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ObjectiveTo investigate the clinical manifestations, molecular genetics and gonadal pathology characteristics of patients with disorders of sex development (DSD), and to summarize the clinical experience of identifying rare diseases from common symptoms.MethodsThe clinical data of 416 patients with DSD diagnosed and treated in the multidisciplinary center of DSD of Guangzhou Women and Children′s Medical Center from May 2018 to August 2023 were retrospectively analyzed, summarized and discussed.ResultsAccording to chromosome karyotype, 416 cases of DSD were classified into three types: 92 cases(22.1%) of abnormal sex chromosome karyotype, 285 cases(68.5%) of 46, XY karyotype and 39 cases(9.4%) of 46, XX karyotype. Among the 92 patients with abnormal sex chromosome karyotype, 59 cases were raised as males, 18 cases (30.5%) complained of short penis with hypospadias and cryptorchidism. The most common karyotype was 45, X/46, XY(58 cases, 63.0%).Among the 285 patients with 46, XY karyotype, 238 cases were raised as males, and 63 cases(26.5%)complained of short penis and hypospadias; 47 cases were raised as females, and 13 cases(27.7%) complained of inguinal mass. A total of 216 patients with 46, XY karyotype were subjected to whole exome gene detection, and 155 cases(71.8%) were found to have molecular pathogenesis with the clinical phenotype. Among the 39 patients with 46, XX karyotype, 19 cases were raised as males, and 8 cases(42.1%) complained of short penis and hypospadias. In the 18 cases of gonad biopsy, 17 cases showed testicular tissue in gonads. Whole exome sequencing was performed in 14 cases. NR5A1 gene heterozygous mutation, SRY gene mutation and SOX3 gene mutation were found in 2 cases, respectively(14.3%). Twenty cases were raised as females, and 14 cases(70.0%) complained of clitoral hypertrophy. Gonad biopsy was performed in 8 cases, with 7 cases of ovotestis(87.5%) and 1 case of NR5A1 gene heterozygous mutation(14.3%).ConclusionsThe etiologies of DSD are complex and diverse, and the clinical manifestations are various, which can be manifested as hypospadias, micropenis, cryptorchidism and other common symptoms of the urinary system. Different etiologies have different treatment options. Therefore, chromosome karyotype, molecular genetic testing and gonadal pathology can be used to clarify the cause of disease, especially for rare diseases, improve the detection rate, reduce the rate of missed diagnosis, and ensure reasonable treatment, especially sex selection.

[Objective] The Late Devonian Frasnian-Famennian (F-F) transition is a critical time interval in geological history. This period saw major simultaneous marine ecological system changes that led to one of the Big Five mass extinctions in the Phanerozoic. The F-F event (also referred to as the Kellwasser event) was characterized by severe losses of low-latitude shallow-water benthic faunas, notably reef-dwelling coral and stromatoporoids. High-latitude, deep-sea and terrestrial faunas were the least affected. Various separate or combined hypotheses have been proposed as the causes of this mass extinction (sea-level change, marine anoxia, climate change, volcanic/hydrothermal activities, and bolide impact) . Of these, climate change and marine anoxia have been the most intensively researched and discussed hypotheses based on the Web of Science in recent years. However, some controversies remain, and the interactions of certain factors are still unclear. [Methods] This study systematically reviews available reports on the paleoclimatic and paleo-oceanic changes during the F-F transition and discusses the anoxic model during this critical period, based on related case studies in southern China. [Results and Conclusions] Conodont oxygen and strontium isotopes, as well as the carbon isotope records for carbonates, collectively suggest a cold climate during the F-F transition interval, with several rapid warming-cooling fluctuations. Conodont oxygen isotopes suggest that the sea-sur face temperature (SST) dropped by 5 ° C-8 ° C. Strontium isotopes also imply that the temperature fluctuations were due to frequent, short-duration volcanism. Palynological data and carbonate platform exposure/karstification are also suggestive of coeval climate cooling. Additionally, marine anoxia has been extensively hypothesized as a possible killing mechanism in the F-F mass extinction, based initially on the presence of bituminous limestones (or black shales), named the lower and upper Kellwasser horizons. Studies of pyrite framboids, biomarker compounds, trace elements, isotopes of nitrogen, sulfur and uranium, and iron speciation have variously suggested the existence of the Kellwasser anoxic events. However, these generally occurred in geographically specific environments notably in the pericontinental basins/sub-basins proximal to source hinterlands. Moreover, the range and degree of anoxia in the F-F transition also reportedly differed between study sections around the world. With regard to the anoxic model, studies have suggested that the Kellwasser anoxic events were caused by the increased nutrient input related to enhanced continental weathering. Marine anoxic studies from three F-F sections comprising different depositional facies in southern China also support this "top down" anoxic model. Clearly, the F-F biotic crisis was not caused by any single factor. Frequent short-term volcanic activity may have enhanced continental weathering and associated greenhouse gas emission, leading to frequent warming-cooling climate fluctuations and also increased oceanic nutrient input. In the latter case, eutrophication and anoxia would have occurred in shallow water, and the mutual interaction of the various environmental factors may have exerted biological pressure in the low-latitude shallow sea, and eventually led to the F-F biotic crisis. [ABSTRACT FROM AUTHOR]

