A multi-verse optimizer-based CNN-BiLSTM pixel-level detection model for peanut aflatoxins.

Peanuts are highly susceptible to contamination by aflatoxins, posing a significant threat to human health. This study aims to enhance the accuracy of pixel-level aflatoxin detection in hyperspectral images using an optimized deep learning method. This study developed a CNN-BiLSTM fusion model optimized by the Multi-Verse Optimizer (MVO) algorithm, specifically designed to detect aflatoxins with high precision. The optimized CNN-BiLSTM model was fine-tuned using aflatoxin spectral data at varying concentrations. The results indicate that the fine-tuned MVO-CNN-BiLSTM model achieved the best performance, with a validation accuracy of 94.92 % and a recall rate of 95.59 %. The accuracy of this model is 6.93 % and 3.6 % higher than machine learning methods such as SVM and AdaBoost, respectively. Additionally, it is 4.18 % and 3.08 % higher than deep learning methods such as CNN and the CNN-LSTM fusion model, respectively. This method enhances pixel-level aflatoxin detection accuracy, supporting the development of online detection devices.

Recent advances of multifunctional zwitterionic polymers for biomedical application.

Zwitterionic polymers possess equal total positive and negative charges in the repeating units, making them electrically neutral overall. This unique property results in superhydrophilicity, which makes the zwitterionic polymers highly effective in resisting protein adsorption, thus endowing the drug carriers with long blood circulation time, inhibiting thrombus formation on biomedical devices in contact with blood, and ensuring the good sensitivity of sensors in biomedical application. Moreover, zwitterionic polymers have tumor-targeting ability and pH-responsiveness, rendering them ideal candidates for antitumor drug delivery. Additionally, the high ionic conductivity of zwitterionic polymers makes them an important raw material for ionic skin. Zwitterionic polymers exhibit remarkable resistance to bacterial adsorption and growth, proving their suitability in a wide range of biomedical applications such as ophthalmic applications, and wound dressings. In this paper, we provide an in-depth analysis of the different structures and characteristics of zwitterionic polymers and highlight their unique qualities and suitability for biomedical applications. Furthermore, we discuss the limitations and challenges that must be overcome to realize the full potential of zwitterionic polymers and present an optimistic perspective for zwitterionic polymers in the biomedical fields. STATEMENT OF SIGNIFICANCE: Zwitterionic polymers have a series of excellent properties such as super hydrophilicity, anti-protein adsorption, antibacterial ability and good ionic conductivity. However, biomedical applications of multifunctional zwitterionic polymers are still a major field to be explored. This review focuses on the design and application of zwitterionic polymers-based nanosystems for targeted and responsive delivery of antitumor drugs and cancer diagnostic agents. Moreover, the use of zwitterionic polymers in various biomedical applications such as biomedical devices in contact with blood, biosensors, ionic skin, ophthalmic applications and wound dressings is comprehensively described. We discuss current results and future challenges for a better understanding of multifunctional zwitterionic polymers for biomedical applications.

Single-cell RNA sequencing reveals the heterogeneity of hepatic non-parenchymal cell responses to chronic PFO5DoDA exposure in male mice.

Perfluoroalkyl ether carboxylic acids (PFECA) have emerged as novel alternatives to legacy per- and polyfluoroalkyl substances (PFAS). Existing research has revealed hepatoxicity induced by various PFAS, including PFECA. However, these studies have primarily focused on overall changes in whole liver tissue, particularly in hepatocytes, with the impact of PFAS on diverse liver non-parenchymal cells (NPCs) still inadequately understood. In the present study, we examined the heterogeneous responses of hepatic NPCs following exposure to perfluoro-3,5,7,9,11-pentaoxadodecanoic acid (PFO5DoDA), a type of PFECA, by administering PFO5DoDA (5 µg/L)-contaminated water to male mice for one year. Single-cell RNA sequencing (scRNA-seq) of 15 008 cells from the liver identified 10 distinct NPC populations. Notably, although relative liver weight remained largely unchanged following exposure to 5 µg/L PFO5DoDA, there was an observed increase in proliferating cells, indicating that proliferating NPCs may contribute to the hepatomegaly frequently noted in PFAS-exposed livers. There was also a considerable alteration in the composition of hepatic NPCs. Specifically, the total number of B cells decreased substantially, while many other cells, such as monocytes and macrophages, increased after PFO5DoDA exposure. In addition, interactions among the hepatic NPC populations changed variously after PFO5DoDA exposure. The findings emphasize the heterogeneity in the responses of hepatic NPCs to PFO5DoDA exposure. Taken together, the changes in immune cell populations and their intercellular interactions suggest that PFO5DoDA disrupts immune homeostasis in the liver. These findings offer new insights into the cellular mechanisms of PFAS-induced liver damage.

Accumulation and glucocorticoid signaling suppression by four emerging perfluoroethercarboxylic acids based on animal exposure and cell testing.

