cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.34810/data1295
title: Observational dataset for one year: east and west facades of a university building in Barcelona

description: This dataset presents 9596 photos of the East and West façades of a university building in Barcelona (Spain). Images were taken every hour for one year with two identical GoPro Hero cameras. The façades are composed of a grid of 28x7 windows in the East and 28x6 windows in the West. Every window has a portion of fixed glass and an operable part for natural ventilation, and mobile solar protections (roller shutters) that users can control manually. This dataset also includes the cropped images of the individual windows, a total of 1.6M images.
DOI: 10.6084/m9.figshare.29124763
title: Keratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report

description: Hereditary spastic paraplegia 15 (HSP15) is a rare genetic disease manifesting with progressive muscle spasticity and paralysis of the lower limbs (paraplegia) caused by mutations in the ZFYVE26 gene. When spastic paraplegia is accompanied by retinal degeneration and cognitive impairment, it is known as Kjellin syndrome. We report on ocular manifestations in a case with HSP15 and Kjellin syndrome. We follow a 26-year-old male patient with HSP15 for 6 years. His condition was confirmed by clinical exome sequencing. In addition to regular systemic follow-ups, we performed ophthalmic examinations that included best corrected visual acuity, color vision testing, stereo acuity, visual fields, fundus photography, fundus autofluorescence, optical coherence tomography (OCT), OCT angiography, and corneal topography. Genetic testing in the patient revealed homozygosity for the pathogenic variant c.2114dupC; p. (Glu706Ter) in the ZFYVE26. Although the variant is present in population databases and ClinVar, this is the first report of this variant in HSP15 affected patient. During follow-up the patient’s visual acuity declined. Ocular fundus findings comprised of slowly progressive retinal degeneration and a novel ocular phenotype in HSP15 – keratoconus. Corneal topography showed corneal thinning (thinnest location OD: 524 µm OS: 490 µm). Keratoconus was classified as RE: A1B2C0D1, LE: A3B4C1D3 according to Belin Keratoconus Staging System. We describe the clinical and ocular manifestations of a patient with HSP15 and Kjellin syndrome who was diagnosed with a pathogenic variant of ZFYVE26 gene. The patient developed keratoconus that to our knowledge is a novel ophthalmic phenotype in HSP15.
DOI: 10.6084/m9.figshare.29124763.v1
title: Keratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report

description: Hereditary spastic paraplegia 15 (HSP15) is a rare genetic disease manifesting with progressive muscle spasticity and paralysis of the lower limbs (paraplegia) caused by mutations in the ZFYVE26 gene. When spastic paraplegia is accompanied by retinal degeneration and cognitive impairment, it is known as Kjellin syndrome. We report on ocular manifestations in a case with HSP15 and Kjellin syndrome. We follow a 26-year-old male patient with HSP15 for 6 years. His condition was confirmed by clinical exome sequencing. In addition to regular systemic follow-ups, we performed ophthalmic examinations that included best corrected visual acuity, color vision testing, stereo acuity, visual fields, fundus photography, fundus autofluorescence, optical coherence tomography (OCT), OCT angiography, and corneal topography. Genetic testing in the patient revealed homozygosity for the pathogenic variant c.2114dupC; p. (Glu706Ter) in the ZFYVE26. Although the variant is present in population databases and ClinVar, this is the first report of this variant in HSP15 affected patient. During follow-up the patient’s visual acuity declined. Ocular fundus findings comprised of slowly progressive retinal degeneration and a novel ocular phenotype in HSP15 – keratoconus. Corneal topography showed corneal thinning (thinnest location OD: 524 µm OS: 490 µm). Keratoconus was classified as RE: A1B2C0D1, LE: A3B4C1D3 according to Belin Keratoconus Staging System. We describe the clinical and ocular manifestations of a patient with HSP15 and Kjellin syndrome who was diagnosed with a pathogenic variant of ZFYVE26 gene. The patient developed keratoconus that to our knowledge is a novel ophthalmic phenotype in HSP15.
DOI: 10.6084/m9.figshare.29147653
title: Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)

