[Scale Effects of Landscape Pattern on Impacts of River Water Quality： A Meta-analysis].

The landscape pattern determines water pollution source and sink processes and plays an important role in regulating river water quality. Due to scale effects, studies on the relationship between landscape pattern and river water quality showed variance at different scales. However, there is still a lack of integrated study on the scale effect of landscape pattern and river water quality dynamics. This study collected 4 041 data from results of previous publications to address the characteristics of landscape pattern and river water quality dynamics at different scales and to identify the key temporal and spatial scales as well as landscape pattern indices for regulating river water quality. The results indicated that, compared to precipitation events, base flow periods, and interannual scales, the high-flow period was the key temporal scale for linking landscape pattern on river water quality. Compared to the watershed scale, the landscape pattern of buffer zones had a greater impact on river water quality. The high-flow period-buffer zone scale was the key spatiotemporal coupling scale for linking landscape pattern and river water quality. Compared to croplands, water bodies, grasslands, and the overall landscape of the watershed, the landscape pattern of forests and urban areas had a greater impact on river water quality. Fragmentation degree was the most important landscape pattern factor regulating river water quality. In river water quality management, it is important to focus on the landscape configuration of buffer zones, increase forest area, reduce patch density of forests and water bodies, and decrease the aggregation degree of urban areas.

[Nitrate Pollution Characteristics and Its Quantitative Source Identification of Major River Systems in China].

Accurate source identification/apportionment is essential for optimizing water NO3--N pollution control strategies. This study conducted a meta-analysis based on data from 167 rivers across China from 2000 to 2022 to analyze the spatial and temporal variation patterns of nitrate pollution in seven major river systems and to quantitatively identify the source composition of riverine nitrate. The average ρ（NO3--N） in the seven major river systems was （4.54±3.99） mg·L-1， with 9.6% of river ρ（NO3--N） exceeding 10 mg·L-1. The riverine ρ（NO3--N） in eastern China were higher than that in western China， and the highest concentration was observed in the Haihe River system. Additionally， tributaries experienced more serious NO3--N pollution than that in the main stream. The ρ（NO3--N） in most river systems in the dry season was higher than that in the wet season， except in the Yellow River system. There was significant nitrification in the Pearl River system， the middle and lower reaches of the Yellow River system， the middle reaches of the Liaohe River system， the Songhua River system， and the Haihe River system， whereas there was significant denitrification in the Yangtze River system， the Huaihe River system， and the lower reaches of the Pearl River system. Based on the dual stable isotopes-based MixSIAR model， the major NO3--N source was sewage/manure （ > 50%） in the Yangtze River system， Haihe River system， Liaohe River system， and Southeast River system. Soil nitrogen was the main NO3--N source in the Songhua River system （56.4%）， and the contribution of fertilizer nitrogen， soil nitrogen， and sewage/manure to NO3--N pollution in the Pearl River system， Huai River system， and Yellow River system was 20%-40%. The contribution rate of sewage/manure to NO3--N in the tributaries was higher than that in the main stream， whereas the contribution rate of soil nitrogen to NO3--N in the main stream was higher than that in the tributaries. The contribution rate of soil nitrogen， fertilizer nitrogen， and atmospheric deposition nitrogen to nitrate nitrogen in the wet season was higher than that in the dry season， whereas the contribution rate of sewage/manure to NO3--N pollution in the dry season was higher than that in the wet season. Therefore， point source pollution such as domestic and production sewage discharge should be controlled in the Haihe River system， the Yangtze River system， the Liaohe River system， the tributaries and the downstream main stream areas of Yellow River system， and the downstream area of the Pearl River system， whereas non-point source pollution caused by the loss of fertilizer and soil nitrogen should be controlled in the Huaihe River system， the Songhua River system， the middle reaches of the main stream area of the Yellow River system， and the middle and upper reaches of the Pearl River system. The results can provide a scientific basis for the effective control of nitrate pollution in the river systems in China.

Whole-Genome Mapping of Epigenetic Modification of 5-Formylcytosine at Single-Base Resolution by Chemical Labeling Enrichment and Deamination Sequencing.

