A Homozygous Variant in NAA60 Is Associated with Primary Familial Brain Calcification.

BACKGROUND: Primary familial brain calcification (PFBC) is a monogenic disorder characterized by bilateral calcifications in the brain. The genetic basis remains unknown in over half of the PFBC patients, indicating the existence of additional novel causative genes. NAA60 was a recently reported novel causative gene for PFBC. OBJECTIVE: The aim was to identify the probable novel causative gene in an autosomal recessive inherited PFBC family. METHODS: We performed a comprehensive genetic study on a consanguineous Chinese family with 3 siblings diagnosed with PFBC. We evaluated the effect of the variant in a probable novel causative gene on the protein level using Western blot, immunofluorescence, and coimmunoprecipitation. Possible downstream pathogenic mechanisms were further explored in gene knockout (KO) cell lines and animal models. RESULTS: We identified a PFBC co-segregated homozygous variant of c.460_461del (p.D154Lfs*113) in NAA60. Functional assays showed that this variant disrupts NAA60 protein localization to Golgi and accelerated protein degradation. The mutant NAA60 protein alters its interaction with the PFBC-related proteins PiT2 and XPR1, affecting intracellular phosphate homeostasis. Further mass spectrometry analysis in NAA60 KO cell lines revealed decreased expression of multiple brain calcification-associated proteins, including reduced folate carrier (RFC), a folate metabolism-related protein. CONCLUSIONS: Our study replicated the identification of NAA60 as a novel causative gene for autosomal recessive PFBC, demonstrating our causative variant leads to NAA60 loss of function. The NAA60 loss of function disrupts not only PFBC-related proteins (eg, PiT2 and XPR1) but also a wide range of other brain calcification-associated membrane protein substrates (eg, RFC), and provided a novel probable pathogenic mechanism for PFBC. © 2024 International Parkinson and Movement Disorder Society.

The Preparation of g-C3N4/ZnIn2S4 Nano-Heterojunctions and Their Enhanced Efficient Photocatalytic Hydrogen Production.

Hydrogen production technology has triggered a research boom in order to alleviate the problems of environmental pollution and the pressure on non-renewable energy sources. The key factor of this technology is the use of an efficient photocatalyst. g-C3N4 is a typical semiconductor photocatalytic material that is non-toxic and environmentally friendly and does not cause any serious harm to human beings. Therefore, it can be applied to drug degradation and the photocatalytic production of H2. Combined with ZnIn2S4, this semiconductor photocatalytic material, with a typical lamellar structure, has become one of the most promising catalysts for research due to its suitable bandgap structure and excellent photoelectric properties. In this study, 10% g-C3N4/ZnIn2S4 nano-heterojunction composite photocatalytic materials were successfully prepared by compounding ZnIn2S4 and g-C3N4 semiconductor materials with good visible-light-trapping ability. Under visible light irradiation, the photocatalytic activity of the composites was significantly better than that of pure g-C3N4 and ZnIn2S4. This is attributed to the formation of a heterojunction structure, which effectively inhibited the recombination of photogenerated carriers through the interfacial contact between the two semiconducting materials, and then improved the separation efficiency of the photogenerated electron-hole pairs, thus enhancing the catalytic activity. In this study, pure g-C3N4 and ZnIn2S4 were prepared using calcination and hydrothermal methods, and then, the composites were synthesized using ultrasonic and hydrothermal means. The differences in the structure, morphology, and hydrogen production performance of the materials before and after recombination were analyzed in detail using XRD, SEM, and FTIR characterization, which further verified that the 10% g-C3N4/ZnIn2S4 nano-heterojunction composites possessed excellent photocatalytic activity and stability, providing new possibilities for the optimization and application of photocatalytic hydrogen production technology.

Platelet-rich plasma promotes skeletal muscle regeneration and neuromuscular functional reconstitution in a concentration-dependent manner in a rat laceration model.

