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10 pages, 9986 KB  
Case Report
Incessant Ventricular Fibrillation in a Patient with a Left Ventricular Assist Device and an Implantable Cardioverter-Defibrillator: A Case Report
by Alwin B. P. Noordman, Michiel Rienstra and Alexander H. Maass
Reports 2026, 9(2), 117; https://doi.org/10.3390/reports9020117 - 10 Apr 2026
Viewed by 222
Abstract
Background and Clinical Significance: Patients with a left ventricular assist device (LVAD) are at risk of ventricular arrhythmias, which are generally hemodynamically tolerated if they occur. In such cases, patients may experience painful implantable cardioverter-defibrillator (ICD) shocks. Case Presentation: A 71-year-old patient with [...] Read more.
Background and Clinical Significance: Patients with a left ventricular assist device (LVAD) are at risk of ventricular arrhythmias, which are generally hemodynamically tolerated if they occur. In such cases, patients may experience painful implantable cardioverter-defibrillator (ICD) shocks. Case Presentation: A 71-year-old patient with a history of dilated cardiomyopathy caused by a phospholamban (PLN) gain-of-function mutation, with a primary prevention ICD and an LVAD, presented with multiple ICD shocks which she experienced as painful and traumatic. She was found to have ongoing ventricular fibrillation with apparent hemodynamic stability. Conversion to sinus rhythm was achieved through intravenous administration of antiarrhythmic drugs followed by external defibrillation using stacked shocks. Due to the traumatic nature of the shocks, the shock function of the ICD was turned off. Nearly two months later, the patient presented for a second time and was again found to have ventricular fibrillation which had been present for at least six weeks. Conversion to sinus rhythm was unsuccessful and the patient was discharged to her home with an advanced care plan and her LVAD was deactivated. The patient died two months later. Conclusions: Patients with an LVAD can remain hemodynamically stable for prolonged periods of time during ventricular arrhythmias. ICD shocks are therefore mostly experienced as painful and even traumatic. Therefore, the routine use of ICD shock therapy in patients with an LVAD should be reconsidered. Adjustment of ICD programming to higher rates and longer detection may be warranted. Further investigation is warranted regarding a switch to devices with an alarm function rather than therapies for tachyarrhythmias. Full article
(This article belongs to the Section Cardiology/Cardiovascular Medicine)
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21 pages, 3309 KB  
Article
A Multi-Channel AM-TMAS Driving System Based on Amplitude-Modulated Sine Waves
by Yiheng Shi, Ze Li, Ruixu Liu, Xiyang Zhang, Mingpeng Wang, Ren Ma, Tao Yin, Xiaoqing Zhou and Zhipeng Liu
Bioengineering 2026, 13(4), 405; https://doi.org/10.3390/bioengineering13040405 - 31 Mar 2026
Viewed by 386
Abstract
Selectively modulating specific brain-rhythm bands with physical stimuli helps both to reveal neural mechanisms and to provide non-pharmacological treatment avenues for brain disorders. This study proposes and implements a multi-channel transcranial magneto-acoustic stimulation driving system based on amplitude-modulated (AM) sine waves (AM-TMAS) intended [...] Read more.
Selectively modulating specific brain-rhythm bands with physical stimuli helps both to reveal neural mechanisms and to provide non-pharmacological treatment avenues for brain disorders. This study proposes and implements a multi-channel transcranial magneto-acoustic stimulation driving system based on amplitude-modulated (AM) sine waves (AM-TMAS) intended to supply a reliable hardware platform for noninvasive, focal low-frequency rhythmic electrical stimulation of deep-brain structures. The driving system implements a 64-channel AM module based on an FPGA plus high-speed DACs. Multi-channel precision is achieved via a unified high-speed clock and a global UPDATE trigger. To overcome the large separation between envelope and carrier frequencies, we developed a high-fidelity AM waveform generation method based on DDS + LUT + envelope multiplication. The algorithm first centers the carrier samples to preserve waveform symmetry, then applies LUT-based envelope coefficients and fixed-point envelope multiplication, enabling high-precision AM outputs with carrier frequencies from 100 kHz to 2 MHz and envelope frequencies from 0.1 Hz to 100 kHz. We tested the system’s rhythmic multi-channel AM output performance across frequencies and also measured magneto-acoustic-coupled rhythmic electrical signals produced by the AM-TMAS driving setup. Any single channel reliably produced high-fidelity AM waveforms with a 500 kHz carrier and 8 Hz/40 Hz envelopes; the measured carrier was 499.998 kHz with excellent frequency stability. Both envelope and carrier frequencies are flexibly tunable. At the nominal 500 kHz carrier, envelope fidelity was further quantified: the extracted envelopes achieved NRMSEs of 1.0795% (8 Hz) and 1.9212% (40 Hz), confirming high-fidelity AM synthesis. Under a 0.3 T static magnetic field, the AM-TMAS driving system generated rhythmic electrical responses in physiological saline that carried the expected 40 Hz envelope. The proposed AM-TMAS driver achieves high accuracy in AM waveform generation and robust multi-channel performance, and—when combined with an external static magnetic field—can produce rhythmically modulated magneto-acoustic electrical stimulation. This platform provides a practical technical tool for brain-function research and the development of rhythm-targeted neuromodulation therapies. Full article
(This article belongs to the Special Issue Basics and Mechanisms of Different Neuromodulation Devices)
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18 pages, 3239 KB  
Article
Mu-Rhythm Phase Modulates Cortical Reactivity to Subthreshold TMS: A TMS–EEG Study
by Yuezhuo Zhao, Panli Chen, Wenshu Mai, Xin Wang, He Wang, Ying Li, Jiankang Wu, Zhipeng Liu, Jingna Jin and Tao Yin
Bioengineering 2026, 13(4), 391; https://doi.org/10.3390/bioengineering13040391 - 27 Mar 2026
Viewed by 427
Abstract
Background: The phase of electroencephalogram (EEG) signals critically influences cortical reactivity to external inputs. Phase-dependent effects and their sensitivity to stimulation intensity have been observed at suprathreshold levels, while subthreshold transcranial magnetic stimulation (TMS) cannot induce motor evoked potentials (MEPs), resulting in limited [...] Read more.
Background: The phase of electroencephalogram (EEG) signals critically influences cortical reactivity to external inputs. Phase-dependent effects and their sensitivity to stimulation intensity have been observed at suprathreshold levels, while subthreshold transcranial magnetic stimulation (TMS) cannot induce motor evoked potentials (MEPs), resulting in limited research on phase-dependent responses under subthreshold stimulation. In this study, we used a combined transcranial magnetic stimulation and electroencephalography (TMS–EEG) approach to examine how the ongoing EEG phase influences cortical responses at subthreshold intensity and to characterize these responses in terms of temporal, spatial, and spectral features. Methods: Thirty-four healthy adults received subthreshold single-pulse TMS at the motor hotspot during 64-channel EEG recording. The mu-phase at the time of TMS delivery was estimated using autoregression-based forward prediction and categorized into four bins (0°, 90°, 180°, and 270°). The cortical responses were assessed using inter-trial phase coherence (ITPC), TMS-evoked potentials (TEPs), global mean field power (GMFP), and event-related spectral perturbation (ERSP). Results: Phase estimation reliably distinguished four mu-phase bins. Subthreshold TMS–EEG responses showed clear phase dependence: early ITPC and several TEP components (N15, P30, N45, P60, and N100) differed significantly across phases, with 180° and 270° often eliciting stronger responses. GMFP revealed robust phase effects at mid-latency components, and TMS-induced mu-rhythms were the greatest at 180°. Conclusions: Our results showed that the EEG phase significantly modulates cortical reactivity at subthreshold stimulation levels, supporting mu-phase-based closed-loop TMS as a promising strategy for precise neuromodulation. Full article
(This article belongs to the Special Issue Recent Advances in Brain Stimulation Technology)
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24 pages, 1391 KB  
Article
Cross-Lead Attention Transformers with GAN Oversampling for Robust ECG Arrhythmia Detection
by Ahmed Tibermacine, Imad Eddine Tibermacine, M’hamed Mancer, Ilyes Naidji, Lahcene Mamen, Abdelaziz Rabehi and Mustapha Habib
Electronics 2026, 15(6), 1258; https://doi.org/10.3390/electronics15061258 - 17 Mar 2026
Viewed by 371
Abstract
Accurate detection of cardiac arrhythmias from electrocardiograms remains challenging for rare rhythm classes due to class imbalance and morphological variability. We present a hybrid deep learning framework combining per-lead convolutional encoders with a cross-lead transformer that models relationships across different lead signals through [...] Read more.
Accurate detection of cardiac arrhythmias from electrocardiograms remains challenging for rare rhythm classes due to class imbalance and morphological variability. We present a hybrid deep learning framework combining per-lead convolutional encoders with a cross-lead transformer that models relationships across different lead signals through self-attention, accepting variable lead configurations. To address minority-class scarcity, a generative adversarial network synthesizes physiologically plausible beat segments for underrepresented arrhythmias. Attention-based visualizations localize influential waveform regions aligned with clinically meaningful structures. Post-training pruning and INT8 quantization enable efficient deployment with minimal performance loss. Extensive experiments on the MIT-BIH Arrhythmia Database across sixteen heartbeat classes from two-lead recordings yield exceptional results over ten independent runs: accuracy of 99.67%, F1-score of 99.66%, and AUC of 99.8%. External validation on the ECG5000 single-lead dataset and the St Petersburg INCART twelve-lead dataset confirms robust generalizability with F1-scores of 97.6% and 98% respectively. Our framework delivers accurate, interpretable, stable, and deployable arrhythmia detection across diverse clinical settings. Full article
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11 pages, 1500 KB  
Article
Circadian Rhythms and External Load Measures in Professional Soccer Players
by Nikolaos E. Koundourakis, Minas-Panagiotis Ispirlidis, Adam L. Owen, Nikolaos Androulakis, Giorgos Pafis and Michalis Mitrotasios
Appl. Sci. 2026, 16(6), 2742; https://doi.org/10.3390/app16062742 - 13 Mar 2026
Viewed by 526
Abstract
The aim of the present study was to examine the potential effects of circadian rhythmicity on specific external load metrics in professional male soccer players. Twenty players, members of a Greek Super League team, participated in the study. Data were collected from twenty [...] Read more.
The aim of the present study was to examine the potential effects of circadian rhythmicity on specific external load metrics in professional male soccer players. Twenty players, members of a Greek Super League team, participated in the study. Data were collected from twenty match-day-minus-one (MD-1) training sessions, performed either in the morning (10:30 h, n = 10) or afternoon (15:00 h, n = 10). All sessions followed identical structure, volume, and intensity, ensuring internal validity. The external load metrics examined were total distance (TD), high-speed running (HSR; >19.8 km/h), high-intensity-acceleration count (HIACC; >3 m/s2), high-intensity-deceleration count (HIDEC; <−3 m/s2), and sprint distance (SD; >25.2 km/h). Statistical analysis was conducted using paired t-tests with Bonferroni correction for multiple comparisons (α = 0.01). Our results revealed significantly higher TD, HSR, HIACC, and HIDEC values (p < 0.01) during morning sessions compared to afternoon, suggesting a diurnal pattern favoring morning performance. No significant difference was found for SD (p > 0.01) despite the observed tendency for higher morning-values. These findings support the notion that time of day influences training output and that habitual morning training may lead to improved physical performance due to training-induced adaptations. Since in elite soccer even minor changes in performance could be decisive for the outcome of a competition, accounting for circadian factors in training planning could be crucial for competition performance. Full article
(This article belongs to the Special Issue Innovative Technologies for and Approaches to Sports Performance)
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18 pages, 1322 KB  
Article
Knowledge, Attitudes and Perceived Preparedness Regarding Cardiopulmonary Resuscitation and Automated External Defibrillator Use Among Health-Related University Students: A Cross-Sectional Study
by Caterina Mercuri, Giovanni Marasco, Alessandra De Pasquale, Dario Marasciulo, Silvio Simeone and Adele Sarcone
Healthcare 2026, 14(6), 730; https://doi.org/10.3390/healthcare14060730 - 12 Mar 2026
Viewed by 480
Abstract
Background: Early cardiopulmonary resuscitation (CPR) and timely use of automated external defibrillators (AEDs) are critical determinants of survival following out-of-hospital cardiac arrest (OHCA). University students enrolled in healthcare degree programs represent a strategic target population for the dissemination of basic life support and [...] Read more.
Background: Early cardiopulmonary resuscitation (CPR) and timely use of automated external defibrillators (AEDs) are critical determinants of survival following out-of-hospital cardiac arrest (OHCA). University students enrolled in healthcare degree programs represent a strategic target population for the dissemination of basic life support and defibrillation (BLS-D) skills. However, evidence on their level of knowledge, attitudes, and perceived preparedness remains limited in Southern Italy. Methods: A cross-sectional observational study was conducted between mid-December 2025 and 15 January 2026 among undergraduate healthcare students at the Magna Graecia University of Catanzaro (Italy). Data were collected using a structured, self-administered questionnaire assessing socio-demographic characteristics, CPR/AED knowledge, attitudes, and perceived confidence. Composite knowledge scores were calculated and categorized as poor, sufficient, good, or excellent. Statistical analyses included chi-square tests, Cramér’s V, and Spearman’s rank correlation. Results: A total of 604 students were included (mean age 24.4 ± 6.7 years; 69.9% female), of whom 46.4% reported prior BLS-D training. Knowledge levels were heterogeneous: myocardial infarction was widely recognized as a cause of cardiac arrest (81.1%), whereas recognition of non-shockable rhythms, including asystole and pulseless electrical activity, remained low (<25%). Procedural knowledge, particularly regarding the chain of survival and chest compression rate, improved with academic year and prior BLS-D training. Conversely, ventilation skills and correct AED pad placement were consistently inadequate. Attitudes toward CPR were largely positive; however, perceived confidence in performing resuscitation was moderate to low, especially in complex scenarios. More than 80% of students expressed strong interest in further training and supported mandatory BLS-D education. Conclusions: Healthcare students demonstrated favorable attitudes toward CPR but insufficient and uneven knowledge, particularly in rhythm recognition, ventilation, and AED use. Academic progression and structured BLS-D training were associated with improved competencies, although critical gaps persisted. Integrating mandatory, hands-on BLS-D training with regular refresher sessions into healthcare curricula should enhance preparedness and potentially reduce OHCA-related mortality, especially in high-risk regions such as Calabria. Full article
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18 pages, 310 KB  
Review
Out-of-Hospital Cardiac Arrest: Public-Access Defibrillation and System Approaches to Minimize Avoidable Delay
by Gianluca Pagnoni, Maria Giulia Bolognesi, Serena Bricoli, Luca Rossi, Allegra Arata and Daniela Aschieri
J. Clin. Med. 2026, 15(6), 2141; https://doi.org/10.3390/jcm15062141 - 11 Mar 2026
Viewed by 556
Abstract
Out-of-hospital cardiac arrest (OHCA) remains a leading cause of sudden death worldwide, with wide variation in reported incidence and outcomes driven by heterogeneity in registries, emergency medical services (EMS) organization, and case definitions. Despite substantial advances in resuscitation systems, survival after EMS-treated OHCA [...] Read more.
