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This study describes three unilateral cases of hemorrhagic occlusive retinal vasculitis (HORV) after cataract surgery and a review of the literature until February 2022, including 21 articles reporting HORV cases. Altogether, 61 eyes (41 patients) were included. Twenty patients had bilateral and 21 patients had unilateral HORV. Prophylactic vancomycin was given to all patients. Additional vancomycin use was associated with the worst outcome. The mean time to HORV was 9 days post-cataract surgery. In bilateral cases, the median time between surgeries was 7 days. Visual acuity was < 20/400 in 48%, with no light perception in 20%. Neovascular glaucoma developed in 43%. Central macular thickening or hyperreflectivity of the inner retinal layers on optical coherence tomography was associated with worse outcomes. Corticosteroid treatment, early panretinal laser photocoagulation, or anti-vascular endothelial growth factor therapy, and prophylaxis alternative to vancomycin is recommended. [ Ophthalmic Surg Lasers Imaging Retina 2022;53:702–712.]

Leberjeva hereditarna optična nevropatija (LHON) je redka dedna mitohondrijska bolezen, ki povzroča slepoto najpogosteje pri mladih odraslih. Navadno se izrazi kot subakutna, neboleča izguba vida na eno oko, ki ji sledi poslabšanje vida drugega očesa v nekaj tednih do mesecih. Bolezen večinoma pušča trajne posledice, le pri nekaterih bolnikih lahko v redkih primerih pride do delnega spontanega izboljšanja vida. Razmerje med moškimi in ženskimi bolniki se ocenjuje na 3 : 1. V zadnjih letih je z razvojem zdravilne učinkovine idebenone možno podporno farmakološko zdravljenje, ki lahko prispeva k delnemu izboljšanju vidne funkcije. Bolezen zaradi svoje redkosti velikokrat ostane ne- ali napačno diagnosticirana. V članku predstavljamo štiri klinične primere bolnikov, pri katerih se je po obsežnem in dolgotrajnem diagnosticiranju izkazalo, da imajo LHON. Od leta 1996 se v Sloveniji vodi baza bolnikov z redkimi dednimi očesnimi boleznimi. Na tej podlagi je ocenjena prevalenca LHON 1/72.000. Ob sumu na bolezen so ključni družinska anamneza slabovidnosti po materini strani, genetsko testiranje in napotitev na obravnavo ter zdravljenje v terciarno ustanovo.

Background Immune checkpoint inhibitors (ICI) are becoming increasingly common in treating several cancer types. Durvalumab is a human IgG1 monoclonal antibody that blocks PD-L1 binding to PD-1 and CD80 and has recently been approved for the treatment of extensive-stage small-cell lung cancer (ES-SCLC) and locally advanced unresectable (NSCLC). The present review aimed to analyse immune-mediated uveitis, secondary to durvalumab treatment, through a review of the literature and a presentation of two clinical cases. Patients and methods A literature review using PubMed search was conducted to identify cases of uveitis secondary to durvalumab and cases of uveitis with optic disc oedema secondary to ICI use that were reported prior to November 14, 2021. Additionally, we report two cases of uveitis consequent on durvalumab treatment. Results Five cases of uveitis secondary to durvalumab use were identified in the literature. Anterior, posterior uveitis and vasculitis were reported. Additionally, we present a case of bilateral intermediate uveitis with bilateral optic disc oedema and a case of bilateral posterior uveitis. Our further search revealed 12 cases of uveitis with optic disc oedema secondary to ICI use, with the majority of cases reported secondary to PD-1 inhibitors. Conclusions Rarely reported, uveitis secondary to durvalumab can present various clinical pictures and requires a thorough diagnostic workup. Once the diagnosis is established, treatment, commonly with a local or systemic corticosteroid, should be adapted to the severity of the inflammation.

Background Vaginoplasty is a crucial part of genital gender-affirming surgery with the number of trans women undergoing this intervention steadily, however, up to date, there is still no standardized vaginoplasty technique. Aim This retrospective single-center study compares single-stage vs two-stage penile skin inversion vaginoplasty techniques and their long-term outcomes. Methods Medical records of 63 consecutive patients who underwent single-stage vaginoplasty, as described by Dr Preecha Tiewtranon, and 62 consecutive patients who underwent 2-stage vaginoplasty were reviewed. Results The mean postoperative hospital stay was 7 days for patients who underwent single-stage vaginoplasty vs 16 days for patients who underwent 2-stage vaginoplasty. Neovaginal depth proved constant in patients who underwent single-stage vaginoplasty, whereas a loss of more than 30% was observed in patients who underwent 2-stage vaginoplasty during the first postoperative year. Early complications were more common than late-onset complications in both groups. The most common complication in the single-stage group was wound dehiscence (4.8%). There were significantly more complications in 2-stage collective, among which wound dehiscence (33.9%), unsatisfactory cosmetic outcome (25.8%), and urethral stenosis (14.5%) were the most common. In the single-stage cohort, 4 (6.4%) patients needed one revision surgery, whereas 35 (56.5%) patients in the 2-stage cohort necessitated one or more reoperations with up to 10 quaternary revisions. All patients reported to have sensitivity to neoclitoris in the single-stage group, whereas 3 (4.8%) patients in the 2-stage group were deprived of it because of neoclitoral necrosis. Clinical Implications Optimizing a vaginoplasty surgical technique and its postoperative protocol. Strengths & Limitations The present retrospective study with a mean follow-up of more than 3.5 years offers the first ever comparison of 2 different PSI vaginoplasty surgical techniques performed in the same center. Conclusion Significantly lower complication and revision rates, shorter recovery time, and superior esthetic and functional outcomes were observed in the single-stage than in the two-stage penile skin inversion vaginoplasty surgical technique. Fakin RM, Giovanoli P. A Single-Center Study Comparison of Two Different Male-to-Female Penile Skin Inversion Vaginoplasty Techniques and Their 3.5-Year Outcomes. J Sex Med 2021;18:391–399.

Poseben problem odpadkov v tekstilni industriji predstavljajo odpadne tehnološke vode, predvsem tiste, ki nastajajo pri plemenitenju tekstilij. Te odpadne vode so močno obremenjene, vsebujejo različne kemikalije in tekstilna pomožna sredstva, imajo ekstremne pH-vrednosti in visoke KPK in BPK vrednosti, različne tipe organskih barvil, kar povzroča obarvanost, vsebujejo fosfate, sulfate in ostale soli, tenzide, maščobe in olja ter različne tipe težkih kovin. Tekstilne odpadne vode so zelo heterogene po sestavi, zato je čiščenje takšnih voda kompleksna naloga, za katero ni idealne in v naprej izdelane metode. Glede na proizvodni proces je potrebno izbrati fleksibilno in ekonomsko upravičeno tehnologijo čiščenja. Pri izbiri tehnologije čiščenja odpadnih voda moramo upoštevati njihovo količino in kakovost, ki jo ovrednotimo s specifičnimi in sumarnimi ekološkimi parametri.

