Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants.

OBJECTIVE: In the Asian population, SOD1 variants are the most common cause of amyotrophic lateral sclerosis (ALS). To date, more than 200 variants have been reported in SOD1. This study aimed to summarize the genotype-phenotype correlation and determine whether the patients carrying common variants derive from a common ancestor. METHODS: A total of 103 sporadic ALS (SALS) and 11 familial ALS (FALS) probands were included and variants were screened by whole exome sequencing. Functional analyses were performed on fibroblasts derived from patients with SOD1 p.V48A and control. Haplotype analysis was performed in the probands with p.H47R or p.V48A and their familial members. RESULTS: A total of 25 SOD1 variants were identified in 44 probands, in which p.H47R, p.V48A and p.C112Y variants were the most common variants. 94.3% and 60% of patients with p.H47R or p.V48A had lower limb onset with predominant lower motor neurons (LMNs) involvement. Patients with p.H47R had a slow progression and prolonged survival time, while patients with p.V48A exhibited a duration of 2-5 years. Patients with p.C112Y variant showed remarkable phenotypic variation in age at onset and disease course. SOD1V48A fibroblasts showed mutant SOD1 aggregate formation, enhanced intracellular reactive oxygen species level, and decreased mitochondrial membrane potential compared to the control fibroblast. Haplotype analysis showed that seven families had two different haplotypes. p.H47R and p.V48A variants did not originate from a common founder. CONCLUSIONS: Our study expanded the understanding of the genotype-phenotype correlation of ALS with SOD1 variants and revealed that the common p.H47R or p.V48A variant did not have a founder effect.

In our ALS cohort, 44 ALS probands were identified with 25 SOD1 variants, of which p.H47R, p.V48A and p.C112Y variants were the most frequent. The genotype­phenotype relationship of patients with SOD1 p.H47R, p.V48A and p.C112Y patients were summarized.SOD1^V48A fibroblasts showed mutant SOD1 aggregate formation, enhanced intracellular reactive oxygen species level, and decreased mitochondrial membrane potential compared to the control fibroblast.Our study expanded the understanding of the genotype­phenotype correlation of ALS with SOD1 variants and showed the common variants p.H47R or p.V48A did not have a founder effect.

Supramolecular Luminescent Copper-Nanocluster-Based Dough with Excellent Electrical Conductivity Sensing Properties.

In recent years, the rapid advancement of flexible conductive materials has significantly increased the demand for dough materials that offer high flexibility and conductivity for diverse applications. Here, we developed a flexible, stretchable, and self-healing dough utilizing hydrogen-bonding interactions between glutathione-stabilized copper nanoclusters (GSH-Cu NCs) and poly(acrylic acid) (PAA). The dough materials can be kneaded, readily reshaped, and further processed to create bulk materials of arbitrary form factors. The incorporation of PAA not only preserved the vibrant blue emission of GSH-Cu NCs but also enhanced their electrical conductivity and stretchability. The dough can be stretched up to 25 times its initial length and achieves complete self-healing in a short time. Moreover, the dough can automatically repair physical damage and return to its initial conductivity levels after healing. Surprisingly, the electrical conductivity of the dough can reach as high as 2.97 S/m, which is relatively superior compared to that of conventional conductive materials. This study presents a dough that serves as a highly sensitive strain sensor, capable of effectively monitoring human movement across a broad range of strains.

Liquid crystal-mediated self-assembly of copper nanoclusters with induced circular dichroism and amplified circularly polarized luminescence.

Elucidating the mechanism of chiral transfer is key to regulating chiral expression and generalizing the structure-property relationship of chiral functional systems. However, it is still an important challenge to select novel building blocks to achieve chiral induction, chiral transfer and chiral modulation. Liquid crystals (LCs) can be considered as promising smart soft materials due to their responsiveness and adaptability. Confining chiral metal nanoclusters (NCs) in an achiral LC phase to construct chiral LCs provides an expanded strategy for the self-assembly of chiral metal NCs in different matrices. Herein, chiral glutathione-stabilized copper NCs (G-SH-Cu NCs)/polyoxyethylene tert-octylphenyl ether (TX-100) LCs were constructed and systematically investigated. The results showed that the introduction of G-SH-Cu NCs into TX-100 LCs induced the generation of supramolecular chirality. More interestingly, the circular dichroism (CD) handedness can be controlled by changing the amount of TX-100 or G-SH-Cu NCs; when the ratio of G-SH-Cu NCs and TX-100 was proportionally matched, the strength of the noncovalent interactions was sufficient to induce chiral inversion. Meanwhile, TX-100 LCs provide effective confinement of G-SH-Cu NCs, which improves the expression of asymmetry at the aggregation level and induces a 2-fold enhancement of the circularly polarized luminescence (CPL) signal. This work realizes the spatial amplification of chirality through dopants in LCs, which provides an effective method for accurately regulating the supramolecular chirality of metal NCs in the LC phase.

Orientation selectivity mapping in the visual cortex.

The orientation map is one of the most well-studied functional maps of the visual cortex. However, results from the literature are of different qualities. Clear boundaries among different orientation domains and blurred uncertain distinctions were shown in different studies. These unclear imaging results will lead to an inaccuracy in depicting cortical structures, and the lack of consideration in experimental design will also lead to biased depictions of the cortical features. How we accurately define orientation domains will impact the entire field of research. In this study, we test how spatial frequency (SF), stimulus size, location, chromatic, and data processing methods affect the orientation functional maps (including a large area of dorsal V4, and parts of dorsal V1) acquired by intrinsic signal optical imaging. Our results indicate that, for large imaging fields, large grating stimuli with mixed SF components should be considered to acquire the orientation map. A diffusion model image enhancement based on the difference map could further improve the map quality. In addition, the similar outcomes of achromatic and chromatic gratings indicate two alternative types of afferents from LGN, pooling in V1 to generate cue-invariant orientation selectivity.

[Corrigendum] P2Y2 receptor promotes the migration and invasion of breast cancer cells via EMT­related genes Snail and E­cadherin.

Subsequently to the publication of the above paper, an interested reader drew to the authors' attention that there appeared to be two instances of overlapping data panels comparing between the cell migration and invasion assay data shown in Figs. 4 and 6 on p. 143 and 145, respectively, such that data which were intended to represent the results from differently performed experiments had apparently been derived from the same original sources. In addition, the authors themselves realized that incorrect western blotting data for Snail protein in Fig. 10A on p. 147 had been included in the figure.  The authors were able to re­examine their original data files, and realized that the affected data panels in these figures had inadvertently been incorporated into them incorrectly. The revised versions of Figs. 4, 6, and 10, featuring the correct data for the 'NC / Control' panels in Fig. 4B and C and the 'siRNA2 / ATP 12 h' panels in Fig. 4A and B, a replacement data panel for the 'siRNA1 / Control' experiment in Fig. 6, and the correct western blotting data for Snail protein in Fig. 10A (together with a revised histogram for the MCF7 cell line relating to Fig. 10A) are shown on the next three pages. The authors wish to emphasize that the errors made in compiling these figures did not affect the overall conclusions reported in the paper, and they are grateful to the Editor of Oncology Reports for allowing them the opportunity to publish this corrigendum. All the authors agree to the publication of this corrigendum, and also apologize to the readership for any inconvenience caused. [Oncology Reports 39: 138­150, 2018; DOI: 10.3892/or.2017.6081].

Broad-band-enhanced plasmonic random laser in silver nanostar arrays.

