Natural history and outcome of nonketotic hyperglycinemia in China.

Introduction: Nonketotic hyperglycinemia (NKH) is a rare, life-threatening genetic disorder. The patients usually show heterogeneous and nonspecific symptoms, resulting in diagnosis challenges using conventional approaches. Here, the clinical presentation and genetic features of 20 Chinese patients were examined and reported in order to clarify the natural history and prognosis of NKH in China. Methods: The Human Gene Mutation Database and literature regarding NKH in China were reviewed. Age of onset, clinical characteristics, genetic analysis, cranial magnetic resonance imaging (MRI) and electroencephalography (EEG) examinations, and outcome of the patients were analyzed. Natural history experiences and follow-up assays for five patients who were followed in our center were described. Results: Among all 20 NKH patients, 17 (85%) had the neonatal type and 3 (15%) had the infantile type, no late-onset cases were detected. Patients showed up for admission with a history of seizures (15/20), lethargy (14/20), hypotonia (11/20), apnea (9/20), and feeble sobbing (4/20). Brain MRI findings included abnormal signals in the internal capsule, cerebellum, or brainstem (6/14), dysplasia of the corpus callosum (5/14), and white matter abnormalities (3/14). EEG evaluations showed anomalies such as burst suppression (4/8) and hypsarrhythmia and/or epileptic activity (6/8). Median values of cerebrospinal fluid (CSF) glycine levels, plasma glycine levels and CSF/plasma glycine ratios were135.2 (range, 6.3-546.3) µmol/L, 998.2 (range,75-3,084) µmol/L, 0.16 (range, 0.03-0.60) respectively. Genetic analyses revealed four new variations and GLDC, AMT gene abnormalities in 13 (65%), 7 (35%) case, respectively. Prognosis information was available for 18 cases: nine patients died, eight in the neonatal period. Among the nine survivors, varying developmental disorders were observed. Discussion: Different disease processes and outcomes were found in Chinese NKH patients, according to this study. The initial clinical presentations, CSF glycine levels and CSF to plasma glycine ratios do not reliably predict prognosis, while MRI and EEG abnormalities may indicate a poor outlook. NKH diagnosis should be considered for neonates presenting specific symptoms. The present survey provides clinical data that support the development of a standardized protocol for diagnosing and treating NKH in China.

Savolitinib conferred sensitivity in a patient with D1228H mutation-induced capmatinib-resistant MET exon 14 skipping mutated lung adenocarcinoma.

Traditionally, the D1228 E/G/H/N mutation has been thought to cause Type I MET-TKI resistance. We reported a 75-year-old female with non-small cell lung cancer harboring MET exon 14 skipping mutation, who developed acquired MET D1228H mutation induced by capmatinib treatment. Interestingly, the patient demonstrated marked response to second-line savolitinib treatment with the duration of response of 19 months and several additional metastatic lesions appeared. Pathological assessment of rebiopsy sample showed adenocarcinoma and targeted next-generation sequencing revealed the loss of MET D1228H mutation and presence of MET p.Y1230N mutation. In response, the treatment regimen was amended to include a daily administration of 60 mg of cabozantinib, which resulted in moderate size reduction of the tumours. The switch of resistance mutations indicated that different type Ib MET inhibitors may exhibit distinct mechanisms of resistance. We call for futher studies on resistance based on patient-derived pre-clinical models including patient-derived tumor-like cell clusters, patient-derived organoids, and patient-derived xenografts.

Comparison and evaluation of neutralization of clinically frequently used antimicrobial agents using three different culture media in simulated blood cultures.

