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1.
Neonatology ; : 1-8, 2024 Jun 21.
Article in English | MEDLINE | ID: mdl-38934161

ABSTRACT

INTRODUCTION: The SafeBoosC-III trial investigated the effect of cerebral oximetry-guided treatment in the first 72 h after birth on mortality and severe brain injury diagnosed by cranial ultrasound in extremely preterm infants (EPIs). This ancillary study evaluated the effect of cerebral oximetry on global brain injury as assessed by magnetic resonance imaging (MRI) at term equivalent age (TEA). METHODS: MRI scans were obtained between 36 and 44.9 weeks PMA. The Kidokoro score was independently evaluated by two blinded assessors. The intervention effect was assessed using the nonparametric Wilcoxon rank sum test for median difference and 95% Hodges-Lehmann (HL) confidence intervals (CIs). The intraclass correlation coefficient (ICC) was used to assess the agreement between the assessors. RESULTS: A total of 210 patients from 8 centers were included, of whom 121 underwent MRI at TEA (75.6% of alive patients): 57 in the cerebral oximetry group and 64 in the usual care group. There was an excellent correlation between the assessors for the Kidokoro score (ICC agreement: 0.93, 95% CI: 0.91-0.95). The results showed no significant differences between the cerebral oximetry group (median 2, interquartile range [IQR]: 1-4) and the usual care group (median 3, IQR: 1-4; median difference -1 to 0, 95% HLCI: -1 to 0; p value 0.1196). CONCLUSIONS: In EPI, the use of cerebral oximetry-guided treatment did not lead to significant alterations in brain injury, as determined by MRI at TEA. The strong correlation between the assessors highlights the potential of the Kidokoro score in multicenter trials.

2.
Int J Neonatal Screen ; 9(2)2023 Apr 23.
Article in English | MEDLINE | ID: mdl-37218889

ABSTRACT

Anti-Kell alloimmunisation is a potentially severe minor blood group type incompatibility, not only as a cause of haemolytic disease of the foetus and newborn, but also due to the destruction of red blood cells (RBC) and mature form in the bone marrow with the subsequent hyporegenerative anaemia. In severe cases and when the foetus shows signs of anaemia, an intrauterine transfusion (IUT) may be necessary. When repeated, this treatment can suppress erythropoiesis and worsen the anaemia. We report the case of a newborn who required four IUTs plus an additional RBC transfusion at one month of life due to late onset anaemia. The identification of an adult haemoglobin profile with a complete absence of foetal haemoglobin in the patient's newborn screening samples at 2 and 10 days of life warned us of a possible late anaemia. The newborn was successfully treated with transfusion, oral supplements and subcutaneous erythropoietin. A blood sample taken at 4 months of life showed the expected haemoglobin profile for that age with a foetal haemoglobin of 17.7%. This case illustrates the importance of a close follow-up of these patients, as well as the usefulness of the haemoglobin profile screening as a tool for anaemia assessment.

3.
N Engl J Med ; 388(16): 1501-1511, 2023 Apr 20.
Article in English | MEDLINE | ID: mdl-37075142

ABSTRACT

BACKGROUND: The use of cerebral oximetry monitoring in the care of extremely preterm infants is increasing. However, evidence that its use improves clinical outcomes is lacking. METHODS: In this randomized, phase 3 trial conducted at 70 sites in 17 countries, we assigned extremely preterm infants (gestational age, <28 weeks), within 6 hours after birth, to receive treatment guided by cerebral oximetry monitoring for the first 72 hours after birth or to receive usual care. The primary outcome was a composite of death or severe brain injury on cerebral ultrasonography at 36 weeks' postmenstrual age. Serious adverse events that were assessed were death, severe brain injury, bronchopulmonary dysplasia, retinopathy of prematurity, necrotizing enterocolitis, and late-onset sepsis. RESULTS: A total of 1601 infants underwent randomization and 1579 (98.6%) were evaluated for the primary outcome. At 36 weeks' postmenstrual age, death or severe brain injury had occurred in 272 of 772 infants (35.2%) in the cerebral oximetry group, as compared with 274 of 807 infants (34.0%) in the usual-care group (relative risk with cerebral oximetry, 1.03; 95% confidence interval, 0.90 to 1.18; P = 0.64). The incidence of serious adverse events did not differ between the two groups. CONCLUSIONS: In extremely preterm infants, treatment guided by cerebral oximetry monitoring for the first 72 hours after birth was not associated with a lower incidence of death or severe brain injury at 36 weeks' postmenstrual age than usual care. (Funded by the Elsass Foundation and others; SafeBoosC-III ClinicalTrials.gov number, NCT03770741.).


