Inherited metabolic disorders have a specific place among cases of sudden deterioration of the newborn’s condition. Therapies have been developed for some of these disorders. Accurate verification of the diagnosis is extremely important for choosing an optimal treatment strategy. However, treatment is not always successful due to the rapid progression of symptoms. We report a case of citrullinemia diagnosed in a newborn in Vidnoye Perinatal Center.
The study established a pattern of changes in neurovascular biomarkers in children who underwent perinatal hypoxia in order to optimize the prognosis of neurological disorders in children in the long term. Materials and methods. 419 patients aged 1 to 6 months were examined, 2 age groups 1-3 and 4-6 months were identified, the physical and psychomotor development of each subject was analyzed, and groups of mild, medium and severe forms of lesion were identified; a quantitative assessment of the biochemical markers of the neurovascular component of the pathogenesis of CNS lesion was carried out with the identification of the boundaries of the formation of processes. Results. The direct dependence of changes in indicators of biochemical markers on the degree of CNS damage was established.
Diagnostics of hereditary diseases is one of the important tasks of the perinatal center (PC) team. Functioning conditions of PC pediatric departments allow to verify the diagnosis early, so doctors and parents of a child can receive complete information about the state of his health and development prognosis as early as possible. Over the past year, researchers observed two newborns with Joubert syndrome (JS). The difficulty in JS diagnosing is the incomplete implementation of clinical symptoms or even their absence during the neonatal period. In newborns, this diagnosis can only be made with brain magnetic resonance imaging (MRI) and consulting a geneticist. Symptoms in this pathology differ in their severity when examining older children. Apnea, oculomotor disorders, muscle hypotonia, hearing disorders are more common, and sometimes there may be delayed intellectual development. JS is diagnosed on the basis of neurological examination, brain MRI, molecular genetic studies. In the literature, there were no description of JS in newborns. Diagnostic criteria for JS can be defined as oculomotor disorders, muscle hypotension, and respiratory failure. The opportunity to consult specialists – a neurologist, geneticist, ophthalmologist, ultrasound examinations as quickly as possible, determination of tactics of further examination and management of the child will increase the detection of genetic diseases, including JS, at the earliest stage of observation.
Objective of the study: to determine the timing of optimal delivery and to identify the features of the course of the neonatal period in children from mothers with placental accreta. Materials and methods of research: the analysis of medical records of 140 children of mothers with placental accreta (main group) and 60 newborns of mothers without placental accreta (comparison group) of various gestational ages (GA), born in the period of 2014–2020, was carried out. The paper presents the results of a single-center retrospective non-randomized continuous comparative study. Results: the effect of GA on the length of the newborn's stay in the neonatal intensive care and intensive care units (ICU) and the hospital as a whole was confirmed. The dependence of the need for respiratory support in newborns on the gestational age was confirmed: with a decrease in GA, the need for respiratory support in newborns increases statistically significantly (p=0.0011), the need for traditional mechanical ventilation in newborns increases statistically significantly (p<0.001). When analyzing the frequency of occurrence of asphyxia, no statistically significant differences were found in the main group and in the comparison group. There were no statistically significant differences (p=0.229) in the body weight of newborns developing during pregnancy complicated by placenta previa compared with newborns born to mothers without a placental invasion anomalies. As a result of our study, there were no statistically significant differences in the length of stay in ICU and hospital for newborns of the same GA of the main group and the comparison group.
In this article we report a case of pericallosal lipoma in a newborn with fetal alcohol syndrome, brain malformation (agenesis of the corpus callosum), and intrauterine infection (meningitis) diagnosed in a perinatal center.
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.