Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome.

OBJECTIVE: Superoxide dismutase 1 (SOD1) is an important antioxidant enzyme whose main function is to neutralise superoxide free radicals in the cytoplasm. Heterozygous variants in SOD1 are responsible for a substantial percentage of familial amyotrophic lateral sclerosis (ALS) cases. Recently, several reports have shown that biallelic loss of SOD1 function results in a novel phenotype called infantile SOD1 deficiency syndrome, which is consistent with a recessive pattern of inheritance and can be distinguished from typical (adult-onset) ALS. METHODS: We documented detailed family histories and clinical data, followed by whole-exome sequencing and family co-segregation analysis through Sanger sequencing. To facilitate comparisons, relevant data from fifteen previously reported patients with SOD1-related neurodevelopmental disorders were included. RESULTS: This study presents a new Turkish family with two affected children exhibiting severe delayed motor development, infancy-onset loss of motor skills, axial hypotonia, tetraspasticity, and impaired cognitive functions. Genetic analysis revealed a novel homozygous frameshift variant in SOD1 (c.248dupG [p.Asp84Argfs*8]), with computational biochemical studies shedding light on the mechanistic aspects of SOD1 dysfunction. CONCLUSIONS: Our findings contribute an affirmative report of a fourth biallelic variant resulting in a severe clinical phenotype, reminiscent of those induced by previously identified homozygous loss-of-function SOD1 variants. This research not only advances our understanding of the pathogenesis of this debilitating neurological syndrome but also aligns with ongoing intensive efforts to comprehend and address SOD1-linked ALS.

Do we really ponder about necessity of intravenous hydration in acute bronchiolitis? / Debemos reflexionar sobre la necesidad de una hidratación intravenosa en la bronquiolitis aguda?

Objective: The goal was to establish the role of intravenous hydration therapy on mild bronchiolitis. Methods: This was a retrospective case control study. Infants between 1 month and 2 years of age admitted to our general pediatrics ward between June 2012 and June 2013 with a diagnosis of uncomplicated acute bronchiolitis were enrolled to the study. Hospital medical files were reviewed to get information about children personal history, symptoms of the disease, disease severity scores and their management. Patients were classified into 4 groups according to the management; nebulized short-acting β2-agonist (salbutamol) +hydration; nebulized short-acting β2-agonist (salbutamol); hydration and neither bronchodilator nor hydration. We examined length of stay in the hospital as an outcome measure. Results: A total of 94 infants were studied. There was no significant difference between groups in terms of length of stay in hospital. Conclusions:IV hydration is not effective on length of stay in hospital in mild acute bronchiolitis patients.

Objetivo: Establecer la función de la terapia de hidratación intravenosa leve. Métodos: Estudio descriptivo retrospectivo. En el estudio fueron reclutados niños entre 1 mes y 2 años de edad atendidos en la sala de pediatría general entre junio 2012 y junio 2013, con diagnóstico de bronquiolitis aguda no complicada. Se revisaron historias médicas de los niños para obtener datos personales, síntomas de la enfermedad, grado de severidad y el manejo instaurado. Los pacientes fueron clasificados en cuatro grupos de cuerdo al manejo: hidratación + nebulización de corta acción con β2-agonista (salbutamol); nebulización de corta acción con β2agonista (salbutamol); hidratación; o sin hidratación y broncodilatador. Se determinó la duración de la estancia hospitalaria como medida resultado. Resultados: Un total de 94 niños fueron estudiados. No hubo diferencia significativa entre los grupos en términos de duración de la estancia en el hospital. Conclusiones: La hidratación IV no es efectiva en la duración de la estancia hospitalaria en pacientes con bronquiolitis aguda leve.

Passive smoking increases pain perception in children undergoing venous catheterization.

AIM: To establish whether there is any association between passive smoking and pain perception in children, in the absence of existing studies into possible links. METHODS: This single-centre study focused on 100 children - 50 who had been exposed to passive smoking and 50 who had not - who were admitted to general polyclinics from September 2012 to December 2012 and needed venous catheterization. Patients with chronic diseases, neurologic and psychiatric illnesses, communication problems and analgesic use in the last 24 h were excluded. The passive smoking group had a mean age of 7.3 years (56% male) and the nonpassive smoking group had a mean age of 7.7 years (44% male). The main study parameter was the Wong-Baker faces pain rating scale (WBFPS) score during catheterization. RESULTS: There was a statistically significant difference between the pain perceptions of the 100 children studied and smoke exposure. The WBFPS scores of the 50 children who were passive smokers were significantly higher than the scores of the 50 who were not passive smokers (p = 0.00). CONCLUSION: Passive smoking increases pain perception in children during invasive medical procedures.