OBJECTIVES: Stability of concentrations of urinary stone-related metabolites was analyzed from samples of recurrent urinary stone formers to assess necessity and effectiveness of urine acidification during collection and storage. METHODS: First-morning urine was collected from 20 adult calcium-stone forming patients at Tomas Bata Hospital in the Czech Republic. Urine samples were analyzed for calcium, magnesium, inorganic phosphate, uric acid, sodium, potassium, chloride, citrate, oxalate, and urine particles. The single-voided specimens were collected without acidification, after which they were divided into three groups for storage: samples without acidification ("NON"), acidification before storage ("PRE"), or acidification after storage ("POST"). The analyses were conducted on the day of arrival (day 0, "baseline"), or after storage for 2 or 7 days at room temperature. The maximum permissible difference (MPD) was defined as ±20 % from the baseline. RESULTS: The urine concentrations of all stone-related metabolites remained within the 20 % MPD limits in NON and POST samples after 2 days, except for calcium in NON sample of one patient, and oxalate of three patients and citrate of one patient in POST samples. In PRE samples, stability failed in urine samples for oxalate of three patients, and for uric acid of four patients after 2 days. Failures in stability often correlated with high baseline concentrations of those metabolites in urine. CONCLUSIONS: Detailed procedures are needed to collect urine specimens for analysis of urinary stone-related metabolites, considering both patient safety and stability of those metabolites. We recommend specific preservation steps.

• MeSH
• analýza moči metody   MeSH
• dospělí MeSH
• koncentrace vodíkových iontů MeSH
• kyselina močová moč   MeSH
• lidé středního věku MeSH
• lidé MeSH
• močové kameny * moč   MeSH
• odběr biologického vzorku metody   MeSH
• recidiva * MeSH
• sbírání vzorku moči metody   MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

PURPOSE OF REVIEW: The aim of the systematic review is to assess AI's capabilities in the genetics of prostate cancer (PCa) and bladder cancer (BCa) to evaluate target groups for such analysis as well as to assess its prospects in daily practice. RECENT FINDINGS: In total, our analysis included 27 articles: 10 articles have reported on PCa and 17 on BCa, respectively. The AI algorithms added clinical value and demonstrated promising results in several fields, including cancer detection, assessment of cancer development risk, risk stratification in terms of survival and relapse, and prediction of response to a specific therapy. Besides clinical applications, genetic analysis aided by the AI shed light on the basic urologic cancer biology. We believe, our results of the AI application to the analysis of PCa, BCa data sets will help to identify new targets for urological cancer therapy. The integration of AI in genomic research for screening and clinical applications will evolve with time to help personalizing chemotherapy, prediction of survival and relapse, aid treatment strategies such as reducing frequency of diagnostic cystoscopies, and clinical decision support, e.g., by predicting immunotherapy response. These factors will ultimately lead to personalized and precision medicine thereby improving patient outcomes.

• MeSH
• biologické markery MeSH
• lidé MeSH
• lokální recidiva nádoru genetika   MeSH
• nádory močového měchýře * diagnóza   genetika   terapie   MeSH
• prostata * MeSH
• recidiva MeSH
• umělá inteligence MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• systematický přehled MeSH

BACKGROUND: Faecal microbiota transplantation (FMT) is the standard treatment for patients with multiple recurrent Clostridioides difficile infection (rCDI). Recently, new commercially developed human microbiota-derived medicinal products have been evaluated and Food and Drug Administration-approved with considerable differences in terms of composition, administration, and targeted populations. OBJECTIVES: To review available data on the different microbiota-derived treatments at the stage of advanced clinical evaluation and research in rCDI in comparison with FMT. SOURCES: Phase II or III trials evaluating a microbiota-derived medicinal product to prevent rCDI. CONTENT: Two commercial microbiota-derived medicinal products are approved by the Food and Drug Administration: Rebyota (RBX2660 Ferring Pharmaceuticals, marketed in the United States) and VOWST (SER-109 -Seres Therapeutics, marketed in the United States), whereas VE303 (Vedanta Biosciences Inc) will be studied in phase III trial. RBX2660 and SER-109 are based on the processing of stools from healthy donors, whereas VE303 consists of a defined bacterial consortium originating from human stools and produced from clonal cell banks. All have proven efficacy to prevent rCDI compared with placebo in patients considered at high risk of recurrence. However, the heterogeneity of the inclusion criteria, and the time between each episode and CDI diagnostics makes direct comparison between trials difficult. The differences regarding the risk of recurrence between the treatment and placebo arms were lower than previously described for FMT (FMT: Δ = 50.5%; RBX2660-phase III: Δ = 13.1%; SER-109-phase III: Δ = 28%; high-dose VE303-phase-II: Δ = 31.7%). All treatments presented a good overall safety profile with mainly mild gastrointestinal symptoms. IMPLICATIONS: Stool-derived products and bacterial consortia need to be clearly distinguished in terms of product characterization and their associated risks with specific long-term post-marketing evaluation similar to registries used for FMT. Their place in the therapeutic strategy for patients with rCDI requires further studies to determine the most appropriate patient population and administration route to prevent rCDI.

