Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to GLA variants. The effects of migalastat were examined in a cohort of 125 Fabry patients with migalastat-amenable GLA variants in the followME Pathfinders registry (EUPAS20599), an ongoing, prospective, patient-focused registry evaluating outcomes for current Fabry disease treatments. We report annualised estimated glomerular filtration rate (eGFR) and Fabry-associated clinical events (FACEs) in a cohort of patients who had received ≥3 years of migalastat treatment in a real-world setting. As of August 2022, 125 patients (60% male) had a mean migalastat exposure of 3.9 years. At enrolment, median age was 58 years (males, 57; females, 60) with a mean eGFR of 83.7 mL/min/1.73 m2 (n = 122; males, 83.7; females, 83.8) and a median left ventricular mass index of 115.1 g/m2 (n = 61; males, 131.2; females, 98.0). Mean (95% confidence interval) eGFR annualised rate of change in the overall cohort (n = 116) was -0.9 (-10.8, 9.9) mL/min/1.73 m2/year with a similar rate of change observed across patients with varying levels of kidney function at enrolment. Despite population age and baseline morbidity, 80% of patients did not experience a FACE during the mean 3.9 years of migalastat exposure. The incidence of renal, cardiac, and cerebrovascular events was 2.0, 83.2, and 4.1 events per 1000 patient-years, respectively. These data support a role of migalastat in preserving renal function and multisystem effectiveness during ≥3 years of migalastat treatment in this real-world Fabry population.

• MeSH
• 1-Deoxynojirimycin * analogs & derivatives   therapeutic use   MeSH
• alpha-Galactosidase * therapeutic use   MeSH
• Adult MeSH
• Fabry Disease * drug therapy   MeSH
• Glomerular Filtration Rate * MeSH
• Kidney physiopathology   drug effects   MeSH
• Middle Aged MeSH
• Humans MeSH
• Prospective Studies MeSH
• Registries * MeSH
• Aged MeSH
• Treatment Outcome MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Promoting healthy aging through physical activity (PA) is crucial as the global population grows older. Traditional interventions often fail to engage older adults, underlining the need for personalized, timely approaches. Smartphone-delivered PA interventions can offer personalized support during opportune moments for behavioral change. The current study examined whether the receptivity of inactive older adults influences compliance with mHealth walking suggestions after inactivity, and explored their experiences with it. Thirty healthy older adults (mean age 73.9 years) participated in the study and answered event-based EMA questionnaires via HealthReact after each 30-minute inactivity period. Emotions, physical complaints, intention, self-efficacy, perceived walking, and environmental permissiveness were assessed. Walking suggestions followed each EMA, and semi-structured interviews were conducted post-study. Multilevel logistic regressions in R were applied, and qualitative data were thematically analyzed using NVivo. Results show that higher intention, self-efficacy, and environmental permissiveness positively correlated with compliance, while higher perceived walking negatively correlated. Participants generally found the suggestions motivating and well-timed, but some reported increased alertness and pressure. Consequently, tailoring interventions to individual needs and targeting receptive moments can enhance compliance and promote healthier aging through increased PA. Future mobile interventions should consider self-efficacy, intention, prior activity, and environmental conditions to improve effectiveness.

• MeSH
• Patient Compliance * psychology   MeSH
• Walking * psychology   MeSH
• Smartphone MeSH
• Exercise psychology   MeSH
• Middle Aged MeSH
• Humans MeSH
• Longitudinal Studies MeSH
• Health Promotion * methods   MeSH
• Self Efficacy MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Telemedicine MeSH
• Intention MeSH
• Healthy Aging * psychology   MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