Abnormal function of injured muscle with innervation loss is a challenge in sports medicine. The difficulty of rehabilitation is regenerating and reconstructing the skeletal muscle tissue and the neuromuscular junction (NMJ). Platelet-rich plasma (PRP) releases various growth factors that may provide an appropriate niche for tissue regeneration. However, the specific mechanism of the PRP's efficacy on muscle healing remains unknown. In this study, we injected PRP with different concentration gradients (800, 1200, 1600 × 109 pl/L) or saline into a rat gastrocnemius laceration model. The results of histopathology and neuromyography show that PRP improved myofibers regeneration, facilitated electrophysiological recovery, and reduced fibrosis in a concentration-dependent manner. Furthermore, we found that PRP promotes the activity of satellite cells by upregulating the expression of the myogenic regulatory factor (MyoD, myogenin). Meanwhile, PRP promotes the regeneration and maturation of acetylcholine receptor (AChR) clusters of the Neuromuscular junction (NMJ) on the regenerative myofibers. Finally, we found that the expression of the Agrin, LRP4, and MuSK was upregulated in the PRP-treated groups, which may contribute to AChR cluster regeneration and functional recovery. The conclusions proposed a hypothesis for PRP treatment's efficacy and mechanism in muscle injuries, indicating promising application prospects.

Functional connectivity analysis on electroencephalography signals reveals potential biomarkers for treatment response in major depression.

BACKGROUND: The treatment efficacy varies across individual patients with major depressive disorder (MDD). It lacks robust electroencephalography (EEG) markers for an antidepressant-responsive phenotype. METHOD: This is an observational study enrolling 28 patients with MDD and 33 healthy controls (mean age of 40.7 years, and 71.4% were women). Patients underwent EEG exams at baseline (week0) and week1, while controls' EEG recordings were acquired only at week0. A resting eye-closing EEG segment was analyzed for functional connectivity (FC). Four parameters were used in FC analysis: (1) node strength (NS), (2) global efficiency (GE), (3) clustering coefficient (CC), and (4) betweenness centrality (BC). RESULTS: We found that controls had higher values in delta wave in the indices of NS, GE, BC, and CC than MDD patients at baseline. After treatment with antidepressants, patients' FC indices improved significantly, including GE, mean CC, and mean NS in the delta wave. The FC in the alpha and beta bands of the responders were higher than those of the non-responders. CONCLUSIONS: The FC of the MDD patients at baseline without treatment was worse than that of controls. After treatment, the FC improved and was close to the values of controls. Responders showed better FC in the high-frequency bands than non-responders, and this feature exists in both pre-treatment and post-treatment EEG.

Temporal optical activity and chiral time-interfaces [Invited].

Time-interfaces, at which the optical properties of a medium undergo abrupt and spatially uniform changes, have attracted surging interest in optics and wave physics. In this work, we study wave scattering at time-interfaces involving chiral media. Dual to spatial interfaces involving chiral media, we show that a propagating wave is split upon a chiral time-interface into two orthogonal circular polarization waves oscillating at different frequencies. We formulate the temporal scattering boundary-value problem at such time-interfaces, and then demonstrate the effect of temporal optical activity through a chiral time-slab. The effect of material dispersion is also analyzed, highlighting interesting opportunities in which multiple scattered waves emerge form the time-interface and interfere. Our results pave the way towards time-metamaterials encompassing chirality as an additional degree of freedom for wave manipulation, offering opportunities for temporal circular dichroism and negative refraction at time-interfaces.

Models for resonant acoustic metasurfaces with application to moth wing ultrasound absorption.

Taking as bioinspiration the remarkable acoustic absorption properties of moth wings, we develop a simple analytical model that describes the interaction between acoustic pressure fields, and thin elastic plates incorporating resonant sub-structures. The moth wing is an exemplar of a natural acoustic metamaterial; the wings are deeply subwavelength in thickness at the frequencies of interest, the absorption is broadband and the tiny scales resonate on the moth wing acting in concert. The simplified model incorporates only the essential physics and the scales are idealized to flat rigid rectangular plates coupled via a spring to an elastic plate that forms the wing; all the components are deep-subwavelength at desired frequencies. Based on Fourier analysis, complemented by phenomenological modelling, our theory shows excellent agreement with simulation mimicking the moth-wing structure. Moth wings operate as broadband sound absorbers employing a range of scale sizes. We demonstrate that a random distribution of scale sizes generates a broadband absorption spectrum. To further illustrate the potential of the model, we design a deeply sub-wavelength acoustic counterpart of electromagnetically induced reflectance. This article is part of the theme issue 'Wave generation and transmission in multi-scale complex media and structured metamaterials (part 2)'.

