An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) is a devastating neurometabolic disorder, usually lethal in the first years of life. Autosomal recessive mutations in the SLC25A1 gene, which encodes the mitochondrial citrate carrier (CIC), were previously detected in patients affected with combined D/L-2-HGA. We showed that transfection of deficient fibroblasts with wild-type SLC25A1 restored citrate efflux and decreased intracellular 2-hydroxyglutarate levels, confirming that deficient CIC is the cause of D/L-2-HGA. We developed and implemented a functional assay and applied it to all 17 missense variants detected in a total of 26 CIC-deficient patients, including eight novel cases, showing reduced activities of varying degrees. In addition, we analyzed the importance of residues affected by these missense variants using our existing scoring system. This allowed not only a clinical and biochemical overview of the D/L-2-HGA patients but also phenotype-genotype correlation studies.

Late ventriculoperitoneal shunt infection caused by Shewanella algae.

We present a case of ventriculitis and peritonitis in a child with ventriculoperitoneal shunt, which occurred 5 years after the surgery. The infection developed after contact with seawater and began as otitis. For the first time, Shewanella algae, a marine microorganism, was identified as the cause of ventriculoperitoneal shunt infection.

Desfecho funcional de crianças tratadas em unidade de terapia intensiva / Functional outcome of children treated in intensive care unit

OBJETIVO: 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.

OBJECTIVE: 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 chronic diseases. CONCLUSIONS: The Pediatric Overall Performance Category scale has proved its applicability in a small intensive care unit, with a heterogeneous population of patients. It should therefore be considered for regular evaluation of health care quality, as a simple and accurate tool. As opposed to other patients, functional status of children with neurodevelopmental disabilities was markedly influenced by their comorbidity. Their preadmission status was worse than the status of other children, and hence could not significantly deteriorate at discharge.