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428 results for “malformation”
The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation
<p>This dataset comprises likely pathogenic variants identified through next-generation sequencing (NGS) using a multigene panel (237 genes associated with hearing loss), as well as clinical exome sequencing (TruSightOne Sequencing Panel). Raw data obtained during variant validation using Sanger sequencing method are also included. Furthermore, audiometric data are attached, from which the average air-conduction thresholds for ears with EVA malformation were determined.</p> <p> </p> <p><strong>Abstract manuscripts: </strong></p> <p>The most frequently observed congenital inner ear malformation is enlarged vestibular aqueduct (EVA). It is often accompanied with incomplete partition type 2 (IP2) of the cochlea and a dilated vestibule, which together constitute Mondini malformation. Pathogenic SLC26A4 variants are considered the major cause of inner ear malformation but the genetics still needs clarification. The aim of this study was to identify the cause of EVA in patients with hearing loss (HL). Genomic DNA was isolated from HL patients with radiologically confirmed bilateral EVA (n = 23) and analyzed by next generation sequencing using a custom HL gene panel encompassing 237 HL-related genes or a clinical exome. The presence and segregation of selected variants and the CEVA haplotype (in the 5′ region of SLC26A4) was verified by Sanger sequencing. Minigene assay was used to evaluate the impact of novel synonymous variant on splicing. Genetic testing identified the cause of EVA in 17/23 individuals (74%). Two pathogenic variants in the SLC26A4 gene were identified as the cause of EVA in 8 of them (35%), and a CEVA haplotype was regarded as the cause of EVA in 6 of 7 patients (86%) who carried only one SLC26A4 genetic variant. In two individuals with a phenotype matching branchio-oto-renal (BOR) spectrum disorder, cochlear hypoplasia resulted from EYA1 pathogenic variants. In one patient, a novel variant in CHD7 was detected. Our study shows that SLC26A4, together with the CEVA haplotype, accounts for more than half of EVA cases. Syndromic forms of HL should also be considered in patients with EVA. We conclude that to better understand inner ear development and the pathogenesis of its malformations, there is a need to look for pathogenic variants in noncoding regions of known HL genes or to link them with novel candidate HL genes.</p>
Dataset related to aticle "Additive Fabrication of a Vascular 3D Phantom for Stereotactic Radiosurgery of Arteriovenous Malformations"The database contains 3D models in STL file format of a patient-specific brain arteriovenous malformation phantom reconstructed from computed tomography scans.
<p><em>The database contains 3D models in STL file format of a patient-specific brain arteriovenous malformation phantom reconstructed from computed tomography scans.</em></p>
Dataset for "Quantification of Muscle Fiber Malformations Using Edge Detection to Investigate Chronic Wound Healing"
<p>Primary images, spreadsheets and files for "Quantification of Muscle Fiber Malformations Using Edge Detection to Investigate Chronic Wound Healing"</p>
Figure 1 in Two cases of unclear hindlimb malformation in Bombina variegata
Figure 1. Observed individuals of Bombina variegata with a hind limb malformations from Shëndelli Mts., Albania: (A) ventral view, (B) dorsal view; and Lacul Poiana Mărului, Romania: (C) ventral view, (D) dorsal view.
Figure 1 in Malformed pedipalp finger dentition of the scorpion Superstitionia donensis (Scorpiones: Superstitioniidae)
Figure 1: Dorsal aspect of adult male Superstitionia donensis with aberrant pedipalp finger dentition.
Figures 9-20 in Unusual teratological cases in Scarabaeidae (Coleoptera: Scarabaeoidea): two specimens with multiple malformations
Figures 9-20. Megaceras jason (Fabricius). 9-10. Normal specimen, dorsal and lateral views. 11. Antenna of normal specimen. 12. Wing of normal specimen. 13. Scutellum of normal specimen. 14. Elytral apex and stridulatory area of normal specimen. 15. Malformed specimen, dorsal view. 16. Malformed specimen, lateral view. 17. Antenna of malformed specimen. 18. Wing of malformed specimen. 19. Scutellum of malformed specimen. 20. Elytral apex and stridulatory area of malformed specimen. Scale bars for figures 9, 10, 12, 15, 16 and 18 = 10 mm; for figures 11, 13, 14, 17, 19 and 20 = 2 mm. / 9. Espécimen normal, vistas dorsal y lateral. 11. Antena de espécimen normal. 12. Ala de espécimen normal. 13. Escutelo de espécimen normal. 14. Ápice del élitro y área estriduladora de espécimen normal. 15-16. Espécimen malformado, vistas dorsal y lateral. 17. Antena de espécimen malformado. 18. Ala de espécimen malformado. 19. Escutelo de espécimen malformado. 20. Ápice elitral y área estriduladora de espécimen malformado. Barras de escala para las figuras 9, 10, 12, 15, 16 y 18 = 10 mm; para las figuras 11, 13, 14, 17, 19 y 20 = 2 mm.
