bluuebunny/crossref_metadata_2025_split huggingface dataset:
Retinal neurodegeneration and neuroinflammation in a SOD1 mouse model of ALS
Authors: Rojas Lozano María Pilar , Santoyo Manuel Cadena , Fernández‐Albarral Jose Antonio , López‐Cuenca Inés , Salobrar‐García Elena , Hoz Rosa De , Salazar Juan José , Urcelay‐Segura José Luis , Santos‐García Irene , de Lago Eva , Ramírez José Manuel , Ramírez Ana I. 
Published: January 2022

AbstractPurposeTo determine in a SOD1G93A mouse model (SOD1) of amyotrophic lateral sclerosis (ALS) i) the changes in retinal ganglion cells (RGC) compared to the wild type (WT), and ii) establish whether the microglial activation previously observed in this model corresponds to an M1 or proinflammatory or M2 or anti‐inflammatory microglial phenotype.MethodsIn retinal whole‐mounts of 120‐day‐old animals, from two experimental groups WT (n = 6) and SOD ALS (n = 6), we studied i) the number of RGC with anti‐Brn3a+, and ii) the expression by microglia, labelled with anti‐Iba‐1, of M1 phenotype markers (anti‐IL‐1β and anti‐IFN‐γ) and M2 phenotype markers (anti‐arginase‐I and anti‐IL‐10).ResultsCompared to WT, the retina of SOD1 ALS mice showed: i) a decrease in the number of RGCs, ii) expression by microglia of IFN‐γ and IL‐1β; iii) non‐expression by microglia of IL‐10 and arginase‐I.ConclusionsThese findings demonstrate that in an ALS SOD1model, in an advanced stage of the disease, retinal microglial activation takes place, resulting in a proinflammatory M1 phenotype, which could be related to the loss of RGC. Although ALS is a disease of motor neurons, it can also affect retinal tissue, where a neuroinflammatory and neurodegenerative processes occur.
Child vicious attitude of the head: clinical presentation and etiologies
Authors: Lajmi Houda , El Fekih Lamia , Ben Achour Besma , Hmaied Wassim 
Published: January 2022

AbstractPurposeWe aim to study the clinical presentation and to detail the etiological investigation of Torticollis.MethodsClinical observation of a 7 years old boy, followed in orthopedics for torticollis treated with a neck brace.ResultsOphthalmological examination showed no elevation of the left eye when adducted, severe limitation of the elevation in straight up gaze, and left eye is depressed instead. The interrogation revealed a history of ocular contusion. We evoked a Brown like syndrome and the patient was treated with a latero‐bulbar injection of Triamcinolone in the orbit supero‐internal angle with a good result.ConclusionsTorticollis is a dystonic condition defined by an abnormal and asymmetrical head or neck position. It can occur during certain eye conditions to improve the visual acuity (astigmatism, ptosis, early strabismus, nystagmus) and to maintain binocular vision (alphabetic syndromes, oculomotor palsy, restriction syndromes). Different causes of child vicious attitude of the head were studied in our department, oculo‐orbital diseases are not the only causes. Torticollis is a real syndrome which can be observed in various pathologies (oculo‐orbital, orthopedic, neurological and oto‐rhino‐laryngological) that ophthalmologist must not ignore. child vicious attitude of the head requires an interdisciplinary etiological investigation before any treatment.
Idiopathic intracranial hypertension secondary to iron‐deficiency anaemia
Authors: Murphy Neil , Stewart Stephen , Hrabovsky Monica 
Published: January 2022