DNA cytosine methylation (5-methylcytosine, 5mC) is a predominant epigenetic modification that plays a critical role in a variety of biological and pathological processes in mammals. In active DNA demethylation, the 10-11 translocation (TET) dioxygenases can sequentially oxidize 5mC to generate three modified forms of cytosine, 5-hydroxymethylcytosine (5hmC), 5-formylcytosine (5fC), and 5-carboxylcytosine (5caC). Beyond being a demethylation intermediate, recent studies have shown that 5fC has regulatory functions in gene expression and chromatin organization. While some methods have been developed to detect 5fC, genome-wide mapping of 5fC at base resolution is still highly desirable. Herein, we propose a chemical labeling enrichment and deamination sequencing (CLED-seq) method for detecting 5fC in genomic DNA at single-base resolution. The CLED-seq method utilizes selective labeling and enrichment of 5fC-containing DNA fragments, followed by deamination mediated by apolipoprotein B mRNA-editing catalytic polypeptide-like 3A (APOBEC3A or A3A) and sequencing. In the CLED-seq process, while all C, 5mC, and 5hmC are interpreted as T during sequencing, 5fC is still read as C, enabling the precise detection of 5fC in DNA. Using the proposed CLED-seq method, we accomplished genome-wide mapping of 5fC in mouse embryonic stem cells. The mapping study revealed that promoter regions enriched with 5fC overlapped with H3K4me1, H3K4me3, and H3K27ac marks. These findings suggest a correlation between 5fC marks and active gene expression in mESCs. In conclusion, CLED-seq is a straightforward, bisulfite-free method that offers a valuable tool for detecting 5fC in genomes at a single-base resolution.

Sustainable Recycling of Selenium-Based Optoelectronic Devices.

Selenium (Se), the world's oldest optoelectronic material, has been widely applied in various optoelectronic devices such as commercial X-ray flat-panel detectors and photovoltaics. However, despite the rare and widely-dispersed nature of Se element, a sustainable recycling of Se and other valuable materials from spent Se-based devices has not been developed so far. Here a sustainable strategy is reported that makes use of the significantly higher vapor pressure of volatile Se compared to other functional layers to recycle all of them from end-of-life Se-based devices through a closed-space evaporation process, utilizing Se photovoltaic devices as a case study. This strategy results in high recycling yields of ≈ 98% for Se and 100% for other functional materials including valuable gold electrodes and glass/FTO/TiO2 substrates. The refabricated photovoltaic devices based on these recycled materials achieve an efficiency of 12.33% under 1000-lux indoor illumination, comparable to devices fabricated using commercially sourced materials and surpassing the current indoor photovoltaic industry standard of amorphous silicon cells.

Structure of Amorphous Selenium: Small Ring, Big Controversy.

Selenium (Se) discovered in 1817 belongs to the family of chalcogens. Surprisingly, despite the long history of over two centuries and the chemical simplicity of Se, the structure of amorphous Se (a-Se) remains controversial to date regarding the dominance of chains versus rings. Here, we find that vapor-deposited a-Se is composed of disordered rings rather than chains in melt-quenched a-Se. We further reveal that the main origin of this controversy is the facile transition of rings to chains arising from the inherent instability of rings. This transition can be inadvertently triggered by certain characterization techniques themselves containing above-bandgap illumination (above 2.1 eV) or heating (above 50 °C). We finally build a roadmap for obtaining accurate Raman spectra by using above-bandgap excitation lasers with low photon flux (below 1017 phs m-2 s-1) and below-bandgap excitation lasers measured at low temperatures (below -40 °C) to minimize the photoexcitation- and heat-induced ring-to-chain transitions.

Single-Nucleotide Resolution Mapping of N6-Methyladenine in Genomic DNA.

N6-Methyladenine (6mA) is a naturally occurring DNA modification in both prokaryotes and eukaryotes. Herein, we developed a deaminase-mediated sequencing (DM-seq) method for genome-wide mapping of 6mA at single-nucleotide resolution. The method capitalizes on the selective deamination of adenine, but not 6mA, in DNA mediated by an evolved adenine deaminase, ABE8e. By employing this method, we achieved genome-wide mapping of 6mA in Escherichia coli and in mammalian mitochondrial DNA (mtDNA) at single-nucleotide resolution. We found that the 6mA sites are mainly located in the GATC motif in the E. coli genome. We also identified 17 6mA sites in mtDNA of HepG2 cells, where all of the 6mA sites are distributed in the heavy strand of mtDNA. We envision that DM-seq will be a valuable tool for uncovering new functions of 6mA in DNA and for exploring its potential roles in mitochondria-related human diseases.

