Introduction Joubert syndrome and related disorders (JSRD) are rare and intractable diseases characterized by delayed psychomotor development, hypotonia and/or ataxia, and abnormal respiratory and eye movements. The Patient and Family Advocacy Group for Joubert Syndrome and Related Disorders in Japan was established in 2016. Since its inception, meetings for patients and families have been held approximately once a year. Methods An advocacy group meeting was held at our facility, consisting of a medical lecture and an open forum for information exchange among patients and families. A post-meeting questionnaire was administered to assess the needs and current circumstances of patients and families. Results Many patients were enrolled in or had attended special needs schools or received individualized educational accommodations. All patients had previously received rehabilitation therapy, with a significant proportion continuing therapy at the time of the survey. Families indicated a strong need for information on a range of topics, including medical care, social welfare, and education. Conclusions Addressing the ongoing needs of patients and families with rare and intractable diseases in the areas of healthcare, research, and support system remains a continuing challenge.

Ultrasound-driven shear wave propagation in soft tissue underlies shear wave elastography (SWE) and emerging elastomechanical hypotheses of ultrasonic neuromodulation, both of which require accurate, efficient modeling of radiation-force--induced tissue motion. General-purpose finite-element elastodynamic solvers are often computationally expensive and unnecessarily broad for shear-dominant applications. We derive a reduced viscoelastic formulation by applying near-incompressibility, small-strain linearization, Helmholtz decomposition, and solenoidal force projection to the full Navier equations, yielding a Kelvin--Voigt shear wave equation that retains only the transverse dynamics relevant to radiation-force--induced motion. An explicit finite-difference time-domain (FDTD) implementation with second-order spatial and temporal accuracy enforces the solenoidal body-force constraint via a matrix-free conjugate-gradient Poisson solve. For separable radiation-force sources, a pre-computed projection reduces this cost by one to two orders of magnitude. In homogeneous media the solver recovers the theoretical shear wavespeed to within $<$0.1\%, exhibits clear second-order grid convergence (trace-$L_2$ self-convergence, $p\gtrsim2$), and matches analytical Kelvin--Voigt attenuation and phase speed to within ${\sim}3\%$ and $<$1\% over a 16-point viscosity sweep ($η\in[0,1.5]$~Pa$\cdot$s). An end-to-end RSNA QIBA phantom benchmark recovers shear wave speeds to within ${\sim}1\%$ across a tenfold shear-modulus range ($G=1$--$10$~kPa). The framework accommodates spatial heterogeneity in shear modulus, density, and viscosity, and integrates with acoustic simulators. Transcranial demonstrations through micro-CT skull geometries produce shear displacements of 1.7--5~$μ$m consistent with clinical ARFI.

Purpose: To compare the ocular alignment of children with literacy-based learning difficulties to at-level peers. Methods: Australian primary-school-aged children were recruited to two groups according to learning difficulty status: at-level group (ALG and learning difficulties group (LDG). Cover test, prism, and alternate cover test, convergence near point, accommodation, fusional ranges, near and distance visual acuity, stereoacuity, and ocular motility were assessed at a single visit in 2023. Results: Eleven children (aged 7 to 12 years, 68.2% female) were recruited in each group. A latent deviation of small angle was observed at near in 81.8% (n = 9, median -3.1 PD) of children in the learning difficulties group but only 36.4% (n = 4, median -0.4 PD) in the at-level group (p = .080). The absolute magnitude of deviation for near was also larger in the LDG (n = 11, 6 PD) than the ALG (n = 11, 0 PD, p = .055). Reduced accommodative near point binocularly (p = .024), stereoacuity at near (p = .009), and near vision (oculus dexter [OD] p = .010, oculus sinister [OS] p = .053) were observed in the learning difficulties group. Conclusions: Latent deviations may be more prevalent among children with literacy-based learning difficulties. Accommodative near point, stereoacuity, and near vision may be reduced in this patient cohort. The differences found between the groups in this study indicate that clinicians should include assessment of accommodation, near vision, stereoacuity, and eye position when testing the vision and binocular vision of children with literacy-based learning difficulties.

