Katarzyna Ognik

To investigate different wide-field fundus autofluorescence (FAF) patterns in a large cohort of Polish patients with inherited retinal dystrophies (IRDs) of different genotypes sorted into groups of at least 5 patients. A total of 103 patients with IRDs and phenotype of retinitis pigmentosa, Usher syndrome and cone–rod dystrophy were included and divided into groups of at least 5 patients based on the outcome of genetic analysis. Ultra-wide field FAF imaging was reviewed to determine patterns of FAF. Ten groups of the same genotype and three patterns of FAF have been distinguished. In the most prevalent USH2A group (26 cases), macular hyperautofluorescence (AF) ring combined with mottled hypo-AF in the periphery was present in 19 cases, the hyper-AF ring alone (including one double ring) was present in 5 cases, while the peripapillary sparing appeared in 2 cases. In the ABCA4 group (22 cases), mottled hypo-AF pattern in the posterior pole and mid-periphery was most prevalent (13 cases), additional peripapillary sparing was present in 4 cases, central hyper-AF ring was present in 3 cases, and characteristic flecks were present in 2 cases. In the RPGR group (15 patients), the most prevalent pattern was a combination of hyper-AF ring and mottled hypo-AF in the periphery (13 cases), while in 2 cases only hypo-AF mottling was present. In PROM1 gene variants (7 patients), mottled hypo-AF in the posterior pole was again the most dominant pattern (6 patients), and there was one case of combined hyper-AF ring and hypo-AF in the periphery. All NR2E3 (5 patients), RP1 (5 patients), RHO (7 patients), CDHR1 (5 patients), PRPF31 (5 patients) and EYS (6 patients) gene pathogenic variants also manifested with hyper-AF ring in the center and patchy hypo-AF spots in the periphery. Only one of the NR2E3 patients demonstrated a double ring. The most prevalent pattern across all groups, excluding ABCA4 and PROM1 groups, is central hyper-AF ring together with patchy hypo-AF in the periphery (72 cases—70%). ABCA4 and PROM1-related RP groups revealed mostly hypo-AF mottled patterns in the posterior pole and periphery, without hyper-AF ring. FAF patterns are very heterogenous, but there are some distinctive features in different genotypes of IRDs.

Inherited retinal degeneration (IRD) comprises a genetically heterogeneous group of disorders in which the mechanisms linking genetic variation to molecular heterogeneity remain poorly understood. Here, we investigated the contribution of lipid and retinoid metabolism to the molecular etiology of IRD through an integrative analysis of proteomic and biochemical data. A cohort of 203 patients with inherited retinal degeneration was genetically characterized by whole-exome sequencing (WES), followed by targeted profiling of lipid-related proteins, including apolipoprotein A1 (ApoA1), apolipoprotein E (ApoE) and lipoprotein lipase (LPL), together with the quantitative assessment of systemic lipid parameters. Integrative analyses identified a coordinated lipid–retinoid–photoreceptor metabolic network linking systemic lipid metabolism with photoreceptor-associated processes. Although conventional lipid measures largely remained within clinical reference ranges, their distributions revealed substantial biological variability. Lipid-associated network architecture defined distinct patterns of molecular organization and exhibited pronounced sex-dependent differences, with female patients displaying denser and more interconnected networks than male patients. Furthermore, the integration of genetic and protein expression demonstrated that variant pathogenicity is associated with the coordinated remodeling of lipid-related molecular states. Our findings identify lipid and retinoid metabolism as integral components of the molecular architecture underlying disease heterogeneity in IRD and reveal a lipid–retinoid metabolic network linking genetic variation to coordinated molecular remodeling. These results provide new insight into the molecular mechanisms contributing to photoreceptor-associated degeneration.

ROSAH syndrome is a rare autosomal dominant autoinflammatory disorder caused by gain-of-function mutations in the ALPK1 gene, characterized by retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis, and headache. We present three related female patients (two sisters and their aunt) with a long-standing history of decreased visual acuity, recurring macular oedema, and progressive retinal dystrophy, as well as systemic involvement including anhidrosis, splenomegaly, headache, and arthritis. All our patients come from one family, with a total of 11 people suffering from ophthalmologic diseases with profound vision loss. Described three patients had confirmed pathogenic variant c.710C>T; p.Thr237Met in the ALPK1 gene and extensive ophthalmic assessment. This case series highlights the importance of genetic testing and multimodal imaging in unexplained familial retinal dystrophies and underlines intrafamilial phenotypic variability. Moreover, it emphasizes ROSAH syndrome as an important differential diagnosis for inherited inflammatory vitreoretinopathies.

