Search Results (113)

The expanded newborn screening (NBS) program in the Russian Federation, launched in 2023, includes the detection of severe forms of T- and B-cell immunodeficiencies via TREC/KREC quantification. We report a rare case of a male infant having multiple congenital anomalies and lymphopenia identified through this program. Genetic testing revealed a 25.8 Mb terminal deletion spanning 13q31.2–qter, consistent with 13q deletion syndrome. Initial NBS revealed reduced TREC levels, prompting further evaluation. The patient exhibited a complex phenotype, including central nervous system malformation (alobar holoprosencephaly), severe congenital heart disease, renal hypoplasia, limb and genitourinary anomalies, and facial dysmorphism. Postnatal complications included pneumonia, pleuritis, and chylothorax. Flow cytometry demonstrated mild T- and B-cell lymphopenia. The genomic defect was characterized using long-read third-generation sequencing, enabling precise breakpoint identification and accurate mapping of deleted genes. The deletion was confirmed via subtelomeric FISH analysis. The patient died at 7 months of age due to the progression of underlying congenital anomalies and associated complications. Our findings broaden the clinical characterization of distal 13q deletion syndrome and demonstrate the value of long-read sequencing in structural chromosomal analysis. They further highlight the difficulties of caring for neonates having complex malformations and immune dysfunction. Given the potential for both primary and secondary immune disturbances, comprehensive immunological evaluation should be considered in patients having 13q deletion syndrome to improve diagnostic accuracy and inform appropriate clinical management. Full article

Underwater vessel localization using passive magnetic anomaly sensing is a challenging problem due to the variability in vessel magnetic signatures and operational conditions. Data-based approaches may fail to generalize even to slightly different conditions. Thus, we propose an Attentive Neural Process (ANP) approach, in order to take advantage of its few-shot capabilities to generalize, for robust localization of underwater vessels based on magnetic anomaly measurements. Our ANP models the mapping from multi-sensor magnetic readings to position as a stochastic function: it cross-attends to a variable-size set of context points and fuses these with a global latent code that captures trajectory-level factors. The decoder outputs a Gaussian over coordinates, providing both point estimates and well-calibrated predictive variance. We validate our approach using a comprehensive dataset of magnetic disturbance fields, covering 64 distinct vessel configurations (combinations of varying hull sizes, submersion depths (water-column height over a seabed array), and total numbers of available sensors). Six magnetometer sensors in a fixed circular arrangement record the magnetic field perturbations as a vessel traverses sinusoidal trajectories. We compare the ANP against baseline multilayer perceptron (MLP) models: (1) base MLPs trained separately on each vessel configuration, and (2) a domain-randomized search (DRS) MLP trained on the aggregate of all configurations to evaluate generalization across domains. The results demonstrate that the ANP achieves superior generalization to new vessel conditions, matching the accuracy of configuration-specific MLPs while providing well-calibrated uncertainty quantification. This uncertainty-aware prediction capability is crucial for real-world deployments, as it can inform adaptive sensing and decision-making. Across various in-distribution scenarios, the ANP halves the mean absolute error versus a domain-randomized MLP (0.43 m vs. 0.84 m). The model is even able to generalize to out-of-distribution data, which means that our approach has the potential to facilitate transferability from offline training to real-world conditions. Full article

Background/Objectives: Dyslexia and dysgraphia are common childhood neurodevelopmental disorders characterized by persistent reading and writing difficulties, despite normal intelligence and access to education. While typically described as cognitive–linguistic deficits, emerging research suggests potential links to orofacial dysfunction and emotional regulation issues. This study examines associations between stomatognathic anomalies, emotional dysregulation, and early indicators of dyslexia-dysgraphia risk in preschool children, aiming to strengthen early screening and intervention strategies. Methods: A cross-sectional case–control study included 689 Romanian children aged 5–7 from 11 kindergartens. Screening involved the ACTIV-BURLEA psychometric battery to evaluate language, motor, and cognitive abilities. Clinical assessments targeted dental arch form, occlusal balance, and tongue and lip function. Emotional regulation was evaluated using a standardized child behavior scale. Thirty-two children were identified as at risk for dyslexia-dysgraphia and followed longitudinally, and then compared to matched controls. Statistical analysis employed chi-square tests, Pearson correlations, t-tests, and logistic regression. Results: At follow-up, 74.19% of at-risk children received confirmed diagnoses. Tongue dysfunction (TD) (OR = 4.81, p = 0.06) and emotional dysregulation (ED) (OR = 3.94, p = 0.09) emerged as key risk indicators, though not statistically significant. Tongue dysfunction (TD) correlated with school avoidance (r = 0.76, p < 0.01), while occlusal anomalies (OAs) correlated with emotional distress (ED) (r = 0.64, p < 0.05). Conclusions: The findings suggest that early dyslexia-dysgraphia risk involves orofacial and emotional components. Tongue dysfunction (TD), occlusal disturbances (OA), and emotional dysregulation (ED) may offer important clinical markers. Integrating dental and emotional assessments into preschool screening may improve early identification and enable personalized intervention. Full article

Objective: To compare the effect of different bone augmentation procedures, namely, autogenous bone blocks (ABBs) versus guided bone regeneration (GBR), on patient-reported outcomes (PROMs). Methods: This systematic review was conducted according to the PRISMA guidelines. A MEDLINE, Embase, and Web of Science search was conducted by two independent reviewers in combination with a free-hand search in relevant journals until June 2025. Outcomes were PROMs to enhance our understanding of the evolution of these procedures. Results: The electronic search yielded 6291 articles. After title screening, 67 articles were further analyzed for abstract review, which resulted in 14 articles eligible for full-text reading. Six articles were finally included based on the exclusion and inclusion criteria with a total of 295 patients. The overall study quality was low, since only two RCTs could be included. One study demonstrated a high risk of bias. Different PROMs were examined and compared such as pain, edema, neurosensory disturbance, Patient-Reported Predominant Symptom, OHIP-14, postoperative analgesic usage, willingness to repeat, and likelihood to recommend. Meta-analysis was not achievable due to a lack of direct comparisons and heterogeneity in terms of PROMs. Evaluation points varied between pretreatment and up to nearly 10-years of follow-up. Conclusions: Despite significant heterogeneity and reporting, this systematic review concluded that ABB and GBR are well-tolerated procedures. Trends such as transient postoperative pain and swelling with a minor occurring of neurosensory disturbances were reported in a few studies. Overall, a good perception of postoperative recovery was reported for both treatment modalities. Good quality of life was noted related to GBR procedures. Patient-reported outcomes were only analyzed for patients who completed the entire follow-up period. This may introduce bias, as patients who dropped out and were more likely to experience complications were not represented, potentially resulting in a more favorable portrayal of the outcomes. Further well-conducted prospective studies with a long follow-up are needed for an evidence-based evaluation and comparison of PROMs for these procedures. Full article

With the widespread adoption of mobile reading across diverse scenarios, understanding environmental impacts on attention has become crucial for reading performance optimization. Building upon this premise, the study examined the impacts of different reading environments on attention during mobile reading, utilizing a mixed-methods approach that combined eye-tracking experiments with semi-structured interviews. Thirty-two college students participated in the study. Quantitative attention metrics, including total fixation duration and fixation count, were collected through eye-tracking, while qualitative data regarding perceived environmental influences were obtained through interviews. The results indicated that the impact of different environments on mobile reading attention varies significantly, as this variation is primarily attributable to environmental complexity and individual interest. Environments characterized by multisensory inputs or dynamic disturbances, such as fluctuating noise and visual motion, were found to induce greater attentional dispersion compared to monotonous, low-variation environments. Notably, more complex potential task-like disturbances (e.g., answering calls, conversations) were found to cause the greatest distraction. Moreover, stimuli aligned with an individual’s interests were more likely to divert attention compared to those that did not. These findings contribute methodological insights for optimizing mobile reading experiences across diverse environmental contexts. Full article

Hyperekplexia (OMIM 149400), a sensorimotor syndrome of perinatal clinical relevance, causes newborns to display an energic startle reflex in response to certain trivial stimuli. This condition can be lethal due to apnea episodes. The disease is caused by a blockade of glycinergic neurotransmission. Glycinergic interneurons preserve their identity by the activity of the surface glycine transporter GlyT2, which supplies glycine to presynaptic terminals to maintain glycine content in synaptic vesicles. Loss-of-function mutations in the GlyT2 gene (SLC6A5) cause a presynaptic form of human hyperekplexia. Here, we describe a new GlyT2 variant found in an infantile patient diagnosed with hyperekplexia. A missense mutation in the open reading frame of the GlyT2 gene inherited in homozygosity caused the substitution G449E in a residue highly conserved across the phylogenetic scale. The sequences of the glycine receptor genes GLRA1 and GLRB did not show abnormalities. We expressed the recombinant GlyT2 variant in heterologous cells and analyzed its pathogenic mechanism. The transporter was totally inactive, behaving as a bona fide loss-of-function mutant. Furthermore, the mutation promoted the abnormal insertion of the protein into the membrane, leading to its large incorporation into lipid rafts. However, there was no apparent alteration of wild-type trafficking upon mutant coexpression, as the mutant was prematurely degraded from the endoplasmic reticulum. Rescue with chemical chaperones was not possible for this mutant. Proteomics demonstrated that the expression of the mutant induced the unfolded protein response and interfered with raft-dependent processes. Therefore, the new variant causes a loss of function regarding GlyT2 activity but a gain of function as a cell proteostasis disturber. Full article

The downwelling light sensor (DLS) is the industry-standard solution for generating UAV-based digital orthophoto maps (DOMs). Current mainstream DLS correction methods primarily rely on angle compensation. However, due to the temporal mismatch between the DLS sampling intervals and the exposure times of multispectral cameras, as well as external disturbances such as strong wind gusts and abrupt changes in flight attitude, DLS data often become unreliable, particularly at UAV turning points. Building upon traditional angle compensation methods, this study proposes an improved correction approach—FIM-DC (Fitting and Interpolation Model-based Data Correction)—specifically designed for data collection under clear-sky conditions and stable atmospheric illumination, with the goal of significantly enhancing the accuracy of reflectance retrieval. The method addresses three key issues: (1) field tests conducted in the Qingpu region show that FIM-DC markedly reduces the standard deviation of reflectance at tie points across multiple spectral bands and flight sessions, with the most substantial reduction from 15.07% to 0.58%; (2) it effectively mitigates inconsistencies in reflectance within image mosaics caused by anomalous DLS readings, thereby improving the uniformity of DOMs; and (3) FIM-DC accurately corrects the spectral curves of six land cover types in anomalous images, making them consistent with those from non-anomalous images. In summary, this study demonstrates that integrating FIM-DC into DLS data correction workflows for UAV-based multispectral imagery significantly enhances reflectance calculation accuracy and provides a robust solution for improving image quality under stable illumination conditions. Full article

In space, high-energy particle radiation poses a serious threat to the data stability and reliability of SRAM. Existing radiation-tolerant techniques, such as Triple Modular Redundancy (TMR) and Error Correction Code (ECC), have disadvantages such as large area, high power consumption, and additional delay, making them unsuitable for small satellite systems. To overcome these limitations, this paper proposes a 16-transistor-based radiation-tolerant SRAM cell, WRTU-16T, which applies a read-decoupled structure and a charge-sharing suppression mechanism. The proposed structure effectively isolates the storage node from external disturbances and improves the recovery capability for single-event inversion (SEU) and multiple-node inversion (SEMNU) by reducing charge loss. WRTU-16T shows superior performance in terms of write delay, charge recovery capability (Qc), hold power, and word line write threshold voltage (WWTV) compared to existing radiation-tolerant SRAM designs. The integrated circuit is implemented using a 90 nm CMOS process and has an operating voltage of 1V. Full article

Parkinson’s disease (PD) is a progressive neurodegenerative disorder leading to movement impairment, cognitive decline, and psychiatric symptoms. Key manifestations of PD include bradykinesia (the slowness of movement), changes in voice or speech, and gait disturbances. The quantification of neurological disorders through voice analysis has emerged as a rapidly expanding research domain, offering the potential for non-invasive and large-scale monitoring. This review explores existing research on the application of machine learning (ML) in speech, voice, and language processing for the diagnosis of PD. It comprehensively analyzes current methodologies, highlights key findings and their associated limitations, and proposes strategies to address existing challenges. A systematic review was conducted following PRISMA guidelines. We searched four databases: PubMed, Web of Science, Scopus, and IEEE Xplore. The primary focus was on the diagnosis, detection, or identification of PD through voice, speech, and language characteristics. We included 34 studies that used ML techniques to detect or classify PD based on vocal features. The most used approaches involved free speech and reading-speech tasks. In addition to widely used feature extraction toolkits, several studies implemented custom-built feature sets. Although nearly all studies reported high classification performance, significant limitations were identified, including challenges in comparability and incomplete integration with clinical applications. Emerging trends in this field include the collection of real-world, everyday speech data to facilitate longitudinal tracking and capture participants’ natural behaviors. Another promising direction involves the incorporation of additional modalities alongside voice analysis, which may enhance both analytical performance and clinical applicability. Further research is required to determine optimal methodologies for leveraging speech and voice changes as early biomarkers of PD, thereby enhancing early detection and informing clinical intervention strategies. Full article

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are linked by shared genetic mutations and overlapping clinical features, forming a clinical spectrum. This systematic review and meta-analysis analysed 97 studies, including 3212 patients with key ALS/FTD gene mutations, to identify gene-specific behavioural profiles. Chromosome 9 open reading frame 72 (C9orf72) mutations were strongly associated with psychotic symptoms and aggression, while superoxide dismutase 1 (SOD1) mutations had minimal cognitive effects. Progranulin (PGRN) mutations correlated with apathy and hallucinations, microtubule-associated protein tau (MAPT) mutations with disinhibition, and charged multivesicular body protein 2B (CHMP2B) with social impairments. Fused in sarcoma (FUS) mutations caused early sleep disturbances, TANK-binding kinase 1 (TBK1) led to disinhibition, and presenilin 1 and 2 (PSEN1/2) was linked to severe aggression. Prodromal cognitive changes in PGRN, MAPT, and CHMP2B mutations suggested early disease onset. Despite overlapping symptoms and clinical heterogeneity, understanding gene-specific patterns could inform tailored care strategies to enhance the quality of life for ALS and FTD patients. This study calls for refined guidelines integrating genetic behavioural profiles to improve patient and family support. Full article

The way literature scholars read now has been under scrutiny for over a decade. The same long decade has seen an explosion in experimental literatures that make reading in the literary-critical sense a matter for poets: a poet’s hybrid, whose disturbance of genre is claimed by publishers as the writing’s main attraction. This paper explores the disturbance of literary criticism in the work of contemporary North American poets, Maureen N. McLane and Lisa Robertson. Asking how these poets read now, the paper argues that an exchange of powers between analysis and performance reorients criticism toward a hybrid ‘dramatic’ mode, activist in its sensibilities and committed to a redistribution of agencies by style and form. Far from deepening the divide between creative and academic criticism, these poets model the significance of composition, prosody, and voice for critical writing of all kinds. Full article

Since the beginning of the 21st century, studies on “cultural trauma” have pushed Hebrew Bible exegesis in new directions. Although its initial focus was on the period of the Babylonian exile (6th century BC), after 25 years of research, this novel framework has shown its fruitfulness when reading a range of literature: poetic and prophetic literature, as well as narratives of sexual violence. Trauma studies also engage an inspiring dialogue with other disciplines that are already well established in biblical exegesis, such as feminist scholarship. The aim of this article is twofold: on the one hand, we will introduce the concept of “cultural trauma” and the main features that characterise the narratives responding to cultural trauma. On the other hand, we will present the main contributions of this frame of reference to recent Hebrew Bible research and the concrete contributions to a text as disturbing as the sacrifice of Jephthah’s daughter in Judges 11:29–40. Full article

We provide a summary of the research conducted in our laboratory on the relationship between ocular proprioception, general proprioception, and dyslexia. Dyslexic children show a marked proprioceptive deficit which affects motor control, attention and spatial perception. The spatial disturbances are expressed by the presence of a vertical microheterophoria which has very specific characteristics. It is associated with abnormal tone of the oblique muscles and can be modified by means of very low powered prisms and/or remote sensory stimulation. When ocular proprioception is modified, sounds cause stochastic visual losses. This may interfere with the association between phonemes and graphemes, which is necessary for learning to read. The effects of a generalized nocturnal proprioceptive disorder may play a role in the abnormal brain development that has been observed in dyslexic children. Full article

Background: Monitoring pulse rate is fundamental to cardiovascular health management and early detection of rhythm disturbances. While oscillometric blood pressure measurement is well established and validated in clinical practice, its use for pulse rate monitoring, particularly via wrist-worn devices, remains largely unexplored. Objective: This study investigates whether a smartwatch that performs oscillometric blood pressure measurements at the wrist can also deliver reliable pulse rate readings using the same method. Methods: This study compared pulse rates recorded by the Omron HeartGuide smartwatch and conventional ambulatory blood pressure monitors in 50 patients over 24 h. Measurements were taken consecutively, and data were analyzed using intraclass correlation coefficients (ICCs) and Bland–Altman plots. Results: The study showed a high ICC of 0.971, indicating excellent agreement between devices. The average pulse rate difference was 1.5 bpm, with the Omron HeartGuide reporting slightly lower rates, especially in patients with atrial fibrillation. Conclusions: This study demonstrates that oscillometric pulse-rate monitoring at the wrist can achieve a high degree of accuracy, comparable to conventional upper-arm devices. Given that oscillometric smartwatches like the Omron HeartGuide are already used for blood pressure monitoring, the findings suggest that they may also be suitable for pulse rate measurement, potentially enhancing their role in telemetric healthcare, but further research is needed, particularly in patients with arrhythmias. Full article

Fairy ring fungi are considered keystone species in grasslands due to their strong impact on soil physicochemical properties, but their effect on the associated bacterial community is poorly understood. Here, we analyze shifts in soil bacterial diversity and community composition across fairy rings using Illumina metabarcoding. A total of 254,135 MiSeq reads and between 405 and 1444 operational taxonomic units (OTUs) per soil sample were observed in a montane grassland in the Eastern Pyrenees. We found a strong reduction in all bacterial diversity indices inside the ring-affected zones compared to the outside grassland, especially in the stimulation (current ring) zone. The exception were Firmicutes, the dominant taxa in the grassland, which increased their relative abundance further in fairy ring-affected zones. The recovery of bacterial populations after the fungal front passage highlights the strong resilience of the bacterial communities to this biotic disturbance. Full article