The pathogenic variant p.G90D in

BackgroundWe present the disease course and long-term follow-up of two patients who were phenotypically diagnosed with atypical Leber Hereditary Optic Neuropathy (LHON) 14 and 12 years ago, respectively, whereby whole exome sequencing revealed recently described recessive DNAJC30:c.152G>A 152 A>G (p.Tyr51Cys) homozygous pathogenic variant with significant spontaneous visual acuity recovery in one.Case presentationTwo presented unrelated males with atypical LHON with sequential visual acuity (VA) loss were followed for many years. Both patients had negative family history. At the presentation at ages 17 (Case 1) and 18 years (Case 2), both had reduced visual acuity (Snellen): (Case 1) right eye (RE):CF 3m, left eye (LE):0.6, (Case 2) RE:0.2, LE:0.15; and color vision (Ishihara): (Case 1) 1/15 and 13/15; (Case 2) 2/15 and 3/15. Both had hyperemic optic disks (PNO) and central scotoma in their visual fields. Electrophysiology in the acute phase showed reduced and delayed visually evoked potentials (VEP) P100 in both patients, with reduced N95 amplitude in Case 2, and initially normal N95 amplitude in Case 1. Fluorescein angiography showed no early leakage with some late pooling at optic disks. Extensive clinical workout, including brain magnetic resonance imaging (MRI), aquaporin 4 (Aq4), and anti-myelin oligodendrocyte protein (anti-MOG) antibodies, was negative. Intravenous corticosteroids did not improve vision. Both experienced further deterioration several months after the onset accompanied by thinning of the peripapillary retinal nerve fiber layer (RNFL). Genetic testing for typical LHON pathogenic variants and whole mitochondrial DNA (mtDNA) sequencing was negative. 1 year after the onset, modest VA improvement began in Case 2 and continued over the next 3 years. VA improved bilaterally to 0.7, color vision 15/15, and islands of vision appeared within the visual field scotoma. VEP P100 peak time shortened, and amplitude increased, despite further RNFL thinning on optical coherent tomography (OCT). The patient's visual function remained stable during the entire 12-year follow-up period. Case 1 experienced modest VA improvement to 0.1 with some improvement in the visual field seven years after the disease onset, remaining stable during the entire 14-year follow-up period. VEP P100 wave remained undetectable.ConclusionsPresented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. This mutation should be screened in every atypical LHON patient.

The aim of the present study is to determine how electroretinographic (ERG) responses reflect age-related disease progression in the Stargardt disease (STGD1). The prospective comparative cohort study included 8 patients harboring two null ABCA4 variants (Group 1) and 34 patients with other ABCA4 genotypes (Group 2). Age at exam, age at onset, visual acuity (VA) and ERG responses were evaluated. The correlation between ERG responses and age in each patient group was determined using linear regression. A Mann-Whitney U Test was used to compare the median values between the groups. Age of onset was significantly earlier in Group 1 than in Group 2 (8 vs. 18), while disease duration was similar (13 vs. 12 years, i.e., advanced stage). Group 1 had significantly worse VA and lower ERG responses. ERG responses that significantly correlated with age in Group 1 were DA 0.01 and 3.0 ERG, which represented a retinal rod system response. The only ERG response that significantly correlated with age in Group 2 was the S-cone ERG. The observed difference was likely due to early cone loss occurring in double-null patients and slower photoreceptor loss in patients with other genotypes. The results suggest that specific ERG responses may be used to detect double-null patients at an early stage and monitor STGD1 disease progression in patients with specific genotypes.

(1) Background: The purpose of this study was to evaluate the thickness of retinal layers in Leber hereditary optic neuropathy (LHON) in the atrophic stage compared with presumably inherited bilateral optic neuropathy of unknown cause with the aim of seeing if any LHON-specific patterns exist. (2) Methods: 14 patients (24 eyes) with genetically confirmed LHON (LHON group) were compared with 13 patients (23 eyes) with negative genetic testing results (mtDNA + WES) and without identified etiology of bilateral optic atrophy (nonLHON group). Segmentation analysis of retinal layers in the macula and peripapillary RNFL (pRNFL) measurements was performed using Heidelberg Engineering Spectralis SD-OCT. (3) Results: In the LHON group, the thickness of ganglion cell complex (GCC) (retinal nerve fiber layer (RNFL)—ganglion cell layer (GCL)—inner plexiform layer (IPL)) in the central ETDRS (Early Treatment Diabetic Retinopathy Study) circle was significantly higher than in the nonLHON group (p < 0.001). In all other ETDRS fields, GCC was thinner in the LHON group. The peripapillary RNFL (pRNFL) was significantly thinner in the LHON group in the temporal superior region (p = 0.001). Longitudinal analysis of our cohort during the follow-up time showed a tendency of thickening of the RNFL, GCL, and IPL in the LHON group in the central circle, as well as a small recovery of the pRNFL in the temporal region, which corresponds to the observed central macular thickening. (4) Conclusions: In LHON, the retinal ganglion cell complex thickness (RNFL-GCL-IPL) appears to be relatively preserved in the central ETDRS circle compared to nonLHON optic neuropathies in the chronic phase. Our findings may represent novel biomarkers as well as a structural basis for possible recovery in some patients with LHON.

This work concerns freeze-dry processing of CNF aerogels, including aluminum hydroxide trihidrate (Alolt) particles and Sodium silicate, as active and passive flame retardants, respectively. Alkalinity of Sodium silicate promotes stability, dissociation and co-precipitation of Al(OH)3 component onto CNFs. The (auto)fluorescence-enabled confocal microscopy enabled visualization of anisotropic microstructure with open and closed-cell segments, depicting the Alolt as single and aggregated particles. Low thermal conduction (~ 0.045 W/mK) was estimated, irrespective of composition, while Alolt was found to reduce (by 30%) the aerogel moisture content. Sodium silicate promotes char formation as passive action, reducing the evolution of gaseous species, while burning test shows complete flame retardation through active endothermic reaction assigned to Alolt. Additive combinations did not amplify, nor diminish, the flame retardant effect of particular component, yet affected positively the elastic modulus. Considering simple “green” processing, low additive load, and high insulation and flame retardant efficiency, these aerogels hold promise as thermal insulation materials.

The size and distribution of the photoluminescent pigment particles within the selected binder may affect the quality and appearance of the final print significantly. Yet, the techniques for precise evaluation of size distri¬bution of the pigment particles within a 3D fabric space are rather limited, based on their intrinsic fluorescent properties. The presented work demonstrates a simple screen-printing process for the sustainable application of three different types of commercial fluorescent pigments on polyester (PES) fabric, using polydimethylsiloxane (PDMS) as a binder. A comprehensive toolbox was used to compare and study different commercial photo¬luminescent pigments and their corresponding prints, by means of size distribution and concentration effect of emission intensity, including Confocal Fluorescence Microscopy (CFM) and Scanning Electron Microscopy (SEM) in combination with complementary spectroscopic techniques, i.e. Energy Dispersive X-ray Spectroscopy (EDX) and Ultraviolet-visible (UV-vis) spectroscopy. The focus is on CFM utilised as a non-destructive tool, used for the evaluation of photoluminescent pigments´ spatial distribution within printing pastes, as well as on/within the PES fabrics.

Alkaline anion exchange membrane fuel cells (AAEMFC) are attracting ever-increasing attention, as they are promising electrochemical devices for energy production, presenting a viable opponent to the more researched proton exchange membrane fuel cells (PEMFCs). Consequently, great progress has been made in the area of designing and developing synthetic or naturally-derived anion exchange membrane (AEM), the properties of which have been discussed in this review, i.e. ionic conductivity, ion exchange capacity, fuel crossover, durability, stability and cell performance. Major groups of natural polymers (e.g. chitosan (CS)) and nanocellulose, together with modification/crosslinking routes, have been mentioned as more ecologically and economically viable raw materials for AEM processing compared to synthetic ones. Performances of fuel cells are also discussed, with different fuels used as anode feeds. Although the AEMFC technology is promising, the longevity challenges remain, originating from the still-limited long-term stability of hydroxide-conducting ionomers, particularly when operating at higher cell temperatures.

Purpose To describe the optical coherence tomography features of vitamin A deficiency. Methods Case series includes three male patients aged 50-66 years with vitamin A deficiency and visual symptoms ranging from 2-8 months. Examination included optical coherence tomography (OCT), fundus autofluorescence imaging (FAF), full-field electroretinography (ERG) and laboratory work-up. Results Patient 1 had inoperable pancreatic neuroendocrine tumour and presented with worsening nyctalopia. The ERG showed absent rod function two months after the onset of symptoms, followed by a decrease of cone function eight months after the onset. OCT showed poorly distinguishable outer segments of the photoreceptors (OS) with the disappearance of the interdigitation zone (IZ). At that time vitamin A deficiency along with several other deficiencies was confirmed. After the initiation of parenteral nutrition, a substantial improvement of the patient's overall well-being was noted and the OCT showed normalization of the retinal structure. Two other patients were diagnosed with vitamin A deficiency based on similar OCT features. Conclusion Disruption of the outer segments of the photoreceptors and the disappearance of the interdigitation zone on OCT may be helpful in recognition of vitamin A deficiency. Early detection and malnutrition evaluation are especially important in patients with a history of gastrointestinal disorders who may have several other underlying deficiencies. Treatment with either enteral or parenteral nutrition not only leads to resolution of visual symptoms but vastly improves their general condition and quality of life.