This study examined the chemical composition and functional properties of fermented whey beverages produced from organic cow and goat whey, including both acid and sweet variants, enriched with organic sea buckthorn (Hippophae rhamnoides) or rosehip (Rosa canina) juices. In contrast to earlier research primarily addressing physicochemical and technological aspects, the present work offers a comprehensive evaluation of fatty acid composition, mineral and trace element content, antioxidant activity, and total polyphenol levels in these beverage formulations. Both the type of whey and the fruit additive significantly influenced the compositional profile and antioxidant capacity of the beverages. Samples fortified with rosehip demonstrated the highest antioxidant potential, as evidenced by enhanced DPPH radical scavenging activity, elevated FRAP values, and increased total polyphenol content. In comparison, beverages enriched with sea buckthorn juice exhibited higher concentrations of selected minerals, particularly Fe and Ni, while maintaining toxic element levels within permissible limits. The fatty acid profile was predominantly composed of saturated fatty acids, notably C16:0, along with short-chain fatty acids typical of whey. Beverages derived from goat whey contained higher levels of SFA and MUFA than those produced from cow whey, whereas the addition of rosehip contributed to increased proportions of PUFA and omega-3 fatty acids. Collectively, these findings indicate that organic fermented whey beverages enriched with rosehip or sea buckthorn juice may serve as promising functional products with enhanced antioxidant properties and favorable mineral and fatty acid profiles.

A six-week feeding trial was conducted to evaluate the effects of dietary supplementation with copper nanoparticles (CuNPs) administered at 6.5 or 13.0 mg Cu/kg diet, in combination with different types of dietary fibre, on haematological and immune parameters in rats. Ten experimental groups...

Manganese (Mn) is an essential trace element crucial for antioxidant defense, metabolism, and neuronal function, yet both deficiency and excess may induce oxidative stress and organ-specific damage. This study investigated the effects of dietary manganese exclusion and replacement of standard MnCO₃ with Mn₂O₃ nanoparticles on redox status and oxidative damage in rats. Twenty-four male Wistar rats were divided into three groups: control (K) receiving 65 mg/kg Mn as MnCO₃, manganese-deficient (B), and nanoparticle-supplemented (N) receiving 65 mg/kg Mn as Mn₂O₃ nanoparticles. After 12 weeks, tissues were analyzed for oxidative stress markers and antioxidant enzyme activities. Manganese deficiency resulted in decreased plasma SOD activity, increased lipid peroxidation, and severe oxidative–nitrosative damage in the brain and jejunum, despite hepatic compensatory mechanisms. Mn₂O₃ nanoparticle supplementation enhanced hepatic and renal antioxidant capacity, reducing oxidative damage in these organs. However, nanoparticles induced pronounced neurotoxicity, characterized by GSH depletion, elevated DNA damage (8-OHdG), protein nitration (3-NT), and caspase activation in brain tissue. These findings demonstrate that while Mn₂O₃ nanoparticles offer improved bioavailability and hepatorenal benefits, they pose significant neurotoxic risks, necessitating caution in dietary supplementation strategies.

The aim of the study was to assess the influence of cow breed and feeding season on the concentration of health-promoting, bioactive peptides in cows’ milk. Milk from Holstein-Friesian cows (HF) contained more bioactive peptides than milk from Simmental cows (SIM), regardless of season,...

Background/Objectives: Although copper nanoparticles (Cu-NPs) are increasingly explored as food and feed additives, there is still limited evidence on how the commonly consumed dietary fibre matrix modulates their effects on the gut microbiota. This study evaluated whether different dietary fibres (cellulose, pectin, inulin, psyllium) modulate Cu-NP–driven changes in caecal microbiota activity, composition, and bile acid metabolism in rats in a multifactorial design accounting for fibre type, copper dose, and copper form. Methods: Wistar male rats (n = 10 per group, 10 groups) were fed semi-purified diets for 6 weeks. Cu-NPs were provided at 6.5 or 13 mg Cu/kg diet and combined with cellulose (control fibre) or with pectin, inulin, or psyllium. Caecal digesta parameters, microbial enzyme activities, short-chain fatty acids (SCFAs), bile acids, and 16S rRNA sequencing were used to assess microbial diversity. Results: Final body weight did not differ among groups, whereas feed intake decreased most consistently with inulin and psyllium. Inulin and psyllium increased caecal digesta and tissue mass, while pectin increased caecal ammonia. Higher Cu-NPs dose reduced several microbial enzyme activities and lowered major SCFAs across most treatments; pectin most strongly preserved/enhanced glycosidase activities and was associated with increased SCFA levels vs. control, with a 32% rise in acetate, a 47% rise in propionate, and a 61% rise in butyrate. Fibre type dominated bile acid outcomes: psyllium reduced total bile acids by 11.8% vs. control, while inulin increased muricholic acids by 216% vs. control. Microbiota alpha and beta diversity separated primarily by fibre type, with distinct clustering particularly in pectin-fed groups. Across comparisons, Mucispirillum was consistently reduced in fibre-supplemented groups vs. cellulose, alongside recurrent changes in selected genera; functional profiling highlighted shared shifts in carbohydrate, fermentation, transport, and stress-response features under Cu-NPs exposure. Conclusions: The gastrointestinal and microbiota responses to Cu-NPs are strongly fibre-dependent; thus, Cu-NP safety and functionality should be evaluated together with the accompanying dietary fibre matrix, not as a standalone exposure. Implications for humans remain indirect and require confirmation in human-relevant models and clinical settings.