Out-of-hospital cardiac arrest (OHCA) remains a leading cause of sudden death worldwide, with wide variation in reported incidence and outcomes driven by heterogeneity in registries, emergency medical services (EMS) organization, and case definitions. Despite substantial advances in resuscitation systems, survival after EMS-treated OHCA generally remains below 10%, and outcomes are critically time dependent. Delays in emergency call activation, bystander cardiopulmonary resuscitation (CPR), and—most importantly—early defibrillation are associated with a rapid decline in return of spontaneous circulation and favorable neurological recovery. This narrative review synthesizes current evidence and implementation strategies aimed at reducing “time-to-CPR” and “time-to-shock,” with a specific focus on public-access defibrillation (PAD) as a tool to mitigate avoidable delay. Randomized trials and large registry studies consistently demonstrate that automated external defibrillator (AED) use before EMS arrival is a key determinant of survival in patients with shockable rhythms. However, the real-world effectiveness of PAD remains limited by suboptimal AED placement, restricted 24/7 accessibility, low public awareness, and underutilization driven by fear and lack of confidence. We compare different PAD delivery models—including EMS-based, police and first-responder-based, and fully integrated community systems—and summarize evidence supporting targeted, high-yield AED deployment and cost-effectiveness. In addition, we review emerging strategies to reduce avoidable delay and strengthen the early links of the chain of survival, such as school-based training programs, smartphone- and SMS-based citizen-responder networks, improved dispatch recognition of cardiac arrest (including artificial intelligence–supported tools), and drone-enabled AED delivery. Across these approaches, patient benefit critically depends on system integration, alert performance, and true AED accessibility. Finally, we describe the Italian “Progetto Vita” experience as a community-integrated model explicitly designed to minimize avoidable delay through widespread AED deployment, lay responder training, and real-time integration with EMS. We conclude by outlining future priorities, including the development of robust national OHCA registries and scalable solutions for the high burden of cardiac arrests occurring at home, such as population-level deployment of low-cost, ultra-portable AEDs. Full article
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15 pages, 615 KB  
Article
Influence of Circadian Rhythm on the Surgical Stress Response in Bitches Undergoing Elective Ovariohysterectomy
by Pauline Silva dos Santos, Luísa Pereira Zacchi, Maria Helena Moreno, Márcio Oleszczyszyn, Heloísa Vieira Cordeiro, Lincoln Gonçalves Marcilio, Dalila Moter Benvegnú, Felipe Beijamini, Camila Dalmolin, Tatiana Champion, Gentil Ferreira Gonçalves and Fabíola Dalmolin
Animals 2026, 16(5), 795; https://doi.org/10.3390/ani16050795 - 4 Mar 2026
Viewed by 329
Abstract
Circadian rhythm regulates several physiological functions, and influences endocrine and metabolic responses in mammals, with cortisol acting as important modulator of this mechanism. Cortisol secretion is affected by both internal and external factors and is intensified under stress conditions. The response to surgical [...] Read more.
