[Expansion of the genotypic and phenotypic spectrum and treatment of four children with Steroid-resistant nephrotic syndrome due to variants of TRPC6 gene].

OBJECTIVE: To summarize the clinical and genetic characteristics, treatment and prognosis of four children with Steroid-resistant nephrotic syndrome (SRNS) due to variants of TRPC6 gene. METHODS: Clinical data of four children with SRNS admitted to Children's Hospital Affiliated to Zhengzhou University between May 2020 and August 2022 were collected. Peripheral blood samples were collected from the children and their parents, and whole exome sequencing was carried out. Sanger sequencing was used to verify the pathogenicity of the candidate variants among the children and their parents. RESULTS: All of the four children were found to harbor heterozygous variants of the TRPC6 gene, including c.523C>T (p.R175W), c.1327T>A (p.F443I), c.430G>C (p.E144Q) (unreported previously), and c.523C>T (p.R175W), which were all missense variants. Two of the children have shown a simple type, whilst two have shown a nephritis type, none had extrarenal phenotype. Comprehensive renal pathology of three children revealed focal segmental glomerulosclerosis (FSGS). Two children were treated with steroids combined with calcineurin inhibitors (CNIs), among whom one showed significant improvement in symptoms. CONCLUSION: Discoveries of the novel c.430G>C variant and the new SRNS phenotype of the c.1327T>A variant have expanded the mutational and phenotypic spectrum of the TRPC6 gene, which has provided a reference for clinical diagnosis and genetic counseling for the families.

Tunable single frequency Hz-magnitude narrow linewidth Brillouin fiber laser based on parity-time symmetry.

An Hz-magnitude ultra-narrow linewidth single-frequency Brillouin fiber laser (BFL) is proposed and experimentally demonstrated. The single frequency of the laser is selected by parity-time (PT) symmetry, which consists of a stimulated Brillouin scatter (SBS) gain path excited by a 24 km single-mode fiber (SMF) and an approximately equal length loss path tuned with a variable optical attenuator (VOA). These paths are coupled through a fiber Bragg grating (FBG) into a wavelength space. Accomplishing single-frequency oscillation involves the precise adjustment of polarization control (PC) and VOA to attain the PT broken phase. In the experiment, the linewidth of the proposed BFL is 9.58 Hz. The optical signal-to-noise ratio (OSNR) reached 78.89 dB, with wavelength and power fluctuations of less than 1pm and 0.02 dB within one hour. Furthermore, the wavelength can be tuned from 1549.9321 nm to 1550.2575 nm, with a linewidth fluctuation of 1.81 Hz. The relative intensity noise (RIN) is below -74 dB/Hz. The proposed ultra-narrow single-frequency BFL offers advantages such as cost-effectiveness, ease of control, high stability and excellent output characteristics, making it highly promising for the applications in the coherent detection.

Quantifying uncertainty: Air quality forecasting based on dynamic spatial-temporal denoising diffusion probabilistic model.

Air pollution constitutes a substantial peril to human health, thereby catalyzing the evolution of an array of air quality prediction models. These models span from mechanistic and statistical strategies to machine learning methodologies. The burgeoning field of deep learning has given rise to a plethora of advanced models, which have demonstrated commendable performance. However, previous investigations have overlooked the salience of quantifying prediction uncertainties and potential future interconnections among air monitoring stations. Moreover, prior research typically utilized static predetermined spatial relationships, neglecting dynamic dependencies. To address these limitations, we propose a model named Dynamic Spatial-Temporal Denoising Diffusion Probabilistic Model (DST-DDPM) for air quality prediction. Our model is underpinned by the renowned denoising diffusion model, aiding us in discerning indeterminacy. In order to encapsulate dynamic patterns, we design a dynamic context encoder to generate dynamic adjacency matrices, whilst maintaining static spatial information. Furthermore, we incorporate a spatial-temporal denoising model to concurrently learn both spatial and temporal dependencies. Authenticating our model's performance using a real-world dataset collected in Beijing, the outcomes indicate that our model eclipses other baseline models in terms of both short-term and long-term predictions by 1.36% and 11.62% respectively. Finally, we conduct a case study to exhibit our model's capacity to quantify uncertainties.