As a novel optical device, the plasmonic random laser has unique working principle and emission characteristics. However, the simultaneous enhancement of absorption and emission by plasmons is still a problem. In this paper, we propose a broad-band-enhanced plasmonic random laser. Two-dimensional silver (Ag) nanostar arrays were prepared using a bottom-up method with the assistance of self-assembled nanosphere templates. The plasmon resonance of Ag nanostars contributes to the pump light absorption and photoluminescence (PL) of RhB. Coherent random lasing was achieved in RhB@PVA film based on localized surface plasmon resonance (SPR) dual enhancement and scattering feedback of Ag nanostars. Ag nanostars prepared with different nanosphere diameters affect the laser emission wavelength. In addition, the random laser device achieves wavelength tunability on a flexible substrate under mechanical external force.

Multi-Step and Switchable Energy Transfer in Photoluminescent Organosilicone Capsules.

Light-harvesting is of vital importance for many events, such as photosynthesis. To efficiently gather and transfer solar energy, delicate antenna is needed, which has been achieved by algae and plants. However, construction of efficient light-harvesting systems using multiple, artificial building blocks is still challenging. Here, blue-emitting organosilicone capsules containing carbon dots (denoted as CDs-Si) in ethanol are prepared, which can effectively transfer energy to green-emitting (silicone-functionalized bodipy, Si-BODIPY) or red-emitting (rhodamine b, RhB) dyes. In ternary system, sequential Förster resonance energy transfer from CDs-Si to Si-BODIPY and further to RhB is realized, which is accompanied with a less pronounced, parallel FRET directly from CDs-Si to RhB. The overall efficiency of energy transfer reaches ≈86%. By introducing a photoswitch (1,2-bis(2,4-dimethyl-5-phenyl-3-thienyl)-3,3,4,4,5,5-hexafluoro-1-cyclopentene, DAE) to the system, the emission becomes switchable under alternative illumination with UV and visible light, leading to the formation of smart artificial light-harvesting systems.

Optical enhancement mode 2 improves the detection rate of gastric neoplastic lesion in high-risk populations: A multicenter randomized controlled clinical study.

OBJECTIVES: Detection of early neoplastic lesions is crucial for improving the survival rates of patients with gastric cancer. Optical enhancement mode 2 is a new image-enhanced endoscopic technique that offers bright images and can improve the visibility of neoplastic lesions. This study aimed to compare the detection of neoplastic lesions with optical enhancement mode 2 and white-light imaging (WLI) in a high-risk population. METHODS: In this prospective multicenter randomized controlled trial, patients were randomly assigned to optical enhancement mode 2 or WLI groups. Detection of suspicious neoplastic lesions during the examinations was recorded, and pathological diagnoses served as the gold standard. RESULTS: A total of 1211 and 1219 individuals were included in the optical enhancement mode 2 and WLI groups, respectively. The detection rate of neoplastic lesions was significantly higher in the optical enhancement mode 2 group (5.1% vs. 1.9%; risk ratio, 2.656 [95% confidence interval, 1.630-4.330]; p < 0.001). The detection rate of neoplastic lesions with an atrophic gastritis background was significantly higher in the optical enhancement mode 2 group (8.6% vs. 2.6%, p < 0.001). The optical enhancement mode 2 group also had a higher detection rate among endoscopists with different experiences. CONCLUSIONS: Optical enhancement mode 2 was more effective than WLI for detecting neoplastic lesions in the stomach, and can serve as a new method for screening early gastric cancer in clinical practice. CLINICAL REGISTRY: United States National Library of Medicine (https://www. CLINICALTRIALS: gov), ID: NCT040720521.

Nutritional status of the older adults in nursing homes: A cross-sectional study.