AbstractPurposeTo present a case of idiopathic intracranial hypertension (IIH) in a 21‐year‐old female patient in whom iron‐deficiency anaemia was the primary risk factor.MethodsCase report and review of the scientific literature.ResultsA 21‐year‐old female presented to eye casualty with a 3‐day history of intermittent blurring of vision in both eyes. She denied any significant headache. Visual acuity was 6/6 in both eyes, colour vision was normal and there was no RAPD. However, dilated fundal examination revealed bilateral optic disc oedema. A CT scan of brain/orbits demonstrated a partially empty sella and mild vertical tortuosity of the optic nerves. A lumbar puncture was performed and the CSF opening pressure was elevated at 30cmH2O. These findings were consistent with a diagnosis of IIH. The patient lacked common risk factors for IIH: her body mass index was not elevated and she had not previously been prescribed tetracycline antibiotics, hormonal contraceptives or high‐dose vitamin A derivatives. However, she did have a history of excessive consumption of the oral analgesic Nurofen Plus (ibuprofen plus codeine). This had caused profound iron‐deficiency anaemia and her haemoglobin level two weeks prior to this presentation was 71 g/L. A review of the literature found three retrospective studies that examined the role of anaemia in IIH. While one study did not find any statistically significant associated between anaemia and IIH, two found that treating anaemia is associated with a faster recovery and better prognosis in patients with IIH. Correction of anaemia alone can lead to resolution of IIH.ConclusionsIdiopathic intracranial hypertension is a complex condition and the most important neurological manifestation is papilloedema, which may lead to progressive optic atrophy and visual loss. Anaemia appears to be a risk factor for IIH and a full blood count should be included in the routine investigation of these patients.
Long‐term experience of one‐day stereotactic irradiation in patients with uveal melanoma
Authors: Furdova Alena , Sramka Miron , Smolkova Bozena , Furda Robert , Jurenova Denisa , Plesnikova Paulina , Lyskova Darina 
Published: January 2022

AbstractPurposeUveal melanoma (iris, ciliary body, choroid) is the most frequent intraocular malignant tumor in adults. One day session stereotactic radiosurgery (SRS) with 35.0 Gy is one of current treatment options. Radiation complications can lead to visual acuity reduction or secondary enucleation of the eye globe. Radiation‐induced optic neuropathy (RION) is a severe ocular complication developing in high‐risk patients with uveal melanoma after SRS.MethodsLong‐term analysis of 210 patients with intraocular uveal melanoma treated by SRS at linear accelerator LINAC in Slovakia by ‘One‐day session’ method: we analyzed association between the secondary enucleation and the presence of secondary glaucoma as well as the radiation‐induced optic neuropathy after SRS.ResultsThe median tumor volume at baseline was 0.3cm3 with range from 0.1 to 2.7 cm3. The therapeutic dose was 35.0Gy by 99% of DVH (dose volume histogram). Average overall survival after stereotactic irradiation was 1st year after SRS 95%, 2nd year 81%, in 5 years 80%.Secondary enucleation was necessary 17% patients due to secondary glaucoma. The presence of RION was significantly associated with a higher dose on the optic nerve (p = 0.0122 in invariable and 0.0039 in multivariable analysis, respectively). Importantly, the overall survival of patients who underwent secondary enucleation was not different from the survival of patients without enucleation (p = 0.691).ConclusionsSurvival rates at 5‐year interval and percentage of secondary enucleation due to complications after one‐day session linear accelerator irradiation are comparable to those achieved with other irradiation techniques (brachytherapy, proton beam irradiation).
Decreased glucose metabolism and glutamine synthesis in the retina of a transgenic mouse model of Alzheimer’s disease
Authors: Tams Anna Luna Mølgaard , Morello Berta Sanz , Westi Emil Winther , Mouhammad Zaynab Ahmad , Andersen Jens Velde , Freude Kristine Karla , Vohra Rupali , Hannibal Jens , Aldana Blanca Irene , Kolko Miriam 
Published: January 2022

AbstractPurposeVisual changes are some of the earliest symptoms that patients with Alzheimer’s disease (AD) experience1. Pathophysiological processes such as amyloid‐β plaque formation, vascular changes, neuroinflammation, and loss of retinal ganglion cells (RGCs) have been detected in the retina of AD patients and animal models1. However, little is known about the molecular processes that underlie retinal neurodegeneration in AD. The cellular architecture and constant sensory activity of the retina impose high metabolic demands2. We thus hypothesized that energy metabolism might be compromised in the AD retina similarly to what has been observed in the AD brain3.Methods/ ResultsTo address this question, we explored cellular alterations and retinal metabolic activity in the 5xFAD mouse model of AD. We used 8‐months old female 5xFAD mice, in which the AD‐related pathology has been shown to be apparent. We observed that RGC density is selectively affected in the retina of 5xFAD mice. To map retinal metabolic activity, we incubated isolated retinal tissue with [U‐13C]glucose and analyzed tissue extracts by gas chromatography‐mass spectrometry. We found that the retinas of 5xFAD mice exhibit glucose hypometabolism. Moreover, we detected decreased glutamine synthesis in 5xFAD retinas but no changes in the expression of markers of Müller glia, the main glial cell type responsible for glutamate uptake and glutamine synthesis in the retina.ConclusionsThese findings suggest that AD presents with metabolic alterations not only in the brain but also in the retina that may be detrimental to RGC activity and survival, potentially leading to the visual impairments that AD patients suffer.

