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428 results for “Malformations”
Data from: Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study
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Data from: Subcortical heterotopic gray matter brain malformations: classification study of 107 individuals
Objective: To better evaluate the imaging spectrum of subcortical heterotopic grey matter brain malformations (SUBH), we systematically reviewed neuroimaging and clinical data of 107 affected individuals. Methods: SUBH is defined as heterotopic gray matter, located within the white matter between the cortex and lateral ventricles. Four large brain malformation databases were searched for individuals these malformations; data on imaging, clinical outcomes and results of molecular testing were systematically reviewed and integrated with all previously published subtypes to create a single classification system. Results: Review of the databases revealed 107 patients with SUBH, the large majority scanned during childhood (84%), including more than half before 4 years (59%). Although most individuals had cognitive and/or motor disability, 19% had normal development. Epilepsy was documented in 69%. Additional brain malformations were common and included abnormalities of the corpus callosum (65/102, 64%), and, often, brainstem or cerebellum (47/106, 44%). Extent of the HET (unilateral or bilateral) did not influence the presence or age of onset of seizures. Although genetic testing was not systematically performed in this group, the sporadic occurrence and frequent asymmetry suggests either postzygotic mutations or prenatal disruptive events. Several rare, bilateral forms are caused by mutations in genes associated with cell proliferation and polarity (EML1, TUBB, KATNB1, CENPJ, GPSM2). Conclusion: This study reveals a broad clinical and imaging spectrum of heterotopic malformations and provides a framework for their classification.
Data from: A theory for polymicrogyria and brain arteriovenous malformations in HHT
Hereditary hemorrhagic telangiectasia (HHT) is generally considered a disorder of endothelial dysfunction, characterized by the development of multiple systemic arteriovenous malformations (AVMs), including within the brain. However, there have recently been a number of reports correlating HHT with malformations of cortical development, of which polymicrogyria is the most common type. Here we present seven new cases demonstrating polymicrogyria in HHT, six of which demonstrate a brain AVM (bAVM) in close spatial proximity, with the aim of providing a common origin for the association. Upon reviewing patient genetics and imaging data and comparing with previously reported findings, we form two new conclusions: i) polymicrogyria in HHT appears exclusively associated with a subset of mutations in the transmembrane protein endoglin that is involved with blood flow related mechanotransduction signaling during angiogenesis, and ii) the polymicrogyria is characteristically unilateral, typically focal, and correlates with vascular regions experiencing low fluid shear stress during corticogenesis in utero. Integrating these with findings in the literature from genetics and molecular biology experiments, we propose a theory suggesting dominant-negative endoglin mutations may predispose focal, aberrant hypersprouting angiogenesis during corticogenesis that leads to the production of polymicrogyria. This hypoxic insult may further serve as the revealing trigger for later development of a spatially coincident bAVM. This hypothesis suggests an essential role for endoglin-mediated hemodynamic mechanotransduction in normal corticogenesis.
Data from: Looking at cerebellar malformations through text-mined interactomes of mice and humans
We have generated and made publicly available two very large networks of molecular interactions: 49,493 mouse-specific and 52,518 human-specific interactions. These networks were generated through automated analysis of 368,331 full-text research articles and 8,039,972 article abstracts from the PubMed database, using the GeneWays system. Our networks cover a wide spectrum of molecular interactions, such as bind, phosphorylate, glycosylate, and activate; 207 of these interaction types occur more than 1,000 times in our unfiltered, multi-species data set. Because mouse and human genes are linked through an orthological relationship, human and mouse networks are amenable to straightforward, joint computational analysis. Using our newly generated networks and known associations between mouse genes and cerebellar malformation phenotypes, we predicted a number of new associations between genes and five cerebellar phenotypes (small cerebellum, absent cerebellum, cerebellar degeneration, abnormal foliation, and abnormal vermis). Using a battery of statistical tests, we showed that genes that are associated with cerebellar phenotypes tend to form compact network clusters. Further, we observed that cerebellar malformation phenotypes tend to be associated with highly connected genes. This tendency was stronger for developmental phenotypes and weaker for cerebellar degeneration.
Data from: Environmental enrichment normalizes hippocampal timing coding in a malformed hippocampus
Neurodevelopmental insults leading to malformations of cortical development (MCD) are a common cause of psychiatric disorders, learning impairments and epilepsy. In the methylazoxymethanol (MAM) model of MCDs, animals have impairments in spatial cognition that, remarkably, are improved by post-weaning environmental enrichment (EE). To establish how EE impacts network-level mechanisms of spatial cognition, hippocampal in vivo single unit recordings were performed in freely moving animals in an open arena. We took a generalized linear modeling approach to extract fine spike timing (FST) characteristics and related these to place cell fidelity used as a surrogate of spatial cognition. We find that MAM disrupts FST and place-modulated rate coding in hippocampal CA1 and that EE improves many FST parameters towards normal. Moreover, FST parameters predict spatial coherence of neurons, suggesting that mechanisms determining altered FST are responsible for impaired cognition in MCDs. This suggests that FST parameters could represent a therapeutic target to improve cognition even in the context of a brain that develops with a structural abnormality.