BACKGROUND: Mobile health (mHealth) is increasingly being used in contemporary health care provision owing to its portability, accessibility, ability to facilitate communication, improved interprofessional collaboration, and benefits for health outcomes. However, there is limited discourse on patient safety in real-world mHealth implementation, especially as care settings extend beyond traditional center-based technology usage to home-based care. OBJECTIVE: This study aimed to explore health care professionals' perspectives on the safety aspects of mHealth integration in real-world service provision, focusing on Hong Kong Special Administrative Region (SAR) and Wuhan city in mainland China. In Hong Kong SAR, real-world mHealth care provision is largely managed by the Hospital Authority, which has released various mobile apps for home-based care, such as Stoma Care, Hip Fracture, and HA Go. In contrast, mHealth care provision in Wuhan is institutionally directed, with individual hospitals or departments using consultation apps, WeChat mini-programs, and the WeChat Official Accounts Platform (a subapp within the WeChat ecosystem). METHODS: A multicenter qualitative study design was used. A total of 27 participants, including 22 nurses and 5 physicians, from 2 different health care systems were interviewed individually. Thematic analysis was used to analyze the data. RESULTS: The mean age of the participants was 32.19 (SD 3.74) years, and the mean working experience was 8.04 (SD 4.05) years. Most participants were female (20/27, 74%). Nearly half of the participants had a bachelor's degree (13/27, 48%), some had a master's degree (9/27, 33%), and few had a diploma degree (3/27, 11%) or a doctoral degree (2/27, 7%). Four themes emerged from the data analysis. Considering the current uncertainties surrounding mHealth implementation, participants emphasized "liability" concerns when discussing patient safety. They emphasized the need for "change management," which includes appropriate referral processes, adequate resources and funding, informed mHealth usage, and efficient working processes. They cautioned about the risks in providing mHealth information without ensuring understanding, appreciated the current regulations available, and identified additional regulations that should be considered to ensure information security. CONCLUSIONS: As health care systems increasingly adopt mHealth solutions globally to enhance both patient care and operational efficiency, it becomes crucial to understand the implications for patient safety in these new care models. Health care professionals recognized the importance of patient safety in making mHealth usage reliable and sustainable. The promotion of mHealth should be accompanied by the standardization of mHealth services with institutional, health care system, and policy-level support. This includes fostering mHealth acceptance among health care professionals to encourage appropriate referrals, accommodate changes, ensure patient comprehension, and proactively identify and address threats to information security.

• MeSH
• Patient Safety * MeSH
• Adult MeSH
• Qualitative Research MeSH
• Humans MeSH
• Mobile Applications MeSH
• Telemedicine * MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH
• Geographicals
• China MeSH
• Hong Kong MeSH

INTRODUCTION: PAdverse Childhood Experiences (ACEs) are associated with an increased risk of mental health issues in general, but their relationship with panic disorder (PD) and obsessive-compulsive disorder (OCD) has received less attention compared to borderline personality disorder (BPD). Dissociative experiences are significant predictors of increased symptoms, reduced treatment adherence, and poor prognosis in several psychiatric conditions, including PD, OCD, and BPD; still, their impact remains underexplored. This part of the study focuses on the overall efficiency of psychotherapeutic programs on treatment-resistant patients diagnosed with PD, OCD, and BPD (or combined), as well as the relationship between ACEs, dissociation rates, and treatment results. METHOD: The study was conducted under standard conditions in an inpatient psychotherapy unit that specialized in anxiety, affective disorders, and personality disorders. Patients were hospitalized for 6 weeks and treated with a comprehensive CBT program and pharmacotherapy. The study included patients diagnosed with PD, OCD, or BPD (or combined). Two independent psychiatrists confirmed the inclusion and exclusion criteria. Patients were assessed using the Beck Anxiety Inventory (BAI), Beck Depression Inventory (BDI-II), Clinical Global Impression Scale - Severity (CGI-S), Dissociative Experience Scale (DES), and Childhood Trauma Questionnaire (CTQ-SF). RESULTS: A total of 349 out of 357 patients completed the study. The average age of patients was 33.33 ± 11.59 years. After the 6 week treatment, there was a statistically significant decrease in mean scores across all assessed scales. Changes in any scale during treatment did not correlate with the total CTQ-SF score or sub-scores. The relative change in CGI-S showed a statistically significant negative correlation with the total dissociation score on the DES scale at the beginning of treatment but not with pathological dissociation assessed by the DES-T questionnaire. Statistically significant decreases in mean CGI-S scores were observed in patients with a single diagnosis of PD, OCD, and BPD. Among comorbid groups, significant changes were observed only in patients with comorbid OCD and BPD. No statistically significant change in mean BDI-II scores was observed in patients with comorbid PD and OCD or comorbid OCD and BPD. CONCLUSIONS: Our analysis showed that treatment led to a significant decrease in the severity of depressive symptoms assessed by BDI-II and anxiety symptoms assessed by BAI in patients with PD, OCD, and BPD. This decrease was not statistically significant in patients with comorbid disorders, suggesting that the presence of multiple diagnoses may affect treatment efficacy. ACEs did not correlate to treatment results, but dissociation rates were linked with poorer treatment outcomes.

