Usefulness of carcinoembryonic antigen in pleural effusion diagnosis.
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Aged↗
Biomedical subjects
A Villa
Publications and source records attributed to A Villa.
Positivity of pleural fluid cytologic examination in transudative pleural effusions.
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Adolescent↗
Cases of contact dermatitis caused by ultrasonographic gel.
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Adult↗
Oncogene transgenic mice: an useful model to study in vivo the relationships between gangliosides and oncogenes.
Several studies have demonstrated that transfer of oncogenes in cultured cells reproducibly induces transmissible alterations in their ganglioside profile; the transfection of the same oncogene into different cell lines and the different localization of the oncogene product result in a different ganglioside expression. In the present study the modifications of the ganglioside pattern in mammary carcinomas induced in transgenic mice by the activated form of the rat neu oncogene have been investigated. Whereas control mammary tissues contain quite exclusively GM3, all neoplastic samples show a substantial decrease of this ganglioside, an accumulation in variable amount of GM3-derived species (GM1, GD3, GD1a, GD1b, GT and GQ) and the appearance of new, not yet identified, sialic acid containing molecules. Interestingly, three out of 10 tumors analyzed, even if histologically comparable to the others but with a larger dimension, show a significative difference as regard to the GM1, GD3 and GD1a content. Our data suggest that an activated oncogene may induce also in vivo a specific and transmissible alteration in the ganglioside pattern, but this distribution could be susceptible to further modifications during the tumor progression.
Animals↗
Microgravity and hypergravity effect on survival and reproduction of microinvertebrates.
Preliminary to carry out long-term experiments on the International Space Station (ISS) using living orgainisms, the capacity of the experimental organisms to cope with perturbations of gravity should be tested. Actually, animals have evolved under gravity, because on earth gravity force cannot be eluded, and several features that influence life-history traits may be affected by the presence of gravity. Among the other features, feeding efficiency may be affected by gravity if the animals feed by filtering suspended particles, creating currents that carry the particulate food to their mouth opening. In presence of gravity the food particles tend to sink to the bottom and filter-feeders must be able to suspend and collect the particles with some apparatus such as ciliary wreaths. It can be predicted that hypergravity, increasing the particle sedimentation rate, will reduce the animal filtering efficiency, while microgravity will increase filtering rate. Differently, some bacteriophagous animals do not possess structures to collect their food, but commonly live and move into sediment and feed on the bacteria upon encounter. Hypergravity will apply higher pressure on their bodies, and could force them to adhere to some surface and to reduce their displacement, and microgravity could impede adhesion to the surface and make food item encounters improbable. Thus, gravity perturbations may affect animal life-history traits, such as survival or fecundity, by influencing their feeding efficiency. In this study we exposed a filter-feeding organism (Macrotrachela quadricornifera, Rotifera Bdelloidea) and a bacteriophagous one (Panagrolaimus rigidus, Nematoda) to both microgravity and hypergravity to test their reproduction capacity under such stressful conditions, and their suitability as models for experiments on the ISS.
Animals↗
[Comparison of the multifactorial model as a hereditary mechanism of non-myoclonic generalized idiopathic epilepsy and partial idiopathic epilepsy].
OBJECTIVE AND METHODS: An experimental study about the predictions from the multifactorial threshold model created by Falconer is presented, assuming that this model may explain the genetic mechanisms underlying the family aggregation of idiopathic epilepsies. RESULTS: We failed to confirm the following predictions from the falconer model: decreased prevalence of disease in relatives, proportional to decreased family links, and the order of birth effect. An heredity greater than 100% was calculated which is concordant with the presence of at least a locus with a major gen affect. CONCLUSION: Our results reject the multifactorial threshold effect and suggest the presence of a major gen or Mendelian effect. An analysis of complex segregation is suggested for future studies.
Adolescent↗
Vasodilating in MR-angiography: a comparison of techniques.