AIM AND OBJECTIVES: To investigate the nutritional status of older adults in nursing homes in Chongqing, China, compare and analyse the differences in the physical condition, cognitive function and social-related factors of older adults with different nutritional statuses. BACKGROUND: Malnurtition in the older people has become a priority concer, and the incidence and factors associated with malnutrition vary somewhat by healthcare setting. In Chongqing ,China, there is lack of research on malnutrition of the older people in nursing homes. Here, we investigated the incidence of malnutrition and analysed the associated factors. DESIGN: A cross-sectional study. METHODS: From January to April 2023, a cross-sectional survey was conducted in three nursing homes in Chongqing, China. Participants completed a series of questionnaires, including the Demographic Information Questionnaire which included age, gender, education level, previous occupation, marital status and other information. The survey also included validated non-demographic instruments [Short-Form Mini-Nutritional Assessment (MNA-SF), Barthel Index (BI) and Mini-mental State Examination (MMSE)] to identify related impact factors. The Guidelines for cross-sectional studies were used in this study (Data S1). RESULTS: 209 older adults aged 60 and over participated in this study, of whom 121 were women and 88 were men. The average (SD) age of the participants was 84.7 (6.3) years. Of the participants, 46.4% were classified as well nourished. About 39.2% were at risk of malnutrition and 14.4% were malnourished. Compared to those who were well nourished, those who were malnourished or at risk of becoming malnourished were more likely to suffer from comorbidities, polypharmacy, a higher risk of falling, ADL dependence and to receive more nutritional interventions. However, there are no significant differences after adjustment for age, education level, previous occupation, marital status, length of stay, and type of health care payment. CONCLUSION: Malnutrition is a common problem among older adults innursing homes in Chongqing, China. There are certain differences in physical conditions and nutritional interventions among older adults withdifferent nutritional status. PUBLIC CONTRIBUTION: This study suggests that the problem of malnutrition is very prominent in nursing homes in Chongqing, China. Cognitive impairment, impaired activities of daily living, fall risk and nutritional intervention need to be prevalent in older adults with (risk of) malnutrition.

Kinetically Controlled Structural Modulation of the Self-Assembled Silver Nanoclusters.

Metal nanoclusters (NCs) with atomic precision are growing into a fascinating class of building blocks for supramolecular chemistry. What makes it more interesting is the enhanced optical properties of the ordered structures, including aggregation-induced emission (AIE). However, algorithm dictating the self-assembly of metal NCs in multicomponent environment remains largely unknown, and effective means to manipulate the self-assembly is still lacking, especially under kinetic control. Herein, nanofibers which contain sub-1 nm nanowires and exhibit circularly polarized phosphorescence (CPP) are obtained from crystallization-induced self-assembly (CISA) of water-soluble, negatively charged silver NCs (Ag9 -NCs) in the presence of glutamic acid (Glu). By the introduction of a positively-charged additive (choline chloride, CC), the structure of the nanowires is modulated and the lateral interaction between adjacent nanofibers is adjusted, leading to simultaneous improvement of the phosphorescence and chirality which finally enhances CPP. Importantly, changing the time at which CC is introduced altered the kinetic pathway of the CISA, which enables to effectively manipulate both the final structures of the self-assembled Ag9 -NCs and the output of the optical signals.

Self-Assembly of Atomically Precise Silver Nanoclusters in Crowded Colloids into Ultra-Long Ribbons with Tunable Supramolecular Chirality.

Atomically precise metal nanoclusters (NCs) emerge as fascinating synthons in self-assembled materials. The self-assembly of metal NCs are highly sensitive to the environment because they have an inorganic-organic hybridized structure and a relatively complicated conformation. Here, it is shown that when confined in crowded colloids, a water-soluble Ag9 -cored nanocluster (Ag9 -NC) can self- assemble into ultra-long (up to millimeters) and photoluminescent ribbons with high flexibility. The ribbon contains rectangularly organized columns of Ag9 -NCs and can undergo secondary self-assembly to form bundled and branched structures. Formation of ribbons is observed in all the tested colloids, including lyotropic liquid crystals and disordered, three-dimensional network. The high viscosity/elasticity of the crowded colloids weakens gravity-induced sedimentation of the ribbons, leading to the formation of an interesting class of inorganic-organic composite materials where the hard Ag-containing skeleton strengthens the soft matter. The simultaneously occurring symmetry breaking during the self-assembly of Ag9 -NCs gives uncontrolled supramolecular chirality, which can be tuned through the majority rule and soldier-and-sergeant rule by the introduction of chiral seeds. The regulated chirality and the intrinsic photoluminescence of the Ag9 -NCs ribbons impart the composite material circularly polarized luminescence, opening the door for a variety of potential applications.

