Search results for "abnormal"

Tbx1 regulates Vegfr3 and is required for lymphatic vessel development

2010

Defects in lymphangiogenesis are added to the broad clinical manifestations of DiGeorge syndrome, caused by deletion of the T box transcription factor Tbx1.

Microphthalmia, persistent hyperplastic hyaloid vasculature and lens anomalies following overexpression of VEGF-A188 from the αA-crystallin promoter

2007

Purpose During growth of the embryonic eye, dose- and site-specific expression of heparin-binding growth factors is critical for the formation of an appropriate vascular supply. Overexpression of vascular endothelial growth factor-A188 (VEGF-A188), a strongly heparin-binding, endothelial-specific mitogen, leads to severe disturbance of vascular and overall ocular morphology. This study aimed to evaluate the effects of VEGF-A188 overexpression on growth of ocular tissue components. Methods Stereological and immunohistochemical methods were employed to identify the vascular profiles, ocular tissue proportions, and cell types in VEGF-A188 transgenic mice and compare them with wild-type mice. R…

Long-Term Administration of High Dose Vitamin A to Rats Does Not Cause Fetal Malformations: Macroscopic, Skeletal and Physicochemical Finds

1996

A rat model was used to investigate whether high oral doses of vitamin A lead to fetal malformations and to what extent retinyl esters (RES) are transferred from the mother to the fetuses. Retinol and RES concentrations in plasma behave similarly in rats and humans. When high concentrations of vitamin A are administered, plasma retinol concentrations remain relatively constant, whereas plasma RES increased in parallel with the dose. To achieve an elevation from approximately 150 to > 1525 nmol x L(-1) in the experimental group before mating, female Ibm: RORO (spf) rats were fed a maintenance diet enriched with 15.2 x 10(3) retinol equivalents (RE) x kg(-1) at the start and increased stepwis…

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

2022

Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features can be inconclusive in mild and unusual WDSTS presentations with variable ID (mild to severe), facies (typical or not) and other associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Interpretation and classification of rare KMT2A variants can be challenging. A genome-wide DNA methylation episignature for KMT2A-related syndrome could allow functional classification of variants and provide insights into the pathoph…

Cervico-Oculo-Acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?

1990

A 7-year-old female child with phenotype of Cervico-Oculo-Acousticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acousticus syndrome. The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethali…

Sub-Riemannian geometry: one-parameter deformation of the Martinet flat case

1998

Pentamidine rescues contractility and rhythmicity in a Drosophila model of myotonic dystrophy heart dysfunction

2015

Up to 80% of individuals with myotonic dystrophy type 1 (DM1) will develop cardiac abnormalities at some point during the progression of their disease, the most common of which is heart blockage of varying degrees. Such blockage is characterized by conduction defects and supraventricular and ventricular tachycardia, and carries a high risk of sudden cardiac death. Despite its importance, very few animal model studies have focused on the heart dysfunction in DM1. Here, we describe the characterization of the heart phenotype in a Drosophila model expressing pure expanded CUG repeats under the control of the cardiomyocyte-specific driver GMH5-Gal4. Morphologically, expression of 250 CUG repeat…

Impact of monopolar and bipolar endometrial resection on abnormal uterine bleeding

2013

Study Objective. To compare two procedures for endometrial resection: resectoscopy with monopolar knife versus resectoscopy with bipolar knife. Patients and methods. 76 perimenopausal patients affected by DUB (Dysfunctional Uterine Bleeding), no longer wishing to remain pregnant and having failed to respond to pharmacological treatment, underwent endometrial ablation with monopolar loop (group A: 38 women) or bipolar loop (group B: 38 women). Operative parameters, complication rate, menstrual outcome were considered. Results. Operative time was no different between groups. The amount of distention fluid adsorbed was significantly higher in group A than in group B, and late cumulative compli…

Abnormal peripheral and central visual processing in migraine

2018

Sound induced flash illusion (SIFI) is an illusory cross modal (audio-visual) phenomenon critically dependent upon excitability of visual cortex. A recent study with SIFI confirmed hyperexcitability of visual cortex in migraine; patients with migraine show abnormality of chromatic perception. Here we explored the relationship between peripheral chromatic and central visual dysfunction in patients with migraine

Abnormal textures identification based on digital Hilbert optics methods: fundamental transforms and models

2018

The article presents the abnormal textures identification technology based on structural and statistical models of amplitude-phase images (APIm)– multidimensional data arrays (semantic models) and statistical correlation analysis methods using the generalized discrete Hilbert transforms (DHT)– 2D Hilbert (Foucault) isotropic (HTI), anisotropic (HTA) and total transforms – AP-analysis (APA) to calculate the APIm. The identified fragments of textures are obtained as examples of experimental observation of real mammograms contains areas of pathological tissues. The DHT based information technology as conceptual chart description is discussed and illustrated with DHO domain images. As additiona…