PURPOSE: To verify the hypothesis that a drug that causes vasodilation can contribute to improvement in MRA spatial resolution. To test this hypothesis, a comparison was made between the images obtained using the high resolution time-of-flight (TOF HR 3D) technique and the TOF 3D MTC TONE technique. METHODS: From November 1993 to December 1994, we studied 40 patients, of which 20 patients (16 males and 4 females; average age of 10 years; range from 3 to 20 years) we examined after they had inhaled Isoflurane (experimental group), and 20 patients (16 males and 4 females; average age 9.7 years; range from 3 to 12 years) were examined with standard MRA (control group). RESULTS: The vasodilator in both HR MRA and MTC TONE MRA permits a better spatial visualization with respect to the clinical routine MRA. On the other hand, it is true that MTC TONE gives better visualization of the small vessels. DISCUSSION: In our experience, this preliminary study indicates that with respect to routine MR, the spatial resolution is notably increased when Isoflurane is used. The signal-to-noise ratio is increased but, moreover, the ability to visualize small vessels is increased. CONCLUSION: The preliminary results obtained in this study indicate that a pharmacological drugs is capable of increasing the vascular detail of MRA images of the intracranial vessels and that continued research this direction is called for.
Adolescent↗
Structural and functional basis for JAK3-deficient severe combined immunodeficiency.
Mutations of the Janus family kinase JAK3 have been found to be responsible for autosomal recessive severe combined immunodeficiency (SCID) in humans. We report here the analysis of four new unrelated patients affected by JAK3-deficient SCID. The genetic defects were heterogeneous and included a large intragenic deletion as well as different point mutations, leading to missense substitutions, early stop codons, or splicing defects. We performed a series of studies of the biochemical events induced by cytokines on lymphoblastoid B-cell lines obtained from these patients. Abnormalities in tyrosine phosphorylation of JAK3 in response to interleukin-2 (IL-2) and IL-4 were present in all patients. Accordingly, IL-2-mediated phosphorylation of STAT5 was also absent or barely detectable. On the contrary, in all cases, we could show reduced but clear phosphorylation of STAT6 upon IL-4 stimulation. In one patient carrying a single amino acid change (Glu481Gly) in the JH3 domain of JAK3, we observed partially conserved IL-2 responses resulting in reduced but detectable levels of JAK3 and STAT5 phosphorylation. Interestingly, the patient bearing this mutation developed a substantial number of circulating CD4(+)/CD45RO+ activated T lymphocytes that were functionally impaired. In two cases, patients' cells expressed JAK3 proteins with mutations in the JH2 pseudo-kinase domain. A single cysteine to arginine substitution (Cys759Arg) in this region resulted in high basal levels of constitutive JAK3 tyrosine phosphorylation unresponsive to either downregulation by serum starvation or cytokine-mediated upregulation. The characterization of the genetic defects and biochemical abnormalities in these JAK3-deficient patients will help define the role of JAK3 in the ontogeny of a competent immune system and may lead to a better understanding of the JAK3 functional domains.
B-Lymphocytes↗
Loose-patch recordings of single quanta at individual hippocampal synapses.
Synapses in the central nervous system are typically studied by recording electrical responses from the cell body of the postsynaptic cell. Because neurons are normally connected by multiple synaptic contacts, these postsynaptic responses reflect the combined activity of many thousands synapses, and it remains unclear to what extent the properties of individual synapses can be deduced from the population response. We have therefore developed a method for recording the activity of individual hippocampal synapses. By capturing an isolated presynaptic bouton inside a loose-patch pipette and recording from the associated patch of postsynaptic membrane, we were able to detect miniature excitatory postsynaptic currents ('minis') arising from spontaneous vesicle exocytosis at a single synaptic site, and to compare these with minis recorded simultaneously from the cell body. The average peak conductance at a single synapse was about 900 pS, corresponding roughly to the opening of 90 AMPA-type glutamate-receptor channels. The variability in this conductance was about 30%, matching the value reported for the neuromuscular junction. Given that our synapses displayed single postsynaptic densities (PSDs), this variability is larger than would be predicted from the random opening of receptor channels, suggesting that they are not saturated by the content of a single vesicle. Therefore the response to a quantum of neurotransmitter at these synapses is not limited by the number of available postsynaptic receptors.
