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Background Usher syndrome type 1B (USH1B) is a rare autosomal recessive disorder characterized by congenital deafness, vestibular dysfunction, and progressive retinitis pigmentosa (RP). Cystoid macular edema (CME) is a treatable complication of RP, but its management in young children with USH1B lacks evidence-based guidance. We report the first observation of spontaneous CME resolution in a pediatric USH1B patient managed conservatively with refractive correction and close follow-up, accompanied by accelerated axial elongation exceeding age-matched normative rates. Case presentation A 3-year-old male with a genetic diagnosis of USH1B (compound heterozygous MYO7A mutations: c.640G > A p.Gly214Arg and c.6026 C > T p.Ala2009Val) presented with bilateral CME detected on optical coherence tomography (OCT). Baseline examination revealed high myopia (spherical equivalent refraction: -6.50D right, -5.75D left) and axial lengths of 24.19 mm and 24.06 mm, respectively. Given the lack of pediatric treatment guidelines, a conservative approach with full-time refractive correction and close monitoring was adopted. After 9 months of follow-up, OCT demonstrated spontaneous and near-complete resolution of bilateral CME without any pharmacological or surgical intervention. Best-corrected visual acuity remained stable at 0.3–0.4. Notably, axial length increased to 24.31 mm and 24.21 mm, corresponding to a growth rate of 0.027 mm/month, which exceeds the age-matched normative range (0.016–0.025 mm/month). Conclusion This case provides the first documentation of spontaneous CME resolution in a pediatric USH1B patient managed conservatively. It suggests that a period of observation with refractive correction may be a prudent initial strategy, avoiding unnecessary exposure to potential treatment-related risks. The concurrent observation of accelerated axial elongation highlights the importance of including myopia progression monitoring in the ophthalmic follow-up of pediatric USH patients.

Background Basic leucine zipper (bZIP) proteins are important transcription factors in plants. To study the role of bZIP transcription factors in walnut explant browning, this study used bioinformatics software to analyze walnut bZIP gene family members, along with their transcript levels in different walnut tissues, to evaluate the transcriptional expression of this gene family during the primary culture of walnut explants and to reveal the mechanism of action of walnut bZIP genes in walnut explant browning. Results The results identified 65 JrbZIP genes in the walnut genome, which were divided into 8 subfamilies and distributed on 16 chromosomes. The results of transcriptome data analysis showed that there were significant differences in the expression of four genes, namely, JrbZIP55, JrbZIP70, JrbZIP72, and JrbZIP88 , under both vermiculite and agar culture conditions. There were multiple hormone (salicylic acid, abscisic acid, auxin, and gibberellin) signaling and regulatory elements that are responsive to stress (low temperature, stress, and defense) located in the promoter regions of JrbZIP55, JrbZIP70, JrbZIP72, and JrbZIP88 . The walnut JrbZIP55 protein and Arabidopsis bZIP42 protein are highly homologous, and the proteins interacting with Arabidopsis bZIP42 include the AT2G19940 oxidoreductases, which act on aldehyde or oxygen-containing donors. Conclusion It is speculated that JrbZIP55 may participate in the regulation of browning in walnut explants.

Background Plant responses to biotic and abiotic stresses are complex processes. Previous studies have shown that the LBD gene family plays important roles in plant growth and development as well as in plant defense against biotic and abiotic stresses. The expression of LBD genes was investigated in walnuts under biotic and abiotic stresses, revealing that LBD38-1 may be a key gene in the plant stress response. This study provides new insights into the roles of LBD genes in plant responses to biotic stress. Results Forty-nine members of the JrLBD gene family were identified in the walnut genome and classified into six subfamilies. Comparative homology analysis through phylogenetic trees revealed that the presence of Group I-a and Group VI plays an important role in resistance to stressors. The expression of walnut LBD genes under cold-temperature, high-temperature, mechanical damage, and biotic stresses was analyzed via transcriptome sequencing, and the expression of JrLBD38-1 in the Group VI subfamily was particularly prominent. According to transcriptome profile analysis, JrLBD38-1 is highly expressed in different tissues of walnuts, suggesting that it plays a regulatory role in the growth and development of different tissues. The function of the Gibberellin (GA) response element in the JrLBD38-1 promoter was further analyzed and verified. These findings confirmed that GA regulated JrLBD38-1 expression changes during Xanthomonas arboricola pv. juglandis infestation of walnut leaves. Conclusion Forty-nine walnut JrLBDs were identified and classified into six subfamilies. JrLBD38-1 has GA-inducible expression, is regulated by GA under pathogenic bacterial stress, and is involved in the response to biotic stress. This function of JrLBD38-1 provides new insights into walnut disease resistance mechanisms.

To explore the pathogenesis of high myopia (HM) using quantitative proteomics. The aqueous humor of patients with simple nuclear cataract and nuclear cataract complicated with HM (hereinafter referred to as “C” and “HM” groups, respectively) were collected. The isobaric tags for relative and absolute quantitation (iTRAQ)-based liquid chromatography–tandem mass spectrometry (LC–MS/MS) proteomics approach was employed to explore differentially expressed proteins (DEPs). Bioinformatics was used to interpret the proteomic results. Furthermore, the plasminogen (PLG) protein was confirmed by enzyme-linked immunosorbent assay (ELISA) as the candidate biomarker for HM through a receiver operating characteristic curve analysis. The study showed 32 upregulated and 26 downregulated proteins. The gene ontology analysis demonstrated that 58 DEPs corresponded to 325 biological processes, 33 cell components, and 45 molecular functional annotations. The Kyoto Encyclopedia of Genes and Genomes analysis showed that the upregulated DEPs were highly enriched in the coagulation and complement cascades, consistent with the gene set enrichment analysis. Our data suggested that some DEPs might be hallmarks of the development of HM. ELISA confirmed that the PLG expression levels were significantly upregulated in HM. This was a new study investigating alterations in protein levels and affected pathways in HM using iTRAQ-based quantitative proteomics. Our study provided a comprehensive dataset on overall protein changes and shed light on its potential molecular mechanism in human HM.

Background The walnut shell, which is composed of a large number of sclereids originating from the lignified parenchyma of the endocarp, plays an important role in fruit development and during harvesting and storage. The physical and chemical properties of walnut shells are closely related to the lignin content. Laccase is the key enzyme responsible for lignin biosynthesis by the polymerization of monolignols and plays crucial roles in secondary cell wall formation in plants. In this study, we screened and identified laccase family genes from the walnut genome and investigated the expression of laccase during endocarp lignification in walnut. Results A total of 37 laccase genes were screened from the walnut genome and distributed on nine chromosomes and classified into 6 subfamilies, among which subfamily IV showed distinct expansion. We observed that endocarp lignification started 44 days after flowering (DAF), and at later periods, the lignin content increased rapidly, with growth peaks at 44–50 DAF and 100–115 DAF. The lignification of the endocarp proceeded from the outside to the inside, as demonstrated by section staining in combination with endocarp staining. Furthermore, the changes in the expression of laccase family genes in the endocarp at different developmental stages were studied, and JrLACs showed different expression trends. The expression of nine genes showed significant increase after 44 DAF, and among these, JrLAC12–1 , JrLAC12–2 and JrLAC16 showed a significant change in expression at the lignification stage. A study of the expression of JrLACs in different tissues and at various endocarp developmental stages revealed, that most JrLACs were expressed at low levels in mature tissues and at high levels in young tissues, in particular, JrLAC12–1 showed high expression in the young stems. A significant positive correlation was found between the expression of JrLAC12–1 and the variation in the lignin content in the endocarp. Conclusion Laccase genes play an important role in the lignification of the walnut endocarp, and JrLACs play different roles during fruit development. This study shows that JrLAC12–1 may play a key role in the lignification of endocarp.

