A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum, fornix and septum pellucidum

We report a 16-week-gestation foetus obtained by voluntary abortion after prenatal diagnosis, in which a ring chromosome 22 was observed with deletion of the 22q13.3 region. A prenatal study of the amniotic fluid by standard chromosome technique with G bands and FISH (fluorescence in situ hybridisation) was performed. After the abortion, the anatomopathological study of the obtained foetus was carried out. Morphological and histological analysis of the foetus did not reveal severe physical abnormalities, although alterations of the nervous system were observed consisting of corpus callosum, fornix and septum pellucidum agenesia. It could be that the genes in this region that were involved in the development of the central nervous system were responsible for the alterations found in the morphological study. The wide range of manifestations observed in patients with this cytogenetic alteration is probably due to size differences in the deleted region.     

Confirmation of cortical lesions of progressive prosopagnosia by cerebral SPECT

We present the case of a 78 year old man admitted to the hospital with progressive memory disorder. Neuropsychological examination showed inability to recognize familiar faces (prosopagnosia). MRI documented cortical atrophy, which did not explain the neurological deficit. CT did not show abnormalities. Most patients with prosopagnosia present brain atrophy, as they are more than 65 years old. Scanning by SPECT revealed hypoperfusion in the right parietotemporal region, which was worse in a later examination.     

Peripapillary glial cells in the chick retina: A special glial cell type expressing astrocyte, radial glia, neuron, and oligodendrocyte markers throughout development

Peripapillary glial cells of the chick are a special type of glia, not only because of their position, forming a boundary between the retina on one side and the optic nerve head (ONH) and the pecten on the other, but also because although they have the same orientation and similar shape as the retinal Müller cell (a type of radial glia) and express common markers for these cells and astrocytes, they do not express glutamine synthetase (GS) or carbonic anhydrase C (CA-C), enzymes intensely expressed by Müller cells and astrocytes. In this study, we present further molecular characterization of these cells, using immunohistochemistry techniques. We show that peripapillary glial cells express a novel neuron antigen, 3BA8, that in the adult retina is located only in one neuron type (the amacrine cell) and in the inner plexiform layer (IPL). They also express an antigen specific to myelin and oligodendrocytes, MOSP, and a glial antigen, 3CB2, expressed by radial glia and astrocytes throughout the CNS. The study of the developmental expression of these three antigens in the peripapillary glial cell territory shows different spatiotemporal labeling patterns: 3CB2 and 3BA8 are expressed much earlier (embryonic days E3 and E5, respectively) than MOSP (E12), and during a developmental window (E6-E10) 3BA8 labels the peripapillary glial cells intensely and does not label the ONH or the optic nerve (ON), which are labeled later. The expression of 3CB2 is much more intense in the peripapillary glial cells than in Müller cells from early stages of development up to E16, and the expression of MOSP starts earlier in the peripapillary glial cells than in the Müller cells and is maintained with much higher intensity in the peripapillary glial cells throughout development. These findings show that Müller and peripapillary glial cells follow independent courses of differentiation, which together with the fact that the peripapillary glial cells express molecules typical of neurons, oligodendrocytes, radial glia, and astrocytes are evidence that peripapillary glial cells are a unique type of glia in the CNS.     

Pharyngeal globe and pharyngo-laryngeal reflux

The globus sensation is one of the most frequent complaints in a basic ENT clinic. The etiology is still unknown, although some hypotheses have been suggested such as: psychological abnormalities, esophageal and cricopharyngeal muscle disfunction and the laryngopharyngeal reflux. Laryngopharyngeal reflux is the most frequent pathology related to the globus feeling. We've tried in this study to determine the incidence of laryngopharyngeal reflux in a group of 30 patients with globus feeling. We found 26.7% of these patients with an abnormal pH monitoring test.     

Hexa-histidine tag as a novel alternative for one-step direct labelling of a single-chain Fv antibody fragment with 99m Tc

From genetic material of hybridoma cells, we have generated a recombinant single-chain antibody fragment (scFv antibody) specific to carcinoembryonic antigen (CEA), which can substitute an intact murine monoclonal immunoglobulin G1 (IgG1) antibody, also developed by our group, and used in clinical practice for many years. In this paper, we examine a novel one-step method for direct 99mTc labelling of a recombinant anti-CEA scFv fragment through a C-terminal peptide tag containing a six-histidine sequence. This C-terminal peptide tag does not affect antigen binding, and was employed as a strategy for the one-step method of direct 99mTc labelling of a recombinant antibody fragment, based on the criteria of Zamora and Rhodes (Zamora PO, Rhodes BA. Imidazoles as well as thiolates in proteins bind technetium-99m. Bioconj Chem 1992; 3: 493-498). This is a novel technique for the rapid labelling of molecules, suitable for in vivo trials. The method yields >95% labelling efficiency without major effects on biological or in vitro stability.     

A re-evaluation of fumagillin selectivity towards endothelial cells

We have re-evaluated the selectivity of fumagillin against endothelial cell proliferation and compared it to the reported selectivity of its potent analog TNP-470. We showed that fumagillin does not inhibit endothelial cell proliferation in a specific manner, but on the contrary it inhibits the proliferation of other cell types at the same range of concentrations. Furthermore, the IC50 values of fumagillin for endothelial cells are two orders of magnitude higher than those values reported for TNP-470 on endothelial cells; on the contrary, the IC50 value of fumagillin for human breast cancer MDA-MB231 cells is four orders of magnitude lower than the value reported for TNP-470 on the same cell line.