Fetal intracranial hemorrhage represents a rare event with an estimated prevalence of 1:10 000 pregnancies. We report a patient diagnosed prenatally with intracranial hemorrhage and ventriculomegaly carrying a novel, previously unreported, likely pathogenic variant in COL4A1. At the gestational age of 27 weeks, dilation of lateral ventricles was detected during a routine prenatal ultrasound scan, confirmed by prenatal MRI at 30 + 3 weeks of gestation. Prenatal examinations included amniocentesis with conventional G-band karyotyping and arrayCGH, and maternal testing for TORCH and parvovirus B19 infections. Virtual gene panel based on whole-exome sequencing data was performed postnatally. At the age of 2.5 months, the patient manifested epileptic seizures that remain difficult to control. Postnatal MRI showed partial thalamic fusion and polymicrogyria, in addition to severe enlargement of lateral ventricles, multiple deposits of hemosiderin in cerebral and cerebellar hemispheres, and thin optic nerve and chiasma. Virtual gene panel based on whole-exome sequencing data led to a detection of a de novo previously unreported in-frame deletion NM_001845.5:c.4688_4711del in COL4A1 located in the highly conserved NC1 domain initiating collagen helix assembly. The presented case lies one a more severe end of the COL4A1 mutation-related disease spectrum, manifesting as fetal intracranial bleeding, malformation of cortical development, drug-resistant epilepsy, and developmental delay.

• MeSH
• hydrocefalus * MeSH
• intrakraniální krvácení MeSH
• kojenec MeSH
• kolagen typu IV genetika   MeSH
• lidé MeSH
• mutace MeSH
• plod MeSH
• polymikrogyrie * genetika   MeSH
• těhotenství MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH

Inflammation is considered a fundamental process accompanying physiological human birth, also playing a role in perinatal pathologies. The goal of the study was to assess the concentrations of inflammatory molecules with respect to the mode of delivery and dynamics of inflammatory molecules in neonatal samples in the first 48-72 hours of life. The concentrations of inflammatory cytokines were measured using the Luminex®xMAP multi-analyte profiling platform in cord blood and peripheral neonatal blood. Study groups included newborns delivered spontaneously (spontaneous group) and via elective caesarean section (elective group). Cord blood concentrations of interleukin 6 (IL-6) and procalcitonin were significantly higher (P < 0.0001) in the spontaneous group compared to the elective group. Neonatal blood concentrations of tumour necrosis factor (TNF) from the elective group were significantly higher com-pared to the spontaneous group (P = 0.0077). The concentrations of procalcitonin and TNF significantly increased within the first 48 to 72 hours following either mode of delivery. IL-6 and IL-18 were significantly higher in neonatal compared to umbilical cord blood in the elective group only, while the increase in the spontaneous group did not reach statistical significance. The concentrations of IL-1α, IL-1β, IL-17A and IL-22 did not show significant differen-ces between the spontaneous and elective groups as well as between umbilical cord and neonatal blood. Our findings show physiological differences in the levels of inflammatory molecules following spontaneous vaginal delivery and elective caesarean section. The results can be used as baseline values for the research of various pathologies in newborns.

• MeSH
• císařský řez * MeSH
• fetální krev MeSH
• interleukin-6 * MeSH
• lidé MeSH
• novorozenec MeSH
• prokalcitonin MeSH
• těhotenství MeSH
• TNF-alfa MeSH
• vedení porodu metody   MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Mortality and morbidity of newborns with sepsis can be improved by early and accurate diagnosis and targeted therapy. To evaluate the early molecular events associated with inflammation and infection, we evaluated markers of endothelial activation and injury and circulating plasma miRNAs in preterm newborns with sepsis. The study group consisted of newborns with gestational age ≤ 32 weeks, with culture-positive early-onset neonatal sepsis (sepsis group, N = 8), and as a control group, we enrolled newborns without sepsis (control group, N = 12). Soluble markers of inflammation were measured using Luminex-based multiplex assay. Platelet-free plasma RNA was used to construct the library for miRNA sequencing analysis. Normalized counts were calculated and used to measure differential expression of individual detected miRNAs. We found a significant increase of interleukin 18 (IL-18) in the cord blood of the sepsis group (mean ± SEM, 104.7 ± 30.4 pg/ml vs 52.7 ± 5.6 pg/ml, P = 0.02). In peripheral blood of sepsis group patients, we found a significant increase of VEGF-A compared to controls (196.0 ± 70.5 pg/ml vs 59.6 ± 8.5 pg/ml, P = 0.02). In the cord blood plasma, eight miRNAs had significantly differential expression (P < 0.05), four miRNAs were up-regulated and four miRNAs down-regulated. In peripheral blood plasma, all nine miRNAs with significant differential expression were up-regulated. In conclusion, in early-onset neonatal sepsis, IL-18 and VEGF-A might be considered in diagnostic workup. Early-onset sepsis in preterm newborns is associated with significant changes in the circulating miRNA pattern.

• MeSH
• biologické markery metabolismus   MeSH
• interleukin-18 MeSH
• kojenec MeSH
• lidé MeSH
• mikro RNA * genetika   MeSH
• novorozenec MeSH
• novorozenecká sepse * diagnóza   MeSH
• sepse * diagnóza   genetika   MeSH
• vaskulární endoteliální růstový faktor A MeSH
• zánět MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH

The traumatic intracranial haemorrhage still remains a serious complication of instrumental deliveries with an uncertain prognosis. Regarding tentorial haemorrhage, surprisingly few clinical neurological data are available. Most of the references in literature are older case reports, associated frequently with an unfavourable outcome. We report a newborn after a serious tentorial haemorrhage with an excellent neurodevelopmental outcome. Computed tomography (CT) scan of our patient demonstrated an extensive bilateral tentorial haemorrhage extending to the foramen magnum. The newborn showed a good respiratory effort, but a neurological impairment including anisocoria, apathy, hypotonia, incomplete grasp and Moro reflex. Despite these signs, the development at 9 and 18 months of age was appropriate. The aim of this report is to accentuate that the prognosis of infants with tentorial haemorrhage should be always evaluated carefully with main respect to clinical signs. The outcome of the newborn even after a large tentorial haemorrhage can be surprisingly without a serious neurological deficit. Spontaneous breathing without support, normal blood pressure and absence of seizures are clinical indicators that may be associated with a good outcome despite an extensive tentorial haemorrhage. Mailing

• MeSH
• cerebrální krvácení diagnóza   etiologie   MeSH
• lidé MeSH
• novorozenec MeSH
• porodní poranění novorozence diagnóza   komplikace   MeSH
• porodnické kleště škodlivé účinky   MeSH
• prognóza MeSH
• těhotenství MeSH
• vedení porodu škodlivé účinky   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH