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BACKGROUND AND OBJECTIVE: Non-muscle-invasive bladder cancer (NMIBC) poses a significant clinical challenge, particularly when failing bacillus Calmette-Guérin (BCG) therapy, necessitating alternative treatments. Despite radical cystectomy being the recommended treatment, many patients are unfit or unwilling to undergo this invasive procedure, highlighting the need for effective bladder-sparing therapies. This review aims to summarize and report the evidence on the efficacy and to estimate the costs of bladder-preserving strategies used in NMIBC recurrence after failure of intravesical BCG therapy. METHODS: We systematically searched online databases for prospective studies investigating intravesical therapy, systemic therapy, or combination of both in patients treated previously with BCG. Owing to significant heterogeneity across the studies, a meta-analysis was inappropriate. A sensitivity analysis was performed in an exploratory manner. We used a decision-analytic Markov model to compare novel U.S. Food and Drug Administration-approved treatments with a 2-yr time horizon. KEY FINDINGS AND LIMITATIONS: A total of 57 studies published between 1998 and 2024, with 68 unique study arms and consisting of 2589 patients, were identified. The 3-mo overall response rate (ORR) across all studies, complete response rate (CRR) in concomitant carcinoma in situ (CIS) or CIS only disease, and recurrence-free rate (RFR) in papillary disease were estimated to be 52.4% (95% confidence interval [CI]: 45.4-59.2), 52.8% (95% CI: 42.9-62.6), and 26.4% (95% CI: 13.3-45.6), respectively. The 12-mo ORR, CRR, and RFR were estimated to be 78% (95% CI: 52.9-91.8), 27.8% (95% CI: 21.3-35.4), and 25.4% (95% CI: 18.2-34.2), respectively. The progression rate was estimated to be 13% (95% CI: 9-18.2). The mean proportion of patients treated with radical cystectomy was estimated to be 24.7 (range 0-85.7). The reported toxicity grades were overall mild, with a median of 3.4% (range 0-33.3%) participants experiencing a dose limiting toxicity. Compared with using radical cystectomy to treat patients failing BCG therapy, at a willingness-to-pay threshold of 100 000 USD, nadofaragene firadenovec was cost effective, with an incremental cost-effectiveness ratio (ICER) of 10 014 USD per quality-adjusted life year (QALY), while nogapendekin alfa inbakicept was less cost effective than nadofaragene firadenovec (ICER of 44 602 USD per QALY). Pembrolizumab, which dominated, was both less costly and more effective than the other strategies. CONCLUSIONS AND CLINICAL IMPLICATIONS: Salvage bladder-sparing therapies show a response rate of around 50% at 3 mo in patients with NMIBC failing BCG. However, long-term data are heterogeneous. Nevertheless, recently developed agents show promising tumor control activity. In the rapidly evolving landscape of urothelial cancer, some of these treatment strategies might be cost effective and improve patients' quality of life. The findings of our review highlight the need for novel, more effective therapeutic strategies. PATIENT SUMMARY: In this study, we reviewed the evidence on the efficacy of bladder-preserving strategies used in patients with bladder cancer recurrence after failing bacillus Calmette-Guérin (BCG) therapy. We found that these strategies show a response rate of around 50% at 3 mo. However, long-term data are heterogeneous. Nevertheless, recently developed agents show promising tumor control activity. In the rapidly evolving landscape of urothelial cancer, some of these treatment strategies might be cost effective and improve patients' quality of life.
- MeSH
- adjuvancia imunologická * terapeutické užití ekonomika MeSH
- analýza nákladů a výnosů * MeSH
- aplikace intravezikální MeSH
- BCG vakcína * terapeutické užití ekonomika MeSH
- invazivní růst nádoru MeSH
- lidé MeSH
- lokální recidiva nádoru MeSH
- nádory močového měchýře neinvadující svalovinu MeSH
- nádory močového měchýře * farmakoterapie patologie terapie ekonomika MeSH
- neúspěšná terapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- systematický přehled MeSH
The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments. There has been a great need for a collection of phenopackets to test software pipelines and algorithms. Here, we present Phenopacket Store. Phenopacket Store v.0.1.19 includes 6,668 phenopackets representing 475 Mendelian and chromosomal diseases associated with 423 genes and 3,834 unique pathogenic alleles curated from 959 different publications. This represents the first large-scale collection of case-level, standardized phenotypic information derived from case reports in the literature with detailed descriptions of the clinical data and will be useful for many purposes, including the development and testing of software for prioritizing genes and diseases in diagnostic genomics, machine learning analysis of clinical phenotype data, patient stratification, and genotype-phenotype correlations. This corpus also provides best-practice examples for curating literature-derived data using the GA4GH Phenopacket Schema.
