EEG alpha band functional brain network correlates of cognitive performance in children after perinatal stroke.

Mechanisms underlying cognitive impairment after perinatal stroke could be explained through brain network alterations. With aim to explore this connection, we conducted a matched test-control study to find a correlation between functional brain network properties and cognitive functions in children after perinatal stroke. First, we analyzed resting-state functional connectomes in the alpha frequency band from a 64-channel resting state EEG in 24 children with a history of perinatal stroke (12 with neonatal arterial ischemic stroke and 12 with neonatal hemorrhagic stroke) and compared them to the functional connectomes of 24 healthy controls.

Diagnostics of Metabolic Bone Disease in Extremely Preterm Infants-Clinical Applicability of Bone Turnover Biochemical Markers and Quantitative Ultrasound.

Background: Significant improvement in neonatal care has enabled increasing survival of preterm infants. Metabolic bone disease of prematurity is often overlooked due to other comorbidities of preterm birth. The best approach is screening and prevention of the disease in high-risk infants such as preterm infants.

Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation.

Aicardi-Goutières syndrome (AGS) is a rare genetic early-onset progressive encephalopathy with variable clinical manifestations. The mutation has been confirmed to be responsible for type I interferon production and activation of the Janus kinase signaling pathway. We herein stress neurological observations and neuroimaging findings in a severe case report of an infant with AGS type 7 due to an mutation who was diagnosed in the first month of life.

EEG functional connectivity after perinatal stroke.

Impaired cognitive functioning after perinatal stroke has been associated with long-term functional brain network changes. We explored brain functional connectivity using a 64-channel resting-state electroencephalogram in 12 participants, aged 5-14 years with a history of unilateral perinatal arterial ischemic or haemorrhagic stroke. A control group of 16 neurologically healthy subjects was also included-each test subject was compared with multiple control subjects, matched by sex and age.

Age related changes and sex related differences of functional brain networks in childhood: A high-density EEG study.

Objective: The aim of this study was to explore functional network age-related changes and sex-related differences during the early lifespan with a high-density resting state electroencephalography (rs-EEG).

Methods: We analyzed two data sets of high-density rs-EEG in healthy children and adolescents. We recorded a 64-channel EEG and calculated functional connectomes in 27 participants aged 5-18 years.

Case report: pneumonia in a severe case of Aicardi-Goutières syndrome with an gain-of-function mutation mimicking combined immunodeficiency.

Aicardi-Goutières syndrome (AGS) is a genetically determined early-onset progressive encephalopathy caused by mutations leading to overexpression of type I interferon (IFN) and resulting in various clinical phenotypes. A gain-of-function (GOF) mutation in the gene is associated with robust production of type I IFN and activation of the Janus kinase (JAK) signal transducer and activator of the transcription (STAT) pathway, which can cause AGS type 7. We detail the clinical case of an infant who initially presented with pneumonia (PCP), had recurrent respiratory infections, and was later treated with a JAK inhibitor, baricitinib, because of a genetically confirmed GOF mutation in the gene.

The influence of maternal levels of vitamin D and adiponectin on offspring's health.

Background: From the very beginning of life, biological events in the intrauterine environment influence the developing child, its growth, maturation and adaptation. The aim of this study was to assess the impact of maternal vitamin D and adiponectin status on offspring growth, general and bone health.

Methods: 162 healthy pregnant women were included in the study, with their vitaminD and adiponectin levels measured in the 32 nd week of pregnancy.

Genetic Polymorphisms, Gene-Gene Interactions and Neurologic Sequelae at Two Years Follow-Up in Newborns with Hypoxic-Ischemic Encephalopathy Treated with Hypothermia.

Inflammation and oxidative stress after hypoxic-ischemic brain injury may be modified by genetic variability in addition to therapeutic hypothermia. The aim of our study was to evaluate the association between the polymorphisms in genes of antioxidant and inflammatory pathways in newborns treated with therapeutic hypothermia and the development of epilepsy or CP at two years follow-up. The DNA of 55 subjects was isolated from buccal swabs.

