cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.12237575.v1
title: A Review of Capture-recapture Methods and Its Possibilities in Ophthalmology and Vision Sciences

description: Epidemiological information is expected to be used to develop key aspects of eye care such as to control and minimise the impact of diseases, to allocate resources, to monitor public health actions, to determine the best treatment options and to forecast the consequence of diseases in populations. Epidemiological studies are expected to provide information about the prevalence and/or incidence of eye diseases or conditions. To determine prevalence is necessary to perform a cross-sectional screening of the population at risk to ascertain the number of cases. The aim of this review is to describe and evaluate capture-recapture methods (or models) to ascertaining the number of individuals with a disease (e.g. diabetic retinopathy) or condition (e.g. vision impairment) in the population. The review covers the fundamental aspects of capture-recapture methods that would enable non-experts in epidemiology to use it in ophthalmic studies. The review provides information about theoretical aspects of the method with examples of studies in ophthalmology in which it has been used. We also provide a problem/solution approach for limitations arising from the lists obtained from registers or other reliable sources. We concluded that capture-recapture models can be considered reliable to estimate the total number of cases with eye conditions using incomplete information from registers. Accordingly, the method may be used to maintain updated epidemiological information about eye conditions helping to tackle the lack of surveillance information in many regions of the globe.
DOI: 10.6084/m9.figshare.12046083
title: Eye-Related Emergency Department Visits and The Opioid Epidemic: a 10-Year Analysis

description: To describe the epidemiology of Emergency Department (ED) visits related to opioid abuse with primary ophthalmic diagnoses in the United States (US). This retrospective cross-sectional study used National ED Sample (NEDS) (2006–2015), a representative sample of all US EDs, to analyze and compare the epidemiology of primary ophthalmic diagnoses in opioid abusers and a control group of non-opioid users. National incidence and descriptive statistics were calculated for demographics and prevalent diagnoses. Multivariable logistic regression was used to compare outcomes between primary ophthalmic diagnoses in opioid and non-opioid abusers. An estimated 10,617 visits had a primary ophthalmic diagnosis and an accompanying opioid abuse diagnosis, and the incidence increased from 0.2 in 2006 to 0.6 per 100,000 US population in 2015. Opioid abuse group had more adults (6,747:63.5%) and middle-aged (3,361:31.7%) patients, while in controls adults (7,905,003:40.4%) and children (4,068,534:20.8%) were affected more. Leading etiologies were similar: traumatic and infectious etiologies were most common; however, opioid abuse patients had more severe ophthalmic diagnoses such as orbital fractures (8.4%), orbital cellulitis (7.4%), globe injury (3.4%) and endophthalmitis (3.2%) compared to controls. Patients in the opioid abuse group were also more likely to be admitted (adjusted Odds Ratio [aOR], 28.38 [95% CI, 24.50–32.87]). In the era of opioid crisis, an increase in ED visits with ophthalmic complaints is seen, with increasing direct and indirect costs on the healthcare system. More research is needed to establish causality and devise strategies to lower this burden.
DOI: 10.6084/m9.figshare.12237575
title: A Review of Capture-recapture Methods and Its Possibilities in Ophthalmology and Vision Sciences

description: Epidemiological information is expected to be used to develop key aspects of eye care such as to control and minimise the impact of diseases, to allocate resources, to monitor public health actions, to determine the best treatment options and to forecast the consequence of diseases in populations. Epidemiological studies are expected to provide information about the prevalence and/or incidence of eye diseases or conditions. To determine prevalence is necessary to perform a cross-sectional screening of the population at risk to ascertain the number of cases. The aim of this review is to describe and evaluate capture-recapture methods (or models) to ascertaining the number of individuals with a disease (e.g. diabetic retinopathy) or condition (e.g. vision impairment) in the population. The review covers the fundamental aspects of capture-recapture methods that would enable non-experts in epidemiology to use it in ophthalmic studies. The review provides information about theoretical aspects of the method with examples of studies in ophthalmology in which it has been used. We also provide a problem/solution approach for limitations arising from the lists obtained from registers or other reliable sources. We concluded that capture-recapture models can be considered reliable to estimate the total number of cases with eye conditions using incomplete information from registers. Accordingly, the method may be used to maintain updated epidemiological information about eye conditions helping to tackle the lack of surveillance information in many regions of the globe.
DOI: 10.6084/m9.figshare.11604204.v1
title: A founder <i>RDH5</i> splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds

description: <b>Background</b>: Retinitis punctate albescens (RPA) is a rare form of retinal dystrophy characterized by congenital stationary night blindness and a characteristic fundus appearance. Missense or nonsense mutations in <i>RDH5</i> in homozygous or heterozygous state have been implicated in <b>RPA</b>. <b>Material and methods</b>: Two consanguineous Pakistani kindreds with the highly variable manifestation of RPA were studied. Whole-exome sequencing was applied to the index subjects in both families. Sanger sequencing of the candidate <i>RDH5</i> variant was carried out. Pathogenicity of the detected variant was assessed through bioinformatics tools. <b>Results</b>: The ophthalmic examination through full-field electroretinogram of affected patients in both families was consistent with RPA. A novel splice donor variant at the first exon/intron boundary of <i>RDH5</i> (NM_002905.3: c.-33 + 2dup) segregated in recessive fashion with the clinical phenotype in both families. One of the heterozygous variant carriers was also observed to have a milder expression of retinal flecks. Haplotype analysis surrounding the splice variant and pattern of runs of homozygosity were suggestive of common ancestry in these families. <b>Conclusion</b>: This is the first report of any pathogenic splice variant at first exon/intron boundary implicated in RPA and suggests another mechanism through which <i>RDH5</i> variants could be associated with eye phenotype. This study also highlights the importance of a thorough phenotypic evaluation of heterozygous mutation carriers who may exhibit milder symptoms.
DOI: 10.6084/m9.figshare.11604204
title: A founder <i>RDH5</i> splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds

description: <b>Background</b>: Retinitis punctate albescens (RPA) is a rare form of retinal dystrophy characterized by congenital stationary night blindness and a characteristic fundus appearance. Missense or nonsense mutations in <i>RDH5</i> in homozygous or heterozygous state have been implicated in <b>RPA</b>. <b>Material and methods</b>: Two consanguineous Pakistani kindreds with the highly variable manifestation of RPA were studied. Whole-exome sequencing was applied to the index subjects in both families. Sanger sequencing of the candidate <i>RDH5</i> variant was carried out. Pathogenicity of the detected variant was assessed through bioinformatics tools. <b>Results</b>: The ophthalmic examination through full-field electroretinogram of affected patients in both families was consistent with RPA. A novel splice donor variant at the first exon/intron boundary of <i>RDH5</i> (NM_002905.3: c.-33 + 2dup) segregated in recessive fashion with the clinical phenotype in both families. One of the heterozygous variant carriers was also observed to have a milder expression of retinal flecks. Haplotype analysis surrounding the splice variant and pattern of runs of homozygosity were suggestive of common ancestry in these families. <b>Conclusion</b>: This is the first report of any pathogenic splice variant at first exon/intron boundary implicated in RPA and suggests another mechanism through which <i>RDH5</i> variants could be associated with eye phenotype. This study also highlights the importance of a thorough phenotypic evaluation of heterozygous mutation carriers who may exhibit milder symptoms.
DOI: 10.6084/m9.figshare.13669058.v1
title: Cultural Evolution of Love: Country-level modernization Predicts Passionate Love in the Society

description: Dataset of the large-scale study on love.
DOI: 10.5517/ccdc.csd.cc2203cl
title: CCDC 1906728: Experimental Crystal Structure Determination

description: Related Article: Ved Prakash Singh, Jayanta Dowarah, Brilliant N. Marak, Balkaran Singh Sran, Ashish Kumar Tewari|2021|J.Mol.Struct.|1239|130513|doi:10.1016/j.molstruc.2021.130513
DOI: 10.5517/ccdc.csd.cc2203dm
title: CCDC 1906729: Experimental Crystal Structure Determination

description: Related Article: Ved Prakash Singh, Jayanta Dowarah, Brilliant N. Marak, Balkaran Singh Sran, Ashish Kumar Tewari|2021|J.Mol.Struct.|1239|130513|doi:10.1016/j.molstruc.2021.130513
DOI: 10.5517/ccdc.csd.cc24m633
title: CCDC 1984654: Experimental Crystal Structure Determination

description: Related Article: Shu-Zhen Liu, Yang-Qing Chen, Hai-Qi Peng, Qiong Ji, Xuan-Xuan Wang, Lijun Wei, Qiu-Yue Zhong, Wen-Tong Chen|2021|J.Solid State Chem.|299|122170|doi:10.1016/j.jssc.2021.122170
DOI: 10.5517/ccdc.csd.cc24h1b1
title: CCDC 1980662: Experimental Crystal Structure Determination

