19 research outputs found
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
Purpose: Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluati
Characterization of an energy dispersive X-ray fluorescence imaging system based on a Micropattern Gaseous Detector
An Energy Dispersive X-ray Fluorescence (EDXRF) imaging system based
on a Micropattern Gas Detector has already shown good results for di erent
applications. An X-ray tube, a pinhole camera and a Micro-Hole and Strip
Plate (MHSP) based detector are the main components of the experimental
system. The detector uses an MHSP in a Xe atmosphere at 1 bar, acting as a
photon counting device, i.e., it is capable to record each single event retaining
the energy and the interaction position (2D-sensitive detector) information
of the incident photon, demonstrating to be a promising device for EDXRF
imaging applications. This work presents studies of energy resolution, energy
linearity and spatial resolution/elemental mapping as a function of image
magni cation of the system
Preparation of three-dimensional mammalian ovarian follicular cells and ovarian follicle culture systems in a biocompatible matrix
A process for encapsulating and immobilising mammalian stem cells, ovarian follicular cells, gametes, ovarian follicles or mammalian embryos which are able to auto-organise into three-dimensional structures in vitro, and express biological functions in a manner similar to that which is observed in the organism in vivo is described. The capsules are constituted by: a nucleus containing stem cells, ovarian follicular cells, gametes, ovarian follicles or mammalian embryos and/or a biocompatible and/or biodegradable polymer; a semi-permeable membrane constituted by a divalent or trivalent metal ion salt of alginic acid, optionally cross-linked on the inner and/or outer surface and/or on both surfaces, optionally vehicularising a second or more cellular species.; The cells and follicles prepared and cultivated using this methodology are used for the in vitro and/or in vivo production of peptides, proteins, antibodies, hormones and hormone precursors, metabolites and catabolites typical of these cellular structures, plasma membranes, nuclear membranes, cytoplasmic organelles, somatic cell nuclei or gametes and embryos
A follicle-like model by granulosa cell encapsulation in a barium alginate/protamine membrane
none11Granulosa cells from bovine and porcine ovaries were cultured either in monolayer or in follicle-like barium alginate capsules for 6 days. Morphological investigation by electron scanning microscopy indicated that culture in a three-dimensional (3D) system allows self-organization of sphericalpolyhedral shape cells. The luteinization index (progesterone:17-estradiol ratio) was significantly higher for monolayer cells than for the 3D cell culture system, confirming the results of morphological analysis and indicating more physiological growth. The encapsulated 3D culture system appears to be a promising way of obtaining in vitro maturation and development of follicles and oocytes.noneVIGO D.; VILLANI S.; FAUSTINI M.; ACCORSI P.A.; GALEATI G.; SPINACI M.; MUNARI E.; RUSSO V.; ASTI A.; CONTE U.; TORRE ML.VIGO D.; VILLANI S.; FAUSTINI M.; ACCORSI P.A.; GALEATI G.; SPINACI M.; MUNARI E.; RUSSO V.; ASTI A.; CONTE U.; TORRE ML
Preparation of three-dimensional mammalian ovarian follicular cells and ovarian follicle culture systems in a biocompatible matrix
Granulosa cells from bovine and porcine ovaries were cultured either in monolayer or in follicle-like
barium alginate capsules for 6 days. Morphological investigation by electron scanning microscopy
indicated that culture in a three-dimensional (3D) system allows self-organization of spherical–polyhedral
shape cells. The luteinization index (progesterone:17-estradiol ratio) was significantly higher
for monolayer cells than for the 3D cell culture system, confirming the results of morphological analysis
and indicating more physiological growth. The encapsulated 3D culture system appears to be a
promising way of obtaining in vitro maturation and development of follicles and oocytes
Follicle-like model by granulosa cell encapsulation in a barium alginate-protamine membrane
Granulosa cells from bovine and porcine ovaries were cultured either in monolayer or in follicle-like barium alginate capsules for 6 days. Morphological investigation by electron scanning microscopy indicated that culture in a three-dimensional (3D) system allows self-organization of spherical-polyhedral shape cells. The luteinization index (progesterone:17beta-estradiol ratio) was significantly higher for monolayer cells than for the 3D cell culture system, confirming the results of morphological analysis and indicating more physiological growth. The encapsulated 3D culture system appears to be a promising way of obtaining in vitro maturation and development of follicles and oocytes