Summary: Rhizosphere microbiomes are pivotal for crop fitness, but the principles underlying microbial assembly during root–soil interactions across soils with different nutrient statuses remain elusive.We examined the microbiomes in the rhizosphere and bulk soils of maize plants grown under six long‐term (≥ 29 yr) fertilization experiments in three soil types across middle temperate to subtropical zones.The assembly of rhizosphere microbial communities was primarily driven by deterministic processes. Plant selection interacted with soil types and fertilization regimes to shape the structure and function of rhizosphere microbiomes. Predictive functional profiling showed that, to adapt to nutrient‐deficient conditions, maize recruited more rhizobacteria involved in nutrient availability from bulk soil, although these functions were performed by different species. Metagenomic analyses confirmed that the number of significantly enriched Kyoto Encyclopedia of Genes and Genomes Orthology functional categories in the rhizosphere microbial community was significantly higher without fertilization than with fertilization. Notably, some key genes involved in carbon, nitrogen, and phosphorus cycling and purine metabolism were dominantly enriched in the rhizosphere soil without fertilizer input.In conclusion, our results show that maize selects microbes at the root–soil interface based on microbial functional traits beneficial to its own performance, rather than selecting particular species. [ABSTRACT FROM AUTHOR]

Diabetic retinopathy (DR) represents a severe complication of diabetes mellitus, characterized by irreversible visual impairment resulting from microvascular abnormalities. Since the global prevalence of diabetes continues to escalate, DR has emerged as a prominent area of research interest. The development and progression of DR encompass a complex interplay of pathological and physiological mechanisms, such as high glucose-induced oxidative stress, immune responses, vascular endothelial dysfunction, as well as damage to retinal neurons. Recent years have unveiled the involvement of genomic and epigenetic factors in the formation of DR mechanisms. At present, extensive research explores the potential of biomarkers such as cytokines, molecular and cell therapies, antioxidant interventions, and gene therapy for DR treatment. Notably, certain drugs, such as anti-VEGF agents, antioxidants, inhibitors of inflammatory responses, and protein kinase C (PKC)-β inhibitors, have demonstrated promising outcomes in clinical trials. Within this context, this review article aims to introduce the recent molecular research on DR and highlight the current progress in the field, with a particular focus on the emerging and experimental treatment strategies targeting the immune and redox signaling pathways. [ABSTRACT FROM AUTHOR]

Crop residue decomposition is an important part of the carbon cycle in agricultural ecosystems, and microorganisms are widely recognized as key drivers during this process. However, we still know little about how nitrogen (N) input and rhizosphere effects from the next planting season impact key straw-decomposing microbial communities. Here, we combined amplicon sequencing and DNA-Stable Isotope Probing (DNA-SIP) to explore these effects through a time-series wheat pot experiment with four treatments: 13C-labeled maize straw addition with or without N application (S1N1 and S1N0), and no straw addition with or without N application (S0N1 and S0N0). The results showed that straw addition significantly reduced soil microbial alpha diversity in the early stages. Straw addition changed microbial beta diversity and increased absolute abundance in all stages. Growing plants in straw-amended soil further reduced bacterial alpha diversity, weakened straw-induced changes in beta diversity, and reduced bacterial and fungal absolute abundance in later stages. In contrast, N application could only increase the absolute abundance of soil bacteria and fungi while having little effect on alpha and beta diversity. The SIP-based taxonomic analysis of key straw-decomposing bacteria further indicated that the dominant phyla were Actinobacteria and Proteobacteria, with overrepresented genera belonging to Vicinamibacteraceae and Streptomyces. Key straw-decomposing fungi were dominated by Ascomycota, with overrepresented genera belonging to Penicillium and Aspergillus. N application significantly increased the absolute abundance of key straw-decomposing microorganisms; however, this increase was reduced by the rhizosphere effect. Overall, our study identified key straw-decomposing microorganisms in straw-amended soil and demonstrated that they exhibited opposite responses to N application and the rhizosphere effect. [ABSTRACT FROM AUTHOR]

