Search Results (189)

Grain filling is a vital factor influencing both rice grain yield and quality, yet its underlying mechanisms remain poorly understood. In this study, we perform a functional analysis of the grain-filling defective mutant pex1 in rice. pex1 plants produce seeds that are floury, thick-branched, and exhibit a significantly slower grain-filling rate compared to the wild type. Further analysis reveals that the pex1 mutants accumulated more starch in the pericarp but exhibited a defect in starch accumulation in the endosperm during grain filling, indicating an impaired transport of photosynthetic products from the pericarp to the endosperm. Cells within the nucellar projection in the pex1 mutant appear irregular and loose loosely arranged, consistent with defective transfer of assimilates. Expression analysis reveals a downregulation of key grain-filling genes during the filling phase in the pex1 mutant compared to the wild type, which correlates with the reduced grain-filling rate. Subcellular localization suggests that OsPEX1 is associated with the endoplasmic reticulum. Our findings demonstrate that OsPEX1 plays a crucial role in grain filling. Full article

Introduction: Pelvic exenteration (PEx) is a radical procedure used in the treatment of locally advanced (LARC) and locally recurrent rectal cancer (LRRC). With recent advancements in perioperative treatment regimens, there has been renewed interest in this procedure as it offers the opportunity for complete tumour resection in a select cohort. This has resulted in large heterogeneity in outcome reporting, making comparing and conducting a meta-analysis of published results challenging. Standardising outcome reporting will ensure meaningful data reporting and allow the cross-centre comparison of data. Aims: To conduct a systematic review of the current literature, to identify the various outcomes reported for PEx in rectal cancer, and to develop a standard outcome reporting set. Methods: A systematic review was carried out following the PRISMA guidelines. Relevant domains were identified first. Data elements (DEs) were extracted verbatim prior to standardisation and mapping to relevant domains. Results: There has been a noticeable trend of increased literature on PEx in the last decade. Forty-nine papers were identified. A total of 1549 DEs were extracted verbatim. These were standardised to 119 unique DEs mapped to ten distinct domains capturing the patient care journey. There was large variation in the frequency of reporting, with some key outcomes reported in a limited number of studies. Conclusions: There is considerable heterogeneity at present in data reporting for PEx in LARC and LRRC. Standardisation of outcomes is the first step in guiding the development of a core information set to overcome heterogeneity and guide future research development. Full article

Objectives: This study aimed to evaluate the safety and efficacy of the eight-chop technique in cataract surgery in patients with pseudoexfoliation (PEX) syndrome and assess the intraoperative parameters, changes in corneal endothelial cells, intraocular pressure (IOP), and intraoperative complications. Methods: This technique was applied in patients with and without PEX syndrome. Preoperative and postoperative assessments were conducted on best-corrected visual acuity, IOP, corneal endothelial cell density (CECD), coefficient of variation, percentage of hexagonal cells, and central corneal thickness. Intraoperative recordings included operative time, phaco time, aspiration time, cumulative dissipated energy (CDE), and fluid of volume used. Results: We analyzed 150 eyes from 150 patients (mean age, 75.5 ± 5.7 years; 59 men, 91 women). In the PEX group, operative time, phaco time, aspiration time, CDE, and volume of fluid used were 6.7 min, 17.4 s, 85.2 s, 6.91 µJ, and 33.4 mL, respectively, demonstrating favorable surgical metrics. On the other hand, in the control group, operative time, phaco time, aspiration time, CDE, and volume of fluid used were 4.5 min, 14.3 s, 64.0 s, 5.83 µJ, and 25.5 mL, respectively. In addition, CECD losses were 3.7% at week 7 and 2.7% at week 19 in the PEX group and 2.7% and 1.6%, respectively, in the control group. Significant decreases were observed at 7 and 19 weeks postoperatively in the PEX and control groups. No eye in the PEX group required a capsular tension ring due to zonular dialysis. Conclusions: The eight-chop technique in cataract surgery demonstrates excellent intraoperative parameters in patients with PEX, is effective against zonular weakness, and does not require the use of a capsular tension ring. This technique will aid in establishing personalized treatment strategies and improve cataract management and treatment. Full article

