520,961 results on '"genetic structures"'
Search Results
2. The association between the genetic structures of commonly incompatible plasmids in Gram-negative bacteria, their distribution and the resistance genes
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Lei Fang, Ruyan Chen, Chenyu Li, Jingjing Sun, Ruishan Liu, Yanhao Shen, and Xiaobing Guo
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genetic structures ,plasmids ,horizontal gene transfer ,resistance genes ,genetic element ,Microbiology ,QR1-502 - Abstract
Incompatible plasmids play a crucial role in the horizontal transfer of antibiotic resistance in bacteria, particularly in Gram-negative bacteria, and have thus attracted considerable attention in the field of microbiological research. In the 1970s, these plasmids, housing an array of resistance genes and genetic elements, were predominantly discovered. They exhibit a broad presence in diverse host bacteria, showcasing diversity in geographic distribution and the spectrum of antibiotic resistance genes. The complex genetic structure of plasmids further accelerates the accumulation of resistance genes in Gram-negative bacteria. This article offers a comprehensive review encompassing the discovery process, host distribution, geographic prevalence, carried resistance genes, and the genetic structure of different types incompatible plasmids, including IncA, IncC, IncF, IncL, IncM, IncH, and IncP. It serves as a valuable reference for enhancing our understanding of the role of these different types of plasmids in bacterial evolution and the dissemination of antibiotic resistance.
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- 2024
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3. Targeted and whole-genome sequencing reveal a north-south divide in P. falciparum drug resistance markers and genetic structure in Mozambique.
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da Silva, Clemente, Boene, Simone, Datta, Debayan, Rovira-Vallbona, Eduard, Aranda-Díaz, Andrés, Cisteró, Pau, Hathaway, Nicholas, Tessema, Sofonias, Chidimatembue, Arlindo, Matambisso, Glória, Nhama, Abel, Macete, Eusebio, Pujol, Arnau, Nhamussua, Lidia, Galatas, Beatriz, Guinovart, Caterina, Enosse, Sónia, De Carvalho, Eva, Rogier, Eric, Plucinski, Mateusz M, Colborn, James, Zulliger, Rose, Saifodine, Abuchahama, Alonso, Pedro L, Candrinho, Baltazar, Greenhouse, Bryan, Aide, Pedro, Saute, Francisco, and Mayor, Alfredo
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Humans ,Plasmodium falciparum ,Malaria ,Malaria ,Falciparum ,Antimalarials ,Drug Resistance ,Genetic Structures ,Mozambique ,Whole Genome Sequencing ,Genetics ,Vector-Borne Diseases ,Rare Diseases ,Infectious Diseases ,Human Genome ,Aetiology ,2.2 Factors relating to the physical environment ,Infection ,Good Health and Well Being - Abstract
Mozambique is one of the four African countries which account for over half of all malaria deaths worldwide, yet little is known about the parasite genetic structure in that country. We performed P. falciparum amplicon and whole genome sequencing on 2251 malaria-infected blood samples collected in 2015 and 2018 in seven provinces of Mozambique to genotype antimalarial resistance markers and interrogate parasite population structure using genome-wide microhaplotyes. Here we show that the only resistance-associated markers observed at frequencies above 5% were pfmdr1-184F (59%), pfdhfr-51I/59 R/108 N (99%) and pfdhps-437G/540E (89%). The frequency of pfdhfr/pfdhps quintuple mutants associated with sulfadoxine-pyrimethamine resistance increased from 80% in 2015 to 89% in 2018 (p
- Published
- 2023
4. Inferring genetic structure when there is little: population genetics versus genomics of the threatened bat Miniopterus schreibersii across Europe
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Dufresnes, Christophe, Dutoit, Ludovic, Brelsford, Alan, Goldstein-Witsenburg, Fardo, Clément, Laura, López-Baucells, Adria, Palmeirim, Jorge, Pavlinić, Igor, Scaravelli, Dino, Ševčík, Martin, Christe, Philippe, and Goudet, Jérôme
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Biological Sciences ,Ecology ,Genetics ,Human Genome ,Biotechnology ,Animals ,Chiroptera ,Genetics ,Population ,Europe ,Genomics ,Genetic Structures ,Genetic Variation ,Microsatellite Repeats - Abstract
Despite their paramount importance in molecular ecology and conservation, genetic diversity and structure remain challenging to quantify with traditional genotyping methods. Next-generation sequencing holds great promises, but this has not been properly tested in highly mobile species. In this article, we compared microsatellite and RAD-sequencing (RAD-seq) analyses to investigate population structure in the declining bent-winged bat (Miniopterus schreibersii) across Europe. Both markers retrieved general patterns of weak range-wide differentiation, little sex-biased dispersal, and strong isolation by distance that associated with significant genetic structure between the three Mediterranean Peninsulas, which could have acted as glacial refugia. Microsatellites proved uninformative in individual-based analyses, but the resolution offered by genomic SNPs illuminated on regional substructures within several countries, with colonies sharing migrators of distinct ancestry without admixture. This finding is consistent with a marked philopatry and spatial partitioning between mating and rearing grounds in the species, which was suspected from marked-recaptured data. Our study advocates that genomic data are necessary to properly unveil the genetic footprints left by biogeographic processes and social organization in long-distant flyers, which are otherwise rapidly blurred by their high levels of gene flow.
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- 2023
5. Genome-wide SNPs reveal novel patterns of spatial genetic structure in Aedes albopictus (Diptera Culicidae) population in China
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Wei, Yong, He, Song, Wang, Jiatian, Fan, Peiyang, He, Yulan, Hu, Ke, Chen, Yulan, Zhou, Guofa, Zhong, Daibin, and Zheng, Xueli
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Health Services and Systems ,Public Health ,Health Sciences ,Human Genome ,Genetics ,Prevention ,Infectious Diseases ,Vector-Borne Diseases ,Biotechnology ,Emerging Infectious Diseases ,Good Health and Well Being ,Animals ,Female ,Aedes ,Polymorphism ,Single Nucleotide ,Mosquito Vectors ,Genetic Variation ,China ,Genetic Structures ,invasive species ,restriction site-associated DNA sequencing ,genetic diversity ,gene pool ,isolation by distance ,Public Health and Health Services ,Health services and systems ,Public health - Abstract
IntroductionSince the second half of the 20th century, Aedes albopictus, a vector for more than 20 arboviruses, has spread worldwide. Aedes albopictus is the main vector of infectious diseases transmitted by Aedes mosquitoes in China, and it has caused concerns regarding public health. A comprehensive understanding of the spatial genetic structure of this vector species at a genomic level is essential for effective vector control and the prevention of vector-borne diseases.MethodsDuring 2016-2018, adult female Ae. albopictus mosquitoes were collected from eight different geographical locations across China. Restriction site-associated DNA sequencing (RAD-seq) was used for high-throughput identification of single nucleotide polymorphisms (SNPs) and genotyping of the Ae. albopictus population. The spatial genetic structure was analyzed and compared to those exhibited by mitochondrial cytochrome c oxidase subunit 1 (cox1) and microsatellites in the Ae. albopictus population.ResultsA total of 9,103 genome-wide SNP loci in 101 specimens and 32 haplotypes of cox1 in 231 specimens were identified in the samples from eight locations in China. Principal component analysis revealed that samples from Lingshui and Zhanjiang were more genetically different than those from the other locations. The SNPs provided a better resolution and stronger signals for novel spatial population genetic structures than those from the cox1 data and a set of previously genotyped microsatellites. The fixation indexes from the SNP dataset showed shallow but significant genetic differentiation in the population. The Mantel test indicated a positive correlation between genetic distance and geographical distance. However, the asymmetric gene flow was detected among the populations, and it was higher from south to north and west to east than in the opposite directions.ConclusionsThe genome-wide SNPs revealed seven gene pools and fine spatial genetic structure of the Ae. albopictus population in China. The RAD-seq approach has great potential to increase our understanding of the spatial dynamics of population spread and establishment, which will help us to design new strategies for controlling vectors and mosquito-borne diseases.
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- 2022
6. Cryptic genetic structure and copy‐number variation in the ubiquitous forest symbiotic fungus Cenococcum geophilum
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Dauphin, Benjamin, Pereira, Maíra Freitas, Kohler, Annegret, Grigoriev, Igor V, Barry, Kerrie, Na, Hyunsoo, Amirebrahimi, Mojgan, Lipzen, Anna, Martin, Francis, Peter, Martina, and Croll, Daniel
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Genetics ,Biotechnology ,Human Genome ,Ascomycota ,Ecosystem ,Forests ,Genetic Structures ,Genetic Variation ,Mycorrhizae ,Phylogeny ,Symbiosis ,Evolutionary Biology ,Microbiology - Abstract
Ectomycorrhizal (ECM) fungi associated with plants constitute one of the most successful symbiotic interactions in forest ecosystems. ECM support trophic exchanges with host plants and are important factors for the survival and stress resilience of trees. However, ECM clades often harbour morpho-species and cryptic lineages, with weak morphological differentiation. How this relates to intraspecific genome variability and ecological functioning is poorly known. Here, we analysed 16 European isolates of the ascomycete Cenococcum geophilum, an extremely ubiquitous forest symbiotic fungus with no known sexual or asexual spore-forming structures but with a massively enlarged genome. We carried out whole-genome sequencing to identify single-nucleotide polymorphisms. We found no geographic structure at the European scale but divergent lineages within sampling sites. Evidence for recombination was restricted to specific cryptic lineages. Lineage differentiation was supported by extensive copy-number variation. Finally, we confirmed heterothallism with a single MAT1 idiomorph per genome. Synteny analyses of the MAT1 locus revealed substantial rearrangements and a pseudogene of the opposite MAT1 idiomorph. Our study provides the first evidence for substantial genome-wide structural variation, lineage-specific recombination and low continent-wide genetic differentiation in C. geophilum. Our study provides a foundation for targeted analyses of intra-specific functional variation in this major symbiosis.