Data from: Insights in the diagnosis of a retinal arteriovenous malformation
<p class="HoofdtekstA"><b>Objective: </b>To describe a patient with vitreous hemorrhage due to peripheral retinal ischemia and neovascularization, who was diagnosed with an underlying retinal arteriovenous malformation.</p> <p class="HoofdtekstA"><b>Methods:</b> A 15-year old girl presented with sudden-onset painless visual loss in the right eye. She underwent a full ophthalmologic work-up.</p> <p><b>Results: </b>BCVA was less than 20/400 in the right eye, 20/20 in the left eye. Intraocular pressure and anterior segment examination were unremarkable. Fundoscopy revealed an impenetrable vitreous hemorrhage in the right eye. The left eye was completely unremarkable. Examination during a 23-gauge pars plana vitrectomy showed dilated, tortuous arteriovenous vessels extending from the optic disc and peripheral neovascularization. A clinical diagnosis of retinal arteriovenous malformation was made. During surgery, a peripheral retinal photocoagulation was completed to avoid rebleeding. During the post-operative period, a fluorescein angiography demonstrated additional macular microangiopathy and diffuse retinal nonperfusion in the periphery. MRI brain revealed no cerebral or orbital vascular anomaly, confirming a retinal arteriovenous malformation group 1.</p> <p class="HoofdtekstA"><b>Conclusion: </b>Retinal arteriovenous malformations are thought of to be stable over time. However complications such as ischemia, neovascularization and vitreous hemorrhage might occur. Observation is warranted. As such, timely treatment can be offered to avoid complications.</p>
Figures 2–3 in Malformed pedipalp finger dentition of the scorpion Superstitionia donensis (Scorpiones: Superstitioniidae)
Figures 2–3: Denticle edge of chelal movable fingers showing arrangement of denticles. 2. left (malformed) movable finger. 3. right (normal) movable finger.
Figures 1-8 in Unusual teratological cases in Scarabaeidae (Coleoptera: Scarabaeoidea): two specimens with multiple malformations
Figures 1-8. Amithao decemguttatus (Waterhouse). 1. Normal specimen, dorsal view. 2-3. Head of normal specimen, dorsal and ventral views. 4. Elytral apex of normal specimen. 5. Malformed specimen, dorsal view. 6-7. Head of malformed specimen, dorsal and ventral views. 8. Elytral apex of malformed specimen. Scale bars for figures 1 and 5 = 5 mm; for figures 2, 3, 4, 6, 7 and 8 = 2 mm. / 1. Espécimen normal, vista dorsal. 2-3. Cabeza de espécimen normal, vistas dorsal y ventral. 4. Ápice elitral de espécimen normal. 5. Espécimen malformado, vista dorsal. 6-7. Cabeza de espécimen malformado, vistas dorsal y ventral. 8. Ápice elitral de espécimen malformado. Barras de escala para las figuras 1 y 5 = 5 mm; para las figuras 2, 3, 4, 6, 7 y 8 = 2 mm.
Fig. 13 in A new type of shell malformation caused by epizoans in Late Jurassic ammonites from Central Russia
Fig. 13. Phosphatic layer on the surface of the craspeditid ammonite Kachpurites fulgens (Trautschold, 1861) shell from the Late Volgian, K. fulgens Zone, Eganovo locality, Moscow region, Central Russia. Specimen MSU 118/17) with fragments of a thin brown phosphate layer on the surface of the shell (presumably remnants of the periostracum) in lateral (A) and ventral (B) views. A narrow dark band is visible on the venter (arrows).
Evaluation of Clinical application of sclerotherapy combined with oral sirolimus in the treatment of tongue microcystic lymphatic malformation in children:A Randomized Controlled Trial
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Calcium isotope ratios of malformed foraminifera reveal biocalcification stress preceded Oceanic Anoxic Event 2
<p>These data include bulk carbonate calcium, oxygen and carbon isotope data from Gubbio, Italy and the Angus Aristocrat Core from the Western Interior Seaway in Colorado, USA as well as foraminiferal calcium, oxygen and carbon isotope data from Gubbio, Italy. All calcium isotope data were generated using a high-precision Thermal Ionization Mass Spectrometer method. Carbon and oxygen isotope data were generated using an Isotope Ratio Mass Spectrometer.</p>
Efficacy & Safety of LOBO™ Vascular Occlusion Device for Embolization of Pulmonary Arteriovenous Malformations
ClinicalTrials.gov study NCT06735976. IPD Sharing: YES. Countries: 1. Publications: 0.
NASHA/Dx as a Perianal Implant for the Treatment of Persistent Fecal Incontience After Anorectal Malformation
ClinicalTrials.gov study NCT03746834. IPD Sharing: NO. Countries: 0. Publications: 3.
Monitor the Incidence of Congenital Malformations in Infants of Women Who Have Been Treated With Ganirelix (Orgalutran®)(Study 38644)(P05966)(COMPLETED)
ClinicalTrials.gov study NCT00724789. IPD Sharing: Not stated. Countries: 0. Publications: 1.
The Role of CSF in Chiari II Brain Malformation
ClinicalTrials.gov study NCT06560788. IPD Sharing: NO. Countries: 0. Publications: 14.
In Situ Injection of Anti-angiogenics in Patients With Brain Arteriovenous Malformations Not Eligible for Exclusion Treatment
ClinicalTrials.gov study NCT07075757. IPD Sharing: YES. Countries: 1. Publications: 0.
Alpelisib in Pediatric and Adult Patients With Lymphatic Malformations Associated With a PIK3CA Mutation.
ClinicalTrials.gov study NCT05948943. IPD Sharing: YES. Countries: 8. Publications: 0.
Long-term Outcome in Patients With Anorectal Malformations
ClinicalTrials.gov study NCT02624232. IPD Sharing: Not stated. Countries: 0. Publications: 41.
Treating Arteriovenous Malformation With Stereotactic Radiosurgery Using CT Angiography for Treatment Planning
ClinicalTrials.gov study NCT03559556. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Systemic and Local Diffusion of Ethanol After Administration of Ethanol 96% Formulated in a Gel and Ethanol 98% Solution by the Percutaneous Route, in Patients With Congenital Venous Malformations:Pha
ClinicalTrials.gov study NCT00462462. IPD Sharing: Not stated. Countries: 2. Publications: 0.
ScienceDex guides
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These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
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.