description: To describe a family with a previously unreported maculopathy across three generations. This retrospective chart study describes three patients from three generations of a non-consanguineous Dutch family, with a distinctive maculopathy. All three patients underwent extensive ophthalmic examinations and multimodal imaging including best-corrected visual acuity, fundus photography, spectral-domain optical coherence tomography, fundus autofluorescence imaging, and full-field electroretinography (ffERG). Genetic analyses included next-generation sequencing, whole-exome sequencing, and single nucleotide polymorphism arrays. Three affected family members had a history of low visual acuity and congenital nystagmus, in combination with sharply demarcated areas of chorioretinal atrophy in the macula, which developed from early childhood. The two adult patients who underwent ffERG had cone and rod responses within normal limits, suggesting a central condition with a normally functioning retina extending beyond the lesions. No (likely) pathogenic variants in the known disease associated genes were found through extensive genetic analysis. Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM) is a striking hereditary maculopathy that leads to progressive central vision loss. Future studies may provide additional insights into the genetic basis and underlying mechanisms of this remarkable clinical picture.
DOI: 10.6084/m9.figshare.29147653.v1
title: Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)

description: To describe a family with a previously unreported maculopathy across three generations. This retrospective chart study describes three patients from three generations of a non-consanguineous Dutch family, with a distinctive maculopathy. All three patients underwent extensive ophthalmic examinations and multimodal imaging including best-corrected visual acuity, fundus photography, spectral-domain optical coherence tomography, fundus autofluorescence imaging, and full-field electroretinography (ffERG). Genetic analyses included next-generation sequencing, whole-exome sequencing, and single nucleotide polymorphism arrays. Three affected family members had a history of low visual acuity and congenital nystagmus, in combination with sharply demarcated areas of chorioretinal atrophy in the macula, which developed from early childhood. The two adult patients who underwent ffERG had cone and rod responses within normal limits, suggesting a central condition with a normally functioning retina extending beyond the lesions. No (likely) pathogenic variants in the known disease associated genes were found through extensive genetic analysis. Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM) is a striking hereditary maculopathy that leads to progressive central vision loss. Future studies may provide additional insights into the genetic basis and underlying mechanisms of this remarkable clinical picture.
DOI: 10.6084/m9.figshare.29152259
title: Patient reported outcomes in Usher Syndrome: a systematic review

description: Usher Syndrome (USH) is a leading cause of deaf-blindness and significantly impacts quality of life. With no cure, it is essential to focus on addressing functional impairments and emotional well-being in 10 affected individuals. A systematic search was conducted on MEDLINE, Embase, PsychInfo, CINHAL, Web of Science, and Cochrane Library until 4 September 2024 to identify studies on patient-reported outcomes (PROs) in USH. 27 studies (1,009 participants, mean age 47.0, 52.4% female) focused on USH, with 74.1% having type 2, 31.4% having type 1, and 6.8% having type 3. 18 studies used quantitative methods, and 9 were qualitative. The Glasgow Benefit Inventory (GBI) was the most common PRO measure, followed by the Nijmegen Cochlear Implant Questionnaire, Usher Lifestyle Survey (ULS), and SF-12 (2 studies each). Weighted GBI scores indicated moderate benefits, but lower physical scores highlighted ongoing limitations. The ULS found that participants needed equipment for information access and mobility assistance. Notably, no studies addressed vision-related interventions, and only one used a vision-specific PRO measure. Qualitative findings emphasized psychological well-being and social support. PRO data in USH is limited, underscoring the need for standardized measures and vision-related interventions. Ongoing challenges emphasize the need for multidisciplinary approaches to improve quality of life.
DOI: 10.6084/m9.figshare.29152259.v1
title: Patient reported outcomes in Usher Syndrome: a systematic review