The performance of BACT/ALERT FA/FN Plus (France) blood culture containing a novel resin, DL (China) blood culture containing common resin, and adsorbent-free REDOX (USA) blood culture relying on dilution for antimicrobial neutralization at %peak serum concentration was evaluated by measuring the recovery of organisms and time to detection (TTD) in nine simulated microorganism-antimicrobial combination blood cultures. Significant differences were observed in the recovery rates among the aerobic media: 87.5% for BACT/ALERT media, 42.9% for DL media, and 12.5% for REDOX media. In contrast, no statistical difference was found in the TTD between FA Plus media and DL aerobic media. For the anaerobic media, the recovery rates were 91.4% for BACT/ALERT media, 2.9% for DL media, and 14.3% for REDOX media, with significant differences only between BACT/ALERT FN Plus media and the others. Among the seven main antimicrobial categories, only BACT/ALERT FA/FN Plus culture media demonstrated high recovery of microorganisms, with the exception of carbapenems. The DL culture media exhibited a relatively high recovery rate of microorganisms in the presence of piperacillin/tazobactam, levofloxacin, and gentamicin, but only in aerobic conditions. Conversely, REDOX media displayed microorganism recovery solely in the presence of gentamicin. BACT/ALERT FA/FN Plus culture media with novel resin showed absolute advantages over DL and REDOX culture media and can, therefore, be selectively applied in clinical settings when antimicrobials are used prior to blood collection. DL culture media, containing common resin, outperformed adsorbent-free dilution-based REDOX culture media, making it a viable backup option. There is a need to focus on improving the neutralization of carbapenems with current inefficiency in all three medias. IMPORTANCE: We present a study on performance comparison of three different commercial culture media for neutralization of antibiotic effects in simulated blood cultures. BACT/ALERT (FA Plus and FN Plus) culture media with novel resin showed absolute advantages over DL and REDOX culture media at %PSL concentration of antimicrobials.

Person-centered exploration of work-related stress patterns, predictors, and their association with subhealth in midwives: A cross-sectional study.

BACKGROUND: Midwives experience elevated levels of work-related stress. However, there is limited understanding of the patterns of this stress, its sociodemographic and work-related determinants, and its association with sub-health. METHOD: This multi-center cross-sectional study, conducted in 21 hospitals in Zhuhai City, Guangdong Province, China, involved 300 midwives. Work-related stress levels in midwives were evaluated using the Chinese version of the Nursing Stress Scale, while social, physical and mental sub-health status was measured with the Sub-Health Measurement Scale. Utilizing latent profile analysis, the study aimed to categorize midwives into homogeneous profiles based on patterns of work-related stress. RESULTS: Among the 300 midwives examined, three distinct profiles were identified: profile 1 (n=57, 19 %), characterized by low work-related stress; profile 2 (n=149, 50 %), representing the moderate work-related stress class; and profile 3 (n=94, 31 %), indicative of high work-related stress. Midwives in the high work-related stress profile tended to be younger, with lower monthly income, lower professional titles, and a higher likelihood of night shift work (all P<0.01). Significant and noteworthy trends were observed in sociodemographic characteristics (age, monthly income, and professional title) and work-related characteristics (night shift status). After controlling for confounders, the work-related stress profile demonstrated a negative association with social, physical and mental sub-health status. CONCLUSION: This study highlights integrating stress domains and adopting a person-centered approach to examine midwives' work-related stress. Identifying predictors of profile membership and their relationship with sub-health can inform tailored interventions to reduce stress and improve midwives' well-being.

Interfacial epitaxy of multilayer rhombohedral transition-metal dichalcogenide single crystals.

Rhombohedral-stacked transition-metal dichalcogenides (3R-TMDs), which are distinct from their hexagonal counterparts, exhibit higher carrier mobility, sliding ferroelectricity, and coherently enhanced nonlinear optical responses. However, surface epitaxial growth of large multilayer 3R-TMD single crystals is difficult. We report an interfacial epitaxy methodology for their growth of several compositions, including molybdenum disulfide (MoS2), molybdenum diselenide, tungsten disulfide, tungsten diselenide, niobium disulfide, niobium diselenide, and molybdenum sulfoselenide. Feeding of metals and chalcogens continuously to the interface between a single-crystal Ni substrate and grown layers ensured consistent 3R stacking sequence and controlled thickness from a few to 15,000 layers. Comprehensive characterizations confirmed the large-scale uniformity, high crystallinity, and phase purity of these films. The as-grown 3R-MoS2 exhibited room-temperature mobilities up to 155 and 190 square centimeters per volt second for bi- and trilayers, respectively. Optical difference frequency generation with thick 3R-MoS2 showed markedly enhanced nonlinear response under a quasi-phase matching condition (five orders of magnitude greater than monolayers).

