Cílem sdílení genomických dat je umožnit bezpečný přístup k těmto údajům především za účelem výzkumu, personalizované zdravotní péče a tvorby zdravotních politik. Sdílení dat má potenciál urychlit výzkum a přinést významný pokrok v chápání zdraví a nemocí, avšak naráží na právní a etické problémy spojené s ochranou soukromí a důvěrnosti informací. Kromě mnohdy neintuitivní evropské legislativy vedoucí k různým právním interpretacím, existují v jednotlivých zemích Evropské unie další národní pravidla, která mohou nakládání s genomickými daty dále specifikovat. Tato různorodost komplikuje mezinárodní spolupráci a sdílení dat, a to nejenom v genetice, ale i v jiných oblastech biomedicínského výzkumu. Tato práce analyzuje základní právní rámec a jeho aplikaci umožňující sdílení genomických dat a objasňuje pojmy dalšího zpracování, sekundárního využití a účelu zpracování dat. Dále zdůrazňuje význam souhlasu subjektů údajů a specifických výjimek z obecného zákazu zpracování citlivých dat. Pro efektivní sdílení genomických dat je nezbytné dodržovat evropské a národní právní předpisy, včetně jasného stanovení účelu a právního základu zpracování. Mezinárodní spolupráce vyžaduje harmonizaci právních předpisů a důkladnou správu dat. Tento článek analyzuje základní dynamiku a zákonnost sdílení dat v oblasti genomického výzkumu.
The aim of genomic data sharing is to enable secure access to this data, primarily for research, personalized healthcare and health policy-making. Data sharing has the potential to accelerate research and bring about significant advances in the understanding of health and disease, but it faces legal and ethical issues related to the protection of privacy and confidentiality of information. In addition to the often counterintuitive European legislation leading to different legal interpretations, there are other national rules in individual European Union countries that can further specify the handling of genomic data. This diversity complicates international cooperation and data sharing, not only in genetics but also in other areas of biomedical research. This thesis analyzes the basic legal framework and its application enabling the sharing of genomic data and clarifies the concepts of further processing, secondary use and purpose of data processing. Furthermore, it stresses the importance of data subjects' consent and specific exceptions to the general ban on processing sensitive data. For effective sharing of genomic data, it is essential to comply with European and national legislation, including a clear definition of the purpose and legal basis of processing. International cooperation requires regulatory harmonization and robust data management. This paper analyzes the fundamental dynamics and legality of data sharing in the field of genomic research.
Hypertrophic cardiomyopathy can be accompanied by dynamic obstruction in the left ventricular outflow tract and acute apical ballooning, which are among the very rare causes of cardiogenic shock. This condition requires a specific treatment approach that in many ways differs from the treatment of other causes of cardiogenic shock. We present a case and our treatment strategy (including extracorporeal life support) for refractory cardiogenic shock in a patient with previously undiagnosed hypertrophic cardiomyopathy.
- MeSH
- Echocardiography MeSH
- Electrocardiography MeSH
- Cardiomyopathy, Hypertrophic * complications diagnosis therapy MeSH
- Shock, Cardiogenic * therapy etiology diagnosis MeSH
- Middle Aged MeSH
- Humans MeSH
- Takotsubo Cardiomyopathy complications diagnosis therapy MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
Defekty pánevního dna u žen jsou velmi rozšířeným problémem. Odhaduje se, že až 11 % žen potřebuje řešit nějakou formu prolapsu pánevních orgánů (POP, Pelvic Organ Prolapse). Jen stěží lze předpokládat, že se bude tento statistický údaj výrazněji měnit. Operační postupy stále procházejí zákonitým vývojem. V minulosti prováděné samostatné kolporafie v dnešní době již nejsou aktuální a kolpokleiza je indikována výjimečně. Významný počet neuspokojivých výsledků po klasických operacích byl příčinou hledání nových chirurgických technologií v této oblasti. Prevalence reoperací v zemích, kde probíhají relevantní klinické studie, je vysoká. Olsen a kol. ve své studii uvádí 29,2% výskyt recidiv, Whiteside v prospektivní studii prezentuje dokonce 58 % recidiv po vaginálních operacích pro POP (1, 2). Zavedení síťkových implantátů do operativy pánevních prolapsů znamenalo zásadní zvrat v této problematice. Síťkové implantáty začaly být užívány při operacích pánevních prolapsů po dobrých zkušenostech se síťkami při řešení břišních kýl a také po přelomových zkušenostech při řešení stresové inkontinence (SI) implantacemi tahuprostých suburetrálních pásek. Přinesly do operativy POP jeden zásadní prvek - schopnost přemostit i velké plošné defekty