Cells, Cultured↗
Sorting of two polytopic proteins, the gamma-aminobutyric acid and betaine transporters, in polarized epithelial cells.
The gamma-aminobutyric acid transporter (GAT-1) isoform of the gamma-aminobutyric acid and the betaine (BGT) transporters exhibit distinct apical and basolateral distributions when introduced into Madin-Darby canine kidney cells (Pietrini, G., Suh, Y. J., Edelman, L., Rudnick, G., and Caplan, M. J. (1994) J. Biol. Chem. 269, 4668-4674). We have investigated the presence of sorting signals in their COOH-terminal cytosolic domains by expression in Madin-Darby canine kidney cells of mutated and chimeric transporters. Whereas truncated GAT-1 (DeltaC-GAT) maintained the original functional activity and apical localization, either the removal (DeltaC-myc BGT) or the substitution (BGS chimera) of the cytosolic tail of BGT generated proteins that accumulated in the endoplasmic reticulum. Moreover, we have found that the cytosolic tail of BGT redirected apical proteins, the polytopic GAT-1 (GBS chimera) and the monotopic human nerve growth factor receptor, to the basolateral surface. These results suggest the presence of basolateral sorting information in the cytosolic tail of BGT. We have further shown that information necessary for the exit of BGT from the endoplasmic reticulum and for the basolateral localization of the GBS chimera is contained in a short segment, rich in basic residues, within the cytosolic tail of BGT.
Amino Acid Sequence↗
Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.
We present a case with a partial duplication 5p11-->5p13.3 resulting from a maternal ins (19,5)(p11;p11-p13.3). The diagnosis was confirmed by FISH and complement component determinations. The clinical picture was similar to those described in patients with complete duplication of the short arm and in some patients with partial 5p duplications, affecting at least band 5p13. A special significance of band 5p13 in the clinical severity of 5p duplications is discussed.
Abdomen↗
Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl.
We present a case of mosaic 5p tetrasomy. The mosaicism 46,XX/47,XX,+i(5p) was found at different ratios in blood lymphocytes, skin fibroblasts, and chondrocytes. The origin of the extra isochromosome was confirmed by FISH. The clinical picture corresponds to that described in trisomy 5p patients, although it was more severe than the two previously reported cases of mosaic 5p tetrasomy. No correlation between clinical severity and proportion of tetrasomic cells in blood or fibroblasts was found in these cases.
Abnormalities, Multiple↗
Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia.
We report on a patient whose clinical, radiologic, and histopathologic findings are compatible with the Piepkorn type of lethal short-limb osteochondrodysplasia, but who also showed multinucleated giant chondrocytes in cartilage. Multinucleated giant cells are an unusual finding in osteochondrodysplasias, having been reported in atelosteogenesis type I and boomerang dysplasia. This uncommon histopathologic finding and the clinical and radiographic findings strongly support the diagnosis of boomerang dysplasia in the present patient. Our patient supports the previously suggested existence of an entity including atelosteogenesis and boomerang dysplasia. If this is so, the current patient and that described by Piepkorn et al. [1977: Teratology 16:345-350] could represent the most severe clinical expression of that condition.
Cartilage↗
Hypothalamic-pituitary vascularization in pituitary stalk transection syndrome: is the pituitary stalk really transected? The role of gadolinium-DTPA with spin-echo T1 imaging and turbo-FLASH technique.