Purpose: To explore the relationship between motor fusion and stereoacuity in adults with normal binocular single vision.Method: A sample of 31 adult participants was recruited by convenience sampling. The inclusion criteria included age 18-40 and no history of uncorrectable vision loss or strabismus. Examinations included visual acuity, orthoptic assessment and non-cycloplegic autorefraction (Canon RK-F2). Stereoacuity was performed using Precision Vision's Real Depth Stereo Test, Frisby Stereo Test, Titmus Stereo Fly Test and TNO. Prism fusion ranges were performed at 33 cm and 6 m, using an accommodative target. Written informed consent was obtained from all participants prior to the examination.Results: Participants had a mean age of 23.16 ± 2.48 years, were 80.6% female and 71% had myopia. Most were orthophoric (58.1%) at distance fixation and exophoric (67.7%) at near fixation. There was a moderate and significant correlation between distance and near convergence by prism fusion ranges (r = 0.64, p < .001). There was a moderate negative correlation between near convergence by prism fusion and stereoacuity using the Real Depth Stereo Test (r = -0.42, p = .018) and Frisby Stereo Test (r = -0.52, p = .003). However, there was no correlation between near convergence by prism fusion with Titmus (r = 0.19, p = .36) or TNO (r = -0.31, p = .1). Near divergence fusion range was not significantly correlated to any stereoacuity test (all p > .05).Conclusion: There was a significant relationship between convergence fusion range and stereoacuity measured using the Frisby and Real Depth stereo tests in this population of adults with normal binocular single vision.

Positive surgical margins (PSM) after radical prostatectomy are associated with biochemical recurrence, although margin status reflects a combination of tumour-related, anatomical, and operative factors. We aimed to derive and internally validate an interpretable nomogram that accommodates non-linear predictor effects and estimates postoperative PSM probability after laparoscopic radical prostatectomy (LRP) or robot-assisted radical prostatectomy (RARP). We retrospectively analysed 376 patients with prostate cancer who underwent LRP or RARP and had a documented postoperative margin status. The candidate set included demographic characteristics, indices of preoperative tumour burden, operative variables, comorbid conditions, and postoperative pathological findings. Least absolute shrinkage and selection operator (LASSO) regression was used for initial predictor reduction. Correlation matrices, variance inflation factors, and sensitivity analyses across Top-N predictor sets were used to examine redundancy, stability, and model size. Restricted cubic splines (RCS) were applied to continuous predictors to assess departures from linearity. The selected predictors were entered into multivariable logistic regression. Model performance was evaluated by receiver operating characteristic analysis, calibration plots, Brier scores, and decision curve analysis. A total of 376 patients with prostate cancer were included, of whom 155 (41.2%) had positive surgical margins (PSMs). Multiple margin sites were the most common pattern of PSM involvement (n = 91), followed by the apex (n = 35), base (n = 15), and lateral or posterolateral margins (n = 10). The PSM rate was 33.9% (83/245) in patients with pT2 disease and 68.8% (66/96) in those with pT3 disease. The corresponding PSM rates were 34.8% (49/141) for laparoscopic radical prostatectomy (LRP) and 45.1% (106/235) for robot-assisted radical prostatectomy (RARP). LASSO selection, feature-subset optimization, and subsequent multivariable modeling indicated that perineural invasion, the proportion of positive biopsy cores, seminal vesicle invasion, surgical approach, clinical T stage, lymphovascular invasion, age, and preoperative PSA-related variables contributed to PSM risk prediction. In the final multivariable model, perineural invasion (OR = 2.609, 95% CI: 1.328-5.124; P < 0.05) and the proportion of positive biopsy cores (OR = 1.020, 95% CI: 1.005-1.035; P < 0.05) were significantly associated with PSM. Restricted cubic spline analysis suggested a possible nonlinear association between preoperative log(PSA + 1) and the risk of PSM. The model achieved areas under the receiver operating characteristic curve of 0.801 in the training set and 0.824 in the validation set. The corresponding Brier scores were 0.1778 and 0.1697, respectively. Calibration curves showed overall agreement between predicted probabilities and observed outcomes. Decision curve analysis further indicated that the model provided a positive clinical net benefit across a range of threshold probabilities. The internally validated nomogram separated patients with and without PSM reasonably well, produced acceptably calibrated risk estimates, and may assist postoperative risk stratification after LRP or RARP. Independent validation is necessary before clinical implementation.