Circadian rhythm regulates several physiological functions, and influences endocrine and metabolic responses in mammals, with cortisol acting as important modulator of this mechanism. Cortisol secretion is affected by both internal and external factors and is intensified under stress conditions. The response to surgical stress is consistently observed after surgical procedures, such as ovariohysterectomy (OVH). Therefore, this study aimed to evaluate the influence of the circadian rhythm on the surgical stress response following elective OVH in healthy bitches. Twenty patients weighing between 10 and 20 kg were hospitalized 48 h before surgery and remained hospitalized for 48 h postoperative. The animals were randomly allocated into two groups and underwent OVH either in the morning (6–8 h—a.m., GAM) or at night (18–20 h—p.m., GPM). Surgical procedures were standardized with respect to the surgical team, technique applied and duration; this was carried out in order to induce a comparable level of surgical stress. Physical parameters (systolic blood pressure, heart rate, respiratory rate and rectal temperature) and laboratorial analyses (cortisol, leukogram, protein thiols, no protein thiols, vitamin C, ferric reducing ability of plasma and thiobarbituric acid reactive substances) were assessed immediately before surgery and at 2, 4, 6, 12, 24 and 48 h, as well as 14 days postoperatively. No significant changes in cortisol profile were detected. However, significant alteration in the respiratory rate, rectal temperature, time to first urine, and lipid peroxidation were observed in the GPM group, suggesting that surgeries performed at night induce greater disturbances in homeostasis than those performed in the morning. Full article
(This article belongs to the Section Animal Reproduction)
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15 pages, 1293 KB  
Article
Inducing and Detecting Hallucination-like Auditory Experiences in Healthy Subjects via Conditioning and Electroencephalogram Analysis: A Proof of Concept
by Gleb Tcheslavski, Lilian Felipe and Kamal Ali
Electronics 2026, 15(5), 931; https://doi.org/10.3390/electronics15050931 - 25 Feb 2026
Viewed by 400
Abstract
Background: Auditory hallucinations (AHs)—perceptions of sound without external stimuli—are common in clinical populations but rarely investigated in healthy individuals. This study aimed to employ Pavlovian conditioning to induce AH-like experiences in healthy subjects and to examine their neural correlations using electroencephalography (EEG). Methods: [...] Read more.
Background: Auditory hallucinations (AHs)—perceptions of sound without external stimuli—are common in clinical populations but rarely investigated in healthy individuals. This study aimed to employ Pavlovian conditioning to induce AH-like experiences in healthy subjects and to examine their neural correlations using electroencephalography (EEG). Methods: Seven healthy volunteers were exposed to auditory, non-auditory, and conditioned non-auditory stimuli while recording their EEG with a 32-channel system. Results: When comparing “sound” (auditory) and “conditioned no sound” (conditioned non-auditory) scenarios, the differences in average EEG power were much less pronounced compared to regular sound/no sound scenario. However, significant alterations (p = 0.05) in β and γ rhythms were observed in bilateral temporal regions when comparing the “no sound” and “conditioned no sound” scenario, resembling the spectral patterns observed during real sound perception. These EEG alterations indicate successful induction of hallucination-like auditory experiences through Pavlovian conditioning. A three-class k-nearest neighbor (kNN) classifier detected AH-like events with >80% accuracy in six out of seven participants. Conclusions: Pavlovian conditioning can induce AH-like perceptions in healthy individuals, accompanied by measurable EEG alterations. Therefore, EEG-based methods have the potential for objective detection and assessment of auditory hallucinations and offer a foundation for future research on their neural mechanisms. Full article
(This article belongs to the Section Bioelectronics)
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13 pages, 1145 KB  
Article
Left Atrial Strain as a Marker of Supraventricular Arrhythmia Risk in Type 2 Diabetes Mellitus
by Laura-Cătălina Benchea, Larisa Anghel, Vasile Maciuc, Nicoleta Dubei, Răzvan-Liviu Zanfirescu, Gavril-Silviu Bîrgoan, Mircea Ovanez Balasanian, Radu Andy Sascău and Cristian Stătescu
Diseases 2026, 14(2), 64; https://doi.org/10.3390/diseases14020064 - 11 Feb 2026
Viewed by 391
Abstract
Background/Objectives: To determine whether left atrial (LA) strain by speckle-tracking echocardiography can identify supraventricular arrhythmia risk in patients with type 2 diabetes mellitus (T2DM) without overt structural heart disease. Methods: Prospective, single-center observational cohort study including 107 adults: 57 with T2DM and 50 [...] Read more.