We examined 14 patients, aged 10-25 years, with idiopathic hypopituitarism. All presented an ectopic posterior pituitary at the median eminence with a hypoplastic anterior pituitary on magnetic resonance imaging (MRI). Eight patients had isolated growth hormone deficit (IGHD) and six had multiple hormone deficits (MPHD). Unenhanced MRI showed the pituitary stalk, which was extremely thin, in only three patients, while T1-weighted images obtained after intravenous injection of gadopentetate dimeglumine (Gd-DTPA) showed a thin pituitary stalk in seven patients (six with IGHD and one with MPHD), demonstrating a preserved vascular component of the stalk. MRI with Gd-DTPA was more sensitive than unenhanced MRI in detecting the pituitary stalk in patients with hypopituitarism with an ectopic posterior pituitary: the stalk was demonstrated in 50 % of the cases (seven patients), versus 21.4 % (three patients) by unenhanced MRI. The dynamic study of the hypothalamo-hypophyseal axis performed with turbo-FLASH sequences after bolus injection of Gd-DTPA showed the residual anterior pituitary to have arterial enhancement times, which suggests that an arterial system compensates for the absent or diminished blood supply from the portal system, independent of stalk detection.
Adolescent↗
Communicating bicornuate uterus with double cervix and septate vagina: an uncommon malformation diagnosed with MR imaging.
We report a case of communicating uterus diagnosed with MRI. These uterine malformations are characterized by a communicating tract between two separate uterocervical cavities, which is usually detected with hysterosalpingography performed for a suspected uterine malformation. In our patient MRI was performed after the clinical finding of a double cervix and a vaginal septum and demonstrated two separate uterine cavities, each of them with its own junctional area, and an isthmian transverse communicating tract with endometrial tissue inside, which helped make the diagnosis of a type-4 a communicating uterus according to Toaff.
Adult↗
Axonal neuropathy associated with interferon-alpha treatment for hepatitis C: HLA-DR immunoreactivity in Schwann cells.
A 44-year-old man developed a peripheral neuropathy during treatment with interferon-alpha for chronic hepatitis C. The onset was insidious, beginning symmetrically in the hands with paresthesia. Neurophysiological investigation revealed a predominantly sensory axonal neuropathy. A sural nerve biopsy confirmed primary axonal damage. Immunofluorescence studies showed increased expression of HLA-DR molecules prevalently on Schwann cells of non-myelin-forming type.
Adult↗
A phase I-II trial of fixed-dose carboplatin and escalating paclitaxel in advanced ovarian cancer.
We conducted a phase I-II study with escalating paclitaxel doses plus carboplatin at a fixed dose for previously untreated patients with advanced ovarian cancer in order to define the maximum tolerated dose. Eligible for the study were women with a histologically confirmed diagnosis of ovarian cancer stage III-IV according to the FIGO classification. In the first phase of the study, 6 patients were allocated escalating paclitaxel doses with fixed-dose carboplatin in order to establish the maximum tolerated dose. The starting dose of paclitaxel was 150 mg/m2 given after carboplatin (300 mg/m2) every 4 weeks for a total of six courses. The paclitaxel dose step was 25 mg/m2 up to 250 mg/m2. The study then progressed to a phase II trial using the maximum tolerated paclitaxel dosage reached during the escalating dose phase. A total of 27 patients entered phase I and 23 phase II. Neurotoxicity was observed in 47 patients (94%; 29 grade 1, 17 grade 2, 1 grade 3, according to the WHO classification). The intensity of neurotoxicity tended to be dose related: out of the 15 patients who received < or = 200 mg paclitaxel, a total of 14 grade 1, but no grade 2 or 3 neurotoxicities, were observed. The frequency of grade 1, 2 and 3 neurotoxicity was 15, 17 and 1, respectively, in the 35 women who received > or = 225 paclitaxel +300 mg carboplatin. There was no clear relationship between median WBC and platelet nadir and dose level. Among other toxicities, alopecia was observed in all 50 cases, hypersensitivity in two (4%) and myalgia in 41 (82%; 34 grade 1 and 7 grade 2). These frequencies tended to increase with the dose, but the relationship was not statistically significant. The overall response rate was 78% (39/50) with a complete response rate of 62% (31/50). In conclusion, this study suggests that carboplatin and paclitaxel can be administered safely to patients with advanced ovarian carcinoma. The maximum dose reached was 250 mg/m2 paclitaxel and 300 mg/m2 for carboplatin, but from a clinical point of view the maximum paclitaxel dose we would consider safe is 225 mg/m2.
Adult↗