Evaluation of quality of life in hemophilia patients using the WHOQOL-bref and Haemo-A-Qol questionnaires

ABSTRACT Introduction: Hemophilia is a coagulopathy caused by a deficiency in coagulation factors VIII (hemophilia A) or IX (hemophilia B). It is a chronic disease and, hence, impairs the quality of life (Qol) of the patients. This study aimed to evaluate the Qol of patients with hemophilia using the WHOQOL-bref and the Haemo-A-Qol instruments, its relation to the clinical condition and its sociodemographic variables. Methods: This is a cross-sectional, epidemiological study, comprising 17 patients with hemophilia, registered at the hemocenter, who met the eligibility criteria. Data were collected using three questionnaires: a semi-structured clinical evaluation form, the WHOQOL-bref and the Haem-A-Qol. Results: The average age was 30 years old, and most participants declared themselves to be single (58.82%), without children (64.70%) and employed (58.82%). Hemophilia A was observed in 14 patients and the most severe form of the disease was more prevalent (64.70%). The average score of Qol, estimated by the WHOQOL-bref questionnaire was 74.3; being "social relations" the domain with the highest average. The Haem-A-Qol measured an average of 36.2 and the domain with the highest result was "Family Planning". Conclusion: Hemophilia had a higher negative impact upon the physical, sports and leisure features in the sample subjects. The analysis of the questionnaires did not reveal statistical agreement between them. Based on this, the Haem-A-Qol is considered the most recommended to evaluate the Qol, as it addresses factors more specifically related to the disease. No statistical significance was observed between the scores of Qol, as for the presence of comorbidities, gravity of the hemophilia and positive serology for infections.

Evaluation of quality of life in hemophilia patients using the WHOQOL-bref and Haemo-A-Qol questionnaires.

INTRODUCTION: Hemophilia is a coagulopathy caused by a deficiency in coagulation factors VIII (hemophilia A) or IX (hemophilia B). It is a chronic disease and, hence, impairs the quality of life (Qol) of the patients. This study aimed to evaluate the Qol of patients with hemophilia using the WHOQOL-bref and the Haemo-A-Qol instruments, its relation to the clinical condition and its sociodemographic variables. METHODS: This is a cross-sectional, epidemiological study, comprising 17 patients with hemophilia, registered at the hemocenter, who met the eligibility criteria. Data were collected using three questionnaires: a semi-structured clinical evaluation form, the WHOQOL-bref and the Haem-A-Qol. RESULTS: The average age was 30 years old, and most participants declared themselves to be single (58.82%), without children (64.70%) and employed (58.82%). Hemophilia A was observed in 14 patients and the most severe form of the disease was more prevalent (64.70%). The average score of Qol, estimated by the WHOQOL-bref questionnaire was 74.3; being "social relations" the domain with the highest average. The Haem-A-Qol measured an average of 36.2 and the domain with the highest result was "Family Planning". CONCLUSION: Hemophilia had a higher negative impact upon the physical, sports and leisure features in the sample subjects. The analysis of the questionnaires did not reveal statistical agreement between them. Based on this, the Haem-A-Qol is considered the most recommended to evaluate the Qol, as it addresses factors more specifically related to the disease. No statistical significance was observed between the scores of Qol, as for the presence of comorbidities, gravity of the hemophilia and positive serology for infections.

Desensitization in patients with hypersensitivity to haem arginate: A case report.

BACKGROUND: Porphyria comprises a group of metabolic disorders caused by the irregular activities of enzymes within the haem biosynthetic pathway. This disease can provoke a large variety of symptoms. Acute porphyria attacks need to be treated urgently to avoid prolonged illness and fatal complications. Haem arginate, a concentrated haem solution stabilized with arginine, is the only preparation available for treatment in Europe and South America. This report describes a safe desensitization protocol for patients who require such treatment and have haem arginate hypersensitivity. CASE PRESENTATION: A 25-year-old female patient diagnosed with acute intermittent porphyria, who had an anaphylactic reaction while receiving haem arginate. The patient was treated with a desensitization protocol for patients with hypersensitivity to haem arginate. CONCLUSION: Porphyria is a disease that can significantly compromise a patient's quality of life. The desensitization protocol for patients with hypersensitivity to haem arginate is a safe and effective treatment option for patients with a history of haem arginate allergies, to whom it is not possible to administer haematin.

