Search Results (177)

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

Maize is a critical crop for food, feed, and bioenergy worldwide. This study characterized the genetic diversity and population structure of 212 important inbred lines collected from the Southeast China breeding program using the Maize6H-60K single nucleotide polymorphism (SNP) array. To investigate the genetic architecture of plant height (PH) and ear height (EH), genome-wide association analysis (GWAS) was performed on this population in 2021 and 2022. Cluster analysis and population genetic structure analysis grouped the 212 maize inbred lines into 10 distinct categories. GWAS identified significant associations for PH, EH, and the EH/PH ratio. A total of 40 significant SNP (p < 8.55359 × 10⁻⁷) were detected, including nine associated with PH, with phenotypic variation explained (PVE) ranging from 3.42% to 25.92%. Additionally, 16 SNP were linked to EH, with PVE ranging from 2.49% to 38.49%, and 15 SNP were associated with the EH/PH ratio, showing PVE between 3.43% and 16.83%. Five stable SNP, identified across two or more environments, were further analyzed. Three of these SNP loci are reported for the first time in this study: two loci associated with the PH, AX-108020973, and AX-108022922, as well as one new locus, AX-108096437, which was significantly associated with the EH/PH ratio. Additionally, two other significant SNP (AX-247241325 and AX-108097244) were located within a 2 Mb range of previously identified QTL and/or related SNP. Within the 200 kb confidence intervals of these five stable SNP loci, 76 functionally annotated genes were identified. Further functional analysis indicated that 14 of these genes may play a role in regulating plant morphology, which is primarily involved in hormone synthesis, microtubule development, root growth, and cell division regulation. For instance, the homologous genes GRMZM2G375249 and GRMZM2G076029 in maize correspond to OsPEX1 in rice, a protein similar to extension proteins that are implicated in lignin biosynthesis, plant growth promotion, and the negative regulation of root growth through gibberellin-mediated pathways. The candidate gene corresponding to AX-108097244 is GRMZM2G464754; previous studies have reported its involvement in regulating EH in maize. These findings enhance the understanding of QTL associated with maize plant-type traits and provide a foundation for cloning PH, EH-related genes. Therefore, the results also support the development of functional markers for target genes and the breeding of improved maize varieties. Full article

Meyerozyma guilliermondii is an interesting oleaginous yeast with considerable potential for biotechnological applications. This yeast demonstrates the ability to utilize palm acid oil (PAO), a low-cost and renewable feedstock, as a carbon source, making it a sustainable candidate for single-cell oil production. Under optimal conditions with 4% of PAO, M. guilliermondii can accumulate lipids to approximately 45% of its cell dry weight (CDW). Notably, the expression level of PEX14, a gene associated with peroxisomal biogenesis, increases with higher PAO concentrations, coinciding with the formation of multiple small lipid bodies. These findings highlight the metabolic adaptability of M. guilliermondii and its potential for industrial lipid production using waste-derived feedstocks. Full article

Peroxisomes are ubiquitous, dynamic, oxidative organelles with key functions in cellular lipid metabolism and redox homeostasis. They have been linked to healthy ageing, neurodegeneration, cancer, the combat of pathogens and viruses, and infection and immune responses. Their biogenesis relies on several peroxins (encoded by PEX genes), which mediate matrix protein import, membrane assembly, and peroxisome multiplication. Defects in peroxins or peroxisomal enzymes can result in severe disorders, including developmental and neurological abnormalities. The drive to understand the role of peroxisomes in human health and disease, as well as their functions in tissues and organs or during development, has led to the establishment of vertebrate models. The zebrafish (Danio rerio) has become an attractive vertebrate model organism to investigate peroxisomal functions. Here, we provide an overview of the visualisation of peroxisomes in zebrafish, as well as the peroxisomal metabolic functions and peroxisomal protein inventory in comparison to human peroxisomes. We then present zebrafish models which have been established to investigate peroxisomal disorders. These include model zebrafish for peroxisome biogenesis disorders/Zellweger Spectrum disorders, and single enzyme deficiencies, particularly adrenoleukodystrophy and fatty acid beta-oxidation abnormalities. Finally, we highlight zebrafish models for deficiencies of dually targeted peroxisomal/mitochondrial proteins. Advantages for the investigation of peroxisomes during development and approaches to the application of zebrafish models for drug screening are discussed. Full article

The purpose of this study is to analyze the mission statements of 49 companies listed on the Palestine Exchange (PEX), focusing on their structure and alignment with environmental, social, and governance (ESG) principles. The primary objective of this research was to evaluate the extent to which Palestinian companies embed sustainability issues into their mission statements. This was done with a qualitative research design and a descriptive content analysis method, letting mission statements from different fields be looked at in excellent detail. This analysis offers valuable insights into how Palestinian companies articulate their strategic goals and communicate their commitment to ESG factors. The findings reveal that Palestinian companies demonstrate a clear understanding of sustainability and its relevance to their operations. A lot of companies are also working hard to include sustainability principles in their mission statements. This shows that people are becoming more aware of how important ESG factors are for shaping business strategy and creating long-term value. Full article