Prediction of the left ventricular mass index in hypertensive patients using the product of red cell distribution width and mean corpuscular volume.

The product of red cell distribution width (RDW) and mean corpuscular volume (MCV) has been identified as an indicator of target organ damage in cases of hypertension. However, the role of the RDW-MCV product in assessing carotid alteration, renal damage, and left ventricular hypertrophy in patients with hypertension has not been elucidated. In this cross-sectional study, a total of 1115 participants with hypertension were included. The RDW and MCV at admission were measured using an automated hematology analyzer. Organ damage was determined by the left ventricular mass index (LVMI), carotid intima-media thickness, and estimated glomerular filtration rate. The prevalence rates of carotid alteration and left ventricular hypertrophy were 57.0% and 18.0%, respectively. A higher RDW-MCV product and RDW were observed in hypertensive patients who developed carotid alteration. After adjusting for potential confounding factors, the correlations of the RDW-MCV product (P = .285) and RDW (P = .346) with carotid alteration were not significant. Moreover, the analysis of variance showed no significant correlation between RDW and LVMI (P = .186). However, the RDW-MCV product was higher in individuals with a high LVMI compared to those with a normal LVMI. Multivariable linear regression analysis revealed that the RDW-MCV product was independently associated with the LVMI (ß = 2.519, 95% CI: 0.921-4.116; P = .002), but not the estimated glomerular filtration rate (ß = -0.260, 95% CI: -2.031-1.511; P = .773). An elevated RDW-MCV product may be a predictor for left ventricular hypertrophy in patients with hypertension.

The active pulling technique to solve microcatheter-uncrossable lesions in retrograde chronic total occlusion percutaneous coronary intervention.

BACKGROUND: It is not uncommon to encounter retrograde microcatheter-uncrossable lesions in retro-recanalization of Chronic Total Occlusion (CTO) cases, existing solutions were time-consuming or complicated to operate. Therefore, the present study aimed to propose and evaluate the feasibility, safety of a novel technique termed Active Pulling retrograde microcatheter crossing Technique (APT) during retrograde CTO percutaneous coronary intervention (PCI). METHODS: We retrospectively collected retrograde CTO-PCI cases from February 2017 to April 2023, only cases with the retrograde wire successfully crossed the CTO lesion were analyzed. The baseline clinical characteristics, angiographic characteristics, procedural details, and in-hospital major adverse cardiac events (MACEs) were compared. RESULTS: A total of 80 CTO cases were divided into the APT group and the non-APT group according to whether the APT was applied in the procedure. The APT group had a higher rate of device success than the non-APT group (100% vs. 85%, P = 0.013), with shorter duration (5.3 ± 3.8 vs. 18.6 ± 5.9 min, P < 0.001) and a smaller number of retrograde microcatheters were used (P < 0.001). In the APT group, the average air kerma radiation exposure was lower (2.7 ± 1.2 vs. 4.3 ± 1.7 Gy, P < 0.001), the fluoroscopy time (69.0 ± 15.0 vs. 88.1 ± 18.9 min, P < 0.001) and the procedure time (116.2 ± 22.2 vs. 131.6 ± 28.7 min, P = 0.009) was shorter than the non-APT group. The technical success rate of both groups reached 100% while the procedure success rate was higher in the APT group than the non-APT group (100% vs. 85%, P = 0.13). CONCLUSIONS: The APT is an easy and safe technique that can greatly improve procedural efficiency without adding other instruments, and allows the retrograde microcatheter to quickly crossing the CTO body after successful retrograde wire externalization.

Risk factor analysis and risk prediction study of obesity in steelworkers: model development based on an occupational health examination cohort dataset.

