Search results for "deficiency"
showing 10 items of 1071 documents
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
2015
BackgroundLysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, an underappreciated cause of cirrhosis and severe dyslipidemia. MethodsIn this multicenter, randomized, double-blind, placebo-controlled study involving 66 patients, we evaluated the safety and effectiveness of enzyme-replacement therapy with sebelipase alfa (administered intravenously at a dose of 1 mg per kilogram of body weight every other week); the placebo-controlled phase of the study was 20 weeks long and was followe…
Candidal carriage in the oral cavity of human immunodeficiency virus–infected subjects
2002
Abstract Objectives. We sought to assess asymptomatic oral carriage of Candida species and relative density in human immunodeficiency virus-infected (HIV+) subjects, as well as to determine whether yeast carriage is associated with CD4+cell count, HIV-1 RNA quantity, gender, route of HIV transmission, antiretroviral therapy, or smoking. Study Design. A cross-sectional analysis of oral rinses from HIV+ and healthy subjects was undertaken. Oral candidal carriage and relative species were investigated in 42 HIV+ and 41 healthy individuals, all of whom were seen at the Palermo University Department of Oral Sciences, Italy. Data were managed and analyzed by means of the computer software package…
Vitamin D kinetics in the acute phase of critical illness: A prospective observational study.
2017
Abstract Purpose The objective of this study was to assess the vitamin D kinetics in critically ill patients by performing periodic serum vitamin D measurements in short time intervals in the initial phase of a critical illness. Materials and methods We performed vitamin D serum measurements: at admission and then in 12-hour time intervals. The minimum number of vitamin D measurements was 4, and the maximum was 8 per patient. Results A total of 363 patients were evaluated for participation, and 20 met the inclusion criteria. All patients had an initial serum vitamin D level between 10.6 and 39 ng/mL. Nineteen patients had vitamin D levels between 10 and 30 ng/mL, which means that they had v…
Reproducibility of Regional DEXA Examinations of Abdominal Fat and Lean Tissue
2013
<b><i>Objective: </i></b>The aim of this study was to develop and test the validity of a new repeatable method to delimit abdominal areas for follow-up of fat mass (FM) and lean tissue mass (LM) in DEXA examinations<i>. </i><b><i>Methods: </i></b>37 male volunteers underwent two DEXA examinations. Total body FM and LM measurements and corresponding abdominal measurements in a carefully defined region were calculated from the first scan. After repositioning of the subjects and a second scan, the delimited region was copied and the abdominal tissues re-calculated. <b><i>Results: </i></b>The mean LM of the abdo…
Coronary artery stenosis treatment in aging patients with inherited Factor VII deficiency: Where do we stand?
2017
Aging with rare bleeding disorders such as factor VII (FVII) deficiency poses several challenges to treatment because of the occurrence of cerebral and cardiovascular age-related comorbidities and high bleeding risks. We report a case of long-term treatment with antiplatelet agents and contemporary prophylaxis of bleeding in a woman affected by severe FVII deficiency diagnosed with symptomatic coronary artery stenosis. Information on the management of antithrombotic treatment in rare bleeding disorders is lacking and mainly limited to anecdotal reports or side effects secondary to replacement therapy. We also briefly reviewed available data on the treatment of arterial thrombosis in FVII de…
Hematinic de?ciencies in patients with recurrent aphthous stomatitis : variations by gender and age
2017
Background The aim of this study was to evaluate the association between hematinic deficiencies and recurrent aphthous stomatitis (RAS). Material and Methods 517 RAS patients and 187 healthy controls were enrolled in the present study. Hematinic deficiencies, including serum ferritin, folic acid, and vitamin B12 deficiencies were assessed for each participant. Gender and age were taken into account and the collected data were statistically analysed. Results Compared with the healthy controls, a significantly higher overall frequency of hematinic deficiencies was found in RAS patients (p<0.001). When gender and age were taken into account, significant differences in hematinic deficiencies we…
Influence of Patient Selection on the Outcome of Capsule Endoscopy in Patients With Chronic Gastrointestinal Bleeding
2005
Background: In chronic gastrointestinal bleeding, success rates in the range of 48% to 76% have been reported for diagnosing clear bleeding sources using capsule endoscopy. The influence of patient selection on the numbers of positive findings yielded by capsule endoscopy is as yet unclear. Methods: From April 2001 to June 2003, capsule endoscopy was carried out in 74 of a total of 127 patients (58%) who presented for capsule endoscopy with a high suspicion of gastrointestinal bleeding in the small-bowel region. Seventy of the 74 patients were included in the analysis. This group of patients was divided into a study group (32 patients) and a post-study group (38 patients), and the two group…
Long-term follow-up of patients with iron deficiency anemia after a close endoscopic examination of the upper and lower gastrointestinal tract.
2000
Background In patients with Iron Deficiency Anemia (IDA) occult gastrointestinal bleeding is generally investigated by bidirectional endoscopy. The aim of our study was to examine the long-term follow-up of patients with IDA where the sources of bleeding couldn't be detected despite close endoscopic and radiologic examination of the GI tract. Methods Based on the endoscopic data base we examined consecutive patients who were referred for gastrointestinal endoscopy due to IDA with a negative endoscopic (upper GI endoscopy and colonoscopy) evaluation. Further diagnostic work up (repeated endoscopy of the upper and lower GI tract by an experienced investigator, small bowel enteroclysis, push e…
Importance of Social- and Health-Related Problems: Do Spaniards Give Them the Significance They Actually Deserve?
2019
Social and health problems imply an impact on society. The main objective of this study is to provide an overview of how Spanish people perceive cancer, terrorism, cardiovascular diseases, crime, AIDS, drugs, and traffic accidents, finding out whether they assess the importance of these issues in correspondence with their actual severity. The study used a full sample of 1206 Spaniards (51.6% females and 48.4% males) who responded to a computer-assisted telephone interviewing (CATI) survey on the significance of these social and health-related problems, assessed through a zero to ten Likert scale. The perceived severity of the problems was considered taking into account the official data of …
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders
2004
Mutations in ABCA1 have been shown to be the cause of Tangier disease (TD) and some forms of familial hypoalphalipoproteinemia (HA), two genetic disorders characterized by low plasma HDL levels. Here we report six subjects with low HDL, carrying seven ABCA1 mutations, six of which are previously unreported. Two mutations (R557X and H160FsX173) were predicted to generate short truncated proteins; two mutations (E284K and Y482C) were located in the first extracellular loop and two (R1901S and Q2196H) in the C-terminal cytoplasmic domain of ABCA1. Two subjects found to be compound heterozygotes for ABCA1 mutations did not have overt clinical manifestations of TD. Three subjects, all with prema…