Chiquita, S. et al. The Retina as a Window or Mirror of the Brain Changes Detected in Alzheimer’s Disease: Critical Aspects to Unravel. Molecular Neurobiology vol. 56 5416–5435 (2019).
Oesch, N. W., Wade Kothmann, W. & Diamond, J. S. Illuminating synapses and circuitry in the retina. Current Opinion in Neurobiology vol. 21 238–244 (2011).
Andersen, J. V. et al. Deficient astrocyte metabolism impairs glutamine synthesis and neurotransmitter homeostasis in a mouse model of Alzheimer’s disease. Neurobiol. Dis. 148, (2021).
Distribution of proteins in the different parts of the schirmer strips
Authors: Arslan Murat Akkurt , Kolman Ioannis , Chardonnet Solenne , Pionneau Cédric , Magny Romain , Baudouin Christophe , Brignole‐Baudouin Françoise , Kessal Karima 
Published: January 2022

AstractPurposeTo analyze and compare protein composition in different parts of the Schirmer strips (called the bulb and the rest of the strip) by using a comprehensive proteomics approach based on highly sensitive trapped ion‐mobility spectrometry coupled quadrupole time‐of‐flight (timsTOF Pro).MethodsSchirmer strips were collected from healthy subjects on 4 different visits over two consecutive days to rationally prepare three groups: 4 whole strips, 4 bulbs and 4 rests of the strips. Each group was extracted in ammonium bicarbonate before analysis with nanoElute UHPLC (ultra‐high‐pressure liquid chromatography) coupled timsTOF Pro. Protein Gene Ontology classification was performed by using Panther. Mass spectrometry data were processed using MaxQuant for protein identification.ResultsThe number of identified proteins increased by 49.6% when the bulbs are separated from the rests of the strips, each group being processed independently. Most of the identified proteins (%50.5) were common in the bulbs and the rests, 26.3% identified only in the bulbs and 23.2% only in the rests. Among all, 1650 proteins were identified from three groups, binding (44%) and catalytic activities (38.3%) constituted the main groups of molecular functions. The cellular (31.3%), metabolic (20.9%), biological regulation processes (13%) formed the main classes in the biological processes of identified proteins. A high number of enzymes (480), formed of hydrolases (47.5%), oxidoreductases (22.1%), transferases (16.7%), ligases (10%), isomerases, (2.1%) and lyases (1.7%) were identified in tear proteome.ConclusionsThe separate study of the bulbs and the rests identified several proteins that are not found in the entire strip alone. Probably, treating bulbs and rests apart allowed to elute more proteins from each part. A decrease in the concentration of abundant tear proteins might have enabled the identification of less abundant ones too. This methodology could improve the pre‐analytical steps before MS analysis. The dataset created can help to model and compare multiple signaling pathways associated with ocular surface pathologies. Moreover, the TimsTOF Pro could also add a technical improvement for the investigation of biomarkers in ocular diseases.
Objectively measured rheological patterns in artificial tears
Authors: Blasco‐Martinez Alejandro , Mateo‐Otobia Antonio , Del‐Prado‐Sanz Eduardo , Blasco‐Alberto Javier 
Published: January 2022

AbstractPurposeTo analyze the rheological behaviours of several artificial tears.MethodsIn vitro viscosity profile of the different artificial tears was obtained. A cone‐plate rotational rheometer was used with ascending and descending shear rate (from 1 s‐1 to 1000 s‐1, 330 measurements) at a constant temperature of 30°C and a fluid volume of 5 ml. The difference between viscosities in each section of shear rate was calculated.ResultsFour different rheological patterns were found in 78 artificial tears: shear‐thinning, shear‐thickening, thixotropic and Newtonian. Thixotropy was found between 0.17 and 104.576 mPas. Shear‐thinning, shear‐thickening and Newtonian behaviours showed a variation in viscosity in the last measurement section between −1.22 and 517 mPas.DiscussionThe viscosity of artificial tears always depends on the shear rate. It is possible to find two patterns simultaneously depending on the shear rate. These rheological patterns could serve to optimize the treatment with lubricants in different conditions of the ocular surface.ConclusionsThe variation of the shear rate conditions the viscous behavior of the fluids. We have defined four possible rheological models in the measured artificial tears. In vivo studies are necessary to evaluate the clinical utility of these findings.Bibliography

Bhushan B. Introduction To Tribology. 2nd ed. New York: John Wiley & Sons, Inc; 2013. 711 p.