Subject(s)
Infant, Extremely Premature , Infant, Premature, Diseases , Oximetry , Humans , Infant , Infant, Newborn , Brain Injuries/diagnostic imaging , Brain Injuries/etiology , Bronchopulmonary Dysplasia/etiology , Cerebrovascular Circulation , Infant, Premature, Diseases/diagnosis , Infant, Premature, Diseases/mortality , Infant, Premature, Diseases/therapy , Oximetry/methods , Cerebrum , Ultrasonography , Retinopathy of Prematurity/etiology , Enterocolitis, Necrotizing/etiology , Neonatal Sepsis/etiology
6.
Nutrients ; 11(3)2019 Mar 06.
Article in English | MEDLINE | ID: mdl-30845641

ABSTRACT

Vegetarian and vegan diets have increased worldwide in the last decades, according to the knowledge that they might prevent coronary heart disease, cancer, and type 2 diabetes. Althought plant-based diets are at risk of nutritional deficiencies such as proteins, iron, vitamin D, calcium, iodine, omega-3, and vitamin B12, the available evidence shows that well planned vegetarian and vegan diets may be considered safe during pregnancy and lactation, but they require a strong awareness for a balanced intake of key nutrients. A review of the scientific literature in this field was performed, focusing specifically on observational studies in humans, in order to investigate protective effects elicited by maternal diets enriched in plant-derived foods and possible unfavorable outcomes related to micronutrients deficiencies and their impact on fetal development. A design of pregestational nutrition intervention is required in order to avoid maternal undernutrition and consequent impaired fetal growth.


Subject(s)
Diet, Vegan/adverse effects , Diet, Vegetarian/adverse effects , Infant, Newborn, Diseases/etiology , Malnutrition/etiology , Pregnancy Complications/etiology , Female , Fetal Growth Retardation/etiology , Humans , Infant, Newborn , Lactation , Maternal Nutritional Physiological Phenomena , Micronutrients/deficiency , Nutritional Requirements , Pregnancy
7.
Hum Mutat ; 38(6): 615-620, 2017 06.
Article in English | MEDLINE | ID: mdl-28256047

ABSTRACT

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare cause of pulmonary hypertension in newborns. Maternally inherited point mutations in Forkhead Box F1 gene (FOXF1), deletions of the gene, or its long-range enhancers on the maternal allele are responsible for this neonatal lethal disorder. Here, we describe monozygotic twins and one full-term newborn with ACD and gastrointestinal malformations caused by de novo mutations of FOXF1 on the maternal-inherited alleles. Since this parental transmission is consistent with genomic imprinting, the parent-of-origin specific monoallelic expression of genes, we have undertaken a detailed analysis of both allelic expression and DNA methylation. FOXF1 and its neighboring gene FENDRR were both biallelically expressed in a wide range of fetal tissues, including lung and intestine. Furthermore, detailed methylation screening within the 16q24.1 regions failed to identify regions of allelic methylation, suggesting that disrupted imprinting is not responsible for ACDMPV.


Subject(s)
Forkhead Transcription Factors/genetics , Genomic Imprinting , Persistent Fetal Circulation Syndrome/genetics , Pulmonary Alveoli/abnormalities , Comparative Genomic Hybridization , DNA Methylation/genetics , Female , Humans , Hypertension, Pulmonary , Infant, Newborn , Maternal Inheritance/genetics , Mutation , Persistent Fetal Circulation Syndrome/complications , Persistent Fetal Circulation Syndrome/pathology , Pregnancy , Pulmonary Alveoli/pathology , Twins, Monozygotic
8.
Pediatr. catalan ; 71(4): 149-152, oct.-dic. 2011. ilus
Article in Spanish | IBECS | ID: ibc-99703

ABSTRACT

Introducción. Son bien conocidos los efectos deletéreos directamente asociados a la intoxicación etílica aguda, así como su asociación con factores comórbidos como son el consumo simultáneo de otras sustancias tóxicas o los traumatismos graves. Observación clínica. Adolescente de 17 años traída a urgencias por intoxicación etílica aguda que es dada de alta tras recuperación íntegra. Reconsulta a las 24 horas del alta por cefalea intensa que, junto con el hallazgo de un hemotímpano izquierdo en la exploración física, hace sospechar la presencia de una lesión intracraneal que se confirma mediante neuroimagen. Comentarios. La dificultad que supone realizar una adecuada anamnesis por el estado del paciente con una intoxicación etílica aguda y la amnesia que ocasiona el etanol a partir de determinadas concentraciones en sangre facilitan que pasen desapercibidas lesiones internas en una primera valoración. El caso presentado trata de poner de manifiesto como la exploración física sistemática es uno de los pilares básicos en el examen clínico del paciente intoxicado por etanol, permitiendo dirigir la petición de pruebas complementarias que habitualmente son poco necesarias en el manejo de la mayoría de los casos (AU)


Introduction. The deleterious effects directly associated with acute ethylic intoxication are well-known, as well as their association with comorbid factors such us simultaneous consumption of other toxic substances or to serious traumatism. Clinical observation. 17-year-old teenager who presented with acute ethylic intoxication to Emergency Department was discharged after complete recovery. She re-consulted 12 hours later with severe headache. In her physical exploration was detected a left hemotympanum. A traumatic brain injury was suspected and it was confirmed by neuroimage. Comments. The physical conditions of patients with acute ethylic intoxication and the amnesia caused by certain blood ethanol concentrations make anamnesis difficult and it’s easy that some internal injuries been unnoticed in the first evaluation. The case presented tries to reveal that a physical systematic exploration is one of the basis in the clinical examination of the patient intoxicated by ethanol, allowing to assess if there are complementary tests required, which does not happen in most of the cases (AU)


Subject(s)
Humans , Male , Female , Adolescent , Alcoholic Intoxication/complications , Alcoholic Intoxication/epidemiology , Wounds and Injuries/complications , Headache/complications , Neuroimaging/methods , Head Injuries, Penetrating/complications , Emergencies/epidemiology , Alcoholic Intoxication/prevention & control , Intracranial Hemorrhages/complications , Neuroimaging/trends , Neuroimaging
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