Background/Objectives: To determine whether left atrial (LA) strain by speckle-tracking echocardiography can identify supraventricular arrhythmia risk in patients with type 2 diabetes mellitus (T2DM) without overt structural heart disease. Methods: Prospective, single-center observational cohort study including 107 adults: 57 with T2DM and 50 age-matched controls. Participants underwent clinical assessment and echocardiography at baseline and 12 months. LA reservoir, conduit, and contractile strain (LASr, LAScd, LASct) were measured; left atrial volume indexed (LAVI) and LA stiffness index (LASI) were calculated. The primary endpoint was clinically significant supraventricular arrhythmia at 12 months on 24 h Holter (atrial fibrillation (AF)/atrial flutter (AFL) ≥ 30 s and/or excessive supraventricular ectopy). Predictors were assessed using penalized logistic regression and discrimination by ROC analysis. Results: At baseline and 12 months, T2DM showed impaired LA mechanics versus controls (baseline: LASr 20.1 ± 5.7 vs. 25.8 ± 6.3%, LAScd −11.6 ± 4.2 vs. −15.6 ± 4.9%, LASct −9.9 ± 3.2 vs. −13.1 ± 3.7%; all p < 0.001) and higher LASI (0.4 ± 0.2 vs. 0.3 ± 0.1, p < 0.001). LAVI was higher in T2DM at 12 months (34.0 ± 7.0 vs. 29.9 ± 6.5 mL/m2, p = 0.003). Supraventricular arrhythmias occurred in 20/57 patients (35.1%) of the T2DM vs. 1/50 patients (2.0%) of the control group (p < 0.001). Arrhythmias were assessed by 24 h Holter monitoring at the 12-month follow-up. In T2DM, LAScd provided the best single-parameter discrimination (AUC 0.692), with an optimal cut-off around −8% (sensitivity 55.6%, specificity 81.8%); a LAScd+left ventricular ejection fraction (LVEF) model improved AUC to 0.772. Conclusions: In this prospective observational cohort, T2DM was associated with subclinical LA dysfunction and a higher burden of supraventricular arrhythmias. LAScd emerged as the most clinically informative LA deformation marker for arrhythmic risk stratification and may support targeted rhythm surveillance in diabetic patients. These findings require external validation in larger, independent multicenter cohorts. Full article
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32 pages, 2327 KB  
Review
Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader–Willi and Angelman Syndromes: A Review
by Merlin G. Butler
Int. J. Mol. Sci. 2026, 27(3), 1270; https://doi.org/10.3390/ijms27031270 - 27 Jan 2026
Viewed by 943
Abstract
Prader–Willi (PWS) and Angelman (AS) syndromes were the first examples in humans with errors in genomic imprinting, usually from de novo 15q11-q13 deletions of different parent origin (paternal in PWS and maternal in AS). Dozens of genes and transcripts are found in the [...] Read more.
Prader–Willi (PWS) and Angelman (AS) syndromes were the first examples in humans with errors in genomic imprinting, usually from de novo 15q11-q13 deletions of different parent origin (paternal in PWS and maternal in AS). Dozens of genes and transcripts are found in the 15q11-q13 region, and may play a role in PWS, specifically paternally expressed SNURF-SNRPN and MAGEL2 genes, while AS is due to the maternally expressed UBE3A gene. These three causative genes, including their encoding proteins, were targeted. This review article summarizes and illustrates the current understanding and cause of both PWS and AS using strategies to include the literature sources of key words and searchable web-based programs with databases for integrated gene and protein interactions, biological processes, and molecular mechanisms available for the two imprinting disorders. The SNURF-SNRPN gene is key in developing complex spliceosomal snRNP assemblies required for mRNA processing, cellular events, splicing, and binding required for detailed protein production and variation, neurodevelopment, immunodeficiency, and cell migration. The MAGEL2 gene is involved with the regulation of retrograde transport and promotion of endosomal assembly, oxytocin and reproduction, as well as circadian rhythm, transcriptional activity control, and appetite. The UBE3A gene encodes a key enzyme for the ubiquitin protein degradation system, apoptosis, tumor suppression, cell adhesion, and targeting proteins for degradation, autophagy, signaling pathways, and circadian rhythm. PWS is characterized early with infantile hypotonia, a poor suck, and failure to thrive with hypogenitalism/hypogonadism. Later, growth and other hormone deficiencies, developmental delays, and behavioral problems are noted with hyperphagia and morbid obesity, if not externally controlled. AS is characterized by seizures, lack of speech, severe learning disabilities, inappropriate laughter, and ataxia. This review captures the clinical presentation, natural history, causes with genetics, mechanisms, and description of established laboratory testing for genetic confirmation of each disorder. Three separate searchable web-based programs and databases that included information from the updated literature and other sources were used to identify and examine integrated genetic findings with predicted gene and protein interactions, molecular mechanisms and functions, biological processes, pathways, and gene-disease associations for candidate or causative genes per disorder. The natural history, review of pathophysiology, clinical presentation, genetics, and genetic-phenotypic findings were described along with computational biology, molecular mechanisms, genetic testing approaches, and status for each disorder, management and treatment options, clinical trial experiences, and future strategies. Conclusions and limitations were discussed to improve understanding, clinical care, genetics, diagnostic protocols, therapeutic agents, and genetic counseling for those with these genomic imprinting disorders. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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15 pages, 552 KB  
Review
Sleep, Emotion, and Sex-Specific Developmental Trajectories in Childhood and Adolescence
by Giuseppe Marano and Marianna Mazza
Children 2026, 13(2), 171; https://doi.org/10.3390/children13020171 - 26 Jan 2026
Cited by 1 | Viewed by 882
Abstract
Sleep plays a central role in shaping emotional development during childhood and adolescence, yet increasing evidence indicates that these processes unfold differently in boys and girls. This narrative review synthesizes current findings on sex-specific associations between sleep patterns, neurodevelopmental trajectories, and emotional regulation [...] Read more.
