bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mantle cell lymphoma: how not to be misled
Authors: Schümmer Laura , Ninclaus Virginie , Callebert Ineke , Lantsoght Helena , Geldhof Kurt , Vermeersch Hubert , De Schryver Ilse 
Published: December 2019

AbstractPurposeTo report a case of a multifocal mantle cell lymphoma (MCL) affecting both nodal and extra nodal sites in the orbital and maxillofacial region.MethodsObservational report of a patient presenting with palpebral masses in both upper eyelids and salivary glands. The patient underwent an extensive multidisciplinary work‐up including MRI, F 18 FDG PET/CT and biopsy with morphological and immunohistochemical analysis.ResultsA 77‐year‐old Caucasian male presented with asymmetrical painless swelling in both upper eyelids for more than 6 months. He reported weight loss but no fever or night sweats. His medical history included a JAK 2 + myeloproliferative disorder. He had no decreased vision and ocular examination was normal. Palpation of the head and neck revealed a swelling of the parotid and submandibular glands as well as a cervical lymphadenopathy. MRI confirmed multifocal lesions in the orbital and maxillofacial region. AS PET/CT scan showed a pathological FDG uptake at both upper eyelids with sparing of the lacrimal glands, the presumed diagnosis of a stage IV lymphoma was withheld. Incisional biopsies of the upper eyelid and supraclavicular node were performed.Immunohistochemical analysis were positive for CD20, CD5, Cyclin D1, Bcl‐2 but negative for CD10 and Bcl‐6. High expression of the proliferation index by Ki‐67 (locally up to 50%) was observed.ConclusionsThe purpose of this case was to describe an uncommon presentation of a non‐Hodgkin lymphoma. The diagnosis of MCL was based on a biopsy with immunohistochemical analysis. Although MCL is relatively uncommon, ophthalmologists should be aware of this rare diagnosis.
3D morphometric study of the nasolacrimal duct and its implication in recanalization of nasolacrimal duct obstruction
Authors: Lee Sohyun , Lee U‐Young , Lee Won‐Joon , Kim Dong‐Ho , Seok Nam Yong , Kim In‐Beom , Kim Yi‐Suk 
Published: December 2019

AbstractPurposesThe nasolacrimal recanalization, consisting of retrograde removal of obstructing tissues using electrocauterization, is an evolutionally developed surgical procedure to treat the nasolacrimal duct (NLD) obstruction. To perform the nasolacrimal recanalization requires an understanding of three‐dimensional (3D) structure of the NLD, but very few data are available about its stereotactic shape. This study aims at investigating the anatomy of the NLD through 3D visualization and metric assessment of 3D models obtained from the cranial CT‐scans.MethodsThis study included 20 males and 20 females (range: 18–68 years), who underwent autopsy at the National Forensic Service Seoul Institute, Seoul, Korea. Post‐mortem cranial CT‐scans were achieved in helical mode with slice thickness of 0.75 mm and 120 kV. 3D models of the NLD were reconstructed from serial CT slices after performing semi‐automated segmentation by tracing and filling the outline of the nasolacrimal duct by Mimics software (version 20.0, Materialise, Leuven, Belgium).ResultsOverall length of NLD, anteroposterior and transverse entrance diameters of bony NLD (BNLD), and lacrimal sac‐BNLD angle was significantly higher in males than females. Compared with right and left, most variables showed no significant differences in statistics, except for lacrimal sac‐BNLD angle. BNLD orientation type in coronal plane showed outward type than inward by over 80%. Collectively, the whole appearance of the NLD was shaped like a bowleg in which the distal part is relatively turned inward.ConclusionThese results suggest that 3D models of the NLD were crucial for understanding structural recognition, mainly related to model‐based image analysis, and useful to aid in the surgical procedure and treatment of the nasolacrimal duct obstruction.The authors wish to acknowledge the financial support of the Catholic Medical Center Research Foundation made in the program year of 2019 (No. 552019B000100003).
Genetic analysis of pseudoexfoliation glaucoma risk in an Irish population
Authors: Eivers Sarah , Greene Alison , Dervan Edward , O’ Brien Colm , Wallace Deborah 
Published: December 2019