[Estimation of Cropland Nitrogen Runoff Loss Loads in the Yangtze River Basin Based on the Machine Learning Approaches].

A quantitative understanding of cropland nitrogen (N) runoff loss is critical for developing efficient N pollution control strategies. Using correlation analysis, a structural equation model, variance decomposition, and machine learning methods, this study identified the primary influencing factors of total N (TN) runoff loss from uplands (n=570) and paddy (n=434) fields in the Yangtze River Basin (YRB) and then developed a machine learning-based prediction model to quantify cropland N runoff loss load. The results indicated that runoff depth, soil N content, and fertilizer addition rate were the major influencing factors of TN runoff loss from uplands, whereas TN runoff loss rate from paddy fields was mainly regulated by runoff depth and fertilizer addition rate. Among the four used machine learning methods, the prediction models based on the random forest algorithm presented the highest accuracy (R2=0.65-0.94) for predicting upland and paddy field TN runoff loss rates. The random forest algorithm based model estimated a total cropland TN loss load in the YRB of 0.47 Tg·a-1 (upland:0.25 Tg·a-1; paddy field:0.22 Tg·a-1) in 2013, with 58% of TN runoff loss load derived from the midstream and downstream regions. The models predicted that TN runoff loss loads from croplands in YRB would decrease by 2.4%-9.3% for five scenarios, with higher TN load reductions occurring from scenarios with decreased runoff amounts. To mitigate cropland N nonpoint source pollution in YRB, it is essential to integrate efficient water, fertilizer, and soil nutrient managements as well as to consider the midstream and downstream regions as the high priority area. The machine learning-based modeling method developed in this study overcame the difficulty of identifying the functional relationships between cropland TN loss rate and multiple influencing factors in developing relevant prediction models, providing a reliable method for estimating regional and watershed cropland TN loss load.

Enzymatic Cleavage-Mediated Extension Stalling Enables Accurate Recognition and Quantification of Locus-Specific Uracil Modification in DNA.

Chemical modifications in DNA have profound influences on the structures and functions of DNA. Uracil, a naturally occurring DNA modification, can originate from the deamination of cytosine or arise from misincorporation of dUTP into DNA during DNA replication. Uracil in DNA will imperil genomic stability due to their potential in producing detrimental mutations. An in-depth understanding of the functions of uracil modification requires the accurate determination of its site as well as content in genomes. Herein, we characterized that a new member of the uracil-DNA glycosylase (UDG) family enzyme (UdgX-H109S) could selectively cleave both uracil-containing single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Based on this unique property of UdgX-H109S, we developed an enzymatic cleavage-mediated extension stalling (ECES) method for the locus-specific detection and quantification of uracil in genomic DNA. In the ECES method, UdgX-H109S specifically recognizes and cleaves the N-glycosidic bond of uracil from dsDNA and generates an apurinic/apyrimidinic (AP) site, which could be broken by APE1 to form a one-nucleotide gap. The specific cleavage by UdgX-H109S is then evaluated and quantified by qPCR. With the developed ECES approach, we demonstrated that the level of uracil at position Chr4:50566961 in genomic DNA of breast cancer tissues was significantly decreased. Collectively, the ECES method has been proved to be accurate and reproducible in the locus-specific quantification of uracil in genomic DNA from biological and clinical samples.

Regioselective Multisite Atomic-Chlorine Passivation Enables Efficient and Stable Perovskite Solar Cells.

Passivating defects using organic halide salts, especially chlorides, is an effective method to improve power conversion efficiencies (PCEs) of perovskite solar cells (PSCs) arising from the stronger Pb-Cl bonding than Pb-I and Pb-Br bonding. However, Cl- anions with a small radius are prone to incorporation into the perovskite lattice that distorts the lead halide octahedron, degrading the photovoltaic performance. Here, we substitute atomic-Cl-containing organic molecules for widely used ionic-Cl salts, which not only retain the efficient passivation by Cl but also prevent the incorporation of Cl into the bulk lattice, benefiting from the strong covalent bonding between Cl atoms and organic frameworks. We find that only when the distance of Cl atoms in single molecules matches well with the distance of halide ions in perovskites can such a configuration maximize the defect passivation. We thereby optimize the molecular configuration to enable multiple Cl atoms in an optimal spatial position to maximize their binding with surface defects. The resulting PSCs achieve a certified PCE of 25.02%, among the highest PCEs for PSCs, and retain 90% of their initial PCE after 500 h of continuous operation.