The research aimed to determine whether the yolk sac resorption rate, the maternal antibody levels, as well as the efficiency of the immune system of growing turkeys may be affected by early administration of antibiotics and feeding a diet containing a coccidiostat. The experiment was conducted in a 3 × 2 factorial design, which included 3 groups of birds (CON, ENR, DOX), each of which was fed with or without monensin (+, −). The CON groups did not receive antibiotic supplementation (control groups), while those in the ENR groups received enrofloxacin at a dose of 10 mg/kg body weight (BW) for the first 5 days of life, and those in the DOX groups received doxycycline at a dose of 50 mg/kg BW for the first 5 days of life. The CON−, ENR−, DOX− groups did not receive monensin in their diet, while those in the CON+, ENR+, DOX+ groups received monensin at a dose of 90 mg/kg of feed. Adding monensin to the diet significantly decreased the feed conversion ratio (FCR) (P < 0.01) and body weight in 3-day-old and 7-day-old turkey hens (P < 0.05). Early enrofloxacin administration increased anti-ORT antibody titers in 1-day-old turkeys (P < 0.05), while monensin supplementation decreased several antibody titers such as anti-MPV, anti-NDV, and anti-ORT (P < 0.05). Immunoglobulin levels (IgY and IgM) and T cell percentages (CD4 ⁺ , CD8 ⁺ ) were also significantly reduced in young turkeys fed monensin (P < 0.01 to P < 0.05). Monensin disturbs passive and specific immunity, especially in young turkeys. Early enrofloxacin or doxycycline administration to young turkeys may lead to undesirable changes in the developing immune system, including impaired humoral immunity in later life. Enrofloxacin administration to turkeys in the first five days of life and feeding them a diet containing the coccidiostat monensin strongly stimulated the immune system, which in consequence caused changes in the immune system, indicating immunosuppression in the period distant from the enrofloxacin administration. The early administration of the antibiotics enrofloxacin or doxycycline with a diet without coccidiostat or containing the coccidiostat monensin did not affect the turkeys’ growth performance.

This study aimed to investigate the effects of dietary manganese deficiency and compare the impact of manganese macroparticles (MnCO₃) and nanoparticles (Mn₂O₃NPs) on bone remodeling and metabolism. Twenty-seven male Wistar rats were divided into three groups (n = 9): control (standard MnCO₃, 65 mg Mn/kg), manganese-deficient, and Mn₂O₃NPs-supplemented (65 mg Mn/kg). After a 12-week feeding period, bone-related markers and gene expression were analyzed in the femur and blood. Mn-deficient rats showed reduced plasma levels of bone-specific alkaline phosphatase (BALP), tartrate-resistant acid phosphatase 5b (TRAP5b), interferon-β (IFN-β), RANKL glycoprotein, 1,25-dihydroxyvitamin D₃ (1,25-(OH)₂D₃), vitamin K₂, and collagen turnover markers (PINP, CTX-1, NTX). Femur levels of BALP, TRAP5b, interferon-γ (IFN-γ), osteonectin, calcitonin, PICP, PINP, and CTX-1 were also decreased. Replacing MnCO₃ with Mn₂O₃NPs increased IFN-γ but lowered IFN-β and 1,25-(OH)₂D₃ levels in plasma. This treatment also decreased the femur level of BALP and calcitonin, and the RANKL:OPG ratio, while increasing the expression level of Sp7 and Ctsk genes. To conclude, our results suggest that manganese deficiency is associated with suppressed bone turnover and altered mineral metabolism. Furthermore, replacing MnCO₃ with Mn₂O₃ nanoparticles did not yield the anticipated benefits for bone remodeling, as evidenced by the observed imbalances in osteogenic and resorptive markers, indicating a need for cautious evaluation of nanoparticle-based supplementation.