The correlation between the concentration of the inflammatory markers IL-6 and tTNF-α in umbilical cord blood at 22-34 weeks of gestation and acute RDS, and the death of preterms was determined. Significant values of umbilical cord blood IL-6 and tTNF-α concentration for predicting the lethal outcome in the later adaptation of preterms were determined.
BackgroundMevalonate kinase deficiency is a metabolic autoinflammatory syndrome caused by mutations in the MVK gene, mevalonate kinase, the key enzyme in the non-sterol isoprenoid biosynthesis pathway. Two phenotypes of mevalonate kinase deficiency are known based on the level of enzymatic deficiency, mevalonic aciduria and hyperimmunoglobulinemia D syndrome, but a wide spectrum of intermediate phenotypes has been reported. Currently one of the most effective treatments is biological therapy (with interleukin-1 antagonist anakinra or tumour necrosis factor-α inhibitor etanercept).Case presentationThe patient in this case has a phenotype contributing to a severe disease that caused the symptoms to manifest very early, in the prenatal period. Mevalonate kinase deficiency was suspected on the basis of clinical (hydrops fetalis, hepatosplenomegaly, hypotonia) and laboratory signs (anaemia, intense acute phase reaction, increased urinary excretion of mevalonic acid). Mutation analysis of the MVK gene confirmed the biochemical diagnosis. Treatment with the interleukin-1 antagonist anakinra was started (minimal dose of 1 mg/kg/day) and revealed its efficacy after three days.ConclusionsOur case highlights the need for a very detailed clinical and laboratory assessment in new-borns with any suggestion of autoinflammatory disorders. It is important that patients are diagnosed as early as possible to provide better multidisciplinary follow-up and therapy when needed.
The purpose of this study was to analyse body size indices of newborns in Vilnius city (Lithuania) during 2005-2010 in relation with mother's education and ethnicity, and in parallel with the changes of socio-economic situation during the recent years. The present results were based on data (N = 18,084) from the Vilnius University Clinic of Obstetrics and Gynaecology. Comparison of the present Lithuanian data with other newborn studies was made. The analysis of socio-economic and demographic indicators of Lithuania, and the comparison of Gross Domestic Product of various countries was performed. The comparison of body size of newborns' data from the different countries showed that Lithuanian newborns were among the biggest babies. Some statistically significant differences in body size of newborns from different ethnic groups were established. Body length of Lithuanian newborns (M = 52.6 cm, SD = 2.5) was higher than length of Russian, Ukrainian and Romanian newborns. Body weight of Lithuanian newborns (M = 3511 g, SD = 485) was bigger than birth weight of Russian, Polish, Ukrainian and Romanian newborns. The analysis of newborns size by mother's education showed that body weight of neonates from mothers with the university education and from each other education group was bigger in comparison with the babies from respectively lower education group. The comparison of newborns weight by mother's ethnicity in relation to education level revealed nearly no discrepancies between size of newborns from mothers with the same education level at different ethnic group. The analysis of birth parameters by year has not established a statistically significant difference between the mean values for the body weight and body length of the whole investigated contingent of the full-term, single-birth newborns from Vilnius city during the 2005-2010. However, the tendency has been revealed that newborns from mothers with lower education were the most susceptible to negative economic changes after the 2008.
Background.By two years of age, almost all children experience at least one episode of respiratory syncytial virus (RSV) infection, the most common viral cause of hospitalisation due to lower respiratory tract infection (LRTI). We present data on LRTI hospitalisations (with a special focus on RSV), the course of illness, and LRTI hospitalisation risk factors in Lithuania, Latvia, and Estonia.Materials and methods.The analysed data were part of a large multinational study conducted in 23 countries (PONI). LRTI-related hospitalisations were observed during one RSV season for late premature infants (born between 33 weeks and 0 days and 35 weeks and 6 days of gestation) ≤6 months of age, who did not receive RSV prophylaxis. The potential risk factors and demographics were recorded at study enrolment and at the end of the RSV season. The primary endpoint was hospitalisation due to RSV LRTI; the secondary endpoints included severity, the course and the outcome of LRTI hospitalisations.Results.Out of the 291 infants enrolled in three Baltic states, 19 were hospitalised due to LRTI (6.5%). RSV testing was performed for 14 hospitalised infants; five infants had a positive test for RSV (1.7%). The majority of the hospitalised infants (94.7%) had mild or moderate respiratory illness. Male sex, O2 dependency after birth, younger maternal age, and furred pets at home were significantly associated with an increased risk for LRTI hospitalisation.Conclusions.During one RSV season, the incidence of LRTI hospitalisations among late preterm infants was 6.5% and the incidence of RSV LRTI hospitalisations was 1.7%.
Restrictive dermopathy (RD) is a rare lethal autosomal recessive genodermatosis, characterized by abnormally rigid skin with prominent superficial vasculature, erosions and epidermal hyperkeratosis, dysplastic clavicles, joint contractures, mouth fixed in the 'O' position, small pinched nose, and neonatal death. Mutations of ZMPSTE24 and LMNA genes are reported as the causes of RD, with those of ZMPSTE24 being more prevalent. Here, we report on a familial c.50delA (p.Lys17Serfs*21) mutation of the ZMPSTE24 gene, causing RD in two siblings.
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