Tex Se1-x Photodiode Shortwave Infrared Detection and Imaging.

Short-wave infrared detectors are increasingly important in the fields of autonomous driving, food safety, disease diagnosis, and scientific research. However, mature short-wave infrared cameras such as InGaAs have the disadvantage of complex heterogeneous integration with complementary metal-oxide-semiconductor (CMOS) readout circuits, leading to high cost and low imaging resolution. Herein, a low-cost, high-performance, and high-stability Tex Se1- x short-wave infrared photodiode detector is reported. The Tex Se1- x thin film is fabricated through CMOS-compatible low-temperature evaporation and post-annealing process, showcasing the potential of direct integration on the readout circuit. The device demonstrates a broad-spectrum response of 300-1600 nm, a room-temperature specific detectivity of 1.0 × 1010 Jones, a -3 dB bandwidth up to 116 kHz, and a linear dynamic range of over 55 dB, achieving the fastest response among Te-based photodiode devices and a dark current density 7 orders of magnitude smaller than Te-based photoconductive and field-effect transistor devices. With a simple Si3 N4 packaging, the detector shows high electric stability and thermal stability, meeting the requirements for vehicular applications. Based on the optimized Tex Se1- x photodiode detector, the applications in material identification and masking imaging is demonstrated. This work paves a new way for CMOS-compatible infrared imaging chips.

W-Band Beam-Tilted H-Plane Horn Array Antenna with Wideband Integrated Waveguide Feed Network Based on MMPTE.

A W-band H-plane horn array antenna with tilted radiation beam based on waveguide structure is proposed in this paper. The designed antenna array consists of four H-plane antenna elements and a broadband feed network. The distribution of excitations is determined by the theory of maximum power transmission efficiency (MMPTE). A multiple branch coupler, two T-junctions and three fixed phase shifters are employed to construct the feed network, which can generate the required amplitude and phase in broadband frequency range from 80 GHz to 100 GHz. The computer numerical control (CNC) milling machines technology is employed to machine the feed network and antenna. All measured and simulated results are in good agreement, which verify the feasibility of the theory of MMPTE to generate a radiation beam directed to any angle from -35° to 35° with suitable excitation provided by the proposed feed network in this paper.

[Effect of PKM2 on Osteogenic and Adipogenic Differentiation of Bone Marrow Mesenchymal Stem Cells in Myeloma Bone Disease].

OBJECTIVE: To investigate the expression of pyruvate kinase M2 (PKM2) in bone marrow mesenchymal stem cells (BMSCs) in myeloma bone disease (MBD) and its effect on osteogenic and adipogenic differentiation of BMSCs. METHODS: BMSCs were isolated from bone marrow of five patients with multiple myeloma (MM) (MM group) and five with iron deficiency anemia (control group) for culture and identification. The expression of PKM2 protein were compared between the two groups. The differences between osteogenic and adipogenic differentiation of BMSCs were assessed by using alkaline phosphatase (ALP) and oil red O staining, and detecting marker genes of osteogenesis and adipogenesis. The effect of MM cell line (RPMI-8226) and BMSCs co-culture on the expression of PKM2 was explored. Functional analysis was performed to investigate the correlations of PKM2 expression of MM-derived BMSCs with osteogenic and adipogenic differentiation by employing PKM2 activator and inhibitor. The role of orlistat was explored in regulating PKM2 expression, osteogenic and adipogenic differentiation of MM-derived BMSCs. RESULTS: Compared with control, MM-originated BMSCs possessed the ability of increased adipogenic and decreased osteogenic differentiation, and higher level of PKM2 protein. Co-culture of MM cells with BMSCs markedly up-regulated the expression of PKM2 of BMSCs. Up-regulation of PKM2 expression could promote adipogenic differentiation and inhibit osteogenic differentiation of MM-derived BMSCs, while down-regulation of PKM2 showed opposite effect. Orlistat significantly promoted osteogenic differentiation in MM-derived BMSCs via inhibiting the expression of PKM2. CONCLUSION: The overexpression of PKM2 can induce the inhibition of osteogenic differentiation of BMSCs in MBD. Orlistat can promote the osteogenic differentiation of BMSCs via inhibiting the expression of PKM2, indicating a potential novel agent of anti-MBD therapy.

