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    Rothwell Classification of AI and Internet Search Results in Blepharoplasty Related Queries

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    Patients increasingly turn to online search engines and artificial intelligence (AI) tools to gather information about blepharoplasty, yet the accuracy and reliability of these sources remain uncertain. In this study, ten blepharoplasty-related search terms were entered into Google Chrome using a standardized, depersonalized browser. For each term, the Google Gemini AI-generated response and the top 50 "People Also Ask" (PAA) questions were collected. Questions were categorized using the Rothwell classification system and subcategorized by topic. Most questions were fact-based (53%), with technical details (25.6%) and cost (18.6%) being the most frequent subtopics. The majority of linked webpages originated from single-surgeon or medical practice sites (39.0% and 24.7%), which demonstrated the lowest average JAMA scores (1.67 and 1.83). In contrast, peer-reviewed journals and academic sources achieved the highest JAMA scores but were rarely represented among results. Google Gemini responses predominantly referenced academic sources (60%) and achieved higher average JAMA scores (2.40) than webpages retrieved through PAA. Overall, online blepharoplasty information is highly variable and frequently falls short of established standards for authorship, attribution, and reliability. Although AI-generated responses demonstrated superior quality compared with traditional search results, inconsistencies in source citation remain a concern. These findings highlight the ongoing need for quality oversight of online medical content and suggest that, when properly regulated, AI tools may serve as valuable adjuncts in patient education

    MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults

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    MRPS genes, which encode components of the small mitoribosomal subunit, have not been previously linked to adult-onset neurological diseases. These genes play a critical role in mitochondrial translation and the biogenesis of the oxidative phosphorylation system. Whole Genome Sequencing was performed on adult patients presenting with an unexplained neurological picture. In parallel, functional studies were carried out in patient-derived fibroblasts to assess mitochondrial translation and the status of oxidative phosphorylation pathways. Bi-allelic pathogenic variants in MRPS22, MRPS23, and MRPS34 were identified in four patients from unrelated families. All patients presented a similar complex neurological phenotype, including cerebellar ataxia, distal motor neuropathy, pyramidal syndrome, and a distinctive leukoencephalopathy on brain MRI. Additional findings included elevated cerebrospinal fluid (CSF) protein levels and profound cerebral folate deficiency. Functional analyses revealed impaired mitochondrial translation and multiple defects in oxidative phosphorylation. Treatment with oral folinic acid resulted in clinical stabilization, radiological improvement, and normalization of CSF 5-methyltetrahydrofolate levels. Our findings expand the spectrum of mitochondrial diseases caused by defects in mitoribosomal proteins, highlighting their role in adult-onset neurological disorders with distinctive brain imaging features, high CSF protein levels, and cerebral folate deficiency

    Voice and Speech in Atypical Parkinsonian Disorders

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    Motor speech disorders are early, common, and functionally limiting features of atypical parkinsonian disorders (APDs) such as progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy (MSA). These impairments are underrecognized and undertreated in neurology clinics. This review aims to characterize speech impairment in APDs, offer practical guidance for clinical evaluation, highlight the role of Speech-Language pathologists (SLPs) in diagnosis and management, and outline current and emerging management strategies. A narrative review was conducted by the Diagnosis and Treatment Working Group of CurePSP's Centers of Care, integrating literature and clinical experience to summarize evaluation, diagnosis, and treatment of motor speech disorders in APDs. Speech changes in APDs are often mixed dysarthrias with hypokinetic, spastic, and/or ataxic components, and may include apraxia of speech; these are frequently more severe and progress quicker than in Parkinson's disease. These features can assist in differential diagnosis and should prompt early referral to SLPs. Despite the high prevalence of speech and voice changes, comprehensive assessment of motor speech disorders is uncommon in neurology clinics. Current evidence regarding the efficacy of interventions is mixed. Digital acoustic analysis and neuromodulation offer promising directions for diagnosis and treatment. Early, collaborative management of motor speech impairment elevates care in APDs. Neurologists and SLPs must work together to improve recognition, diagnosis, and care. Future research should focus on objective biomarkers and personalized therapies to support communication, autonomy, and quality of life for individuals living with APDs

    Targeting the APOM/S1P/S1PR4 AXIS in a Mouse Model of Glomerular Disease

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    Renal lipid dysmetabolism is increasingly recognized as a key contributor to glomerular disease progression, including Alport Syndrome. We previously identified alterations in the apolipoprotein M (APOM), sphingosine-1-phosphate (S1P), and S1P receptor 4 (S1PR4) signaling axis in human glomerular disease. In this dissertation, we investigated whether this pathway is altered in Alport Syndrome and whether its modulation provides a therapeutic benefit. Glomeruli and podocytes from Col4a3-/- mice, a mouse model of Alport Syndrome exhibited reduced APOM and increased S1PR4 expression, mirroring the pattern observed in human disease. Treatment beginning at early disease stages with recombinant APOM or with CYM50358, a selective S1PR4 antagonist, prevented progression to renal failure and reduced neutral lipid accumulation in glomeruli and podocytes. S1PR4 antagonism enhanced autophagy and lysosomal clearance of lipid droplets, while APOM treatment increased cholesterol efflux, indicating that each treatment promotes distinct lipid clearance pathways. APOM knockdown or S1PR4 overexpression in podocytes were sufficient to induce cell death, although neither manipulation produced lipid droplet accumulation, suggesting that neutral lipid accumulation is an Alport Syndrome-specific phenotype not caused by these alterations alone. Together, these findings identify the APOM/S1PR4 axis as a therapeutically targetable pathway that modulates podocyte lipid handling and protects against renal injury in Alport Syndrome.</p