BACKGROUND: Obesity is increasingly recognized as a grave public health concern globally. It is associated with prevalent diseases including coronary heart disease, fatty liver, type 2 diabetes, and dyslipidemia. Prior research has identified demographic, socioeconomic, lifestyle, and genetic factors as contributors to obesity. Nevertheless, the influence of occupational risk factors on obesity among workers remains under-explored. Investigating risk factors specific to steelworkers is crucial for early detection, prediction, and effective intervention, thereby safeguarding their health. METHODS: This research utilized a cohort study examining health impacts on workers in an iron and steel company in Hebei Province, China. The study involved 5469 participants. By univariate analysis, multifactor analysis, and review of relevant literature, predictor variables were found. Three predictive models-XG Boost, Support Vector Machine (SVM), and Random Forest (RF)-were employed. RESULTS: Univariate analysis and cox proportional hazard regression modeling identified age, gender, smoking and drinking habits, dietary score, physical activity, shift work, exposure to high temperatures, occupational stress, and carbon monoxide exposure as key factors in the development of obesity in steelworkers. Test results indicated accuracies of 0.819, 0.868, and 0.872 for XG Boost, SVM, and RF respectively. Precision rates were 0.571, 0.696, and 0.765, while recall rates were 0.333, 0.592, and 0.481. The models achieved AUCs of 0.849, 0.908, and 0.912, with Brier scores of 0.128, 0.105, and 0.104, log losses of 0.409, 0.349, and 0.345, and calibration-in-the-large of 0.058, 0.054, and 0.051, respectively. Among these, the Random Forest model demonstrated superior performance. CONCLUSIONS: The research indicates that obesity in steelworkers results from a combination of occupational and lifestyle factors. Of the models tested, the Random Forest model exhibited superior predictive ability, highlighting its significant practical application.

The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants.

NUDT2 is an enzyme important for maintaining the intracellular level of the diadenosine tetraphosphate (Ap4A). Bi-allelic loss of function variants in NUDT2 has recently been reported as a rare cause of intellectual disability (ID). Herein, we describe a Chinese girl with ID, attention deficit hyperactivity disorder (ADHD), and motor delays with abnormal walking posture and difficulty climbing stairs, who bears compound heterozygous variants c.34 C > T (p.R12*) and c.194T > G (p.I65R) in NUDT2. Homozygous variants c.34 C > T (p.R12*) or c.186del (p.A63Qfs*3) in NUDT2 were previously reported to cause ID. This is the first patient with ID due to compound heterozygous variants in NUDT2 and p.I65R is a novel missense variant. This study enriched the genotype and phenotype of NUDT2-related ID and supported the critical developmental involvement of NUDT2.

A nested case-control study of the effects of dust exposure, smoking on COPD in coal workers.

BACKGROUND: Chronic obstructive pulmonary disease (COPD) represents a prevalent ailment, progressively surging within the ranks of coal mine laborers. The current study endeavors to elucidate the effects of dust exposure and smoking on COPD incidence amongst coal mine workers, while concurrently devising preventive strategies for this affliction. METHOD: A nested case-control study was conducted encompassing 1,416 participants aged ≥ 18 years, spanning the duration from (2017-2018) until 2020. A meticulous matching process yielded a cohort of 708 COPD patients, each paired with a control subject, forming a harmonious 1:1 ratio. Multiple logistic regression analysis was employed to scrutinize the associations between smoking, dust exposure with COPD among coal workers. RESULTS: The COPD prevalence within the cohort of coal workers under investigation amounted to 22.66%, with an accompanying incidence density of 0.09/person-year. Following meticulous adjustment for confounding variables, it was discerned that cumulative dust exposure within the range of 47.19 ~ (OR: 1.90, 95% CI: 1.05, 3.44), 101.27 ~ (OR: 1.99, 95% CI: 1.17, 3.39), as well as smoking indices of 72 ~ (OR: 1.85, 95% CI: 1.19, 2.88), 145 ~ (OR: 1.74, 95% CI: 1.17, 2.61), 310 ~ (OR: 1.85, 95% CI: 1.23, 2.77) engender an escalated vulnerability to COPD among coal workers. Furthermore, interaction analysis discerned an absence of both multiplicative and additive interactions between dust exposure, smoking, and COPD occurrence amidst coal workers. CONCLUSION: Dust exposure and smoking were unequivocally identified as precipitating risk factors for COPD incidence within the population of coal workers, albeit devoid of any discernible interaction between these two causal agents.

Operando probing and adjusting of the complicated electrode process of multivalent metals at extreme temperature.

Nearly half of the elements in the periodic table are extracted, refined, or plated using electrodeposition in high-temperature melts. However, operando observations and tuning of the electrodeposition process during realistic electrolysis operations are extremely difficult due to severe reaction conditions and complicated electrolytic cell, which makes the improvement of the process very blind and inefficient. Here, we developed a multipurpose operando high-temperature electrochemical instrument that combines operando Raman microspectroscopy analysis, optical microscopy imaging, and a tunable magnetic field. Subsequently, the electrodeposition of Ti-which is a typical polyvalent metal and generally shows a very complex electrode process-was used to verify the stability of the instrument. The complex multistep cathodic process of Ti in the molten salt at 823 K was systematically analyzed by a multidimensional operando analysis strategy involving multiple experimental studies, theoretical calculations, etc. The regulatory effect and its corresponding scale-span mechanism of the magnetic field on the electrodeposition process of Ti were also elucidated, which would be inaccessible with existing experimental techniques and is significant for the real-time and rational optimization of the process. Overall, this work established a powerful and universal methodology for in-depth analysis of high-temperature electrochemistry.

Both epilepsy and anti-seizure medications affect bone metabolism in children with self-limited epilepsy with centrotemporal spikes.

OBJECTIVE: Bone metabolism can be influenced by a range of factors. We selected children with self-limited epilepsy with centrotemporal spikes (SeLECTS) and lifestyles similar to those of healthy children to control for the confounding factors that may influence bone metabolism. We aimed to identify the specific effects of epilepsy and/or anti-seizure medications (ASMs) on bone metabolism. METHODS: Patients with SeLECTS were divided into an untreated group and a monotherapy group, and the third group was a healthy control group. We determined the levels of various biochemical markers of bone metabolism, including procollagen type I nitrogenous propeptide (PINP), alkaline phosphatase (ALP), osteocalcin (OC), collagen type I cross-linked C-telopeptide (CTX), calcium, magnesium, phosphorus, parathyroid hormone (PTH), and vitamin D3 (VD3 ). RESULTS: A total of 1487 patients (from 19 centers) were diagnosed with SeLECTS; 1032 were analyzed, including 117 patients who did not receive any ASMs (untreated group), 643 patients who received only one ASM (monotherapy group), and 272 children in the healthy control group. Except for VD3 , other bone metabolism of the three groups were different (p < .001). Bone metabolism was significantly lower in the untreated group than the healthy control group (p < .05). There were significant differences between the monotherapy and healthy control group in the level of many markers. However, when comparing the monotherapy and untreated groups, the results were different; oxcarbazepine, levetiracetam, and topiramate had no significant effect on bone metabolism. Phosphorus and magnesium were significantly lower in the valproic acid group than the untreated group (adjusted p < .05, Cliff's delta .282-.768). CTX was significantly higher in the lamotrigine group than in the untreated group (adjusted p = .012, Cliff's delta = .316). SIGNIFICANCE: Epilepsy can affect many aspects of bone metabolism. After controlling epilepsy and other confounders that affect bone metabolism, we found that the effects of ASMs on bone metabolism differed. Oxcarbazepine, levetiracetam, and topiramate did not affect bone metabolism, and lamotrigine corrected some of the abnormal markers of bone metabolism in patients with epilepsy.

Electronic structure analysis of NiO quantum dot-modified jackfruit-shaped ZnO sensors and sensing properties investigation of their highly sensitive and selective for butyl acetate.

Detection of flammable, explosive and toxic butyl acetate helps to avoid accidents and protect health in industrial production. However, there are few reports on butyl acetate sensors, especially highly sensitive, low detection limit and highly selective ones. In this work, density functional theory (DFT) analyzes the electronic structure of sensing materials and the adsorption energy of butyl acetate. The effects of Ni element doping, oxygen vacancy constructions, and NiO quantum dot modifications on the modulation of the electronic structure of ZnO and on the adsorption energy of butyl acetate are investigated in detail. Based on the DFT analysis, the NiO quantum dot modified jackfruit-shaped ZnO is synthesized via thermal solvent method reduction. The NiO/ZnO sensor has a response 502.5 for 100 ppm butyl acetate with 100 ppb detection limit, and the response for 100 ppm butyl acetate is at least 6.2 times higher than 100 ppm methanol, 100 ppm benzene, 100 ppm triethylamine, 100 ppm isopropanol, 100 ppm ethyl acetate and 100 ppm formic acid. X-ray photoelectron spectroscopy (XPS) explores the change of oxygen vacancies in sensor accompanied with the addition of Ni element and reveales the reason for the change of oxygen vacancies.

Highly Selective and ppb-Level Butanone Sensors Based on SnO2/NiO Heterojunction-Modified ZnO Nanosheets with Electron Polarity Transport Properties.

Gas sensors require the construction of composites with high reactivity to reduce the detection limit, but this can lead to a broad-spectrum response between the adsorbed oxygen and the target gas, making it difficult to improve selectivity. In this study, the phenomenon of electron polar transport properties of the two-dimensional heterojunction material is first discovered in gas sensing and utilized to greatly improve the selectivity of butanone sensors. Ultra-thin porous ZnO nanosheets modified with SnO2/NiO heterogeneous particles are synthesized to achieve 20 ppb detection limits for butanone with a response of 328 to 100 ppm butanone, which is the lowest known detection limit. The combination of reaction kinetics and liquid chromatography-mass spectrometry reveals a good synergistic catalytic effect of SnO2/NiO heterogeneous particles, which may contribute to the high response and low detection limit of butanone. Finally, the possible mechanism for the generation of electron polar transport phenomenon is analyzed in the two-dimensional heterojunction material. This work provides a novel perspective for achieving both selectivity and detection limits in gas sensors, with universal applicability and application potential.

Identification and characterization of a new variation in DPM2 gene in two Chinese siblings with mild intellectual impairment.

Introduction: Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of metabolic disorders caused by abnormal protein or lpid glycosylation. DPM2 is one subunit of a heterotrimeric complex for dolichol-phosphatemannose synthase (DPMS), a key enzyme in glycosylation, and only four patients with DPM2-CDG have been reported. Methods: Whole-exome sequencing (WES) was performed in a Chinese family having two siblings with a mild form of DPM2-CDG with developmental delay, mild intellectual disability, hypotonia, and increased serum creatine kinase. Sanger sequencing was used to validate the variants identified in the siblings and their parents. In vitro functional study was performed. Results: A homozygous mutation, c.197G>A (p.Gly66Glu) in exon 4 of DPM2 (NM_003863) was identified by whole exome sequencing (WES). In vitro functional analysis demonstrated that this variant increased the expression level of DPM2 protein and western blot revealed a significant decrease in ICAM1, a universal biomarker for hypoglycosylation in patients with CDG, suggesting abnormal N-linked glycosylation. We also reviewed the 4 previously reported patients carrying homozygous or compound heterozygous variants of DMP2 gene, and found that patients with variants within the region encoding the first domain had more severe clinical symptoms than those with variants within the second domain. However, the actual genotype-phenotype relationship needs more study. Discussion: Overall, our study broadens the variant spectrum of DPM2 gene, attempts to explain the different phenotypes in patients with different DPM2 variants, and emphasizes the need of further functional studies to understand the underlying pathophysiology of the phenotypic heterogeneity.

Serum level of S100A8/A9 as a biomarker for establishing the diagnosis and severity of community-acquired pneumonia in children.

Background: S100A8/A9, which is a member of S100 proteins, may be involved in the pathophysiology of Community-acquired pneumonia (CAP) that seriously threatens children's health. However, circulating markers to assess the severity of pneumonia in children are yet to be explored. Therefore, we aimed to investigate the diagnostic performance of serum S100A8/A9 level in determining the severity of CAP in children. Methods: In this prospective and observational study, we recruited 195 in-hospital children diagnosed with CAP. In comparison, 63 healthy children (HC) and 58 children with non-infectious pneumonia (pneumonitis) were included as control groups. Demographic and clinical data were collected. Serum S100A8/A9 levels, serum pro-calcitonin concentrations, and blood leucocyte counts were quantified. Results: The serum S100A8/A9 levels in patients with CAP was 1.59 ± 1.32 ng/mL, which was approximately five and two times higher than those in healthy controls and those in children with pneumonitis, respectively. Serum S100A8/A9 was elevated parallelly with the clinical pulmonary infection score. The sensitivity, specificity, and Youden's index of S100A8/A9 ≥1.25 ng/mL for predicting the severity of CAP in children was optimal. The area under the receiver operating characteristic curve of S100A8/A9 was the highest among the indices used to evaluate severity. Conclusions: S100A8/A9 may serve as a biomarker for predicting the severity of the condition in children with CAP and establishing treatment grading.

FDU-Net: Deep Learning-Based Three-Dimensional Diffuse Optical Image Reconstruction.

Near-infrared diffuse optical tomography (DOT) is a promising functional modality for breast cancer imaging; however, the clinical translation of DOT is hampered by technical limitations. Specifically, conventional finite element method (FEM)-based optical image reconstruction approaches are time-consuming and ineffective in recovering full lesion contrast. To address this, we developed a deep learning-based reconstruction model (FDU-Net) comprised of a Fully connected subnet, followed by a convolutional encoder-Decoder subnet, and a U-Net for fast, end-to-end 3D DOT image reconstruction. The FDU-Net was trained on digital phantoms that include randomly located singular spherical inclusions of various sizes and contrasts. Reconstruction performance was evaluated in 400 simulated cases with realistic noise profiles for the FDU-Net and conventional FEM approaches. Our results show that the overall quality of images reconstructed by FDU-Net is significantly improved compared to FEM-based methods and a previously proposed deep-learning network. Importantly, once trained, FDU-Net demonstrates substantially better capability to recover true inclusion contrast and location without using any inclusion information during reconstruction. The model was also generalizable to multi-focal and irregularly shaped inclusions unseen during training. Finally, FDU-Net, trained on simulated data, could successfully reconstruct a breast tumor from a real patient measurement. Overall, our deep learning-based approach demonstrates marked superiority over the conventional DOT image reconstruction methods while also offering over four orders of magnitude acceleration in computational time. Once adapted to the clinical breast imaging workflow, FDU-Net has the potential to provide real-time accurate lesion characterization by DOT to assist the clinical diagnosis and management of breast cancer.

Novel TP53RK variants cause varied clinical features of Galloway-Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients.

Objectives: Galloway-Mowat syndrome-4 (GAMOS4) is a very rare renal-neurological disease caused by TP53RK gene mutations. GAMOS4 is characterized by early-onset nephrotic syndrome, microcephaly, and brain anomalies. To date, only nine GAMOS4 cases with detailed clinical data (caused by eight deleterious variants in TP53RK) have been reported. This study aimed to examine the clinical and genetic characteristics of three unrelated GAMOS4 patients with TP53RK gene compound heterozygous mutations. Methods: Whole-exome sequencing (WES) was used to identify four novel TP53RK variants in three unrelated Chinese children. Clinical characteristics such as biochemical parameters and image findings of patients were also evaluated. Furthermore, four studies of GAMOS4 patients with TP53RK variants were reviewed. In addition, clinical and genetic features were described after a retrospective analysis of clinical symptoms, laboratory data, and genetic test results. Results: The three patients showed facial abnormalities, developmental delays, microcephaly, and aberrant cerebral imaging. Furthermore, patient 1 had slight proteinuria, while patient 2 had epilepsy. However, none of the individuals had nephrotic syndrome, and all were alive for more than 3 years of age. This is the first study to assess four variants in the TP53RK gene (NM_033550.4: c.15_16dup/p.A6Efs*29, c.745A > G/p.R249G, c.185G > A/p.R62H, and c.335A > G/p.Y112C). Conclusion: The clinical characteristics of the three children with TP53RK mutations are significantly different from the known GAMOS4 traits, including early nephrotic syndrome and mortality mainly occurring in the first year of life. This study provides insights into the pathogenic TP53RK gene mutation spectrum and clinical phenotypes of GAMOS4.

Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients.

CNOT3 is the central component of the CCR4-NOT protein complex, which is a global regulator of RNA polymerase II transcription. Loss of function mutations in CNOT3 lead to intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF), which is very rare. Herein, we reported two novel heterozygous frameshift mutations (c.1058_1059insT and c.724delT) and one novel splice site variant (c.387 + 2 T > C) in CNOT3 (NM_014516.3) gene in three Chinese patients with dysmorphic features, developmental delay, and behavior anomalies. The functional study showed that the CNOT3 mRNA levels were significantly decreased in the peripheral blood of two patients with c.1058_1059insT and c.387 + 2 T > C variants, respectively, and minigene assay demonstrated that the splice variant (c.387 + 2 T > C) resulted in exon skipping. We also found that CNOT3 deficiency was linked to alterations of expression levels of other CCR4-NOT complex subunits in mRNA level in the peripheral blood. By analyzing the clinical manifestations of all these patients with CNOT3 variants, including our three cases and 22 patients previously reported, we did not observe a correlation between genotypes and phenotypes. In summary, this is the first time to report cases with IDDSADF in the Chinese population, and three novel CNOT3 variants in these patients expand its mutational spectrum.

High-Purity Graphitic Carbon for Energy Storage: Sustainable Electrochemical Conversion from Petroleum Coke.

The petroleum coke (PC) has been widely used as raw materials for the preparation of electrodes in aluminium electrolysis and lithium-ion batteries (LIB), during which massive CO2 gases are produced. To meet global CO2 reduction, an environmentally friendly route for utilizing PC is highly required. Here, a simple, scalable, catalyst-free process that can directly convert high-sulfur PC into graphitic nanomaterials under cathodic polarization in molten CaCl2 -LiCl at mild temperatures is proposed. The energy consumption of the proposed process is calculated to be 3 627.08 kWh t-1 , half that of the traditional graphitization process (≈7,825.21 kWh t-1 graphite). When applied as a negative electrode for LIBs, the as-converted graphite materials deliver a competitive specific capacity of ≈360 mAh g-1 (0.2 C) compared with commercial graphite. This approach has great potential to scale up for sustainably converting low-value PC into high-quality graphite for energy storage.

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Neurodevelopmental disorders (NDDs) in children are a group of chronic developmental brain disorders caused by multiple genetic or acquired causes, including disorders of intellectual development, developmental speech or language disorders, autism spectrum disorders, developmental learning disorders, attention deficit hyperactivity disorder, tic disorders, and other neurodevelopmental disorders. With the improvement in the research level and the diagnosis and treatment techniques of NDDs, great progress has been made in the research on NDDs in children. This article reviews the research advances in NDDs, in order to further improve the breadth and depth of the understanding of NDDs in children among pediatricians.

