Quality of life in people with epidermolysis bullosa: a systematic review.

PURPOSE: Individuals with epidermolysis bullosa (EB) present with various clinical manifestations of different severities that affect quality of life (QoL). This systematic review synthesizes the current evidence about the QoL of individuals with EB. METHODS: We included observational studies with people of all age groups, both sexes, and any EB type. Studies with qualitative methodology, chapters of books, meeting proceedings, and abstracts were excluded. RESULTS: In this study, 12 articles comprising 745 individuals were included. More than half of the articles observed lower QoL in individuals with recessive dystrophic EB (RDEB) or junctional EB (JEB). Three articles indicated that EB affected QoL more in women than in men, and one article identified that children with EB suffered more than adults with the disease. Pain was frequently reported. Seven articles identified difficulty in sports, two identified a need for bathing assistance, and three identified eating difficulties. Additionally, participants reported that family relationships and friendships were affected, and they experienced feelings of anxiety and depression. Some of the instruments used evaluated QoL in general dermatologic conditions, and one was specific to EB. CONCLUSION: QoL is more affected in people who have RDEB and JEB. Regarding sex and age, women and children need special care in their monitoring. It is necessary that guidelines on pain management be more disseminated and put into practice. Future studies should use standardized specific instruments to assess the QoL in EB individuals, while considering the particularities of the different age groups.

Effectiveness of gastrostomy for improving nutritional status and quality of life in patients with epidermolysis bullosa: a systematic review.

Individuals with epidermolysis bullosa (EB) may present with a broad spectrum of growth impairment and multiorgan disorders, with compromised nutritional status and quality of life. The provision of nutrients through a gastrostomy tube may minimize EB-related malnourishment but may also result in skin injuries and infections. In this systematic review we consider the current evidence about the effectiveness of gastrostomy in restoring nutritional status and improving quality of life in patients with EB. Seven studies (n = 146) met selection criteria and patients ranged in age from 6 weeks to 33 years of age. Although it is not a risk-free procedure, the placement of a gastrostomy tube is a feasible and safe alternative to provide nutritional support and to improve the quality of life of patients.

Karyotype structure of Hypostomus cf. plecostomus (Linnaeus, 1758) from Tapajós River basin, Southern Amazon: occurrence of sex chromosomes (ZZ/ZW) and their evolutionary implications.

Hypostomus is a group of fish with numerical and struc-tural karyotypic variability. Among them, only six species, three of which belong to the Amazon basin, show a sex chromosome. In this study, we present the karyotype structure of Hypostomus cf. plecos-tomus from the Teles Pires river basin in the municipality of Alta Flo-resta, MT. The species has 2n = 68 and the karyotype formula 14m+ 24sm+ 14st+ 16a [fundamental number (FN) = 120] in males and 15m+ 24sm+14st+15a (FN = 121) in females and sex chromosomes ZZ/ZW. Argyrophilic nucleolar organizer regions (AgNORs) were identified in two pairs of chromosomes at different positions: short arm of the pair 21and long arm of the pair 27, matching the signals displayed by 18S FISH and indicating multiple NORs. Analysis of band C detected few blocks of constitutive heterochromatin in the pericentromeric regions of most chromosomes and the telomeric regions of some pairs, includ-ing the nucleolar pair 21. However, large blocks on the long arm of the nucleolar pair 27 still stood out. GC-rich heterochromatin (CMA3) was visualized only coincidently with nucleolar sites. Mapping of 5S rDNA sites with FISH revealed markings in eight chromosomes, demonstrat-ing synteny between the 18S and 5S sites. The data obtained for H. cf. plecostomus are important for taxonomic studies of this Amazon com-plex "H. plecostomus group". The occurrence of sex chromosomes in Amazon species of Hypostomus suggests an evolutionary event that is independent of other species in the group.

Protective effects of beta-carotene against the genotoxicity of doxorubicin in somatic cells of Drosophila melanogaster.

beta-carotene (BC), pro-vitamin A, is an efficient antioxidant, effective in the neutralization of oxygen reactive species, which cause serious damage to DNA. Various studies have been conducted on the effectiveness of BC for chemoprevention of cancer and heart disease. Doxorubicin is a chemotherapeutic agent used for cancer treatment that generates free radicals. We examined the effects of BC (1, 2 and 4 mg/mL) on the genotoxicity of doxorubicin (0.125 mg/mL), using the wing spot test in Drosophila melanogaster (somatic mutation and recombination test). The BC alone had no significant effect on the frequency of mutant spots. However, it significantly reduced the number of spots caused by doxorubicin. We concluded that BC is not genotoxic and that it exerts protective effects against the genotoxic action of the chemotherapeutic free-radical generator doxorubicin.

Recombinogenic effects of the aqueous extract of pulp from pequi fruit (Caryocar brasiliense) on somatic cells of Drosophila melanogaster.

Caryocar brasiliense Camb. is a tree popularly known in Central Brazil as pequi. Its fruit contains carotenes, retinols, vitamin C, and polyphenols. These compounds possess antioxidant properties preventing excessive free radical formation and modulating the genotoxicity of physical and chemical agents in the body. However, at high concentrations these compounds can have recombinogenic and mutagenic effects, because they can act as pro-oxidants. We examined the genotoxic effects of aqueous extracts of pequi pulp on wing spots of Drosophila melanogaster using the somatic mutation and recombination test (SMART). SMART was applied to a standard cross and to a high bioactivation cross. Two types of descendants were obtained from these crosses: marked-heterozygous (mwh + / + flr3) and balancer-heterozygous (mwh + / + TM3, Bds). Seventy-two-hour larvae from both crosses were treated with pequi pulp extract at 1, 5 and 10%. The extract increased significantly the frequency of mutant spots when compared with the negative control. Recombinogenic effects were also observed in the mwh/TM3 descendants.