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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.

Four patients with traumatic mydriasis and aphakia following blunt injury of the eye globe were evaluated. Patients with severe glare and photophobia due to wide pupil diameter from 6.0 to 9.0 mm were managed by combined iris cerclage pupilloplasty and retropupillar iris-claw lens implantation. The postoperative anatomic results, visual acuity, subjective degree of glare, photophobia, as well as intraoperative and postoperative complications were evaluated. The mean follow-up time was 32.6 months. Best-corrected visual acuity improved in all patients from preoperative 20/60, 20/30, 20/25, 20/22 to postoperative 20/20, 20/22, 20/20, and 20/20 (Snellen charts). All eyes achieved satisfactory anatomic result with round pupil diameter 3.5–4.5 mm. Glare and photophobia disappeared in all patients. There were no intraoperative or postoperative complications. During the follow-up period, pupils remained round and iris-claw lenses well positioned, without tilting. Combined iris cerclage pupilloplasty with retropupillar iris claw lens implantation appears to be a safe and effective surgical technique in reducing pupil size and improving visual outcomes. It is also a cost- and time-effective procedure, providing great results with a single surgery.

Collagen membranes are routinely used in oral surgery for bone regeneration. Despite their numerous advantages, such as stimulating bone growth, bacterial contamination still remains one of the disadvantages of membrane use. Thus, we assessed the biocompatibility and osteogenic and antibacterial properties of a collagen membrane (OsteoBiol) modified with chitosan (CHI) and hydroxyapatite nanoparticles (HApNPs). Attenuated total reflectance-Fourier transform infrared spectroscopy (ATR FT-IR), X-ray powder diffraction (XRD), and field emission scanning electron microscopy (FE-SEM) were performed for membrane characterization. Biocompatibility was assessed on dental pulp stem cells (DPSCs) by an MTT assay, while the osteogenic effect was assessed by an ALP activity assay and qPCR analysis of osteogenic markers (BMP4, ALP, RUNX2, and OCN). Antimicrobial properties were investigated by counting colony-forming units (CFUs) of Streptococcus mitis, Porphyromonas gingivalis, and Fusobaterium nucleatum on membranes and in the surrounding medium. Membranes showed no cytotoxicity. ALP activity was higher and ALP, BMP4, and OCN genes were up-regulated in DPSCs on modified membranes compared to unmodified membranes. The CFUs were reduced on modified membranes and in the medium. Modified membranes showed great biocompatibility and a high osteoinductive effect. Additionally, they showed antimicrobial and antibiofilm effects against periopathogens. It can be concluded that the incorporation of CHI and hydroxyapatite nanoparticles in collagen membranes may be advantageous to promote osteogenesis and reduce bacterial adhesion.

Abstract Precision and ultra-precision surfaces are crucial for many products – quality optics, joint & cranial implants, turbine blades, and industrial moulds & dies, to name a few. Automation in this context is distinct from standard procedures in industry, where the identical sequence of operations can be repeated over and over again. Ultraprecision tolerances may be tens to hundreds of times tighter, and this is compounded by the hundreds of diverse substrate materials in use. Even with modern computer numerically controlled (CNC) machines, skilled craftspeople are needed to plan a process-chain for a new material or geometry. Processes working at these tight tolerances, fall short of being fully-deterministic, so repeated process-metrology iterations are required. Surface-correction loops may be automated, but expert assessment should be performed at each step to check for unexpected anomalies. The ultimate goal of importing a part, processing autonomously, and delivering a finished part to an “optical” specification with no human intervention, is still a long way off. This paper describes the challenge and why it is important. It then melds together process-monitoring, psychology, artificial intelligence and robotics, to take a far-sighted view of how the ultimate goal can be realised.

