RESUMO
INTRODUCTION: Although the regular replacement of clotting factor concentrates (prophylaxis) has been well established as the standard of care for severe haemophilia, the high cost of factor concentrates has limited access to prophylaxis in countries with under-developed or developing economies. AIMS: We studied the health gap that could be addressed by providing unlimited access to clotting factor concentrates with implementation of long-term prophylaxis initiated from an early age in life. METHODS: We performed a cross-sectional study of a random, representative sample of boys with moderate and severe haemophilia at three haemophilia treatment centres in Sao Paulo, Brazil, and one centre in Toronto, Canada. RESULTS: Canadian subjects were more often treated with prophylaxis, and began treatment at an earlier age. Fewer Canadian subjects had bleeds within the preceding 6 months (19 vs. 34, P = 0.003). Canadian subjects had lower (better) Pettersson radiographic scores (1.5 vs. 6.0, P = 0.0016), lower (better) Hemophilia Joint Health Scores (5.5 vs. 10.5, P = 0.0038), higher (better) Activity Scale for Kids scores (96.6 vs. 92.0, P = 0.033), more time spent in vigorous activity, and higher (better) social participation scores. CONCLUSIONS: Our findings suggest that increasing access to clotting factor concentrates for young boys with severe haemophilia is a global imperative.
Assuntos
Efeitos Psicossociais da Doença , Países em Desenvolvimento , Recursos em Saúde , Hemofilia A/epidemiologia , Adolescente , Brasil/epidemiologia , Canadá/epidemiologia , Criança , Estudos Transversais , Indicadores Básicos de Saúde , Hemofilia A/diagnóstico , Hemofilia A/terapia , Humanos , Masculino , Qualidade de Vida , Índice de Gravidade de DoençaRESUMO
INTRODUCTION: Viscosupplementation can improve function in haemophilia patients. Viscosupplementation results can be improved by prior joint lavage and triamcinolone administration. AIM: To objectively assess whether viscosupplementation and associated triamcinolone use in patients with severe haemophilic arthropathy following joint lavage improves force and balance and reduces bleeding events. METHODS: Fourteen patients with haemophilic knee arthritis with and without the involvement of other joints underwent joint lavage and subsequent injections of Hylan G-F20 and triamcinolone into all affected joints. Patients were evaluated with NeuroCom® force and balance platforms using the step-up-and-over task (STP), sit-to-stand test (STS), one-leg stance (UNI) and weight-bearing squat (WBS) at baseline and at 1, 3, 6 and 12 months after the procedure. Bleeding events in the year prior to and the year after the procedure were analysed. RESULTS: Sixteen knees, 15 ankles, eight elbows and one shoulder were treated. The STP results indicated improvements in the lift-up indices (right leg) at all time points evaluated (P = 0.03). The STS results revealed coupled improvement in weight transfer and the rising index for up to a year (P = 0.02). Balance (UNI) with eyes open or closed improved in all evaluations. The WBS results revealed improvements at all degrees of flexion (0, P = 0.003; 30°, P = 0.001; 60°, P < 0.001 and 90°, P < 0.001). The numbers of total and traumatic bleeding events were reduced (P = 0.04). CONCLUSION: Joint lavage followed by injections of triamcinolone and Hylan G-F20 improved balance, function and bleeding events in severe haemophilic arthropathy patients.
Assuntos
Hemartrose/complicações , Hemofilia A/tratamento farmacológico , Triancinolona/uso terapêutico , Viscossuplementação/métodos , Adolescente , Adulto , Feminino , Humanos , Masculino , Triancinolona/administração & dosagem , Adulto JovemRESUMO
INTRODUCTION: It is essential to assess the health-related quality of life outcomes of boys with haemophilia in Brazil. The Canadian Haemophilia Outcomes-Kids Life Assessment Tool (CHO-KLAT) was recently adapted for this population. AIM: To test the construct validity of the Portuguese version of the CHO-KLAT. METHODS: We recruited 50 boys, with moderate [factor VIII (FVIII) level 1-5%] or severe (FVIII level <1%) haemophilia, to participate in a descriptive study to establish a baseline understanding of the current status of boys with haemophilia in Brazil. All boys were required to complete the Brazilian CHO-KLAT and Brazilian Pediatric Quality of Life Inventory (PedsQL) by self-report. We examined the correlation between the CHO-KLAT and PedsQL scores to establish the construct validity of the Brazilian version of the CHO-KLAT. RESULTS: We obtained CHO-KLAT and PedsQL data from 35 boys with severe haemophilia and 15 with moderate haemophilia. They ranged in age from 7.3 to 18.0 years, with a mean of 13.0 years. They reported a mean CHO-KLAT score of 72.3 (range = 44.1-93.9). The mean PedsQL score was 79.9 (range = 45.7-96.7), with physical health (mean of 83.9) being better than psychosocial health (77.8). The Pearson's correlation between CHO-KLAT and PedsQL was 0.47 respectively (P < 0.001). The CHO-KLAT had a moderate and inverse relationship with the degree to which they were bothered by their haemophilia (ρ = -0.53), while the PedsQL had a weaker relationship (ρ = -0.27). CONCLUSION: The results confirm the validity of the Portuguese version of the CHO-KLAT. This measure is now available for clinical trials in boys with haemophilia in Brazil.