Ile-Pro-Pro attenuates sympathetic activity and hypertension.

Isoleucine-proline-proline (Ile-Pro-Pro, IPP) is a natural food source tripeptide that inhibits angiotensin-converting enzyme (ACE) activity. The aim of this study was to determine the central and peripheral roles of IPP in attenuating sympathetic activity, oxidative stress and hypertension. Male Sprague-Dawley rats were subjected to sham-operated surgery (Sham) or two-kidney one-clip (2K1C) surgery to induce renovascular hypertension. Renal sympathetic nerve activity and blood pressure were recorded. Bilateral microinjections of IPP to hypothalamic paraventricular nucleus (PVN) attenuated sympathetic activity (-16.1 ± 2.5%, P < 0.001) and hypertension (-8.7 ± 1.5 mmHg, P < 0.01) in 2K1C rats by inhibiting ACE activity and subsequent angiotensin II and superoxide production in the PVN. Intravenous injections of IPP also attenuated sympathetic activity (-15.1 ± 2.1%, P < 0.001) and hypertension (-16.8 ± 2.3 mmHg, P < 0.001) via inhibiting ACE activity and oxidative stress in both PVN and arteries of 2K1C rats. The duration of the effects of the intravenous IPP was longer than those of the PVN microinjection, but the sympatho-inhibitory effect of intravenous injections occurred later than that of the PVN microinjection. Intraperitoneal injection of IPP (400 pmol/day for 20 days) attenuated hypertension and vascular remodeling via inhibiting ACE activity and oxidative stress in both PVN and arteries of 2K1C rats. These results indicate that IPP attenuates hypertension and sympathetic activity by inhibiting ACE activity and oxidative stress. The sympathoinhibitory effect of peripheral IPP is mainly caused by the ACE inhibition in PVN, and the antihypertensive effect is related to the sympathoinhibition and the arterial ACE inhibition. Long-term intraperitoneal IPP therapy attenuates hypertension, oxidative stress and vascular remodeling.

Climate change and urban sprawl: Unveiling the escalating flood risks in river deltas with a deep dive into the GBM river delta.

River deltas, such as the Ganges-Brahmaputra-Meghna (GBM) delta, are highly vulnerable to flooding, exacerbated by intense human activities and rapid urban growth. This study explores the evolution of urban flood risks in the GBM delta under the combined impacts of climate change and urban expansion. Unlike traditional assessments that focus on a single flood source, we consider multiple sources-coastal, fluvial, and pluvial. Our findings indicate that future urban expansion will significantly increase flood exposure, with a substantial rise in flood risk from all sources by the end of this century. Climate change is the main driver of increased coastal flood risks, while urban growth primarily amplifies fluvial, and pluvial flood risks. This highlights the urgent need for adaptive urban planning strategies to mitigate future flooding and support sustainable urban development. The extreme high emissions future scenario (SSP5-8.5) shows the largest urban growth and consequent flood risk, emphasizing the necessity for preemptive measures to mitigate future urban flooding. Our study provides crucial insights into flood risk dynamics in delta environments, aiding policymakers and planners in developing resilience strategies against escalating flood threats.

PpGATA21 Enhances the Expression of PpGA2ox7 to Regulate the Mechanism of Cerasus humilis Rootstock-Mediated Dwarf in Peach Trees.