• MeSH
• Clostridioides difficile * MeSH
• fekální transplantace MeSH
• klostridiové infekce * mikrobiologie   MeSH
• lidé MeSH
• mikrobiota * MeSH
• recidiva MeSH
• výsledek terapie MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

PURPOSE: The AIEOP-BFM ALL 2009 protocol included, at the end of the induction phase, a randomized study of patients with high-risk (HR) ALL to investigate if an intensive exposure to pegylated L-asparaginase (PEG-ASNASE, 2,500 IU/sqm once a week × 4) on top of BFM consolidation phase IB allowed us to decrease minimal residual disease (MRD) and improve outcome. PATIENTS AND METHODS: A total of 1,097 patients presented, from June 2010 to February 2017, with one or more of the following HR criteria: KMT2A::AFF1 rearrangement, hypodiploidy, prednisone poor response, poor bone marrow response at day 15 (Flow MRD ≥10%), or no complete remission (CR) at the end of induction. Of them, 809 (85.1%) were randomly assigned to receive (404) or not receive (405) four weekly doses of PEG-ASNASE. RESULTS: By intention to treat (ITT) analysis, there was no significant difference in the proportion of patients with polimerase chain reaction MRD ≥5 × 10-4 at the end of phase IB in the experimental versus control arm (13.9% v 17.0%, P = .25). The 5-year event-free survival (median follow-up 6.3 years) by ITT in the experimental and control arms was 70.4% (2.3) versus 75.0% (2.2; P = .18), and the 5-year overall survival was 81.5% (2.0) versus 84.0% (1.9; P = .25), respectively. The corresponding 5-year cumulative incidence of death in CR was 9.5% (1.5) versus 5.7% (1.2; P = .08), and that of relapse was 17.7% (1.9) versus 17.2% (1.9), respectively (P = .94). Adverse reactions in phase IB occurred in 22.2% and 8.9% of patients in the experimental and control arm, respectively (P < .001). CONCLUSION: Additional PEG-ASNASE in phase IB did not translate into a benefit for decreasing relapse incidence but was associated with higher toxicity. Further improvements with conventional chemotherapy might be difficult in the context of intensive treatment protocols.

• MeSH
• akutní lymfatická leukemie * MeSH
• asparaginasa * MeSH
• kojenec MeSH
• lidé MeSH
• lokální recidiva nádoru farmakoterapie   MeSH
• polyethylenglykoly MeSH
• prednison škodlivé účinky   MeSH
• přežití po terapii bez příznaků nemoci MeSH
• protokoly antitumorózní kombinované chemoterapie škodlivé účinky   MeSH
• randomizované kontrolované studie jako téma MeSH
• recidiva MeSH
• výsledek terapie MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• protokol klinické studie MeSH

