Search results for "LIPIDS"
showing 10 items of 2228 documents
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.
2002
Anderson-Fabry disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal alpha-galactosidase A. Clinical manifestations of Anderson-Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson-Fabry disease. This rev…
Contrast-Enhanced Ultrasonography With SonoVue
2009
Objective. We investigated the ability of contrast-enhanced ultrasonography with SonoVue (Bracco SpA, Milan, Italy), a sulfur hexafluoride microbubble contrast agent, to reveal differences between benign and malignant focal splenic lesions. Methods. In a prospective study we investigated 35 lesions in 35 patients (24 male and 11 female; mean age ± SD, 54 ± 15 years) with focal splenic lesions detected by B-mode ultrasonography. After intravenous injection of 1.2 to 2.4 mL of SonoVue, the spleen was examined continuously for 3 minutes using low–mechanical index ultrasonography with contrastspecific software. The final diagnosis was established by histologic examination, computed tomography, …
Oxidant and antioxidant status in mothers and their newborns according to birthweight
2008
The aim of this study is to determine the oxidant and antioxidant status in Algerian mothers and their newborns according to birth weight.Subjects for the study were consecutively recruited from Tlemcen hospital. 139 pregnant women and their newborns were included. The plasma total antioxidant activity (ORAC), vitamins A, C, E, hydroperoxides, carbonyl proteins, and erythrocyte antioxidant enzyme activities (catalase, glutathione peroxidase, glutathione reductase and superoxide dismutase) were measured on mothers and their newborns. Lipid and lipoprotein parameters were also determined. The results were assessed in accordance with small for gestational age (SGA), appropriate (AGA) and large…
Pharmacokinetics, pharmacodynamics, and safety of moss-aGalactosidase A in patients with Fabry disease.
2019
Moss-aGalactosidase A (moss-aGal) is a moss-derived version of human α-galactosidase developed for enzyme replacement therapy in patients with Fabry disease. It exhibits a homogenous N-glycosylation profile with >90% mannose-terminated glycans. In contrast to mammalian cell produced α-galactosidase, moss-aGal does not rely on mannose-6-phosphate receptor mediated endocytosis but targets the mannose receptor for tissue uptake. We conducted a phase 1 clinical trial with moss-aGal in six patients with confirmed diagnosis of Fabry disease during a 28-day schedule. All patients received a single dose of 0.2 mg/kg moss-aGal by i.v.-infusion. Primary endpoints of the trial were safety and pharmaco…
Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene
2003
Abstract We describe a Sicilian family presenting a recessive form of hypercholesterolemia harboring a mutation of the autosomal recessive hypercholesterolemia (ARH) gene. In two of the three sibs, a 26-year-old male and a 22-year-old female, a severe hypercholesterolemia was diagnosed with very high levels of plasma cholesterol (15.9 and 12.2 mmol/l, respectively); tendon xanthomatas and xanthelasms were present and in the male proband was documented a diffuse coronary atherosclerotic disease with a rapid and fatal progression. Both the parents had normal or slightly increased levels of plasma cholesterol. All causes of secondary hypercholesterolemia were ruled out as well as an involvemen…
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia
2009
Context: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X).Objective: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded.Results: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and recurrent epis…
Serum low density lipoprotein subclasses in asthma
2013
Summary Background The levels of serum low-density lipoproteins (LDL) have been implicated in the inflammatory cascade in a murine model of asthma. Recent findings suggest that LDL may modulate the inflammatory state of the asthmatic airways in humans. Objective We explored whether LDL subclasses are associated with the occurrence and severity of asthma. Methods 24 asthmatics (M/F: 11/13) and 24 healthy individuals, with normal BMI and absence of metabolic syndrome, matched for age and gender. Serum concentrations of LDL subclasses were distributed as seven bands (LDL-1 and -2 defined as large, least pro-inflammatory LDL, and LDL-3 to −7 defined as small, most pro-inflammatory LDL), using t…
Phantom Limb Pain in Daily Practice—Still a Lot of Work to Do!
2012
Objectives. Effective treatment of phantom limb pain (PLP, pain felt in the part of the body of an amputated limb) is still difficult to achieve, and improved treatment is needed. It is therefore of paramount interest to understand the current practice of PLP therapy outside pain centers. Design. As a part of a nationwide survey, 537 amputees were asked 11 questions related to their treatment experiences and the pain relief. Furthermore, the patients' opinion about the quality of medical care was also asked. Results. Five hundred thirty-seven out of 1088 amputees returned the questionnaire (49.4%). Four hundred (74.5%) suffered from PLP. The patients rated their caregivers' knowledge about …
Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia
2008
Abstract Objective Familial hypobetalipoproteinemia (FHBL) is characterized by inherited low plasma levels of apolipoprotein B (apoB)-containing lipoproteins. In this paper we investigated whether the already described APOB R463W missense mutation, a FHBL mutation able to impair the activity of microsomal triglyceride transfer protein (MTP), may cause intestinal fat accumulation and reduced postprandial lipemia. Methods Four out of five probands harboring APOB R463W mutation were compared with six healthy controls and six patients with celiac disease (CD). An oral fat load supplemented with retinyl palmitate (RP) was administered and a gastro-duodenal endoscopy with biopsy was performed. Re…
Common cholesteryl ester transfer protein gene variation related to high-density lipoprotein cholesterol is not associated with decreased coronary he…
2009
Despite the consistent association between cholesteryl ester transfer protein (CETP) gene variation and plasma HDL-C, huge controversy still rages on its association with coronary heart disease (CHD). We investigated the association between the CETP-TaqIB polymorphism, HDL-C and incident CHD in a Mediterranean population.A nested case-control study among participants of the Spanish EPIC cohort was performed. 41,440 healthy individuals (30-69 years) were followed up over a 10-year period, incident CHD cases being identified. We analyzed 557 confirmed CHD cases and 1180 healthy controls.Despite B2B2 subjects having the highest HDL-C concentrations and B1B1, the lowest (P0.001), no protective …