Various perfluoroethercarboxylic acids (PFECA) have emerged as next-generation replacements of legacy per- and polyfluoroalkyl substances (PFAS). However, there is a paucity of information regarding their bioaccumulation ability and hazard characterization. Here, we explored the accumulation and hepatotoxicity of four PFECA compounds (HFPO-DA, HFPO-TA, PFO4DA, and PFO5DoDA) in comparison to perfluorooctanoic acid (PFOA) after chronic low-dose exposure in mice. Except for HFPO-DA, the levels of all tested PFAS in the liver exceeded that in serum. High molecular weight PFECA compounds (PFO5DoDA and HFPO-TA) showed stronger accumulation capacity and longer half-lives (t1/2) than low molecular weight PFECA compounds (HFPO-DA and PFO4DA) and even legacy PFOA. Although hepatomegaly is a common apical end point of PFAS exposure, the differentially expressed gene (DEG) profiles in the liver suggested significant differences between PFOA and the four PFECA compounds. Gene enrichment analysis supported a considerable inhibitory effect of PFECA, but not PFOA, on the glucocorticoid receptor (GR) signaling pathway. Both HFPO-TA and PFO5DoDA demonstrated a more pronounced ability to perturb RNA expression profiles in vivo and to suppress GR signaling in vitro compared to HFPO-DA and PFO4DA. Calculated reference doses (RfDs) emphasized the potential hazard of PFECA to human health. Overall, our findings indicate that PFECA alternatives do not ease the concerns raised from legacy PFAS pollution.

PFO5DoDA disrupts hepatic homeostasis primarily through glucocorticoid signaling inhibition.

Legacy per- and polyfluoroalkyl substances (PFASs) are a worldwide health concern due to their potential bioaccumulation and toxicity in humans. A variety of perfluoroether carboxylic acids (PFECAs) have been developed as next-generation replacements of legacy PFASs. However, information regarding their possible environmental and human health risks is limited. In the present study, we explored the effects of PFECAs on mice based on long-term exposure to environmentally relevant doses of perfluoro-3,5,7,9,11-pentaoxadodecanoic acid (PFO5DoDA). Results showed that PFECAs exposure suppressed many cellular stress signals and resulted in hepatomegaly. PFO5DoDA acted as an agonist of the peroxisome proliferator-activated receptor (PPAR) in vitro and modulated PPAR-dependent gene expression in the liver. Importantly, PFECAs had an inhibitory effect on the glucocorticoid receptor (GR), which may contribute to the extensive suppression of stress signals. Of note, the GR suppression induced by PFECAs was not reported by legacy perfluorooctanoic acid (PFOA). PFO5DoDA-induced changes in both GR and PPAR signals remodeled hepatic metabolic profiles, including decreased fatty acids and amino acids and increased ß-oxidation. Mechanistically, PFO5DoDA inhibited GR transactivation by degradation of GR proteins. Our results emphasize the potential risk of PFECAs to human health, which were introduced to ease concerns regarding legacy PFASs.

Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.

Congenital hydrocephalus (CH) is a severe birth defect, and genetics components is an important etiology. Whole-exome sequencing (WES) has been proven to be a feasible approach for prenatal diagnosis of CH. In this study, we carried out WES on three fetuses with cerebral ventriculomegaly. After bioinformation analysis and data filtering, three compound variants, c.919C>T(p.Arg307Ter)/c.1100del(p.Phe369fs) in FKTN, c.1449_1450insACAACG/c.1490G>C(p.Arg497Pro) in POMGNT1, and c.2690+1G>A/c.1447C>T(p.Arg483Cys) in LAMB1 were detected in the three fetuses. All the six variants were classified as likely pathogenic or pathogenic in accordance with the American College of Medical Genetics and Genomics-Association for Molecular Pathology guidelines. This study provides support for the potential of WES for the accurate prenatal diagnosis of fetal hydrocephalus and further demonstrated the genetic heterogeneity in patients with CH. The novel variants (c.1449_1450insACAACG and c.1490G>C in POMGNT1, c.2690+1G>A in LAMB1) expanded the gene mutational spectrum of CH and contributes to genetics counseling and pregnancy management.

[Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report].

A boy, aged 1 month, attended the hospital due to feeding difficulty and hypotonia. He had unusual facial features (prominent forehead, hypertelorism, ptosis of the lateral canthus, thin upper lip, and low-set ears), hypotonia, and a decreased score of neonatal behavioral neurological assessment. Heart ultrasound showed atrial septal defect. Cranial MRI showed widened supratentorial ventricle, cerebral cistern, and subarachnoid space. High-throughput whole-exome sequencing of the boy detected a hemizygous mutation, c.315_320delTGAGCG, in the CCDC22 gene, which came from his mother, while such mutation was not found in his father. The unusual facies, clinical manifestations, and inheritance pattern of this boy were consistent with the manifestations of Ritscher-Schinzel syndrome reported abroad. This is a report for the first time of a case of X-linked recessive Ritscher-Schinzel syndrome caused by the hemizygous mutation c.315_320delTGAGCG in the CCDC22 gene in Chinese population.