    Symptom triad of primary cervical rhabdomyosarcomas as seen in a Nigerian tertiary hospital: A case series

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    •Primary cervical rhabdomyosarcoma is an exceptionally rare tumor.•A symptom triad for cervical rhabdomyosarcoma: cervical mass with uterine descent, gelatinous mucoid discharge, and bleeding.•Early recognition of this triad may improve the timeliness of diagnosis and management.•Surgical resection, followed by adjuvant chemotherapy or chemo-radiotherapy, led to positive outcomes in this case series.•Multidisciplinary team management, radiologic staging and immunohistochemistry were limited, highlighting key challenges

    Comparative Study of Zero-Net Mass Flux Flow Control Airfoils Using Fluidic Actuators

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    This paper examines four different active flow control (AFC) airfoils employing fluidic actuators in a zero net mass flux configuration. Modifications to the base NACA 6421 airfoil are made to achieve the four AFC airfoil configurations. Suction and injection slots, positioned at different locations and orientations on the upper surface, provide the means of fluidic actuation. Computational fluid dynamics (CFD) simulations are conducted using the in-house FASIP CFD code, which is a validated RANS solver incorporating the Spalart-Allmaras (SA) turbulence model, a third-order WENO scheme for inviscid fluxes, and second-order central differencing for viscous terms. The investigation is conducted at a Mach number (M) of 0.10 and a Reynolds number Re of 2.6 × 10^6 under a simulated cruise conditions. Comparison with the baseline NACA 6421 airfoil demonstrate significant enhancements in lift and drag performance in three of the four AFC configurations studied. Examination of the isentropic Mach number plots reveal that having the suction slot located downstream of the suction peak, such as in AFC2 and AFC4, demonstrate lower power requirements than the configuration with the suction slot positioned in the vicinity of the suction peak, AFC1. Force component analysis conducted on all airfoils indicates a significant benefit of the jet reactionary force applied to airfoils with injection slots downstream of the suction slot, although the extent of this benefit may depend on the proximity to the suction slot and to the trailing edge. Furthermore, it is noted that AFC4, the configuration representing the Co-Flow Jet (CFJ), has the highest lift enhancement by airfoil circulation augmentation, substantially larger than AFC1, AFC2, and AFC3, however, the position and orientation of the suction slot reduces the overall lift increment. Both AFC2 and AFC4 achieve peak aerodynamic efficiency at relatively lower AoA of α = 10◦ and α = 5◦, respectively, with AFC2 and AFC4 achieving the highest efficiencies of (CL/CD)c = 91.91 and (CL/CD)c = 89.56 respectively. AFC1 achieves higher airfoil productivity values although at higher AoA than the alternative configurations, achieving the highest value of (CL^2/CD)c = 192.93 at α = 20◦. AFC2 demonstrates the highest effectiveness gain over the baseline NACA6421. It also has the highest efficiency gain, except at α = 5◦ at which point AFC4 peaks before steadily declining. AFC1 steadily increases in both effectivenss gain and efficiency gain until α = 15◦ . However, AFC3 is less effective and efficient than the baseline NACA6421 airfoil until α = 10

    Data associated with the publication: Whole-body in vivo MPI cytometry reveals injection route-, dose-, cell size- and disease-dependent differences in organ biodistribution

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    The datasets within correspond to the Science Advances article titled “Whole-Body in Vivo MPI Cytometry Reveals Injection Route-, Dose-, Cell Size- and Disease-Dependent Differences in Organ Biodistribution”. The data are organized in terms of the corresponding Figure number within the paper: https://www.biorxiv.org/content/10.1101/2025.09.11.675624v2.abstrac

    Chapter 37 - Extracellular ATP in sensory disorders with a focus on protective purinergic hearing adaptation

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    Extracellular adenosine 5'-triphosphate (ATP) is a key homeostatic regulator of sensory systems, with signal transduction via ATP-gated ion channels (P2X receptors) prominent across a broad range of mechanisms. This dependency of sense organs on ATP signaling is highlighted in the cochlea. Local autocrine/paracrine signaling by extracellular ATP within the cochlear partition is activated by sustained elevated noise and leads to protective desensitization of the outer hair cell-mediated “cochlear amplifier” and hence protects against glutamatergic excitotoxicity at the inner hair cell-type I spiral ganglion neuron synapses. Single-nucleotide polymorphisms of the P2RX2 gene encoding P2X2 receptor (P2X2) channels have been identified, which demonstrate the significance of this adaptive mechanism for sustained resistance to noise- and age-related hearing loss (DFNA41 autosomal dominant nonsyndromic hearing loss). The “purinergic hearing adaptation postulate” delineated here considers the purinergic interactome engaging P2X2 signaling, which likely drives a spectrum of vulnerability to hearing loss inherent to the diversity in the strength of the signaling process. This encompasses factors affecting how acoustic energy drives ATP release within the cochlear partition, the production and trafficking of P2X2 to the endolymph-facing membrane surfaces of the sensory hair cells, supporting cells, and epithelial tissues, as well as degradation processes (ecto-nucleotidases) and downstream signaling cascades associated with Ca2+ dynamics. All these “physiological elements” affected by gene expression, protein translation and posttranslational modifications, trafficking and chaperone proteins, in toto, confer unique individual profiles of otoprotection that likely in part contribute to the breadth of diversity in vulnerability to hearing loss in the population

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