Cíl: Cílem této studie bylo analyzovat klinické aspekty diagnostiky a léčby léze lícního nervu (LLN) u dětí v terciálním centru. Zaměřuje se na demografii, etiologii, diagnostický a terapeutický proces, míru úpravy po terapii a rozsah relapsů. Materiál a metodika: Retrospektivní studie, 572 pacientů (0–18 let), léčených ve fakultní nemocnici s diagnózou LLN v průběhu 10 let (2011–2021). Data byla získávaná z pacientské dokumentace. Analyzovány byly následující parametry: věk, pohlaví, strana léze, etiologie, diagnostický proces zahrnující radiologické vyšetření, léčebný proces, úprava léze po terapii a míra relapsu. Výsledky: LLN se vyskytla v 554 případech jako unilaterální, v 18 jako bilaterální bez signifikantní stranové diference. Dívky byly postiženy v 301 (52,6 %) a chlapci v 271 (47,4 %) případech. Medián věku byl stanoven na 9,4 ± 4,7 roku. Průměrné House-Brackmann (HB) skóre bylo 3,6 ± 1,0. Jako dvě nejčastější příčiny jsme prokázali infekční 264 (46,2 %) a idiopatickou 255 (44,6 %). Borelióza byla nejčastěji zastoupenou infekční příčinou u 216 (81,8 %) případů. Třetí nejčastější příčina byla neoplastická u 15 (2,6 %) případů. Následovaly traumatická, kongenitální a další. Nekompletní paréza byla detekována u 556 (97,2 %) případů a kompletní u 16 (2,8 %). Kortikosteroidy byly podány u 360 pacientů, antibiotika/antivirotika u 311 pacientů. Chirurgický výkon podstoupilo 26 pacientů. Úpravu po terapii jsme zaznamenali u 94,7 % pacientů, nezaznamenali u 5,3 %, u 1 % je údaj neznámý. U infekční příčiny prokázalo úpravu po terapii 99,2 %, u idiopatické 98 % pacientů. Pacienti s infekční, idiopatickou a traumatickou příčinou měli vyšší míru úpravy po terapii než pacienti s neoplastickou příčinou. Závěr: LLN je relativně častá akutní diagnóza v dětském věku. Bylo popsáno velké množství různých příčin, nejčastěji se vyskytuje příčina infekční a idiopatická. Pro správnou diagnózu je důležitá detailní anamnéza a klinické vyšetřeni. V léčbě převažuje terapie kortikosteroidy a antibiotiky. Názory na léčbu jsou kontroverzní. Prognóza LLN u děti je zpravidla dobrá.

Aim: This study aimed to analyze the different characteristics of FNLs in children focusing on demographics, etiology, diagnostic and therapeutic process, improvement after therapy, and relapse rate in a tertiary center. Materials and methods: A retrospective study of 572 children (0 to 18 years) who were admitted to the University Hospital with facial nerve lesion (FNL) during a 10-year period (2011–2021). The data were gathered from patients´ medical files to analyze age, sex, side of FNL, etiology, the diagnostic process including radiological examinations, treatment methods, improvement after therapy, and relapse rate. Results: There were 554 unilateral and 18 bilateral cases without significant laterality differences. Girls were affected in 301 (52.6%) cases and boys in 271 (47.4%) cases. The median age was 9.4 ± 4.7 years. The mean House-Brackmann (HB) score was 3.6 ± 1.0. Two main causes whose representation was balanced were detected. Infectious causes occurred in 264 (46.2%) cases and idiopathic causes occurred in 255 (44.6%) cases. Borreliosis was the most common infectious cause in 216 (81.8%) cases. The third most common cause was of neoplastic origin in 15 (2.6%) cases. The following causes were traumatic, congenital, and others. Incomplete FNL was detected in 556 (97.2%) cases and complete FNL was found in 16 (2.8%) cases. Corticosteroids were administered in 360 patients, and antibiotics/ antivirals were given to 311 patients. Surgery was performed in 26 patients. 94.7 % of patients showed improvement after therapy while 5.3% did not, and 1.0% had an unknown outcome. For the infectious causes, improvement after therapy was seen in 99.2% of patients and idiopathic causes saw improvement in 98% of patients. Patients with infectious, idiopathic, and traumatic causes of paresis had a higher percentage of recovery compared to patients with neoplastic causes. Conclusions: FNL in children is a relatively common acute condition in pediatric care. Many different causes of FNL were described, the most common being infectious and idiopathic. A detailed clinical history and clinical examination are mandatory. Corticosteroids and antibiotics are most commonly prescribed medicaments. Opinions on the treatment remain controversial. The prognosis of FNL in children is usually favorable.