[Results of carrier screening and prenatal diagnosis for FMR1 gene in 819 cases].

OBJECTIVE: To determine the carrier rate of Fragile X mental retardation 1 gene (FMR1) mutants in women with a history of adverse pregnancy or childbirth, and to provide prenatal diagnosis for the carriers. METHODS: Peripheral blood samples were collected from women with a history of adverse pregnancy or childbirth, and the FMR1 gene cytosine-guanine-guanine repeat number (CGG)n was determined by triple-repeat primer polymerase chain reaction (TP-PCR) combined with capillary electrophoresis. Prenatal diagnosis was provided for the carriers during pregnancy. RESULTS: Among 819 samples, 9 gray zone repeats carriers and 10 premutation carriers were detected, which gave a prevalence of 1 in 91 and 1 in 82, respectively, with a total prevalence of 1 in 43. Prenatal diagnosis was provided during 7 pregnancies for 6 carriers. A female fetus with premutation (n = 30/57) and an affected male fetus with full mutation (n = 336) were detected. CONCLUSION: FMR1 gene testing in women with a history of adverse pregnancy or childbirth can facilitate genetic counseling and reproductive guidance for carriers of gray zone repeats and premutations. Prenatal diagnosis for carriers of premutation can facilitate reduction of the birth of children with fragile X syndrome.

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.

BACKGROUND: Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy. Prenatal diagnosis of CdCS is difficult due to the non-specific ultrasound features. And reports using array analysis are rare. This study presented the first retrospective analysis of prenatal series of CdCS fetuses diagnosed by single nucleotide polymorphism (SNP) array in China. CASE PRESENTATION: A total of 35,233 pregnant women were enrolled from Jan 2014 to April 2019 in our center, there are twelve 5p- cases with abnormal sonographic signs revealed by SNP array, giving an incidence of 0.034% (12/35,233). Clinical information and molecular basis included: maternal demographics, indications for invasive testing, sonographic findings and SNP array results. Among all the 5p- cases revealed, nine cases were diagnosed by both karyotyping and SNP array, three cases were detected only by SNP array. Half of our cases (6/12) had an isolated 5p terminal deletion, which sizes ranged from 9.0 Mb to 30 Mb. The other half of cases (6/12) characterized by unbalanced translocation, with sex ratio 7:5 (female: male), when combine the clinical features observed from this study and available literature, the most frequent anomaly observed in prenatal ultrasound examination of CdCS was cerebral abnormalities, accounted for 44.4% (16/36) of the existing cases. Features that are less consistent included: choroid plexus cyst (13.8%, 5/36), single umbilical artery (13.3%, 4/30), ventricular septal defect (11.1%, 4/36), hydrops fetalis (8.3%, 3/36), ascites (8.3%, 3/36), increased NT/NF (8.3%, 3/36), absent/severely hypoplastic nasal bone (5.5%, 2/36), in order. CONCLUSION: Prenatal findings such as cerebral abnormalities, absent/hypoplastic nasal bone, hydrops fetalis, ascites or encephalocele may act as suggestive signs of CdCS or other microdeletion/duplication syndromes. Combining typical karyotyping with chromosomal microarray analysis (CMA) is a definitive method for a precise diagnosis of CdCS and provides more accurate results in order to offer genetic counseling to families which need to deal with cryptic aberrations.

[Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case].

OBJECTIVE: To apply single nucleotide polymorphism array (SNP-array) for the diagnosis of Williams-Beuren syndrome (WBS) in a patient. METHODS: Chromosome G-banding and SNP-array were used to analyze a girl featuring mental retardation. RESULTS: The karyotypes of the child and her parents were all normal, but SNP-array showed a 1.9 Mb deletion at 7q11.23 in the patient. The same deletion was not found in her parents. CONCLUSION: The mental retardation and special facies of the girl were probably due to the 7q11.23 microdeletion. SNP-array has an important value for the diagnosis of mental retardation.

Parasitic loss suppression in photonic and plasmonic photovoltaic light trapping structures.

In this paper, we examine the optical loss mechanisms and mitigation strategies in classical photovoltaic light trapping structures consisting of diffractive gratings integrated with a backside reflector, which couple normal incident solar radiation into guided modes in solar cells to enhance optical absorption. Parasitic absorption from metal or dielectric backside reflectors is identified to be a major loss contributor in such light trapping structures. We elucidate the optical loss mechanism based on the classical coupled mode theory. Further, a spacer design is proposed and validated through numerical simulations to significantly suppress the parasitic loss and improve solar cell performance.