AbstractPurposeGlaucoma is an optic neuropathy and a leading cause of irreversible blindness worldwide. Although there are many factors that may contribute to disease predisposition, severity and progression, pseudoexfoliation (PXF) syndrome represents a significant cause for developing open angle glaucoma. Single nucleotide polymorphisms (SNPs) within the lysyl oxidase like (LOXL) 1 gene have been identified as a major risk factor for PXF syndrome and PXF glaucoma (PXFG), specifically SNPs within the exon 1 and intron 1 regions of the gene. The common haplotype (G‐G) of 2 SNPs within exon 1, rs1048661 and rs3825942, are the strongest associated risk factor for PXF in Caucasian populations. However this risk haplotype is switched in some populations. Herein, a study was undertaken to genotype an Irish population for PXF risk‐associated SNPs within the LOXL1 gene.MethodsPatient cohorts of PXFG, PXF and cataract controls were recruited following informed consent. Patients from each cohort were then genotyped for the 2 high risk associated SNPs within exon 1 (rs1048661 and rs3825942), along with 3 SNPs within intron 1 (rs1550437, rs6495085 and rs6495086) of the LOXL1 gene.ResultsThe high risk haplotype (G‐G) was most prevalent in PXFG patients compared to control patients. The low risk (G‐A) haplotype was only seen in control patients. Additionally, genotypes of several SNPs within intron 1 were also found to be present at higher frequencies within the PXFG/PXF patient cohort compared to control patients.ConclusionCollectively, these results represent the first study to genotype PXF‐associated SNPs within LOXL1 in an Irish population and aids in our understanding of the genetic component of developing PXF and PXFG.
Nanofibrous membranes reveal better properties for culturing of RPE cells in comparison with commercial scaffolds
Authors: Ardan Taras , Zemanova Lucie , Ellederova Zdenka , Drutovič Saskia , Studenovská Hana , Popelka Stepan , Kepkova‐Vodickova Katerina , Rohiwal Sonali , Sedlackova Miroslava , Motlik Jan 
Published: December 2019

AbstractPurposeMalfunction of the retinal pigment epithelium (RPE) is a cause of the whole row of retinal degenerative diseases such as age related macular degeneration (AMD). RPE replacement based on transplantation of cultured RPE cells on artificial membranes into the retina can be a perspective way for the therapy of these incurable diseases.MethodsPorcine primary RPE cells were isolated from cadaverous porcine eyes on two types of artificial membranes: commercial polyester scaffolds Transwell and polylactate nanofibrous membrane manufactured by us. Both membranes have the same pore sizes. For the detection of important functional and morphological markers of RPE cells, we used three types of assays ‐ immunocytochemistry, real‐time qPCR and electron microscopy. The ultrastructure of cultured RPE cells was examined by scanning and transmission electron microscopy (EM).ResultsUsing real‐time qPCR assay, we found that cultured cells on nanofibrous membranes demonstrated higher expressions of mRNAs typical for RPE cells. Moreover, immunocytochemical detection of cultured cells on nanomembranes revealed more intensive staining of all important markers in comparison with commercial ones. Electron microscopy of both membranes confirmed a confluent layer of RPE cells and their correct morphological structure, which was comparable with the cells of native RPE. Only on nanofibrous scaffolds and using scanning EM we found the better development of RPE cilia.ConclusionOur results enable us to conclude that RPE culturing on nanomembranes improved the final quality of RPE cells by better maturation and long‐term survival of RPE monolayer in contrary with culturing on commercial scaffolds. Such cultured RPE cells are fully able to replace non‐functioning native RPE cells during cell therapy.
Apparent fiber density of glaucomatous optic nerves
Authors: Haykal Shereif , Jansonius Nomdo , Cornelissen Frans 
Published: December 2019