Cytotoxic and Anti-Inflammatory Triterpenoids in the Vines and Leaves of Momordica charantia.

The vines and leaves of Momordica charantia L. are used as herbal medicines to treat inflammation-related disorders. However, their safety profile remains uncharacterized, and the constituents in their extracts that exert anti-inflammatory and adverse effects remain unclear. This study isolated the characteristic cucurbitane-type triterpenoid species in the vines and leaves of M. charantia L. and analyzed their cytotoxicity, anti-inflammatory effects, and underlying mechanisms. Four structurally related triterpenoids-momordicines I, II, IV, and (23E) 3ß,7ß,25-trihydroxycucurbita-5,23-dien-19-al (TCD)-were isolated from the triterpenoid-rich fractions of extracts from the vines and leaves of M. charantia. Momordicine I was cytotoxic on normal cells, momordicine II exerted milder cytotoxicity, and momordicine IV and TCD had no obvious adverse effects on cell growth. TCD had anti-inflammatory activity both in vivo and in vitro. In lipopolysaccharide-stimulated RAW 264.7 cells, TCD inhibited the inhibitor kappa B kinase/nuclear factor-κB pathway and enhanced the expression of nuclear factor erythroid 2-related factor 2, heme oxygenase-1, and glutamate-cysteine ligase modifier subunit through the extracellular signal-regulated kinase1/2 and p38. Thus, the vines and leaves of M. charantia should be used with caution. An extraction protocol that can enrich TCD but remove momordicine I would likely enhance the safety of the extract.

Cyclotetrabenzoin Acetate: A Macrocyclic Porous Molecular Crystal for CO2 Separations by Pressure Swing Adsorption*.

A porous molecular crystal (PMC) assembled by macrocyclic cyclotetrabenzoin acetate is an efficient adsorbent for CO2 separations. The 7.1×7.1 Šsquare pore of PMC and its ester C=O groups play important roles in improving its affinity for CO2 molecules. The benzene walls of macrocycle engage in an apparent [π⋅⋅⋅π] interaction with the molecule of CO2 at low pressure. In addition, the polar carbonyl groups pointing inward the square channels reduce the size of aperture to a 5.0×5.0 Šsquare, which offers kinetic selectivity for CO2 capture. The PMC features water tolerance and high structural stability under vacuum and various gas adsorption conditions, which are rare among intrinsically porous organic molecules. Most importantly, the moderate adsorbate-adsorbent interaction allows the PMC to be readily regenerated, and therefore applied to pressure swing adsorption processes. The eluted N2 and CH4 are obtained with over 99.9 % and 99.8 % purity, respectively, and the separation performance is stable for 30 cycles. Coupled with its easy synthesis, cyclotetrabenzoin acetate is a promising adsorbent for CO2 separations from flue and natural gases.

Dual-hybrid direct random phase approximation and second-order screened exchange with nonlocal van der Waals correlations for noncovalent interactions.

We have added the nonlocal van der Waals correlation energy functional of Vydrov and Van Voorhis in 2010 (VV10NL) to the dual-hybrid direct random phase approximation (dRPA75) and second-order screened exchange (SOSEX75) for noncovalent interactions. The obtained methods are denoted as dRPA75-NL and SOSEX75-NL, and the corresponding short-range attenuation parameters are fitted with the large aug-cc-pV5Z basis set against the S66 dataset. Therefore, the dRPA75-NL method overcomes the error cancellation problem of the dRPA75 method with the relatively small aug-cc-pVTZ basis set for noncovalent interactions. Based on our benchmark computations, the dRPA75-NL and SOSEX75-NL methods perform very well on evaluating noncovalent interaction energies. Compared with the double-hybrid density functionals (DHDFs) of DSD-PBEP86-NL and DOD-PBEP86-NL, the dRPA75-NL and SOSEX75-NL methods perform much better on charge transfer interactions. Furthermore, the SOSEX75-NL method also gives insight into the development of computational methods for both closed-shell and open-shell noncovalent interactions. In summary, our computations demonstrate that even the full dRPA and SOSEX correlations still need additional dispersion corrections for noncovalent interactions.