- MeSH
- algoritmy MeSH
- databáze genetické MeSH
- fenotyp * MeSH
- genomika * metody MeSH
- lidé MeSH
- software * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Úvod a cíl: Autotransplantace zubů u dospělých pacientů představuje výzvu kvůli nízké pravděpodobnosti revaskularizace zubní dřeně vyžadující ošetření kořenových kanálků. Toto ošetření nejen komplikuje celkové ošetření, ale v některých případech jej činí neproveditelným. Cílem této práce je prozkoumat alternativní postupy pro autotransplantaci zubů u dospělých pacientů, které by eliminovaly potřebu následného ošetření kořenových kanálků donorového zubu. Metodika: Pro zodpovězení této otázky provedl autor rešerši v online databázích Scopus, Web of Science a MEDLINE. Výsledky: Současné protokoly pro autotransplantované zuby s ukončeným vývojem doporučují ošetření kořenových kanálků před operací anebo 14 dní po operaci. Studie řídící se těmito protokoly prezentují vysokou úspěšnost a prediktabilitu. Alternativním přístupem je zahájit ošetření kořenových kanálků pouze v případě výskytu postoperačních komplikací. Tento přístup však přináší výzvy v postoperačním hodnocení klinického stavu zubní dřeně. Pro zvýšení potenciálu zubní dřeně pro revaskularizaci lze provést extraorální resekci kořenového hrotu (EORR). Závěr: Pro klinickou praxi je důležitý správný výběr případů i s ohledem na anatomii endodontu. Riziko komplikací alternativních postupů ve srovnání se současnými protokoly zastiňuje potenciální benefity. EORR v kombinaci s metodami umožňujícími objektivní měření revaskularizace zubní dřeně může představovat možnosti pro další výzkum.
Introduction and aim: Tooth autotransplantation in adult patients presents a challenge due to the low probability of pulp revascularization, often requiring root canal treatment (RCT). RCT not only complicates the overall procedure, but in some cases makes the procedure unfeasible. The aim of this review is to explore alternative procedures for tooth autotransplantation in adult patients that could eliminate the need for elective RCT of the donor tooth. Materials: To address this question, the authors conducted a literature search in the online databases Scopus, Web of Science, and MEDLINE. Results: The current protocols involve performing RCT before or 14 days after surgery. Recent studies that follow these protocols show high predictability and success rate. An alternative approach is to initiate RCT only in the case of postoperative complications. However, this protocol poses challenges in the postoperative assessment of the clinical condition of the pulp. To enhance the potential for pulp revascularization, an extraoral root-end resection (EORR) may be performed. Conclusion: For clinical practice, proper case selection, including consideration of endodontic anatomy, is crucial. The risk of complications associated with alternative approaches outweighs their potential benefits compared to current protocols. EORR, combined with methods enabling an objective measurement of pulp revascularization, may offer opportunities for further research.
Background: Common knowledge of heart failure treatment target is to intervene in the renin-angiotensin-aldosterone system and the sympathetic autonomic nervous system. However, metabolic aspect in the therapy of heart failure is rarely discussed. It is worth noting that heart failure often co-exist with diabetes. Thus, there is a need for a treatment that can be beneficial for these two diseases. During the pathophysiological transition to heart failure, metabolic abnormalities may occur, and lactic acid, ketone bodies, and amino acids may be used as alternative energy sources. Ketone body has been shown to be associated with these two diseases. Treatment using ketone body may be beneficial to treat patients with heart failure and diabetes. Objective: To provide a comprehensive review of preclinical and clinical studies on the therapeutic effects of ketone bodies for heart failure. Method: This study is literature reviews on online databases using keywords according to the Medical Subject Headings (MeSH). The focused intervention is ketone bodies therapy (sodium-3-OHB) or SGLT2i as ketone inducer. We focused on the result of therapy and any ketosis side effect recorded. Results: A total of 14 studies (6 human studies and 8 animal studies) related on the therapeutic effects of ketone bodies was selected. A total of 8,742 (8 healthy participants) participants was involved in ketone bodies therapy (sodium-3-OHB) or SGLT2i intervention. Conclusion: Ketogenic therapy and systemic ketosis regulation show promise based on metabolic changes in the hearts of patients with diabetes and heart failure. This study may provide a literature basis for further research to determine the safety and efficacious limitations of long-term ketone body therapy.