• MeSH
• dítě MeSH
• lidé MeSH
• lymská neuroborelióza komplikace   MeSH
• mladiství MeSH
• motorické neurony patologie   MeSH
• nemoci lícního nervu * epidemiologie   etiologie   patologie   terapie   MeSH
• recidiva MeSH
• retrospektivní studie MeSH
• statistika jako téma MeSH
• věkové faktory MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH

BACKGROUND AND PURPOSE: We evaluated whether there was a difference in the occurrence of relapses pre- and post-COVID-19 vaccination in a nationwide cohort of Danish patients with relapsing multiple sclerosis. METHODS: We conducted a population-based, nationwide cohort study with a cutoff date of 1 October 2022. We used McNemar tests to assess changes in the proportion of patients with recorded relapses within 90 days and 180 days before and after first vaccine dose, and a negative binomial regression model to compare the 90 and 180 days postvaccination annualized relapse rate (ARR) to the 360 days prevaccination ARR. Multivariate Cox regression was used to estimate relapse risk factors. RESULTS: We identified 8169 vaccinated (87.3% Comirnaty) patients without a recorded history of a positive COVID-19 test. We did not find statistically significant changes in the proportion of patients with relapses in the 90 days (1.3% vs. 1.4% of patients, p = 0.627) and 180 days (2.7% vs. 2.6% of patients, p = 0.918) pre- and postvaccination. Also, a comparison of the ARR 360 days before (0.064, 95% confidence interval [CI] = 0.058-0.070) with the ARR 90 (0.057, 95% CI = 0.047-0.069, p = 0.285) and 180 (0.055, 95% CI = 0.048-0.063, p = 0.060) days after vaccination did not show statistically significant differences. Lower age, higher Expanded Disability Status Scale score, and relapse within 360 days before vaccination were associated with a higher risk of relapse. CONCLUSIONS: We did not find evidence of increased relapse activity following the administration of the first dose of the COVID-19 vaccine.

• MeSH
• chronická nemoc MeSH
• COVID-19 * prevence a kontrola   MeSH
• kohortové studie MeSH
• lidé MeSH
• recidiva MeSH
• relabující-remitující roztroušená skleróza * MeSH
• roztroušená skleróza * MeSH
• vakcinace MeSH
• vakcíny proti COVID-19 terapeutické užití   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Dánsko MeSH

Measurable residual disease (MRD) monitoring in childhood acute myeloid leukemia (AML) is used to assess response to treatment and for early detection of imminent relapse. In childhood AML, MRD is typically evaluated using flow cytometry, or by quantitative detection of leukemia-specific aberrations at the mRNA level. Both methods, however, have significant limitations. Recently, we demonstrated the feasibility of MRD monitoring in selected subgroups of AML at the genomic DNA (gDNA) level. To evaluate the potential of gDNA-based MRD monitoring across all AML subtypes, we conducted a comprehensive analysis involving 133 consecutively diagnosed children. Integrating next-generation sequencing into the diagnostic process, we identified (presumed) primary genetic aberrations suitable as MRD targets in 97% of patients. We developed patient-specific quantification assays and monitored MRD in 122 children. The gDNA-based MRD monitoring via quantification of primary aberrations with a sensitivity of at least 10-4 was possible in 86% of patients; via quantification with sensitivity of 5 × 10-4, of secondary aberrations, or at the mRNA level in an additional 8%. Importantly, gDNA-based MRD exhibited independent prognostic value at early time-points in patients stratified to intermediate-/high-risk treatment arms. Our study demonstrates the broad applicability, feasibility, and clinical significance of gDNA-based MRD monitoring in childhood AML.