Floquet topological photonic crystals with temporally modulated media.

We show that Floquet topological insulating states can exist in two-dimensional photonic crystals made of time-variant optical materials. By arranging the modulating phases, it facilitates effective gauge fields that give rise to topological effects. The band structures demonstrate the existence of topologically non-trivial bandgaps, thereby leading to back-scattering immune unidirectional edge states owing to bulk-edge correspondence. With these first-principle numerical results, we then verify the topological order for every Floquet band via Wilson loop approach. In the final paragraph, the possible experimental implementation for Floquet topological photonics is also discussed.

Wood Anomalies and Surface-Wave Excitation with a Time Grating.

In order to confine waves beyond the diffraction limit, advances in fabrication techniques have enabled subwavelength structuring of matter, achieving near-field control of light and other types of waves. The price is often expensive fabrication needs and the irreversibility of device functionality, as well as the introduction of impurities, a major contributor to losses. In this Letter, we propose temporal inhomogeneities, such as a periodic drive in the electromagnetic properties of a surface which supports guided modes, as an alternative route for the coupling of propagating waves to evanescent modes across the light line, thus circumventing the need for subwavelength fabrication, and achieving the temporal counterpart of the classical Wood anomaly. We show analytically and numerically how this concept is valid for any material platform and at any frequency, and propose and model a realistic experiment in graphene to couple terahertz radiation to plasmons with unit efficiency, demonstrating that time modulation of material properties could be a tunable, lower-loss and fast-switchable alternative to the subwavelength structuring of matter for near-field wave control.

The scattering of sound by objects with dynamic deformations.

In this article, a sonic scattering problem of arbitrarily shaped, time-varying rigid surfaces is analytically solved by exploiting perturbation theory. The results demonstrate multi-frequency scattering characteristics resulting from a single moving object and the nonreciprocity from spinning components. The proposed approach is numerically verified, from audio through to ultrasonic frequencies, by full-wave simulation based on the finite-element method. This numerical simulation also validates the non-reciprocal phenomenon in such systems. In addition, the theory for multiple Floquet scattering of sound is built, which lays the foundation for advanced studies relevant to Floquet phononic crystals and novel time-varying sonic devices.

Diameter measurement of optical nanofiber based on high-order Bragg reflections using a ruled grating.

A convenient method using a commercially available ruled grating for precise and overall diameter measurement of optical nanofibers (ONFs) is presented. We form a composite Bragg reflector with a micronscale period by dissolving aluminum coating, slicing the grating along ruling lines, and mounting it on an ONF. The resonant wavelengths of high-order Bragg reflections possess fiber diameter dependence, enabling nondestructive measurement of the ONF diameter profile. This method provides an easy and economic diagnostic tool for wide varieties of ONF-based applications.

Newly Diagnosed Bipolar Disorder and the Subsequent Risk of Erectile Dysfunction: A Nationwide Cohort Study.