Background/Objectives: This study aimed to evaluate estimated pulse wave velocity (ePWV) in different glaucoma types. Methods: This was observational, cross-sectional, non-interventional study conducted on 127 primary open-angle glaucoma (POAG) patients, 59 primary angle-closure glaucoma (PACG) patients, 34 pseudoexfoliative glaucoma (PEX) patients, and 55 normotensive glaucoma (NTG) patients (total of 275 glaucoma patients). The control group (CG, 92 patients) consisted of patients with cataract. ePWV was calculated by the formula that was recommended by the Reference Values for Arterial Stiffness Collaboration from data on age and mean arterial blood pressure. The obtained results were processed by applying methods of descriptive (arithmetical mean, standard deviation) and analytical statistics, and comparisons of tested variables were performed using ANOVA. A p value less than 0.05 was considered statistically significant. Results: Statistically significant differences were found between patients with POAG and the CG (p value 0.042), and between those with NTG and the CG (p value 0.001). There was a statistically significant difference in ePWV values when comparing all tested patients with glaucoma and the control group (p = 0.001). Conclusions: Estimated pulse wave velocity may be a helpful tool in future risk assessment models for glaucoma. Full article

Peters anomaly (PA) is a rare congenital disorder within the anterior segment dysgenesis (ASD) spectrum, characterized by corneal opacity, iridocorneal adhesions, and potential systemic involvement. The genetic basis of PA and related syndromes are complex and incompletely understood. This study investigates novel genetic variants and their clinical impact in two unrelated individuals diagnosed with PA spectrum disorder. Whole-exome sequencing (WES), long-range PCR, and breakpoint analysis were applied to identify pathogenic variants. In the first patient, a heterozygous ~1.6 Mb deletion was detected, spanning the genes PEX2 and ZFHX4 (GRCh37 chr8:g.76760782_78342600del). The second patient carried a heterozygous FOXC1 variant (NM_001453.3:c.310A>G), classified as likely pathogenic. Both variants were confirmed by Sanger sequencing and considered de novo, as they were not present in the biological parents. Clinical evaluations revealed phenotypic variability, with the first patient displaying both ocular and systemic anomalies as in a Peters plus-like syndrome phenotype, while the second patient had isolated ocular manifestations as in a PA type 1 phenotype. These findings expand the genetic landscape of PA, underscoring the importance of comprehensive genomic analysis in subclassifying ASD disorders. Further studies are needed to elucidate the functional consequences of these variants and improve diagnostic and therapeutic strategies. Full article

Background: Syndromic inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, involving the retina and additional organs. Over 80 forms of syndromic IRD have been described. Methods: We aimed to phenotypically and genotypically characterize a cohort of 171 individuals from 140 Israeli families with syndromic IRD. Ophthalmic examination included best corrected visual acuity, fundus examination, visual field testing, retinal imaging and electrophysiological evaluation. Most participants were also evaluated by specialists in fields relevant to their extra-retinal symptoms. Genetic analyses included haplotype analysis, homozygosity mapping, Sanger sequencing and next-generation sequencing. Results: In total, 51% of the families in the cohort were consanguineous. The largest ethnic group was Muslim Arabs. The most common phenotype was Usher syndrome (USH). The most common causative gene was USH2A. In 29% of the families, genetic analysis led to a revised or modified clinical diagnosis. This included confirmation of an atypical USH diagnosis for individuals with late-onset retinitis pigmentosa (RP) and/or hearing loss (HL); diagnosis of Heimler syndrome in individuals with biallelic pathogenic variants in PEX6 and an original diagnosis of USH or nonsyndromic RP; and diagnosis of a mild form of Leber congenital amaurosis with early-onset deafness (LCAEOD) in an individual with a heterozygous pathogenic variant in TUBB4B and an original diagnosis of USH. Novel genotype–phenotype correlations included biallelic pathogenic variants in KATNIP, previously associated with Joubert syndrome (JBTS), in an individual who presented with kidney disease and IRD, but no other features of JBTS. Conclusions: Syndromic IRDs are a highly heterogeneous group of disorders. The rarity of some of these syndromes on one hand, and the co-occurrence of several syndromic and nonsyndromic conditions in some individuals, on the other hand, complicates the diagnostic process. Genetic analysis is the ultimate way to obtain an accurate clinical diagnosis in these individuals. Full article

