ResumoObjetivo: O desfecho de pacientes não é somente determinado pelo índice de gravidade de doença, mas também pelo impacto do estado pré-admissão de comorbidade dos pacientes. Portanto, este artigo buscou avaliar o desfecho de pacientes tratados em uma unidade de terapia intensiva pediátrica, com foco especial no grupo de crianças com doenças crônicas. Métodos:Os dados foram obtidos prospectivamente, e o desfecho foi avaliado segundo a escala Pediatric Overall Performance Category para 449 pacientes de uma unidade de terapia intensiva pediátrica do Split University Hospital. O desempenho funcional foi avaliado como o escore pré-admissão e o escore na alta hospitalar em pacientes com alterações neurodesenvolvimentais, com outras doenças crônicas e sem doença crônica.Resultados: O estado funcional à alta hospitalar foi significativamente dependente do estado funcional pré-admissão e da mortalidade prevista. Crianças com alterações neurodesenvolvimentais apresentaram escore basal significativamente pior e deterioração de morbidade funcional na alta hospitalar significativamente menor, comparadas com crianças sem doença crônica e com crianças com outras doenças crônicas. Conclusões:A escala Pediatric Overall Performance Category demonstrou sua aplicabilidade em uma pequena unidade de terapia intensiva com uma população heterogênea de pacientes. Deve, portanto, ser considerada para avaliação regular de qualidade de cuidados à saúde como uma ferramenta simples e precisa. Ao contrário do que acontece com outros pacientes, o estado funcional de crianças com alterações neurodesenvolvimentais foi marcadamente influenciado por sua comorbidade. Seu estado pré-admissão foi pior do que o de outras crianças e, por isso, não poderia estar significativamente deteriorado na alta hospitalar.J Pediatr (Rio J). 2008;84(3):232-236: Criança, cuidados críticos, doença crônica, qualidade de cuidados à saúde, avaliação de desfecho. AbstractObjective: Outcome of patients is determined not only by severity of illness index, but also by the impact of patients' preadmission comorbid status. Therefore, we aimed at evaluating the outcome of patients treated in a pediatric intensive care unit, with special focus on the group of children with chronic diseases.Methods: Data were obtained prospectively and outcome was assessed according to the Pediatric Overall Performance Category scale for 449 patients in a pediatric intensive care unit of the Split University Hospital. Functional performance was assessed as the preadmission score and the discharge score in patients with neurodevelopmental disabilities, patients with other chronic diseases, and those without chronic disease. Results:The discharge functional status was significantly dependent on the preadmission functional status and on predicted mortality. Children with neurodevelopmental disabilities had the significantly worse baseline score and the significantly smaller deterioration of functional morbidity at discharge compared to children with no chronic disease and children with other c...
Glucose-6-phosphate dehydrogenase (G6PD) deficiency protects from severe forms of malaria. It is interesting therefore to analyze the molecular basis underlying G6PD deficiency in regions such as the Mediterranean basin where malaria was present for a long time in history. Here we report on the genetic characterization of G6PD deficiency among inhabitants of one Mediterranean region-the Dalmatian region of south Croatia. We analyzed 24 unrelated G6PD-deficient male subjects. Molecular testing revealed several different mutations: G6PD Cosenza 9, G6PD Mediterranean 4, G6PD Seattle 3, G6PD Union 3, and G6PD Cassano 1. Furthermore, we have identified one novel G6PD variant that we named G6PD Split. This variant is caused by a nucleotide change 1442 C fi G leading to the amino acid substitution 481 Pro fi Arg and is characterized by moderate enzyme deficiency (class III variant). This study reveals a higher prevalence (37.5%) of the Cosenza mutation in the Dalmatian region than anywhere else previously investigated and overall shows the considerable molecular heterogeneity underlining G6PD deficiency that can be observed in Mediterranean populations.
Pompe disease is characterized by deficiency or absence of activity of the lysosomal enzyme acid alpha-glucosidase. As a result of ineffective metabolism, glycogen progressively accumulates in muscle tissues. Patients with an aggressive classic infantile-onset form generally rapidly die of cardiorespiratory failure. A cross-reactive immunological material (CRIM)-negative status is predictive of high anti-alglucosidase alfa antibody titers and usually a poor clinical outcome of enzyme replacement therapy (ERT). CRIM-positive patients can also develop robust antibody titers complicating therapeutic management.We successfully used an immune modulation therapy (IMT) protocol in a CRIM-positive infantile-onset patient with Pompe disease in whom infusions had to be temporarily discontinued because of safety concerns despite administration of pre-infusion medication. Prior to discontinuation, she had shown signs of clinical deterioration and continuous ventilation support through a tracheostomy was required. She was found to be positive for anti-alglucosidase alfa antibodies (1:6,400). IMT (rituximab, methotrexate and intravenous gamma globulin) was started, ERT was safely reintroduced during the IMT induction phase and, subsequently, the enzyme dose was increased, all without any complications. Antibodies disappeared, IMT was tapered and discontinued, and cadiomyopathy steadily improved. During 1 year of follow-up, she remained ventilator dependent and no gains in motor skills were noticed; motor functions will be closely monitored during sustained ERT.Although the reversal of clinical decline in our CRIM-positive and antibody-positive infant with Pompe disease cannot be solely attributed to IMT, our experiences with this protocol may be helpful to other physicians encountering comparable therapeutic dilemmas.
Background:Neonatal hyperbilirubinemia is a common clinical manifestation of the inherited glucose-6-phosphate dehydrogenase (G6PD) deficiency.Aim of the study:The aim of this study was to investigate the influence of the inherited G6PD deficiency on the appearance of neonatal hyperbilirubinemia in southern Croatia.Methods:The fluorescent spot test (FST) was used in a retrospective study to screen blood samples of 513 male children who had neonatal hyperbilirubinemia, of unknown cause, higher than 240 μmol/L. Fluorescence readings were performed at the beginning and at the fifth and tenth minute of incubation and were classified into three groups bright fluorescence (BF), weak fluorescence (WF) and no fluorescence (NF). Normal samples show bright fluorescence. All NF and WF samples at the fifth minute were quantitatively measured using the spectrophotometric method.Results:Bright fluorescence was present in 461 patients (89.9%) at the fifth minute. The remaining 52 (10.1%) were quantitatively estimated using the spectrophotometric method. G6PD deficiency was observed in 38 patients (7.4%).Conclusions:Prevalence rate of G6PD deficiency among male newborns with hyperbilirubinemia in southern Croatia is significantly higher (p < 0.01) compared with the previously reported prevalence rate among male in general population of southern Croatia (0.75%). We recommend FST to be performed in hyperbilirubinemic newborns in southern Croatia.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.