Report of a new mutation in CYBB gene in two patients with X linked chronic granulomatous disease

Background: The X-linked form of chronic granulomatous disease (CGD) is a primary immunodeficiency that affects phagocytes of the innate immune system and is characterized by an increased susceptibility to severe bacterial and fungal infections. It is caused by mutations in the CYBB gene, which encodes the 91-kD subunit of phagocyte NADPH oxidase. Aim: To identify the mutation in the CYBB gene in two unrelated patients from Chile with, the diagnosis of X-linked CGD and their families. Patients and methods: The molecular genetic defects of two unrelated patients from Chile with X-linked CGD caused by defects in the CYBB gene were investigated. The underlying mutation was investigated by single strand conformation polymorphism (SSCP) analysis of PCR-amplified genomic DNA and by sequencing of the affected gene region. Results: We found an insertion c.1267_1268insA in exon 10 leading to a frameshift mutation. This mutation is a novel report. We also identified a splice site mutation in the other patient, that presented a c.1326 +1 G > A substitution in intron 10. The mutation was also detectable in his heterozygous mother. Conclusions: This is the first report of the clinical and molecular characterization of Chilean patients with mutations in CYBB gene (Rev Med Chile 2006; 134: 965-72).134896597

GO-PROMTO Illuminates Protein Membrane Topologies of Glycan Biosynthetic Enzymes in the Golgi Apparatus of Living Tissues

The Golgi apparatus is the main site of glycan biosynthesis in eukaryotes. Better understanding of the membrane topology of the proteins and enzymes involved can impart new mechanistic insights into these processes. Publically available bioinformatic tools provide highly variable predictions of membrane topologies for given proteins. Therefore we devised a non-invasive experimental method by which the membrane topologies of Golgi-resident proteins can be determined in the Golgi apparatus in living tissues. A Golgi marker was used to construct a series of reporters based on the principle of bimolecular fluorescence complementation. The reporters and proteins of interest were recombinantly fused to split halves of yellow fluorescent protein (YFP) and transiently co-expressed with the reporters in the Nicotiana benthamiana leaf tissue. Output signals were binary, showing either the presence or absence of fluorescence with signal morphologies characteristic of the Golgi apparatus and endoplasmic reticulum (ER). The method allows prompt and robust determinations of membrane topologies of Golgi-resident proteins and is termed GO-PROMTO (for GOlgi PROtein Membrane TOpology). We applied GO-PROMTO to examine the topologies of proteins involved in the biosynthesis of plant cell wall polysaccharides including xyloglucan and arabinan. The results suggest the existence of novel biosynthetic mechanisms involving transports of intermediates across Golgi membranes

An overview of the utilisation of microalgae biomass derived from nutrient recycling of wet market wastewater and slaughterhouse wastewater

Microalgae have high nutritional values for aquatic organisms compared to fish meal, because microalgae cells are rich in proteins, lipids, and carbohydrates. However, the high cost for the commercial production of microalgae biomass using fresh water or artificial media limits its use as fish feed. Few studies have investigated the potential of wet market wastewater and slaughterhouse wastewater for the production of microalgae biomass. Hence, this study aims to highlight the potential of these types of wastewater as an alternative superior medium for microalgae biomass as they contain high levels of nutrients required for microalgae growth. This paper focuses on the benefits of microalgae biomass produced during the phycore-mediation of wet market wastewater and slaughterhouse wastewater as fish feed. The extraction techniques for lipids and proteins as well as the studies conducted on the use of microalgae biomass as fish feed were reviewed. The results showed that microalgae biomass can be used as fish feed due to feed utilisation efficiency, physiological activity, increased resistance for several diseases, improved stress response, and improved protein retention

Life history traits influence in gonad composition of two sympatric species of flatfish

AbstractParalichthys orbignyanus and Paralichthys patagonicus are flatfish with different life history traits, having in common the condition of breeding in seawater. Paralichthys patagonicus remain their whole life in open seawater and Paralichthys orbignyanus are sometimes found in brackish water bodies. As marine and estuarine food webs have different fatty acid (FA) compositions, the aim of this study was to characterize the gonadal maturation of P. orbignyanus and P. patagonicus females through the analysis of lipid content and FA profile in order to understand to what extent life history traits are reflected in the ovarian composition. During gonadal maturation lipid content increased and FA profiles changed in both species, but the lipid increase was greater in P. orbignyanus. The N-3FA and n-3HUFA proportions increased in both species but were higher in P. orbignyanus. The differences between the lifestyles of these species were reflected in the ovarian FA profile mainly as a result of differences in their FA metabolism, causing a greater accumulation of n-3FA and n-3HUFA in P. orbignyanus than in P. patagonicus. The higher lipid accumulation in P. orbignyanus’ ovaries could indicate that this species, feeding in brackish water bodies, has the possibility of storing more energy than P. patagonicus

Specific antibody deficiency with normal immunoglobulin concentration in children with recurrent respiratory infections

© 2013 SEICAP. Background: Response to polysaccharide antigens is a test to evaluate the immunological competence of children with recurrent respiratory infections (RRI) of unknown cause and no other immune system abnormality. In order to detect specific antibody deficiency (SAD), a group of children with RRI without other immunodeficiency were prospectively studied. Methods: We included 20 children (12 male), age range 3-14 years, with six or more annual episodes of respiratory infections (RI); one or more monthly episodes of RI during the winter months; or three or more annual episodes of lower RI. The children were immunised with 23-valent polysaccharide anti-pneumococcal vaccine, and ELISA was used to measure anti-polysaccharide IgG antibody levels for 10 pneumococcal serotypes at baseline (T0), and 45 days (T1) and one year post-immunisation (T2). Post-immunisation response above 1.3. μg/ml for more than 50% of the serotypes was considered normal for children 2-5 years, and for m

Therapeutic effects of the anti-tumor necrosis factor monoclonal antibody, infliximab, in four children with refractory juvenile idiopathic arthritis

Objective: To report the results of treatment with infliximab in patients with refractory juvenile idiopathic arthritis (JIA). Patients and methods: A prospective study of four children with refractory JIA was carried out. Infliximab (100 mg) was administered in weeks 0, 2 and 6. Subsequently, the drug was administered every 8 weeks. The following parameters were assessed at the beginning and at the end of the follow-up period: number of joints with active arthritis, number of joints with a limited range of motion, physician overall assessment of disease activity, parent assessment of the child's overall well-being, pain assessment scores, and erythrocyte sedimentation rate. Improvement was rated according to the definition of the American College of Rheumatology (ACR 30). Paired sample tests were used for statistical analysis. Results: Three girls and one boy aged between 10 and 16 years old with a history of JIA ranging from 1 to 9 years were included. The patients received inflixim

Changes in the survival of patients with systemic lupus erythematosus in childhood: 30 Years experience in Chile

The objective of this study was to analyse the survival rate and cause of death in children with systemic lupus erythematosus (SLE) during the past 30 years in Chile. A retrospective analysis was performed between 1969 and 2000 on patients attending pediatric rheumatology centres in Santiago, Chile. Survival and causes of death in 31 children followed from 1969 to 1980 fulfilling the 1982 American College of Rheumatology criteria for SLE and treated with oral steroids were compared with 50 other patients who were treated with oral steroids and an aggressive treatment of IV bolus of cyclophosphamide (38 patients) and azathioprine (12 patients). Global survival at five and 10 years follow-up for the patients studied from 1969 to 1980 was 68 and 40%, respectively. During the second study period these values were significantly improved and global survival reached 95% at five years and 90% at 10 years follow-up (P < 0.05). Survival at 10 years follow-up for patients with lupus nephropathy