MiR-30a-5p Promotes Vein Graft Restenosis by Inhibiting Cell Autophagy through Targeting ATG5.

OBJECTIVE: The aim of the study was to investigate the role of miR-30a-5p in restenosis of rats following vein grafting and the underlying mechanism. METHODS: Vein graft rat models were established and perfused with miR-30a-5p antagomir and si-ATG5 to probe the regulation of miR-30a-5p/ATG5 on intimal hyperplasia. Human saphenous vein smooth muscle cells (HSVSMCs) were obtained from the great saphenous veins of patients undergoing coronary artery bypass grafting and subjected to assays for autophagy, proliferation, and migration after gain and loss of function of miR-30a-5p and/or ATG5. The binding of miR-30a-5p and ATG5 was confirmed by RIP and dual-luciferase reporter assays. RESULTS: MiR-30a-5p expression gradually increased, ATG5 expression gradually decreased, and the intima was increasingly thickened during restenosis of grafted veins. Knockdown of miR-30a-5p in rats repressed the restenosis of vein grafts, while a deficiency of ATG5 reversed the effect of miR-30a-5p inhibition. Upregulation of miR-30a-5p enhanced the proliferation and migration of HSVSMCs and inhibited the autophagy, while downregulation of miR-30a-5p or overexpression of ATG5 showed opposite effects. ATG5 is a target gene of miR-30a-5p. CONCLUSION: MiR-30a-5p exacerbates vein graft restenosis by repressing ATG5 expression and inhibiting autophagy.

A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review.

BACKGROUND: CHEDDA syndrome is a rare neurodevelopmental syndrome caused by heterozygous missense or indel variants in the HX repeat motif of ATN1 gene. To date, CHEDDA has been identified in a few ethnic groups, and only 17 patients have been reported in literature, and no case has been reported in any country or region in Asia. METHODS: Trio-exome sequencing (Trio-ES) examination was conducted in a Chinese girl with global developmental delay and in her parents. Sanger sequencing was performed to confirm the candidate variant. RESULTS: This patient presented with mental and motor developmental delay, speech delay, and mild dysmorphic facial features, and had no epilepsy and visual impairment. Brain MRI did not show obvious structural abnormality. Through ES we identified a novel and de novo variant, c.3176_c.3177insGCACCT (p.Ser1059_His1060insHisLeu), within the HX motif of ATN1. No other pathogenic variant in another gene was found to support an alternative clinical and molecular diagnosis. CONCLUSIONS: This is the first described case of CHEDDA from China. Together with the available literature data, we found that either disruption of HX motif or alteration of the HX repeat number would lead to ATN1-associated CHEDDA. We also noted that CHEDDA is a clinical heterogenous syndrome, and patients carrying the same or similar variant might have different clinical manifestations and prognosis.

A solid-state electrolysis process for upcycling aluminium scrap.

The recycling of aluminium scrap today utilizing a remelting technique downgrades the quality of the aluminium, and the final sink of this downgraded recycled aluminium is aluminium casting alloys1-9. The predicted increase in demand for high-grade aluminium as consumers choose battery-powered electric vehicles over internal combustion engine vehicles is expected to be accompanied by a drop in the demand for low-grade recycled aluminium, which is mostly used in the production of internal combustion engines2,7,10,11. To meet the demand for high-grade aluminium in the future, a new aluminium recycling method capable of upgrading scrap to a level similar to that of primary aluminium is required2-4,7,11. Here we propose a solid-state electrolysis (SSE) process using molten salts for upcycling aluminium scrap. The SSE produces aluminium with a purity comparable to that of primary aluminium from aluminium casting alloys. Moreover, the energy consumption of the industrial SSE is estimated to be less than half that of the primary aluminium production process. By effectively recycling aluminium scrap, it could be possible to consistently meet demand for high-grade aluminium. True sustainability in the aluminium cycle is foreseeable with the use of this efficient, low-energy-consuming process.