Mitigating Electron Leakage of Solid Electrolyte Interface for Stable Sodium-Ion Batteries.

The interfacial stability is highly responsible for the longevity and safety of sodium ion batteries (SIBs). However, the continuous solid-electrolyte interphase(SEI) growth would deteriorate its stability. Essentially, the SEI growth is associated with the electron leakage behavior, yet few efforts have tried to suppress the SEI growth, from the perspective of mitigating electron leakage. Herein, we built two kinds of SEI layers with distinct growth behaviors, via the additive strategy. The SEI physicochemical features (morphology and componential information) and SEI electronic properties (LUMO level, band gap, electron work function) were investigated elaborately. Experimental and calculational analyses showed that, the SEI layer with suppressed growth delivers both the low electron driving force and the high electron insulation ability. Thus, the electron leakage is mitigated, which restrains the continuous SEI growth, and favors the interface stability with enhanced electrochemical performance.

Quantitative and site-specific detection of inosine modification in RNA by acrylonitrile labeling-mediated elongation stalling.

RNA molecules contain diverse modifications that play crucial roles in a wide variety of biological processes. Inosine is one of the most prevalent modifications in RNA and dysregulation of inosine is correlated with many human diseases. Herein, we established an acrylonitrile labeling-mediated elongation stalling (ALES) method for quantitative and site-specific detection of inosine in RNA from biological samples. In ALES method, inosine is selectively cyanoethylated with acrylonitrile to form N1-cyanoethylinosine (ce1I) through a Michael addition reaction. The N1-cyanoethyl group of ce1I compromises the hydrogen bond between ce1I and other nucleobases, leading to the stalling of reverse transcription at original inosine site. This specific property of stalling at inosine site could be evaluated by subsequent real-time quantitative PCR (qPCR). With the proposed ALES method, we found the significantly increased level of inosine at position Chr1:63117284 of Ino80dos RNA of multiple tissues from sleep-deprived mice compared to the control mice. This is the first report on the investigation of inosine modification in sleep-deprived mice, which may open up new direction for deciphering insomnia from RNA modifications. In addition, we found the decreased level of inosine at GluA2 Q/R site (Chr4:157336723) in glioma tissues, indicating the decreased level of inosine at GluA2 Q/R site may serve as potential indicator for the diagnosis of glioma. Taken together, the proposed ALES method is capable of quantitative and site-specific detection of inosine in RNA, which provides a valuable tool to uncover the functions of inosine in human diseases.

Influence of wind, cold and dampness on clinical manifestation of knee osteoarthritis patients based on the stratifications of traditional Chinese medicine constitution / 中国骨伤