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- 2021
7. The Latent Genetic Structure of Impulsivity and Its Relation to Internalizing Psychopathology
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Gustavson, Daniel E, Friedman, Naomi P, Fontanillas, Pierre, Elson, Sarah L, Team, the 23andMe Research, Palmer, Abraham A, and Sanchez-Roige, Sandra
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Psychology ,Social and Personality Psychology ,Applied and Developmental Psychology ,Genetics ,Human Genome ,Brain Disorders ,Defense Mechanisms ,Delay Discounting ,Factor Analysis ,Statistical ,Female ,Genetic Structures ,Genome-Wide Association Study ,Humans ,Impulsive Behavior ,Male ,Personality ,Psychopathology ,heritability ,genomic structural equation modeling ,self-control ,UPPS-P Impulsive Behavior Scale ,Barratt Impulsiveness Scale ,open data ,open materials ,23andMe Research Team ,Cognitive Sciences ,Experimental Psychology - Abstract
Factor analyses suggest that impulsivity traits that capture tendencies to act prematurely or take risks tap partially distinct constructs. We applied genomic structure equation modeling to evaluate the genetic factor structure of two well-established impulsivity questionnaires, using published statistics from genome-wide association studies of up to 22,861 participants. We also tested the hypotheses that delay discounting would be genetically separable from other impulsivity factors and that emotionally triggered facets of impulsivity (urgency) would be those most strongly genetically correlated with an internalizing latent factor. A five-factor model best fitted the impulsivity data. Delay discounting was genetically distinct from these five factors. As expected, the two urgency subscales were most strongly related to an internalizing-psychopathology latent factor. These findings provide empirical genetic evidence that impulsivity can be broken down into distinct categories of differential relevance for internalizing psychopathology. They also demonstrate how measured genetic markers can be used to inform theories of psychology and personality.
- Published
- 2020
8. Small-angle polarimetry as a technique for identification of nucleotide sequences in bioinformatics
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Zimnyakov, Dmitry Aleksandrovich, Alonova, Marina Vasil'evna, Skripal, Anatoly Vladimirovich, Dobdin, Sergey Yur'evich, and Feodorova, Valentina Anatol'evna
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genetic structures ,nucleotide sequences ,phase coding ,small-angle polarimetry ,components of the stokes vector ,Physics ,QC1-999 - Abstract
Background and Objectives: The method of identification of symbolic sequences associated with the genetic structure of biological objects using the principles of small-angle polarimetry is considered. This method of analyzing and visualizing symbolic sequences obtained by sequencing DNA fragments can be defined as small-angle polarimetry of phase-modulating structures associated with genetic information. Materials and Methods: The analyzed symbolic sequence is represented by a two-dimensional phase-modulating matrix, each element of which corresponds to one of the four basic nucleotides (adenine, cytosine, thymine, guanine), and the depth of modulation of the phase of the reading coherent linearly polarized beam is determined by the content of this nucleotide in the corresponding triplet in the nucleotide sequence. As a result of the diffraction of a reading coherent beam with a polarization plane oriented at an angle of 45° to the sides of the phase-modulating matrix, a spatial distribution of local polarization states of the reading field diffracted on the matrix is formed in the paraxial region of the far diffraction zone. Discrimination of local polarization states in accordance with the proposed algorithm makes it possible to synthesize a binary spatial distribution, which is a unique identifier of the analyzed symbol sequence. Results: Modeling of the processes of phase coding and subsequent analysis of local polarization states in the near-axial region using sequencing results for the strains “Wuhan”, “Delta” and “Omicron” of the SARS-CoV-2 virus has shown a high sensitivity of the method to local changes in the structure of nucleotide sequences. Conclusion: The results of the simulation allow us to conclude that binary distributions of local polarization states of light fields diffracted on DNA-associated phase-modulating structures recorded in the axial region are characterized by high sensitivity to local mutational changes in the structure of nucleotide sequences. The results obtained can be used as a basis for creating effective hybrid methods for analyzing genetic information using the principles of polarization coding and small-angle polarimetry.
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- 2023
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9. Genetic and Epigenetic Basis of Development and Disease
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Kaub, Peter A., Barnett, Christopher P., Khong, T. Yee, editor, and Malcomson, Roger D. G., editor
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- 2022
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10. Low Genetic Diversity of Vector-Borne Haemoparasites in Dogs and Their Ticks Revealed Local and Long-Range Transmission in Peninsular Malaysia.
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Sipin, Quincie, Mustaffa-Kamal, Farina, Watanabe, Malaika, Abdul Rani, Puteri Azaziah Megat, and Aziz, Nor Azlina Abdul
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BABESIA , *GENETIC variation , *DOGS , *TICKS , *CANIS , *HAPLOTYPES , *ANAPLASMA , *EHRLICHIA - Abstract
Molecular methods coupled with phylogenetic analysis are sensitive tools for detecting and classifying parasites. This study used nuclear and mitochondrial gene markers to investigate the host-vector interaction of the vector-borne haemoparasites. The population genetic structures of important vector-borne haemoparasites in dogs, namely, Anaplasma platys, Ehrlichia canis, Babesia vogeli, and Babesia gibsoni, were determined from the nuclear gene of 16S or 18S rRNA gene, gltA and groESL and mitochondrial gene of COX1 across dogs and vector ticks. A total of 220 blood samples and 140 ticks were collected from shelter dogs in Peninsular Malaysia. Out of the positive samples for the vector-borne haemoparasites, 28 positive blood isolates and six tick isolates were selected and characterised. There was a low diversity in tick sequences, while varying degree of variability was observed in dogs' sequences. Overlapped haplotypes were observed in sequences of dogs and ticks, revealing the possibility of the same infection origin. No regional separation was detected, but similar haplotypes from different regions were observed. These findings contribute to the epidemiology of vector-borne haemoparasites in dogs in Malaysia. [ABSTRACT FROM AUTHOR]
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- 2023
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11. Long-distance dispersal, ice sheet dynamics and mountaintop isolation underlie the genetic structure of glacier ice worms.
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Hotaling, Scott, Shain, Daniel H, Lang, Shirley A, Bagley, Robin K, Tronstad, Lusha M, Weisrock, David W, and Kelley, Joanna L
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Biological Sciences ,Ecology ,Evolutionary Biology ,Genetics ,Alaska ,Animals ,Biological Evolution ,Ecosystem ,Genetic Structures ,Genetic Variation ,Ice Cover ,Oligochaeta ,Oregon ,Phylogeny ,Phylogeography ,restriction-site-associated DNA sequencing ,Pacific Northwest ,phylogeography ,Mesenchytraeus solifugus ,global change biology ,annelid ,Agricultural and Veterinary Sciences ,Medical and Health Sciences ,Agricultural ,veterinary and food sciences ,Biological sciences ,Environmental sciences - Abstract
Disentangling the contemporary and historical factors underlying the spatial distributions of species is a central goal of biogeography. For species with broad distributions but little capacity to actively disperse, disconnected geographical distributions highlight the potential influence of passive, long-distance dispersal (LDD) on their evolutionary histories. However, dispersal alone cannot completely account for the biogeography of any species, and other factors-e.g. habitat suitability, life history-must also be considered. North American ice worms ( Mesenchytraeus solifugus) are ice-obligate annelids that inhabit coastal glaciers from Oregon to Alaska. Previous studies identified a complex biogeographic history for ice worms, with evidence for genetic isolation, unexpectedly close relationships among geographically disjunct lineages, and contemporary migration across large (e.g. greater than 1500 km) areas of unsuitable habitat. In this study, we analysed genome-scale sequence data for individuals from most of the known ice worm range. We found clear support for divergence between populations along the Pacific Coast and the inland flanks of the Coast Mountains (mean FST = 0.60), likely precipitated by episodic ice sheet expansion and contraction during the Pleistocene. We also found support for LDD of ice worms from Alaska to Vancouver Island, perhaps mediated by migrating birds. Our results highlight the power of genomic data for disentangling complex biogeographic patterns, including the presence of LDD.
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- 2019
12. Population Group Abortion Rates and Lifetime Incidence of Abortion: United States, 2008-2014
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Rachel K. Jones and Jenna Jerman
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Adult ,medicine.medical_specialty ,Adolescent ,genetic structures ,Population ,Ethnic group ,Abortion ,AJPH Research ,Health Services Accessibility ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Age Distribution ,Population Groups ,Pregnancy ,medicine ,Ethnicity ,Prevalence ,Humans ,030212 general & internal medicine ,education ,skin and connective tissue diseases ,reproductive and urinary physiology ,education.field_of_study ,030219 obstetrics & reproductive medicine ,Marital Status ,business.industry ,Public health ,Incidence (epidemiology) ,Incidence ,Racial Groups ,Public Health, Environmental and Occupational Health ,Abortion, Induced ,medicine.disease ,United States ,National Survey of Family Growth ,embryonic structures ,Abortion, Legal ,Income ,Marital status ,Educational Status ,Female ,sense organs ,business ,Demography - Abstract
To assess the prevalence of abortion among population groups and changes in rates between 2008 and 2014.We used secondary data from the Abortion Patient Survey, the American Community Survey, and the National Survey of Family Growth to estimate abortion rates. We used information from the Abortion Patient Survey to estimate the lifetime incidence of abortion.Between 2008 and 2014, the abortion rate declined 25%, from 19.4 to 14.6 per 1000 women aged 15 to 44 years. The abortion rate for adolescents aged 15 to 19 years declined 46%, the largest of any group. Abortion rates declined for all racial and ethnic groups but were larger for non-White women than for non-Hispanic White women. Although the abortion rate decreased 26% for women with incomes less than 100% of the federal poverty level, this population had the highest abortion rate of all the groups examined: 36.6. If the 2014 age-specific abortion rates prevail, 24% of women aged 15 to 44 years in that year will have an abortion by age 45 years.The decline in abortion was not uniform across all population groups.
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- 2024
13. A tRNA Modification Pattern That Facilitates Interpretation of the Genetic Code
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Masuda, Isao, Hou, Ya-Ming, Masuda, Isao, and Hou, Ya-Ming
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Interpretation of the genetic code from triplets of nucleotides to amino acids is fundamental to life. This interpretation is achieved by cellular tRNAs, each reading a triplet codon through its complementary anticodon (positions 34–36) while delivering the amino acid charged to its 3′-end. This amino acid is then incorporated into the growing polypeptide chain during protein synthesis on the ribosome. The quality and versatility of the interpretation is ensured not only by the codon-anticodon pairing, but also by the post-transcriptional modifications at positions 34 and 37 of each tRNA, corresponding to the wobble nucleotide at the first position of the anticodon and the nucleotide on the 3′-side of the anticodon, respectively. How each codon is read by the matching anticodon, and which modifications are required, cannot be readily predicted from the codon-anticodon pairing alone. Here we provide an easily accessible modification pattern that is integrated into the genetic code table. We focus on the Gram-negative bacterium Escherichia coli as a model, which is one of the few organisms whose entire set of tRNA modifications and modification genes is identified and mapped. This work provides an important reference tool that will facilitate research in protein synthesis, which is at the core of the cellular life.
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- 2024
14. Complex patterns of genetic structure in the sea cucumber Holothuria (Metriatyla) scabra from the Philippines: implications for aquaculture and fishery management
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Lal, Monal, Macahig, Deo A. S., Juinio-Meñez, Marie Antonette, Altamirano, Jon, Noran-Baylon, Roselyn D., de la Torre-de la Cruz, Margarita, Villamor, Janine L., Gacura, Jonh Rey, Uy, Wilfredo, Mira-Honghong, Hanzel, Southgate, Paul C., Ravago-Gotanco, Rachel June, Lal, Monal, Macahig, Deo A. S., Juinio-Meñez, Marie Antonette, Altamirano, Jon, Noran-Baylon, Roselyn D., de la Torre-de la Cruz, Margarita, Villamor, Janine L., Gacura, Jonh Rey, Uy, Wilfredo, Mira-Honghong, Hanzel, Southgate, Paul C., and Ravago-Gotanco, Rachel June
- Abstract
The sandfish Holothuria (Metriatyla) scabra, is a high-value tropical sea cucumber harvested from wild stocks for over four centuries in multi-species fisheries across its Indo-Pacific distribution, for the global bêche-de-mer (BDM) trade. Within Southeast Asia, the Philippines is an important centre of the BDM trade, however overharvesting and largely open fishery management have resulted in declining catch volumes. Sandfish mariculture has been developed to supplement BDM supply and assist restocking efforts; however, it is heavily reliant on wild populations for broodstock supply. Consequently, to inform fishery, mariculture, germplasm and translocation management policies for both wild and captive resources, a high-resolution genomic audit of 16 wild sandfish populations was conducted, employing a proven genotyping-by-sequencing approach for this species (DArTseq). Genomic data (8,266 selectively-neutral and 117 putatively-adaptive SNPs) were used to assess fine-scale genetic structure, diversity, relatedness, population connectivity and local adaptation at both broad (biogeographic region) and local (within-biogeographic region) scales. An independent hydrodynamic particle dispersal model was also used to assess population connectivity. The overall pattern of population differentiation at the country level for H. scabra in the Philippines is complex, with nine genetic stocks and respective management units delineated across 5 biogeographic regions: (1) Celebes Sea, (2) North and (3) South Philippine Seas, (4) South China and Internal Seas and (5) Sulu Sea. Genetic connectivity is highest within proximate marine biogeographic regions (mean Fst=0.016), with greater separation evident between geographically distant sites (Fst range=0.041–0.045). Signatures of local adaptation were detected among six biogeographic regions, with genetic bottlenecks at 5 sites, particularly within historically heavily-exploited locati
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- 2024
15. Contact Lens Wear Alters Transcriptional Responses to Pseudomonas aeruginosa in Both the Corneal Epithelium and the Bacteria.
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- 2024
16. New Findings in Personalized Medicine Described from University of Tours (Deciphering autism heterogeneity: a molecular stratification approach in four mouse models).
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AUTISM spectrum disorders ,DEVELOPMENTAL disabilities ,GENE families ,MEDICAL research ,VIRAL genes - Abstract
The University of Tours conducted research on personalized medicine in autism spectrum disorder (ASD), focusing on molecular markers within the oxytocin and immediate early gene families in mouse models. The study identified Egr1, Foxp1, Homer1a, Oxt, and Oxtr as robust markers for stratifying the models, showing potential for predicting responses to oxytocin treatment. This research aims to improve clinical trials and develop personalized medicine for individuals with ASD. [Extracted from the article]
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- 2024
17. HEXIM1 is correlated with Alzheimer's disease pathology and regulates immediate early gene dynamics in neurons.
- Abstract
A recent preprint abstract suggests that the protein HEXIM1 may be correlated with Alzheimer's disease pathology and may play a role in regulating gene transcription in neurons. The study found that the expression of HEXIM1 mRNA in neurons is highly correlated with Alzheimer's disease pathologies. Additionally, the regulation of gene transcription by HEXIM1 may have a significant impact on the rapid induction of neuronal gene transcription. However, it is important to note that this preprint has not yet undergone peer review. [Extracted from the article]
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- 2024
18. Comparative Biology of Vertebrate Retinal Regeneration: Restoration of Vision through Cellular Reprogramming
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Thomas A. Reh and Levi Todd
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Mammals ,Retina ,genetic structures ,Regeneration (biology) ,Mammalian retina ,Vertebrate ,Comparative biology ,Biology ,Cellular Reprogramming ,eye diseases ,General Biochemistry, Genetics and Molecular Biology ,Nerve Regeneration ,medicine.anatomical_structure ,biology.animal ,Vertebrates ,medicine ,Animals ,sense organs ,Neuroscience ,Reprogramming ,Vertebrate retina ,Retinal regeneration - Abstract
The regenerative capacity of the vertebrate retina varies substantially across species. Whereas fish and amphibians can regenerate functional retina, mammals do not. In this perspective piece, we outline the various strategies nonmammalian vertebrates use to achieve functional regeneration of vision. We review key differences underlying the regenerative potential across species including the cellular source of postnatal progenitors, the diversity of cell fates regenerated, and the level of functional vision that can be achieved. Finally, we provide an outlook on the field of engineering the mammalian retina to replace neurons lost to injury or disease.
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- 2024
19. Mucus fishing syndrome
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Ryan L. J. Chiew, Denise T. M. Au Eong, Kah Guan Au Eong, Lee Kong Chian School of Medicine (LKCMedicine), International Eye Cataract Retina Centre, Farrer Park Medical Centre, and Teck Puat Hospital
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Male ,genetic structures ,Eye Diseases ,General Practice ,General Medicine ,Syndrome ,Eye ,Conjunctivitis ,eye diseases ,Mucus ,Humans ,Hunting ,Medicine [Science] ,sense organs ,Conjunctiva - Abstract
Mucus fishing syndrome is a chronic inflammatory ocular surface condition characterised by repetitive self-extraction of mucous strands from the eye.A man in his 30s presented with bilateral ocular redness, itch, irritation, tearing and sticky mucoid discharge for 3 months. Examination disclosed bilateral bulbar and tarsal conjunctival injection. Fluorescein staining disclosed a well-circumscribed area of tarsal conjunctival epithelial defect near the inferior lacrimal punctum in both eyes. The patient admitted to a habit of mechanically removing mucus from his eyes several times a day. Demonstration of the mucus extraction process disclosed direct contact of his fingers with the excoriated tarsal conjunctiva in each eye. He was diagnosed with mucus fishing syndrome and his condition resolved within a month after he stopped fishing mucus from his eyes and had a course of topical antibiotics and steroids.Mucus fishing syndrome is an important diagnostic consideration in patients with chronic conjunctivitis.