Dwarfing rootstocks enhance planting density, lower tree height, and reduce both labor in peach production. Cerasus humilis is distinguished by its dwarf stature, rapid growth, and robust fruiting capabilities, presenting substantial potential for further development. In this study, Ruipan 4 was used as the scion and grafted onto Amygdalus persica and Cerasus humilis, respectively. The results indicate that compared to grafting combination R/M (Ruipan 4/Amygdalus persica), grafting combination R/O (Ruipan 4/Cerasus humilis) plants show a significant reduction in height and a significant increase in flower buds. RNA-seq indicates that genes related to gibberellin (GA) and auxin metabolism are involved in the dwarfing process of scions mediated by C. humilis. The expression levels of the GA metabolism-related gene PpGA2ox7 significantly increased in R/O and are strongly correlated with plant height, branch length, and internode length. Furthermore, GA levels were significantly reduced in R/O. The transcription factor PpGATA21 was identified through yeast one-hybrid screening of the PpGA2ox7 promoter. Yeast one-hybrid (Y1H) and dual-luciferase reporter (DLR) demonstrate that PpGATA21 can bind to the promoter of PpGA2ox7 and activate its expression. Overall, PpGATA21 activates the expression of the GA-related gene PpGA2ox7, resulting in reduced GA levels and consequent dwarfing of plants mediated by C. humilis. This study provides new insights into the mechanisms of C. humilis and offers a scientific foundation for the dwarfing and high-density cultivation of peach trees.

Phase-Directed Assembly of Triboelectric Nanopaper for Self-Powered Noncontact Sensing.

Noncontact sensing technology serves as a pivotal medium for seamless data acquisition and intelligent perception in the era of the Internet of Things (IoT), bringing innovative interactive experiences to wearable human-machine interaction perception networks. However, the pervasive limitations of current noncontact sensing devices posed by harsh environmental conditions hinder the precision and stability of signals. In this study, the triboelectric nanopaper prepared by a phase-directed assembly strategy is presented, which possesses low charge transfer mobility (1618 cm2 V-1 s-1) and exceptional high-temperature stability. Wearable self-powered noncontact sensors constructed from triboelectric nanopaper operate stably under high temperatures (200 °C). Furthermore, a temperature warning system for workers in hazardous environments is demonstrated, capable of nonintrusively identifying harmful thermal stimuli and detecting motion status. This research not only establishes a technological foundation for accurate and stable noncontact sensing under high temperatures but also promotes the sustainable intelligent development of wearable IoT devices under extreme environments.

Relationships between degree of polymerization and activities: A study on condensed tannins from the bark of Ficus altissima.

Condensed tannins were isolated from the bark of Ficus altissima and fractionated into four subcomponents on a Sephadex LH-20 column with 60 %, 80 %, 100 % methanol, and 70 % acetone, separately. Their structures were characterized by MALDI-TOF MS coupled with HPLC-ESI-MS and confirmed to be polymers of B-type procyanidin glucosides, procyanidins, and prodelphinidin glucosides. The degree of polymerization (DP) of these polymers was as high as 21, and the mDPs of the four subcomponents were calculated as 2.4, 6.6, 10.5 and 13.4, respectively. They competitively or noncompetitively suppressed the activities of tyrosinase and α-glucosidase through hydrogen bonding and hydrophobic interaction. And they also showed a powerful antioxidative activity. Correlation analyses verified that the anti-tyrosinase capacity exhibited a significant positive correlation (R2monophenolase = 0.9167 and R2diphenolase = 0.9302) with mDP within the methanol-water system, and the anti-α-glucosidase activity also showed a significant positive correlation with the mDP (R2 = 0.9187). In contrast, the antioxidant capability showed a significant negative correlation with the mDP (R2DPPH = 0.9258, R2ABTS = 0.9372). This study confirmed that condensed tannins from the bark of F. altissima were desirable anti-tyrosinase, anti-α-glucosidase, and antioxidant agents, and elucidated the relationships of their mDP (molecular weight) and activities, which provided a scientific basis for the comprehensive utilization of these polymers in the food, cosmetics, medicine and other fields.