Purpose: To investigate the role of the kynurenine pathway (KP) in ocular diseases by evaluating the activity of key enzymes—kynurenine aminotransferase (KAT) and kynurenine monooxygenase (KMO)—and the 3-hydroxykynurenine to kynurenic acid (3-HK/KYNA) ratio in relation to cataract severity, diabetes, glaucoma, and pseudoexfoliation syndrome (PEXS). Methods: Tryptophan metabolite levels were measured in patients undergoing cataract surgery and stratified by SPONCS grading and comorbid conditions. KAT and KMO activities were estimated using metabolite ratios (KYNA/KYN and 3-HK/KYN, respectively). Statistical analyses included Kruskal–Wallis tests with post hoc comparisons and Mann–Whitney U tests. Results: KAT activity declined significantly with increasing SPONCS grade (p = 0.014), suggesting a progressive loss of KYNA production and antioxidative capacity in advanced cataracts. Diabetic patients exhibited higher KMO activity (p = 0.039) and elevated 3-HK/KYNA ratios (p = 0.013), indicating a metabolic shift toward oxidative stress and neurotoxicity. Similarly, glaucoma patients had significantly increased KMO activity (p = 0.032), consistent with enhanced 3-HK-mediated retinal ganglion cell damage. In contrast, PEXS showed no significant alterations in KP markers. Conclusions: The kynurenine pathway is differentially modulated in ocular diseases. A decline in KAT activity correlates with cataract severity, while upregulation of KMO is prominent in diabetes and glaucoma, revealing disease-specific metabolic dysregulation. Targeting KMO to reduce toxic metabolite accumulation or enhancing KYNA synthesis may offer novel therapeutic avenues. These findings also support the potential of KP metabolites as biomarkers for disease monitoring and progression. Full article

Background/Objectives: Different surgical techniques are available in cases of missing or insufficient capsular bag support. Next to the anterior chamber or iris-fixated intraocular lenses (IOL), the implantation of the Carlevale IOL provides a sutureless and scleral fixated treatment method. Methods: In a retrospective single-center study, the perioperative data of 100 patients who consecutively received a scleral fixated Carlevale IOL combined with a 25 gauge (G) pars plana vitrectomy between September 2021 and June 2024 were investigated. The intraoperative and postoperative results were analyzed in terms of complication rates and refractive outcomes. Results: IOL dislocation was the most common surgical indication (50%) for sutureless Carlevale IOL implantation, followed by postoperative aphakia in 35 patients (35%). Nearly every fourth patient (24%) had a preoperative traumatic event, and 21% had pseudoexfoliation (PEX) syndrome. The average surgery time was 60.2 (±20.1) min. Intraoperative intraocular hemorrhage occurred in seven cases, and IOL haptic breakage in two patients. Temporary intraocular pressure fluctuations represented the most common postoperative complications (28%). Severe complications such as endophthalmitis or retinal detachment were not observed in our cohort. The mean refractive prediction error was determined in 67 patients and amounted to an average of −0.7 ± 2.0 diopters. The best corrected visual acuity (BCVA) at the last postoperative follow-up showed an improvement of 0.2 ± 0.5 logMAR (n = 76) compared to the preoperative BCVA (p = 0.0002). The postoperative examination was performed in 72% of the patients, and the mean follow-up period amounted to 7.2 ± 6.4 months. Conclusions: Overall, sutureless and scleral fixated implantation of the Carlevale IOL represents a valuable therapeutic option in the treatment of aphakia and lens as well as IOL dislocation in the absence of capsular bag support with minor postoperative complications and positive refractive outcomes. Full article

This study aimed to determine the microRNA (miRNA) profile extracted from exosomes in plasma samples in pseudoexfoliation (PEX) glaucoma patients compared to controls. A blood sample (10 mL) was obtained after acquiring written informed consent. Exosome was extracted from each plasma sample using an Exoquick-TC kit. RNA sequencing was performed for each exosome sample. A bioinformatics study was conducted for miRNA-related pathways and targets. A total of 14 Korean subjects (7 with PEX glaucoma; 7 age-matched controls) were involved in the final study. In exosomes of PEX glaucoma participants, 330 mature miRNAs were detected. Among these, three miRNAs were significantly upregulated, including hsa-miR-92b-5p (fold change: 24.68), hsa-miR-744-5p (fold change: 2.49), and hsa-miR-148b-3p (fold change: 3.96). Sixty-six miRNAs were significantly downregulated in PEX glaucoma patients compared to the controls (all p < 0.05). These significantly altered miRNAs (both upregulated and downregulated) were associated with the gene ontology (GO) category of neurogenesis (9.41%), which accounted for the largest proportion. The expression of exosomal microRNAs in plasma was significantly different between PEX glaucoma patients and the controls. This suggests their possible roles in the pathogenic mechanism and a good diagnostic marker for PEX glaucoma. Full article