Fig. 11 in A new type of shell malformation caused by epizoans in Late Jurassic ammonites from Central Russia
Fig. 11. SEM photographs of the pits on the craspeditid ammonite Kachpurites fulgens (Trautschold, 1861) shells from the Late Volgian, Kachpurites fulgens Zone, Eganovo (A) and Mnevniki (B) localities, Moscow region, Central Russia. A. MSU 118/1. Transverse (A1, A2) and longitudinal (A3, A4) cross-sections of the shell layers in the pit area. The bending of shell wall inside the pit is clearly visible. B. MSU 118/9. The phosphatic mineral inside the pit (B1) and the tubercle (reflection of the pit) (B2) located on the dorsal side of the specimen.
Fig. 10 in A new type of shell malformation caused by epizoans in Late Jurassic ammonites from Central Russia
Fig. 10. The pits on the aragonitic shell layers of the craspeditid ammonite Kachpurites fulgens (Trautschold, 1861) from the Late Volgian, Kachpurites fulgens Zone, Mnevniki, Moscow region, Central Russia; MSU 118/10. A. Body chamber with slightly dissolved shell layers. General view in ventro-lateral (A1), ventral (A2), and dorsal (A3) views; on the dorsal side the small tubercle is visible, which reflect the pit on the previous whorl. B. Two pits on the specimen, SEM photograph. C. Two pits on the specimen, optical binocular microscope photographs.
Fig. 6 in A new type of shell malformation caused by epizoans in Late Jurassic ammonites from Central Russia
Fig. 6. Craspeditid ammonite Kachpurites fulgens (Trautschold, 1861) from the Late Volgian, Kachpurites fulgens Zone, Moscow region, Eganovo locality, Central Russia; shell with pits and deformed growth lines, MSU 118/1. A. General lateral view. B. Dorsal view, two tubercles located on the dorsal side of the body chamber, reflecting pits which are located on the previous shell whorl. C. The pits and deformed growth lines, which are related with pits, on the lateral surface of the specimen. D. Outer shell layer with phosphatic mineral inside pits and curved growth lines connected with these pits. Photographs (A, B, C1, D1), explanatory drawings (C2, D2).
Fig. 9 in A new type of shell malformation caused by epizoans in Late Jurassic ammonites from Central Russia
Fig. 9. Craspeditid ammonites Kachpurites fulgens (Trautschold, 1861) from the Late Volgian, Kachpurites fulgens Zone, Moscow region, Central Russia, Eganovo (A, B) and Mnevniki (C, D) localities; shells with pits and epizoans, lateral (A1, B1, C, D) and dorsal (A2, B2) views. A. MSU 118/7, abnormal " scaphitoid" shell shape. There are several pits on the ventral side of the shell (A2). B. MSU 118/16, fragment of the abnormal shell. The fragment of bivalve shell which caused distortion of the shell growth can be seen on the dorsal side (B2). There are no pits on this specimen. C. MSU 118/8, body chamber with pits on both sides of the shell. D. MSU 118/9, fragment of the body chamber with pits, many of them are merged with each other.
Fig. 7 in A new type of shell malformation caused by epizoans in Late Jurassic ammonites from Central Russia
Fig. 7. The pits with preserved phosphatic remnants on the shell of craspeditid ammonite Kachpurites fulgens (Trautschold, 1861) from the Late Volgian, Kachpurites fulgens Zone, Moscow region, Eganovo locality, Central Russia; MSU 118/1. A, B. Three pits with phosphatic filling on the well-preserved surface of the specimen. C, D. Transverse cross-sections of the two pits with phosphatic remnants located on the well-preserved part of the shell of the specimen. Note the thin outer prismatic and thick nacreous layers. The photos were taken using an optical binocular microscope.
Fig. 5 in A new type of shell malformation caused by epizoans in Late Jurassic ammonites from Central Russia
Fig. 5. Craspeditid ammonite Kachpurites fulgens (Trautschold, 1861) from the Late Volgian, Kachpurites fulgens Zone, Moscow region, Eganovo locality, Central Russia; shell structure and chemical composition of the filling of pits, MSU 118/1. A, B. Aragonite layer of the shell. C. EDS (Energy Dispersive X-ray Spectroscopy) analysis of the brown mineral in the pit on the surface of specimen (asterisk in B).
