Search results for "DEFICIENCY"
showing 10 items of 1071 documents
The role of post-transcriptional modulators of metalloproteins in response to metal deficiencies
2021
Copper and iron proteins play a wide range of functions in living organisms. Metal assembly into metalloproteins is a complex process, where mismetalation is detrimental and energy-consuming to cells. Under metal deficiency, metal distribution is expected to reach a metalation ranking, prioritizing essential versus dispensable metalloproteins, while avoiding interferences with other metals and protecting metal-sensitive processes. In this review, we propose that posttranscriptional Modulators of Metalloprotein messenger RNA (ModMeR) are good candidates in metal prioritization under metal-limited conditions. ModMeR target high quota or redundant metalloproteins and, by adjusting their synthe…
Comparison of global responses to mild deficiency and excess copper levels in Arabidopsis seedlings
2013
[EN] Copper is an essential micronutrient in higher plants, but it is toxic in excess. The fine adjustments required to fit copper nutritional demands for optimal growth are illustrated by the diverse, severe symptoms resulting from copper deficiency and excess. Here, a differential transcriptomic analysis was done between Arabidopsis thaliana plants suffering from mild copper deficiency and those with a slight copper excess. The effects on the genes encoding cuproproteins or copper homeostasis factors were included in a CuAt database, which was organised to collect additional information and connections to other databases. The categories overrepresented under copper deficiency and copper e…
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoG…
2019
This multicenter/multinational, open-label, ascending-dose study (NCT01898364) evaluated safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeat-dose avalglucosidase alfa (neoGAA), a second-generation, recombinant acid α-glucosidase replacement therapy, in late-onset Pompe disease (LOPD). Patients ≥18 years, alglucosidase alfa naïve (Naïve) or previously receiving alglucosidase alfa for ≥9 months (Switch), with baseline FVC ≥50% predicted and independently ambulatory, received every-other-week avalglucosidase alfa 5, 10, or 20 mg/kg over 24 weeks. 9/10 Naïve and 12/14 Switch patients completed the study. Avalglucosidase alfa was well-tolerated; no deaths…
Performance of QuantiFERON-TB Gold Plus for detection of latent tuberculosis infection in pregnant women living in a tuberculosis- and HIV-endemic se…
2017
We evaluated the performance of QuantiFERON-TB Gold Plus (QFT-Plus), which includes two Mycobacterium tuberculosis antigen formulations (TB1 and TB2), for detection of latent tuberculosis infection during pregnancy. Eight-hundred-twenty-nine Ethiopian pregnant women (5.9% HIV-positive) were tested with QFT-Plus, with bacteriological sputum analysis performed for women with clinically suspected tuberculosis and HIV-positive women irrespective of clinical presentation. QFT-Plus read-out was categorized according to the conventional cut-off (0.35 IU/ml) for both antigen formulations. In addition, we analysed the distribution of QFT-Plus results within a borderline zone (0.20–0.70 IU/ml), and i…
Test-retest reliability of a new self reported comprehensive questionnaire measuring frequencies of different modes of adolescents commuting to schoo…
2009
Published version of an article from the journal: International Journal of Behavioral Nutrition and Physical Activity Article available from: http://www.ijbnpa.org/content/6/1/68 Background: Studies assessing active commuting to school usually use simple questionnaires, and often is mode of commuting reported with a single questionnaire item only. The purpose of the present study is to report the test-retest reliability of a newly developed comprehensive questionnaire on active commuting to school and work among 6thgrade school children and their parents in Norway. Methods: A total of 106 pupils and 77 parents completed a questionnaire two times, 14 days apart. The questionnaire consisted o…
Scientific HIV research in Africa and the Middle East: a socio-economic demographic analysis
2021
Background: In Africa, HIV/AIDS research is concentrated in certain countries, particularly South Africa. This distribution may not accurately reflect the disease prevalence or the true research efforts of countries.Objectives: To identify HIV/AIDS research productivity of countries in Africa and the Middle East, in absolute terms and adjusted for people living with HIV, population size and economic development.Methods: We identified all the articles and reviews on HIV and AIDS in the Web of Science Core Collection in which African or Middle Eastern countries had participated. After determining the number of documents produced by each country, we adjusted the findings for the number of peop…
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
2013
Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and Sanger sequence analysis in a cohort of 18 affected individuals. We identified recessive mutations in EPG5 (previously KIAA1632), indicating a causative role in Vici syndrome. EPG5 is the human homolog of the metazoan-specific autophagy gene epg-5, encoding a key autophagy regulator (ectopic P-granules autophagy protein 5) implicated in the formation of autolysosomes. Further studies showed a severe block in autophagosomal clearance in muscle a…
Elimination of Vitamin D Signaling Causes Increased Mortality in a Model of Overactivation of the Insulin Receptor: Role of Lipid Metabolism
2022
Vitamin D (VD) deficiency has been associated with cancer and diabetes. Insulin signaling through the insulin receptor (IR) stimulates cellular responses by activating the PI3K/AKT pathway. PTEN is a tumor suppressor and a negative regulator of the pathway. Its absence enhances insulin signaling leading to hypoglycemia, a dangerous complication found after insulin overdose. We analyzed the effect of VD signaling in a model of overactivation of the IR. We generated inducible double KO (DKO) mice for the VD receptor (VDR) and PTEN. DKO mice showed severe hypoglycemia, lower total cholesterol and increased mortality. No macroscopic tumors were detected. Analysis of the glucose metabolism did n…
Comunicazione orale
2011
LO SCORBUTO, SEGNALE DI ALLARME DI UN DISTURBO DELLO SPETTRO AUTISTICO
2022
The authors describe the case of a 3-year-old girl with bleeding gums and leg pain finally diagnosed with vitamin C deficiency (scurvy) and autistic spectrum disorder (ASD). The increased risk of developing scurvy due to a restricted diet in children affected by ASD is stressed.