Sleep plays a central role in shaping emotional development during childhood and adolescence, yet increasing evidence indicates that these processes unfold differently in boys and girls. This narrative review synthesizes current findings on sex-specific associations between sleep patterns, neurodevelopmental trajectories, and emotional regulation across pediatric populations. It examines how biological factors, including pubertal timing, sex hormones, circadian physiology, and maturation of fronto-limbic circuits, interact with environmental influences to generate distinct vulnerabilities to anxiety, depression, and behavioral dysregulation. Growing data suggest that girls exhibit greater sensitivity to sleep disturbances, particularly during the pubertal transition, with stronger links to internalizing symptoms such as anxiety and mood disorders. In contrast, boys appear more prone to externalizing behaviors and show differential responses to circadian misalignment and short sleep duration. Emerging evidence on sex-specific sleep architecture, REM-related emotional processing, and the bidirectional pathways through which sleep quality affects affective functioning are explored. Finally, clinical implications for early detection, personalized prevention, and targeted interventions tailored by sex and developmental stage are discussed. Understanding sex-based differences in sleep–emotion interactions offers a critical opportunity to refine pediatric mental health strategies and improve outcomes across developmental trajectories. Full article
(This article belongs to the Special Issue Advances in Mental Health and Well-Being in Children (Third Edition))
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22 pages, 432 KB  
Review
Sensory Deprivation and the Brain: Neurobiological Mechanisms, Psychological Effects, and Clinical Implications
by Donatella Marazziti, Gerardo Russomanno, Matteo Gambini, Francesca Rita Digiuseppe, Enrico Fazio and Riccardo Gurrieri
Brain Sci. 2026, 16(2), 122; https://doi.org/10.3390/brainsci16020122 - 23 Jan 2026
Viewed by 2272
Abstract
Background/Objectives: Sensory deprivation, defined as a reduction or absence of external sensory input across one or more modalities, has long been investigated in extreme and experimental settings. More recently, its relevance has expanded to clinical contexts and environmental conditions. The present narrative review [...] Read more.
Background/Objectives: Sensory deprivation, defined as a reduction or absence of external sensory input across one or more modalities, has long been investigated in extreme and experimental settings. More recently, its relevance has expanded to clinical contexts and environmental conditions. The present narrative review aims to synthesize current evidence on the neurobiological mechanisms, psychological effects, and clinical implications of sensory deprivation, with particular attention to its dual role as both a risk factor and, under controlled conditions, a potential therapeutic tool. Methods: A narrative literature search was conducted using PubMed, Scopus, and PsycINFO, covering studies published up to August 2025. Search terms included sensory deprivation, neuroplasticity, neurotransmitters, HPA axis, neuro-inflammation, circadian rhythms, psychopathology, extreme environments, and spaceflight. Preclinical and clinical studies examining biological, cognitive, and psychological consequences of reduced sensory stimulation were included. Data were synthesized thematically without quantitative meta-analysis. Results: Evidence indicates that sensory deprivation induces widespread neurobiological adaptations involving neurotransmitter systems (particularly dopaminergic pathways), dysregulation of the hypothalamic–pituitary–adrenal axis, neuroimmune activation, circadian rhythm disruption, and structural and functional brain changes, notably affecting the hippocampus. These alterations are associated with increased vulnerability to depression, anxiety, hallucinations, dissociative symptoms, and cognitive impairment. Duration, voluntariness, and individual differences (e.g., baseline vulnerability/resilience, trait anxiety, and prior psychiatric history) critically modulate outcomes. However, short-term and voluntary sensory restriction, such as Floatation-REST, may promote relaxation and emotional regulation under specific conditions. Conclusions: Sensory deprivation exerts complex, context-dependent effects on brain function and mental health. Duration, individual vulnerability, and voluntariness critically modulate outcomes. Understanding these mechanisms is increasingly relevant for clinical practice and for developing preventive strategies in extreme environments, including future long-duration space missions. Full article
(This article belongs to the Section Sensory and Motor Neuroscience)
15 pages, 950 KB  
Review
A Review of Adaptive Mechanisms in Fish Retinal Structure and Opsins Under Light Environment Regulation
by Zheng Zhang, Fan Fei, Liang Wang, Yunsong Rao, Wenyang Li, Xiaoqiang Gao, Ao Li and Baoliang Liu
Fishes 2026, 11(2), 73; https://doi.org/10.3390/fishes11020073 - 23 Jan 2026
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Abstract
Light, as one of the most crucial environmental factors, plays an essential role in the growth, physiology, and evolutionary survival of fish. To cope with diverse light conditions in aquatic environments, fish adapt through photosensory systems composed of both visual and non-visual pathways. [...] Read more.