AbstractPurposeTo investigate alteration of apparent fiber density (AFD), a novel diffusion MRI (dMRI) measure of white matter degeneration, in the optic nerves (ONs) of glaucoma patients. Furthermore, we aimed to study the correlation between AFD of glaucomatous ONs and peripapillary retinal never fiber layer (pRNFL) thickness and visual field mean deviation (VFMD), in order to assess the viability of AFD as a possible alternative measure for diagnosing and monitoring glaucoma.MethodsCross‐sectional study of 15 glaucoma patients and 15 healthy participants. Subjects underwent dMRI scans while being asked to close their eyes and keep eye motion to a minimum. An average population template was produced from the dMRI scans of all the subjects, and probabilistic tractography was then used to track the ONs in template space. Average track AFD was calculated for a single randomly selected ON for each subject. pRNFL thickness and VFMD measurements were acquired using optical coherence tomography and standard automated perimetry, respectively. Average AFD of glaucomatous and normal ONs were compared using ANCOVA, correcting for age as a nuisance covariate, and the correlation between average AFD of glaucomatous ONs and their corresponding pRNFL thickness and VFMD was tested using Spearman’s rank correlation test.ResultsGlaucomatous ONs showed a significantly lower AFD compared to healthy ONs (0.123 ± 0.034 versus 0.212 ± 0.027 a.u., respectively; p < 0.01). Average AFD of glaucomatous ONs showed a strong positive correlation with average pRNFL thickness (r = 0.863, p < 0.01) and VFMD (r = 0.850, p < 0.01).ConclusionsThe ONs of glaucoma patients exhibit a significant loss of AFD, which correlates strongly with both pRNFL thinning and visual field loss. Therefore, measuring ON AFD in glaucoma patients could potentially be an alternative to other established clinical measures, which could prove to be beneficial to patients who are not ideal candidates for certain clinical tests.
Influence of mitochondrial haplogroups in response to ranibizumab teraphy in neovascular age‐related macular degeneration
Authors: Esteban Olivia , Javier Ascaso F. , Lopez Isabel , Marco Sara , Montes Paula , Karlsruher Gisela , Ruiz‐Pesini Eduardo 
Published: December 2019

AbstractPurposeTo analyze the results after one year with intravitreal ranibizumab therapy in neovascular Aged‐related macular degeneration (nAMD) patients according to the mitochondrial‐DNA haplogroup (mt‐DNA Hg)MethodsNinety‐eight eyes corresponding to 91 Caucasian patients with nAMD were treated with an initial series of 3 monthly loading intravitreal ranibizumbab injections 0.5 mg in 0.05 ml followed by a flexible pro re nata (PRN). Patients were classified into four groups according to their mtDNA genetic background determined by PCR (Hg H‐ m.7028C>T; Hg HV‐ m.14766T>C; Hg JT‐ m.421 6T>C; and Hg U‐ m.12308A>G). Statistical tests (chi‐square, Kolmogorov–Smirnov, paired and unpaired t test, ANOVA, Mann–Whitney U, Kruskal–Wallis H, Wilcoxon and Friedman tests). A p value < 0.05 was considered to be statistically significant.ResultsGender, age and risk factors were equally distributed among the four groups. There were no significant differences between groups in baseline best corrected visual acuity (BCVA), central foveal thickness (CFT) and neovascular lesion type. After three loading dose, BCVA and CFT was significantly higher in all Hg without differences between them. Eighteen patients were not included at 12 months because of exclusion criteria. After receiving in average 6.7 ± 1.7 inyections of ranibizumab at 12 month, BCVA and CFT remained stable in haplogroups HV and U without significant worsening; however, haplogroup JT showed lower BCVA and higher CFT values than baseline (p = 1.00). In fact, CFT values were significantly different between groups (p = 0.004, Kruskal–Wallis H test) at 12 month. In particular, haplogroups JT and U were significantly different between them (p = 0.010, multiple comparison tests).ConclusionsmtDNA genetic background showed different response to intravitreal ranibizumab therapy at 12 month. It could be a potencial biomarker to predict the response to intravitreal ranibizumab therapy in nAMD patients.
Changes in the expression of autophagy markers in a rat model of retinopathy of prematurity
Authors: Anna Pesce Noemi , Locri Filippo , Dal Monte Massimo , Andrè Helder 
Published: December 2019