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- 2024
20. Neovascular glaucoma following Nd:YAG laser capsulotomy: a rare complication in a postvitrectomised patient with diabetes
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Santosh Gopi Krishna Gadde, Akhila Sridharan, Nikitha Gurram Reddy, and Chaitra Jayadev
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Glaucoma, Neovascular ,Male ,Diabetic Retinopathy ,Postoperative Complications ,genetic structures ,Diabetes Mellitus ,Humans ,sense organs ,General Medicine ,Laser Therapy ,Lasers, Solid-State ,Capsule Opacification ,eye diseases - Abstract
To describe a case of acute-onset neovascular glaucoma (NVG) after a neodymium:yttrium-aluminium-garnet (Nd:YAG) capsulotomy in a diabetic vitrectomized eye of a patient with severe systemic and ocular comorbidities. A man in his 50s underwent a Nd:YAG capsulotomy for visually significant posterior capsular opacification with a previous history of vitrectomy with silicone oil in situ for diabetic retinopathy. He had systemic and ocular comorbidities implicating an advanced ischaemic status, both systemically and locally. Five days post Nd:YAG capsulotomy, extensive neovascularisation of the iris and angles was noted. Despite maximum antiglaucoma medication, an evisceration ensued due to intractable NVG. This case report highlights the importance of irreversible complications after a seemingly simple capsulotomy in eyes with advanced ocular conditions and systemic comorbidities necessitating extreme caution.
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- 2024
21. Deep blue dot corneal degeneration: a rare corneal degeneration
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Sohini Mandal, Pranita Sahay, Ritu Nagpal, and Prafulla Kumar Maharana
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Cornea ,Corneal Dystrophies, Hereditary ,genetic structures ,Corneal Stroma ,Humans ,Female ,sense organs ,General Medicine ,Middle Aged ,eye diseases - Abstract
A female patient in the age group 55–60 years presented to us with blurring of vision in both eyes. On slit-lamp examination, numerous circular to oval fleck-like discrete blue opacities at the level of deep corneal stroma and Descemet’s membrane was observed. These lesions were predominantly seen in the central two-thirds of the cornea. Considering the age of presentation and the clinical features, the probable diagnosis of ‘deep blue dot corneal degeneration’ was made.
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- 2024
22. Matching anti-forcing polynomials of catacondensed hexagonal systems
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Zhao, Shuang
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genetic structures ,Applied Mathematics ,FOS: Mathematics ,Mathematics - Combinatorics ,Discrete Mathematics and Combinatorics ,Combinatorics (math.CO) ,Nonlinear Sciences::Pattern Formation and Solitons - Abstract
In this paper, we derive a recurrence relation of anti-forcing polynomial for catacondensed hexagonal systems.
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- 2023
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23. Qassim University Reports Findings in Bacterial Infections and Mycoses [Comprehensive analysis of microbiome biodiversity in popular date palm (Phoenix dactylifera L.) fruit varieties].
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BACTERIAL genetics ,BACTERIAL diseases ,DATE palm ,BACTERIAL genes ,MICROBIAL contamination - Abstract
A report from Qassim University in Saudi Arabia discusses the microbial contamination of date palm fruits, which are widely consumed in Middle Eastern and African countries. The study analyzed ten popular date varieties and found a range of fungal and bacterial species present. Some of the bacterial genera identified are potential human pathogens, while one fungal species is known to cause allergies and human fungal infections. This study provides a comprehensive account of the microbial biodiversity associated with date palm fruits. [Extracted from the article]
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- 2024
24. Dual host-bacterial gene expression to study pathogenesis and the regulation of virulence factors in tissue during respiratory infections.
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- 2024
25. Reports from University Medical School Advance Knowledge in Neuro-Psychopharmacology (Perinatal Stress Modulates Glutamatergic Functional Connectivity: a Post-synaptic Density Immediate Early Gene-based Network Analysis).
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- 2024
26. Serial ERG monitoring of response to therapy in vitamin A deficiency related night blindness
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B Poornachandra, Chaitra Jayadev, Shama Sharief, and Rohit Shetty
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Male ,genetic structures ,Night Blindness ,Vitamin A Deficiency ,Electroretinography ,Humans ,sense organs ,General Medicine ,Vitamin A - Abstract
Two male patients with known systemic disorders who presented with complaints of nyctalopia underwent a complete ophthalmic examination including electrophysiological evaluation and serum vitamin A (retinol) levels. A significant vitamin A deficiency was detected, supplementation started and repeat electroretinogram (ERG) testing was carried out to monitor the timeline of recovery. Restoration of rod and generalised cone function was rapid within the first week of receiving treatment and near normal recovery was seen after 1 month of supplementation. Serial monitoring of ERG changes in vitamin A deficiency (VAD) associated night blindness plays an important role to demonstrate functional recovery post-treatment. The different effects of VAD on rod and cone function, and their rate of recovery, may reflect differences in the visual cycle between the two photoreceptors. We report the serial ERG changes in VAD related night blindness secondary to intestinal lipofuscinosis and liver cirrhosis in two patients.
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- 2024
27. Suprasellar paraganglioma in a clinical setting of von Hippel-Lindau syndrome
- Author
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Shamika Ghaisas, Kavitha Shekar Rao, Archana Preethi, and Padmaja Kumari Rani
- Subjects
Male ,Paraganglioma ,von Hippel-Lindau Disease ,genetic structures ,Retinal Neoplasms ,Humans ,General Medicine ,eye diseases ,Retina ,Hemangioblastoma - Abstract
A man in his 20s presented to the neurosurgery department 2 years ago with headache and blurred vision. He was diagnosed to have a suprasellar mass on neuroimaging. Best-corrected visual acuity in the right eye was 6/36 and that in the left eye was 6/60. Automated visual fields showed a temporal hemianopia in the right eye and an advanced field defect in the left eye. His hormonal profile was normal, and he underwent partial excision of suprasellar tumour, which was a histopathologically proven paraganglioma (PGL). Subsequently, the patient underwent radiotherapy and his vision and visual fields showed improvement. Follow-up examination 3 years later showed a left retinal capillary hemangioblastoma (RCH), which was treated with green laser photocoagulation, resulting in complete sclerosis. This case is unique because of the extremely rare coexistence of a sellar PGL and RCH, which to our knowledge has not been reported so far.
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- 2024
28. Visual hallucinations following electroconvulsive therapy for major depressive disorder
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Hayden P Nix, Rookaya Mather, Richard O'Reilly, and Akshya Vasudev
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Depressive Disorder, Major ,genetic structures ,Hallucinations ,Humans ,Female ,General Medicine ,Electroconvulsive Therapy ,Combined Modality Therapy ,Aged - Abstract
A female geriatric patient with major depressive disorder, current episode severe, received eight right unilateral electroconvulsive therapy (ECT) treatments over the course of 3 weeks. After her third treatment, she began experiencing brief visual hallucinations, each lasting less than 5 s, consisting of dark to grey coloured, poorly defined geometric shapes and objects. These episodes occurred only during the day with no change in consciousness. With each additional treatment, the episodes increased in frequency, reaching a crescendo of approximately 20 episodes per day. After terminating ECT, the frequency of these episodes decreased and then ceased 6 weeks later. Neuroimaging and ophthalmological investigations discounted a space occupying lesion or vision loss. This case demonstrates a close temporal relationship between ECT and new onset visual hallucinations. Clinicians should be aware of the possibility that elderly depressed patients may develop visual hallucinations during a course of ECT.
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- 2024
29. Management of a recurrent encapsulated bleb with a cost-effective non-valved glaucoma drainage device
- Author
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George Varghese Puthuran, Hiruni Kaushalya Wijesinghe, Mayank Jain, and Paul Palmberg
- Subjects
Male ,genetic structures ,Adolescent ,Cost-Benefit Analysis ,Visual Acuity ,India ,General Medicine ,eye diseases ,Blister ,Treatment Outcome ,Humans ,sense organs ,Child ,Glaucoma Drainage Implants ,Follow-Up Studies - Abstract
Despite the advancements in the surgical management of glaucoma, childhood glaucoma remains a challenging surgical disease worldwide. An early adolescent boy with primary congenital glaucoma, status after glaucoma drainage device (GDD) implantation, on maximum medical therapy, was presented with a swelling in the superotemporal orbital region. The patient had undergone an uneventful GDD implantation 2 years prior to presentation. A similar swelling, which was diagnosed to be a Tenon’s cyst, had been excised on three earlier occasions. Given that the repeat capsular excision would also have the same likelihood of failure, and poor intraocular pressure control, a non-valved, cost-effective Aurolab aqueous drainage implant (AADI, Aurolab, Madurai, India) implantation was done inferonasally. In this patient, AADI proved to be a safe and effective alternative for the known GDDs.