To report the safety, anatomical and functional outcomes of autologous neurosensory retinal transplant in patients with a refractory large unclosed macular hole. This is a prospective case series of four patients with large chronic macular hole that underwent vitrectomy and free-flap neurosensory retinal transplantation surgery with silicone oil tamponade. The hole was closed with an autologous retinal transplant of an approximate diameter of 1.5–1.8 mm, harvested outside the vascular arcades. Anatomical and functional outcomes were assessed using best-corrected visual acuity (BCVA-Snellen), optical coherence tomography (OCT), OCT angiography, microperimetry (MP), and multifocal electroretinography (mfERG). There were 2 male and 2 female patients with median age of 73 (60–81) years. The median follow-up period was 17 (13–23) months. The median preoperative size of the macular hole was 1872.5 (868–2591) μm at the widest basal diameter and 828 (556–1099) μm at the minimum diameter. Surgery resulted in the anatomical closure of the macular hole in all cases. The OCT showed structural integration of the transplant and reappearance of the inner segment ellipsoid to different extents. The BCVA improved from preoperative 0.1 (6/60; + 1.0 logMAR), 0.1 (6/60; + 1.0 logMAR), 0.05 (6/120; + 1.3 logMAR), and 0.005 (6/1200; + 2.3 logMAR) to 0.2 (6/30; + 0.7 logMAR) postoperatively in cases 1, 2, and 4, and to 0.1 (6/60; + 1.0 logMAR) in case 3. MP showed retinal function in the region corresponding to the area of the transplant (circle of 1.8 mm in diameter) in all patients after the surgery (median sensitivity in that region was 4.0 dB, range 1.8–12.4 dB). Improvement was noted in the patient that had MP performed before the surgery (mean sensitivity improved from 0 to 1.8 dB). Detectable function was mostly located in the peripheral regions of the transplant. Multifocal ERG showed abnormal function of the central ring and normal function of the second ring in 3 of 4 cases. The OCT angiography showed normal perfusion, without signs of neovascularization. There were no intra- or postoperative complications. Autologous retinal transplantation surgery is a successful technique for closing of large refractory macular holes. The procedure is safe and provides good anatomical results. Visual acuity, microperimetry, and mfERG suggest some gradual functional integration of outer regions of the transplants, but no central functional restitution has been detected as yet.

The proposed paper describes the influence of woven fabric constructional parameters (type of weave, relative fabric density) and colouration (obtained by eco-friendly dyeing) on the solar transmittance of cotton woven fabrics in the range of 210–1200 nm. The cotton woven fabrics in their raw state were prepared according to Kienbaum’s setting theory, at three levels of relative fabric density and three levels of the weave factor, and then exposed to the dyeing process with natural dyestuffs (beetroot, walnut leaves). After ultraviolet/visible/near-infrared (UV/VIS/IRA) solar transmittance and reflection in the range of 210–1200 nm were recorded, the influence of the fabric construction and colouration were analysed. The guidelines for fabric constructor were proposed. The results show that the walnut-coloured satin samples at the third level of relative fabric density provide the best solar protection in the whole solar spectrum. All the tested eco-friendly dyed fabrics offer good solar protection, while only raw satin fabric at the third level of relative fabric density can be classified as solar protective material with even better protection in IRA region than some coloured samples.

The aim of the study was to determine the rate of retinal degeneration in patients with c.2610C>A (p.Cys870*) in USH2A exon 13, amenable to exon skipping therapy. There were nine patients from seven families, three of whom were male (two were homozygous). Seven patients had follow-up data (median of 11 years). Analysis included best corrected visual acuity (BCVA, decimal Snellen), visual field (Goldmann perimetry target II/4), fundus autofluorescence (FAF), optical coherence tomography (OCT), and microperimetry (MP). The median age at the onset of nyctalopia was 20 years (range, 8–35 years of age). At the first exam, at a median age of 42 years, the median BCVA was 0.5 (0.2–1.0), and the median visual field diameter was 23° (5°–114°). Imaging showed a hyperautofluorescent ring delineating preserved foveal photoreceptors in 78% (7/9) of patients, while 22% (2/9) had a hyperautofluorescent patch or atrophy, reflecting advanced disease. Survival analysis predicted that 50% of patients reach legal blindness based on a visual field diameter < 20° at the age of 52 (95% CI, 45–59) and legal blindness based on a BCVA ≤ 0. 1 (20/200) at the age of 55 (95% CI, 46–66). Visual field constriction occurred at the median rate of radial 1.5 deg/year, and hyperautofluorescent ring constriction occurred at the median rate of 34 μm/year. A non-null second allele was found in two patients: p.Thr4315Pro and p.Arg303His; the patient with p.Arg303His had a milder disease. The rates of progression will be useful in the design and execution of clinical trials.

The presented study assesses the efficiency of selected adsorbents, zeolite 4A in two particle sizes and pelletized activated carbon (AC), for the potential removal of color, chemical oxygen demand (COD), total organic carbon (TOC) and metals from wastewaters after natural wool dyeing. Firstly, the natural coloring compounds were extracted from dried common walnut (Juglans regia) leaves and used further for exhaustion dyeing of wool fibers, together with three different metallic salts in two concentrations (meta-mordanting). Effluents with higher mordant concentration were additionally treated according to a shake-flask adsorption experiment. The obtained results revealed efficient removal of exceeded metallic ions by zeolite (up to 94.7%), on account of their superior ion exchange capability as compared to AC. The zeolites also reduced turbidity and electrical conductivity significantly. On the other hand, AC was more efficient for the reduction in organic pollution, COD up to 96% and TOC up to 95%, due to its higher specific surface area and total pore volume, and, thus, higher potential for adsorption of different compounds in comparison to 4A. All three proposed adsorbents lowered wastewaters’ coloration remarkably, up to 78% (AC) and up to 71% (4A), depending on the type of effluent/mordant and inspected wavelength; although, the spectral absorbance coefficient (SAC) values remained highly above the limit values for discharge of wastewaters into watercourses.

The pathogenic variant p.G90D in RHO is believed to be responsible for a spectrum of phenotypes, including congenital stationary blindness (for the purpose of this study termed night blindness without degeneration; NBWD), Sector RP, Pericentral RP, and Classic RP. We present a correlation between the serum concentration of vitamin A and disease severity in patients with this variant. This prospective study involved 30 patients from 7 families (17 male; median age 46 years, range 8–73). Full ophthalmological examination including visual acuity, Goldmann perimetry, slit-lamp exam, optical coherence tomography, fundus autofluorescence, and electrophysiology was performed to determine the presenting phenotype. The serum concentration of vitamin A was determined from a fasting blood sample taken on the day of the exam, where it was found that 23.3% (7/30) of patients had NBWD, 13.3% (4/30) had Sector RP, 3.3% (1/30) had Pericentral RP, and 60% (18/30) had Classic RP. Multiple logistic regression revealed a significantly higher probability of having a milder phenotype (NBWD or Sector RP) in association with younger age (p < 0.05) and a higher concentration of vitamin A (p < 0.05). We hypothesize that vitamin A in its 11-cis-retinal form plays a role in stabilizing the constitutively active p.G90D rhodopsin and its supplementation could be a potential treatment strategy for p.G90D RHO patients.