EBV-positive inflammatory follicular dendritic cell sarcoma of the colon with clonal immunoglobulin gene rearrangement: A case report and literature review.

Introduction: Epstein-Barr virus-positive (EBV+) inflammatory follicular dendritic cell (FDC) sarcoma is a rare neoplasm characterized by spindle-shaped follicular dendritic cells, marked lymphoplasmacytic infiltration, and a consistent link to EBV. While it typically affects the liver and spleen, it is exceptionally rare in the digestive tract. We present a special case of EBV + inflammatory FDC sarcoma arising in the colon with clonal immunoglobulin (IG) gene rearrangement. Case presentation: A 70-year-old man presented with a one-month history of abdominal distension. Colonoscopy revealed a pedunculated polyp in the ascending colon, which was subsequently removed via endoscopic polypectomy. Histological examination of the colonic polyp demonstrated a pronounced lymphoplasmacytic infiltrate with scattered EBV + neoplastic cells, as evidenced by EBV-encoded small RNA in situ hybridization (EBER ISH). The neoplastic cells were positive for FDC-specific markers, including CD21, CD35, and CD23. Additionally, the tumor exhibited clonal rearrangement of the immunoglobulin heavy chain (IGH) gene. The diagnosis was confirmed as EBV + inflammatory follicular dendritic cell sarcoma. Conclusions: We described an exceptional case of EBV + inflammatory FDC sarcoma presenting as a colonic polyp, featuring a clonal IGH gene rearrangement not previously documented in this colonic tumor type. Heightened awareness of this rare neoplasm within the gastrointestinal tract is essential for both accurate diagnosis and effective patient management.

Winter harvesting reduces methane emissions and enhances blue carbon potential in coastal phragmites wetlands.

Enhancing the ability of coastal blue carbon to accumulate and store carbon and reduce net greenhouse gas emissions is an essential component of a comprehensive approach for tackling climate change. The annual winter harvesting of Phragmites is common worldwide. However, the effects of harvesting on methane (CH4) emissions and its potential as an effective blue carbon management strategy have rarely been reported. In this study, the effects of winter Phragmites harvesting on the CH4 and carbon dioxide (CO2) fluxes and the underlying mechanisms in coastal Phragmites wetlands were investigated by comparing the eddy covariance flux measurements for three coastal wetlands with different harvesting and tidal flow conditions. The results show that harvesting can greatly reduce the CH4 emissions and the radiative forcing of CH4 and CO2 fluxes in coastal Phragmites wetlands, suggesting that winter Phragmites harvesting has great potential as a nature-based strategy to mitigate global warming. The monthly mean CH4 fluxes were predominantly driven by air temperature, gross primary productivity, and latent heat fluxes, which are related to vegetation phenology. Additionally, variations in the salinity and water levels exerted strong regulation effects on CH4 emissions, highlighting the important role of proper tidal flow restoration and resalinization in enhancing blue carbon sequestration potential. Compared with the natural, tidally unrestricted wetlands, the CH4 fluxes in the impounded wetland were less strongly correlated with hydrometeorological variables, implying the increased difficulties of predicting CH4 variations in impounded ecosystem. This study facilitates the improved understanding of carbon exchange in coastal Phragmites wetlands with harvesting or impoundment, and provides new insights into effective blue carbon management strategies beyond tidal wetland restoration for mitigating the effects of climate change.

Asprosin contributes to vascular remodeling in hypertensive rats via superoxide signaling.