Dynamic Serpentine Convolution with Attention Mechanism Enhancement for Beef Cattle Behavior Recognition.

Behavior recognition in beef cattle is a crucial component of beef cattle behavior warning and intelligent farming. Traditional beef cattle behavior recognition faces challenges in both difficulty in identification and low accuracy. In this study, the YOLOv8n_BiF_DSC (Fusion of Dynamic Snake Convolution and BiFormer Attention) algorithm was employed for the non-intrusive recognition of beef cattle behavior. The specific steps are as follows: 45 beef cattle were observed using a fixed camera (A LINE OF DEFENSE) and a mobile phone (Huawei Mate20Pro) to collect and filter posture data, yielding usable videos ranging from 1 to 30 min in length. These videos cover nine different behaviors in various scenarios, including standing, lying, mounting, fighting, licking, eating, drinking, walking, and searching. After data augmentation, the dataset comprised 34,560 samples. The convolutional layer (CONV) was improved by introducing variable convolution and dynamic snake-like convolution modules. The dynamic snake-like convolution, which yielded the best results, expanded the model's receptive field, dynamically perceived key features of beef cattle behavior, and enhanced the algorithm's feature extraction capability. Attention mechanism modules, including SE (Squeeze-and-Excitation Networks), CBAM (Convolutional Block Attention Module), CA (Coordinate Attention), and BiFormer (Vision Transformer with Bi-Level Routing Attention), were introduced. The BiFormer attention mechanism, selected for its optimal performance, improved the algorithm's ability to capture long-distance context dependencies. The model's computational efficiency was enhanced through dynamic and query-aware perception. Experimental results indicated that YOLOv8n_BiF_DSC achieved the best results among all improved algorithms in terms of accuracy, average precision at IoU 50, and average precision at IoU 50:95. The accuracy of beef cattle behavior recognition reached 93.6%, with the average precision at IoU 50 and IoU 50:95 being 96.5% and 71.5%, respectively. This represents a 5.3%, 5.2%, and 7.1% improvement over the original YOLOv8n. Notably, the average accuracy of recognizing the lying posture of beef cattle reached 98.9%. In conclusion, the YOLOv8n_BiF_DSC algorithm demonstrates excellent performance in feature extraction and high-level data fusion, displaying high robustness and adaptability. It provides theoretical and practical support for the intelligent recognition and management of beef cattle.

Renal abscess complicating acute pyelonephritis in children: Two cases report and literature review.

RATIONALE: To describe the diagnostic and treatment approaches of renal abscesses complicated with acute pyelonephritis in children. PATIENT CONCERNS: Two children presented with fever, vomiting, and abdominal pain with no typical manifestations, like frequent urination, urgency, dysuria, hematuria, foam urine, and lumbago. Renal abscess complicating acute pyelonephritis was diagnosed by B-ultrasound and computed tomography enhancement. Moreover, inflammatory markers were elevated significantly, but routine blood and urine cultures were repeatedly negative. The empirical anti-infection therapy had no obvious effect. A pathogenic diagnosis was confirmed in case two, and macro gene detection in blood and urine guided the follow-up treatment. DIAGNOSES: Both children were diagnosed with acute gastroenteritis on admission, but renal abscess complicating acute pyelonephritis were diagnosed by imaging examination. INTERVENTIONS: Both children were given anti-infection therapy of third-generation cephalosporin, which had no obvious effect. Routine blood and urine cultures were repeatedly negative. Case one was changed to piperacillin sodium tazobactam. We further carried out blood and urinary metagenomic next-generation sequencing detection for case two. Meanwhile, meropenem and linezolid anti-infection treatment was given. The results showed overlapping infection with Escherichia coli and Enterococcus faecalis. According to the genetic test results, amoxicillin clavulanate potassium combined with nitrofurantoin were prescribed after discharge. OUTCOMES: Clinical symptoms of the 2 children disappeared, the infection was controlled, and imaging showed that renal abscess complicated with acute pyelonephritis disappeared. LESSONS: The clinical spectrum of renal abscess complicating acute pyelonephritis is vague, with no specific manifestations, and can be easily misdiagnosed. B-ultrasound and computed tomography enhancement are helpful in making a definite diagnosis. Moreover, the sensitivity of routine culture is low, and metagenomic next-generation sequencing might be helpful to detect pathogenic microorganisms and guided treatment. Early treatment with broad-spectrum antibiotics might have favorable outcomes.