Assuntos
Hemofilia A/tratamento farmacológico , Avaliação de Resultados em Cuidados de Saúde/métodos , Adolescente , Brasil , Criança , Humanos , Masculino , Qualidade de VidaRESUMO
Health-related quality of life (HRQoL) is an important outcome from the perspective of boys with haemophilia and their parents. Few studies have captured the HRQoL of boys with haemophilia in developing countries. This article reports on the cross-cultural adaptation of the Canadian Haemophilia Outcomes - Kids Life Assessment Tool (CHO-KLAT) for use in São Paulo, Brazil. The CHO-KLAT(2.0) was translated into Portuguese, and then translated back into English. The original English and back-translation versions were compared by a group of three clinicians, whose first language was Portuguese. The resulting Portuguese version was assessed through a series of cognitive debriefing interviews with children and their parents. This process identified concepts that were not clear and revised items to ensure appropriate understanding through an iterative process. The initial back-translation was not discrepant from the original English version. We made changes to 66% of the CHO-KLAT(2.0) items based on clinical expert review and 26% of the items based on cognitive debriefings. In addition, two new items were added to the final Portuguese version to reflect the local cultural context. The final result had good face validity. This process was found to be extremely valuable in ensuring the items were accurately interpreted by the boys/parents in São Paulo Brazil. The results suggest that professional translators, clinical experts and cognitive debriefing are all required to achieve a culturally appropriate instrument. The Portuguese CHO-KLAT(2.0) is well understood by Sao Paulo boys/parents. The next step will be to test its validity and reliability locally.
Assuntos
Hemofilia A/psicologia , Hemofilia B/psicologia , Qualidade de Vida , Adolescente , Brasil , Criança , Humanos , Entrevistas como Assunto , Masculino , Apoio Social , Inquéritos e Questionários , TraduçãoRESUMO
Psychosocial outcomes are important in the perspective of boys with haemophilia. However, health-related quality of life (HRQoL) is based on self-report, and assumes adequate literacy. Yet, literacy is rarely assessed prior to data collection. This study sought to identify criteria that might indicate the level of literacy of children being recruited for clinical trials and to develop a simple method to prescreen those whose literacy was uncertain. We developed a brief screening tool in the form of two stories, at a grade 3 reading level, followed by comprehension questions. We applied the screening test to a sample of haemophilic boys between the ages of 7 and 13 years to assess their literacy. The data were analysed to determine the best criteria to use in identifying the ability to independently self-report for HRQoL studies. Twenty-four Brazilian boys (7.9-12.8) completed the testing. The results showed that 17 (70.8%) were literate (were able to both read and comprehend), and could complete a questionnaire without assistance. All boys over 11.0 years of age were sufficiently literate. Grade level was not found to be a helpful criterion. We recommend that all children under the age of 11.0 years be prescreened before providing self-reported HRQoL data. Those with limited literacy should be provided assistance to ensure comprehension of the questions. This is important to ensure high-quality data on HRQoL for future clinical trials.
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Hemofilia A/psicologia , Hemofilia B/psicologia , Qualidade de Vida , Adolescente , Brasil , Criança , Escolaridade , Nível de Saúde , Humanos , Masculino , Inquéritos e QuestionáriosRESUMO
A balanced de novo translocation t(X;1) is described in a girl with severe haemophilia B. The translocated X was shown cytologically to be preferentially active, and methylation analysis of the DXS255 locus confirmed the skewed X-inactivation with the paternal allele being the active one. Cytogenetic and molecular analysis showed that this chromosomal rearrangement led to the deletion of at least part of the factor IX gene. Therefore, the girl was heterozygous for factor IX deficiency and expression of her clinical phenotype was the result of the inactivation of the normal maternal X chromosome. The localization of one of the X chromosome translocation breakpoints in YAC clone 957F9, that was demonstrated to map distally to the factor IX gene, revealed the complexity of this chromosomal rearrangement.
Assuntos
Cromossomos Humanos Par 1 , Fator IX/genética , Deleção de Genes , Hemofilia B/genética , Translocação Genética , Cromossomo X , Southern Blotting , Criança , Bandeamento Cromossômico , Mecanismo Genético de Compensação de Dose , Feminino , Heterozigoto , Humanos , Hibridização in Situ FluorescenteRESUMO
The authors describe a case of an infant with congenital factor X deficiency. The patient presented with a central nervous system hemorrhage followed by hydrocephalus. He underwent a ventriculoperitoneal shunt and, during the postoperative period, developed a spontaneous epidural hematoma, which was evacuated. The clinical and pathophysiological aspects of this case are discussed based on a literature review.
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Deficiência do Fator X/complicações , Hematoma Epidural Craniano/etiologia , Hidrocefalia/complicações , Hidrocefalia/cirurgia , Complicações Pós-Operatórias , Derivação Ventriculoperitoneal , Adulto , Hemorragia Cerebral/diagnóstico por imagem , Hemorragia Cerebral/etiologia , Hematoma/diagnóstico por imagem , Hematoma/etiologia , Hematoma Epidural Craniano/diagnóstico por imagem , Hematoma Epidural Craniano/cirurgia , Humanos , Hidrocefalia/diagnóstico por imagem , Masculino , Reoperação , Tomografia Computadorizada por Raios XRESUMO
We report a case of Streptococcus pyogenes meningitis in a 18 days year-old-girl with clinical course complicated by sagittal sinus thrombosis. Some aspects of the pathogenesis, treatment and follow-up of the disease are discussed. The world increase of serious streptococcal infections in the last 10 years, probably will become neonatal Streptococcus pyogenes meningitis more frequent in the future and it is important to be alert for the precocious diagnosis and the possible complications of that potentially lethal infection.