description: Related Article: A.N. Kulakova, A.N. Bilyachenko, A.A. Korlyukov, M.M. Levitsky, J. Long, Y. Guari, J. Larionova|2021|J.Organomet.Chem.|942|121815|doi:10.1016/j.jorganchem.2021.121815
DOI: 10.5517/ccdc.csd.cc24wc2h
title: CCDC 1992496: Experimental Crystal Structure Determination

description: Related Article: Giang Vo-Thanh, Stéphane Wittmann, Thomas Martzel, Cong-Thanh Pham truong, Martial Toffano, Sylvain Oudeyer, Régis Guillot, Chloée Bournaud, Vincent Gandon, Jean-François Brière|2021|Angew.Chem.,Int.Ed.|60|11110|doi:10.1002/anie.202014489
DOI: 10.5517/ccdc.csd.cc2525gx
title: CCDC 1998088: Experimental Crystal Structure Determination

description: Related Article: Giang Vo-Thanh, Stéphane Wittmann, Thomas Martzel, Cong-Thanh Pham truong, Martial Toffano, Sylvain Oudeyer, Régis Guillot, Chloée Bournaud, Vincent Gandon, Jean-François Brière|2021|Angew.Chem.,Int.Ed.|60|11110|doi:10.1002/anie.202014489
DOI: 10.5517/ccdc.csd.cc2525hy
title: CCDC 1998089: Experimental Crystal Structure Determination

description: Related Article: Giang Vo-Thanh, Stéphane Wittmann, Thomas Martzel, Cong-Thanh Pham truong, Martial Toffano, Sylvain Oudeyer, Régis Guillot, Chloée Bournaud, Vincent Gandon, Jean-François Brière|2021|Angew.Chem.,Int.Ed.|60|11110|doi:10.1002/anie.202014489
DOI: 10.5517/ccdc.csd.cc25zmg8
title: CCDC 2025430: Experimental Crystal Structure Determination

description: Related Article: Shuai Zhang, Yifei Zhao, Jiadong Zhou, Hong Ming, Chun-Hai Wang, Xiping Jing, Shi Ye, Qinyuan Zhang|2021|Chem.Eng.Journal|421|129886|doi:10.1016/j.cej.2021.129886
DOI: 10.5517/ccdc.csd.cc25zn72
title: CCDC 2025454: Experimental Crystal Structure Determination

description: Related Article: Shuai Zhang, Yifei Zhao, Jiadong Zhou, Hong Ming, Chun-Hai Wang, Xiping Jing, Shi Ye, Qinyuan Zhang|2021|Chem.Eng.Journal|421|129886|doi:10.1016/j.cej.2021.129886
DOI: 10.5517/ccdc.csd.cc21twh8
title: CCDC 1901710: Experimental Crystal Structure Determination

description: Related Article: Jela Nociarová, Patrik Osuský, Erik Rakovský, Dimitris Georgiou, Ioannis Polyzos, Mihalis Fakis, Peter Hrobárik|2021|Org.Lett.|23|3460|doi:10.1021/acs.orglett.1c00893
DOI: 10.5517/ccdc.csd.cc26l2zw
title: CCDC 2043178: Experimental Crystal Structure Determination

description: Related Article: Jela Nociarová, Patrik Osuský, Erik Rakovský, Dimitris Georgiou, Ioannis Polyzos, Mihalis Fakis, Peter Hrobárik|2021|Org.Lett.|23|3460|doi:10.1021/acs.orglett.1c00893
DOI: 10.6084/m9.figshare.14124367
title: The adsorption of hydrogen on B<sub>36</sub>Li<sup>2+</sup><sub>6</sub> and the non-covalent interaction between them