description: Usher Syndrome (USH) is a leading cause of deaf-blindness and significantly impacts quality of life. With no cure, it is essential to focus on addressing functional impairments and emotional well-being in 10 affected individuals. A systematic search was conducted on MEDLINE, Embase, PsychInfo, CINHAL, Web of Science, and Cochrane Library until 4 September 2024 to identify studies on patient-reported outcomes (PROs) in USH. 27 studies (1,009 participants, mean age 47.0, 52.4% female) focused on USH, with 74.1% having type 2, 31.4% having type 1, and 6.8% having type 3. 18 studies used quantitative methods, and 9 were qualitative. The Glasgow Benefit Inventory (GBI) was the most common PRO measure, followed by the Nijmegen Cochlear Implant Questionnaire, Usher Lifestyle Survey (ULS), and SF-12 (2 studies each). Weighted GBI scores indicated moderate benefits, but lower physical scores highlighted ongoing limitations. The ULS found that participants needed equipment for information access and mobility assistance. Notably, no studies addressed vision-related interventions, and only one used a vision-specific PRO measure. Qualitative findings emphasized psychological well-being and social support. PRO data in USH is limited, underscoring the need for standardized measures and vision-related interventions. Ongoing challenges emphasize the need for multidisciplinary approaches to improve quality of life.
DOI: 10.15468/dl.ssvtv3
title: Occurrence Download

description: A dataset containing 4 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Gamochaeta pensylvanica",
 "Country is Congo, Democratic Republic of the",
 "HasCoordinate is true"
 ]
}

 The dataset includes 4 records from 2 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0007977-250920141307145/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.twj9du
title: Occurrence Download

description: A dataset containing 904190 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Continent is Africa",
 "IucnRedListCategory is VU",
 "OccurrenceStatus is Present"
 ]
}

 The dataset includes 904190 records from 1626 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0007916-250920141307145/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.ddqtcz
title: Occurrence Download

description: A dataset containing 121026 species occurrences available in GBIF matching the query:
{
 "and" : [
 {
 "or" : [
 "Country is Spain",
 "Country is Portugal"
 ]
 },
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "TaxonKey is Pinus nigra J.F.Arnold"
 ]
}

 The dataset includes 121026 records from 46 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0277006-200613084148143/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.42kuj3
title: Occurrence Download

description: A dataset containing 1011 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Crotalus basiliscus (Cope, 1864)"
 ]
}

 The dataset includes 1011 records from 54 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0033761-210914110416597/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.trkch6
title: Occurrence Download

description: A dataset containing 19 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Paranyctimene tenax (Bergmans, 2001)"
 ]
}

 The dataset includes 19 records from 2 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0077480-231120084113126/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.ms5s9z
title: Occurrence Download

description: A dataset containing 4 species occurrences available in GBIF matching the query:
{
 "and" : [
 "BasisOfRecord is Specimen",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "TaxonKey is Buxus pilosula Urb."
 ]
}

 The dataset includes 4 records from 2 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0240038-200613084148143/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.296xww
title: Occurrence Download

description: A dataset containing 7 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Argyroderma ringens L.Bolus"
 ]
}

 The dataset includes 7 records from 7 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0015615-240229165702484/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.ckrxu7
title: Occurrence Download

description: A dataset containing 4428 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Geometry POLYGON((120.29971949747888 23.017597066869115,121.58922073371805 23.017597066869115,121.58922073371805 24.307098303108283,120.29971949747888 24.307098303108283,120.29971949747888 23.017597066869115))",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "OccurrenceStatus is Present",
 "TaxonKey is Hydrophasianus chirurgus (Scopoli, 1786)"
 ]
}

 The dataset includes 4428 records from 7 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0265935-200613084148143/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.l893df
title: Occurrence Download

description: A dataset listing the 2753366 species recorded in GBIF matching the query:
{ }

 The dataset's 2753366 records were derived from 24627 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0001841-190813142620410/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.zqtfbw
title: Occurrence Download

description: A dataset containing 69231 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Lycoperdon perlatum Pers."
 ]
}

 The dataset includes 69231 records from 504 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0006765-250402121839773/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.oegome
title: Occurrence Download

description: A dataset containing 8182 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Tangara cyanicollis (d'Orbigny & Lafresnaye, 1837)",
 "HasGeospatialIssue is false",
 "HasCoordinate is true"
 ]
}

 The dataset includes 8182 records from 45 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0008980-160822134323880/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.v9gsgb
title: Occurrence Download

description: A dataset containing 13 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Dioscorea tamarisciflora Prain & Burkill"
 ]
}

 The dataset includes 13 records from 6 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0022110-240314170635999/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.pvrb4e
title: Occurrence Download

description: A dataset containing 1 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Periclimenes portoricensis Schmitt, 1933"
 ]
}