Light, as one of the most crucial environmental factors, plays an essential role in the growth, physiology, and evolutionary survival of fish. To cope with diverse light conditions in aquatic environments, fish adapt through photosensory systems composed of both visual and non-visual pathways. The retina is a key component of the visual system of fish, capable of converting external optical signals into neural electrical signals, making it crucial for visual formation. During the process of visual signal transduction, opsins serve as the molecular foundation for vision formation. They can be divided into two major categories: visual opsins and non-visual opsins. Among these, melanopsin, as a member of the non-visual opsin family, acts as a key upstream factor in the circadian phototransduction pathway of fish. In this review, we review the adaptability of fish retinal structures to light reception and introduce in detail the gene diversity and relative expression levels of fish opsins. At the same time, we comprehensively describe the molecular mechanism by which fish adapt to changes in the underwater light environment. We also concluded that melanopsin, as a non-imaging photoreceptor, possesses not only core light-sensing functions but also non-imaging visual functions such as circadian rhythm regulation, body coloration changes, and hormone secretion. This review suggests that future research should not only elucidate the physiological functions of melanopsin in fish but also comprehensively reveal the mechanisms underlying the multi-adaptive nature of fish vision across varying light environments. Through these studies, researchers can have a deeper understanding of the physiological regulation mechanism of fish in complex light environments, and then formulate fish light environment management strategies, optimize aquaculture practices, improve economic returns, and promote the development of related fields. Full article
(This article belongs to the Special Issue Adaptation and Response of Fish to Environmental Changes)
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Systematic Review
Neural Efficiency and Sensorimotor Adaptations in Swimming Athletes: A Systematic Review of Neuroimaging and Cognitive–Behavioral Evidence for Performance and Wellbeing
by Evgenia Gkintoni, Andrew Sortwell and Apostolos Vantarakis
Brain Sci. 2026, 16(1), 116; https://doi.org/10.3390/brainsci16010116 - 22 Jan 2026
Cited by 1 | Viewed by 1078
Abstract
Background/Objectives: Swimming requires precise motor control, sustained attention, and optimal cognitive–motor integration, making it an ideal model for investigating neural efficiency—the phenomenon whereby expert performers achieve optimal outcomes with reduced neural resource expenditure, operationalized as lower activation, sparser connectivity, and enhanced functional integration. [...] Read more.
Background/Objectives: Swimming requires precise motor control, sustained attention, and optimal cognitive–motor integration, making it an ideal model for investigating neural efficiency—the phenomenon whereby expert performers achieve optimal outcomes with reduced neural resource expenditure, operationalized as lower activation, sparser connectivity, and enhanced functional integration. This systematic review examined cognitive performance and neural adaptations in swimming athletes, investigating neuroimaging and behavioral outcomes distinguishing swimmers from non-athletes across performance levels. Methods: Following PRISMA 2020 guidelines, seven databases were searched (1999–2024) for studies examining cognitive/neural outcomes in swimmers using neuroimaging or validated assessments. A total of 24 studies (neuroimaging: n = 9; behavioral: n = 15) met the inclusion criteria. Risk of bias assessment used adapted Cochrane RoB2 and Newcastle–Ottawa Scale criteria. Results: Neuroimaging modalities included EEG (n = 4), fMRI (n = 2), TMS (n = 1), and ERP (n = 2). Key associations identified included the following: (1) Neural Efficiency: elite swimmers showed sparser upper beta connectivity (35% fewer connections, d = 0.76, p = 0.040) and enhanced alpha rhythm intensity (p ≤ 0.01); (2) Cognitive Performance: superior attention, working memory, and executive control correlated with expertise (d = 0.69–1.31), with thalamo-sensorimotor functional connectivity explaining 41% of world ranking variance (r2 = 0.41, p < 0.001); (3) Attention: external focus strategies improved performance in intermediate swimmers but showed inconsistent effects in experts; (4) Mental Fatigue: impaired performance in young adult swimmers (1.2% decrement, d = 0.13) but not master swimmers (p = 0.49); (5) Genetics: COMT Val158Met polymorphism associated with performance differences (p = 0.026). Effect sizes ranged from small to large, with Cohen’s d = 0.13–1.31. Conclusions: Swimming expertise is associated with specific neural and cognitive characteristics, including efficient brain connectivity and enhanced cognitive control. However, cross-sectional designs (88% of studies) and small samples (median n = 36; all studies underpowered) preclude causal inference. The lack of spatially quantitative synthesis and visualization of neuroimaging findings represents a methodological limitation of this review and the field. The findings suggest potential applications for talent identification, training optimization, and mental health promotion through swimming but require longitudinal validation and development of standardized swimmer brain atlases before definitive recommendations. Full article
(This article belongs to the Section Sensory and Motor Neuroscience)
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