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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. AIM: We followed up the clinical, radiological, and serum biochemical markers of metabolic bone disease in extremely preterm infants (<28 weeks of gestation). The clinical applicability and validation of C-terminal telopeptide of type I collagen (CTX-I) as a novel bone turnover marker were assessed. Standard and novel biochemical bone turnover markers and quantitative ultrasound were compared. METHOD: Patients' data were collected from medical records. Assessments of calcium, phosphate, alkaline phosphatase, bone-alkaline phosphatase, CTX-I, and quantitative ultrasound were prospectively performed twice in 42 extremely preterm infants at postmenstrual ages of 30-32 weeks and 36-40 weeks. Bone mineral density was measured by quantitative ultrasound. CONCLUSION: Phosphate, alkaline phosphatase, bone alkaline phosphatase, calcium, or ionized calcium are not related to gestational age, but bone mineral density, measured by quantitative ultrasound, is related. There is no correlation between standard and novel biochemical markers and quantitative ultrasound for the identification of metabolic bone disease.

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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. Functional connectomes from the alpha frequency band were calculated for each subject and the differences in network graph metrics between the 2 groups were analyzed. Our results suggest that the functional brain networks of children with perinatal stroke show evidence of disruption even years after the insult and that the scale of changes appears to be influenced by the lesion volume. The networks remain more segregated and show a higher synchronization at both whole-brain and intrahemispheric level. Total interhemispheric strength was higher in children with perinatal stroke compared with healthy controls.

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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. RESULTS: A total of 112 newborns (N = 68; 61% boys) were included. Hypoxic-ischaemic encephalopathy (N = 42; 29%) was the most common seizure aetiology; GCE (with pathogenic variants KCNQ2, KCNQ3, SCN2A, TBC1D24, CHD2, and STXBP) was diagnosed in 9 (6%). The group of newborns with GCE significantly differed from the group with seizures with other aetiologies in terms of family history of epilepsy (p = 0.000), neonatal epileptic status (NES) (p = 0.007), normal imaging studies (p = 0.000), and outcomes (p = 0.034), but did not differ regarding the type and age of seizure onset, number of antiepileptic drugs administered, and EEG results. Positive family history of epilepsy (p = 0.027), presence of NES (p = 0.041), and normal imaging studies (p = 0.002) were most indicative of the diagnosis of GCE. Probability of GCE with this combination was 0.92. CONCLUSION: In a heterogenous group of newborns with seizures, a positive family history of epilepsy, presence of NES, and normal imaging studies were most indicative of the diagnosis of GCE.

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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. Correlations with the anthropometrical measures and bone health status in their infants were studied. Bone health was evaluated using QUS with the measurements of speed of sound (SOS, in m/s) and Z score on the right tibia. RESULTS: There was no significant association between maternal 25OHD and newborn's anthropometrical measures at birth (weight p=0.35, length p=0.59 and head circumference p=0.47). There was a significant negative correlation between a maternal serum adiponectin and a) weight of infants at birth (R= -0.37, p=0.002); b) birth length (R= -0.31, p=0.008) and c) head circumference (R= -0.29, p=0.014). There was no significant correlation between maternal 25OHD blood levels during pregnancy and SOS in newborns (p=0.48). Additionally, a correlation between maternal adiponectin concentration during pregnancy and SOS in newborns was not significant (p=0.82). CONCLUSION: Although a high prevalence of low 25OHD level among pregnant women was found, maternal vitamin D status did not influence growth and bone health of their offspring at birth. Maternal adiponectin levels in plasma showed an inverse relationship with anthropometrical measures of infants at birth, while no correlation with the newborn's bone health was found.

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