Retinopathy of prematurity (ROP) is a proliferative vascular ailment affecting the retina. It is the main risk factor for visual impairment and blindness in infants and young children worldwide. If left undiagnosed and untreated, it can progress to retinal detachment and severe visual impairment. Geographical variations in ROP epidemiology have emerged over recent decades, attributable to differing levels of care provided to preterm infants across countries and regions. Our understanding of the causes of ROP, screening, diagnosis, treatment, and associated risk factors continues to advance. This review article aims to present the pathophysiological mechanisms of ROP, including its treatment. Specifically, it delves into the latest cutting-edge treatment approaches targeting hypoxia and redox signaling pathways for this condition. [ABSTRACT FROM AUTHOR]

Well logging data contain abundant information on stratigraphic sedimentology. Artificial identification is usually strongly subjective and time-consuming. Pattern recognition algorithms like SVM may not adequately capture the depth-related variations in logging curve shape. This paper defines logging sedimentary microfacies as unidirectional 2D image segmentation and builds an improved U-net model to meet the requirements of logging sedimentary microfacies acquaintance. The proposed model contains three characteristics: (1) It removes pooling layers to avoid the loss of spatial features; (2) it utilizes multi-scale convolution blocks for mining multi-scale spatial features in logging data; (3) a one dimensional convolution layer is added to achieve deep single-direction segmentation. In this model, a 2D image composed of several standardized logging curves is used as the network's input. In addition, we propose an effective data enhancement method and calculate the geometric feature attributes of well logging curves to reduce the complexity of the data characteristics. We tested the model on manually annotated validation datasets. Our method automatically measures fine sedimentary microfacies characteristics, improving the accuracy of sedimentary microfacies identification and achieving the desired result. Additionally, the model was tested on unlabeled actual logging data, which shows the generalizability of this deep learning method on different datasets. [ABSTRACT FROM AUTHOR]

The Qinling Shan is located between the North China Craton and the South China Block. Not only is investigating the exhumation process of the Qinling Shan beneficial for comprehending the tectonic collision history of mainland China but also for enhancing our understanding of the development of the Yellow and Yangtze Rivers. Previous studies have predominantly focused on bedrock analysis in the Qinling Shan. However, modern fluvial detrital samples offer a more extensive range of thermal history information. Therefore, we gathered modern fluvial debris samples from the Hanjiang River, which is the largest river in the South Qinling Shan. Subsequently, we conducted apatite fission-track analysis using the laser ablation inductively coupled plasma mass spectrometry (LA-ICP-MS) method. A total of 214 valid track ages were obtained, with an age distribution ranging from 9.5 to 334.0 Ma. The Density Plotter software was employed to decompose the data and generate four prominent age peaks: 185, 103, 69, 35, and 12 Ma. The exhumation events of the Early Jurassic (185 Ma) and Cretaceous (103–69 Ma) in the Southern Qinling Shan were strongly influenced by the collision between the South China Block and the North China Craton, as well as the subduction of the West Pacific Plate, respectively. The far-field effect of the collision between the Indian Plate and the southern Asian continent influenced the exhumation of the South Qinling Shan during the Late Eocene (35 Ma) and Middle Miocene (12 Ma), respectively. In conjunction with the reported findings, we comprehensively analyzed the geological implications of the Mesozoic and Cenozoic exhumations of the Qinling Shan. The Qinling Shan emerged as a watershed between the Ordos and Sichuan Basins in the early Mesozoic and Cenozoic, respectively. However, the exhumation and expansion of the Tibetan Plateau has forced the Yangtze River to flow eastward, resulting in its encounter with the South Qinling Shan in the late Cenozoic. The exhumation of the Qinling Shan has resulted in fault depression in the southern Ordos Basin. This geological process has also contributed to the widespread arid climatic conditions in the basin. During the Miocene, the Yellow River experienced limited connectivity due to a combination of structural and climatic factors. As a result, the Qinling Shan served as an obstacle, dividing the connected southern Yangtze River from the northern segment of the Yellow River during the late Cenozoic era. [ABSTRACT FROM AUTHOR]

This paper tackles the problem of the signal‐to‐noise ratio estimation for cyclic prefix (CP)‐Less orthogonal frequency division multiplexing (OFDM) system in the presence of Gaussian noise over multipath fading channels. First, we introduce the cyclic correlation of the CP‐Less OFDM signal with CP, and analyze the cyclic correlations for Gaussian noise and received signal. Second, we isolate the Gaussian noise power from the signal power. Finally, we obtain the close form expression of SNR estimation by using cyclic correlations. Computer simulation results verify the effectiveness of the proposed method. Key Points: A cyclic prefix (CP)‐less orthogonal frequency division multiplexing system is presentedAlignment signals are designed to eliminate inter symbol interference caused insufficient CP lengthCyclic correlation of CP is used to estimate signal‐to‐noise ratio [ABSTRACT FROM AUTHOR]