Fig. 8 in A new type of shell malformation caused by epizoans in Late Jurassic ammonites from Central Russia
Fig. 8. Craspeditid ammonites Kachpurites fulgens (Trautschold, 1861) from the Late Volgian, Kachpurites fulgens Zone, Moscow region, Central Russia, Mnevniki (A) and Eganovo (B−E) locality; shells with pits. A. MSU 118/2, fully preserved body chamber with pits, which are clearly visible not far from the aperture; lateral view. B. MSU 118/3, shell with abnormal constriction on the body chamber; in ventral (B1) and lateral (B2) views. C. MSU 118/4, shell with fully preserved body chamber; in lateral (C1) and ventral (C2) views. There are abnormally small lateral attachment scars (on the top of the C1) and pits on the apertural part of the shell. D. MSU 118/5, shell without aperture and with pits which are located ventro-laterally; lateral view. E. MSU 118/6, body chamber fragment without aperture and phragmocone; ventral view (E1), enlarged view of the pit (E2). There is only one relatively large pit on this fragment.
Fig. 12 in A new type of shell malformation caused by epizoans in Late Jurassic ammonites from Central Russia
Fig. 12. Clusters of pits on the surface of the craspeditid ammonite Kachpurites fulgens (Trautschold, 1861) shell from the Late Volgian, Kachpurites fulgens Zone, Eganovo ocality, Moscow region, Central Russia, MSU 118/1. A. General view, three clusters which repeatedly occurred on the shell marked by lines: ventro-lateral and dorso-lateral clusters marked by dotted line, mid-lateral cluster marked by solid line. B. Two groups of pits on the anterior ventro-lateral portion of the shell. They are very similar to each other and likely were formed by the same epizoans during the subsequent stages of shell growth.
Fig. 3 in A new type of shell malformation caused by epizoans in Late Jurassic ammonites from Central Russia
Fig. 3. Upper Volgian strata in Eganovo locality. Three subzones of Kachpurites fulgens Zone. The thickness of all layers is about 1.4 m. The traces on the surface of the layer have been left by the excavation knife.
Fig. 2 in A new type of shell malformation caused by epizoans in Late Jurassic ammonites from Central Russia
Fig. 2. Stratigraphic column of the localities. A. Mnevniki, Moscow. B. Eganovo, Moscow area. The braces mark the horizon from which the described ammonites have been collected. Ammonite zones (see Rogov and Starodubtseva 2014). The total thickness of the layers is about 2 m.
Fig. 4 in A new type of shell malformation caused by epizoans in Late Jurassic ammonites from Central Russia
Fig. 4. The circular diagram of the frequency of the genera distribution in Kachpurites fulgens Zone.
Fig. 1 in A new type of shell malformation caused by epizoans in Late Jurassic ammonites from Central Russia
Fig. 1. Map of Moscow area with localities: 1, Eganovo (55°32'08.28" N; 38°03'10.47" E); 2, Mnevniki (55°46'4.12" N; 37°28'4.67" E).
Fig. 4 in International Journal for Parasitology: Parasites and Wildlife Outbreak of parasite-induced limb malformations in a declining amphibian species in Colorado
Fig. 4. (A) Excysted metacercaria of Ribeiroia ondatrae from an infected frog; (B) Rams horn snails (Helisoma trivolvis) function as first intermediate hosts for multiple trematode species, including Ribeiroia ondatrae. Several of these snails have egg masses on their shells, which can be common in the spring.
Fig. 3 in International Journal for Parasitology: Parasites and Wildlife Outbreak of parasite-induced limb malformations in a declining amphibian species in Colorado
Fig. 3. Whole-body ventrodorsal Micro-CT scans of three leopard frogs from SBN illustrating malformations caused by the trematode Ribeiroia ondatrae. Panels A–C present 3D reconstructions of the skeletons (ventral view) of each of the living frogs in the corresponding lower panels (D–F). For each, obviously abnormal portions of the skeleton are colored in red while supernumerary limb elements are colored in teal. (A) Frog with a severely rotated ilium on the left axis, a thickened femur, thickened tibiofibula (calcaneum) with a bony triangle, an extra bone at the base of the ischium, a supernumerary left hindlimb (polymelia) with a bony triangle in the tibiofibular; the right leg is missing all metatarsals and phalanges. (B) Frog with polymelia of the left leg, with two supernumerary femurs and two unidentified supernumerary bones near the ischium; both primary hind limbs appear to have reductions of the metatarsals and phalanges. (C) Frog with an extremely thickened femur (possibly fusion of multiple femurs) in the left hind limb, a double bony triangle in the tibiofibula, and an extra bone caudal to the ilium.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.