OBJECTIVE: Proliferation and migration of vascular smooth muscle cells (VSMCs) contribute to vascular remodeling. Asprosin, a newly discovered protein hormone, is involved in metabolic diseases. Little is known about the roles of asprosin in cardiovascular diseases. This study focused on the role and mechanism of asprosin on VSMC proliferation and migration, and vascular remodeling in a rat model of hypertension. METHODS AND RESULTS: VSMCs were obtained from the aortic media of 8-week-old male Wistar-Kyoto rats (WKY) and spontaneously hypertensive rats (SHR). Asprosin was upregulated in the VSMCs of SHR. For in vitro studies, asprosin promoted VSMC proliferation and migration of WKY and SHR, and increased Nicotinamide adenine dinucleotide phosphate (NADPH) oxidase (NOX) activity, NOX1/2/4 protein expressions and superoxide production. Knockdown of asprosin inhibited the proliferation, migration, NOX activity, NOX1/2 expressions and superoxide production in the VSMCs of SHR. The roles of asprosin in promoting VSMC proliferation and migration were not affected by hydrogen peroxide scavenger, but attenuated by superoxide scavenger, selective NOX1 or NOX2 inhibitor. Toll-like receptor 4 (TLR4) was upregulated in SHR, TLR4 knockdown inhibited asprosin overexpression-induced proliferation, migration and oxidative stress in VSMCs of WKY and SHR. Asprosin was upregulated in arteries of SHR, and knockdown of asprosin in vivo not only attenuated oxidative stress and vascular remodeling in aorta and mesentery artery, but also caused a subsequent persistent antihypertensive effect in SHR. CONCLUSIONS: Asprosin promotes VSMC proliferation and migration via NOX-mediated superoxide production. Inhibition of endogenous asprosin expression attenuates VSMC proliferation and migration, and vascular remodeling of SHR.

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.

BACKGROUND: Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular cobalamin (cbl) metabolism. MMA patients show diverse clinical and genetic features across different subtypes and populations. METHODS: We retrospectively recruited 60 MMA patients from a single center and diagnosed them based on their clinical manifestations and biochemical assays. We then performed genetic analysis to confirm the diagnosis and identify the causal variants. RESULTS: We confirmed the common clinical manifestations of MMA reported previously. We also described four rare MMA cases with unusual symptoms or genetic variants, such as pulmonary hypertension or limb weakness in late-onset patients. We identified 15 MMACHC and 26 MMUT variants in 57 patients, including 6 novel MMUT variants. Two patients had only one MMAA variant each, and one patient had mild MMA due to mitochondrial DNA depletion syndrome caused by a SUCLA2 variant. Among 12 critically ill patients, isolated MMA was associated with higher C3, blood ammonia, and acidosis, while combined MMA was linked to hydrocephalus on skull MRI. MMACHC c.658-660delAAG and MMUT c.1280G > A variants were correlated with more severe phenotypes. CONCLUSIONS: Our study demonstrates the clinical and genotypic heterogeneity of MMA patients and indicates that metabolic screening and genetic analysis are useful tools to identify rare cases.

Eight In. Wafer-Scale Epitaxial Monolayer MoS2.

Large-scale, high-quality, and uniform monolayer molybdenum disulfide (MoS2) films are crucial for their applications in next-generation electronics and optoelectronics. Epitaxy is a mainstream technique for achieving high-quality MoS2 films and is demonstrated at a wafer scale up to 4-in. In this study, the epitaxial growth of 8-in. wafer-scale highly oriented monolayer MoS2 on sapphire is reported as with excellent spatial homogeneity, using a specially designed vertical chemical vapor deposition (VCVD) system. Field effect transistors (FETs) based on the as-grown 8-in. wafer-scale monolayer MoS2 film are fabricated and exhibit high performances, with an average mobility and an on/off ratio of 53.5 cm2 V-1 s-1 and 107, respectively. In addition, batch fabrication of logic devices and 11-stage ring oscillators are also demonstrated, showcasing excellent electrical functions. This work may pave the way of MoS2 in practical industry-scale applications.