• MeSH
• Dissociative Disorders * therapy   psychology   MeSH
• Adult MeSH
• Inpatients MeSH
• Borderline Personality Disorder * therapy   psychology   MeSH
• Cognitive Behavioral Therapy * methods   MeSH
• Combined Modality Therapy MeSH
• Middle Aged MeSH
• Humans MeSH
• Young Adult MeSH
• Obsessive-Compulsive Disorder * therapy   psychology   MeSH
• Panic Disorder * therapy   MeSH
• Treatment Outcome MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Young Adult MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

INTRODUCTION: The reduction of fluoroscopic exposure during catheter ablation of supraventricular arrhythmias is widely adopted by experienced electrophysiology physicians with a relatively short learning curve and is becoming the standard of care in many parts of the world. While observational studies in the United States and some parts of Western Europe have evaluated the minimal fluoroscopic approach, there are scarce real-world data for this technique and the generalizability of outcomes in other economic regions. METHOD: The AALARA study is a prospective, observational, multicenter, and multinational open-label study. Patients were recruited from 13 countries across Central Eastern Europe, North and South Africa, the Middle East, and the CIS (Commonwealth of Independent States), with different levels of operator expertise using minimal fluoroscopic exposure techniques. Data on radiation exposure, procedural success, complications, recurrence, and quality of life changes were collected and analyzed. RESULT: A total of 680 patients were enrolled and followed for 6 months. The majority were ablation naïve with the commonest arrhythmia ablated being typical AVNRT (58%) followed by Atrial Flutter (23%). Zero fluoroscopy exposure was observed in almost 90% of the cases. Fluoroscopy was most commonly used during the ablation phase of the procedure. We observed a high acute success rate (99%), a low complication rate (0.4%), and a 6-month recurrence rate of 3.8%. There was a significant improvement in the patient's symptoms and quality of life as measured by patient global assessment. CONCLUSION: The routine use of a 3D mapping system during right-sided ablation was associated with low radiation exposure and associated with high acute success rate, low complications, and recurrence rate along with significant improvement in quality of life. The data confirm the reproducibility of this approach in real-world settings across different healthcare systems, and operator experience supporting this approach to minimize radiation exposure without compromising efficacy and safety. TRIAL REGISTRATION: NCT04716270.

• MeSH
• Fluoroscopy MeSH
• Catheter Ablation * methods   MeSH
• Quality of Life MeSH
• Middle Aged MeSH
• Humans MeSH
• Prospective Studies MeSH
• Radiation Exposure * MeSH
• Registries MeSH
• Tachycardia, Supraventricular surgery   MeSH
• Imaging, Three-Dimensional MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH
• Observational Study MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Europe MeSH

Východiská: Medikačné chyby sú častejšie hlásené z nemocničného prostredia. Avšak môžeme ich identifikovať aj v zariadeniach sociálnych služieb. Najčastejšie ide o nesprávne riedenie lieku, nesprávne uchovávanie lieku, podanie lieku v nesprávnej dávke a v nesprávnom čase, nesprávnu techniku podania lieku, podanie exspirovaného lieku. Výsledky výskumov dokazujú, že medikačné chyby sú globálnym problém verejného zdravia. Cieľ: identifikovať kritické miesta rizikového správania sa sestier v príprave a podávaní liekov pre os obyvateľom zariadenia sociálnych služieb. Súbor a metódy: Do súboru bolo zaradených 5 sestier s priemernou dĺžkou praxe v povolaní sestra 29,4 rokov. Uskutočnili sme priame pozorovanie v rozsahu piatich pracovných dní. Celkový počet pozorovaní bolo 675. Počet pozorovaných javov bol 9. Použili sme metódu frekvenčnej analýzy pozorovaných javov. Výsledky sme interpretovali ako priemerné relatívne skóre. Výsledky: Z analýzy dát vyplynulo zistenie, že kritickým miestom v príprave a v podávaní liekov per os v zariadení sociálnych služieb je kontrola nežiaducich účinkov liekov, poučenie osoby a kontrola užitia liekov. Najviac medikačných chýb sme zaznamenali v tretí pracovný deň. Záver: Odhalené rizikové správanie sa sestier v príprave a podávaní liekov sú výzvou pre zmeny v procesoch realizovaných v zariadení sociálnych služieb. Prospektívne je potrebné realizovať väčšie multicentrické štúdie

Backround: Medication errors are more commonly reported from the hospital setting. However, they can also be identified in social service settings. The most common are incorrect dilution of the medicine, incorrect storage of the medicine, administration of the medicine in the wrong dose and at the wrong time, incorrect technique of administration of the medicine, administration of exspirated medicine. Research findings show that medication errors are a global public health problem. Objective: Identify critical points of nurses' risky behaviors in the preparation and administration of medications to residents of a social service facility. Participants and methods: Five nurses with an average length of experience in the nursing profession of 29.4 years were included in the cohort. We conducted direct observation over a period of five working days. The total number of observations was 675. The number of observed phenomena was 9. We used the method of frequency analysis of observed phenomena. We interpreted the results as mean relative scores. Results: The data analysis revealed the finding that the critical point in the preparation and administration of per os medications in a social service facility is the control of adverse drug reactions, the instruction of the person, and the control of the use of medications. The highest number of medication errors were observed on the third working day. Conclusion: The revealed risky behaviors of nurses in the preparation and administration of medications are a challenge for changes in the processes implemented in the social services facility. Larger multicentre studies with longer observation periods are prospectively needed