BACKGROUND: Although erectile dysfunction (ED) is a common problem in men with mental disorders, there are few reports in the literature on the relation between bipolar disorder (BD) and ED. AIMS: To establish the incidence rate of ED in men with BD and assess the risk of ED in patients with BD according to type of treatment offered or no active treatment with medication during the 1st year of onset. METHODS: We identified 5,150 men with newly diagnosed BD using Taiwan's National Health Insurance Research Database. 2 matched controls per case were selected using the propensity score and a greedy matching method to obtain a balanced control group. Multivariate Cox regression analysis was used to examine the independent risk factors for ED, including obesity and comorbidities. Hazard ratios (HRs) for ED risk were calculated for the different psychotropic therapy groups, including antidepressants, antipsychotics, and mood stabilizers. OUTCOME: HRs for ED risk were calculated for the different psychotropic therapy groups, including antidepressants, antipsychotics, and mood stabilizers. Patients with BD had a significantly higher HR for an ED diagnosis than controls. RESULTS: Patients with BD had a higher HR for an ED diagnosis than controls. Although some psychotropic medications can increase the risk of ED, patients with BD not actively treated with medication still showed a higher risk of ED than controls. CLINICAL IMPLICATIONS: Because ED might be more prevalent in patients with BD than in the general population, clinicians should assess erectile function when selecting appropriate treatment for patients with BD to minimize the risk of ED as an annoying side effect and improve treatment compliance. STRENGTHS AND LIMITATIONS: This is the first large-scale population-based study to explore the association between BD and ED. A particular strength of this study is its nationwide, population-based study design, which afforded substantial statistical power for detecting subtle differences between the 2 cohorts, thereby minimizing selection bias. There are some limitations to the present study. (i) Data on other potential risk factors is lacking. (ii) Patient compliance and dose effect between psychotropic medication and ED could not be established. (iii) We could not assess the relation between ED and the severity and phases of BD. CONCLUSION: This cohort study found a temporal association between BD and subsequent ED in a large national sample of men. Clinicians should consider the risk of ED when choosing treatment for patients with BD. Hou P-H, Mao FC, Chang G-R, et al. Newly Diagnosed Bipolar Disorder and the Subsequent Risk of Erectile Dysfunction: A Nationwide Cohort Study. J Sex Med 2018;15:183-191.

Optimization of pump size in a solid-state laser considering the temperature distribution in a laser medium.

The influences of the temperature distribution of a laser medium on thermal effects, especially on the thermally induced diffraction losses, have been investigated in this paper. The results show that the thermally induced diffraction losses are decreasing functions of the pump beam radius for identical mode-to-pump ratios in the laser medium, but it is approximately constant if the real temperature is neglected. Applying this theoretical model to a diode-end-pumped Nd:GdVO4 laser at 1342 nm, the pump size was optimized to scale the output power, and the theoretical results are in good agreement with the experimental results.

Precise and efficient measurement of tibial slope on magnetic resonance imaging (MRI): two novel autonomous pipelines by traditional and deep learning algorithms.

Background: The measurement of posterior tibial slopes (PTS) can aid in the screening and prevention of anterior cruciate ligament (ACL) injuries and improve the success rate of some other knee surgeries. However, the circle method for measuring PTS on magnetic resonance imaging (MRI) scans is challenging and time-consuming for most clinicians to implement in practice, despite being highly repeatable. Currently, there is no automated measurement scheme based on this method. To enhance measurement efficiency, consistency, and reduce errors resulting from manual measurements by physicians, this study proposes two novel, precise, and computationally efficient pipelines for autonomous measurement of PTS. Methods: The first pipeline employs traditional algorithms with experimental parameters to extract the tibial contour, detect adhesions, and then remove these adhesions from the extracted contour. A cyclic process is employed to adjust the parameters adaptively and generate a better binary image for the following tibial contour extraction step. The second pipeline utilizes deep learning models for classifying MRI slice images and segmenting tibial contours. The incorporation of deep learning models greatly simplifies the corresponding steps in pipeline 1. Results: To evaluate the practical performance of the proposed pipelines, doctors utilized MRI images from 20 patients. The success rates of pipeline 1 for central, medial, and lateral slices were 85%, 100%, and 90%, respectively, while pipeline 2 achieved success rates of 100%, 100%, and 95%. Compared to the 10 minutes required for manual measurement, our automated methods enable doctors to measure PTS within 10 seconds. Conclusions: These evaluation results validate that the proposed pipelines are highly reliable and effective. Employing these tools can effectively prevent medical practitioners from being burdened by monotonous and repetitive manual measurement procedures, thereby enhancing both the precision and efficiency. Additionally, this tool holds the potential to contribute to the researches regarding the significance of PTS, particularly those demanding extensive and precise PTS measurement outcomes.

Postless Distraction Technique With No Additional Equipment in Hip Arthroscopy.