• MeSH
• akutní myeloidní leukemie * diagnóza   genetika   terapie   MeSH
• dítě MeSH
• genomika MeSH
• kohortové studie MeSH
• lidé MeSH
• messenger RNA genetika   MeSH
• prognóza MeSH
• průtoková cytometrie MeSH
• recidiva MeSH
• reziduální nádor diagnóza   genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVES: In aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (AQP4-IgG NMOSD), disability accrual is mostly attributed to relapses. This study aimed to assess the prevalence of progression independent of relapse activity (PIRA) and relapse-associated worsening (RAW) in AQP4-IgG NMOSD. METHODS: This was a retrospective cohort study of patients with AQP4-IgG NMOSD enrolled in the MSBase international data registry. Patients required a minimum of 3 recorded Expanded Disability Status Scale (EDSS) scores: baseline, event, and a 6-month confirmation score. Presence and absence of relapses between the baseline and event EDSS scores determined RAW and PIRA, respectively. Descriptive statistics were used to present the results. RESULTS: A total of 181 patients followed for a median of 4.5 years (Q1 1.7, Q3 7.8) were included. Most patients were female (88.4%), and the median age at disease onset was 38.1 years. Overall, 4 patients (2.2%) developed 5 incidences of PIRA and 13 patients developed RAW (7.2%). DISCUSSION: This multicenter study highlights that PIRA is very rare in AQP4-IgG NMOSD. Limitations of this study include the sole focus of overall EDSS to measure disability, lack of requirement for a second EDSS score to confirm baseline EDSS, and the absence of magnetic resonance imaging information for all patients.

• MeSH
• akvaporin 4 * imunologie   MeSH
• autoprotilátky * krev   MeSH
• dospělí MeSH
• imunoglobulin G * krev   MeSH
• kohortové studie MeSH
• lidé středního věku MeSH
• lidé MeSH
• neuromyelitis optica * imunologie   epidemiologie   MeSH
• posuzování pracovní neschopnosti MeSH
• prevalence MeSH
• progrese nemoci * MeSH
• recidiva * MeSH
• retrospektivní studie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH

AIMS: Catheter ablation is an effective treatment method for recurrent ventricular tachycardias (VTs). However, at least in part, procedural and clinical outcomes are limited by challenges in generating an adequate lesion size in the ventricular myocardium. We investigated procedural and clinical outcomes of VT ablation using a novel 'large-footprint' catheter that allows the creation of larger lesions either by radiofrequency (RF) or by pulsed field (PF) energy. METHODS AND RESULTS: In prospectively collected case series, we describe our initial experience with VT ablation using a lattice-tip, dual-energy catheter (Sphere-9, Medtronic), and a compatible proprietary electroanatomical mapping system (Affera, Medtronic). The study population consisted of 18 patients (aged 55 ± 15 years, one woman, structural heart disease: 94%, ischaemic heart disease: 56%, left ventricular ejection fraction: 34 ± 10%, electrical storm: 22%) with recurrent sustained VTs and ≥1 previously failed endocardial RF ablation with conventional irrigated-tip catheter in 66% of patients. On average, 12 ± 7 RF and 8 ± 9 PF applications were delivered per patient. In three-fourths of patients undergoing percutaneous epicardial ablation, spasms in coronary angiography were observed after PF applications. All resolved after intracoronary administration of nitrates. No acute phrenic nerve palsy was noted. One patient suffered from a stroke that resolved without sequelae. Post-ablation non-inducibility of VT was achieved in 89% of patients. Ventricular-arrhythmia-free survival at three months was 78%. CONCLUSION: VT ablation using a dual-energy lattice-tip catheter and a novel electroanatomical mapping system is feasible. It allows rapid mapping and effective substrate modification with good outcomes during short-term follow-up.

• MeSH
• akční potenciály MeSH
• časové faktory MeSH
• design vybavení MeSH
• doba přežití bez progrese choroby MeSH
• dospělí MeSH
• elektrofyziologické techniky kardiologické * MeSH
• katetrizační ablace * metody   přístrojové vybavení   škodlivé účinky   MeSH
• komorová tachykardie * chirurgie   patofyziologie   diagnóza   MeSH
• lidé středního věku MeSH
• lidé MeSH
• prospektivní studie MeSH
• recidiva MeSH
• senioři MeSH
• srdeční katétry * MeSH
• studie proveditelnosti * MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• azathioprin aplikace a dávkování   MeSH
• dospělí MeSH
• fluorescenční protilátková technika přímá MeSH
• hormony kůry nadledvin aplikace a dávkování   MeSH
• lidé MeSH
• pemfigus * diagnóza   farmakoterapie   patologie   MeSH
• recidiva MeSH
• rituximab * aplikace a dávkování   farmakologie   MeSH
• terapie neúspěšná MeSH
• ústa patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH