Tag: News Approved

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Autism Screening Proposed for Children with Epilepsy

Children with epilepsy are up to 10 times more likely than others to also have autism, according to research that exposes the scale of the association between the two conditions.

The findings, in more than 30,000 children, stress the importance of screening for developmental concerns among those with epilepsy, so support can be delivered as early as possible.

The study, Developmental Medicine & Child Neurology, revealed that girls with autism spectrum disorder (ASD) were more likely than boys to also have epilepsy.

Higher rates of intellectual disability were also seen in children with autism who additionally had epilepsy, and they were also diagnosed with the neurodiversity at an earlier age.

“Our findings emphasize the importance of screening for autism in this population to support earlier diagnosis and timely intervention, both of which are key to improving long-term outcomes,” said senior investigator Elaine Wirrell, MD, from the Mayo Clinic.

ASD and epilepsy are complex disorders of neuronal connectivity that frequently co-occur because of shared molecular and biological mechanisms.

While the increased risk of ASD in children with epilepsy is well documented, there are gaps in knowledge around its incidence and prevalence, and risk factors for their co-occurrence.

To investigate further, Wirrell and team studied the medical records of 30,490 children in Olmsted County, Minnesota, of whom 257 (0.84%) were diagnosed with epilepsy before the age of 19 years.

They found that children with epilepsy were more likely have ASD across all three research and clinical definitions compared with other children, with this likelihood increased between six and 10-fold.

The prevalence was a corresponding 21.4% versus 3.2% using broad research criteria, 14.0% versus 1.6% across stricter research criteria, and 7.9% versus 0.7% for a clinical diagnosis.

Among children with autism, those also with epilepsy were more likely to have a lower IQ on standardized testing than those in whom epilepsy was absent (56.5% versus 15.4%). Specifically, an IQ of less than 70 was observed in 57.4% of children with co-occurring epilepsy and autism compared with only 15.4% autism alone.

Those with autism and epilepsy were also more often female than those with autism alone (38.2% versus 25.8%), and were identified with autism at a younger age, at a mean of seven years and five months versus eight years and eight months).

“These insights underscore the critical need for comprehensive and early screening protocols to better address and manage the intersection of autism and epilepsy, ensuring timely interventions and tailored support for affected individuals,” the researchers concluded.

 

The post Autism Screening Proposed for Children with Epilepsy appeared first on Inside Precision Medicine.

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Seaport’s IPO adventure, obesity pill battles, and Makary’s troubles

On this week’s episode of “The Readout LOUD,” we chat with Seaport Therapeutics CEO Daphne Zohar, fresh off the biotech’s successful IPO. Plus, Elaine, Allison, and Adam chat about this week’s notable news, including the obesity pill battle between Eli Lilly and Novo Nordisk, a Phase 3 study win for Cytokinetics, and FDA Commissioner Marty Makary’s White House troubles. 

Oh, by the way, this is the 400th episode of your favorite biotech podcast. 

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Science is becoming less disruptive. Is an aging workforce to blame?

Physicist Albert Einstein, widely regarded as one of the most prolific scientists of the past century, conducted much of his transformative work at the beginning of his career, before spending years defending his theories against the burgeoning field of quantum mechanics. 

A new study shows that Einstein is not alone, and that most researchers begin their careers conducting their more disruptive work — overturning conventional wisdom and forging paths of their own — but as they age, they tend to abandon that groundbreaking energy. Instead, many become adept at connecting previously unlinked ideas. The paper, published Thursday in Science, helps offer an explanation of a trend that has increasingly worried scholars of science policy and innovation: that the pace of discovery has slowed in recent years. 

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Case Report: Relief of long-standing severe motion sickness following stellate ganglion block

BackgroundMotion sickness is a common and often debilitating condition arising from sensory conflict within the vestibular–visual–proprioceptive system, with downstream activation of autonomic and emetic pathways. Despite its prevalence in travel, maritime operations, aviation, spaceflight, and virtual environments, effective prophylaxis remains limited by adverse side effects. Experimental and clinical evidence implicates autonomic imbalance and sympathetic nervous system (SNS) hyperactivity in motion sickness susceptibility and symptom severity.Case presentationWe report the incidental resolution of long-standing, severe motion sickness in a 68-year-old man undergoing treatment with stellate ganglion block (SGB) for complex regional pain syndrome (CRPS) of the left upper extremity. The patient had experienced incapacitating motion sickness triggered by air and sea travel for approximately 28 years, substantially limiting occupational and recreational activities. He underwent a series of left-sided SGBs over several months as part of CRPS management. Following several rounds of treatment, he unexpectedly reported complete and sustained remission of motion sickness. Over 12 months of follow-up, he remained symptom-free during repeated boating activities without pharmacologic prophylaxis.DiscussionMotion sickness is associated with increased sympathetic activity, reduced parasympathetic tone during symptom provocation, and hemodynamic changes including reduced cerebral blood flow. The stellate ganglion is a major sympathetic relay to the head, neck, and thorax, and SGB is known to transiently reduce sympathetic outflow and alter cerebral perfusion. Although local anesthetic effects are short-lived, some clinical benefits of SGB appear durable, suggesting longer-term modulation of autonomic reflexes. Genetic and physiological studies further support a role for exaggerated vestibulosympathetic reflex activity in motion sickness susceptibility. Additionally, both the stellate ganglia and the central autonomic network exhibit functional lateralization, and neuroimaging data suggest a left-hemisphere contribution to motion sickness susceptibility, raising the possibility of side-specific effects.ConclusionThis case represents, to our knowledge, the first report of durable remission of chronic motion sickness following SGB. While causality cannot be established from a single observation, the finding supports further systematic investigation of SGB as a non-pharmacologic and potentially durable prophylactic treatment for motion sickness.
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Serum hypocretin, neurofilament heavy chain, and interleukin-1β as combined predictors of sleep disorders following acute ischemic stroke

BackgroundSleep disorders represent a common and impactful complication following acute ischemic stroke (AIS). This study aimed to identify clinical risk factors and evaluate the predictive value of serum hypocretin (Hcrt), neurofilament heavy chain (NfH), and interleukin-1 beta (IL-1β) for post-stroke sleep disorders.MethodsWe conducted a retrospective observational study of 256 patients with AIS. Patients were classified into sleep disorder (n = 161) and non-sleep disorder (n = 95) groups based on their Pittsburgh Sleep Quality Index scores 7 days after stroke onset. Fasting serum levels of Hcrt, NfH, and IL-1β were measured upon admission. We utilized multivariate logistic regression and receiver operating characteristic (ROC) curves to evaluate predictive performance. The combined model was internally validated using 1,000 bootstrap resamples to assess optimism-corrected discriminative performance.ResultsSleep disorders were present in 62.9% of patients. Nine independent risk factors were identified: age ≥ 65 years (OR = 2.059), snoring history (OR = 1.980), prior stroke (OR = 2.036), lower ADL scores (OR = 1.839), higher HAMD (OR = 1.726) and NIHSS scores (OR = 1.677), decreased serum Hcrt (OR = 1.863), elevated NfH (OR = 2.020), and elevated IL-1β (OR = 1.793; all p < 0.05). Individual biomarker AUCs ranged from 0.742 to 0.781, whereas the combined three-biomarker model achieved a significantly superior AUC of 0.874 (sensitivity 88.82%, specificity 71.58%). Bootstrap internal validation yielded a mean optimism-corrected AUC of 0.861 (95% CI: 0.812–0.903), indicating robust model performance with minimal overfitting.ConclusionClinical variables alongside altered levels of Hcrt, NfH, and IL-1β serve as independent predictors of post-stroke sleep disorders. The combined three-biomarker panel, reflecting neuroendocrine dysregulation, axonal injury, and systemic inflammation, demonstrates substantially superior predictive accuracy over individual biomarkers and offers a clinically practical tool for early identification of high-risk patients.
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Amyloid-β clearance: an astrocytic perspective

Alzheimer’s disease (AD) represents a major global public health challenge in the 21st century, recognized as the neurodegenerative disorder with the highest mortality rate and socioeconomic burden. The core pathological feature of AD is an imbalance in Aβ production and clearance, leading to conformational changes and pathological aggregation of Aβ peptides. This imbalance triggers neurodegenerative cascades 20–30 years before clinical symptoms appear. Therapeutic approaches targeting Aβ production, including β-secretase and γ-secretase inhibitors, have thus far shown limited clinical benefit in late-stage trials and have been further constrained by safety and tolerability concerns. As a result, early interventions aimed at enhancing Aβ clearance have attracted increasing attention. While microglia-mediated phagocytosis of Aβ has been extensively studied, the multifaceted roles of astrocytes in this process remain underexplored. This review synthesizes recent findings to elucidate the molecular mechanisms of astrocyte-mediated Aβ clearance, focusing on endocytic uptake and intracellular degradation, maintenance of the blood–brain barrier, and aquaporin-4 (AQP4)-dependent glymphatic drainage. Additionally, this review dissects key regulatory nodes, including the dynamic modulation of Aβ clearance capacity through astrocyte phenotypic transitions and functional decline associated with pathology. These insights offer a theoretical foundation and translational perspective for the development of astrocyte-targeted interventions in early-stage AD.
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Introducing a translationally relevant mouse model of radiosurgery-induced unilateral hearing loss

BackgroundStereotactic radiosurgery (SRS) is widely used to treat vestibular schwannomas but may cause irreversible hearing loss due to cochlear toxicity. The underlying mechanisms are not fully understood, and no effective otoprotective therapies exist. We aimed to establish a mouse model that replicates the clinical pattern of radiation-induced hearing loss.MethodsC57BL/6J mice (n = 31) received 8 Gy (n = 3), 16 Gy (n = 5), 24 Gy (n = 8), or 32 Gy (n = 15) using the Leksell Gamma Knife ICON system. Targeting was based on the built-in cone-beam CT, co-registered with MRI and CT-based mouse atlases, to guide unilateral cochlea targeting. A single isocenter was placed lateral to the right cochlea, with the 80% isodose line traversing its medial edge. Auditory brainstem response (ABR) was measured at baseline and at 1 and 4 weeks post-SRS. A 32 Gy subgroup (n = 7) was evaluated at 16 weeks. Histological analysis of cochleae was performed at 4 weeks in all groups and at 16 weeks in the long-term 32 Gy group.ResultsSRS was well tolerated, and the contralateral cochlea received a very low radiation dose. No ABR shifts were observed at 8 or 16 Gy, with only minimal histological changes. At 32 Gy, ABR threshold shifts at 22.6 and 32 kHz were evident by week 1 and worsened by week 4. Similar but milder effects occurred at 24 Gy. In the 32 Gy long-term subgroup, hearing loss progressed across all frequencies, most severely at high frequencies, alongside a sustained wave I amplitude decline. At 32 Gy, outer hair cells were reduced by 14 and 44% at 32 and 45.2 kHz, respectively, at 4 weeks, and by 38 and 80% at 16 weeks. Ribbon synapses were mildly reduced at 4 weeks and more markedly at 16 weeks in corresponding high-frequency regions. Spiral ganglion neuron density was mildly reduced at the basal and middle turns. All reported changes were statistically significant when compared to the contralateral ear.ConclusionThis new model reproduces key features of SRS-induced cochlear toxicity, including unilateral, dose-dependent, and progressive hearing loss. It thus provides a valuable platform for investigating mechanisms and testing otoprotective strategies.
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PMAT enhances sexual dimorphism of fear behaviors and facilitates female mice’s generalized contextual fear extinction

Enhanced signaling of dopamine and/or serotonin during highly arousing situations can be reduced in part by monoamine transporters, such as plasma membrane monoamine transporter (PMAT, Slc29a4). An absence of selective pharmacological inhibitors means genetically modified mice constitutively deficient in PMAT remain the best tool for studying PMAT’s organism-level functional effects. Fear conditioning is a high arousal process. Generalization of fear is evolutionarily advantageous, whereby information learned from one experience is applied to other new but similar encounters. Pathological fear generalization, in contrast, is a core feature of most anxiety disorders. Given our previous findings indicating PMAT function reduces male mice’s context fear and enhances extinction of female mice’s cued fear, we hypothesized PMAT would similarly reduce generalization (i.e., enhance discrimination) of context and cued fear in male and female mice, respectively. Our context and cued fear conditioning experiments in adult PMAT wildtype (+/+) and heterozygous (+/−) male and female mice partially supported our hypotheses. We discovered PMAT facilitates extinction of contextually generalized fear, plus subsequent extinction of context-specific fear, selectively in females. Moreover, when specific fear cues or contexts were temporally presented before cues or contexts that were similar enough to make generalization possible, PMAT enhanced biological sex differences. Growing evidence reports common PMAT polymorphisms elicit measurable effects when PMAT function is reduced. Thus, we suspect future experiments may reveal positive associations between PMAT polymorphisms and risk for anxiety disorder symptoms, particularly in people assigned female at birth. Inclusion of these genetic variations in pharmacogenomic analyses may prove therapeutically beneficial.
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Identifying clinical features associated with electroconvulsive therapy response in adolescents with major depressive disorder using machine learning

BackgroundElectroconvulsive therapy (ECT) is an effective treatment for adolescent major depressive disorder (MDD), but its efficacy varies. This study utilized machine learning (ML) to identify baseline clinical factors associated with poor ECT response.MethodsWe retrospectively enrolled 503 adolescent MDD patients. A poor response was defined as a <50% reduction on the Hamilton Depression Scale (HAMD-24). The optimal ML algorithm (Random Forest, RF) was selected from nine candidates and then simplified using recursive feature elimination (RFE) and interpreted via Shapley Additive Explanations (SHAP).ResultsA simplified model using two baseline features—the neutrophil-to-platelet ratio (NPR) and pre-treatment HAMD score—achieved an AUC of 0.731 on the testing set, comparable to the full-feature model (AUC: 0.751). SHAP analysis revealed that a lower baseline NPR and a lower pre-treatment HAMD score were associated with a poor response. Furthermore, retrospective statistical comparisons revealed that patients in the poor response group completed significantly fewer ECT sessions than those in the good response group.ConclusionsWe developed a concise explanatory model demonstrating that routine clinical data available at admission (blood NPR and HAMD score) can effectively stratify the risk of poor ECT efficacy. Crucially, identifying these high-risk patients early empowers clinicians to implement targeted management, ensuring they complete a full and adequate course of ECT to maximize therapeutic benefits and prevent premature termination.
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A two-decade bibliometric analysis (2004–2024) of parental factors in the context of internet gaming disorder research

ObjectiveThis is the first targeted bibliometric analysis which explores the development of scientific production on the relationship between parenting and Internet Gaming Disorder (IGD) over twenty years, emphasizing the central role of the family context in the etiology and maintenance of IGD.MethodsPapers indexed in Scopus and Web of Science databases from 2004 to December 31, 2024, were analyzed using the PRISMA guidelines, the R package Bibliometrix, and VOSviewer. A comprehensive search strategy was developed using Boolean operators to capture variations of parental and gaming-related terminology. Records were exported in BibTeX format and were merged and cleaned to remove duplicates before the analysis. A descriptive bibliometric analysis, bibliometric mapping, and content analysis were conducted to identify trends and thematic clusters. The analysis included 389 publications.ResultsThe most cited papers confirm the association of low parental warmth, family dysfunction, and comorbid psychiatric symptoms with a higher risk of IGD. Thematic mapping reveals six dominant clusters covering the conceptualization and diagnosis of IGD, parental mediation and virtual environment, psychological vulnerability and mental health, parenting and attachment, parenting styles and self-control, and problematic screen-related behaviors, and a strong concentration of publications in China, Germany, and the USA. The analysis also revealed an increase in publication output after 2013, with a notable acceleration following the inclusion of gaming disorder in the International Classification of Diseases 11th Revision (ICD-11).ConclusionThe bibliometric analysis reveals the rapid growth of research on parenting and IGD, highlighting the multifactorial nature of the disorder where dysfunctional family relationships increase risk, while supportive ones reduce it. Despite progress, longitudinal studies are needed for better understanding of causality and interventions.