Search results for "lobo"
showing 10 items of 83 documents
Stable isotopic composition of three foraminifera species in ODP Hole 160-963D
2020
Carbon-rich layers exist at both sides of the Mediterranean Sea sedimentary record and are called sapropels and organic rich layers (ORLs), respectively in the eastern and western basins. They have different levels of organic carbon accumulation and seafloor oxygen deprivation. The most recent sapropel and ORL deposition have a different timing, 10.8-6.1 and 14.5-9.0 ka respectively. Here we investigate oxygen isotopic records of three foraminifera species that occupy different habitats within the Sicily Channel water column since ~ 12.0 ka, thus in the sill between the eastern and western Mediterranean basins. These data are ice volume-corrected, to get information on water masses density …
Modulation of Forssman Glycosphingolipid Expression by Murine Macrophages: Coinduction with Class II MHC Antigen by the Lymphokines IL4 and IL6
1990
In contrast to murine spleen M phi, resident peritoneal M phi from health mice express very little Forssman glycolipid antigen (Fo). The following experiments suggest that Fo expression by peritoneal M phi may be associated with inflammation. Balb/c and CBA/J mice were given inflammatory stimuli by i.p. injection of live BCG, thioglycollate (TG), Corynebacterium parvum (CP), proteose peptone (PP), or LPS. Control animals received pyrogen-free saline. Expression of Fo and Ia antigen by peritoneal M phi was determined by immunofluorescence after 4 d. Application of TG or CP led to an up to 30-fold increase in Fo+, Ia+ double positive M phi over that in control animals. LPS caused mainly an in…
Antispasmodic Effects and Structure−Activity Relationships of Labdane Diterpenoids from Marrubium globosum ssp. libanoticum
2009
Marrubium globosum ssp. libanoticum is a medicinal plant used in Lebanon to reduce pain and smooth muscle spasms. A chloroform extract obtained from M. globosum aerial parts reduced acetylcholine-induced contractions in the isolated mouse ileum. The purification of this extract identified, among 12 isolated labdane diterpenoids, four new compounds, named 13-epicyllenin A (4), 13,15-diepicyllenin A (5), marrulibacetal (9), and marrulactone (11). Their structures were determined by spectroscopic methods. Compound 9, which exerted antispasmodic activity, is likely the active ingredient of the extract. Preliminary structure-activity relationships for this class of compounds are suggested.
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review
2021
Krabbe disease (KD) is a rare autosomal recessive lipid storage leukodystrophy. It is caused by deficient enzyme activity resulting from mutations of the β-galactocerebrosidase (GALC) gene. KD is distinguished into subtypes based on the age of onset; these are early infantile, late infantile, juvenile, and adult-onset. We report a case of a 47-year-old Caucasian man with a 2-year history of muscle atrophy and weakness in both hands associated with pyramidal signs and mild spasticity in the lower limbs. An extensive work-up led this motor neuron disease-like disorder to be diagnosed as adult-onset KD. The patient was found to be compound heterozygous for two GALC mutations (p.G286D and p.Y49…
Determination of globotriaosylceramide in plasma and urine by mass spectrometry
2009
Abstract Background: Fabry disease is an X-chromosomally inherited lysosomal storage disorder leading to accumulation of glycosphingolipids, mainly globotriaosylceramide (ceramide-trihexoside, Gb3). Concentrations of Gb3 in plasma and urine have been used to diagnose Fabry disease and to monitor enzyme replacement therapy with recombinant α-galactosidase. Methods: Gb3 was purified from plasma or urine by combined liquid extraction/protein precipitation and solid-phase extraction, and was detected by flow-injection analysis electrospray mass spectrometry (MS) using multi-reaction-monitoring. Calibration was performed via standard addition using C17-Gb3 as internal standard. The most abundant…
Intestinal helminth fauna of the South American sea lion Otaria flavescens and fur seal Arctocephalus australis from northern Patagonia, Argentina
2012
AbstractWe report on the intestinal helminth fauna of 56 South American sea lions, Otaria flavescens, and 5 South American fur seals, Arctocephalus australis, from northern Patagonia, Argentina. A total of 97,325 helminth specimens were collected from sea lions. Gravid individuals were represented by 6 species of parasites: 1 digenean (Ascocotyle (Ascocotyle) patagoniensis), 1 cestode (Diphyllobothrium spp.), 3 nematodes (Uncinaria hamiltoni, Contracaecum ogmorhini s.s., Pseudoterranova cattani) and 1 acanthocephalan (Corynosoma australe). In addition, third-stage larvae of 2 nematodes (Contracaecum sp. and Anisakis sp. type I) and 3 juvenile acanthocephalans (Andracantha sp., Profilicollis…
Baraitser-Winter cerebrofrontofacial syndrome : Delineation of the spectrum in 42 cases
2015
International audience; Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode beta- and gamma-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris…
Ultrastructural Pathology of Eccrine Sweat Gland Epithelial Cells in Globoid Cell Leukodystrophy
1993
Three of four children were recognized by deficient β-galactocerebrosidase activities as having globoid cell leukodystrophy inclusions in sweat gland epithelial cells, similar in ultrastructure to those seen in Schwann cells. This observation in globoid cell leukodystrophy emphasizes the need to include sweat gland epithelial cells in examinations of skin in globoid cell leukodystrophy, as well as in any neurometabolic disorder. ( J Child Neurol 1993;8:171-174).
Cutaneous complications of Anderson-Fabry disease.
2013
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a defect in the -galactosidase A gene, which leads to the deficiency of the hydrolytic enzyme -galactosidase A. The consequent inability to catabolize glycosphingolipids causes progressive accumulation of globotriaosylceramide in the vascular endothelium throughout the body. Fatalities in the classical phenotype may usually occur as a consequence of cerebral, cardiac or renal disease. Dermatological manifestations are a relevant feature of Fabry disease and include angiokeratomas, telangiectasiae, lymphedema, anhidrosis or hypohidrosis and pseudo-acromegalic facial appearance. The actual causal treatment for Fabry …
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease.
2006
Aim: To assess the effects of enzyme replacement therapy (ERT) in children with Fabry disease. Methods: Safety and efficacy of ERT with agalsidase alfa, 0.2 mg/kg infused over 40 minutes every 2 weeks for 23 weeks, were studied in a multicentre open-label trial in nine boys and four girls. Median age at the start of the study was 11.0 years (range 3.5–18 years). Results: Fifty-four adverse events were reported in 11 patients. No serious adverse events related to ERT were reported. Twelve of the 54 adverse events were considered possibly or probably related to ERT. Infusion reactions (8 mild, 3 moderate) occurred in four boys, in seven infusions. One boy developed IgG antibodies, although he…