Background: This study aims to evaluate changes in the central retina in patients with type 2 diabetes mellitus (T2DM) undergoing uncomplicated small incision cataract surgery with or without pseudoexfoliation syndrome (PEXS) using optical coherence tomography angiography (OCTA). Methods: In this prospective, longitudinal study, 67 T2DM patients underwent cataract surgery. Twelve of them had PEXS. All parameters were measured at two time points. Macular 3 × 3 mm and 6 × 6 mm OCTA images were obtained. All data were analyzed using R statistical software (version 4.4.1). Results: Parafoveal vascular density (VD) in the superior capillary plexus and the deep capillary plexus increased in the non-PEX group. There was an increase in VD in perifoveal vascular density in the deep capillary plexus in both groups. Three months after cataract surgery, changes in perifoveal vascular density in the deep capillary plexus increased in both groups and were significant. Conclusion: Perifoveal vascular density in the deep capillary plexus showed a significant increase in VD, regardless of the presence of PEXS. Parafoveal VD in the deep and superficial capillary plexuses appeared to be sensitive primarily in non-PEXS patients, with a notable increase observed in these areas three months after surgery. Full article

The aim of this study is to present interesting images of a clinical case of asymmetrical bilateral ciliary body cysts associated with pseudoexfoliative syndrome (PEX), leading to unilateral reverse pupillary block and subsequent secondary angle-closure glaucoma in a 64-year-old patient who presented with vision loss and redness, revealing angle-closure glaucoma in the left eye. Slit lamp examination showed an asymmetrical iris configuration between the eyes, with a normal appearance in the right eye and an inverted “volcano-shape” iris appearance, corresponding to reverse pupillary block, with pseudoexfoliation in the left eye. Multimodal imaging confirmed the presence of bilateral ciliary body cysts, which were unexpectedly identified in the right eye. The patient’s secondary angle-closure glaucoma in the left eye was likely due to anterior displacement of the iris from these cysts. Following an inadequate response to topical and systemic treatments, the patient underwent trabeculectomy in the left eye, successfully stabilizing the intraocular pressure (IOP) and leading to the resolution of the reverse pupillary block. This case underscores the importance of thorough ocular examination and multimodal imaging in diagnosing complex clinical presentations like secondary angle-closure glaucoma stemming from the combination of ciliary body cysts’ pressure towards the angle, the pseudoexfoliative material component, and the reverse pupillary block configuration. All of the findings provided critical diagnostic clues leading to the identification of the underlying pathology. Full article

The impact of dietary lipid sources on nutrient metabolism and reproductive development is a critical focus in aquaculture broodstock nutrition. Previous studies have demonstrated that fish oil supplementation modulates the expression of genes involved in steroid hormone synthesis, glucose, and lipid metabolism promoting ovarian development in female Scatophagus argus (spotted scat). However, the effects of fish oil on hepatic function at the protein level remain poorly characterized. In this study, female S. argus were fed diets containing 8% fish oil (FO, experimental group) or 8% soybean oil (SO, control group) for 60 days. Comparative proteomic analysis of liver tissue identified significant differential protein expression between groups. The FO group exhibited upregulation of lipid metabolism-related proteins, including COMM domain-containing protein 1 (Commd1), tetraspanin 8 (Tspan8), myoglobin (Mb), transmembrane protein 41B (Tmem41b), stromal cell-derived factor 2-like protein 1 (Sdf2l1), and peroxisomal biogenesis factor 5 (Pex5). Additionally, glucose metabolism-associated proteins, such as Sdf2l1 and non-POU domain-containing octamer-binding protein (Nono), were elevated in the FO group. Moreover, proteins linked to inflammation and antioxidant responses, including G protein-coupled receptor 108 (Gpr108), protein tyrosine phosphatase non-receptor type 2 (Ptpn2), Pex5, p120 catenin (Ctnnd1), tripartite motif-containing protein 16 (Trim16), and aquaporin 11 (Aqp11), were elevated in the FO group, while proteins involved in oxidative stress, such as reactive oxygen species modulator 1 (Romo1), cathepsin A (Ctsa), and Cullin 4A (Cul4a), were downregulated. These proteomic findings align with prior transcriptomic data, indicating that dietary fish oil enhances hepatic lipid metabolism, mitigates oxidative stress, and strengthens antioxidant capacity. Furthermore, these hepatic adaptations may synergistically support ovarian maturation in S. argus. This study provides novel proteomic-level evidence supporting the role of fish oil in modulating hepatic lipid and energy metabolism, thereby elucidating the role of fish oil in optimizing hepatic energy metabolism and redox homeostasis to influence reproductive processes, advancing our understanding of n-3 long-chain polyunsaturated fatty acids (n-3 LC-PUFA) in teleost liver physiology. Full article