The reduced genome of Candidatus Kinetoplastibacterium sorsogonicusi, the endosymbiont of Kentomonas sorsogonicus (Trypanosomatidae): loss of the haem-synthesis pathway.

Trypanosomatids of the genera Angomonas and Strigomonas (subfamily Strigomonadinae) have long been known to contain intracellular beta-proteobacteria, which provide them with many important nutrients such as haem, essential amino acids and vitamins. Recently, Kentomonas sorsogonicus, a divergent member of Strigomonadinae, has been described. Herein, we characterize the genome of its endosymbiont, Candidatus Kinetoplastibacterium sorsogonicusi. This genome is completely syntenic with those of other known Ca. Kinetoplastibacterium spp., but more reduced in size (~742 kb, compared with 810-833 kb, respectively). Gene losses are not concentrated in any hot-spots but are instead distributed throughout the genome. The most conspicuous loss is that of the haem-synthesis pathway. For long, removing haemin from the culture medium has been a standard procedure in cultivating trypanosomatids isolated from insects; continued growth was considered as an evidence of endosymbiont presence. However, we demonstrate that, despite bearing the endosymbiont, K. sorsogonicus cannot grow in culture without haem. Thus, the traditional test cannot be taken as a reliable criterion for the absence or presence of endosymbionts in trypanosomatid flagellates. It remains unclear why the ability to synthesize such an essential compound was lost in Ca. K. sorsogonicusi, whereas all other known bacterial endosymbionts of trypanosomatids retain them.

Modulation of antigen processing by haem-oxygenase 1. Implications on inflammation and tolerance.

Haem-oxygenase-1 (HO-1) is an enzyme responsible for the degradation of haem that can suppress inflammation, through the production of carbon monoxide (CO). It has been shown in several experimental models that genetic and pharmacological induction of HO-1, as well as non-toxic administration of CO, can reduce inflammatory diseases, such as endotoxic shock, type 1 diabetes and graft rejection. Recently, it was shown that the HO-1/CO system can alter the function of antigen-presenting cells (APCs) and reduce T-cell priming, which can be beneficial during immune-driven inflammatory diseases. The molecular mechanisms by which the HO-1 and CO reduce both APC- and T-cell-driven immunity are just beginning to be elucidated. In this article we discuss recent findings related to the immune regulatory capacity of HO-1 and CO at the level of recognition of pathogen-associated molecular patterns and T-cell priming by APCs. Finally, we propose a possible regulatory role for HO-1 and CO over the recently described mitochondria-dependent immunity. These concepts could contribute to the design of new therapeutic tools for inflammation-based diseases.

AtCOX10, a protein involved in haem o synthesis during cytochrome c oxidase biogenesis, is essential for plant embryogenesis and modulates the progression of senescence.

Cytochrome c oxidase (CcO) biogenesis requires several accessory proteins implicated, among other processes, in copper and haem a insertion. In yeast, the farnesyltransferase Cox10p that catalyses the conversion of haem b to haem o is the limiting factor in haem a biosynthesis and is essential for haem a insertion in CcO. In this work, we characterized AtCOX10, a putative Cox10p homologue from Arabidopsis thaliana. AtCOX10 was localized in mitochondria and was able to restore growth of a yeast Δcox10 null mutant on non-fermentable carbon sources, suggesting that it also participates in haem o synthesis. Plants with T-DNA insertions in the coding region of both copies of AtCOX10 could not be recovered, and heterozygous mutant plants showed seeds with embryos arrested at early developmental stages that lacked CcO activity. Heterozygous mutant plants exhibited lower levels of CcO activity and cyanide-sensitive respiration but normal levels of total respiration at the expense of an increase in alternative respiration. AtCOX10 seems to be implicated in the onset and progression of senescence, since heterozygous mutant plants showed a faster decrease in chlorophyll content and photosynthetic performance than wild-type plants after natural and dark-induced senescence. Furthermore, complementation of mutants by expressing AtCOX10 under its own promoter allowed us to obtain plants with T-DNA insertions in both AtCOX10 copies, which showed phenotypic characteristics comparable to those of wild type. Our results highlight the relevance of haem o synthesis in plants and suggest that this process is a limiting factor that influences CcO activity levels, mitochondrial respiration, and plant senescence.

Carbon monoxide exposure improves immune function in lupus-prone mice.