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- 2024
30. Central and bullous Descemet membrane detachment during cataract wound hydration: an insightful complication in a post-DALK eye
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Amit Kumar Das, Arnav Panigrahi, and Noopur Gupta
- Subjects
Corneal Transplantation ,Male ,Phacoemulsification ,genetic structures ,Humans ,sense organs ,General Medicine ,Cataract Extraction ,Middle Aged ,Descemet Membrane ,eye diseases ,Cataract - Abstract
A 54-year-old man, with history of undergoing deep anterior lamellar keratoplasty (DALK) 20 months ago, presented with mature senile cataract in the same eye. While undergoing phacoemulsification, a large, central Descemet membrane detachment (DMD) was noted, separating the donor cornea from the host predescemetic layer. No DM tears were noted. Stromal puncture was done at the graft host junction to reduce the extent of DMD. This was followed by a large intracameral air bubble insertion, which resulted in complete resolution of DMD on the first postoperative day. DMD during hydration of wound is a unique complication to be anticipated while doing cataract surgery in an operated DALK eye.
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- 2024
31. Insidious ocular surface lesion in an 81-year-old woman
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Jay J Lee, Kirk A J Stephenson, Mark T Forristal, and Elizabeth M McElnea
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Aged, 80 and over ,Skin Neoplasms ,genetic structures ,Eye Neoplasms ,Mitomycin ,Humans ,Female ,sense organs ,General Medicine ,Melanoma ,Orbit ,eye diseases - Abstract
Ocular surface melanoma (OSM) is rare. An 81-year-old Caucasian woman presented with a 4-month history of right eye pain and reduced vision. Histopathological examination of the excisional biopsy identified invasive amelanotic melanoma of the conjunctiva expressing Melan A and SOX10. X-ray of chest, CT of liver and MRI of the brain and orbit did not identify macroscopic metastases. She was given adjuvant topical mitomycin-C 0.04% for four cycles of 2 weeks. Her vision improved and the cornea was clear at 6 months.
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- 2024
32. Spontaneous postpartum lateral rectus haemorrhage
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Daire John Hurley, Rory Murphy, and Stephen Farrell
- Subjects
Retrobulbar Hemorrhage ,genetic structures ,Oculomotor Muscles ,Postpartum Period ,Exophthalmos ,Humans ,Female ,sense organs ,General Medicine ,Orbit ,eye diseases - Abstract
A postpartum woman presented with sudden-onset left eyelid swelling and severe pain. Clinical examination revealed left exophthalmos and ophthalmoplegia with marked resistance to retropulsion of the left globe. The patient was not able to perceive light in the affected left eye and a relative afferent pupillary defect was present. CT orbits showed an enhancing lesion in the left retrobulbar space, suggestive of a lateral rectus haemorrhage. An emergency left lateral canthotomy and inferior cantholysis was performed. A day later, an MRI showed expansion of the left lateral rectus with significant mass effect on the globe. As the visual acuity remained reduced at counting fingers and there was a persistent relative afferent pupillary defect (RAPD), an exploratory orbitotomy and haematoma evacuation was performed. Three days postoperatively, the visual acuity had returned to 6/6. Eye movements normalised within 2 weeks and follow-up imaging revealed near complete resolution of the haematoma.
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- 2024
33. Rare early presentation of bilateral compressive optic neuropathy with complete vision loss from nasopharyngeal carcinoma
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Yongyao Kong and Gee Jin Ng
- Subjects
Nasopharyngeal Carcinoma ,genetic structures ,Optic Nerve Diseases ,Vision Disorders ,Humans ,Nasopharyngeal Neoplasms ,Optic Nerve ,General Medicine ,eye diseases - Abstract
Nasopharyngeal carcinoma is very rarely associated with bilateral vision loss, and only in advanced disease. We report a case of bilateral severe compressive optic neuropathy as a first presentation from massive nasopharyngeal carcinoma with poor visual outcome despite corticosteroid, chemotherapy and radiotherapy. Red flag symptoms and signs of mass lesions in the posterior nasal space should be investigated and treated promptly to prevent devastating visual and prognostic consequences.
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- 2024
34. Higher order visual dysfunction and myoclonic-atonic seizure: an atypical presentation of CLN6 neuronal ceroid lipofuscinosis
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Debaleena Mukherjee, Dwaipayan Bhattacharyya, Alak Pandit, and Souvik Dubey
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genetic structures ,Neuronal Ceroid-Lipofuscinoses ,Seizures ,Humans ,Membrane Proteins ,Electroencephalography ,Epilepsies, Myoclonic ,General Medicine ,Child ,Myoclonic Epilepsies, Progressive ,eye diseases - Abstract
Neuronal ceroid lipofuscinosis is a rare childhood neurodegenerative disease, classified under the spectrum of progressive myoclonic epilepsy (PME). Cognitive decline, seizures including myoclonus, vision loss and ataxia are the commonly described manifestations of this illness. While visual failure in this disease is largely attributed to retinal, macular degeneration and optic atrophy, with this index case, we report an atypical presentation in the form of higher order visual dysfunction. The pattern of cognitive regression has further been explored here with higher order visual dysfunction and language regression being the predominant manifestations, stemming from an involvement of bilateral occipitoparietal/occipitotemporal networks. Yet another unique feature of this case also lies in the occurrence of myoclonic-atonic seizure, a semiology rarely reported before in PME.
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- 2024
35. Atypical case of retinopathy of prematurity with candle wax-like preretinal deposits and its surprising response to intravitreal antivascular endothelial growth factor
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Miloni Suketu Shah, Srikanta Kumar Padhy, Suman Sahu, and Tapas Ranjan Padhi
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Laser Coagulation ,genetic structures ,Infant, Newborn ,Infant ,Angiogenesis Inhibitors ,Gestational Age ,General Medicine ,Endothelial Growth Factors ,eye diseases ,Bevacizumab ,Intravitreal Injections ,Humans ,Retinopathy of Prematurity ,sense organs ,Retrospective Studies - Abstract
Presented here is a case of hybrid retinopathy of prematurity (ROP) with features of both aggressive posterior ROP and ridge-like staged ROP with extensive candle wax-like preretinal deposits plastered on the surface of the retina from optic disc to vascular–avascular junction at a postmenstrual age (PMA) of 34 weeks. The baby was too sick for laser photocoagulation and so underwent intravitreal bevacizumab at half adult doses in both eyes. The deposits melted dramatically within 1–2 weeks of antivascular endothelial growth factor injection without any signs of recurrence till the last visit at 58 weeks of PMA.
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- 2024
36. Unusual presentation of cornea verticillata with intravitreal methotrexate in a case of primary intraocular lymphoma
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Nasiq Hasan, Harpreet Kaur Narde, Amit Kumar Das, and Rohan Chawla
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Cornea ,Methotrexate ,genetic structures ,Intraocular Lymphoma ,Lymphoma ,Eye Neoplasms ,Intravitreal Injections ,Humans ,Female ,sense organs ,General Medicine ,Middle Aged ,eye diseases - Abstract
A 56-year-old woman presented with floaters and diminution of vision in the right eye for 1 week. On examination, visual acuity was 20/400 in the right eye and 20/60 in the left eye. Indirect ophthalmoscopy revealed vitritis in the right eye and subretinal deposits in both eyes. Vitreous biopsy of the right eye revealed large B-cell-type primary intraocular lymphoma and the patient underwent multiple intravitreal methotrexate injections (400 μg/0.1 mL) in the right eye and systemic chemotherapy for bilateral disease. Following biweekly injections of methotrexate, her visual acuity improved considerably from 20/400 to 20/60 with resolution of vitritis. However, following eighth dose of intravitreal methotrexate, she experienced visual decline to 20/120 along with photophobia, redness and watering. Whorl-shaped opacities, limbitis and corneal haze were noted on slit-lamp examination. Intravitreal methotrexate was stopped, and the patient was started on frequent topical lubricants, loteprednol, topical folinic acid and oral folic acid. Complete resolution of corneal toxicity was observed at 3 weeks and the injections were suspended as there was no recurrence at 6 months follow-up.