Kontext: Je obecně známo, že léčba srdečního selhání je založena na inhibici systému renin-angiotensin-aldosteron a snižování aktivity sympatického autonomního nervového systému. Při léčbě srdečního selhání se však zřídkakdy zvažuje možnost ovlivnění metabolismu. Je třeba poznamenat, že srdeční selhání se často vyskytuje současně s diabetem. Proto musí léčba příznivě ovlivňovat obě tato onemocnění. V průběhu patofyziologického přechodu k srdečnímu selhání může dojít k rozvoji metabolických abnormalit a jako alternativních zdrojů energie lze použít kyselinu mléčnou, ketolátky a aminokyseliny. Spojitost ketolátek s oběma onemocněními byla prokázána. Pro pacienty se srdečním selháním a diabetem by léčba s použitím ketolátek mohla být přínosná. Cíl: Vypracovat komplexní přehled preklinických a klinických studií zkoumajících léčebné účinky ketolátek u srdečního selhání. Metoda: tato studie je přehledem literatury dostupné v online databázích a vyhledané pomocí klíčových slov uvedených v biomedicínském slovníku (tezauru) Medical Subject headings (MeSh). hledanou intervencí byla terapie ketolátkami (3-hydroxybutyrát sodný, sodium-3-ohB) nebo inhibitorem sodíko-glukózového transportéru typu 2 (SGlt2) jako aktivátorem tvorby ketolátek. Zaměřili jsme se na výsledky léčby a jakékoli zaznamenané nežádoucí účinky ketózy. Výsledky: Bylo vybráno celkem 14 studií (šest u lidí a osm se zvířaty) zabývajících se léčebnými účinky ketolátek. terapii ketolátkami (3-ohB sodný) nebo intervenci inhibitorem SGlt2 podstoupilo celkem 8 742 (8 zdravých jedinců) účastníků studií. Závěr: Ketoterapie a systémová regulace ketózy se zdají být slibnými způsoby léčby díky změnám metabolismu srdcí pacientů s diabetem a srdečním selháním. tato studie by se mohla stát literárním základem pro další výzkum s cílem určit bezpečnost a hranice účinnosti dlouhodobé léčby ketolátkami.
Aim: The aim of this integrative literature review was to identify and synthetize empowering educational actions (EEA) that can be taken by nurses to support the empowerment of patients with long-term health problems. Design: An integrative literature review. Methods: The review followed methodology by Whittemore and Knafl. Four databases (PubMed, Web of Science, CINAHL, Scopus) were searched between January 2000 and October 2023 for relevant studies published in English. After complimentary manual searches, the quality of the included studies (n = 9) was assessed independently by two researchers using a tool by Hawker et al. Data were analyzed using inductive content analysis. Results: Three main categories of nurses' actions were synthetized: supporting patients' knowledge and skills, supporting patients' well-being, and supporting trust-based relationships and collaboration. Conclusion: Empowering patient education (EPE) is essential in supporting patients with long-term health problems to manage their own health. Nurses use varied empowering educational actions as part of EPE. The review's results can be used to increase awareness and understanding of actions nurses can take to support empowerment of patients with long-term health problems as part of patient education both in clinical practice and nursing education.
- MeSH
- chronická nemoc ošetřování MeSH
- empowerment MeSH
- odborná způsobilost MeSH
- statistika jako téma MeSH
- ukládání a vyhledávání informací metody MeSH
- vzdělávání pacientů jako téma * klasifikace metody MeSH
- vztahy mezi ošetřovatelkou a pacientem MeSH
- zdravotní sestry * MeSH
- Publikační typ
- systematický přehled MeSH
Aim: Emotional intelligence (EI) is increasingly recognized as an essential competency in nursing leadership. This study explores how EI shapes the fundamental components of nursing leadership and its impact on healthcare outcomes. Design: The study is classified as qualitative research. Methods: A comprehensive literature review was performed using databases including EBSCO, Google Scholar, OVID, and Web of Science. Studies published in English between 2017 and 2022 were screened against predefined inclusion criteria. Thirty-three peer-reviewed articles were selected and subjected to contextual and thematic analysis. This qualitative approach allowed synthesis of recurring themes and insights into the influence of EI on nursing leadership and practice. Results: Emotional intelligence significantly impacts nursing leadership by improving patient outcomes, fostering teamwork, enhancing communication, and supporting quality care. Nurses with high EI nurses exhibit empathy, resilience, and positivity, contributing to stronger team dynamics, reduced turnover, and increased cohesion. Leaders with elevated EI levels earn trust, build respectful relationships, and inspire commitment. Moreover, EI reduces burnout, enhances job satisfaction, and ensures consistent quality control in nursing management. Conclusion: Emotional intelligence is fundamental to effective nursing leadership and has a positive impact on staff retention, satisfaction, and quality of care. Incorporating EI training into nursing education and recruitment is vital for sustaining nursing leadership excellence and optimizing healthcare outcomes.