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by multiple alterations affecting the normal function of immune cells, such as lymphocytes, dendritic cells (DCs) and monocytes. Although the understanding of autoimmunity has significantly increased, the breakthrough in effective therapies has been modest, making necessary the development of new therapeutic strategies. Here we propose that a new potential target for therapy is haem oxygenase-1 (HO-1), an enzyme that catalyses the degradation of the haem group into biliverdin, carbon monoxide (CO) and Fe(2+) . These products exhibit immunosuppressive and anti-inflammatory effects, which can contribute to improving tolerance during organ transplantation. Because HO-1 is highly expressed by immune cells involved in SLE pathogenesis, such as monocytes and DCs, we evaluated whether induction of HO-1 expression or the administration of CO could ameliorate disease in the FcγRIIb knockout (KO) mouse model for SLE. We found that CO administration decreased the expansion of CD11b(+) cells, prevented the decline of regulatory T cells and reduced anti-histone antibodies observed in untreated FcγRIIb KO mice. Furthermore, CO-treated animals and HO-1 induction showed less kidney damage compared with untreated mice. These data suggest that HO-1 modulation and CO administration can ameliorate autoimmunity and prevent the lupus symptoms shown by FcγRIIb KO mice, highlighting HO-1 as a potential new target for autoimmune therapy.

Avaliação de características da carcaça e da qualidade da carne de queixada (Tayassu pecari [Link, 1795]) / Evaluation of carcass characteristics and meat quality of white-lipped peccary (Tayassu pecari [Link, 1795])

No presente trabalho, propôs-se avaliar os parâmetros de qualidade na carcaça e carne de queixadas adultas. Um total de quatro queixadas (três machos e uma fêmea), com peso vivo (PV) médio de 29,47 ± 3,45 kg, foi abatido, determinado o rendimento de carcaça quente (RCQ), e avaliada a área do olho do lombo (AOL), gordura de marmoreio (GM), espessura da gordura de cobertura (EGC), pH, perda de peso por cozimento (PPC), concentração de pigmentos heme totais (PHT) e composição centesimal no músculo Longissimus dorsi (LD). O RCQ em relação ao PV foi de 53,80 por cento, assemelhando-se aos índices observados em bovinos e búfalos, sendo encontrada uma quebra de peso de 3,22 por cento após refrigeração. O pH médio final, após 24 horas, foi de 5,54, dentro da faixa considerada normal para carnes suínas. Os valores médios obtidos para AOL (14,44 cm²) e EGC (3,75 mm) indicam um bom desenvolvimento muscular e uma menor proporção de gordura na carcaça, também evidenciada pela existência de traços de GM e pelo baixo conteúdo de lipídeos observados no lombo. De forma geral, o lombo apresentou composição média de 74,59 por cento de umidade, 20,25 por cento de proteína, 1,08 por cento de lipídeos e 1,17 por cento de cinzas, muito similares aos observados em animais convencionais. Os dados médios de PHT (69,49 ppm) e PPC (13,68 por cento) demonstram a qualidade da carne de queixada, uma vez que refletem no favorecimento da cor vermelha do produto final e em uma baixa perda de peso do corte, durante o preparo.

This work was carried out to evaluate carcass and meat quality attributes of adult white-lipped peccaries. A total of four white-lipped peccaries (three males and one female), with average of live weights (LW) of 29.47 ± 3.45 kg, were slaughtered and evaluated for hot carcass dressing (HCD), ribeye area (REA), rib fat thickness (RFT), intramuscular fat (marbling), pH, cook loss (CL), total haem pigments (THP) and proximate composition of Longissimus dorsi (LD). The HCD in relation to LW was of 53.80 percent and a shrink loss of 3.22 percent after 24 hours of refrigeration was found. The final pH (5.54) observed was considered normal for pork carcass. The REA (14.44 cm²) and RFT (3,75 mm) values indicate a good muscular development and a low proportion of fat in the carcass, also evidenced for marbling traces and low content of lipids observed in the LD. The loin proximate composition was: 74.59 percent of moisture; 20.25 percent of protein; 1.08 percent of ethereal extract; and 1.17 percent of ash. The THP (69.49 ppm) and CL (13.68 percent) values show the meat quality of the peccaries, since the THP are related to the red color of the meat and CL indicates a low loss of weight during cooking.