- Published
- 2024
37. Simultaneous Optical Coherence Tomography and Scheimpflug Imaging Using the Same Incident Light
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Li, Xiaoran, Shen, Yaochun, and Zheng, Yalin
- Subjects
genetic structures ,sense organs ,eye diseases - Abstract
Medical imaging technologies can improve the diagnosis and clinical management of many ophthalmic diseases. Cross-sectional ophthalmic imaging devices are essential clinical tools for diagnosing and monitoring medical conditions that affect the anterior segment of the eye. Optical imaging technologies such as optical coherence tomography (OCT) and Scheimpflug imaging (SI) are well developed and widely used in the field of ophthalmology due to its non-invasive and non-contact characteristics. For any single anterior chamber cross-sectional (tomographic) imaging technology, there is a practical compromise between image size and image resolution. In order to obtain large field-of-view (FOV) cross-sectional images of the whole anterior chamber and high-resolution cross-sectional images of the fine corneal layers, measurements by multiple devices are currently required, e.g., OCT and SI devices. This incurs a significant device capital cost, time cost of technicians and clinicians and patients as well as inconvenience to the patients. This project presents a novel raster scanning tomographic imaging device that acquires simultaneously large FOV Scheimpflug and high-resolution spectral domain OCT (SD-OCT) cross-sectional images using the same illuminating photons to overcome the need of multiple devices for cross-sectional imaging. Based on this new idea, two imaging modalities have been developed: a Point-Scanning (PS) device and Line-Field (LF) device. First, a novel imaging device that combines PS-OCT and Scheimpflug image has been developed using fibre optics due to the advantages of its compactness and portability. This new imaging device can take a large-FOV Scheimpflug image covering the whole anterior chamber with an image depth of 12.5 mm and a high-resolution OCT image of cornea with an axial resolution of 2.7µm (nG=1.37). This device allows both Scheimpflug image and OCT images to be obtained simultaneously by raster scanning of the same infrared illuminating light. A pair of polarisers are used in Scheimpflug images during raster scanning in order to address the issues related to the surface reflection. Twelve porcine and fourteen bovine eyes were measured ex-vivo using the device. It was demonstrated that the device has the capability of acquiring simultaneously large FOV SI images covering whole anterior segment of eye and high axial resolution OCT images of cornea resolving thin corneal layers including the epithelium, stroma, and the Descemet’s and Endothelium complex. Second, another new device that combines LF-OCT and SI imaging has been developed. This enables entire high-resolution OCT B-scan image and large FOV SI cross-sectional image to be obtained simultaneously in parallel in a single shot. This imaging configuration with its increased imaging speed has the potential to minimise the image artefacts caused by patients’ involuntary motion or blinking during an in-vivo examination. Third, a new thickness correction method has been developed to correct the thickness distortion in the Scheimpflug image caused by the refraction of the light beam in the cornea. There is a reasonable agreement in the overall central corneal thicknesses (CCT) obtained from the simultaneous OCT and Scheimpflug measurements, which demonstrates the accuracy and reliability of the thickness correction method for the Scheimpflug device. In addition, using the proposed new device both OCT and SI images were taken simultaneously at the same cornea position using the same illumination light, the physical thickness of the cornea obtained by OCT and SI should be the same. This provides a unique method for directly measuring the refractive index of each individual cornea samples. To be concluded, there are three significant contributions of this thesis: the idea of combining a SD-OCT and SI to a single device is proposed and implemented using scanning-point configuration in order to obtain OCT and Scheimpflug images simultaneously. Then, the imaging speed is largely improved by further developing line-field configuration. Consequently, the motion artefact will be reduced for in-vivo measurement, which paves the way to develop further this technology to a commercial medical imaging device. In addition, a modified Scheimpflug thickness correction method is proposed and developed to correct thickness error caused by light refraction. As this correction method only works for central cornea region, a new correction method that is suitable for the whole corneal is proposed and implemented.
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- 2024
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38. Development of core outcome sets for clinical research and practice in amblyopia, strabismus, and ocular motility disorders
- Author
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Al Jabri, Samiya, Rowe, Fiona, and Kirkham, Jamie
- Subjects
genetic structures ,eye diseases - Abstract
The effect of randomised controlled trials (RCTs) is diminished by inconsistent outcome reporting, precluding the efficient synthesis of data into systematic reviews and meta-analyses. Amblyopia, strabismus, and ocular motility disorder patients constitute a significant proportion of those seen in ophthalmology generally and in paediatric ophthalmology specifically, making efficient synthesis of research data a greater necessity. Core Outcome Sets (COS), defined as agreed standardised sets of outcomes that should be measured and reported, as a minimum, in all clinical trials in a health area, have been found to help with the problem of inappropriate and inconsistent outcomes. The objective of this research was to develop three COS for amblyopia, strabismus, and ocular motility disorders. The methods comprised a systematic review to identify reported outcomes and establish whether there was outcome reporting inconsistency as suggested by other studies; qualitative semi-structured focus group meetings with patients, carers and healthcare professionals to establish outcomes of their importance; and finally, a Delphi online survey and consensus meetings with stakeholders to reach agreement on what should be included in the COS. The systematic review, which included 142 trials, systematic reviews, and other studies, identified significant heterogeneity in outcome reporting, and populated the Delphi process with 24 outcomes for amblyopia, 47 for strabismus, and 68 for ocular motility disorders. The qualitative study reflected the fact that long-term outcomes and quality-of-life aspects are the greatest priority of patients and carers, and resulted in the addition of 7, 14, and 10 outcomes to the three conditions, respectively. Although consensus between stakeholders was not reached conclusively in the Delphi survey, it resulted in the identification of the most critical outcomes, which were then collapsed into nine to ten core outcomes in the consensus meetings, with significant overlap between the three conditions. All three conditions shared the core outcomes: adverse events, cost, vision-related quality of life, and ocular alignment. The strabismus and ocular motility disorder core sets included, in addition, patient satisfaction, symptoms, binocular vision, ocular movement, and deviation. The ocular motility disorders COS included clinical signs, additionally. The amblyopia set, distinct from the sets for the other two conditions, included best corrected distance and near visual acuity, compliance, refraction, and treatment-related and long-term impacts. Implementation of these COS will improve outcome consistency, which will facilitate the comparison and combination of clinical trials and therefore synthesis of their data into meta-analyses. Further consideration must be given to increasing the uptake of the COS to maximise its usefulness, and future work will be required to standardise methods and timings of measurements. Continuous review and update of the COS to match future new interventions may be required.
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- 2024
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39. A contemporary insight into SARS-CoV-2 pathophysiology, retrieved threat of mutants and prospect of vaccine development.
- Author
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DASH, Rasmita and MOHAPATRA, Sujata
- Subjects
- *
COVID-19 pandemic , *PATHOLOGICAL physiology , *VACCINE development , *COVID-19 vaccines , *VIRAL vaccines - Abstract
The COVID-19 pandemic has conceived a monstrous threat among the population. Here we portray some of the recent studies on COVID-19 which may supply bases for future research. This review brings a spotlight on the mode of transmission, pathophysiology, genetic structure, mutants of SARS-CoV-2, progress on the vaccination and some recent peculiar disguisable facts about the novel coronavirus 2019. Major scrutiny has been prepared on the new strains of SARS-CoV-2 and also a critical brief review on the ongoing vaccine research strategy and vaccine progress has been added further to that. Being in research this collection of data could have some advantageous response in the development of vaccines and understanding the actual behavior of SARS-CoV-2 in the research territory. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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40. Temporal and spatial scaling of the genetic structure of a vector-borne plant pathogen.
- Author
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Coletta-Filho, Helvécio D, Francisco, Carolina S, and Almeida, Rodrigo PP
- Subjects
Animals ,Xylella ,Citrus sinensis ,Crops ,Agricultural ,DNA ,Bacterial ,Cluster Analysis ,Ecology ,Genetics ,Population ,Insect Vectors ,Species Specificity ,Plant Diseases ,Microsatellite Repeats ,Genotype ,Genetic Structures ,Geography ,Brazil ,Genetic Variation ,Genetics ,Biotechnology ,Microbiology ,Plant Biology ,Crop and Pasture Production ,Plant Biology & Botany - Abstract
The ecology of plant pathogens of perennial crops is affected by the long-lived nature of their immobile hosts. In addition, changes to the genetic structure of pathogen populations may affect disease epidemiology and management practices; examples include local adaptation of more fit genotypes or introduction of novel genotypes from geographically distant areas via human movement of infected plant material or insect vectors. We studied the genetic structure of Xylella fastidiosa populations causing disease in sweet orange plants in Brazil at multiple scales using fast-evolving molecular markers (simple-sequence DNA repeats). Results show that populations of X. fastidiosa were regionally isolated, and that isolation was maintained for populations analyzed a decade apart from each other. However, despite such geographic isolation, local populations present in year 2000 were largely replaced by novel genotypes in 2009 but not as a result of migration. At a smaller spatial scale (individual trees), results suggest that isolates within plants originated from a shared common ancestor. In summary, new insights on the ecology of this economically important plant pathogen were obtained by sampling populations at different spatial scales and two different time points.
- Published
- 2014
41. Detection of Ancestry Information of Urumqi Mongolians Based on the AIM-InDels Loci Multiplex System
- Author
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SHEN Chun-mei, XIE Tong, MEI Shu-yan,et al.