This paper analyses approaches to involving young people in the processes of valuation, interpretation and utilization of local heritage to meet contemporary development challenges. The starting point is the finding that European development strategies highlight the various potentials of cultural heritage, but young people from western Slovenia hardly see any of these potentials. Moreover, the presented ethnographic research results show that young people are not very interested in heritage practices undertaken in their cities or villages. This paper’s results demonstrate how heritage may be introduced to young generations, how youth understand local heritage and its values, and what they think about voluntary activities in cultural fields., U radu se analiziraju pristupi uključivanja mladih u procese vrednovanja, interpretacije i korištenja lokalne baštine ususret suvremenim izazovima razvoja. Polazi se od toga da europske razvojne strategije naglašavaju različite potencijale kulturne baštine, no mladi iz zapadne Slovenije teško uviđaju te potencijale. Nadalje, rezultati etnografskog istraživanja pokazuju da mladi nisu značajnije zainteresirani za prakse vezane uz baštinu koje se provode u njihovim gradovima i selima. Rezultati ovog rada pokazuju na koji se način baština može predstaviti mlađim generacijama, kako mladi razumiju lokalnu baštinu i njezine vrijednosti te što misle o volonterskim aktivnostima u području kulture.

The main objective of the presented research was to study the possibility of using natural colourants obtained through the aqueous extraction of fresh leaves from the Junglans regia (J. regia), or common walnut tree, for the dyeing of wool yarn. A unique principle was explored by combining the phases of extraction and mordanting into one with the aim of shortening the dyeing procedure, while at the same time extracting more colouring components. Spectrophotometric studies revealed the signifi cant impact of both mordant addition and dye-bath pH on the absorbance curve and thus on the colour and K/S values of the dyed samples. A meta-ordanting technique using ferrous sulphate produced a greater depth of shade at a wavelength of 400 nm, with respect to the concentration of mordant and the liquid ratio of the extraction. Finally, wool yarn dyed with pure leaf extracts exhibited a potent inhibiting activity against Candida albicans (C. albicans) with a moderate reduction rate of 59%, and an inhibited response against Staphylococcus aureus (S. aureus) with a low reduction rate of 38.6%.

This paper focuses on the Kras/Carso Food Tour to present the challenges of developing a luxury tourism product. The tour's design followed the current strategy of the Slovenian Tourist Board, which defines specific criteria for a luxury experience. Contextualized by the experiential trends in tourism, the paper juxtaposes the bottom-up and top-down perspectives on luxury experiences. The authors argue that mediation by experts familiar with academic discourses and local culture is beneficial for the development of a successful tourism product. The study contributes to the debates on luxury tourism, which have neglected bottom-up perceptions in tourist discourse and overlooked the dilemmas people face when "luxurifying" their traditions and heritage practices.

Achromatopsia has been proposed to be a morphologically predominately stable retinopathy with rare reports of progression of structural changes in the macula. A five-grade system of optical coherence tomography (OCT) features has been used for the classification of structural macular changes. However, their association with age remains questionable. We characterized the Slovenian cohort of 12 patients with pathogenic variants in

Purpose: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-like probands. Methods: Sequencing of the complete 128-kb ABCA4 gene was performed using single-molecule molecular inversion probes (smMIPs), based on a semiautomated and cost-effective method. Structural variants (SVs) were identified using relative read coverage analyses and putative splice defects were studied using in vitro assays. Results: In 448 biallelic probands 14 known and 13 novel deep-intronic variants were found, resulting in pseudoexon (PE) insertions or exon elongations in 105 alleles. Intriguingly, intron 13 variants c.1938-621G>A and c.1938-514G>A resulted in dual PE insertions consisting of the same upstream, but different downstream PEs. The intron 44 variant c.6148-84A>T resulted in two PE insertions and flanking exon deletions. Eleven distinct large deletions were found, two of which contained small inverted segments. Uniparental isodisomy of chromosome 1 was identified in one proband. Conclusion: Deep sequencing of ABCA4 and midigene-based splice assays allowed the identification of SVs and causal deep-intronic variants in 25% of biallelic STGD1 cases, which represents a model study that can be applied to other inherited diseases. Fil: Khan, Mubeen. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Cornelis, Stéphanie S.. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Del Pozo Valero, Marta. Hospital Universitario Fundación Jiménez Díaz; España. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Whelan, Laura. Trinity College; Estados Unidos Fil: Runhart, Esmee H.. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Mishra, Ketan. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Bults, Femke. Radboud University Nijmegen Medical Centre; Países Bajos Fil: AlSwaiti, Yahya. St John of Jerusalem Eye Hospital Group; Palestina (ANP) Fil: AlTalbishi, Alaa. St John of Jerusalem Eye Hospital Group; Palestina (ANP) Fil: De Baere, Elfride. University of Ghent; Bélgica Fil: Banfi, Sandro. Seconda Universita Degli Studi Di Napoli; Italia Fil: Banin, Eyal. The Hebrew University of Jerusalem; Israel Fil: Bauwens, Miriam. University of Ghent; Bélgica Fil: Ben Yosef, Tamar. The Ruth And Bruce Rappaport Faculty Of Medicine; Israel Fil: Boon, Camiel J. F.. Leiden University. Leiden University Medical Center; Países Bajos Fil: van den Born, L. Ingeborgh. Rotterdam Ophthalmic Institute; Países Bajos Fil: Defoort, Sabine. Universite Lille; Francia Fil: Devos, Aurore. Universite Lille; Francia Fil: Dockery, Adrian. Trinity College; Estados Unidos Fil: Dudakova, Lubica. Charles University and General University Hospital; República Checa Fil: Fakin, Ana. Charles University and General University Hospital; República Checa Fil: Farrar, G. Jane. Trinity College; Estados Unidos Fil: Ferraz Sallum, Juliana Maria. Universidade Federal de Sao Paulo; Brasil Fil: Fujinami, Kaoru. UCL Institute of Ophthalmology; Reino Unido Fil: Gilissen, Christian. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Glavac, Damjan. University of Ljubljana; Eslovenia Fil: Gorin, Michael B.. University of California at Los Angeles. School of Medicine; Estados Unidos Fil: Greenberg, Jacquie. University of Cape Town; Sudáfrica Fil: Hayashi, Takaaki. The Jikei University School of Medicine; Japón Fil: Hettinga, Ymkje M.. Bartiméus Diagnostic Center for Complex Visual Disorders; Países Bajos Fil: Hoischen, Alexander. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Hoyng, Carel B.. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Hufendiek, Karsten. University Eye Hospital Hannover Medical School; Alemania Fil: Jägle, Herbert. University Regensburg; Alemania Fil: Kamakari, Smaragda. OMMA Ophthalmological Institute of Athens; Grecia Fil: Karali, Marianthi. Seconda Universita Degli Studi Di Napoli; Italia Fil: Kellner, Ulrich. No especifíca; Fil: Klaver, Caroline C. W.. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Kousal, Bohdan. Charles University and General University Hospital; República Checa Fil: Lamey, Tina M.. University of Western Australia; Australia Fil: MacDonald, Ian M.. University of Alberta; Canadá Fil: Matynia, Anna. University of California at Los Angeles. School of Medicine; Estados Unidos Fil: McLaren, Terri L.. University of Western Australia; Australia Fil: Mena, Marcela D.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina Fil: Meunier, Isabelle. Université Montpellier II; Francia Fil: Miller, Rianne. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Newman, Hadas. Universitat Tel Aviv; Israel Fil: Ntozini, Buhle. University of Cape Town; Sudáfrica Fil: Oldak, Monika. No especifíca; Fil: Pieterse, Marc. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Podhajcer, Osvaldo Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina Fil: Puech, Bernard. Universite Lille; Francia Fil: Ramesar, Raj. University of Cape Town; Sudáfrica Fil: Rüther, Klaus. No especifíca; Fil: Salameh, Manar. No especifíca; Fil: Salles, Mariana Vallim. Universidade de Sao Paulo; Brasil Fil: Sharon, Dror. The Hebrew University of Jerusalem; Israel Fil: Simonelli, Francesca. Seconda Universita Degli Studi Di Napoli; Italia Fil: Spital, Georg. No especifíca; Fil: Steehouwer, Marloes. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Szaflik, Jacek P.. No especifíca; Fil: Thompson, Jennifer A.. No especifíca; Fil: Thuillier, Caroline. Universite Lille; Francia Fil: Tracewska, Anna M.. No especifíca; Fil: van Zweeden, Martine. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Vincent, Andrea L.. University of Auckland; Nueva Zelanda Fil: Zanlonghi, Xavier. No especifíca; Fil: Liskova, Petra. Charles University and General University Hospital; República Checa Fil: Stöhr, Heidi. Universitat Regensburg; Alemania Fil: De Roach, John N.. University of Western Australia; Australia Fil: Ayuso, Carmen. Hospital Universitario Fundación Jiménez Díaz; España Fil: Roberts, Lisa. University of Cape Town; Sudáfrica Fil: Weber, Bernhard H. F.. Universitat Regensburg; Alemania Fil: Dhaenens, Claire Marie. Universite Lille; Francia Fil: Cremers, Frans P. M.. Radboud University Nijmegen Medical Centre; Países Bajos

