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BACKGROUND: Prader-Willi syndrome (PWS) is a rare multisystemic hereditary illness. Recombinant human growth hormone (rhGH) therapy is widely recognized as the primary treatment for PWS. This study aimed to examine how different PWS genotypes influence the outcome of rhGH treatment in children with PWS. METHODS: A review was conducted on 146 Chinese children with PWS, genetically classified and monitored from 2017 to 2022. Unaltered and modified generalized estimating equations (GEE) were employed to examine the long-term patterns in primary outcomes (growth metrics) and secondary outcomes (glucose metabolism metrics and insulin-like growth factor-1 (IGF-1)) during rhGH therapy. The study also evaluated the prevalence of hypothyroidism, hip dysplasia, and scoliosis before and after rhGH treatment. RESULTS: Children with PWS experienced an increase in height/length standard deviation scores (SDS) following rhGH administration. The impact of rhGH therapy on growth measurements was similar in both the deletion and maternal uniparental diploidy (mUPD) cohorts. Nevertheless, the deletion group was more prone to insulin resistance (IR) compared to the mUPD group. No significant variations in growth metrics were noted between the two groups (P > 0.05). At year 2.25, the mUPD group showed a reduction in fasting insulin (FINS) levels of 2.14 uIU/ml (95% CI, -4.26, -0.02; P = 0.048) and a decrease in homeostasis model assessment of insulin resistance (HOMA-IR) of 0.85 (95% CI, -1.52, -0.17; P = 0.014) compared to the deletion group. Furthermore, there was a decrease in the IGF standard deviation scores (SDS) by 2.84 (95% CI, -4.84, -0.84; P = 0.005) in the mUPD group during the second year. The frequency of hip dysplasia was higher in the mUPD group compared to the deletion group (P < 0.05). CONCLUSIONS: rhGH treatment effectively increased height/length SDS in children with PWS, with similar effects observed in both deletion and mUPD genotypes. Children with mUPD genetype receiving rhGH treatment may experience enhanced therapeutic effects in managing PWS.

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Adaptive interpretable ensemble model based on three-dimensional Convolutional Neural Network (3DCNN) and Genetic Algorithm (GA), i.e., 3DCNN+EL+GA, was proposed to differentiate the subjects with Alzheimer's Disease (AD) or Mild Cognitive Impairment (MCI) and further identify the discriminative brain regions significantly contributing to the classifications in a data-driven way. Plus, the discriminative brain sub-regions at a voxel level were further located in these achieved brain regions, with a gradient-based attribution method designed for CNN. Besides disclosing the discriminative brain sub-regions, the testing results on the datasets from the Alzheimer's Disease Neuroimaging Initiative (ADNI) and the Open Access Series of Imaging Studies (OASIS) indicated that 3DCNN+EL+GA outperformed other state-of-the-art deep learning algorithms and that the achieved discriminative brain regions (e.g., the rostral hippocampus, caudal hippocampus, and medial amygdala) were linked to emotion, memory, language, and other essential brain functions impaired early in the AD process. Future research is needed to examine the generalizability of the proposed method and ideas to discern discriminative brain regions for other brain disorders, such as severe depression, schizophrenia, autism, and cerebrovascular diseases, using neuroimaging.

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A new class of carbene-anilido boron complexes have been designed and synthesized. The complexes show intense fluorescence with large Stokes shift because of their charge-transfer excited states, different from typical BODIPY dyes. By using a chiral 1,1'-bi(2-naphthol) ligand, dyes exhibiting circularly polarized luminescence can also be facilely developed.

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Introduction: High-resolution whole-heart coronary magnetic resonance angiography (CMRA) often suffers from unreasonably long scan times, rendering imaging acceleration highly desirable. Traditional reconstruction methods used in CMRA rely on either hand-crafted priors or supervised learning models. Although the latter often yield superior reconstruction quality, they require a large amount of training data and memory resources, and may encounter generalization issues when dealing with out-of-distribution datasets. Methods: To address these challenges, we introduce an unsupervised reconstruction method that combines deep image prior (DIP) with compressed sensing (CS) to accelerate 3D CMRA. This method incorporates a slice-by-slice DIP reconstruction and 3D total variation (TV) regularization, enabling high-quality reconstruction under a significant acceleration while enforcing continuity in the slice direction. We evaluated our method by comparing it to iterative SENSE, CS-TV, CS-wavelet, and other DIP-based variants, using both retrospectively and prospectively undersampled datasets. Results: The results demonstrate the superiority of our 3D DIP-CS approach, which improved the reconstruction accuracy relative to the other approaches across both datasets. Ablation studies further reveal the benefits of combining DIP with 3D TV regularization, which leads to significant improvements of image quality over pure DIP-based methods. Evaluation of vessel sharpness and image quality scores shows that DIP-CS improves the quality of reformatted coronary arteries. Discussion: The proposed method enables scan-specific reconstruction of high-quality 3D CMRA from a five-minute acquisition, without relying on fully-sampled training data or placing a heavy burden on memory resources.