- Subjects
forensic genetics ,genetics, population ,genetic structures ,ancestry informative marker ,insertion/deletion ,mongolian ,urumqi ,Medicine - Abstract
Objective To explore the genetic background and structure of Urumqi Mongolians, the previously developed 39-AIM-InDels panel for ancestry inference was utilized in the present study. Methods The blood samples of 145 unrelated healthy Urumqi Mongolian individuals were collected and genotyped. The compositions of ancestry information of Urumqi Mongolians were studied with 17 different populations from three continents (East Asia, Europe and Africa) as reference populations. Then, multiple population genetics and bioinformatics analysis methods were applied, the Fst and DA values between matched populations were compared and analyzed, PCA analysis was performed and a phylogenetic tree was constructed. The proportions of ancestry information components of Urumqi Mongolians were analyzed with Structure software, etc. Results The ancestry information components of Urumqi Mongolian group in different intercontinental populations accounted for 89%, 7%, and 3% of East Asian, European, and African populations, respectively. Compared with other intercontinental populations, Urumqi Mongolian group and East Asian populations have lower Fst and DA values, and they were in the same cluster in PCA analysis as well. In a phylogenetic tree, the Urumqi Mongolian group was in the same branch as East Asian populations. Conclusion Urumqi Mongolian group had relatively close genetic relationships with East Asian populations, and the proportion of its East Asian ancestry was about 89%.
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- 2019
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42. Genetic Structure Analysis of Y-Chromosome STR and SNP in Population of Wujiang Area, Suzhou City
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WU Ze, CHEN Tian-fa, ZENG Zhi-fan, et al
- Subjects
orensic genetics ,short tandem repeat ,single nucleotide polymorphism ,y chromosome ,genetic structures ,haplogroup ,han nationality ,suzhou ,Medicine - Abstract
Objective To analyze the genetic phenotypes of Y-chromosome STR and SNP in Han male population of Wujiang area, Suzhou City and explore the genetic structure of population of Wujiang area for further examination of regional-specific Y-SNP genetic markers ancestor haplogroups. Methods Blood samples of 472 Wujiang area Han males were randomly collected and genotyped by YfilerTM Plus PCR Amplification Kit. The allele frequencies and haplotype frequencies of each locus were obtained using the direct calculation method. Y-SNP haplogroups of each sample were estimated using Y-Predictor software and verified through experiments by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Results A total of 453 haplotypes were found in the 27 Y-STR genetic markers in 472 Han males of Wujiang area. The haplotype diversity (HD) was 0.997 696 93, among which, the highest gene diversity (GD) value was DYF387S1a/b (GD=0.953 1) and the lowest was DYS438 (GD=0.321 8). Based on genotyping data of 27 Y-STRs and 472 samples, 132 haplogroups from C, D, N, O and Q, etc downstream Y-SNP haplogroups were estimated and then verified through experiments. Conclusion This study is based on Y-chromosome STR haplotypes, and predicts Y-SNP haplogroups by Y-Predictor software, then uses ARMS-PCR to verify. Y-SNP genetic markers were introduced to achieve precise analysis of the genetic structure of male families in population of three towns in Wujiang area.
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- 2019
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43. Glycerin-Assisted Vitreoretinal Surgery in Edematous Cornea
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Suneel Kumar, Abhidnya Surve, Namrata Sharma, Shorya Vardhan Azad, and Vinod Kumar
- Subjects
medicine.medical_specialty ,genetic structures ,business.industry ,Internal limiting membrane ,medicine.medical_treatment ,Vitreoretinal Surgeries ,Band removal ,Intraocular lens ,General Medicine ,Vitreoretinal surgery ,eye diseases ,Surgery ,Posterior segment of eyeball ,Ophthalmology ,medicine.anatomical_structure ,Corneal edema ,Cornea ,medicine ,sense organs ,business - Abstract
Purpose To describe the use of glycerine in improving media clarity in cases with edematous cornea. Methods Retrospective case-series including patients with posterior segment pathologies needing surgical invention and having corneal edema. Each case was studied for the role of topical application of glycerine instead of viscoelastic agents and the course of surgery. The cases were followed up for minimum 3-months duration. Results Six cases with corneal edema having posterior segment pathology underwent surgery with intraoperative topical application of glycerine. The corneal edema was seen to clear with progression of surgery and was maintained until the end of surgery. Procedures like vitreoretinal surgery, identification of break, internal limiting membrane peeling, intraocular lens explantation, scleral indentation, DSEK graft removal, and subretinal band removal could be performed in these cases. Conclusion Intraoperative glycerine use during vitreoretinal surgeries is helpful in improving the corneal clarity and maintaining it till the end of surgery.
- Published
- 2023
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44. Geometric Deep Learning to Identify the Critical 3D Structural Features of the Optic Nerve Head for Glaucoma Diagnosis
- Author
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Fabian A. Braeu, Alexandre H. Thiéry, Tin A. Tun, Aiste Kadziauskiene, George Barbastathis, Tin Aung, and Michaël J.A. Girard
- Subjects
FOS: Computer and information sciences ,Computer Science - Machine Learning ,genetic structures ,Computer Science - Artificial Intelligence ,Computer Vision and Pattern Recognition (cs.CV) ,Image and Video Processing (eess.IV) ,Computer Science - Computer Vision and Pattern Recognition ,Electrical Engineering and Systems Science - Image and Video Processing ,eye diseases ,Machine Learning (cs.LG) ,Ophthalmology ,Artificial Intelligence (cs.AI) ,FOS: Electrical engineering, electronic engineering, information engineering ,sense organs - Abstract
Purpose: The optic nerve head (ONH) undergoes complex and deep 3D morphological changes during the development and progression of glaucoma. Optical coherence tomography (OCT) is the current gold standard to visualize and quantify these changes, however the resulting 3D deep-tissue information has not yet been fully exploited for the diagnosis and prognosis of glaucoma. To this end, we aimed: (1) To compare the performance of two relatively recent geometric deep learning techniques in diagnosing glaucoma from a single OCT scan of the ONH; and (2) To identify the 3D structural features of the ONH that are critical for the diagnosis of glaucoma. Methods: In this study, we included a total of 2,247 non-glaucoma and 2,259 glaucoma scans from 1,725 subjects. All subjects had their ONHs imaged in 3D with Spectralis OCT. All OCT scans were automatically segmented using deep learning to identify major neural and connective tissues. Each ONH was then represented as a 3D point cloud. We used PointNet and dynamic graph convolutional neural network (DGCNN) to diagnose glaucoma from such 3D ONH point clouds and to identify the critical 3D structural features of the ONH for glaucoma diagnosis. Results: Both the DGCNN (AUC: 0.97$\pm$0.01) and PointNet (AUC: 0.95$\pm$0.02) were able to accurately detect glaucoma from 3D ONH point clouds. The critical points formed an hourglass pattern with most of them located in the inferior and superior quadrant of the ONH. Discussion: The diagnostic accuracy of both geometric deep learning approaches was excellent. Moreover, we were able to identify the critical 3D structural features of the ONH for glaucoma diagnosis that tremendously improved the transparency and interpretability of our method. Consequently, our approach may have strong potential to be used in clinical applications for the diagnosis and prognosis of a wide range of ophthalmic disorders.
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- 2023
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45. AUTOLOGOUS RETINAL TRANSPLANT FOR REFRACTORY SEROUS RETINAL DETACHMENT SECONDARY TO OPTIC DISK PIT: A NOVEL SURGICAL APPROACH
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Assad Jalil, Tsveta Ivanova, and Hadi Ziaei
- Subjects
Retina ,medicine.medical_specialty ,Visual acuity ,genetic structures ,business.industry ,medicine.medical_treatment ,Retinal detachment ,Vitrectomy ,Retinal ,General Medicine ,medicine.disease ,eye diseases ,Serous Retinal Detachment ,Ophthalmology ,chemistry.chemical_compound ,medicine.anatomical_structure ,chemistry ,medicine ,sense organs ,Tamponade ,medicine.symptom ,business ,Optic disc - Abstract
PURPOSE To present a new technique to treat refractory retinal detachment secondary to optic disc pit. METHODS An interventional case report. RESULTS A 25-year-old man with congenital optic disc pit had two failed vitrectomies involving laser around the optic disc, internal limiting membrane peel and flap to plug the disc pit, and gas tamponade to reattach the retina. With all options running out, a further vitrectomy with autologous retinal transplant and silicone oil tamponade was carried out to treat the refractory serous retinal detachment; the silicone oil was removed at 6 weeks after the last procedure. The retina remained successfully attached at 6 months post-surgery with the patient maintaining his baseline visual acuity. CONCLUSION The use of autologous retinal transplant is a new approach to treat refractory retinal detachment secondary to congenital optic disc anomalies, and adds to our options of dealing with this complex condition when first-line approaches have failed.