Prisotnost barvil v odpadni vodi je nesprejemljiva tako iz estetskega kot tudi iz ekološkega stališča. Problematika prvega izhaja iz dejstva, da so odpadne vode, ki vsebujejo barvila, intenzivno obarvane že pri zelo nizkih koncentracijah barvil. Bolj pereča kot estetska je okoljska problematika barvil v odpadni vodi. Objektivno tveganje, ki ga predstavljajo za okolje, je odvisno od strukturnih in fizikalnih karakteristik barvil, njihove koncentracije ter časa izpostavitve v okolju. V okviru predmeta se prouči razpoložljive tehnologije čiščenja obarvanih vod, kar pa kaže na to, da ni enostavnih, učinkovitih in hkrati cenovno sprejemljivih načinov čiščenja tako kompleksnih odpadnih vod, kot so obarvane odpadne vode.

Vaje »Sodobni postopki barvanja in barva« obravnavajo sistematiko in nomenklaturo barvil, fizikalno kemijo barvalnih procesov ter uporabo naprednih materialov in tehnik pri procesu barvanja. Največji del je posvečen posebnim postopkom, ki omogočajo sodoben način barvanja ob istočasnem doseganju višjega nivoja kakovosti tako v smislu ekologije, kot v doseganju več funkcionalnih lastnosti materialov in barvanju z naravnimi barvili. Postopki, ki jih posebej proučujemo so barvanje pri pogojih super kritičnega CO2, barvanje ob souporabi ultrazvoka ali predhodne plazma obdelave in barvanje s funkcionalnimi barvil. Ta vrsta barvil nam omogoča posebnosti kot so: termokromija, fotokromija, elektrokromija, solvatokromija in ostale učinke povezane z uporabo teh barvil.

Simple Summary Gelsolin amyloidosis is a rare autosomal dominant genetic disease, which typically affects the cornea, skin and sometimes other organ systems and is caused by mutations in a gene coding for gelsolin protein (GSN). We describe a novel mutation of GSN gene, p.Glu580Lys, associated with gelsolin amyloidosis in six members of a two-generation family, who exhibited lattice corneal dystrophy, loose facial skin and irregular heart rhythm. In one patient we reported optic nerve impairment, which is possibly a novel feature associated with gelsolin amyloidosis. Abstract Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys. We studied DNA samples of seven members of a two-generation family. Exome sequencing was performed in the proband, and targeted Sanger sequencing in the others. The heterozygous GSN variant p.Glu580Lys was identified in six patients. The patients exhibited corneal dystrophy (5/6), loose skin (5/6) and/or heart arrhythmia (3/6) and one presented with bilateral optic neuropathy. The impact of the mutation on the protein structure was evaluated in silico. The substitution is located in the fifth domain of gelsolin protein, homologous to the second domain harboring the most common pathogenic variant p.Asp214Asn. Structural investigation revealed that the mutation might affect protein folding. Histopathological analysis showed amyloid deposits in the skin. The p.Glu580Lys is associated with corneal dystrophy, strengthening the association of the fifth domain of gelsolin protein with the typical amyloidosis phenotype. Furthermore, optic neuropathy may be related to the disease and is essential to identify before discussing corneal transplantation.

Cultural practices of exploring, revitalizing, interpreting and developing cultural heritage have become an important driving force in alleviating the social, cultural, environmental and economic challenges of today's world and in initiating sustainable progress in local communities. The interpretation of cultural uniqueness is not only in the hands of professionals from heritage institutions or research centres, but also in the hands of local residents, who are recognized as heritage bearers, cultural activists, practitioners and transmitters of heritage to the younger generations. The main objective of the model is to describe steps to achieve community involvement in cultural heritage projects and guidelines for carrying out the valorisation process with the active participation of the local population. The model outlines interesting and instructive case studies of how different interactive and "soft" methods can be used to build communities by following both top-down and bottom-up approaches. In addition, presented practices also show how to convince the younger generation that local heritage offers many opportunities to put bold ideas into practice.

Purpose: Using exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored autosomal recessive Stargardt disease (STGD1) as a model to identify the missing heritability.Methods: Sequencing of ABCA4 was performed in 8 STGD1 cases with one variant and p.Asn1868Ile in trans, 25 cases with one variant, and 3 cases with no ABCA4 variant. The effect of intronic variants was analyzed using in vitro splice assays in HEK293T cells and patient-derived fibroblasts. Antisense oligonucleotides were used to correct splice defects.Results: In 24 of the probands (67%), one known and five novel deep-intronic variants were found. The five novel variants resulted in messenger RNA pseudoexon inclusions, due to strengthening of cryptic splice sites or by disrupting a splicing silencer motif. Variant c.769-784C>T showed partial insertion of a pseudoexon and was found in cis with c.5603A>T (p.Asn1868Ile), so its causal role could not be fully established. Variant c.4253+43G>A resulted in partial skipping of exon 28. Remarkably, antisense oligonucleotides targeting the aberrant splice processes resulted in (partial) correction of all splicing defects.Conclusion: Our data demonstrate the importance of assessing noncoding variants in genetic diseases, and show the great potential of splice modulation therapy for deep-intronic variants.

X-linked retinopathies represent a significant proportion of monogenic retinal disease. They include progressive and stationary conditions, with and without syndromic features. Many are X-linked recessive, but several exhibit a phenotype in female carriers, which can help establish diagnosis and yield insights into disease mechanisms. The presence of affected carriers can misleadingly suggest autosomal dominant inheritance. Some disorders (such as RPGR-associated retinopathy) show diverse phenotypes from variants in the same gene and also highlight limitations of current genetic sequencing methods. X-linked disease frequently arises from loss of function, implying potential for benefit from gene replacement strategies. We review X-inactivation and X-linked inheritance, and explore burden of disease attributable to X-linked genes in our clinically and genetically characterised retinal disease cohort, finding correlation between gene transcript length and numbers of families. We list relevant genes and discuss key clinical features, disease mechanisms, carrier phenotypes and novel experimental therapies. We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X-linked retinoschisis), NYX (complete congenital stationary night blindness (CSNB)), CACNA1F (incomplete CSNB), OPN1LW/OPN1MW (blue cone monochromacy, Bornholm eye disease, cone dystrophy), GPR143 (ocular albinism), COL4A5 (Alport syndrome), and NDP (Norrie disease and X-linked familial exudative vitreoretinopathy (FEVR)). We use a recently published transcriptome analysis to explore expression by cell-type and discuss insights from electrophysiology. In the final section, we present an algorithm for genes to consider in diagnosing males with non-syndromic X-linked retinopathy, summarise current experimental therapeutic approaches, and consider questions for future research.