pojivové tkáně vzniklé porodním traumatem nebo pánevní operací. Jejich použití při operaci POP je však daleko náročnější než při operacích břišních kýl, protože POP je specifickou kýlou v dynamicky náročném prostoru. Při těchto operacích zasahujeme do velmi citlivých funkcí, jakými jsou močení, defekace a sexuální funkce. Jejich zavedení do chirurgické praxe lze jednoznačně považovat za pokrok, přesto že klinické výsledky při jejich používání byly někdy rozpačité. Především se objevily zcela nové typy komplikací, s jejichž řešením nebyly žádné zkušenosti. Přes řadu komplikací při zavádění pánevních implantátů vývoj dosáhl takové úrovně, kdy lze dosahovat prakticky anatomických rekonstrukcí pánevního dna s vynikajícími funkčními výsledky. Pánevní implantáty lze zavádět transvaginálně nebo transabdominálně. U transabdominálního přístupu je aktuální miniinvazivní laparoskopická nebo roboticky asistovaná technologie implantace. Kvalitní rekonstrukci pánevního dna bez použití síťkových implantátů v současné době není možné provést.
Pelvic floor disorders in women are a very common issue. It is estimated that up to 11% of women are experiencing some form of pelvic organ prolapse (POP). It can hardly be assumed that this statistic will change significantly. Operating technologies are still evolving. Separate colporrhaphys performed in the past are no longer relevant and colpocleisis are indicated rarely. A high rate of unsatisfactory outcomes following conventional surgeries has driven the search for new surgical technologies in this area. Reoperation rates are notably high in countries where relevant clinical trials are ongoing. Olsen et al. report a 29.2% incidence of recurrences, while Whiteside et al. present even 58% of recurrences after vaginal surgery for POP in a prospective study (1, 2). The introduction of mesh implants into pelvic prolapse surgery meant a significant turning point in the treatment of this condition. Mesh implants began to be used in pelvic prolapse surgeries following successful experience with meshes in the treatment of abdominal hernias and also after groundbreaking experience in dealing with stress incontinence (SI) through tension-free suburethral tape implantation. They brought one essential element to POP operations - the ability to bridge even large surface defects of connective tissue caused by childbirth trauma or previous pelvic surgeries. However, their use in POP surgery is far more demanding than in abdominal hernia surgery, because POP is a specific type of hernia in a dynamically demanding space. These operations interfere with very sensitive functions such as urination, defecation and sexual function. While their introduction into surgical practice can clearly be considered a progress, the clinical results of their use have sometimes been less satisfactory. New types of complications emerged, and there was initially no experience in managing them. Despite these challenges, the development of pelvic implant technology has progressed to the point where it is possible to achieve practically anatomical reconstructions of the pelvic floor with excellent functional results. Pelvic implants can be inserted transvaginally or transabdominally. In the transabdominal approach, minimally invasive laparoscopic or robot-assisted implantation technology is currently available. A high-quality pelvic floor reconstruction is not possible without the use of mesh implants.
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.
Cardiorespiratory signals have long been treated as "noise" in functional magnetic resonance imaging (fMRI) research, with the goal of minimizing their impact to isolate neural activity. However, there is a growing recognition that these signals, once seen as confounding variables, provide valuable insights into brain function and overall health. This shift reflects the dynamic interaction between the cardiovascular, respiratory, and neural systems, which together support brain activity. In this review, we explore the role of cardiorespiratory dynamics-such as heart rate variability (HRV), respiratory sinus arrhythmia (RSA), and changes in blood flow, oxygenation, and carbon dioxide levels-embedded within fMRI signals. These physiological signals reflect critical aspects of neurovascular coupling and are influenced by factors such as physiological stress, breathing patterns, and age-related changes. We also discuss the complexities of distinguishing these signals from neuronal activity in fMRI data, given their significant contribution to signal variability and interactions with cerebrospinal fluid (CSF). Recognizing the influence of these cardiorespiratory dynamics is crucial for improving the interpretation of fMRI data, shedding light on heart-brain and respiratory-brain connections, and enhancing our understanding of circulation, oxygen delivery, and waste elimination within the brain.