 The dataset includes 1 records from 1 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0014691-240216155721649/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.3gbhge
title: Occurrence Download

description: A dataset containing 741 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Dioscorea togoensis R.Knuth"
 ]
}

 The dataset includes 741 records from 50 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0022121-240314170635999/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.zmcjuz
title: Occurrence Download

description: A dataset containing 379 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Geometry POLYGON ((-103.57704162597656 20.55025171809666, -103.54820251464844 20.536106150486958, -103.51661682128906 20.53867816920884, -103.48228454589844 20.546393965819046, -103.46443176269531 20.49752068193755, -103.49327087402344 20.451205295082914, -103.53172302246092 20.437050584487814, -103.56742858886719 20.448631808301784, -103.6017608642578 20.45763882344362, -103.61686706542967 20.48337024145624, -103.61686706542967 20.516814631729183, -103.60313415527344 20.541893131781535, -103.57704162597656 20.55025171809666))",
 "HasCoordinate is true",
 {
 "or" : [
 "TaxonKey is Aves",
 "TaxonKey is Reptilia",
 "TaxonKey is Amphibia",
 "TaxonKey is Mammalia"
 ]
 }
 ]
}

 The dataset includes 379 records from 14 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0008978-171124123535762/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.d5bddn
title: Occurrence Download

description: A dataset containing 91174 species occurrences available in GBIF matching the query:
{
 "and" : [
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "TaxonKey is Catoptria Hübner, 1825"
 ]
}

 The dataset includes 91174 records from 297 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0014668-240216155721649/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.56seqs
title: Occurrence Download

description: A dataset containing 1792 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Homonoia riparia Lour."
 ]
}

 The dataset includes 1792 records from 73 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0027881-240321170329656/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.dh7wzx
title: Occurrence Download

description: A dataset containing 601 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Heterotheca inuloides Cass."
 ]
}

 The dataset includes 601 records from 43 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0008979-160311141623029/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.xsfa2v
title: Occurrence Download

description: A dataset containing 1959 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Geometry POLYGON((-87.56904 32.18643,-81.53371 32.18643,-81.53371 35.65676,-87.56904 35.65676,-87.56904 32.18643))",
 "HasGeospatialIssue is false",
 "TaxonKey is one of (Alisma subcordatum Raf., Carex frankii Kunth, Juncus effusus L., Ludwigia palustris (L.) Elliott, Cephalanthus occidentalis L., Ludwigia alternifolia L., Carex vulpinoidea Michx.)"
 ]
}

 The dataset includes 1959 records from 49 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0014670-240216155721649/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.kxps98
title: Occurrence Download

description: A dataset containing 11 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Huperzia nanchuanensis (Ching & H.S.Kung) Ching & H.S.Kung"
 ]
}

 The dataset includes 11 records from 7 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0027911-240321170329656/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.eoivaj
title: Occurrence Download

description: A dataset containing 10507 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Ricinus communis L."
 ]
}

 The dataset includes 10507 records from 361 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0008979-160822134323880/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.jkneq4
title: Occurrence Download

description: A dataset containing 8499 species occurrences available in GBIF matching the query:
{
 "and" : [
 {
 "and" : [
 "HasGeospatialIssue is false",
 "HasCoordinate is true",
 "OccurrenceStatus is Present",
 {
 "not" : {
 "BasisOfRecord" : [
 "is one of (Fossil, Living Specimen)"
 ]
 }
 }
 ]
 },
 "TaxonKey is Chloropsis cyanopogon (Temminck, 1830)"
 ]
}

 The dataset includes 8499 records from 25 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0050362-240314170635999/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.ehsjvr
title: Occurrence Download

description: A dataset containing 22 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Badis ruber Schreitmüller, 1923",
 "HasCoordinate is true",
 "HasGeospatialIssue is false"
 ]
}

 The dataset includes 22 records from 8 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0027870-240321170329656/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.he2mna
title: Occurrence Download

description: A dataset containing 1128 species occurrences available in GBIF matching the query:
{
 "and" : [
 "DatasetKey is Tropicos MO Specimen Data",
 "TaxonKey is Euphorbia heterophylla L."
 ]
}

 The dataset includes 1128 records from 1 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0008979-170826194755519/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.