Giant cell arteritis (GCA) is the most common vasculitis in adults aged ≥ 50 years in Europe. Recently, colour Doppler ultrasonography (CDS) and positron emission tomography-computed tomography (PET/CT) have improved the diagnostic sensitivity. The aim of our study was to determine the incidence of GCA in a well-defined Slovenian region, supported by the temporal artery (TA) biopsy (TAB) or CDS or PET/CT. This prospective study was conducted at the University Medical Centre Ljubljana, the only secondary/tertiary centre in the region, serving a population of 323,297 residents aged ≥ 50 years. Patients with suspected GCA are referred either to the Department of Rheumatology, or in case of severe visual disturbances, to the Department of Ophthalmology. We included all GCA cases diagnosed between 1 January 2012 and 31 December 2017. We diagnosed cranial GCA (c-GCA) using the American College of Rheumatology (ACR) 1990 classification criteria and a positive TAB or TA-CDS. Large vessel GCA (lv-GCA) was diagnosed using CDS or PET/CT. During the 6-year observation, we identified 169 incipient GCA cases (66.3% female, median (IQR) age of 75.1 (68.6-80.0) years). Forty-two (24.8%) patients had lv-GCA, and the others had c-GCA. The estimated annual incidence rates of GCA were overall 8.7 (95% CI 7.5-10.1), c-GCA 6.5 (95% CI 5.5-7.8) and lv-GCA 2.2 (95%CI 1.6-2.9) per 100,000 aged ≥ 50 years. GCA is the most common vasculitis in adults aged ≥ 50 years, with an annual incidence rate of 8.7 per 100,000.

Vitamin A is an essential fat-soluble vitamin that occurs in various chemical forms. It is essential for several physiological processes. Either hyper- or hypovitaminosis can be harmful. One of the most important vitamin A functions is its involvement in visual phototransduction, where it serves as the crucial part of photopigment, the first molecule in the process of transforming photons of light into electrical signals. In this process, large quantities of vitamin A in the form of 11-cis-retinal are being isomerized to all-trans-retinal and then quickly recycled back to 11-cis-retinal. Complex machinery of transporters and enzymes is involved in this process (i.e., the visual cycle). Any fault in the machinery may not only reduce the efficiency of visual detection but also cause the accumulation of toxic chemicals in the retina. This review provides a comprehensive overview of diseases that are directly or indirectly connected with vitamin A pathways in the retina. It includes the pathophysiological background and clinical presentation of each disease and summarizes the already existing therapeutic and prospective interventions.

The optimized preparation of novel electrospun nanofibrous composites from cellulose acetate (CA) and ultra-high silica zeolites (UHSZ) are reported as a promising material for the adsorption of Volatile Organic Compound (VOCs). Two types of UHSZs, i.e. silicalite and USY were prepared by hydrothermal crystallization while the fabrication of composites was performed using single needle and needle-less electrospinning systems, demonstrating the scalability of the composite fibres’ manufactured. Herein, factors such as properties of spinning solutions and electrospinning process parameters were studied, as well as interactions between the CA and UHSZs. In addition, Quartz Crystal Microbalance - Dissipation technique (QCM-D) was employed with an aim to study the adsorption behaviour of newly developed composites using ammonia as a model pollutant. The QCM-D data revealed that the presence of UHSZs in the CA materials increased adsorption capacity, designating CA/UHSZ composites as potential materials suitable for a large-scale removal of VOCs from polluted air.

Purpose: Usher syndrome (USH) is a multisensory deficiency involving vision, hearing and the vestibular system. The purpose of this study is to report on the functional data (i.e. electroretinography, visual fields, visual acuity) of patients with retinitis pigmentosa (RP) due to Usher syndrome that were collected in a multicentre European study (TREATRUSH). Methods: A total of 268 genetically confirmed USH patients underwent electrophysiological examinations in the context of multimodal ophthalmological examination in the study (75 USH1, 189 USH2 and four USH3). Full-field electroretinography (ERG) was performed according to ISCEV standards, visual field determination was carried out with either the Octopus or Goldmann perimeters and visual acuity was examined with either ETDRS or Snellen charts. The data were compared between USH subtypes (USH1/USH2/USH3) and correlated with age. Results: Visual acuity decreases significantly with age for both USH1 and USH2 (p < 0.001), without a difference between the two cohorts. When corrected for age, the preserved kinetic visual field was significantly larger in USH2 than in USH1 (p = 0.04). Furthermore, the preserved kinetic visual field area showed a significant decrease with age (based on an exponential fit) in both USH1 and USH2 (p < 0.001). In USH1 patients, however, the visual field was already vastly reduced at an early age. The ERG results were abnormal in all patients. Detectable data for scotopic ERG were obtained from nine patients, and data of photopic ERG were obtained from 24 patients, without a difference between USH1 and USH2 subtypes. Conclusions: There are differences in the phenotypes of RP in USH subtypes, most visible in the progression of visual fields between USH1 and USH2. The perimetric reduction occurs earlier in USH1 than in USH2. In both subtypes, visual acuity decreases significantly with age and the ERG is not detectable already at early ages. Purpose: Usher syndrome (USH) is a multisensory deficiency involving vision, hearing and the vestibular system. The purpose of this study is to report on the functional data (i.e. electroretinography, visual fields, visual acuity) of patients with retinitis pigmentosa (RP) due to Usher syndrome that were collected in a multicentre European study (TREATRUSH). Methods: A total of 268 genetically confirmed USH patients underwent electrophysiological examinations in the context of multimodal ophthalmological examination in the study (75 USH1, 189 USH2 and four USH3). Full-field electroretinography (ERG) was performed according to ISCEV standards, visual field determination was carried out with either the Octopus or Goldmann perimeters and visual acuity was examined with either ETDRS or Snellen charts. The data were compared between USH subtypes (USH1/USH2/USH3) and correlated with age. Results: Visual acuity decreases significantly with age for both USH1 and USH2 (p < 0.001), without a difference between the two cohorts. When corrected for age, the preserved kinetic visual field was significantly larger in USH2 than in USH1 (p = 0.04). Furthermore, the preserved kinetic visual field area showed a significant decrease with age (based on an exponential fit) in both USH1 and USH2 (p < 0.001). In USH1 patients, however, the visual field was already vastly reduced at an early age. The ERG results were abnormal in all patients. Detectable data for scotopic ERG were obtained from nine patients, and data of photopic ERG were obtained from 24 patients, without a difference between USH1 and USH2 subtypes. Conclusions: There are differences in the phenotypes of RP in USH subtypes, most visible in the progression of visual fields between USH1 and USH2. The perimetric reduction occurs earlier in USH1 than in USH2. In both subtypes, visual acuity decreases significantly with age and the ERG is not detectable already at early ages.

Purpose: The aim of this study is to report on the results of color vision testing in a European cohort of patients with Usher syndrome (USH). We describe the results in relation to Usher type (USH1 and USH2), age and visual acuity. Methods and methods: The color vision of 220 genetically confirmed adult USH patients, aged 18–70 years, was analyzed with one of three methods: the Farnsworth D-15 Dichotomous test (D-15) along with the Lanthony desaturated 15 Hue tests (D-15d), the Roth 28-Hue test, or the Ishihara 14-plate test. Visual acuity was measured with either the ETDRS or the SNELLEN charts. The Confusion index, the Selectivity index and the Confusion angle were calculated for the panel tests and used for analysis. The numbers of plates that could not be read were analyzed for the Ishihara test. Results: For the panel tests, the degree of color loss (Confusion index) is similar in both subtypes of USH, but the polarization of error scores (Selectivity index) is significantly lower in USH1 than USH2, showing more diffuse errors than those found in USH2. There is no significant correlation between logMAR visual acuity and the Confusion or the Selectivity indices. Additionally, we find a significant correlation between patient age and the degree and the polarity of the loss only in USH2. There was no difference between USH1 and USH2 in the results of the Ishihara test. Conclusions: The examination of color vision in patients with USH shows a significant difference in the pattern of color vision loss in USH1 and USH2 patients, but not in the severity of the loss. In USH2, we find a correlation between patient age and the degree and the polarity of the loss. These results may be due to differences in the pathogenesis of retinal dystrophy in USH1 and USH2. Purpose: The aim of this study is to report on the results of color vision testing in a European cohort of patients with Usher syndrome (USH). We describe the results in relation to Usher type (USH1 and USH2), age and visual acuity.Methods and methods: The color vision of 220 genetically confirmed adult USH patients, aged 18-70years, was analyzed with one of three methods: the Farnsworth D-15 Dichotomous test (D-15) along with the Lanthony desaturated 15 Hue tests (D-15d), the Roth 28-Hue test, or the Ishihara 14-plate test. Visual acuity was measured with either the ETDRS or the SNELLEN charts. The Confusion index, the Selectivity index and the Confusion angle were calculated for the panel tests and used for analysis. The numbers of plates that could not be read were analyzed for the Ishihara test.Results: For the panel tests, the degree of color loss (Confusion index) is similar in both subtypes of USH, but the polarization of error scores (Selectivity index) is significantly lower in USH1 than USH2, showing more diffuse errors than those found in USH2. There is no significant correlation between logMAR visual acuity and the Confusion or the Selectivity indices. Additionally, we find a significant correlation between patient age and the degree and the polarity of the loss only in USH2. There was no difference between USH1 and USH2 in the results of the Ishihara test.Conclusions: The examination of color vision in patients with USH shows a significant difference in the pattern of color vision loss in USH1 and USH2 patients, but not in the severity of the loss. In USH2, we find a correlation between patient age and the degree and the polarity of the loss. These results may be due to differences in the pathogenesis of retinal dystrophy in USH1 and USH2.