Aiming at the problems of low reconstruction rate and poor reconstruction precision when reconstructing sparse signals in wireless sensor networks, a sparse signal reconstruction algorithm based on the Limit-Broyden-Fletcher-Goldfarb-Shanno (L-BFGS) quasi-Newton method is proposed. The L-BFGS quasi-Newton method uses a two-loop recursion algorithm to find the descent direction dk directly by calculating the step difference between m adjacent iteration points, and a matrix Hk approximating the inverse of the Hessian matrix is constructed. It solves the disadvantages of BFGS requiring the calculation and storage of Hk, reduces the algorithm complexity, and improves the reconstruction rate. Finally, the experimental results show that the L-BFGS quasi-Newton method has good experimental results for solving the problem of sparse signal reconstruction in wireless sensor networks. [ABSTRACT FROM AUTHOR]

Reservoirs in the dolomites of the Middle Permian Qixia Formation in the Sichuan Basin are currently important oil and gas exploration objects in China. However, the questions concerning the sources of the dolomitized fluids and the control factors of the Qixia hydrothermal dolomites remain unclear. In this study, the original hydrothermal dolomites (the replacement dolomites (RDs) and saddle dolomites (SDs)) from the Qixia Formation in the southwestern Sichuan Basin (the PR1 well and Baoxing section) were mainly examined using novel in situ carbonate U-Pb dating with clumped isotopes (∆47). Our results show that the U-Pb ages of the latest SDs from the PR1 well (located in the middle zone of the Emeishan large igneous province (ELIP) and distanced from the Orogenic Belt of Longmenshan) are 257.9–251.0 Ma, coincident with the period of main activity of the ELIP. Combined with the previous U-Pb dating, we propose that the high-temperature T∆47 (82.2–108.4 °C and 127.5–205.9 °C) recorded for SDs from the PR1 well and Baoxing section may have responded to ELIP activity and Longmenshan orogeny activity, respectively. In addition, in the entire southwestern Sichuan Basin, the RDs and SDs yield similar δ13C and δ18O values, indicating that the dolomites were formed by hydrothermal fluids of similar sources, with marine hydrothermal fluids being a highly possible source. Finally, this study proposes a new hydrothermal dolomite genesis model for the Qixia Formation, emphasizing that the formation of hydrothermal dolomites mainly depends on the proximity to tectonic thermal events in space and time. [ABSTRACT FROM AUTHOR]

The adsorption desalination and cooling system (ADCS), a promising technology for alleviating water scarcity, requires adsorbents with high performance, low cost, and low energy consumption. Enhancing the operating efficiency and minimizing the energy consumption of the system entails improving the adsorption performance and thermal conductivity of adsorbents. In this study, nanoparticles (NP) embedded silica gel (SG) composite adsorbents with CaCl2 were synthesized for use in ADCS. The effects of nano-Fe, nano-Cu and carbon nanotubes (CNT) as SG thermal conductivity enhancers were thoroughly compared through microscopic properties, thermal properties and adsorption properties. The experimental results show that SG/CNT/CaCl2 composite performs the largest specific surface area and pore volume of 180.72 m2 g−1 and 0.13 cm3 g−1. Scanning electron microscopy (SEM), accelerated surface area and porosimetry (ASAP) and constant thermal analyzer (TCA) were used to characterize the various performance of the enhanced adsorbents comprehensively. SG/CNT/CaCl2 sample exhibits high thermal conductivity and thermal diffusion coefficient, measuring as high as 0.664 W m−1 K−1 and 0.701 × 10−6 m2 s−1, respectively. Based on dynamic water adsorption performance tests, the SG/CNT/CaCl2 composite had an adsorption capacity of 0.665 g g−1, five times higher than SG. The composite's adsorption capacity and thermal conductivity did not decline significantly during cycling, indicating a high degree of sustainability. Therefore, these results imply that the nanoparticles-embedded SG/CaCl2 adsorbent with excellent integrated properties has promising prospects in adsorption desalination systems. Highlights: The silica gel/nanoparticles composites adsorbent with CaCl2 are synthesized. The thermal conductivity of silica gel/CNT/CaCl2 composite is 0.664 W m−1 K−1. The adsorption capacity for composite with CNT/CaCl2 is five times higher than silica gel. [ABSTRACT FROM AUTHOR]