An excessive increase in reactive oxygen species (ROS) levels is one of the main causes of mitochondrial dysfunction. However, when ROS levels are maintained in balance with antioxidant mechanisms, ROS fulfill the role of signaling molecules and modulate various physiological processes. Recent advances in mitochondrial bioenergetics research have revealed a significant interplay between mitochondrial peroxiredoxins (PRDXs) and monoamine oxidase-A (MAO-A) in regulating ROS levels. Both proteins are associated with hydrogen peroxide (H2O2), MAO-A as a producer and PRDXs as the primary antioxidant scavengers of H2O2. This review focuses on the currently available knowledge on the function of these proteins and their interaction, highlighting their importance in regulating oxidative damage, apoptosis, and metabolic adaptation in the heart. PRDXs not only scavenge excess H2O2, but also act as regulatory proteins, play an active role in redox signaling, and maintain mitochondrial membrane integrity. Overexpression of MAO-A is associated with increased oxidative damage, leading to mitochondrial dysfunction and subsequent progression of cardiovascular diseases (CVD), including ischemia/reperfusion injury and heart failure. Considering the central role of oxidative damage in the pathogenesis of many CVD, targeting PRDXs activation and MAO-A inhibition may offer new therapeutic strategies aimed at improving cardiac function under conditions of pathological load related to oxidative damage. Keywords: Mitochondria, Peroxiredoxin, Monoamine oxidase-A, Reactive oxygen species, Cardioprotective signaling.
- MeSH
- Humans MeSH
- Monoamine Oxidase * metabolism MeSH
- Oxidative Stress MeSH
- Peroxiredoxins * metabolism MeSH
- Reactive Oxygen Species * metabolism MeSH
- Signal Transduction * MeSH
- Mitochondria, Heart metabolism enzymology MeSH
- Animals MeSH
- Check Tag
- Humans MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
Acquiring pulmonary circulation parameters as a potential marker of cardiopulmonary function is not new. Methods to obtain these parameters have been developed over time, with the latest being first-pass perfusion sequences in cardiovascular magnetic resonance (CMR). Even though more data on these parameters has been recently published, different nomenclature and acquisition methods are used across studies; some works even reported conflicting data. The most commonly used circulation parameters obtained using CMR include pulmonary transit time (PTT) and pulmonary transit beats (PTB). PTT is the time needed for a contrast agent (typically gadolinium-based) to circulate from the right ventricle (RV) to the left ventricle (LV). PTB is the number of cardiac cycles the process takes. Some authors also include corrected heart rate (HR) versions along with standard PTT. Besides other methods, CMR offers an option to assess stress circulation parameters, but data are minimal. This review aims to summarize the up-to-date findings and provide an overview of the latest progress on this promising, dynamically evolving topic.
OBJECTIVE: Face transplantation is a groundbreaking and complex surgical intervention offering profound physical and psychological benefits to patients with severe facial disfigurements. This report provides an update on the long-term psychosocial outcome of eight face transplant recipients. METHOD: All transplant recipients were initially transplanted at Brigham and Women ́s Hospital (Boston, USA) between 2011 and 2020 and seen as outpatient patients at Yale New Haven Hospital (New Haven, USA). A mixed-methods approach was used to assess the psychological and social well-being of these patients. The Short-Form 12, Brief-COPE, EQ-VAS and CES-D were administered between October 2022 and October 2023. RESULTS: Older age of face transplant recipients was significantly and positively associated with better mental health and increased use of both emotional and instrumental support (Brief-COPE). The initial enhancement in patients' self-reported quality of life, as assessed by the EQVAS, declined on the EQ-VAS score at the last follow-up. Similarly, an increase in depression score was observed (CES-D score) up through the last follow-up assessment. Both of the latter results, however, did not reach statistical significance. CONCLUSIONS: These results underscore the importance of ongoing psychological support throughout the long-term journey of recovery for face transplant recipients. These findings emphasize the need for a comprehensive, patient-centered approach that also addresses the complex psychological dimensions and contributes to our understanding of the mental health dynamics involved in face transplantation, stressing the need for guidelines and continued research in this evolving field.