Genome-based taxonomic classification of the genus Sulfitobacter along with the proposal of a new genus Parasulfitobacter gen. nov. and exploring the gene clusters associated with sulfur oxidation.

BACKGROUND: The genus Sulfitobacter, a member of the family Roseobacteraceae, is widely distributed in the ocean and is believed to play crucial roles in the global sulfur cycle. However, gene clusters associated with sulfur oxidation in genomes of the type strains of this genus have been poorly studied. Furthermore, taxonomic errors have been identified in this genus, potentially leading to significant confusion in ecological and evolutionary interpretations in subsequent studies of the genus Sulfitobacter. This study aims to investigate the taxonomic status of this genus and explore the metabolism associated with sulfur oxidation. RESULTS: This study suggests that Sulfitobacter algicola does not belong to Sulfitobacter and should be reclassified into a novel genus, for which we propose the name Parasulfitobacter gen. nov., with Parasulfitobacter algicola comb. nov. as the type species. Additionally, enzymes involved in the sulfur oxidation process, such as the sulfur oxidization (Sox) system, the disulfide reductase protein family, and the sulfite dehydrogenase (SoeABC), were identified in almost all Sulfitobacter species. This finding implies that the majority of Sulfitobacter species can oxidize reduced sulfur compounds. Differences in the modular organization of sox gene clusters among Sulfitobacter species were identified, along with the presence of five genes with unknown function located in some of the sox gene clusters. Lastly, this study revealed the presence of the demethylation pathway and the cleavage pathway used by many Sulfitobacter species to degrade dimethylsulfoniopropionate (DMSP). These pathways enable these bacteria to utilize DMSP as important source of sulfur and carbon or as a defence strategy. CONCLUSIONS: Our findings contribute to interpreting the mechanism by which Sulfitobacter species participate in the global sulfur cycle. The taxonomic rearrangement of S. algicola into the novel genus Parasulfitobacter will prevent confusion in ecological and evolutionary interpretations in future studies of the genus Sulfitobacter.

Lightweight and Strong Cellulosic Triboelectric Materials Enabled by Cell Wall Nanoengineering.

As intelligent technology surges forward, wearable electronics have emerged as versatile tools for monitoring health and sensing our surroundings. Among these advancements, porous triboelectric materials have garnered significant attention for their lightness. However, these materials face the challenge of improving structural stability to further enhance the sensing accuracy of triboelectric sensors. In this study, a lightweight and strong porous cellulosic triboelectric material is designed by cell wall nanoengineering. By tailoring of the cell wall structure, the material shows a high mechanical strength of 51.8 MPa. The self-powered sensor constructed by this material has a high sensitivity of 33.61 kPa-1, a fast response time of 36 ms, and excellent pressure detection durability. Notably, the sensor still enables a high sensing performance after the porous cellulosic triboelectric material exposure to 200 °C and achieves real-time feedback of human motion, thereby demonstrating great potential in the field of wearable electronic devices.

Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China.

OBJECTIVE: This study aimed to explore the clinical and genetic features of Chinese patients with mucopolysaccharidosis type VII (MPS VII), thereby improving early detection, disease management, and patient outcomes. METHODS: A retrospective review of medical records for five patients presenting with coarse facial features, rib protrusion, chest deformities, and scoliosis was conducted. Exome sequencing was employed to identify causative genetic mutations. RESULTS: The study comprised five patients (four males, one female) with disease onset at six months of age (range: 0-1.5 years). Common symptoms included coarse facial features, skeletal abnormalities, delayed motor and language development, and intellectual disability. Approximately 80% of the patients exhibited multiple skeletal dysplasias, enlarged adenoids or tonsils, and snoring; 60% had hernias; 40% reported hearing loss and hepatosplenomegaly. Less frequent manifestations were short stature, valvular heart disease, non-immune hydrops fetalis, and corneal opacity. All patients demonstrated elevated urine glycosaminoglycans levels and absent ß-glucuronidase activity in leukocytes. Exome sequencing identified compound heterozygous mutations in the GUSB gene in all four tested patients, uncovering seven mutations in total, three of which were novel (c.189G > A, c.869C > T, and c.1745 T > C). Furthermore, prenatal diagnosis through chorionic villus sampling in subsequent pregnancies of one patient's mother revealed both fetuses had normal ß-glucuronidase activity and no disease-causing mutations in the GUSB gene. CONCLUSION: The study's patients all presented with classic symptoms of MPS VII due to ß-glucuronidase deficiency, with three new pathogenic mutations identified in the GUSB gene. Genetic counseling and prenatal testing were highlighted as crucial for disease prevention.

