[Prognostic utility of inflammatory indexes in critically ill newborns]. / Utilidad pronóstica de los índices inflamatorios en recién nacidos críticamente enfermos.

Background: Critically ill newborns (NB) are susceptible to serious complications due to their immature immune system. Objective: To know the prognostic utility of inflammatory indexes in critically ill NBs. Material and methods: Observational, analytical, longitudinal, prospective study. We included NBs hospitalized, critically ill and non-critically ill, who had a complete blood count at 12 hours of life (initial) and within 24 hours prior to discharge due to improvement or death (final). Systemic immune-inflammatory Index (SII), Neutrophil/Lymphocyte Ratio (NLR) and Platelets/Lymphocyte Ratio (PLR) were analyzed. There was follow-up from birth to discharge. Results: 211 patients of 33 (32-34) weeks of gestation, weight 1.569 (1.480-1.720) kg. 106 critical NB and 105 non-critical NB, with 50 deaths in the former group, were analyzed. The final NLR ≥ 1.38 (sensitivity [S] 58%, specificity [Sp] 58%, AUC 0.60 [p 0.006]) identified critically ill NBs compared to non-critical ill NBs; final NLR ≥ 1.84 (S 71%, Sp 71%, AUC 0.79 [p < 0.0001]) identified critically ill NBs who died compared to all those who survived; final SII ≥ 255.411 x 103 (S 55%, Sp 56%, AUC 0.60 [p 0.047]) and final NLR ≥ 1.75 (S 76%, Sp 76%, AUC 0.84 [p < 0.0001]) identified critical NBs who died from those who survived. Conclusion: The final NLR predicts which NBs may perish with respect to all who survive. The final NLR and SII predict among critically ill NBs who may die.

Introducción: los recién nacidos (RN) críticamente enfermos son susceptibles de mal pronóstico debido a su sistema inmunitario inmaduro. Objetivo: conocer la utilidad pronóstica de los índices inflamatorios en RN críticamente enfermos. Material y métodos: estudio observacional, analítico, longitudinal, prospectivo. Incluimos RN hospitalizados, críticamente enfermos y no críticos, que contaran con biometría hemática completa a las 12 horas de vida (inicial) y dentro de las 24 horas previas al egreso por mejoría o defunción (final). Se analizó el Índice inmunosistémico (IIS), neutrófilos linfocitos (INL) y plaquetas linfocitos (IPL). Hubo seguimiento desde el nacimiento hasta el egreso. Resultados: se analizaron 211 pacientes, de 33 (32-34) semanas de gestación, peso 1.569 (1.480-1.720) kg; 106 RN críticos y 105 no críticos, con 50 defunciones en los primeros. El INL final ≥ 1.38 (sensibilidad [S] 58%, especificidad [E] 58%, ABC 0.60 [p 0.006]) identificó RN críticamente enfermos con respecto a RN no críticos; INL final ≥1.84 (S 71%, E 71%, ABC 0.79 [p < 0.0001]) identificó RN críticamente enfermos que fallecieron con respecto a todos los que sobrevivieron; el IIS final ≥ 255.411 x 103 (S 55%, E 56%, ABC 0.60 [p 0.047]) e INL final ≥ 1.75 (S 76%, E 76%, ABC 0.84 [p < 0.0001]) identificaron a RN críticamente enfermos que fallecieron con respecto a los que sobrevivieron. Conclusiones: el INL final predice que RN pueden fallecer con respecto a todos los que sobreviven. El INL y el IIS finales predicen entre los RN críticamente enfermos quiénes pueden fallecer.

The Effects of Probiotics and Prebiotics on Gastrointestinal and Behavioural Symptoms in Autism Spectrum Disorder.

BACKGROUND: Autism Spectrum Disorders (ASDs) are a group of prevalent neuropsychiatric disorders. They present a complex and unknown etiology, which in most cases includes significant peripheral alterations outside the brain such as in the composition of gut microbiota. Because the gut microbiota is involved in modulating the gut-brain axis, several studies have suggested that the microbiome in the gut can modify metabolites which are able to cross the blood-brain barrier and modulate brain function. METHODS: We reviewed the current evidence regarding microbiota alterations in patients with ASD and the effects of the administration of probiotics and prebiotics in these patients, both in terms of gastrointestinal and behavioural symptoms. RESULTS: Administration of a probiotic formulation containing different strains of Lactobacillus (L. acidophilus, L. rhamnosus, and others) and Bifidobacteria had beneficial effects upon these aforementioned symptoms and their use is recommended in a subgroup of ASD patients that present gastrointestinal disturbances. Nonetheless, the types of gastrointestinal disturbances that most benefit from such interventions remain to be elucidated in order to personalize the medical approaches. CONCLUSION: Recent clinical studies have shown that probiotic treatments can regulate the gut microbiota and may result in improvements in some behavioral abnormalities associated with ASD. Trials using prebiotic fibers or synbiotics preparations are still lacking and necessary in order to deep in such therapeutic strategies in ASD with comorbid gastrointestinal disrturbances.

First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder.

Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed as a metabolic decompensation, presenting as hypoketotic hypoglycemia, Reye syndrome, or sudden infant death; in childhood, PCD presents with skeletal or cardiac myopathy. However, the clinical presentation of PCD characterized by autism spectrum disorder (ASD) with intellectual disability (ID) has seldom been reported in the literature. In this report, we describe the clinical features of a seven-year-old girl diagnosed with PCD who presented atypical features of the disease, including a developmental delay involving language skills, concentration, and attention span, as well as autistic features and brain alterations apparent in magnetic resonance imaging. We aim to highlight the difficulties related to the diagnostic and therapeutic approaches used to diagnose such patients. The case reported here presented typical signs of PCD, including frequent episodes of hypoglycemia, generalized muscle weakness, decreased muscle mass, and physical growth deficits. A molecular genetic study confirmed the definitive diagnosis of the disease (c.1345T>G (p.Y449D)) in gene SLC22A5, located in exon 8. PCD can be accompanied by less common clinical signs, which may delay its diagnosis because the resulting global clinical picture can closely resemble other metabolic disorders. In this case, the patient was prescribed a carnitine-enriched diet, as well as oral carnitine at a dose of 100 mg/kg/day. PCD has a better prognosis if it is diagnosed and treated early; however, a high level of clinical suspicion is required for its timely and accurate diagnosis.