Gain equalization for a few-mode erbium-doped fiber amplifier supporting eight spatial modes.

A trench-assisted ring few-mode erbium-doped fiber amplifier (FM-EDFA) supporting eight spatial modes is designed and proposed in this work. The gain equalization for the FM-EDFA is achieved by selecting the appropriate doping radius and concentration using a particle swarm optimization (PSO) algorithm when only the pump in the fundamental mode (L P 01) is applied. When the signals in the eight spatial modes are simultaneously amplified, the average modal gain is about 20 dB, and the DMG is less than 0.3 dB for a signal at 1550 nm. Considering the gain competition of six wavelength signals, the modal gain and DMG are more than 20 and 1 dB, respectively. In addition, the tolerance analysis for manufacturing with this design is also discussed. For a fluctuation in the refractive index, the average modal gain is about 19.5 dB, and the DMG is 0.77 dB, indicating that the structure has good fabrication tolerance.

Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature.

BACKGROUND: WDR35 variants are known to cause a rare autosomal recessive disorder-Cranioectodermal dysplasia (CED). The CED patients are commonly present with facial dysmorphisms (frontal bossing and low-set ears), sagittal craniosynostosis, growth retardation, dolichocephaly, skeletal deformities (brachydactyly, terminal hypoplasia of the fingers and narrow thorax), ectodermal abnormalities (sparse hair, and finger/toe nail dysplasia), nephronophthisis, retinal dystrophy and hepatic fibrosis. Diagnosis of CED can be difficult because it presents with high genetic heterogeneity. However, our understanding of the phenotype of CED caused by WDR35 variants could be more explicit, and the correlation between genotype and phenotype needs further improvement. CASE PRESENTATION: We report a case of the first Chinses patient of CED caused by WDR35 variants, a 3-year-and-3-month-old patient, who was admitted to our hospital with frontal bossing, growth retardation, low set ears, dolichocephaly, sparse hair, and small limbs, abnormal renal function, and moderate anemia. The child showed a novel phenotype of the ectopic testis except for presenting typical CED characteristics, and he was identified with novel compound heterozygous WDR35 variants (c.2590 C > T, p.Gln864* and c.2408_2416del, p.Asn803_Ala805del; NM_001006657). He was given iron succinate and erythropoietin to improve anemia and to inhibit repeated metabolic acidosis and hyperkalemia through acid correction, diuretic, and potassium-lowering treatments. The parents refused to accept renal replacement therapy for their child and were discharged voluntarily. CONCLUSIONS: This is the first reported case of the WDR35 variants that can lead to CED and ectopic testis, which is also the first Chinese patient associated with WDR35 variants. This study expands our understanding of genotype-phenotype association in patients with WDR35 variants and provides genetic counseling for prevention and intervention in this genetic disorder. Neonatal carriers should be followed up for kidney and CED-related diseases to detect warning signs.

YOLOv5-KCB: A New Method for Individual Pig Detection Using Optimized K-Means, CA Attention Mechanism and a Bi-Directional Feature Pyramid Network.

Individual identification of pigs is a critical component of intelligent pig farming. Traditional pig ear-tagging requires significant human resources and suffers from issues such as difficulty in recognition and low accuracy. This paper proposes the YOLOv5-KCB algorithm for non-invasive identification of individual pigs. Specifically, the algorithm utilizes two datasets-pig faces and pig necks-which are divided into nine categories. Following data augmentation, the total sample size was augmented to 19,680. The distance metric used for K-means clustering is changed from the original algorithm to 1-IOU, which improves the adaptability of the model's target anchor boxes. Furthermore, the algorithm introduces SE, CBAM, and CA attention mechanisms, with the CA attention mechanism being selected for its superior performance in feature extraction. Finally, CARAFE, ASFF, and BiFPN are used for feature fusion, with BiFPN selected for its superior performance in improving the detection ability of the algorithm. The experimental results indicate that the YOLOv5-KCB algorithm achieved the highest accuracy rates in pig individual recognition, surpassing all other improved algorithms in average accuracy rate (IOU = 0.5). The accuracy rate of pig head and neck recognition was 98.4%, while the accuracy rate for pig face recognition was 95.1%, representing an improvement of 4.8% and 13.8% over the original YOLOv5 algorithm. Notably, the average accuracy rate of identifying pig head and neck was consistently higher than pig face recognition across all algorithms, with YOLOv5-KCB demonstrating an impressive 2.9% improvement. These results emphasize the potential for utilizing the YOLOv5-KCB algorithm for precise individual pig identification, facilitating subsequent intelligent management practices.

Alpha-Hemolysin from Staphylococcus aureus Obstructs Yeast-Hyphae Switching and Diminishes Pathogenicity in Candida albicans.

The use of antibiotics can disrupt the body's natural balance and increase the susteptibility of patients towards fungal infections. Candida albicans is a dimorphic opportunistic fungal pathogen with niches similar to those of bacteria. Our aim was to study the interaction between this pathogen and bacteria to facilitate the control of C. albicans infection. Alpha-hemolysin (Hla), a protein secreted from Staphylococcus aureus, causes cell wall damage and impedes the yeast-hyphae transition in C. albicans. Mechanistically, Hla stimulation triggered the formation of reactive oxygen species that damaged the cell wall and mitochondria of C. albicans. The cell cycle was arrested in the G0/G1 phase, CDC42 was downregulated, and Ywp1 was upregulated, disrupting yeast hyphae switching. Subsequently, hyphae development was inhibited. In mouse models, C. albicans pretreated with Hla reduced the C. albicans burden in skin and vaginal mucosal infections, suggesting that S. aureus Hla can inhibit hyphal development and reduce the pathogenicity of candidiasis in vivo.

Factors associated with blood lead levels in children in Shenyang, China: a cross-sectional study.

BACKGROUND: Although blood lead levels (BLLs) in children are gradually decreasing, low-concentration lead exposure can still exert adverse effects. We studied the factors that affect BLLs in children in Shenyang, China. METHODS: We conducted a cross-sectional study by administering structured questionnaires on family demographics and food intake. The concentrations of lead in venous blood were determined by graphite furnace atomic absorption spectrometry. RESULTS: A total of 273 children aged 1-6 years were enrolled. The geometric mean (geometric standard deviation) of BLLs was 24.94 (12.70) µg/L in boys and 23.75 (11.34) µg/L in girls. The prevalence of BLLs of ≥35 µg/L was 22.7% and was mainly observed in children aged under 3 years. Often hand washing before meals was protective against BLLs ≥20 µg/L (adjusted OR: 0.427, 95%CI: 0.238-0.767, p = 0.004). Consumption of puffed grains and eggs had an adjusted OR (95%CI) for BLLs ≥20 µg/L of 1.714 (1.012-2.901) (p = 0.045) and 1.787 (1.000-3.192) (p = 0.050), respectively. CONCLUSIONS: BLLs of children in Shenyang are still higher than in developed countries. Consumption of puffed grains and eggs is associated with higher BLLs. Often hand washing before meals may be protective against high BLLs.