Unveiling the Broad Substrate Specificity of Deoxynivalenol Oxidation Enzyme DepA and Its Role in Detoxifying Trichothecene Mycotoxins.

DepA, a pyrroloquinoline quinone (PQQ)-dependent enzyme isolated from Devosia mutans 17-2-E-8, exhibits versatility in oxidizing deoxynivalenol (DON) and its derivatives. This study explored DepA's substrate specificity and enzyme kinetics, focusing on DON and 15-acetyl-DON. Besides efficiently oxidizing DON, DepA also transforms 15-acetyl-DON into 15-acetyl-3-keto-DON, as identified via LC-MS/MS and NMR analysis. The kinetic parameters, including the maximum reaction rate, turnover number, and catalytic efficiency, were thoroughly evaluated. DepA-PQQ complex docking was deployed to rationalize the substrate specificity of DepA. This study further delves into the reduced toxicity of the transformation products, as demonstrated via enzyme homology modeling and in silico docking analysis with yeast 80S ribosomes, indicating a potential decrease in toxicity due to lower binding affinity. Utilizing the response surface methodology and central composite rotational design, mathematical models were developed to elucidate the relationship between the enzyme and cofactor concentrations, guiding the future development of detoxification systems for liquid feeds and grain processing. This comprehensive analysis underscores DepA's potential for use in mycotoxin detoxification, offering insights for future applications.

Serum uric acid level is associated with glomerular ischemic lesions in patients with primary membranous nephropathy: an analytical, cross-sectional study.

To investigate the relationship between serum uric acid level and glomerular ischemic lesions (GIL) in patients with primary membranous nephropathy (PMN) and identify relevant risk factors. A total of 201 patients with PMN but normal renal function confirmed by renal biopsy executed in the Liaocheng People's Hospital, China, during January 2020-January 2023 were analyzed retrospectively. The enrolled patients were divided into a hyperuricemia group and a normal serum uric acid group (control group) according to their serum uric acid levels. Then, the participants were further divided into a non-GIL group or a GIL group based on the patient's renal biopsy results. The two groups' clinical and pathological data and meaningful indicators for differences were analyzed by binary logistic regression analysis. Additionally, the serum uric acid level prediction value on GIL was investigated using receiver operating characteristic (ROC) curves. Compared with the control group, the hyperuricemia group exhibited high serum uric acid, the prevalence of GIL, serum albumin, the prevalence of hypertension, and low-density lipoprotein cholesterol (LDL) levels (P < 0.05). Compared with the non-GIL group, the GIL group exhibited were older, had enhanced serum uric acid, serum albumin, and an increased prevalence of tubular atrophy/interstitial fibrosis (TA/IF), arteriolosclerosis, and low eGFR levels (P < 0.05). The binary logistic regression analysis revealed that the serum uric acid and the TA/IF are independent risk factors of GIL (P < 0.05). The AUC of ROC of GIL of PMN patients, predicted based on the serum uric acid concentration, was 0.736 (P < 0.05), wherein the threshold = 426.5 µmol/L and the Youden's index = 0.41. Serum uric acid concentration and the TA/IF are independent risk factors of GIL in patients with PMN, and the former exhibits prediction value on GIL in patients with PMN.