Purpose. To compare the refractive errors measured by the Spot photoscreener (with or without cycloplegia) to cycloplegic retinoscopy in 6- to 10-week-old infants. Materials and Methods. 101 right eyes from 101 healthy infants aged 6 to 10 weeks were recruited for this cross-sectional observational study. Refractive errors were measured using Spot photoscreener before and after cycloplegia, as well as cycloplegic retinoscopy. Comparisons between the refractive measurements were performed using one-way ANOVA with the post hoc Tukey HSD test or Kruskal–Wallis test with the Steel–Dwass test according to the data normality. Pearson’s correlation test and 95% confidence intervals were calculated. The agreement was evaluated using a Bland–Altman plot with 95% limits of agreement of the differences. Results. Spot photoscreener was found to underestimate the spherical equivalent by 2.33 Diopters (D) in these infants. Following the induction of cycloplegia, the spherical equivalent measured by Spot photoscreener was in excellent agreement with cycloplegic retinoscopy with the mean difference of 0.01 D. Spot photoscreener overestimated cylindrical parameter by 0.2 D with poor agreement with cycloplegic retinoscopy no matter whether cycloplegia was induced. It had good agreement with cycloplegic retinoscopy in the J0 vector than the J45 vector measurement. Conclusions. With the induction of cycloplegia, Spot photoscreener can accurately evaluate spherical equivalent in hyperopic infants with mild-to-moderate astigmatism. While it may provide valuable measurements of astigmatism, discrepancies in cylinder and axis should be taken into account.

The problem of resolver-to-digital conversion (RDC) is transformed into the problem of angle tracking control, and a phase locked loop (PLL) method based on PID controller is proposed in this paper. This controller comprises a typical PI controller plus an incomplete differential which can avoid the amplification of higher-frequency noise components by filtering the phase detection error with a low-pass filter. Compared with conventional ones, the proposed PLL method makes the converter a system of type III and thus the conversion accuracy can be improved. Experimental results demonstrate the effectiveness of the proposed method.

Background Cervical cancer is the fourth most common cancer among women worldwide with a serious threat to women’s health. Persistent infection with high-risk human papillomavirus (HR-HPV) has been identified as the main cause of cervical cancer. This study aimed to evaluate the prevalence and genotype distribution of HR-HPV among women in Jingzhou, Hubei province, China, which is critical for the government to formulate the precision strategies of cervical cancer screening and HPV vaccine innoculation. Methods To obtain the baseline data on the population-based prevalence and genotype distribution of HR-HPV infection among age groups and different years, a total of 51,720 women from 2018 to 2022 who went to Jingzhou Hospital Affiliated to Yangtze University for physical examination or gynacological treatment and received HR-HPV DNA genotyping were included in this retrospective study. The possible cervicovaginal infection of 15 high-risk HPV genotypes were analyzed by multiplex fluorescent real-time PCR, including HPV 16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59, 66, 68 and 82. Results The overall high-risk HPV prevalence among 51,720 women was 18.75% (9,698/51,720), and the HPV-positive rate of physical examination group (PEG) was 13.22% (541/4,091), which was lower than the HPV-positive rate of gynacological checkup group (GCG) 19.23% (9,157/47,629), with statistical difference (χ 2  = 89.069, P  < 0.01). The five most common prevalent genotypes were HPV52 (6.55%), HPV58 (3.41%), HPV16 (2.58%), HPV68 (1.82%) and HPV51 (1.57%). Single HPV infection was the predominant (14.36%), which compared to double (3.34%) and multiple (1.05%) infections. The HPV-positive rate was the highest in the > 60 age group (31.73%), and the lowest in the 31–40 age group (15.46%). Conclusions The prevalence of high-risk HPV infection among women in Jingzhou area was 18.75%. HPV52, HPV58 and HPV16 genotypes were the most common. The higher prevalence was in the > 60 and ≤ 20 age group, which showed a “U” shape curve, suggesting the necessity of screening among older women to decrease the mortality of cervical cancer.

