Search results for "DEFICIENCY"

Effectiveness of a screening program for HBV, HCV, and HIV infections in African migrants to Sicily

2021

BACKGROUND Migrants from Africa are vulnerable to viral infections during their journey. METHODS Migrants who arrived in western Sicily were offered early screening for hepatitis B virus (HBV), hepatitis C virus (HCV), and human immunodeficiency virus (HIV) infection. A questionnaire was administered to evaluate risk factors, and antiviral therapy was offered to subjects with active infection. A multiple regression analysis and adjusted odds ratio were obtained to evaluate risk factors. RESULTS Overall, 2,639 of 2,751 (95.9%) migrants who arrived between 2015 and 2017 accepted screening and 1,911 (72.4%) completed the questionnaire. HBsAg was positive in 257 (9.7%) migrants, 24 (0.9%) were …

A non-valvular infective endocarditis in an HIV patient with myocardiopathy

2006

A 37-year-old woman presented in the emergency department revealing a history of HIV infection and C virus hepatitis diagnosed 15 years ago, acquired after a period of intravenous drug abusing. The patient was receiving triple antiHIV therapy and was in an A1 stage (last lymphocite recount of CD4: 0.63 10/l and no AIDS disease manifestation to the present moment). She described episodes, starting 20 days before, of torathic pain coexisting with shivers. There were no symptoms or signs of any focal infection. In the physical examination the only findings were a temperature of 38.4 8C, a 4 cm hepatomegaly and lipodystrophy. We found in the electrocardiogram a sinus rhythm, 96 bpm and no ST se…

P1211 : Efficacy and safety of sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Results of a phase 3 trial

2015

Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolong…

2014

Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolonged pharmacodynamic effect -

Combined homozygous factor H and heterozygous C2 deficiency in an Italian family

1988

Three of four children in a family have homozygous (less than 1% of normal) deficiency of factor H of the complement system and both parents, who are first cousins, are heterozygous for the same defect. The father and two of the H-deficient siblings also have a partial C2 deficiency. One of the children with combined deficiencies is affected by systemic lupus erythematosus with nephritis. No increased susceptibility to infections has been observed in the family. H deficiency is inherited in an autosomal codominant manner and is independently transmitted from C2 deficiency and HLA haplotypes. In the homozygous state it is associated with very low serum concentrations of B and C3, barely demo…

Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy

2006

UNLABELLED Fatal infantile cardioencephalomyopathy (OMIM No. 604377) is a disorder of the mitochondrial respiratory chain and is characterised by neonatal progressive muscular hypotonia and cardiomyopathy because of severe Cytochrome c oxidase deficiency. Here we report a novel mutation in the Cytochrome c oxidase assembly gene SCO2 in an infant with fatal infantile cardioencephalomyopathy despite normal initial metabolic screening. CONCLUSION In newborns with unexplained muscular hypotonia and cardiomyopathy genetic testing of mitochondrial respiratory chain disorders might be helpful to establish a final diagnosis and guide treatment decisions.

Síndrome de déficit de testosterona y disfunción eréctil

2010

OBJETIVOS Analizar la relacion entre el sindrome de deficit de testosterona (SDT) y la disfuncion erectil y sus implicaciones diagnosticas y terapeuticas. METODOS Revision bibliografica mediante la base de datos de Pubmed de la US National Library of Medicine. RESULTADOS La real prevalencia del SDT es desconocida, debido a la falta de criterios diagnosticos uniformes en cuanto a que fraccion de testosterona debe medirse (total, libre o biodisponible) y cuales deben ser los valores diagnosticos. A pesar de ello, se estima que entre un 5-15% de varones con disfuncion erectil presentan niveles sericos disminuidos de testosterona. Existe una solida base experimental que demuestra que la testost…

Diagnosing HIV infection using flow cytometry: From antigenic analyses to a specifically dedicated bead-based assay to measure viral load.

2009

SINCE the discovery of HIV in 1984 (1,2), millions have been infected and have died of AIDS. In 2006, the World Health Organization identified 40 million HIV-infected subjects, noting that antiretroviral therapy was required throughout the world (Fig. 1; http://www.who.int/hiv/data/en/index.html). Today, the situation is very similar and the HIV pandemic remains a major world health problem (3). The treatment of AIDS with highly active antiretroviral therapy (HAART) involves regular monitoring of different blood parameters, requiring the development of convenient and accurate methods that can evaluate HIV infection even in resource-poor countries (4,5). In addition to CD4 cell count, which …

Innenrücktitelbild: Structure-Based Design of an RNA-Bindingp-Terphenylene Scaffold that Inhibits HIV-1 Rev Protein Function (Angew. Chem. 50/2013)

2013

Structure-Based Design of an RNA-Bindingp-Terphenylene Scaffold that Inhibits HIV-1 Rev Protein Function

2013