Dentures and epitheses are mostly made from poly(methyl methacrylate) (PMMA), which does not show antimicrobial properties. They present reservoirs of microorganisms grown in biofilms. The aim of this study is to prepare a PMMA enriched with gold nanoparticles (AuNPs)-PMMA/AuNPs and the examination of its physical, mechanical and antimicrobial properties. The AuNPS were synthetized from HAuCl4 using the ultrasonic spray pyrolysis method with lyophilization. The PMMA/AuNP samples were compared to PMMA samples. Density was measured by pycnometer. Microhardness was evaluated using the Vickers hardness test. Monomicrobial biofilm formation (Streptococcus mitis, Candida albicans, Staphylococcus aureus and Escherichia coli) was measured by colony-forming units (CFUs) and MTT test and visualized by SEM. AuNP release was measured indirectly (the CFUs of the medium around the sample). The density and microhardness of the PMMA/AuNPs were similar to those of the PMMA. CFU and MTT values for the biofilms formed on the PMMA for each of the tested species were higher than those of the biofilms formed on the PMMA/AuNPs. The CFUs of the medium around the sample were similar for both materials. PMMA/AuNPs showed a significant reduction in the monomicrobial biofilms of all tested species. AuNPs are not released from PMMA/AuNPs. Density, indirect measurement of residual monomer and dentures weight were similar between PMMA and PMMA/AuNPs. Microhardness, as a measure of the wear resistance, was also similar between tested discs.

The subgingival biofilm, as the most complex microbial community, has been proven to be reservoir of Candida spp. The main concept of this study was to investigate if there is a difference between the sensitivity of Candida albicans (C. albicans) isolated from tongue and subgingival areas of periodontitis patients to antifungal agents. The aim of the study was to determine: (1) the distribution of different Candida species in the tongue and subgingival samples of periodontitis patients; (2) the susceptibility of Candida albicans strains from tongue and subgingival biofilm to the effects of commonly used antifungal agents: fluconazole, amphotericin B and itraconazole; (3) the correlation between the susceptibility of Candida albicans and clinical periodontal parameters. Tongue and subgingival biofilm samples of periodontitis subjects (N = 163) were examined. Susceptibility was tested when the same Candida species was isolated from both sites (17 subjects). Candida spp. were isolated in 23.3% of tongue and 21.5% of the subgingival samples. All isolates were susceptible to amphotericin B, while 64.71% of tongue and 52.94% of subgingival isolates were susceptible to fluconazole. A low frequency of itraconazole susceptibility was observed for tongue (17.64%) and subgingival isolates (11.76%). The correlations between full-mouth plaque score and Minimal Inhibitory Concentration (MIC) for tongue isolates were strongly positive for all antimycotics. Positive correlation was also observed between moderate periodontal destruction and MICs for tongue and subgingival isolates. The susceptibility of C. albicans to antifungals correlate with oral hygiene and moderate periodontal destruction. There is no difference in antifungal susceptibility between tongue and subgingival isolates.

[Context] Models play an important role in Software and Systems Engineering processes. Reviews are well-established methods for model quality assurance that support early and efficient defect detection. However, traditional document-based review processes have limitations with respect to the number of experts, resources, and the document size that can be applied. [Objective] In this paper, we introduce a distributed and scalable review process for model quality assurance to (a) improve defect detection effectiveness and (b) to increase review artifact coverage. [Method] We introduce the novel concept of Expected Model Elements (EMEs) as a key concept for defect detection. EMEs can be used to drive the review process. We adapt a best-practice review process to distinguish (a) between the identification of EMEs in the reference document and (b) the use of EMEs to detect defects in the model. We design and evaluate the adapted review process with a crowdsourcing tool in a feasibility study. [Results] The study results show the feasibility of the adapted review process. Further, the study showed that inspectors using the adapted review process achieved results for defect detection effectiveness, which are comparable to the performance of inspectors using a traditional inspection process, and better defect detection efficiency. Moreover, from a practical perspective the adapted review process can be used to complement inspection efforts conducted using the traditional inspection process, enhancing the overall defect detection effectiveness. [Conclusions] Although the study shows promising results of the novel process, future investigations should consider larger and more diverse review artifacts and the effect of using limited and different scopes of artifact coverage for individual inspectors.

The Listening Guide (LG) is a relational, voice-centered method to analyzing qualitative research data. This article provides an account of how the LG was modified for a study that examined personal critical reflection papers written by 27 fourth-year dietetics university students after they participated in an arts-informed module on body image in a dietetics professional practice course. By relying on the main principles of the LG, we demonstrate how the LG can help us to listen and hear previously unnoticed and underappreciated voices. The purpose of this article is to serve as a source of guidance and support for researchers looking to implement the LG method beyond its original purpose, which was for transcribed interviews.