OBJECTIVE@#To explore influence of external factors of wind, cold and dampness on clinical symptoms in knee osteoarthritis (KOA) patients with different constitutions of traditional Chinese medicine.@*METHODS@#A cross-sectional stratified study was performed to select 108 patients with GradeⅡKOA in Kellgren & Lawrence (K-L) classification, including 22 males and 86 females, aged from 47 to 75 years old with an average of (60.7±6.0) years old;body mass index(BMI) ranged from 17.87 to 31.22 kg·m-2 with an average of (23.80±2.86) kg·m-2. According to Classification and Judgment of TCM Physique (ZYYXH/T157-2009), the types of TCM physique were determined and divided into 4 layers according to the deficiency and actual physique. Among them, there were 24 patients without biased physique, 12 males and 12 females, aged from 51 to 73 years old with an average of(62.8±6.0) years old, BMI ranged from 17.87 to 31.14 kg·m-2 with an average of (24.32±3.25) kg·m-2;there were 46 patients with virtual bias constitution, including 7 males and 39 females, aged from 47 to 70 years old with an average of (60.0±5.8) years old, BMI ranged from 19.38 to 31.22 kg·m-2 with an average of(23.42±2.97) kg·m-2;There were 26 patients with solid bias constitution, including 2 males and 24 females, aged from 48 to 75 years old with an average of (60.4±5.8) years old, BMI ranged from 21.16 to 30.76 kg·m-2 with an average of (24.15±2.33) kg·m-2;there were 9 patients with special constitution, 1 male and 8 female, aged from 53 to 75 years old with an average of (59.8±7.5) years old, BMI ranged from 19.26 to 26.67 kg·m-2 with an average of (23.79±2.49) kg·m-2. Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) was used to evaluate severity of clinical symptoms. The wind-cold-dampness external factor score was calculated through the questionnaire of wind-cold-dampness syndrome scale to evaluate degree of influence of wind-cold-dampness external factor. Pearson correlation analysis and partial correlation analysis were used to calculate the correlation coefficient between severity of external factors affecting wind, cold and dampness and severity of clinical symptoms in patients with different TCM constitution stratification.@*RESULTS@#There was no statistical significance between total score of wind-cold-dampness and WOMAC score in patients with no biased constitution and special condition. Total wind-cold-dampness score of patients with virtual biased constitution was positively correlated with WOMAC stiffness score (r=0.327, P=0.032), and total wind-cold-dampness score of patients with solid biased constitution was positively correlated with WOMAC pain score (r=0.561, P=0.005) and WOMAC overall score (r=0.446, P=0.033). After further adjusting for the interaction of external factors of wind-cold-dampness, there was no statistical significance between wind-cold-dampness scores and WOMAC scores in patients with solid biased constitution. The score of dampness and pathogenic factors was positively correlated with WOMAC stiffness score (r=0.414, P=0.007).@*CONCLUSION@#The external factors of wind-cold dampness have different effects on the clinical symptoms of KOA patients with different TCM constitutions. Compared with other constitutions, the rigid symptoms of patients with asthenic biased constitutions are more susceptible to dampness pathogenic factors.

Indoor photovoltaics awaken the world's first solar cells.

Selenium (Se) solar cells were the world's first solid-state photovoltaics reported in 1883, opening the modern photovoltaics. However, its wide bandgap (~1.9 eV) limits sunlight harvesting. Here, we revisit the world's oldest but long-ignored photovoltaic material with the emergence of indoor photovoltaics (IPVs); the absorption spectrum of Se perfectly matches the emission spectra of commonly used indoor light sources in the 400 to 700 nm range. We find that the widely used Te adhesion layer also passivates defects at the nonbonded Se/TiO2 interface. By optimizing the Te coverage from 6.9 to 70.4%, the resulting Se cells exhibit an efficiency of 15.1% under 1000 lux indoor illumination and show no efficiency loss after 1000 hours of continuous indoor illumination without encapsulation, outperforming the present IPV industry standard of amorphous silicon cells in both efficiency and stability. We further fabricate Se modules (6.75 cm2) that produce 232.6 µW output power under indoor illumination, powering a radio-frequency identification-based localization tag.

How Non-Uniform Stiffness Affects the Propulsion Performance of a Biomimetic Robotic Fish.

Live fish in nature exhibit various stiffness characteristics. The anguilliform swimmer, like eels, has a relatively flexible body, while the thunniform swimmer, like the swordfishes, has a much stiffer body. Correspondingly, in the design of biomimetic robotic fish, how to balance the non-uniform stiffness to achieve better propulsion performance is an essential question needed to be answered. In this paper, we conduct an experimental study on this question. First, a customized experimental platform is built, which eases the adjustment of the non-uniform stiffness ratio, the stiffness of the flexible part, the flapping frequency, and the flapping amplitude. Second, extensive experiments are carried out, finding that to maximize the propulsion performance of the biomimetic robotic fish, the non-uniform stiffness ratio is required to adapt to different locomotor parameters. Specifically, the non-uniform stiffness ratio needs to be reduced when the robotic fish works at low frequency, and it needs to be increased when the robotic fish works at high frequency. Finally, detailed discussions are given to further analyze the experimental results. Overall, this study can shed light on the design of a non-uniform biomimetic robotic fish, which helps to increase its propulsion performance.