AbstractPurposeAutophagy is an essential process in maintaining the normal cellular homeostasis and energy balance under physiological conditions. In retinal diseases, autophagy helps retinal cells defend themselves against harmful stress; however, excessive autophagy may result in retinal deterioration. Modulating autophagy may provide an alternative therapeutic strategy to treat retinal diseases. Retinopathy of prematurity (ROP) is a human vascular disease characterized by the formation of neovascularization in the premature newborn retina. There is only limited information on the role of autophagy in ROP.MethodsA rat model of oxygen‐induced retinopathy (OIR), an acknowledged model of ROP, was used to evaluate changes in the expression of key mediators of autophagy induced by the disease. In this model, rat pups are exposed to alternating cycles of 50% and 10% oxygen for 24‐h for the first 14 days followed by exposure to the room air until post‐natal day 18. The expression of autophagy markers from birth to post‐natal day 18 was assessed at transcript and protein levels by real‐time PCR and Western blot, respectively. In addition, the phosphorylation status of signaling molecules known to activate or to repress autophagy was investigated.ResultsIn control rats, the autophagic flux decreased over time during post‐natal development. In contrast, in OIR rats the levels of autophagic markers transiently increased at post‐natal day 7 to then gradually decrease until post‐natal day 18.ConclusionsThe present findings sustain the role of dysregulated autophagic processes in the pathogenesis of ROP and point to the targeting of autophagy as a potential treatment for neovascular eye diseases.
Subclinical choroidopathy in systemic lupus erythematosus
Authors: Dias‐Santos Arnaldo , Ferreira Joana , Pinheiro Sofia , Paulo Cunha João , Alves Marta , Luísa Papoila Ana , Francisca Moraes‐Fontes Maria , Proença Rui 
Published: December 2019

AbstractPurposeTo compare choroidal thickness (CT) between patients with systemic lupus erythematosus (SLE) without ophthalmologic manifestations and a control group. To study the effects in CT of disease duration, disease activity index, medication and systemic comorbidities.MethodsCross‐sectional study where spectral‐domain optical coherence tomography with enhanced depth imaging was used to measure CT in 13 locations, subfoveally and at 500‐µm intervals along a horizontal and a vertical section from the fovea. Linear regression models were used.ResultsSixty‐eight SLE patients and fifty healthy controls were enrolled. CT multivariable results showed a trend toward lower values in SLE patients (12.93–26.73 µm thinner) in all locations, except the inferior quadrants (6.48–10.44 µm thicker). Contrary to the control group, the normal topographic variation in CT between macular quadrants and form the center to the periphery was not observed in the SLE group. Multivariable analysis in SLE group alone revealed a significant negative association with anticoagulants (50.10–56.09 µm thinner) and lupus nephritis (40.79–58.63 µm thinner), and a positive association with secondary Sjogren’s syndrome (73.07 µm thicker). Contrary to controls, SLE patients’ CT did not respond to changes in mean arterial pressure.ConclusionsCT in SLE appears to be thinner, particularly in the subset of patients with nephritis and taking anticoagulants, suggesting more advanced systemic vascular disease. Choroidal responses to hemodynamic changes may also be altered in SLE.
Comparison between color light‐emitting diode corneal topographer and scheimpflug imager in measuring corneal astigmatism and corneal higher order aberrations
Authors: Hwang Yousook , Kim Da Yeoung , Chung So‐Hyang 
Published: December 2019

AbstractPurposeTo compare corneal astigmatism magnitude, axis, keratometry, and corneal anterior aberrations between the light emitting diode corneal topography analyzer (Cassini) and Scheimpflug Imager (pentacam).MethodsThis prospective study involved 45 eyes of healthy individuals from Seoul St. Mary’s hospital. For each eye, keratometry, astigmatism and its axis of anterior, posterior and total cornea, higher order aberrations were evaluated with a Scheimpflug Imager (Pentacam HR; Oculus, Wetzlar, Germany) and a color‐LED corneal topographer (Cassini; i‐Optics, The Hague, The Netherlands)ResultsAstigmatism magnitude measured using Cassini® and Pentacam® showed no statistically different but anterior and total astigmatic axis were significantly different between two devices (p < 0.05). Anterior and total mean keratometry were statistically significantly different between two devices (p < 0.05) and J0 and J45 vectors of anterior and total cornea were statistically different (p < 0.05). In addition, Cassini® and Pentacam® showed a discrepancy among total corneal astigmatism, total J0 and J45 vectors. Corneal anterior spherical aberration, vertical and horizontal coma, oblique and horizontal trefoil aberrations were not statistically different between 2 devices.ConclusionsAstigmatic axis obtained from the two devices based on different principles showed significantly differences. Astigmatism magnitude was not statistically different but showed a discrepancy between two devices.
Intraocular pressure is influenced by ambient temperature in glaucoma patients
Authors: Krebs Johann Ferdinand , Hosari Sami , Lämmer Robert , Mardin Christian , Hohberger Bettina 
Published: December 2019