Multiwall carbon nanotubes were coupled with titanium dioxide (in different mole ratios of titanium and carbon) at the nano-scale, using a simple sonochemical and calcination process. The titanium dioxide-multiwall carbon nanotubes nanocomposites were for the first time surface modified with an innovative biotechnology-based reaction by using laccase to activate and covalently graft gallic acid dimers/oligomers/polymers on the nanocomposite surface in order to impart new functionalities and to minimize the nanocomposites’ toxicity. Structure of the titanium dioxide-multiwall carbon nanotubes, before and after surface modification, was investigated with X-ray powder diffraction, infrared, and UV-visible diffuse reflectance spectroscopy analysis, and scanning electron microscopy. The results indicated preferential formation of anatase titanium dioxide on one hand and covalent grafting of gallic acid dimers/oligomers/polymers functionalities on the nanocomposite surface, on the other. After modification, the antioxidant activity was analyzed using 2,2-azino-bis(3-ethylbenzothiazoline-6-sulphonic acid) (ABTS) and photocatalytic activity toward the liquid-phase degradation of methylene blue in aqueous solution under both UV and visible light irradiation. Up to 98% antioxidant activity of the surface modified nanocomposites was established after 24 h of incubation, whereas non-modified nanocomposite induced the formation of the ABTS•+ radicals. In addition, 1.3-2.8-fold reduction in photocatalytic activity was achieved, depending on the irradiation. Accordingly, the gallic acid dimers/oligomers/polymers modified titanium dioxide-multiwall carbon nanotubes appear to simultaneously exhibit photocatalytic activity with an ability to scavenge free radicals, and can thus be considered as engineered nanoparticles with low toxicity.

Numerous causalities, including attempts at penile augmentation with silicone or paraffin, can lead to extensive circular penile shaft defects. Reconstruction is challenging and skin grafting is a suboptimal option despite its widespread use. We present a surgical technique for penile shaft reconstruction with a bipedicled anterior scrotal flap.A retrospective data analysis was performed of patients treated for symptomatic penile siliconomas who underwent subsequent penile reconstruction with a bipedicled anterior scrotal flap between 2010 and 2015. The surgical technique is described and depicted in detail.A total of 43 men were treated with radical circular excision of penile siliconomas and extensive shaft defects were reconstructed with a bipedicled anterior scrotal flap. Mean ± SD age was 36.95 ± 11.27 years, mean followup duration was 10.69 ± 9.54 months and mean operative time was 2.53 ± 0.46 hours. The operation proved uneventful in all cases. Only minor complications were observed, such as partial necrosis in 9% of patients, hematoma of the donor site in 12% and partial wound disruption in 19%. The mean patient satisfaction score was 4.37 on a scale of 1 to 5. All patients reported postoperative erection ability and the ability to achieve sexual intercourse.We present a surgical technique to reconstruct extensive penile shaft defects with an axial scrotal flap, which provides well vascularized coverage with comparable donor skin quality and thickness. The results are associated with minor donor site morbidity, good functional and aesthetic outcomes, and high patient satisfaction.

Breast augmentation surgery is one of the crucial procedures in male-to-female gender reassignment surgery. It is performed by implantation of silicone prostheses and/or lipofilling and can, if requested, be well integrated within the vaginoplasty surgical session, hence avoiding further anesthesia. This procedure, however, remains challenging as there are fundamental anatomical landmarks and differences between trans woman and cis woman chest. This is particularly relevant in assessing the thoracic proportions, breast and nipple positioning, their forms and sizes, as well as the synchrony with the rest of the body. Furthermore, the treatment should be personalized, addressing the patient’s individual desires and significantly contributing to the healing process of gender dysphoria.

Stargardt disease is a progressive retinal disorder caused by bi-allelic mutations in the ABCA4 gene that encodes the ATP-binding cassette, subfamily A, member 4 transporter protein. Over the past few years, we and others have identified several pathogenic variants that reside within the introns of ABCA4, including a recurrent variant in intron 36 (c.5196+1137G>A) of which the pathogenicity so far remained controversial. Detailed clinical characterization of this variant confirmed its pathogenic nature, and classified it as an allele of intermediate severity. Moreover, we discovered several additional ABCA4 variants clustering in intron 36. Several of these variants resulted in aberrant splicing of ABCA4, i.e., the inclusion of pseudoexons, while the splicing defects caused by the recurrent c.5196+1137G>A variant strongly increased upon differentiation of patient-derived induced pluripotent stem cells into retina-like cells. Finally, all splicing defects could be rescued by the administration of antisense oligonucleotides that were designed to specifically block the pseudoexon insertion, including rescue in 3D retinal organoids harboring the c.5196+1137G>A variant. Our data illustrate the importance of intronic variants in ABCA4 and expand the therapeutic possibilities for overcoming splicing defects in Stargardt disease., Graphical Abstract, Khan et al. report on the clinical characterization of patients harboring a recurrent deep-intronic variant in ABCA4 underlying retinal disease and demonstrate that this, and other variants close by, lead to splicing defects that can be rescued by antisense oligonucleotides.

The chapter discusses the integration of civil society into planning, development, and governance of urban green spaces (UGS). The principles of participatory democracy and sustainable development inevitably require a more integrated approach to collaboration and networking among different sectors and actors. Until recently, the citizens/communities were only sporadically involved in decision-making and planning processes of UGS, which led to practices of urban development that failed to account for their needs. The crucial question is: What are the potentials and limits of engaging and involving people and communities in planning and playing an active part in the development of UGS? Specifically, the chapter discusses how theoretical concepts that often work well in strategies or development programs are only slowly implemented in practice. This raises the question of the obstacles and benefits faced by municipalities when trying to involve local communities in planning activities. First, the authors discuss the theory and practice of participation and community involvement in urban planning and management. Second, they present an overview of the local cases of UGS development in three Central and Eastern European cities (Maribor, Krakow, and Budapest), and thirdly, linking practice and theory, they discuss the intrinsic issues with community formation and sustainability.

