Search results for "Galen"
showing 10 items of 68 documents
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
2018
The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX, have been associated with intellectual disability (ID) and brain malformations. NFIB, however, has not previously been implicated in human disease. Here, we present a cohort of 18 individuals with mild ID and behavioral issues who are haploinsufficient for NFIB. Ten individuals harbored overlapping microdeletions of the chromosomal 9p23-p22.2 region, ranging in size from 225 kb to 4.3 Mb. Five additional subjects had point sequence variations c…
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
2015
Malformations of cortical development containing dysplastic neuronal and glial elements, including hemimegalencephaly and focal cortical dysplasia, are common causes of intractable paediatric epilepsy. In this study we performed multiplex targeted sequencing of 10 genes in the PI3K/AKT pathway on brain tissue from 33 children who underwent surgical resection of dysplastic cortex for the treatment of intractable epilepsy. Sequencing results were correlated with clinical, imaging, pathological and immunohistological phenotypes. We identified mosaic activating mutations in PIK3CA and AKT3 in this cohort, including cancer-associated hotspot PIK3CA mutations in dysplastic megalencephaly, hemimeg…
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of …
2022
Abstract Background Osteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous for female subjects and hemizygous for males) of the AMER1 gene, located at Xq11.2, and shows an X-linked pattern of transmission. Typical clinical manifestations include macrocephaly, characteristic facial features (frontal bossing, epicanthal folds, hypertelorism, depressed nasal bridge, orofacial cleft, prominent jaw), hearing loss and developmental delay. Males usually present a more severe phenotype than females and rarely survive. Diagnostic suspicion is based o…
Fistulous-type vein of Galen malformation phantom model for endovascular training and research.
2016
IntroductionVein of Galen malformation (VGM), a high-flow intracranial arteriovenous shunt, is among the most severe neurovascular diseases in childhood. In many cases untreated children die or survive only severely disabled. Endovascular embolization is the preferred treatment.ObjectiveTo develop a simple fistulous-type VGM phantom model for teaching and training of different endovascular treatment methods and to investigate new treatment options and devices.MethodsAn experimental in vitro pulsatile phantom model was developed imitating a high-flow fistulous-type VGM, which is typical, especially in the neonatal phase. Pressure measurements at different arterial sites were performed before…
Delayed and incomplete treatment may result in dural fistula development in children with Vein of Galen malformation
2017
The association of dural arteriovenous fistulas (DAVF) in children with Vein of Galen malformation (VGM) has recently been reported for the first time. In a larger series of cases treated with transarterial NBCA embolization, 30% had DAVF. We wanted to analyze the development of DAVF in our cohort of children with VGM and to evaluate whether their occurrence depends on different treatment timing and embolic materials. We analyzed 43 VGM cases treated with a combined transarterial and transvenous approach between 2003 and 2016. In our early series until 2011, we used coils solely in 21 children. Since 2012, 22 children were treated with the combination of coils and Onyx. In the early series…
Photocatalytic degradation enhancement in pickering emulsions stabilized by solid particles of bare TiO 2
2019
Pickering emulsions provide a new way to enhance the efficiency of photocatalytic degradation of water-insoluble pollutants. Indeed, the semiconductor solid particles dually act as the photocatalyst and stabilizer of the emulsion droplets whose size dramatically affects the photocatalytic reaction. The present work aims at the validation of this concept by using bare TiO 2 without any surface modification. Nanostructured TiO 2 has been prepared by a simple sol-gel process and characterized by X-ray diffraction, specific surface area analysis, scanning electron microscopy, and diffuse reflectance spectroscopy. The emulsions were prepared by using 1-methylnaphthalene (1-MN) as a model organic…
Study of Morphology of Reactive Dissolution Interface Using Fractal Geometry
1996
J. Pharm. Sci. ISI Document Delivery No.: VF662 Times Cited: 7 Cited Reference Count: 15 Tromelin, A Gnanou, JC Andres, C Pourcelot, Y Chaillot, B; International audience; The determination of reactive fractal dimension was carried out using two forms of the Noyes-Whitney equation, -dQ/dt = K(Q/Q(0))(DR/3) and -d Q/dt = K' R(DR-3) using the Richardson plot on the basis of previous data obtained by dissolution of an orthoboric acid powder. The correlation of the results provided by the two ways of calculation allows proposal of the hypothesis that dissolution begins on a specific population of reactive sites and probably promotes the formation of microporous volumes or cracks.
Influence of the parameters molecular structure and granularity on the compactibility of a powder
1995
Drug Dev. Ind. Pharm. ISI Document Delivery No.: RP128 Times Cited: 3 Cited Reference Count: 14 Andres, c ndiaye, a thomas, c tromelin, a chaillot, b pourcelot, y; International audience; The aim of this study was to determine whether it is possible to obtain better characterization of materials in order to find out if these one are suitable in Quality Assurance for direct tableting. We tried to show that a methodological approach combining chemical, physical and technological aspects could control the direct compression process. We chose orthoboric acid as a study model for the direct compression. From a chemical point of view, our findings show only one crystalline molecular structure (RX…
PETTERDITE, THE Cr-DOMINANT ANALOGUE OF DUNDASITE, A NEW MINERAL SPECIES FROM DUNDAS, TASMANIA, AUSTRALIA AND CALLENBERG, SAXONY, GERMANY
2000
Petterdite is a newly discovered hydrated lead chromium hydroxyl carbonate, the Cr 3+ -dominant analogue of dundasite, with a formula PbCr 2 (CO 3 ) 2 (OH) 4 ·H 2 O. The type locality is the Red Lead mine, on the Zeehan–Dundas mining field in northwestern Tasmania, Australia. The mineral also occurs in small amounts at the Callenberg nickel deposit, Saxony, Germany. Petterdite forms thin crusts made up of tiny platy crystals up to about 15 μm across, associated with crocoite and anglesite at the type locality, and with crocoite, cerussite, bindheimite, pyromorphite, and relict galena at Callenberg. The petterdite crusts are pale greyish to pinkish violet and non-fluorescent; they have an ea…
Distribution of trace elements in willemite from the Belgium non-sulphide deposits
2019
Samples of willemite (Zn2SiO4) mineralization from the historical non-sulphide Zn–Pb deposits of La Calamine (eastern Belgium) have been recovered from collections of the Geological Survey of Belgium. Textural and chemical analyses are used to evaluate the critical element distribution (Ge, In, Ga) and deportment. willemite occurs as a variety of types that continuously formed between the protore stage (sulphides) and the late supergene stage (carbonates and hydrated phases). Different types of willemite may be distinguished on the basis of their shape and zoning characteristics, supporting a polyphase non-sulphide mineralization after the protore stage. This is also marked by a significant…