Concentrated surfactant pastes often form lamellar liquid-crystalline phases whose processing depends on alignment, confinement, temperature, and defect topology. Here, we investigate temperature-driven lamellar contraction and parabolic focal conic defect (pFCD) formation in 70 wt% sodium lauryl ether sulfate (SLEnS) lamellar pastes using small-angle X-ray scattering (SAXS), confined cross-polarized microscopy, and confined oscillatory rheometry. SAXS measurements show that the lamellar repeat spacing decreases with increasing temperature in both SLE1S and SLE3S, corresponding to one-dimensional, bilayer-normal negative thermal expansion. This contraction was observed in both bulk-thickness and confined SAXS geometries, indicating that the nanoscale thermal response is not specific to sample thickness, chemistry, or instrument configuration. Under confinement, squeeze-flow alignment appears to produce coherent lamellar stacks that cannot freely accommodate the temperature-dependent spacing decrease. Heating these aligned lamellae produces thermal undulations and optically resolved pFCD fleurettes. SLE3S forms pFCDs at a lower onset temperature and completes defect development over a lower temperature range, whereas SLE1S forms brighter and larger final pFCD textures. Confined rheometry shows non-monotonic changes in storage and loss moduli over the same temperature range as lamellar contraction and pFCD development, suggesting coupling between nanoscale contraction, mesoscale defect formation, and bulk viscoelasticity. Together, these results establish a confinement-mediated mechanism by which lamellar negative thermal expansion generates compressive strain, undulatory defect formation, and altered mechanics in industrially relevant concentrated surfactant pastes.

Two-dimensional carbon nitride materials have emerged as promising candidates for multifunctional applications. Motivated by the growing interest in carbon nitride-based two-dimensional materials, we investigated the hydrogen storage capacity of a Li-decorated P-C3N (Li@P-C3N) monolayer using density functional theory (DFT) calculations. Upon functionalization with Li atoms, the P-C3N monolayer can accommodate up to 12 H2 molecules, achieving a hydrogen storage capacity of 9.59 wt % with adsorption energies ranging from -0.18 to -0.13 eV per H2. The calculated material-level gravimetric capacity exceeds the numerical value of the DOE system-level gravimetric target. The hydrogen adsorption mechanism on Li@P-C3N was analyzed through charge transfer analysis, projected density of states (PDOS), and noncovalent interaction (NCI) analysis. The thermal stability of both pristine P-C3N and Li@P-C3N systems was examined using ab initio molecular dynamics (AIMD). Furthermore, the dynamical stability of Li@P-C3N was confirmed through phonon dispersion calculations. The reversibility of hydrogen adsorption in the Li@P-C3N + 12H2 system was also investigated using AIMD simulations. These results demonstrate that Li-decorated P-C3N is a highly efficient candidate for hydrogen storage. Therefore, experimental investigations of P-C3N are strongly encouraged to validate its potential for reversible hydrogen storage applications.

The conversion of CO2 into value-added chemicals represents a promising strategy for sustainable synthesis. Herein, we report a natural light-promoted cyclization of propargylic amides with CO2 using commonly used halogenating reagents as both the reaction promoter and halogen source to access 5-(halomethylene)oxazolidine-2,4-diones, which enables the one-pot construction of C─O, C─N, and C─X bonds. The protocol accommodates a broad range of substrates, and a variety of functional groups are well-tolerated under mild reaction conditions, providing access to functionalized oxazolidine-2,4-diones up to 92% yield as single E isomers. The mechanistic experiments reveal that the reaction may proceed along two pathways, which are the radical pathway (Path A) and the halonium pathway (Path B). The resulting 5-(halomethylene)oxazolidine-2,4-diones could be further transformed to complex molecules, highlighting the versatility.

Chronic obstructive pulmonary disease (COPD) is associated with cardiovascular disease and chronic kidney disease, but with conflicting estimates. We aimed to quantify the association of COPD and incident cardiovascular diseases, chronic kidney disease and death.

The establishment of mutualistic symbiosis with microorganisms has contributed to the ecological success and diversification of a wide range of insect lineages. In such systems, microbial partners are often stably inherited across generations and have co-evolved with their hosts over long evolutionary timescales. These intimate associations are often supported by specialized symbiotic organs that intracellularly or extracellularly harbor beneficial microorganisms. As an interface between hosts and symbionts, these symbiotic organs play a pivotal role in harnessing diverse symbiont functions, as represented by nutritional supplementation. However, what constitutes an optimal symbiotic state can vary across life stages, infection status, or environmental conditions. Recent studies have revealed that symbiotic organs undergo dynamic, life-stage-specific remodeling during the lifetime of a single insect, highlighting the remarkable flexibility and sophistication of insect-microbe interactions. This review synthesizes recent advances in our understanding of such dynamic regulation, with particular emphasis on the midgut symbiotic organ in stinkbugs. It illustrates how regional differentiation within the midgut enables diverse functions, including symbiont sorting, population control, and vertical transmission, beyond its primary role in nutritional interactions. Moreover, life stage-specific adjustments and remodeling of the symbiotic midgut flexibly accommodate potentially incompatible constraints arising from varying food sources, symbiont status, and host metabolic demands. Elucidating the dynamic nature of insect-microbe interactions across the entire life cycle will shed light on previously unexplored aspects of the evolutionary trajectories and adaptive mechanisms underlying mutualistic symbiosis.