Incontinentia pigmenti with intracranial arachnoid cyst: A case report.

BACKGROUND: Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that can be fatal in male infants. It is a disease that affects many systems of the human body. In addition to characteristic skin changes, patients may also have pathological features of the eyes, teeth, and central nervous system. Therefore, the lesions in these systems may be the first symptoms for which patients seek treatment. To date, no cases of IP complicated by intracranial arachnoid cyst (IAC) have been reported. This paper aims to report a case of IP with IAC in order to share the diagnosis and treatment experience of this rare case with other clinicians. CASE SUMMARY: An 11-year-old female patient suffered intermittent limb convulsions for five months and was sent to hospital. In the initial stage, the patient was considered to have primary epilepsy. Further investigation of the patient's medical history, physical examination and imaging examination led to the diagnosis of IP combined with intracranial space-occupying lesions, and secondary epilepsy. The patient was treated with craniotomy, and postoperative pathology revealed an IAC. The patient recovered well after craniotomy and had no obvious surgery-related complications. During the follow-up period, the patient did not have recurrent epilepsy symptoms. CONCLUSION: IP is a multi-system disease that presents with typical skin lesions at birth, but the long-term prognosis of this disease depends on the involvement of systems other than the skin, especially nervous system and ocular lesions.

Genome-wide mapping of N 4-methylcytosine at single-base resolution by APOBEC3A-mediated deamination sequencing.

N 4-methylcytosine (4mC) is a natural DNA modification occurring in thermophiles and plays important roles in restriction-modification (R-M) systems in bacterial genomes. However, the precise location and sequence context of 4mC in the whole genome are limited. In this study, we developed an APOBEC3A-mediated deamination sequencing (4mC-AMD-seq) method for genome-wide mapping of 4mC at single-base resolution. In the 4mC-AMD-seq method, cytosine and 5-methylcytosine (5mC) are deaminated by APOBEC3A (A3A) protein to generate uracil and thymine, both of which are read as thymine in sequencing, while 4mC is resistant to deamination and therefore read as cytosine. Thus, the readouts of cytosines from sequencing could manifest the original 4mC sites in genomes. With the 4mC-AMD-seq method, we achieved the genome-wide mapping of 4mC in Deinococcus radiodurans (D. radiodurans). In addition, we confirmed that 4mC, but not 5mC, was the major modification in the D. radiodurans genome. We identified 1586 4mC sites in the genome of D. radiodurans, among which 564 sites were located in the CCGCGG motif. The average methylation levels in the CCGCGG motif and non-CCGCGG sequence were 70.0% and 22.8%, respectively. We envision that the 4mC-AMD-seq method will facilitate the investigation of 4mC functions, including the 4mC-involved R-M systems, in uncharacterized but potentially useful strains.

Bisulfite-free and single-nucleotide resolution sequencing of DNA epigenetic modification of 5-hydroxymethylcytosine using engineered deaminase.

The discovery of 5-hydroxymethylcytosine (5hmC) in mammalian genomes is a landmark in epigenomics study. Similar to 5-methylcytosine (5mC), 5hmC is viewed as a critical epigenetic modification. Deciphering the functions of 5hmC necessitates the location analysis of 5hmC in genomes. Here, we proposed an engineered deaminase-mediated sequencing (EDM-seq) method for the quantitative detection of 5hmC in DNA at single-nucleotide resolution. This method capitalizes on the engineered human apolipoprotein B mRNA-editing catalytic polypeptide-like 3A (A3A) protein to produce differential deamination activity toward cytosine, 5mC, and 5hmC. In EDM-seq, the engineered A3A (eA3A) protein can deaminate C and 5mC but not 5hmC. The original C and 5mC in DNA are deaminated by eA3A to form U and T, both of which are read as T during sequencing, while 5hmC is resistant to deamination by eA3A and is still read as C during sequencing. Therefore, the remaining C in the sequence manifests the original 5hmC. By EDM-seq, we achieved the quantitative detection of 5hmC in genomic DNA of lung cancer tissue. The EDM-seq method is bisulfite-free and does not require DNA glycosylation or chemical treatment, which offers a valuable tool for the straightforward and quantitative detection of 5hmC in DNA at single-nucleotide resolution.