description: Boron fullerenes are one type of important hydrogen storage materials, however, their performance should be further improved. Since ions can provide stronger interactions with H2 and thus better hydrogen storage capabilities, here, we explored the structure, stabilities and hydrogen storage properties of B36Li62+ exohedral fullerene by DFT calculations. The results show that B36Li62+ possesses thermodynamic, dynamic and chemical stabilities due to its high geometric symmetry and closed-shell electronic structure. Furthermore, eight H2 can be adsorbed on a Li atom with ideal adsorption energies (−0.090∼−0.201eV) and the mass density of 17.2 wt%. The non-covalent interaction between H2 and B36Li62+ is characteris ed and identified as Van der Waals type. The energy decomposition further reveals that the induced and electrostatic interactions mainly contribute to the adsorption energies. Our results not only deepen the understanding of non-covalent interaction in physical adsorption but also suggest that B36Li62+ is a potential hydrogen storage material.
DOI: 10.6084/m9.figshare.14124367.v1
title: The adsorption of hydrogen on B<sub>36</sub>Li<sup>2+</sup><sub>6</sub> and the non-covalent interaction between them

description: Boron fullerenes are one type of important hydrogen storage materials, however, their performance should be further improved. Since ions can provide stronger interactions with H2 and thus better hydrogen storage capabilities, here, we explored the structure, stabilities and hydrogen storage properties of B36Li62+ exohedral fullerene by DFT calculations. The results show that B36Li62+ possesses thermodynamic, dynamic and chemical stabilities due to its high geometric symmetry and closed-shell electronic structure. Furthermore, eight H2 can be adsorbed on a Li atom with ideal adsorption energies (−0.090∼−0.201eV) and the mass density of 17.2 wt%. The non-covalent interaction between H2 and B36Li62+ is characteris ed and identified as Van der Waals type. The energy decomposition further reveals that the induced and electrostatic interactions mainly contribute to the adsorption energies. Our results not only deepen the understanding of non-covalent interaction in physical adsorption but also suggest that B36Li62+ is a potential hydrogen storage material.
DOI: 10.6084/m9.figshare.14160580
title: Smooth potential-energy surfaces in fragmentation-based local correlation methods for periodic systems

description: Local approximations facilitate the application of post-Hartree–Fock methods in the condensed phase, but simultaneously introduce errors leading to discontinuous potential-energy surfaces. In this work, we explore how these discontinuities arise in periodic systems, their implications, and possible ways of controlling them. In addition, we present a fully periodic Divide-Expand-Consolidate second-order Møller–Plesset approach using an attenuated resolution-of-the-identity approximation for the electron repulsion integrals and a convenient class to handle translation-symmetric tensors in block-Toeplitz format.
DOI: 10.6084/m9.figshare.14160580.v1
title: Smooth potential-energy surfaces in fragmentation-based local correlation methods for periodic systems

description: Local approximations facilitate the application of post-Hartree–Fock methods in the condensed phase, but simultaneously introduce errors leading to discontinuous potential-energy surfaces. In this work, we explore how these discontinuities arise in periodic systems, their implications, and possible ways of controlling them. In addition, we present a fully periodic Divide-Expand-Consolidate second-order Møller–Plesset approach using an attenuated resolution-of-the-identity approximation for the electron repulsion integrals and a convenient class to handle translation-symmetric tensors in block-Toeplitz format.
DOI: 10.6084/m9.figshare.12851018
title: High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by <i>HK1</i> mutation

description: The hexokinase 1 (<i>HK1</i>) gene encodes one of the four human hexokinases that play essential roles in glucose metabolism. Recently, several cases of E847K mutation in the <i>HK1</i> gene were reported to cause inherited retinal dystrophy. The purpose of this study was to identify the phenotypical characteristics of patients with a recurrent E847K mutation in the <i>HK1</i> gene. Three generations of one family with autosomal dominant retinitis pigmentosa were examined. Whole exome sequencing was performed on the DNA. Fundus imaging by an adaptive optics fundus camera was used to obtain high-resolution photoreceptor images. Fundus examination of the proband showed degeneration of the mid-peripheral retina, and SD-OCT images showed an absence of the ellipsoid zone (EZ) and interdigitation zone (IZ) in the parafovea and more peripherally. SD-OCT images of the mother of the proband showed an absence of the EZ and IZ, and fundus autofluorescence images showed hypo-autofluorescence surrounding the macular region. One daughter of the proband had only mild night blindness, however, the density of the cone photoreceptors was reduced in the parafoveal region. Whole exome sequencing identified a heterozygous variant, E847K, in the <i>HK1</i> gene. This variant was found to co-segregate with the disease in three family members. Although the systemic phenotypes were found to be associated with the <i>HK1</i> mutations, only the E847K mutation can cause a non-syndromic photoreceptor degeneration. Our study strengthened the hypothesis that the amino acid E847 might play a critical role in the maintenance of the morphology and function of the photoreceptors.
DOI: 10.6084/m9.figshare.12851018.v1
title: High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by <i>HK1</i> mutation