Ex situ catalytic biomass pyrolysis was investigated at both laboratory and bench scale by using a zeolite ZSM-5-based catalyst for selectively upgrading the bio-oil vapors. The catalyst consisted of nanocrystalline ZSM-5, modified by incorporation of ZrO2 and agglomerated with attapulgite (ZrO2 /n-ZSM-5-ATP). Characterization of this material by means of different techniques, including CO2 and NH3 temperature-programmed desorption (TPD), NMR spectroscopy, UV/Vis microspectroscopy, and fluorescence microscopy, showed that it possessed the right combination of accessibility and acid-base properties for promoting the conversion of the bulky molecules formed by lignocellulose pyrolysis and their subsequent deoxygenation to upgraded liquid organic fractions (bio-oil). The results obtained at the laboratory scale by varying the catalyst-to-biomass ratio (C/B) indicated that the ZrO2 /n-ZSM-5-ATP catalyst was more efficient for bio-oil deoxygenation than the parent zeolite n-ZSM-5, producing upgraded bio-oils with better combinations of mass and energy yields with respect to the oxygen content. The excellent performance of the ZrO2 /n-ZSM-5-ATP system was confirmed by working with a continuous bench-scale plant. The scale-up of the process, even with different raw biomasses as the feedstock, reaction conditions, and operation modes, was in line with the laboratory-scale results, leading to deoxygenation degrees of approximately 60 % with energy yields of approximately 70 % with respect to those of the thermal bio-oil.

Ex situ catalytic biomass pyrolysis was investigated at both laboratory and bench scale by using a zeolite ZSM-5-based catalyst for selectively upgrading the bio-oil vapors. The catalyst consisted of nanocrystalline ZSM-5, modified by incorporation of ZrO

The rapid growth in wearable technology has recently stimulated the development of conductive textiles for broad application purposes, i.e., wearable electronics, heat generators, sensors, electromagnetic interference (EMI) shielding, optoelectronic and photonics. Textile material, which was always considered just as the interface between the wearer and the environment, now plays a more active role in different sectors, such as sport, healthcare, security, entertainment, military, and technical sectors, etc. This expansion in applied development of e-textiles is governed by a vast amount of research work conducted by increasingly interdisciplinary teams and presented systematic review highlights and assesses, in a comprehensive manner, recent research in the field of conductive textiles and their potential application for wearable electronics (so called e-textiles), as well as development of advanced application techniques to obtain conductivity, with emphasis on metal-containing coatings. Furthermore, an overview of protective compounds was provided, which are suitable for the protection of metallized textile surfaces against corrosion, mechanical forces, abrasion, and other external factors, influencing negatively on the adhesion and durability of the conductive layers during textiles’ lifetime (wear and care). The challenges, drawbacks and further opportunities in these fields are also discussed critically.

The emerging industrialization of cellulosic bioethanol will create large amounts of lignin-rich residues, so called hydrolysis-lignin, which may be used as a raw material for further fuel production. In this study, fermentable sugars were removed from hardwood and softwood substrates by combining steam explosion and enzymatic saccharification with a cellulose hydrolysis yield of 90.1% and 41.5%, respectively. The remaining lignin-residues were further processed using intermediate pyrolysis to produce bio-oils, gas and char. The pyrolysis of hydrolysis-residues was compared with the pyrolysis of the original hardwood and softwood substrates. Overall, the lignin-enriched residues yielded up to 30 wt% of bio-oils. By applying low cost ZSM-5 vapour cracking catalysts, produced by template-free methods, the content of monophenolics in this fraction could be increased to more than 80 wt%. Thus, this study shows that by using enzyme technology, lignin and carbohydrates can be separated and a liquid sugar stream generated. This wood-based sugar stream can then be converted by fermentation or chemical methods to fuels and chemicals. The remaining lignin-rich residue is a valuable source for bio-based aromatics. This process of separate conversion of sugars and lignin further results in an improved overall product yield compared to the direct pyrolysis of the original wood biomass. Additionally, the pyrolysis of lignin-residues produces a simpler oil of higher quality than the pyrolysis of wood. The process of thermochemically converting lignin-rich hydrolysis residues is a simple and viable option for existing bioethanol plants to improve their process economics and diversify the product portfolio.

Introduction: The management of painful end-neuromas of the superficial branch of the radial nerve (SBRN) remains challenging due to high levels of pain relapse. The novel technique of stromal vascular fraction (SVF)-enriched fat grafting showed continuous pain relief, although failed to prove statistically significant. Besides acting as a mechanical barrier, SVF-enriched fat grafting might also affect the cellular level. The aim of the study was to compare clinical outcomes of SVF to the widely popular intramuscular transposition technique. Patients and Methods: In this cohort study 10 consecutive patients treated for painful end-neuromas of the SBRN between 2010 and 2013 were analyzed retrospectively. Microsurgical resection of end-neuromas was performed in all patients. Five patients were treated with subsequent intramuscular transposition into the brachioradialis muscle and five patients received SVF-enriched fat grafting. Five different pain modalities and various predictors were compared pre- and up to 36 months postoperatively. Results: In the transposition group, sustained pain reduction was not observed after an initial significant reduction 2 months’ post-surgery, resulting in pain relapse at 36 months and comparable to the preoperative assessment. In the graft group, some degree of pain reduction was observed at 2 months after the surgery and proved to be constant in the long-term outcome, although not statistically significant compared to preoperative levels. Conclusion: Both SVF-enriched fat grafting and intramuscular transposition failed to prove statistical significant pain reduction in treating of symptomatic neuromas of peripheral nerves.

Purpose To determine the spectrum of BEST1 mutations and to study the phenotype in Slovenian families with Best vitelliform macular dystrophy (BVMD) to identify genotype–phenotype correlations. Methods Twenty patients from five families underwent the ophthalmological examination including electrooculogram (EOG; N = 17), fundus autofluorescence imaging (N = 16) and optical coherence tomography (N = 14). Mutational screening was performed by direct DNA sequencing of the BEST1 gene. Results Mutation c.43G>C (p.Gly15Arg) was detected in three patients from family M presenting with different clinical stages of Best disease. Mutation c.313G>C (p.Arg105Gly) was found in families K, ST, S, B and was associated with incomplete clinical penetrance and variable retinal changes, including extramacular and multifocal lesions. In three patients from family K, an atypical form of BVMD was observed; there were additional peripheral lesions outside of the vascular arcades in addition to the typical macular lesions. Multiple alterations between the vitelliruptive and pseudohypopyon stages over a period of 11 years were seen in one patient. Conclusion Two previously unreported disease-associated variants in the BEST1 gene (p.Gly15Arg and p.Arg105Gly) were found in Slovenian patients with Best disease. Our data expand the mutation spectrum of the BEST1 gene and further support the broad phenotypic variability observed clinically and with optical coherence tomography (OCT) and AF imaging.

Introduction None of the existing treatments in the management of painful end-neuromas of the superficial branch of the radial nerve (SBRN) has been proven superior due to high levels of pain relapse. Fat grafts enriched with the stromal vascular fraction (SVF) could act as a mechanic barrier with biological effects decreasing the resorption rate and boosting the graft's regenerative potential. This study describes the novel surgical treatment technique of SVF-enriched fat grafting. Patients and Methods In this clinical study, five consecutive patients treated for painful end-neuromas of the SBRN between 2012 and 2013 were analyzed retrospectively. Microsurgical resection of end-neuromas followed by SVF-enriched fat grafting around the nerve stump was performed in all patients. Five different pain modalities and various predictors were compared pre- and up to 36 months postoperatively. Results Pain reduction observed at 2 months after surgery was constant over time, though not statistically significant compared to preoperative levels. Spontaneous pain could be reduced from 1.6 ± 0.55 to 1.2 ± 1.1 (p = 0.414), spikes from 2.2 ± 1.3 to 1.4 ± 1.34 (p = 0.180), hyperaesthesia from 1.6 ± 1.14 to 1.2 ± 1.64 (p = 0.713), tap pain from 2.8 ± 0.45 to 1.8 ± 1.3 (p = 0.197) and motion pain from 2.8 ± 0.45 to 1.4 ± 1.34 (p = 0.066). An improvement in overall pain reduction could be observed from 2.2 ± 0.97 to 1.4 ± 1.26 3 years after the surgery (p = 0.104). Conclusion SVF-enriched fat grafting represents another alternative to numerous available treatments of painful end-neuromas of the SBRN. Our preliminary results could not show any significant difference in pain reduction following SVF-enriched fat grafting. Further larger trials are required in order to evaluate the therapeutic potential of SVF-enriched fat grafting.