Sample-to-Answer and Routine Real-Time RT-PCR: A Comparison of Different Platforms for SARS-CoV-2 Detection.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is spreading all over the world and has caused millions of deaths. Several sample-to-answer platforms, including Cepheid Xpert Xpress SARS-CoV-2 (Xpert Xpress), have received emergency use authorization for SARS-CoV-2 nucleic acid detection as a point of care test in the United States. However, their application niche is unclear when compared with real-time RT-PCR assays cleared by the National Medical Products Administration in China. In this study, the clinical performance, sensitivity, and workflow of Xpert Xpress and two real-time RT-PCR kits (BioGerm kit and Sansure kit) were evaluated by the specimens from 86 symptomatic patients. The positive percent agreement of Xpert Xpress was 100% compared with 96.15% for the BioGerm kit and 90% for the Sansure kit. The negative percent agreement was 100% for all three assays. The limit of detection is 100 copies/mL for Xpert Xpress and 500 copies/mL for the BioGerm kit and Sansure kit. By serially diluting five positive specimens, the Xpert Xpress had better detection capability. In the workflow and throughput analysis, the turnaround time was 51 minutes for Xpert Xpress, 150 minutes for the BioGerm kit, and 210 minutes for the Sansure kit. This study provides some indication for diagnosis methods selection.

Role of piwi-interacting RNA-651 in the carcinogenesis of non-small cell lung cancer.

Piwi-interacting RNAs (piRNAs/piRs) are small non-coding RNAs that can serve important roles in genome stability by silencing transposable genetic elements. piR651, one of these novel piRNAs, regulates a number of biological functions, as well as carcinogenesis. Previous studies have reported that piR651 is overexpressed in human gastric cancer tissues and in several cancer cell lines, including non-small cell lung cancer (NSCLC) cell lines. However, the role of piRNAs in carcinogenesis has not been clearly defined. In the present study, a small interfering RNA inhibitor of piR651 was transfected into the NSCLC A549 and HCC827 cell lines to evaluate the effect of piR651 on cell growth. The association between piR651 expression and apoptosis was evaluated by flow cytometry and western blot analysis. Wound-healing and Transwell migration and invasion assays were used to determine the effect of piR651 on the migration and invasion of NSCLC cell lines. The results revealed that inhibition of piR651 inhibited cell proliferation and significantly increased the apoptotic rate compared with the negative control (NC), as well as altering the expression of apoptosis-associated proteins. There were fewer migrating and invading cells in the piR651-inhibited group than in the NC group in the Transwell assays. Furthermore, in the wound-healing assay, the wound remained wider in the piR651 inhibitor group, suggesting decreased cell migration compared with that in the NC group. The results of the present study demonstrate that piR651 potentially regulates NSCLC tumorigenic behavior by inhibiting cell proliferation, migration and invasion and by inducing apoptosis. Therefore, piR651 is a potential cancer diagnosis marker.

New technique: Development of a large-scale isolation chamber system for the safe and humane care of medium-sized laboratory animals harboring infectious diseases.

The close phylogenetic relationship between humans and non-human primates makes non-human primates an irreplaceable model for the study of human infectious diseases. In this study, we describe the development of a large-scale automatic multi-functional isolation chamber for use with medium-sized laboratory animals carrying infectious diseases. The isolation chamber, including the transfer chain, disinfection chain, negative air pressure isolation system, animal welfare system, and the automated system, is designed to meet all biological safety standards. To create an internal chamber environment that is completely isolated from the exterior, variable frequency drive blowers are used in the air-intake and air-exhaust system, precisely controlling the filtered air flow and providing an air-barrier protection. A double door transfer port is used to transfer material between the interior of the isolation chamber and the outside. A peracetic acid sterilizer and its associated pipeline allow for complete disinfection of the isolation chamber. All of the isolation chamber parameters can be automatically controlled by a programmable computerized menu, allowing for work with different animals in different-sized cages depending on the research project. The large-scale multi-functional isolation chamber provides a useful and safe system for working with infectious medium-sized laboratory animals in high-level bio-safety laboratories.