[Neuropsychological development of large for gestational age infants at the age of 12 months]. / 大于胎龄儿12æœˆé¾„ç¥žç»å¿ƒç†å‘è‚²çŠ¶å†µç ”ç©¶.

OBJECTIVES: To investigate the level of neuropsychological development in large for gestational age (LGA) infants at the age of 12 months. METHODS: The infants, aged 12 to <13 months, who attended the Outpatient Service of Child Care in the First Affiliated Hospital of Shandong First Medical University from December 2021 to June 2023, were enrolled as subjects. According to the gestational age and birth weight, they were divided into preterm appropriate for gestational age (AGA) group, preterm LGA group, early term AGA group, early term LGA group, full-term AGA group, and full-term LGA group. A modified Poisson regression analysis was used to investigate the association between LGA and neuropsychological development outcome at 12 months of age. RESULTS: After adjustment for confounding factors, compared with the full-term AGA group at the age of 12 months, the full-term LGA group had a significant increase in the risk of language deficit (RR=1.364, 95%CI: 1.063-1.750), the early term LGA group had significant increases in the risk of abnormal gross motor, fine motor, language, and the preterm LGA group had significant increases in the risk of abnormal language, social behavior, and total developmental quotient (P<0.05); also, the early term AGA group had higher risks of developmental delay across all five attributes and in total developmental quotient at the age of 12 months (P<0.05); except for the language attribute, the preterm AGA group had higher risks of developmental delay in the other 4 attributes (P<0.05). CONCLUSIONS: The neuropsychological development of LGA infants with different gestational ages lags behind that of full-term AGA infants at 12 months of age, and follow-up and early intervention of such infants should be taken seriously in clinical practice.

Patient satisfaction with humanistic nursing in Chinese secondary and tertiary public hospitals: a cross-sectional survey.

Background: Humanistic care pertains to the abilities, attitudes, and behaviors central to patient-centered care, contributing to patients' sense of safety and wellbeing. This study aimed to assess the satisfaction of patients with humanistic nursing care in Chinese secondary and tertiary public hospitals. Methods: A national cross-sectional survey was conducted across 30 provinces and 83 hospitals in China. Patient satisfaction with humanistic care was assessed using the Methodist Health Care System Nurse Caring Instrument (NCI), which encompasses 20 items across 12 dimensions. Each item was rated on a 7-point Likert scale, yielding a total score of 140. Multiple linear regression analysis was employed to identify factors associated with patients' satisfaction. Results: Moderate satisfaction (mean score 91.26 ± 13.14) with humanistic nursing care was observed among the 17,593 participants. Factors significantly associated with patient satisfaction included age, hospital type, presence of children, educational attainment, place of residence, family monthly income, and medical insurance type. Conclusion: The study findings highlight the importance of tailored interventions, evidence-based practice guidelines, and patient-centered care in improving patients' satisfaction with humanistic nursing care. Continuous emphasis on nursing education and professional development is crucial for enhancing humanistic care and patient satisfaction.

[Advances in cardiovascular protection effects and mechanisms of allicin].

Cardiovascular diseases(CVD) with high morbidity and mortality pose severe threats to human life. Allicin, a main active ingredient of garlic, possesses multiple pharmaceutical activities. It not only exerts cardioprotective effects but also prevents the risk factors for CVD. Allicin exerts cardioprotective effects via a variety of mechanisms, including inhibiting oxidative stress, apoptosis, autophagy, and inflammatory responses, regulating lipid metabolism and gut microbiota, inducing hydrogen sulfide production, and dilating vessels. Despite the valuable cardioprotective effects, the instability of allicin has hindered the basic research and clinical application. This paper reviews the progress in the cardioprotective effects and mechanisms of allicin in the last decade and summarizes the methods to improve the stability of allicin. In addition, this review provides a reference for further research and development of allicin in cardiovascular protection.