Genetic-cellular epilepsy: Clues to diagnosing newborns with neonatal seizures.

Objective: The aim of this study was to analyse clinical characteristics of newborns with genetic-cellular epilepsy (GCE) to compare them to those of newborns with seizures with other aetiologies and elucidate clues to the diagnosis of GCE.

Methods: This retrospective single-centre study analysed data from an 8-year cohort of newborns with seizures from 2010-2017. Clinical, neurophysiological, laboratory, and imaging data and outcomes of children with GCE were compared to those of newborns with seizures with other aetiologies.

and Polymorphisms Influence MRI Brain Patterns in Newborns with Hypoxic-Ischemic Encephalopathy Treated with Hypothermia.

Inflammation and oxidative stress are recognized as important contributors of brain injury in newborns due to a perinatal hypoxic-ischemic (HI) insult. Genetic variability in these pathways could influence the response to HI and the outcome of brain injury. The aim of our study was to evaluate the impact of common single-nucleotide polymorphisms in the genes involved in inflammation and response to oxidative stress on brain injury in newborns after perinatal HI insult based on the severity and pattern of magnetic resonance imaging (MRI) findings.

The Influence of Maternal Levels of Vitamin D and Adiponectin on Anthropometrical Measures and Bone Health in Offspring.

Background: From the conception onward, certain parameters associated with maternal health may affect foetal body composition, growth and bone mineral content. The objective of the study was to determine the association between maternal vitamin D and adiponectin status with the anthropometrical measures of newborns, and bone health status measured by Quantitative Ultrasound (QUS) at birth.

Methods: Circulating 25OHD and adiponectin concentration were measured in 73 pregnant women.

Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti.

Aim: To report on the neurological presentation and neuroimaging findings in newborn infants with incontinentia pigmenti.

Method: The clinical and neurological course including neuroimaging and follow-up data of eight newborn infants with the neurological phenotype of incontinentia pigmenti were retrospectively reviewed.

Results: While the clinical picture was polymorphic, the neurological manifestations were defined as encephalopathic and comprised lethargy and seizures in all but one of the infants.

Vitamin D Status and Its Determinants in Healthy Slovenian Pregnant Women.

Background/aims: Vitamin D deficiency is a common underdiagnosed condition. The aim of this was to analyze the status of vitamin D and its determinants in healthy Slovenian pregnant women.

Methods: A total of 132 volunteer pregnant women completed a questionnaire including baseline demographics, food frequency, physical activities; anthropometrical measurements, body mass index and levels of 25-(OH)D in serum were performed during the third trimester, and dietary intakes were assessed during the 27-28th week of gestation.

Neuroimaging and neurodevelopmental outcome of preterm infants with a periventricular haemorrhagic infarction located in the temporal or frontal lobe.

Aim: The aim of the study was to compare clinical and neuroimaging characteristics and neurodevelopmental outcome in preterm infants with a periventricular haemorrhagic infarction (PVHI) located in the temporal or frontal periventricular white matter.

Method: The study was a retrospective hospital-based study of preterm infants with a frontal PVHI (n=21; 11 males, 10 females; mean birthweight 1527g; mean gestational age 30.3wks) or temporal PVHI (n=13; five males, eight females; mean birthweight 1205g; mean gestational age 30.

Risk factors and scoring system as a prognostic tool for epilepsy after neonatal seizures.

Background: Neonatal seizures may cause irreversible changes to the immature brain and. A scoring system for early prognostic information could be a useful clinical tool. The aim of the study was to analyze risk factors for epilepsy after neonatal seizures, to validate Garfinkle's scoring system, and to analyze whether a new scoring system is feasible.

Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.

Benign familial neonatal convulsions (BFNC) is a rare, clinically and genetically heterogenous epileptic disorder. Two voltage gated potassium genes, KCNQ2 and KCNQ3, have been identified as genes responsible for BFNC1 and BFNC2 respectively. While as many as 73 mutations of KCNQ2 have been described up to date, only 4 mutations in KCNQ3, 3 of them appearing in exon 5, have been identified.