Hip arthroscopy has become a predominant treatment for hip disorders such as femoroacetabular impingement syndrome and labral injury, and appropriate distraction for the hip joint is necessary for successful surgery. The traditional distraction method uses a perineal post but may cause complications such as perineum injury and nerve damage. For this reason, some surgeons have proposed postless distraction techniques, but they usually require additional equipment purchase and cost, which is not conducive to application. Therefore, we developed a post-free distraction technique without additional equipment. This method uses only surgical draw sheets, safety straps, a hip fracture table, and a hip distractor that are routinely provided in the operating room, and postless hip distraction can be achieved by using the Trendelenburg position, which is reliable, simple, and reproducible to be used in hip arthroscopy.

A review and bibliometric analysis of global research on proton radiotherapy.

Proton beam therapy (PBT) has great advantages as tumor radiotherapy and is progressively becoming a more prevalent choice for individuals undergoing radiation therapy. The objective of this review is to pinpoint collaborative efforts among countries and institutions, while also exploring the hot topics and future outlook in the field of PBT. Data from publications were downloaded from the Web of Science Core Collection. CiteSpace and Excel 2016 were used to conduct the bibliometric and knowledge map analysis. A total of 6516 publications were identified, with the total number of articles steadily increasing and the United States being the most productive country. Harvard University took the lead in contributing the highest number of publications. Paganetti Harald published the most articles and had the most cocitations. PHYS MED BIOL published the greatest number of PBT-related articles, while INT J RADIAT ONCOL received the most citations. Paganetti Harald, 2012, PHYS MED BIOL can be classified as classic literature due to its high citation rate. We believe that research on technology development, dose calculation and relative biological effectiveness were the knowledge bases in this field. Future research hotspots may include clinical trials, flash radiotherapy, and immunotherapy.

Enhanced peroxidase-like activity of Cu-Cu2O composite film through PtPd immobilization for colorimetric glucose detection.

In this study, Cu-Cu2O/PtPd nanocomposites were synthesized and characterized for their peroxidase-like enzyme activity. X-ray diffraction and energy dispersive X-ray spectroscopy analyses confirmed the successful synthesis of the nanocomposites, which exhibited a flower-like morphology and a more uniform dispersion than Cu-Cu2O. The catalytic activity of Cu-Cu2O/PtPd was evaluated using the chromogenic substrate 3,3',5,5'-tetramethylbenzidine (TMB), finding that Cu-Cu2O/PtPd outperformed Cu-Cu2O. The optimal temperature and pH for the catalytic activity of Cu-Cu2O/PtPd were determined to be 40 °C and pH 4.0, respectively. A kinetic analysis revealed that Cu-Cu2O/PtPd followed Michaelis-Menten kinetics and exhibited a higher affinity toward TMB than the horseradish peroxidase enzyme. The catalytic mechanism of Cu-Cu2O/PtPd involved the generation of hydroxyl radicals, which facilitated the oxidation of TMB. Furthermore, the Cu-Cu2O/PtPd nanocomposite was successfully applied for the colorimetric detection of glucose, demonstrating a linear range of 8-90 µM, a detection limit of 2.389 µM, and high selectivity for glucose over other sugars.

Preparation of hydroxyapatite and its elimination of excess fluoride from aqueous solution.

Excess fluoride in aqueous solutions can significantly affect dental and bone health. This study used two methods to prepare hydroxyapatite to remove fluoride ions from water. The experiments showed that the adsorption capacity and removal rate of hydroxyapatite (Xq-HAP) prepared by the novel method were higher than for the hydroxyapatite (Yt-HAP) prepared by the conventional method. The maximum fluoride ion trapping capacity of Xq-HAP could reach 29.04 mg g-1 under the conditions of pH = 5 and an F ion concentration of 10 mg L-1. The materials were characterized by SEM, XRD, BET, XPS, and FTIR. An investigation was conducted to examine the impact of contact time, adsorbent dosage, fluoride concentration, solution pH, temperature, and several other parameters on the removal of fluoride. Adsorption equilibrium was reached in approximately 3 h at an initial fluoride concentration of 10 mg L-1. It can be seen that the adsorbent has a faster ability to trap fluoride ions. The adsorption kinetics and Langmuir isotherm indicated that fluoride ion adsorption is a monolayer chemisorption process. Further characterization and kinetic studies indicated that the removal mechanism involves ion exchange, electrostatic interactions, and complexation. After five adsorption cycles, the adsorption capacity reaches 23 mg g-1.