Endoscopic and surgical treatment of jejunal gallstone ileus caused by cholecystoduodenal fistula: A case report.

BACKGROUND: Gallstone ileus is a rare complication of gallstone disease in which a stone enters the enteric lumen and causes mechanical obstruction usually by bilioenteric fistula. Gallstone ileus accounts for 25% of all bowel obstructions among the population > 65 years of age. Despite medical advances over the last decades, gallstone ileus is still associated with high rates of morbidity and mortality. CASE SUMMARY: An 89-year-old man with a history of gallstones was admitted to the Gastroenterology Department of our hospital, complaining of vomiting and cessation of bowel movements and flatus. Abdominal computed tomography showed cholecystoduodenal fistula and upper jejunum obstruction due to gallstones, pneumatosis in the gallbladder, and pneumobilia indicating Rigler's triad. Considering the high risk of surgical management, we performed propulsive enteroscopy and laser lithotripsy twice to relieve the bowel occlusion. However, the intestinal obstruction was not relieved by the less invasive procedure. Then, the patient was transferred to the Department of Biliary-pancreatic Surgery. The patient underwent the one-stage procedure including laparoscopic duodenoplasty (fistula closure), cholecystectomy, enterolithotomy, and repair. After surgery, the patient presented with complications of acute renal failure, postoperative leak, acute diffuse peritonitis, septicopyemia, septic shock, and multiple organ failure, and finally died. CONCLUSION: Early surgical intervention is the mainstay of treatment for gallstone ileus. For elderly patients with significant comorbidities, enterolithotomy alone is advised.

Effects of OsAOX1a Deficiency on Mitochondrial Metabolism at Critical Node of Seed Viability in Rice.

Mitochondrial alternative oxidase 1a (AOX1a) plays an extremely important role in the critical node of seed viability during storage. However, the regulatory mechanism is still poorly understood. The aim of this study was to identify the regulatory mechanisms by comparing OsAOX1a-RNAi and wild-type (WT) rice seed during artificial aging treatment. Weight gain and time for the seed germination percentage decreased to 50% (P50) in OsAOX1a-RNAi rice seed, indicating possible impairment in seed development and storability. Compared to WT seeds at 100%, 90%, 80%, and 70% germination, the NADH- and succinate-dependent O2 consumption, the activity of mitochondrial malate dehydrogenase, and ATP contents all decreased in the OsAOX1a-RNAi seeds, indicating that mitochondrial status in the OsAOX1a-RNAi seeds after imbibition was weaker than in the WT seeds. In addition, the reduction in the abundance of Complex I subunits showed that the capacity of the mitochondrial electron transfer chain was significantly inhibited in the OsAOX1a-RNAi seeds at the critical node of seed viability. The results indicate that ATP production was impaired in the OsAOX1a-RNAi seeds during aging. Therefore, we conclude that mitochondrial metabolism and alternative pathways were severely inhibited in the OsAOX1a-RNAi seeds at critical node of viability, which could accelerate the collapse of seed viability. The precise regulatory mechanism of the alternative pathway at the critical node of viability needs to be further analyzed. This finding might provide the basis for developing monitoring and warning indicators when seed viability declines to the critical node during storage.

Novel risk-factor analysis and risk-evaluation model of falls in patients receiving maintenance hemodialysis.

This study investigated the prevalence of falls in maintenance hemodialysis (MHD) patients, and established a nomogram model for evaluating the fall risk of MHD patients. This study enrolled 303 MHD patients from the dialysis department of a tertiary hospital in July 2021. The general data of the participants, as well as the scores on the FRAIL scale, Sarcopenia Screening Questionnaire (SARC-F), Short Physical Performance Battery (SPPB) Scale, and of anxiety and depression, and the occurrence of falls were recorded. Using R language, data were assigned to the training set (n = 212) and test set (n = 91), and a logistic regression model was established. The regression model was verified by the receiver operating characteristic (ROC) curve, area under the curve (AUC), and the calibration curve. As a result, the prevalence of falls in MHD patients was 20.46%. Risk factors for falls in the optimal multivariate logistic regression model included hearing impairment, the depression score, and the SPPB score, of which a higher depression score (odds ratio (OR): 1.28, 95% confidence interval (CI): 1.09-1.49, p = 0.002) and SPPB ≤ 6 (ORvsSPPB9-12: 3.69, 95% CI: 1.04-13.14, p = 0.043) conferred independent risk for falls. AUC of the nomogram in the training was 0.773, which in the test group was 0.663. The calibration and standard curves were fitted closely, indicated that the evaluation ability of the model was good. Thus, a higher depression score and SPPB ≤ 6 are independent risk factors for falls in MHD patients, and the nomogram with good accuracy and discrimination that was established in this study has clinical application value.

Trans-Reflective Structural Color Filters Assisting Multifunctional-Integrated Semitransparent Photovoltaic Window.

Multifunction-integrated semitransparent organic photovoltaic cells (STOPVs), with high power generation, colorful transmittance/reflectance, excellent ultraviolet (UV) protection, and thermal insulation, are fully in line with the concept of architectural aesthetics and photoprotection characteristics for building-integrated photovoltaic-window. For the indelible rainbow color photovoltaic window, one crucial issue is to realize the integration of these photons- and photoelectric-related multifunction. Herein, dynamic transmissive and reflective structural color controllable filters, with asymmetrical metal-insulator-metal (MIM) configurations (20 nm-Ag-HATCN-30 nm-Ag) through machine learning, are deliberately designed for colorful STOPV devices. This endows the resultant integrated devices with ≈5% enhanced power conversion efficiency (PCE) than the bare-STOPVs, gifted UV (300-400 nm) blocking rates as high as 93.5, 94.1, 90.2, and 94.5%, as well as a superior infrared radiation (IR) (700-1400 nm) rejection approaching 100% for transparent purple-, blue-, green- and red-STOPV cells, respectively. Most importantly, benefiting from the photonic recycling effect beyond microcavity resonance wavelength, a reported quantum utilization efficiency (QUE) as high as 80%, is first presented for the transparent-green-STOPVs with an ultra-narrow bandgap of 1.2 eV. These asymmetrical Febry-Pérot transmissive and reflective structural color filters can also be extended to silicon- and perovskite-based optoelectric devices and make it possible to integrate additional target optical functions for multi-purpose optoelectric devices.

Pathogenicity classification of SOD1 variants of uncertain significance by in vitro aggregation propensity.

Deposition of insoluble SOD1 aggregates in motor neurons is the hallmark of SOD1-associated ALS. Mutant SOD1 protein promotes structural instability that leads to misfolded SOD1 protein aggregates, which can be recapitulated in vitro. Therefore, aggregation propensity in cell lines can be a reliable indicator for the pathogenicity classification of SOD1 variants. Herein, we performed in vitro experiment to classify the pathogenicity of 34 SOD1 variants of uncertain significance (VUS) from 215 variants reported previously. The clinical features of 234 ALS patients with 31 SOD1 likely pathogenic (LP) variants were summarized. 31 VUS variants formed aggregates spontaneously, indicating LP variants. Missense variants were mainly located in the C-terminal of SOD1. Among patients with 31 SOD1 LP variants, 75% of patients had lower limb onset. The onset of familial ALS patients (45.7±14.0 years) is earlier than sporadic ALS patients (50.6±13.1 years). Our results expand the spectrum of SOD1 mutations and highlight the natural history of SOD1-positive ALS patients for further clinical trials in SOD1-related ALS.