• MeSH
• Medical Errors MeSH
• Medication Errors MeSH
• Nursing Homes MeSH
• Surveys and Questionnaires MeSH
• Social Welfare MeSH

STUDY QUESTION: Which actively translated maternal transcripts are differentially regulated between clinically relevant in vitro and in vivo maturation (IVM) conditions in mouse oocytes and zygotes? SUMMARY ANSWER: Our findings uncovered significant differences in the global transcriptome as well as alterations in the translation of specific transcripts encoding components of energy production, cell cycle regulation, and protein synthesis in oocytes and RNA metabolism in zygotes. WHAT IS KNOWN ALREADY: Properly regulated translation of stored maternal transcripts is a crucial factor for successful development of oocytes and early embryos, particularly due to the transcriptionally silent phase of meiosis. STUDY DESIGN, SIZE, DURATION: This is a basic science study utilizing an ICR mouse model, best suited for studying in vivo maturation. In the treatment group, fully grown germinal vesicle oocytes from stimulated ovaries were in vitro matured to the metaphase II (MII) stage either as denuded without gonadotropins (IVM DO), or as cumulus-oocyte complexes (IVM COC) in the presence of 0.075 IU/ml recombinant FSH (rFSH) and 0.075 IU/ml recombinant hCG (rhCG). To account for changes in developmental competence, IVM COC from non-stimulated ovaries (IVM COC-) were included. In vivo matured MII oocytes (IVO) from stimulated ovaries were used as a control after ovulation triggering with rhCG. To simulate standard IVM conditions, we supplemented media with amino acids, vitamins, and bovine serum albumin. Accordingly, in vitro pronuclear zygotes (IMZ) were generated by IVF from IVM DO, and were compared to in vivo pronuclear zygotes (IVZ). All experiments were performed in quadruplicates with samples collected for both polyribosome fractionation and total transcriptome analysis. Samples were collected over three consecutive months. PARTICIPANTS/MATERIALS, SETTING, METHODS: All ICR mice were bred under legal permission for animal experimentation (no. MZE-24154/2021-18134) obtained from the Ministry of Agriculture of the Czech Republic. Actively translated (polyribosome occupied) maternal transcripts were detected in in vitro and in vivo matured mouse oocytes and zygotes by density gradient ultracentrifugation, followed by RNA isolation and high-throughput RNA sequencing. Bioinformatic analysis was performed and subsequent data validation was done by western blotting, radioactive isotope, and mitotracker dye labelling. MAIN RESULTS AND THE ROLE OF CHANCE: Gene expression analysis of acquired polysome-derived high-throughput RNA sequencing data revealed significant changes (RPKM ≥ 0.2; P ≤ 0.005) in translation between in vitro and in vivo matured oocytes and respectively produced pronuclear zygotes. Surprisingly, the comparison between IVM DO and IVM COC RNA-seq data of both fractionated and total transcriptome showed very few transcripts with more than a 2-fold difference. Data validation by radioactive isotope labelling revealed a decrease in global translation bof20% in IVM DO and COC samples in comparison to IVO samples. Moreover, IVM conditions compromised oocyte energy metabolism, which was demonstrated by both changes in polysome recruitment of each of 13 mt-protein-coding transcripts as well as by validation using mitotracker red staining. LARGE SCALE DATA: The data discussed in this publication have been deposited in NCBI's Gene Expression Omnibus and are accessible through GEO Series accession number GSE241633 (https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE241633). LIMITATIONS, REASONS FOR CAUTION: It is extremely complicated to achieve in vivo consistency in animal model systems such as porcine or bovine. To achieve a high reproducibility of in vivo stimulations, the ICR mouse model was selected. However, careful interpretation of our findings with regard to assisted reproductive techniques has to be made by taking into consideration intra-species differences between the mouse model and humans. Also, the sole effect of the cumulus cells' contribution could not be adequately addressed by comparing IVM COC and IVM DO, because the IVM DO were matured without gonadotropin supplementation. WIDER IMPLICATIONS OF THE FINDINGS: Our findings confirmed the inferiority of standard IVM technology compared with the in vivo approach. It also pointed at compromised biological processes employed in the critical translational regulation of in vitro matured MII oocytes and pronuclear zygotes. By highlighting the importance of proper translational regulation during in vitro oocyte maturation, this study should prompt further clinical investigations in the context of translation. STUDY FUNDING/COMPETING INTEREST(S): This work was supported by the Czech Grant Agency (22-27301S), Charles University Grant Agency (372621), Ministry of Education, Youth and Sports (EXCELLENCE CZ.02.1.01/0.0/0.0/15_003/0000460 OP RDE), and Institutional Research Concept RVO67985904. No competing interest is declared.

