New health care demands directed at children with chronic conditions have been demanded mainly after the Zika virus epidemic. Given this, the Brazilian states have produced plans to cope with this congenital infection...New health care demands directed at children with chronic conditions have been demanded mainly after the Zika virus epidemic. Given this, the Brazilian states have produced plans to cope with this congenital infection. In the state of Rio de Janeiro, the elaborated plan had as one of its actions a training proposal for physiotherapists, speech therapists and occupational therapists, focusing on early stimulation and focused on the health care network, especially primary care and specialized rehabilitation centers. Thus the purpose of this article is to describe the impact of a response strategy to Zika virus congenital infection, based on the multi-professional training proposal in earlier stimulation in the public health attention network of Rio de Janeiro State. Descriptive study, observational from the earlier stimulation training course to the public health attention network of Rio de Janeiro State as a coping action to the health care of children with Zika virus congenital infection. At the time of writing, partial results are available after 11 classes were performed. Based on the analysis of the evaluation form of the 11 courses taught by professionals of a referral hospital in Rio de Janeiro and student form, using the Excel program, 299 health network professionals were qualified, from 56 different municipalities of RJ, mostly females (n = 259;86.82%). 175 physiotherapists (59%), 88 speech therapists (29%), 32 occupational therapists (11%) and 4 academics or other professional backgrounds (1%). The articulation between the different levels of public assistance, specifically: primary, secondary and tertiary, in this context assumes a fundamental action for good practices being undertaken considering the population’s health demands. Especially in relation to childhood chronic disease conditions, this action permited the building of lines of care that meet the population’s health demands so that in any of a child’s entry points on the assistance network, either prevention or treatment of the aggravated cases, there is integration of the actions and a better resolving response. It could be also identified that the strategy covered both the primary health attention team and the specialized rehabilitation team equally, composing one more important dialogue point to build an articulated and integrated assistance network.展开更多
Pompe disease (PD) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that comprises glycogen breakdown mainly in the lysosomes. Since the introduction of enzyme replacement ...Pompe disease (PD) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that comprises glycogen breakdown mainly in the lysosomes. Since the introduction of enzyme replacement therapy (ERT), with recombinant human GAA for the early onset PD patient, a relevant field of clinical research due to the benefits regarding survival rate has been widely documented worldwide. Objective: To describe the clinical characteristics and the ERT effects in a series of Brazilian patients with infantile onset PD (IOPD) under ERT. Methods: Brazilian patients diagnosed with IOPD under ERT were recruited through their physicians participating in the International Pompe Disease Registry from 2009 to 2017. Data were collected by an online survey. Results: 10 IOPD patients were identified through the survey with a death rate of 30% and technology dependency rate reported as 80% (motor, respiratory or nutritional fields) of the patients. After the third year of ERT, motor disabilities were lost in 50% of ambulated patients. The overall characteristics were similar to international studies. Conclusion: Despite ERT benefits in cardiac involvement, motor disabilities seem to be much more compromised in IOPD patients, with high technology dependence, especially after three years of age.展开更多
After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions...After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPD patient and its correlation with clinical conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal observational study of an IPD case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker—glucose tetrasaccharide (Glc4)—was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. Descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value < 0.05. Results: After ERT beginning amelioration of the cardiomyopathy with reduced left ventricle mass index (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPD patients. Although GAA antibodies level remained above the recommended titers and fluctuating elevation of Glc4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of Glc4 appeared long after a transitory intercurrence. Conclusion: In an IPD case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies need to be conducted.展开更多
文摘New health care demands directed at children with chronic conditions have been demanded mainly after the Zika virus epidemic. Given this, the Brazilian states have produced plans to cope with this congenital infection. In the state of Rio de Janeiro, the elaborated plan had as one of its actions a training proposal for physiotherapists, speech therapists and occupational therapists, focusing on early stimulation and focused on the health care network, especially primary care and specialized rehabilitation centers. Thus the purpose of this article is to describe the impact of a response strategy to Zika virus congenital infection, based on the multi-professional training proposal in earlier stimulation in the public health attention network of Rio de Janeiro State. Descriptive study, observational from the earlier stimulation training course to the public health attention network of Rio de Janeiro State as a coping action to the health care of children with Zika virus congenital infection. At the time of writing, partial results are available after 11 classes were performed. Based on the analysis of the evaluation form of the 11 courses taught by professionals of a referral hospital in Rio de Janeiro and student form, using the Excel program, 299 health network professionals were qualified, from 56 different municipalities of RJ, mostly females (n = 259;86.82%). 175 physiotherapists (59%), 88 speech therapists (29%), 32 occupational therapists (11%) and 4 academics or other professional backgrounds (1%). The articulation between the different levels of public assistance, specifically: primary, secondary and tertiary, in this context assumes a fundamental action for good practices being undertaken considering the population’s health demands. Especially in relation to childhood chronic disease conditions, this action permited the building of lines of care that meet the population’s health demands so that in any of a child’s entry points on the assistance network, either prevention or treatment of the aggravated cases, there is integration of the actions and a better resolving response. It could be also identified that the strategy covered both the primary health attention team and the specialized rehabilitation team equally, composing one more important dialogue point to build an articulated and integrated assistance network.
文摘Pompe disease (PD) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that comprises glycogen breakdown mainly in the lysosomes. Since the introduction of enzyme replacement therapy (ERT), with recombinant human GAA for the early onset PD patient, a relevant field of clinical research due to the benefits regarding survival rate has been widely documented worldwide. Objective: To describe the clinical characteristics and the ERT effects in a series of Brazilian patients with infantile onset PD (IOPD) under ERT. Methods: Brazilian patients diagnosed with IOPD under ERT were recruited through their physicians participating in the International Pompe Disease Registry from 2009 to 2017. Data were collected by an online survey. Results: 10 IOPD patients were identified through the survey with a death rate of 30% and technology dependency rate reported as 80% (motor, respiratory or nutritional fields) of the patients. After the third year of ERT, motor disabilities were lost in 50% of ambulated patients. The overall characteristics were similar to international studies. Conclusion: Despite ERT benefits in cardiac involvement, motor disabilities seem to be much more compromised in IOPD patients, with high technology dependence, especially after three years of age.
文摘After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPD patient and its correlation with clinical conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal observational study of an IPD case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker—glucose tetrasaccharide (Glc4)—was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. Descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value < 0.05. Results: After ERT beginning amelioration of the cardiomyopathy with reduced left ventricle mass index (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPD patients. Although GAA antibodies level remained above the recommended titers and fluctuating elevation of Glc4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of Glc4 appeared long after a transitory intercurrence. Conclusion: In an IPD case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies need to be conducted.