description: The hexokinase 1 (<i>HK1</i>) gene encodes one of the four human hexokinases that play essential roles in glucose metabolism. Recently, several cases of E847K mutation in the <i>HK1</i> gene were reported to cause inherited retinal dystrophy. The purpose of this study was to identify the phenotypical characteristics of patients with a recurrent E847K mutation in the <i>HK1</i> gene. Three generations of one family with autosomal dominant retinitis pigmentosa were examined. Whole exome sequencing was performed on the DNA. Fundus imaging by an adaptive optics fundus camera was used to obtain high-resolution photoreceptor images. Fundus examination of the proband showed degeneration of the mid-peripheral retina, and SD-OCT images showed an absence of the ellipsoid zone (EZ) and interdigitation zone (IZ) in the parafovea and more peripherally. SD-OCT images of the mother of the proband showed an absence of the EZ and IZ, and fundus autofluorescence images showed hypo-autofluorescence surrounding the macular region. One daughter of the proband had only mild night blindness, however, the density of the cone photoreceptors was reduced in the parafoveal region. Whole exome sequencing identified a heterozygous variant, E847K, in the <i>HK1</i> gene. This variant was found to co-segregate with the disease in three family members. Although the systemic phenotypes were found to be associated with the <i>HK1</i> mutations, only the E847K mutation can cause a non-syndromic photoreceptor degeneration. Our study strengthened the hypothesis that the amino acid E847 might play a critical role in the maintenance of the morphology and function of the photoreceptors.
DOI: 10.6084/m9.figshare.12851015.v1
title: Genomic analysis of adult case of ocular surface giant congenital melanocytic nevus and associated clinicopathological findings

description: Conjunctival nevi are the most common tumor of the ocular surface. There are some rare reports of so-called ‘giant’ conjunctival nevi. We report a case of a 47-year-old female with a cutaneous and ocular surface giant congenital melanocytic nevus and describe her clinical course. This is a retrospective case report of a single patient. A 47-year-old female with a history of biopsy-proven periorbital congenital melanocytic nevus, with an associated giant conjunctival nevus presented for structural and functional rehabilitation. Serial surgeries were performed and excised tissue was sent for histopathological and genetic examination. The conjunctival nevus had a low tumor mutation burden, and of the 647 somatic mutations, only one occurred within a protein coding region, namely <i>NRAS</i> p.Gln61Arg. This is the first reported adult case including genomic analysis of an ocular surface giant congenital melanocytic nevus. The case shows a possible association between periorbital congenital melanocytic nevi and giant conjunctival nevi, and underscores the possible role that targeted drug therapies may have in malignant transformation of these conditions.
DOI: 10.6084/m9.figshare.12967126.v1
title: Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A&gt;G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy

description: Autosomal Dominant Optic Atrophy (ADOA) is caused by mutations in the Optic Atrophy 1 Gene which disrupts the OPA1 protein. This disruption affects the normal function of the protein; impairs fusion of the mitochondrial inner membrane; and prevents normal OPA1 protein degradation. These events cause damage in retinal ganglion cells that could affect the patients with symptoms ranging from none to legally blind. Our study identifies a missense variant mutation, c.1024 A &gt; G (p.K342E), in <i>OPA1</i> gene causing ADOA. Diagnosed clinically in three family members and the presence of this mutation was confirmed in two members by genetic testing. Pathogenic variants in OPA1 impact the secondary protein structure and function by causing non-conservative amino acid substitutions. We also modeled this mutation and compared it to the wild type using statistical mechanics. The proband’s pathogenic variant, c.1024 A &gt; G (p.K342E), is located in the GTPase domain of OPA1 and causes changes in the protein structure by affecting the oligomerization pattern thus resulting in ADOA. Identifying the pathogenic potential of the missense mutations in the OPA1 gene using neoteric protein modeling techniques would help in the early detection of ADOA in patients who have family history of blindness. This action would help in providing early follow up, possible treatment in the future, and genetic counseling. <b>Abbreviations:</b> ADOA: Autosomal Dominant Optic Atrophy; CYCS: Caspase Activator Cytochrome C; OPA1: Optic Atrophy Gene 1; RGC: Retinal Ganglion Cells; VUS: Variant of Uncertain Significance