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OBJECTIVE: The aim of this study is to evaluate the significance of combined detection of Septin9 and syndecan-2 (SDC2) methylation markers and serum tumor markers for the early diagnosis of colorectal cancer. METHODS: A total of 116 patients diagnosed with colorectal cancer between December 2022 and February 2024 were designated as the colorectal cancer group. Additionally, 31 patients with colorectal adenoma were assigned to the adenoma group, while 44 individuals undergoing routine physical examinations were included in the control group. Concentrations of Septin9, SDC2, fecal occult blood (FOB), and four tumor markers-carcinoembryonic antigen (CEA), carbohydrate antigen 199 (CA199), carbohydrate antigen 125 (CA125), and carbohydrate antigen 724 (CA724)-were measured. Diagnostic performance was assessed using receiver operating characteristic (ROC) curves for Septin9, SDC2, the four tumor markers, FOB, the combination of Septin9 and SDC2, and the combined use of all seven indicators (CEA, CA19-9, CA125, CA72-4, FOB, Septin9, and SDC2). RESULTS: The colorectal cancer group exhibited the highest positive rates for Septin9, SDC2, the four tumor markers, the combined detection of Septin9 and SDC2, and the combined detection of all seven indicators, compared to both the adenoma and control groups (P < 0.05). The adenoma group also showed higher positive rates than the control group (P < 0.05). For patients with stage I-III colorectal cancer, the positive rates for the combined detection of Septin9 and SDC2 were 81.3%, 78.9%, and 90.2%, respectively, surpassing those for the combined detection of the four tumor markers (43.8%, 55.3%, and 61.0%). Additionally, the positive rates for the two-gene combination in stage III colorectal cancer were higher than those for FOB (P < 0.05). The sensitivity and area under the curve (AUC) for SDC2 were 73.3% and 0.855, respectively, exceeding the sensitivity and AUC for the combined four tumor markers, which were 60.3% and 0.734 (P < 0.05). The combined detection of the two methylated genes demonstrated a sensitivity of 86.2% and an AUC of 0.908, outperforming both FOB and the combined detection of the four tumor markers (P < 0.05). CONCLUSION: The detection of SDC2 exhibits high sensitivity for colorectal cancer, and when combined with Septin9, it significantly enhances the diagnostic accuracy for early-stage colorectal cancer, offering substantial clinical value.

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OBJECTIVES: Magnetic resonance imaging (MRI) is a critical noninvasive technique for evaluating liver steatosis, with efficient and precise fat quantification being essential for diagnosing liver diseases. This study leverages 5 T ultra-high-field MRI to demonstrate the clinical significance of liver fat quantification, and explores the consistency and accuracy of the Proton Density Fat Fraction (PDFF) in the liver across different magnetic field strengths and measurement methodologies. METHODS: The study involved phantoms with lipid contents ranging from 0 % to 30 % and 35 participants (21 females, 14 males; average age 30.17 ± 13.98 years, body mass index 25.84 ± 4.76, waist-hip ratio 0.84 ± 0.09). PDFF measurements were conducted using chemical shift encoded (CSE) MRI at 5 T, 3 T, and 1.5 T, alongside magnetic resonance spectroscopy (MRS) at 5 T and 1.5 T for both liver and phantoms, analyzed using jMRUI software. The MRS-derived PDFF values served as the reference standard. Repeatability of 5 T MRI measurements was assessed through correlation analysis, while accuracy was evaluated using linear regression analysis against the reference standards. RESULTS: The CSE-PDFF measurements at 5 T demonstrated strong consistency with those at 3 T and 1.5 T, showing high intraclass correlation coefficients (ICC) of 0.988 and 0.980, respectively (all p < 0.001). There was also significant consistency across ROIs within liver lobes, with ICC values ranging from 0.975 to 0.986 (all p < 0.001). MRS-PDFF measurements for both phantoms and liver at 5 T and 1.5 T exhibited substantial agreement, with ICC values of 0.996 and 0.980, respectively (all p < 0.001). Particularly, ICC values for ROIs in the liver ranged from 0.963 to 0.990 (all p < 0.001). Despite overall agreement, statistically significant differences were noted in specific ROIs within the liver lobes (p = 0.004 and 0.012). The CSE and MRS PDFF measurements at 5 T displayed strong consistency, with an ICC of 0.988 (p < 0.001), and significant agreement was also found between 5 T CSE and 1.5 T MRS PDFF measurements, with an ICC of 0.978 (p < 0.001). Agreement was significant within the ROIs of the liver lobes on the same platform at 5 T, with ICC values ranging from 0.986 to 0.991 (all p < 0.001). CONCLUSION: PDFF measurements at 5 T MR imaging exhibited both accuracy and repeatability, indicating that 5 T imaging provides reliable quantification of liver fat content and shows substantial potential for clinical diagnostic applications.

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Due to the expanding applications of icosahedral carboranes in medicinal and materials chemistry research, their functionalizations have become one of the central themes in boron-rich cluster chemistry. Although several strategies for incorporating nitrogen-containing nucleophiles on a single boron vertex of the icosahedral carboranes (C2B10H12) have been developed, methods for preparing clusters with vicinal B-N moieties are still lacking. The steric bulk of icosahedral carboranes and disparate electronic and steric nature of the N-containing groups have rendered the vicinal diamination challenging. In this article, we show how a developed Pd-catalyzed process is used to incorporate an array of NH-heterocycles, anilines, and heteroanilines with various electronic and steric profiles onto the vicinal boron vertices of a meta-carborane cluster via sequential or one-pot fashion. Importantly, oxidative cyclizations of the cross-coupling products with indoles and pyrroles appended to boron vertices generate a previously unknown class of all-boron-vertex bound carborane-fused six- and seven-membered ring heterocycles. Photophysical studies of the meta-carborane-fused heterocycles show that these structures can exhibit luminescence with high quantum yields and are amenable to further manipulations.

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BACKGROUND: Maternal uniparental disomy for chromosome 6 (upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat) has been previously reported to cause intrauterine growth restriction (IUGR), but the specific clinical phenotype has not been defined. Based on clinical data from two new cases and patients from the literature, specific phenotypes and mechanisms will be discussed further. CASE PRESENTATION: In case 1, a maternal isodisomy mixed with a heterodisomy was found on chromosome 6, including a regional absence of heterozygosity between 6q23.3 and 6q27. In case 2, a homozygous SCUBE3 mutation and upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat, involving the 6p21.1-25.1 region were found. Clinical data related to upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat were also reviewed. Of all the 21 reported cases with upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat (including our 2 cases), 18 (85.7%) presented IUGR. CONCLUSIONS: The phenotypes of the two newly identified patients with upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat further suggest that IUGR is associated with upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat and case 2 is the first reported upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat patient with a homozygous SCUBE3 gene mutation. However, the specific phenotypes involved in upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat and the related mechanisms need to be further studied.

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RATIONALE AND OBJECTIVES: To investigate the diagnostic performance of water-specific T1 mapping for staging liver fibrosis in a non-alcoholic fatty liver disease (NAFLD) rabbit model, in comparison to Modified Look-Locker Inversion recovery (MOLLI) T1 mapping. MATERIALS AND METHODS: 60 rabbits were randomly divided into the control group (12 rabbits) and NAFLD model groups (eight rabbits per subgroup) corresponding to different durations of high-fat high cholesterol diet feeding. All rabbits underwent MRI examination including MOLLI T1 mapping and 3D multi-echo variable flip angle (VFAME- GRE) sequences were acquired before and 20 min after the administration of Gd- EOB-DTPA. Histological assessments were performed to evaluate steatosis, inflammation, ballooning, and fibrosis. Statistical analysis included the intraclass correlation coefficient, analysis of variance, spearman correlation, multiple linear regression, and receiver operating characteristic curve. RESULTS: A moderate correlation was observed between conventional native T1 and MRI-PDFF (r = -0.513, P < 0.001), as well as between conventional native T1 and liver steatosis grades (r = -0.319, P = 0.016). However, no significant correlation was found between the native wT1 and PDFF (r = 0.137, P = 0.314), or between the native wT1 and steatosis grades (r = 0.106, P = 0.435). In the multiple regression analysis, liver fibrosis, and hepatocellular ballooning were identified as independent factors influencing native wT1 in this study (R2 =0.545, P < 0.05), while steatosis was independently associated with conventional native T1 (R2 =0.321, P < 0.05). The AUC values for native T1, native wT1, HBP T1, and HBP wT1 were 0.549(0.410-0.682), 0.811(0.684-0.903), 0.775(0.644-0.876), and 0.752(0.619-0.858) for F1 or higher, 0.581(0.441-0.711), 0.828(0.704-0.916), 0.832(0.708-0.919), and 0.854(0.734-0.934) for F2 or higher, respectively. CONCLUSION: The native wT1 may provide a more reliable assessment of early liver fibrosis in the context of NAFLD compared to conventional native T1.

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BACKGROUND: Restriction spectrum imaging (RSI), as an advanced quantitative diffusion-weighted magnetic resonance imaging technique, has the potential to distinguish primary benign and malignant lung lesions. OBJECTIVE: To explore how well the tri-compartmental RSI performs in distinguishing primary benign from malignant lung lesions compared with diffusion-weighted imaging (DWI), and to further explore whether positron emission tomography/magnetic resonance imaging (PET/MRI) can improve diagnostic efficacy. STUDY TYPE: Prospective. POPULATION: 137 patients, including 108 malignant and 29 benign lesions (85 males, 52 females; average age = 60.0 ± 10.0 years). FIELD STRENGTH/SEQUENCE: T2WI, T1WI, multi-b value DWI, MR-based attenuation correction, and PET imaging on a 3.0 T whole-body PET/MR system. ASSESSMENT: The apparent diffusion coefficient (ADC), RSI-derived parameters (restricted diffusion f 1 $$ {f}_1 $$ , hindered diffusion f 2 $$ {f}_2 $$ , and free diffusion f 3 $$ {f}_3 $$ ) and the maximum standardized uptake value (SUVmax) were calculated and analyzed for diagnostic efficacy individually or in combination. STATISTICAL TESTS: Student's t-test, Mann-Whitney U test, receiver operating characteristic (ROC) curves, Delong test, Spearman's correlation analysis. P < 0.05 was considered statistically significant. RESULTS: The f 1 $$ {f}_1 $$ , SUVmax were significantly higher, and f 3 $$ {f}_3 $$ , ADC were significantly lower in the malignant group [0.717 ± 0.131, 9.125 (5.753, 13.058), 0.194 ± 0.099, 1.240 (0.972, 1.407)] compared to the benign group [0.504 ± 0.236, 3.390 (1.673, 6.030), 0.398 ± 0.195, 1.485 ± 0.382]. The area under the ROC curve (AUC) values ranked from highest to lowest as follows: AUC (SUVmax) > AUC ( f 3 $$ {f}_3 $$ ) > AUC ( f 1 $$ {f}_1 $$ ) > AUC (ADC) > AUC ( f 2 $$ {f}_2 $$ ) (AUC = 0.819, 0.811, 0.770, 0.745, 0549). The AUC (AUC = 0.900) of the combined model of RSI with PET was significantly higher than that of either single-modality imaging. CONCLUSION: RSI-derived parameters ( f 1 $$ {f}_1 $$ , f 3 $$ {f}_3 $$ ) might help to distinguish primary benign and malignant lung lesions and the discriminatory utility of f 2 $$ {f}_2 $$ was not observed. The RSI exhibits comparable or potentially enhanced performance compared with DWI, and the combined RSI and PET model might improve diagnostic efficacy. TECHNICAL EFFICACY: Stage 2.

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Quasi-two-dimensional perovskite has been widely used in blue perovskite light-emitting diodes. However, the performance of these devices is still hampered by random phase distribution, nonradiative recombination, and imbalanced carrier transport. In this work, an effective strategy is proposed to mitigate these limitations by inserting lithium salts at the interfaces between the hole transport layer (HTL) and the perovskite layer. The perovskite film on the inserted Li2CO3 layer exhibits reasonable n-value redistribution, which leads to the repressive nonradiation recombination and enhanced carrier transport. Moreover, the inserted Li2CO3 layer also improves the electrical conductivity of PEDOT:PSS and hinders indium ion diffusion from the PEDOT:PSS layer to the perovskite film, which inhibits exciton quenching and nonradiative recombination loss at the HTL/perovskite interface. Taking advantage of these merits, we have successfully fabricated efficient pure-blue PeLEDs with an external quantum efficiency of 6.2% at 472 nm and a luminance of 726 cd cm-2. The restraint of nonradiative recombination at the interface offers a promising approach for efficient pure-blue PeLEDs.

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Abstract: Subclinical hypothyroidism (SCH) is closely related to insulin resistance, and thyroid-stimulating hormone (TSH) level is an independent factor for insulin resistance associated with subclinical hypothyroidism. This study aims to explore the effects of TSH levels on insulin signal transduction in adipocytes and to establish the role of endoplasmic reticulum (ER) stress in this process. In this study, the SCH mouse model was established, and 3T3-L1 adipocytes were treated with TSH or tunicamycin (TM), with or without 4-phenylbutyric acid (4-PBA), an inhibitor of ER stress. Subclinical hypothyroidism mice exhibited impaired glucose tolerance, inactivation of the IRS-1/AKT pathway, and activation of the IRE1/JNK pathway in adipose tissue, which can all be alleviated by 4-PBA. Supplementation with levothyroxine restored the TSH to normal, alongside alleviated ER stress and insulin resistance in SCH mice, which is characterized by improved glucose tolerance, decreased mRNA expression of IRE1, and decreased phosphorylation of JNK in adipose tissue. In 3T3-L1 adipocytes, TSH induces insulin resistance, leading to a decrease in glucose uptake. This effect is mediated by the downregulation of IRS-1 tyrosine phosphorylation, reduced AKT phosphorylation, and inhibited GLUT4 protein expression. Notably, all these effects can be effectively reversed by 4-PBA. Moreover, TSH induced TNF-α and IL-6 production and upregulated the expression of ER stress markers. Similarly, these changes can be recovered by 4-PBA. These findings indicate that TSH has the capability to induce insulin resistance in adipocytes. The mechanism through which TSH disrupts insulin signal transduction appears to involve the ER stress-JNK pathway.

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DNA-based data storage is a new technology in computational and synthetic biology, that offers a solution for long-term, high-density data archiving. Given the critical importance of medical data in advancing human health, there is a growing interest in developing an effective medical data storage system based on DNA. Data integrity, accuracy, reliability, and efficient retrieval are all significant concerns. Therefore, this study proposes an Effective DNA Storage (EDS) approach for archiving medical MRI data. The EDS approach incorporates three key components (i) a novel fraction strategy to address the critical issue of rotating encoding, which often leads to data loss due to single base error propagation; (ii) a novel rule-based quaternary transcoding method that satisfies bio-constraints and ensure reliable mapping; and (iii) an indexing technique designed to simplify random search and access. The effectiveness of this approach is validated through computer simulations and biological experiments, confirming its practicality. The EDS approach outperforms existing methods, providing superior control over bio-constraints and reducing computational time. The results and code provided in this study open new avenues for practical DNA storage of medical MRI data, offering promising prospects for the future of medical data archiving and retrieval.

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Mucopolysaccharidoses (MPSs) are caused by a deficiency in the enzymes needed to degrade glycosaminoglycans (GAGs) in the lysosome. The storage of GAGs leads to the involvement of several systems and even to the death of the patient. In recent years, an increasing number of therapies have increased the treatment options available to patients. Early treatment is beneficial in improving the prognosis, but children with MPSs are often delayed in their diagnosis. Therefore, there is an urgent need to develop a method for early screening and diagnosis of the disease. Tandem mass spectrometry (MS/MS) is an analytical method that can detect multiple substrates or enzymes simultaneously. GAGs are reliable markers of MPSs. MS/MS can be used to screen children at an early stage of the disease, to improve prognosis by treating them before symptoms appear, to evaluate the effectiveness of treatment, and for metabolomic analysis or to find suitable biomarkers. In the future, MS/MS could be used to further identify suitable biomarkers for MPSs for early diagnosis and to detect efficacy.

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Sodium (Na) super ion conductor (NASICON) structure Na3MnTi(PO4)3 (NMTP) is considered a promising cathode for sodium-ion batteries due to its reversible three-electron reaction. However, the inferior electronic conductivity and sluggish reaction kinetics limit its practical applications. Herein, we successfully constructed a three-dimensional cross-linked porous architecture NMTP material (AsN@NMTP/C) by a natural microbe of Aspergillus niger (AsN), and the structure of different NMTP cathodes was optimized by adjusting different transition metal Mn/Ti ratios. Both approaches effectively altered the three-dimensional NMTP structure, not only improving electronic conductivity and controlling Na+ diffusion pathways but also enhancing the electrochemical kinetics of the material. The resultant AsN@NMTP/C-650, sintered at 650 °C, exhibits better electrochemical performance with higher reversible three-electron reactions corresponding to the voltage platforms of Ti4+/3+, Mn3+/2+, and Mn4+/3+ around 2.1, 3.6, and 4.1 V (vs Na+/Na), respectively. The capacity retention rate is up to 89.3% after 1000 cycles at a 2C rate. Moreover, a series of results confirms that the Na3.4Mn1.2Ti0.8(PO4)3 cathode has the most excellent electrochemical performance when the Mn/Ti ratio is 1.2/0.8, with a high capacity of 96.59 mAh g-1 and 97.1% capacity retention after 500 cycles.

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OBJECTIVE: To characterize the phenotype spectrum, diagnosis, and response to growth-promoting therapy in patients with ACAN variants causing familial short stature. METHODS: Three families with ACAN variants causing short stature were reported. Similar cases in the literature were summarized, and the genotype and phenotype were analyzed. RESULTS: Three novel heterozygous variants, c.757+1G>A, (splicing), c.6229delG, p.(Asp2078Tfs*1), and c.6679C>T, p.(Gln2227*) in the ACAN gene were identified. A total of 314 individuals with heterozygous variants from 105 families and 8 individuals with homozygous variants from 4 families were confirmed to have ACAN variants from literature and our 3 cases. Including our 3 cases, the variants reported comprised 33 frameshift, 39 missense, 23 nonsense, 5 splicing, 4 deletion, and 1 translocation variants. Variation points are scattered throughout the gene, while exons 12, 15, and 10 were most common (25/105, 11/105, and 10/105, respectively). Some identical variants existing in different families could be hot variants, c.532A>T, p.(Asn178Tyr), c.1411C>T, p.(Gln471*), c.1608C>A, p.(Tyr536*), c.2026+1G>A, (splicing), and c.7276G>T, p.(Glu2426*). Short stature, early-onset osteoarthritis, brachydactyly, midfacial hypoplasia, and early growth cessation were the common phenotypic features. The 48 children who received rhGH (and GnRHa) treatment had a significant height improvement compared with before (-2.18 ± 1.06 SD vs. -2.69 ± 0.95 SD, p < 0.001). The heights of children who received rhGH (and GnRHa) treatment were significantly improved compared with those of untreated adults (-2.20 ± 1.10 SD vs. -3.24 ± 1.14 SD, p < 0.001). CONCLUSION: Our study achieves a new understanding of the phenotypic spectrum, diagnosis, and management of individuals with ACAN variants. No clear genotype-phenotype relationship of patients with ACAN variants was found. Gene sequencing is necessary to diagnose ACAN variants that cause short stature. In general, appropriate rhGH and/or GnRHa therapy can improve the adult height of affected pediatric patients caused by ACAN variants.

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Electrification of bus fleets is an effective approach to reducing transportation-related pollution and carbon emissions. Evaluating the impact of electrification on existing bus fleets can provide valuable insights for promoting full electrification of public transportation in large cities. Utilizing the fuel life cycle method, we analyzed the CO2 and pollutant emissions of Zhengzhou's bus fleet before and after electrification and evaluated emissions under different electrification scenarios. Our results indicated that after electrification, the fuel life cycle CO2 and PM2.5 emissions increased by 32.6% and 42.6%, respectively, whereas CO, NOx, and VOC emissions decreased by 28%, 34%, and 25%, respectively. Optimizing the power generation structure is a critical factor in reducing CO2 and PM2.5 emissions during the electrification process. The best scenario for comprehensive electrification and power generation structure optimization could result in a 38.7% reduction in CO2, as well as reductions of 80.1% in CO, 84.4% in NOx, 92.2% in VOC, and 30.2% in PM2.5. Prioritizing electrification on long-distance routes is recommended during the replacement process. Additionally, replacing plug-in hybrid natural gas vehicles with pure electric vehicles has both advantages and disadvantages in terms of emission reduction. Achieving pollution reduction and carbon synergies requires advancing fleet replacement and power structure adjustments simultaneously.

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OBJECTIVE: To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients. METHODS: In this group, 26 children were diagnosed with sitosterolemia, 24 of whom underwent genetic analysis. Patient family medical history, physical symptoms, tests for liver function, lipid levels, standard blood tests, phytosterol levels, cardiac/carotid artery ultrasounds, fundus examinations, and treatment were collected. RESULTS: The majority (19, 73.1%) of the 26 patients exhibited xanthomas as the most prevalent manifestation. The second most common symptoms were joint pain (7, 26.9%) and stunted growth (4, 15.4%). Among the 24 (92.3%) patients whose genetics were analyzed, 16 (66.7%) harbored ABCG5 variants (type 2 sitosterolemia), and nearly one-third (8, 33.3%) harbored ABCG8 variants (type 1 sitosterolemia). Additionally, the most common pathogenic ABCG5 variant was c.1166G > A (p.Arg389His), which was found in 10 patients (66.7%). Further analysis did not indicate any significant differences in pathological traits among those carrying ABCG5 and ABCG8 variations (P > 0.05). Interestingly, there was a greater abundance of nonsense variations in ABCG5 than in ABCG8 (P = 0.09), and a greater frequency of splicing variations in ABCG8 than ABCG5 (P = 0.01). Following a change in diet or a combination of ezetimibe, the levels of cholesterol and low-density lipoprotein were markedly decreased compared to the levels reported before treatment. CONCLUSION: Sitosterolemia should be considered for individuals presenting with xanthomas and increased cholesterol levels. Phytosterol testing and genetic analysis are important for early detection. Managing one's diet and taking ezetimibe can well control blood lipids.

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The development of highly efficient electrocatalysts for direct seawater splitting with bifunctionality for inhibiting anodic oxidation reconstruction and selective oxygen evolution reactions is a major challenge. Herein, we report a direct seawater oxidation electrocatalyst that achieves long-term stability for more than 1000 h at 600 mA/cm2@η600 and high selectivity (Faraday efficiency of 100%). This catalyst revolves an amorphous molybdenum oxide layer constructed on the beaded-like cobalt oxide interface by atomic layer deposition technology. As demonstrated, a new restricted dynamic surface self-reconstruction mechanism is induced by the formation a stable reconstructed Co-Mo double hydroxide phase interface layer. The device assembled into a two-electrode flow cell for direct overall seawater electrolysis maintained at 1 A/cm2@1.93 V for 500 h with Faraday efficiency higher than 95%. Hydrogen generation rate reaches 419.4 mL/cm2/h, and the power consumption (4.62 KWh/m3 H2) is lower than that of pure water (5.0 KWh/m3 H2) at industrial current density.

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The perception of structure-borne noise is particularly salient when train passes through the tunnel under the buildings, which has a negative impact on human health. In the process of constructing buildings along metro lines, it is crucial to estimate indoor structure-borne noise levels in order to enhance design and prevent any negative impact on human comfort. This study conducted measurements of structure-borne noise, reverberation time, and train-induced vibrations in Guangzhou, China to investigate the generation, propagation, and dissipation mechanisms of structure-borne noise. An approach based on Short-Time Fourier Transform and Schroeder integral was proposed for obtaining frequency-dependent reverberation time. Additionally, a deep learning-based approach incorporating indoor vibrations, frequency-dependent reverberation time, and room parameters as inputs was proposed based on Genetic Algorithm-Artificial Neural Network. The estimated structure-borne noise levels demonstrated good agreement with measured values, indicating the feasibility of the approach. The finding of this research facilitates a clear comprehension of the generation, distribution, and dissipation mechanisms of indoor structure-borne noise for engineers while also enabling convenient acquisition of indoor structure-borne noise. The estimated noise levels can be effectively utilized during building design processes along metro lines to mitigate adverse impacts on human comfort.