INTRODUCTION: Mechanically ventilated patients have disturbed sleep. AIM OF THE STUDY: To explore whether there is a relationship between successful or unsuccessful weaning of patients and their sleep quality and circadian rhythm. MATERIALS AND METHODS: A scoping review. The search process involved four online databases: CINAHL, MEDLINE, ProQuest, and ScienceDirect. Original studies published between January 2020 and October 2022 were included in the review. RESULTS: Six studies met the inclusion criteria. These studies showed that patients with difficult weaning were more likely to have atypical sleep, shorter REM sleep, and reduced melatonin metabolite excretion. Muscle weakness was an independent factor associated with prolonged weaning from mechanical ventilation and was significantly more frequent in patients with atypical sleep. Heterogeneous patient samples and the methodology of the studies hamper a clear interpretation of the results. CONCLUSIONS: A relationship was found between abnormal sleep patterns, reduced melatonin metabolite (6-sulfa-toxymelatonin) excretion, and unsuccessful weaning. However, the causality is not clear from the existing research.
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.5% genomes), and performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855 female) with previously undiagnosed rare diseases from 6,004 families. We established a collaborative, two-level expert review infrastructure that allowed a genetic diagnosis in 506 (8.4%) families. Of 552 disease-causing variants identified, 464 (84.1%) were single-nucleotide variants or short insertions/deletions. These variants were either located in recently published novel disease genes (n = 67), recently reclassified in ClinVar (n = 187) or reclassified by consensus expert decision within Solve-RD (n = 210). Bespoke bioinformatics analyses identified the remaining 15.9% of causative variants (n = 88). Ad hoc expert review, parallel to the systematic reanalysis, diagnosed 249 (4.1%) additional families for an overall diagnostic yield of 12.6%. The infrastructure and collaborative networks set up by Solve-RD can serve as a blueprint for future further scalable international efforts. The resource is open to the global rare-disease community, allowing phenotype, variant and gene queries, as well as genome-wide discoveries.
- MeSH
- databáze genetické MeSH
- exom genetika MeSH
- genom lidský genetika MeSH
- genomika * metody MeSH
- lidé MeSH
- rodokmen MeSH
- výpočetní biologie metody MeSH
- vzácné nemoci * genetika diagnóza MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Evropa MeSH
BACKGROUND: The Clinical Genome Resource (ClinGen) is an international collaborative effort among scientists and clinicians, diagnostic and research laboratories, and the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as definitive, strong, moderate, and limited on the basis of available scientific and clinical evidence. When the genetic and functional evidence for a gene-disease relationship has conflicting interpretations or contradictory evidence, they can be disputed or refuted. OBJECTIVE: We assessed genes related to primary antibody deficiencies. METHODS: The ClinGen Antibody Deficiencies Gene Curation Expert Panel, using the ClinGen framework, classified genes related to primary antibody deficiency that primarily affect B-cell development and/or function, and that account for the largest proportion of inborn errors of immunity or primary immunodeficiencies. RESULTS: The expert panel curated a total of 65 genes associated with humoral immune defects to validate 74 gene-disease relationships. Of these, 40 were classified as definitive, 1 as strong, 16 as moderate, 15 as limited, and 2 as disputed. The curation process involved reviewing 490 patient records and 3546 associated human phenotype ontology entries. The 3 most frequently observed terms related to primary antibody deficiency were decreased circulating antibody level, pneumonia, and lymphadenopathy. CONCLUSIONS: These curations (publicly available at ClinicalGenome.org) represent the first effort to provide a comprehensive genetic and phenotypic revision of genetic disorders affecting humoral immunity, as reviewed and approved by experts in the field.
Specialized or secondary metabolites are small molecules of biological origin, often showing potent biological activities with applications in agriculture, engineering and medicine. Usually, the biosynthesis of these natural products is governed by sets of co-regulated and physically clustered genes known as biosynthetic gene clusters (BGCs). To share information about BGCs in a standardized and machine-readable way, the Minimum Information about a Biosynthetic Gene cluster (MIBiG) data standard and repository was initiated in 2015. Since its conception, MIBiG has been regularly updated to expand data coverage and remain up to date with innovations in natural product research. Here, we describe MIBiG version 4.0, an extensive update to the data repository and the underlying data standard. In a massive community annotation effort, 267 contributors performed 8304 edits, creating 557 new entries and modifying 590 existing entries, resulting in a new total of 3059 curated entries in MIBiG. Particular attention was paid to ensuring high data quality, with automated data validation using a newly developed custom submission portal prototype, paired with a novel peer-reviewing model. MIBiG 4.0 also takes steps towards a rolling release model and a broader involvement of the scientific community. MIBiG 4.0 is accessible online at https://mibig.secondarymetabolites.org/.