• MeSH
• Chorionic Gonadotropin pharmacology   MeSH
• Embryonic Development * physiology   MeSH
• In Vitro Oocyte Maturation Techniques * MeSH
• Cumulus Cells * metabolism   MeSH
• Mice, Inbred ICR * MeSH
• Mice MeSH
• Oocytes * metabolism   MeSH
• Protein Biosynthesis MeSH
• Transcriptome MeSH
• Gene Expression Regulation, Developmental MeSH
• Animals MeSH
• Zygote metabolism   MeSH
• Check Tag
• Mice MeSH
• Female MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH

The increasing global incidence of obesity and type 2 diabetes mellitus (T2D) underscores the urgency of addressing these interconnected health challenges. Obesity enhances genetic and environmental influences on T2D, being not only a primary risk factor but also exacerbating its severity. The complex mechanisms linking obesity and T2D involve adiposity-driven changes in β-cell function, adipose tissue functioning, and multi-organ insulin resistance (IR). Early detection and tailored treatment of T2D and obesity are crucial to mitigate future complications. Moreover, personalized and early intensified therapy considering the presence of comorbidities can delay disease progression and diminish the risk of cardiorenal complications. Employing combination therapies and embracing a disease-modifying strategy are paramount. Clinical trials provide evidence confirming the efficacy and safety of glucagon-like peptide 1 receptor agonists (GLP-1 RAs). Their use is associated with substantial and durable body weight reduction, exceeding 15%, and improved glucose control which further translate into T2D prevention, possible disease remission, and improvement of cardiometabolic risk factors and associated complications. Therefore, on the basis of clinical experience and current evidence, the Eastern and Southern Europe Diabetes and Obesity Expert Group recommends a personalized, polymodal approach (comprising GLP-1 RAs) tailored to individual patient's disease phenotype to optimize diabetes and obesity therapy. We also expect that the increasing availability of dual GLP-1/glucose-dependent insulinotropic polypeptide (GIP) agonists will significantly contribute to the modern management of the cardiometabolic continuum.

• Publication type
• Journal Article MeSH
• Review MeSH

Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a disease-modifying therapy (DMT) are often classified as responders or non-responders based on the attainment of a specific improvement threshold on validated functional scales. This categorization may significantly impact treatment reimbursement in some countries. The aim of this research is to evaluate the perception of treatments and their benefit by patients considered as responders or non-responders. Methods: In this non-commercial multicenter study, 99 post-symptomatically treated SMA type I-III patients with a median age of 11.2 (0.39-57.4) years at treatment initiation were stratified into three groups based on their treatment outcomes, i.e., those exhibiting clinically significant improvement (N = 41), those with non-clinically significant improvement (N = 18), or those showing no improvement (N = 40). Fifteen months after treatment, the initiation patients or patients' caregivers were assessed using a patient-rated scoring system based on the Patient Global Impression of Change (PGIC) scale, comprising 22 questions targeting important aspects and tasks in the daily life of patients with SMA. Results: We found no statistical difference in the patient perception of treatment benefits in 17 out of 22 domains across patient groups. Conclusions: Our results suggest that functional motor scales do not recapitulate patients' and patients' caregivers' experience of the effect of nusinersen treatment in SMA.

• Publication type
• Journal Article MeSH

Hypomagnetic fields (HMF), or nearly zero magnetic fields, are fields with a value of magnetic flux density lower than the Earth's geomagnetic field. The effects of these so-called weak magnetic fields can manifest in living organisms by influencing biological functions such as the circadian system, calcium balance in cells, DNA methylation, concentration of reactive oxygen species, as well as changes in metabolic and developmental processes. This article describes how HMF affects selected cellular structures through specific exposure parameters, whose selective impact has been verified on the proliferative activity of the yeast strain Saccharomyces cerevisiae. In 25 experiments, the inhibitory effect of a time-varying magnetic field at a level of 0.365 μT was confirmed, which corresponds to the magnitude of magnetic flux density in the vicinity of 100 kV power lines. Global organizations also point out the possible correlation between HMF generated by 50 Hz power lines and various diseases, particularly childhood leukemia.