Exposure to low temperatures during honeybee development has been shown to impede brain development and affect cognitive function in adult bees. On the other hand, neuronal damage due to oxidative stress has been reported in many cases. Hence, biochemical parameters related to oxidative stress in honeybee pupae brain were determined. The levels of GSH in the pupal brain decreased after 24 h and 48 h of exposure to low temperatures; there were also reduced activities of SOD and CAT enzymes following 48 h of low-temperature treatment compared to the control group. Furthermore, analysis of transcriptome data post-24 h and -48 h low-temperature stress revealed the suppression of the glutathione metabolism and peroxisome pathways in pupal brains. Additionally, expression pattern clustering analysis and KEGG enrichment showed that 10 differentially expressed genes with down-regulated expression trends post-low-temperature treatment were significantly enriched in the peroxisome pathway, including PEX10, highlighting their connection to peroxisome function. RT-qPCR validation was conducted on 11 core enriched genes in pathways identified via GSEA, and all these genes exhibited a downregulated expression pattern, confirming the inhibition of glutathione metabolism and peroxisome function under low-temperature stress. The present study showed that exposing honeybee pupae to low temperatures suppressed both the glutathione metabolism and peroxisome pathways, resulting in increased oxidative stress. This research enhances our understanding of how the pupal brain reacts to cold stress and illuminates the neural damage associated with low temperatures during honeybee capped brood development. Full article

Background/Objectives: To compare the efficacy and safety of Hydrus^® Microstent and iStent inject^® W implants, in combination with phacoemulsification, for lowering intraocular pressure (IOP) in patients with glaucoma in a real-world clinical setting. Methods: This retrospective, single-center study analyzed medical records of glaucoma patients who underwent either Hydrus^® Microstent or iStent inject^® W implantation combined with cataract surgery at the University Hospital Muenster, Germany. Key outcome measures included absolute and relative IOP reduction, reduction in topical antiglaucoma medication use, overall success rate, and complications. A total of 32 eyes were analyzed, 16 in each treatment group, with a 12-month follow-up. Results: Both groups demonstrated significant postoperative IOP reduction (Hydrus: p < 0.001; iStent inject^® W: p = 0.032). The Hydrus group achieved significantly greater relative IOP reduction compared to the iStent inject^® W group (p = 0.043). The Hydrus group also showed a significant reduction in daily antiglaucoma medication use (p = 0.002), whereas the iStent inject^® W group did not achieve statistical significance in this regard (p = 0.054). The overall success rate was higher in the Hydrus group (38%) than in the iStent inject^® W group (13%), though the difference was not statistically significant (p = 0.102). No device-related complications were observed in either group. Conclusions: The Hydrus^® Microstent demonstrated superior IOP reduction and a more significant reduction in the need for antiglaucoma medications compared to the iStent inject^® W in a real-world setting. These findings support the use of the Hydrus implant as an effective and safe micro-invasive glaucoma surgery (MIGS) option for patients with mild to moderate POAG. Further studies with larger patient populations and long-term follow-up are warranted to confirm the efficacy in patients with PEX and advanced glaucoma. Full article

Case Report: We report a case of a 37-year-old female with kidney transplant, who was admitted at our hospital due to worsening renal function, nephrotic proteinuria, and anemia developed 21 days after the second dose of BNT162b2 COVID-19 vaccine (Pfizer-BioNTech). Laboratory tests revealed hemolytic anemia, thrombocytopenia, and acute kidney injury. Given the clinical picture of Thrombotic Micro-angiopathy (TMA) and severe renal impairment, plasma exchange (PEX) and dialysis were immediately started. Laboratory workup showed low C3 and C4 levels, normal activity of ADAMTS13, and the absence of anti-factor H antibodies. Molecular biology investigations revealed a heterozygous variant in exon 22 (SCR20) of the CFH gene (c.3628C>T; p.Arg1210Cys) described as an atypical Hemolytic Uremic Syndrome (aHUS) causative mutation. Our patient completed two sessions of PEX followed by eculizumab treatment with hematological improvement but no recovery of renal function. This is the first reported case of aHUS triggered by SARS-CoV-2 vaccination in a kidney transplant patient without recovery of renal function. Conclusion: Although rare, clinicians should be aware of possible nephrological complications that may appear after vaccination. Full article