- MeSH
- Depression psychology MeSH
- Adult MeSH
- Quality of Life * psychology MeSH
- Middle Aged MeSH
- Humans MeSH
- Transplant Recipients psychology MeSH
- Aged MeSH
- Social Support MeSH
- Facial Transplantation * psychology MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
The accumulation of senescent cells drives inflammaging and increases morbidity of chronic inflammatory lung diseases. Immune responses are built upon dynamic changes in cell metabolism that supply energy and substrates for cell proliferation, differentiation, and activation. Metabolic changes imposed by environmental stress and inflammation on immune cells and tissue microenvironment are thus chiefly involved in the pathophysiology of allergic and other immune-driven diseases. Altered cell metabolism is also a hallmark of cell senescence, a condition characterized by loss of proliferative activity in cells that remain metabolically active. Accelerated senescence can be triggered by acute or chronic stress and inflammatory responses. In contrast, replicative senescence occurs as part of the physiological aging process and has protective roles in cancer surveillance and wound healing. Importantly, cell senescence can also change or hamper response to diverse therapeutic treatments. Understanding the metabolic pathways of senescence in immune and structural cells is therefore critical to detect, prevent, or revert detrimental aspects of senescence-related immunopathology, by developing specific diagnostics and targeted therapies. In this paper, we review the main changes and metabolic alterations occurring in senescent immune cells (macrophages, B cells, T cells). Subsequently, we present the metabolic footprints described in translational studies in patients with chronic asthma and chronic obstructive pulmonary disease (COPD), and review the ongoing preclinical studies and clinical trials of therapeutic approaches aiming at targeting metabolic pathways to antagonize pathological senescence. Because this is a recently emerging field in allergy and clinical immunology, a better understanding of the metabolic profile of the complex landscape of cell senescence is needed. The progress achieved so far is already providing opportunities for new therapies, as well as for strategies aimed at disease prevention and supporting healthy aging.
- MeSH
- Chronic Disease MeSH
- Pulmonary Disease, Chronic Obstructive metabolism drug therapy immunology MeSH
- Humans MeSH
- Metabolic Networks and Pathways * MeSH
- Lung Diseases etiology drug therapy metabolism immunology MeSH
- Cellular Senescence * drug effects MeSH
- Aging immunology metabolism MeSH
- Inflammation metabolism immunology MeSH
- Animals MeSH
- Check Tag
- Humans MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Review MeSH
The trafficking dynamics of uromodulin (UMOD), the most abundant protein in human urine, play a critical role in the pathogenesis of kidney disease. Monoallelic mutations in the UMOD gene cause autosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD), an incurable genetic disorder that leads to kidney failure. The disease is caused by the intracellular entrapment of mutant UMOD in kidney epithelial cells, but the precise mechanisms mediating disrupted UMOD trafficking remain elusive. Here, we report that transmembrane Emp24 protein transport domain-containing (TMED) cargo receptors TMED2, TMED9, and TMED10 bind UMOD and regulate its trafficking along the secretory pathway. Pharmacological targeting of TMEDs in cells, in human kidney organoids derived from patients with ADTKD-UMOD, and in mutant-UMOD-knockin mice reduced intracellular accumulation of mutant UMOD and restored trafficking and localization of UMOD to the apical plasma membrane. In vivo, the TMED-targeted small molecule also mitigated ER stress and markers of kidney damage and fibrosis. Our work reveals TMED-targeting small molecules as a promising therapeutic strategy for kidney proteinopathies.
- MeSH
- Humans MeSH
- Membrane Glycoproteins metabolism genetics MeSH
- Mutation MeSH
- Mice MeSH
- Protein Transport * MeSH
- Uromodulin * metabolism genetics MeSH
- Animals MeSH
- Check Tag
- Humans MeSH
- Mice MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