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- 2023
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46. CHORIORETINITIS SCLOPETARIA AND ORBITAL EMPHYSEMA CAUSED BY A HIGH-VELOCITY LIQUID MISSILE
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Sandra R. Montezuma, J. Erik Kulenkamp, Rusdeep Mundae, Christopher J. Hwang, Andrew R. Harrison, Ali Mokhtarzadeh, and Alisha Kamboj
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medicine.medical_specialty ,Visual acuity ,genetic structures ,business.industry ,Chorioretinitis ,Retinal ,General Medicine ,Fundus (eye) ,medicine.disease ,eye diseases ,Ophthalmology ,chemistry.chemical_compound ,medicine.anatomical_structure ,chemistry ,Blurred vision ,Vitreous hemorrhage ,medicine ,sense organs ,medicine.symptom ,business ,Macular hole ,Orbit (anatomy) - Abstract
Purpose To highlight a case of chorioretinitis sclopetaria, with concomitant macular hole formation and orbital emphysema, caused by a commercial-grade pressure washer. Patient A 19-year-old male presented to the emergency department with a left eye injury, incurred after being sprayed with a commercial-grade pressure washer. He endorsed ipsilateral blurred vision, pain, and linear floaters. Left eye visual acuity was 20/40. Dilated fundus exam showed inferior vitreous hemorrhage, retinal whitening, and pre-, intra-, and sub-retinal hemorrhages, consistent with chorioretinitis sclopetaria. Optical coherence tomography revealed a full-thickness macular hole. Computed tomography scan of the orbits showed subcutaneous and post-septal orbital emphysema. Two months following injury, vitreous and retinal hemorrhages and macular hole resolved. Five months following injury, visual acuity improved to 20/20. Discussion Chorioretinitis sclopetaria is defined as a full-thickness chorioretinal disruption resulting from a high-velocity projectile passing adjacent to or into the orbit without penetrating the globe. Chorioretinal deformation and ocular comorbidities are influenced by the velocity of the missile and its spatial relationship to the orbit. While this pattern of injury is typically associated with indirect trauma to the globe by a BB or a bullet, this is the first report of chorioretinitis sclopetaria precipitated by a high-velocity liquid missile.
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- 2023
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47. NOVEL MFRP MUTATION WITH NANOPHTHALMOS, OPTIC DISK DRUSEN, AND PERIPHERAL RETINOSCHISIS IMAGED WITH ULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY
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Kyle D. Kovacs, Sarah H. Van Tassel, and Mrinali P. Gupta
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Retina ,medicine.medical_specialty ,genetic structures ,medicine.diagnostic_test ,business.industry ,Retinoschisis ,Glaucoma ,General Medicine ,medicine.disease ,Optic disc drusen ,eye diseases ,Hypoplasia ,Foveoschisis ,Ophthalmology ,medicine.anatomical_structure ,Optical coherence tomography ,Retinitis pigmentosa ,medicine ,sense organs ,business - Abstract
Purpose To describe with multimodal imaging including the use of ultra-widefield optical coherence tomography (OCT) imaging a distinct phenotype of autosomal recessive nanophthalmos associated with a novel mutation of the MFRP gene (membrane-type frizzled-related protein). Methods Case report and review of the relevant literature. Patients Single patient followed by the Weill Cornell Medicine Department of Ophthalmology Retina and Glaucoma Services. Results A patient with a novel homozygous mutation in the MFRP gene (c.472C>T) presented with nanophthalmos, optic disc drusen, foveal hypoplasia, and extensive peripheral retinoschisis, which was revealed to be multilevel retinoschisis on ultra-wide field OCT. Unlike other reported cases, the findings associated with this novel mutation did not include foveoschisis nor clinically obvious retinitis pigmentosa. The patient underwent prophylactic peripheral laser iridotomy in both eyes. Conclusion Here we present a patient with nanophthalmos, optic disc drusen, and foveal hypoplasia associated with extensive peripheral retinoschisis imaged by ultra-widefield OCT, but not foveal retinoschisis or prominent retinitis pigmentosa. The findings may expand the clinical spectrum of MFRP-associated nanophthalmos.
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- 2023
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48. ADULT-ONSET BEST1-VITELLIFORM DYSTROPHY ASSOCIATED WITH ANGIOID STREAK-LIKE CHANGES IN TWO SIBLINGS
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Tomas S. Aleman, Yafeng Li, Alexander J. Brucker, and Peter Bracha
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medicine.medical_specialty ,Best disease ,Visual distortion ,genetic structures ,business.industry ,Posterior pole ,Dystrophy ,General Medicine ,Macular dystrophy ,medicine.disease ,eye diseases ,Ophthalmology ,Angioid streaks ,Macular Lesion ,Medicine ,Missense mutation ,sense organs ,business - Abstract
BACKGROUND/PURPOSE To describe the association between autosomal dominant Best disease and peripapillary angioid streak-like changes. METHODS Case report of two siblings. RESULTS A 76-year-old Caucasian male was referred for evaluation of bilateral macular changes and worsening visual distortion over the preceding 2 years. Best corrected visual acuity (BCVA) measured 20/30 in the right eye and 20/80 in the left eye. Funduscopic examination revealed multifocal yellow lesions in the posterior pole that were hyper-autofluorescent on short-wavelength excitation and corresponded with subretinal hyperreflective material on optical coherence tomography. The posterior pole examination was interesting due to the juxtapapillary involvement of the vitelliform lesions as well as the presence of bilateral peripapillary angioid streak-like changes despite no history of conditions associated with angioid streaks. On further workup, an electro-oculogram revealed reduced Arden ratios and a known heterozygous missense mutation in BEST1 (c.903T>G; p.D301E) was found. The patient's 69-year-old younger brother was brought in and found to have a remarkably similar phenotype, including the presence of angioid streak-like changes associated with the same BEST1 mutation. CONCLUSIONS These two cases demonstrate the possibility of late-onset multifocal vitelliform disease due to dominantly inherited BEST1. A consistent phenotype in this family with macular lesions extending into the peripapillary region, associated with angioid streak-like changes, suggests susceptibility of this region to changes in dominant BEST1-vitelliform macular dystrophy.
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- 2023
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49. CENTRAL SEROUS CHORIORETINOPATHY MIMICKING IDIOPATHIC UVEAL EFFUSION SYNDROME
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Alain Gaudric, Etienne Boulanger, Corinne Delahaye-Mazza, Sophie Bonnin, and Ramin Tadayoni
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medicine.medical_specialty ,genetic structures ,medicine.diagnostic_test ,business.industry ,Retinal detachment ,Magnetic resonance imaging ,General Medicine ,Fundus (eye) ,Fluorescein angiography ,medicine.disease ,eye diseases ,Scleral thickening ,Ophthalmology ,Serous fluid ,medicine.anatomical_structure ,Effusion ,Medicine ,sense organs ,Choroid ,business - Abstract
Purpose To describe central serous chorioretinopathy (CSCR) cases presenting as uveal effusion syndrome, providing new insights into "pachychoroid spectrum" diseases. Methods Clinical charts, color fundus photographs, fluorescein angiography, indocyanine green angiography, optical coherence tomography, ultrasound imaging, cerebral magnetic resonance imaging and biometry of four eyes of three patients were assessed. A literature review was conducted. Results The three patients had peripheral choroidal detachment and inferior bullous retinal detachment associated with CSCR features detected using multimodal imaging, including fluorescein and indocyanine green angiography. The choroid was thick in the three patients, and uveal effusion occurred after steroid treatment in all cases. Subretinal fluid drainage and deep sclerectomy with flaps of 4x4 mm in both inferior quadrants were performed in 3 eyes of 2 patients with good outcomes. One patient was treated with photodynamic therapy. All three patients developed a typical leopard-spot pigmentary pattern in the fundus. Conclusion A severe presentation of highly exudative CSCR may occur in rare cases with a peripheral choroidal detachment mimicking uveal effusion syndrome. These severe cases highlighted the role of choroidal thickening and hyperpermeability, choroidal vein dilation and possible scleral thickening in both entities.
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- 2023
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50. Myopic macular pits: a case series with multimodal imaging
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Giovanni Greaves, Srinivas R. Sadda, Meira Fogel Levin, David Sarraf, K. Bailey Freund, and Frederic Gunnemann
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Multimodal imaging ,medicine.medical_specialty ,genetic structures ,medicine.diagnostic_test ,business.industry ,Chorioretinal atrophy ,Retinal ,General Medicine ,Optical coherence tomography angiography ,Fluorescein angiography ,eye diseases ,Sclera ,Ophthalmology ,chemistry.chemical_compound ,medicine.anatomical_structure ,Optical coherence tomography ,chemistry ,medicine ,Near infrared reflectance ,sense organs ,business - Abstract
Objective To characterize the multimodal retinal findings of myopic macular pits, a feature of myopic degeneration. Methods A case series of patients with myopic macular pits were studied with multimodal imaging including color fundus photography, fundus autofluorescence (FAF), near infrared reflectance (NIR), spectral domain optical coherence tomography (OCT), optical coherence tomography angiography (OCTA), fluorescein angiography (FA) and indocyanine green angiography (ICG). Results Nine eyes of 6 patients with myopic macular pit were examined. Four patients presented with multiple pits and 3 with bilateral involvement. All pits were localized in a region of severe macular chorioretinal atrophy associated with myopic posterior staphyloma. In 3 eyes, the entrance of the posterior ciliary artery through the sclera was noted at the base of the pit. Schisis overlying the pit or adjacent to the pit was identified in 3 patients. Conclusion Myopic macular pits are an additional rare sign of myopic degeneration, developing in regions of posterior staphyloma complicated by severe chorioretinal atrophy and thin sclera.
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- 2023
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