Simmons PA, Aragona P, Wang H, Wang T. Physiochemical Properties of Hyaluronic Acid‐based Eye Drops. Montpellier, France; 2016.

Lievens C, Berdy G, Douglass D, Montaquila S, Lin H, Simmons P, et al. Evaluation of an enhanced viscosity artificial tear for moderate to severe dry eye disease: A multicenter, double‐masked, randomized 30‐day study. Contact Lens Anterior Eye. 2019;42(4):443–9.

Pult H, Tosatti SGP, Spencer ND, Asfour JM, Ebenhoch M, Murphy PJ. Spontaneous Blinking from a Tribological Viewpoint. Ocul Surf. 2015;13(3):236–49.
Ocular vascular changes in relatives at high genetic risk for developing Alzheimer’s disease: foveal avascular zone and choroidal thickness
Authors: López‐Cuenca Inés , Salobrar‐Garcia Elena , Alcántara‐Rey Celia , Elvira‐Hurtado Lorena , Fernández‐Albarral José A. , Rojas P. , Isabel Ramirez Ana , Salazar J.J. , Barabash Ana , Manuel Ramirez Jose , de Hoz Rosa 
Published: January 2022

AbstractPurposeAlzheimer’s disease is the most common cause of dementia. In addition to the age,a family history (FH+) of AD and ɛ4 allele of the ApoE gene are the main genetic risk factors for developing the disease. However, ɛ4 allele of ApoE plays a protective role in age‐related macular degeneration. In both pathologies vascular changes have been reported in the retina and the choroid. The aim of this study was analyzed ocular vascular changes in subject with high genetic risks for developing AD.MethodsA complete eye examination was carried out in 184 cognitively healthy subjects. We analyzed the choroidal thickness using optical coherence tomography (OCT) and the foveal avascular zone (FAZ) using OCT‐angiography (OCTA) and compared the results with ApoE gene expression, AD FH+, and the presence or absence of hard drusen (HD).ResultsChoroidal thickness was statistically significantly different (p < 0.05) in the (FH‐, ɛ4‐, HD+) group compared with: (i) both the (FH‐, ɛ4‐, HD‐) and the (FH+, ɛ4+, HD+) groups in the superior and inferior points at 1500 μm, and (ii) the (FH+, ɛ4‐, HD+) group in the superior point at 1500 μm, There were statistically significant differences (p < 0.05) in the superficial FAZ between the (FH+, ɛ4‐, HD+) group and i) the (FH+, ɛ4‐, HD‐) group and ii) the (FH+, ɛ4+, HD‐) group.ConclusionsIn conclusion, ocular vascular changes have not yet been found in participants at genetic risk of developing AD; however, subjects without genetic risk of AD who have HD should be followed for their evolution.
Management and follow‐up of secondary unlikely location of Dexamethasone Implant: between sulcus 3‐pieces IOL and intact posterior capsule
Authors: Youssof David , Gain Philippe , Thuret Gilles , Garcin Thibaud 
Published: January 2022