AbstractIntroductionGlaucoma is known as multifactorial neurodegenerative disease with intraocular pressure (IOP) as main risk factor. Recent experimental studies showed an impact of corneal temperature on aqueous humour (AH) flow, thus potentially influencing IOP.1 Additionally, temperature was seen to influence fluidity of AH by changing its viscosity.2 As bench to bedside research, the aim of the present study was investigate a potential influence of ambient temperature on IOP in glaucoma patients.MethodsSixty‐four eyes of 64 glaucoma patients (34 male, 30 female) of the Erlangen Glaucoma Registry (NCT00494923; ISSN 2191‐5008, CS‐2011) were included between 11/17 and 08/18. All patients underwent a complete ophthalmological examination including Goldmann applanation tonometry (at 12.00 a.m). Daily local temperature (DT) was recorded. Subgroup analysis was done for a winter group (11/17–03/18; mean age: 63.6±12 years; 17 male, 15 female; mean defect 4.93±5.35 dB) and a summer group (04/2018–08/2018; mean age: 70.2±9.9 years; 17 male, 15 female; mean defect 4.68±5.08 dB).Results(I) Total IOP of all eyes was 13.61±3.8 mmHg. Subgroup analysis yielded a mean IOP of 14.3±3.6 mmHg in the winter group and 11.7±2.7 mmHg in the summer group. (II) Local DT was 13.96±11.1°C (‐6.8 ‐ +32.9°C) during the year. Winter local DT was measured as 3.28±4.8°C (11/17‐03/18). Summer local DT showed a mean of 24.11±3.7°C (04/18 ‐ 08/18). (III) Mean IOP was observed to be significantly higher in patients of the winter group compared to the summer group (p < 0.001).DiscussionExperimental ex‐vivo studies suggested that cooler ambient temperatures ‘cools’ AH via corneal surface, decreasing AH fluidity. Thus, AH circulation is lowered with consecutive increase of IOP. Data of the present clinical study bridge these experimental findings, offering ambient temperature as novel influencing factor on IOP in glaucoma patients.References

Colligris P, Perez de Lara MJ, Colligris B, Pintor J. Ocular Manifestations of Alzheimer’s and Other Neurodegenerative Diseases: The Prospect of the Eye as a Tool for the Early Diagnosis of Alzheimer’s Disease. Journal of ophthalmology 2018;2018:8538573.

Boussommier‐Calleja A, Li G, Wilson A, et al. Physical Factors Affecting Outflow Facility Measurements in Mice. Investigative ophthalmology & visual science 2015;56:8331‐8339.
The role and mechanism of retinal ganglion cell death in glaucomatous injury
Authors: Ali Zara , Mensah Terrance , Felgate Matthew , Watt Robert , Khatib Tasneem Z. , Tribble James R. , Morgan James E. , Martin Keith R. , Osborne Andrew 
Published: December 2019

AbstractPurposeGlaucoma refers to a group of diseases characterised by visual field damage and optic neuropathy. In glaucoma, retinal ganglion cell (RGC) death halts the progression of visual information from the eye to the brain, causing permanent visual loss. Due to their crucial role in the pathophysiology of glaucomatous injury, strategies delaying or preventing RGC death are being increasingly recognised as important to incorporate into novel approaches to glaucoma. However, the successful development of such therapies is reliant upon a comprehensive understanding of the mechanisms underlying RGC dysfunction. This study aims to help elucidate this by examining the difference between RGC layer nuclei counts, inner plexiform layer (IPL) thickness, and TrkB signalling in the retina between control and glaucoma human samples.MethodsNine healthy and eight glaucomatous retinas were obtained from the Mayo Clinic, US. 2‐3mm explants from peripheral and central regions were probed for p‐TrkB via immunohistochemistry. Six images per retinal section were quantified for TrkB signalling using ImageJ. RGC layer nuclei counts and IPL thickness measurements were taken as evidence of glaucomatous damage.ResultsThere was a loss of nuclei in the RGC layer, a decrease in IPL thickness, and loss of p‐TrkB signalling in the peripheral human glaucoma samples compared to controls. These changes correlated with a loss of visual field information. No significant changes were observed in the central retina.ConclusionsOur findings support the observation that patients lose peripheral vision early in glaucoma. This convincingly supports a picture of RGC death disrupting the transmission of visual information from the peripheral retina in glaucoma patients. Reduced TrkB signalling in glaucoma also demonstrates the importance of this signalling pathway in maintaining RGC survival. Investigating ways to restore, or preserve, TrkB phosphorylation may be beneficial in the treatment of glaucoma.