac arrest, or hospitalisation (defined as an admission to an inpatient unit or a visit to an emergency department that resulted in at least a 24 h stay [or a change in calendar date if the hospital admission or discharge times were not available]) for unstable angina. The p value for significance was 0·048 to adjust for two prespecified interim analyses conducted by the data monitoring committee, for which the steering committee and trial investigators remained blinded. The trial was registered at ClinicalTrials.gov (NCT02898610) and is completed. FINDINGS: 3154 patients were randomly assigned between Dec 19, 2016, and Nov 21, 2022, with the last follow-up on Jan 31, 2024. The trial finished before the anticipated number of outcomes was accrued (367 outcomes planned) due to budget constraints attributable to the COVID-19 pandemic. Ten patients withdrew consent for analysis of their data, leaving 3144 patients in the intention-to-treat analysis: 1569 (colchicine and usual care) and 1575 (usual care alone). A primary endpoint occurred in 338 patients, 153 (9·8%) of 1569 patients allocated to colchicine and usual care and 185 (11·7%) of 1575 patients allocated to usual care alone (incidence rates 3·32 vs 3·92 per 100 person-years, hazard ratio 0·84; 95% CI 0·68-1·05, p=0·12). Although no between-group difference in C-reactive protein (CRP) was observed at baseline, patients treated with colchicine had lower CRP at 28 days and at 1, 2, and 3 years (p<0·05 for all timepoints). The rates of serious adverse events were similar in both groups. INTERPRETATION: Although no statistically significant benefit was observed on the primary intention-to-treat analysis, the findings provide new evidence supporting the rationale for anti-inflammatory therapy in further randomised trials. FUNDING: Health Research Board Ireland, Deutsche Forschungsgemeinschaft (German Research Foundation), and Fonds Wetenschappelijk Onderzoek Vlaanderen (Research Foundation Flanders), Belgium.

• MeSH
• cévní mozková příhoda prevence a kontrola   MeSH
• hospitalizace statistika a číselné údaje   MeSH
• infarkt myokardu prevence a kontrola   MeSH
• ischemická cévní mozková příhoda * prevence a kontrola   MeSH
• kolchicin * aplikace a dávkování   terapeutické užití   MeSH
• lidé středního věku MeSH
• lidé MeSH
• recidiva MeSH
• sekundární prevence * metody   MeSH
• senioři MeSH
• tranzitorní ischemická ataka prevence a kontrola   farmakoterapie   MeSH
• výsledek terapie MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• randomizované kontrolované studie MeSH

• MeSH
• antagonista receptoru pro interleukin 1 terapeutické užití   MeSH
• B-lymfocyty patologie   účinky léků   MeSH
• biomarkery farmakologické MeSH
• chimerické antigenní receptory * účinky léků   MeSH
• lymfohistiocytóza hemofagocytární diagnóza   farmakoterapie   patofyziologie   MeSH
• monitorování fyziologických funkcí MeSH
• nežádoucí účinky léčiv MeSH
• premedikace metody   MeSH
• receptory interleukinu-6 antagonisté a inhibitory   MeSH
• sekundární prevence metody   MeSH
• syndrom uvolnění cytokinů chemicky indukované   farmakoterapie   prevence a kontrola   MeSH
• testy toxicity MeSH
• vakcinace MeSH
• Publikační typ
• novinové články MeSH