AbstractPurposeManagement and follow‐up of secondary unlikely location of Dexamethasone Implant: between sulcus 3‐pieces IOL and intact posterior capsule.MethodsA 66‐year‐old man had a traumatism while cutting wood: he consulted 3 days later for severe endophthalmitis. A CT scan excluded any metallic intraocular foreign body (FB). Initial emergency surgery consisted in phacovitrectomy without implantation, bacteriologic and fungal samples, removal of small wood FB, antibiotic & antifungal intravitreal injections. No zonulolysis was present, no capsular tear occurred. Local and systemic treatment allowed good anatomic recovery. At 1.5‐month he developed Irvine‐Gass syndrome (CME).At 2‐months, conditions allowed secondary implantation with a 3‐pieces IOL in the sulcus due to anterior and posterior capsules fusion. As zonule and lens bag were well preserved, we injected intravitreal DI without adverse event (free in the posterior segment). Forty days after DI injection, he consulted in emergency for a hay straw in his left eye. Actually, the DI migrated to the anterior segment, just between sulcus IOL and intact posterior capsule. He had no pain, no redness, normal IOP, 0.2 logMAR far & near vision, and an impression of a paracentral scotoma. He reported repeated heavy loads lifting with head down in his farm, despite postoperative instructions. Medical treatment based on myotics (isotpopilocarpine), continuation of anti‐inflammatory drops, and prophylactic hypotonizing monotherapy drops associated with monthly complete monitoring (slit lamp/OCT/specular microscopy) was decided in first line‐therapy.ResultsSpontaneous disintegration of this ectopic DI took 2 months: CME disappeared completely in 1.5 month; IOL remained stable; no IOP elevation or endothelial damage occurred; vision went to 0.0 logMAR and paracentral scotoma disappeared.ConclusionsThis ectopic migration leading to DI sandwich enables good healing from a CME. Various options could have been chosen: among YAG capsulotomy, emergency surgery and medical treatment. Here, rigorous monitoring with precise iconographic sequences allows to estimate efficacy, safety and time of resorption in this unlikely location. DI injection should be really discussed for every trauma background.
SLC38A8 mutation spectrum in foveal hypoplasia
Authors: Derar Mohammed , Lord Emma C. , Poulter James A. , Webster Andrew R. , Bell Sandra M. , Inglehearn Chris F. , Toomes Carmel 
Published: January 2022

AbstractPurposeSignificant phenotypic overlap exists between ocular albinism and SLC38A8 related foveal hypoplasia (FH) which hinders differential diagnosis. To facilitate molecular testing, we catalogued the spectrum of known pathogenic variants in SLC38A8 responsible for FH.MethodsThe UK 100 000 genomes (100KG) datasets were analysed to detect pathogenic SLC38A8 variants compatible with recessive inheritance in cases with phenotypes reminiscent of FH. Published literature was accessed to capture deleterious variants reported in FH affected families. Additional variants identified locally were incorporated for bioinformatic analysis. Variant interpretation included in‐silico pathogenicity assessment, population data and protein modelling.ResultsIn total, 41 pathogenic variants in SLC38A8 have been identified in 51 FH families; 17 missense, 4 splice site, 2 in‐frame deletions, 6 frameshift, 6 nonsense, 4 large deletions, a multiple exon inversion and a whole gene deletion. Nonsense variants are evenly distributed throughout the gene and protein, while missense variants are more likely to reside in transmembrane domains. 38 SLC38A8 variants were reported in the literature and we have identified 3 novel and 2 known variants in 4 families derived from the 100KG datasets and our local cohort. In one patient, a novel g.84049578_84060679inv (GRCh37) was detected in a homozygous state. Another harboured novel variant c.922_923insTG, p.(Thr308Metfs*14) and c.922A>G, p.(Thr308Ala). Other homozygous variants include c.848A>C, p.(Asp283Ala) and novel variant c.77C>T, p.(Ser26leu). Protein modelling of SLC38A8 predicted a destabilising effect by both p.(Ser26leu) and p.(Thr308Ala). Haplotype analysis of Pakistani, Bangladeshi and Indian patients harbouring c.264C>G, p.(Tyr88*) suggest a South Asian founder effect.ConclusionsWe reviewed and extended the spectrum of SLC38A8 variants causative for FH. The presence of multiple nonsense variants and in‐silico modelling of missense variants suggests a complete loss of function as the likely disease mechanism.
Intraperitoneal administration of lipopolysaccharide (LPS) causes retinal ganglion cell loss in mice
Authors: Tatiana Rodríguez Ramírez Kristy , Vidal‐Sanz Manuel , Agudo‐Barriuso Marta 
Published: January 2022

AbstractPurposeTo analyze the effect of a systemic inflammatory insult induced by LPS administration on retinal ganglion cells and on microglial activation in female and male mice.MethodsFemale and male C57BL/6J mice were treated with a single intraperitoneal injection of LPS (5mg/kg). As control intact animals were used. At 3, 7 and 15 days after LPS administration, retinas were dissected as flat mounts and Iba1 (microglia) and Brn3a (RGCs) immunodetected.ResultsMicroglial activation was observed at 3 days and was qualitatively similar in both sexes. RGC loss was observed at 3 days (p < 0.0001 compared to intact retinas) and was significantly lower in females (13% loss of the original RGC population) than in males (20%). In both sexes, RGC loss progressed until day 7 reaching 28% in females and 34% in males. From 7 to 15 days there was not further loss of RGCs.ConclusionsOne single injection of LPS causes microglial activation and neuronal death that is higher in males than females.