Background Sensory impairments (SI), including vision (VI), hearing (HI), and dual sensory impairments (DSI), are prevalent with aging, but their impact on disease risk remains unclear. This study investigates the epidemiological and genetic associations between SIs and 10 chronic disease categories and multimorbidity. Methods Using the CHARLS study, participants were classified by their self-reported VI/HI/DSI status in 2011 and 2013 into groups: “new onset, remission, persistent, and no SI.” Their chronic disease incidence was tracked until 2018 in sub-cohorts respectively. Mendelian randomization (MR) analyses used genetic instruments from UK Biobank GWAS data on 88,250/504,307 individuals for vision/hearing loss, with outcome datasets from consortia including FinnGen, DIAMANTE, CKDGen, PGC, GWAS Catalog, and International Parkinson’s Disease Genomics Consortium. Results The cohort study revealed that persistent HI significantly increased the risk of heart disease ( P  < 0.001, HR 1.63, 95% CI 1.31–2.03), stroke ( P 0.004, HR 1.59, 95% CI 1.16–2.18), chronic lung disease ( P 0.002, HR 1.53, 95% CI 1.17–1.99), and emotional, nervous, or psychiatric problems ( P 0.016, HR 2.03, 95% CI 1.14–3.60). Persistent VI was significantly associated with diabetes or high blood sugar (DM/Hglu) ( P 0.012, HR 1.63, 95% CI 1.11–2.38) and chronic lung disease ( P 0.042, HR 1.53, 95% CI 1.02–2.31). MR confirmed these strong or suggestive associations, indicating that HI significantly increased the risk of cardiovascular and cerebrovascular events by 61–170%, bronchitis by 160%, and schizophrenia by 36%. In addition, VI significantly raised the risk of hyperglycemia or diabetes by 2–4% and the risk of lung function decline. Additionally, cohort studies confirmed that early DSI significantly raised the risk of multiple diseases, while MR identified genetic links between VI and hepatic failure, Parkinson’s, and Alzheimer’s disease, and between HI and hypertension, chronic kidney disease, and renal failure. Conclusions This study provides evidence from epidemiological or genetic perspectives demonstrates that early exposure to HI/VI/DSI increases the risk of developing chronic diseases. These findings underscore the need for continuous monitoring and timely intervention for SI to manage chronic disease risks in aging populations.

Calculating the temperatures of magmas from which granitoid rocks solidify is a key task of studying their petrogenesis, but few geothermometers are satisfactory. Zircon saturation thermometry has been the most widely used because it is conceptually simple and practically convenient, and because it is based on experimental calibrations with significant correlation of the calculated zircon saturation temperature (TZr) with zirconium (Zr) content in the granitic melt (i.e., TZr ∝ ZrMELT). However, application of this thermometry to natural rocks can be misleading, resulting in the calculated TZr having no geological significance. This thermometry requires Zr content and a compound bulk compositional parameter M of the melt as input variables. As the Zr and M information of the melt is not available, petrologists simply use bulk-rock Zr content (ZrBULK-ROCK) and M to calculate TZr. In the experimental calibration, TZr shows no correlation with M, thus the calculated TZr is only a function of ZrMELT. Because granitoid rocks represent cumulates or mixtures of melt with crystals before magma solidification and because significant amount Zr in the bulk-rock sample reside in zircon crystals of varying origin (liquidus, captured or inherited crystals) with unknown modal abundance, ZrBULK-ROCK cannot be equated with ZrMELT that is unknown. Hence, the calculated magma temperatures TZr using ZrBULK-ROCK have no significance in both theory and practice. As an alternative, we propose to use the empirical equation TSiO2 (°C) = -14.16 × SiO2 + 1723 for granitoid studies, not to rely on exact values for individual samples but focus on the similarities and differences between samples and sample suites for comparison. This simple and robust thermometry is based on experimentally determined phase equilibria with T ∝ 1/SiO2.