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Background Congenital cytomegalovirus (cCMV) infection of the central nervous system (CNS) can cause ventriculomegaly, gliosis, calcifications and cortical defects. Detection of CMV DNA in cerebrospinal fluid by PCR (CSF-CMV-PCR) is a marker of CNS involvement. Objective To evaluate a diagnostic value of the positive CSF-CMV-PCR in cCMV. Methods Analysis of clinical, laboratory, neuroimaging and single-nucleotide polymorphisms (SNPs) data according to the results of CSF-CMV-PCR were performed in infants with cCMV. Results A total of 168 infants were included; 145 (86.3%) had negative and 23 (13.7%) had positive CSF-CMV-PCR results. Associations between the positive CSF-CMV-PCR results and prematurity (odds ratio [OR] = 3.24; 95% confidence interval [CI]: 1.30-8.07), microcephaly (OR = 5.67; 95% CI: 2.08-15.41), seizures (OR = 4.15; 95% CI: 1.10-15.67), sensorineural hearing loss (OR = 6.6; 95% CI: 2.49-17.46), splenomegaly (OR = 8.13; 95% CI: 3.12-21.16), hepatitis (OR = 10.51; 95% CI: 3.31-33.35), petechiae (OR = 10.21; 95% CI: 3.78-27.57) and heterozygous T/C genotype at TLR4rs4986791 (OR = 7.88; 95% CI: 1.55-40.12) were observed. When using a multivariate logistic regression analysis, only the presence of severe sensorineural hearing loss (OR = 7.18; 95% CI: 1.75-29.34, P = 0.006), cystic lesions on MRI (OR 5.29; 95% CI: 1.31-21.36, P = 0.02), and calcifications on MRI (OR = 7.19; 95% CI: 1.67-30.97, P = 0.008) remained as the significant independent predictors of the positive CSF-CMV-PCR results. Conclusions The detection of CMV DNA in CSF is associated with a higher rate of CNS damage including abnormal MRI neuroimaging and severe hearing loss. Therefore, detection of CMV DNA in CSF may be considered as a marker of severe CNS injury in cCMV infection. However, the very low prevalence of the positive CSF-CMV-PCR results, even in infants with proven CNS involvement, may imply its limited role in clinical practice.

Background Antiviral treatment is recommended for symptomatic newborns with congenital cytomegalovirus infection (cCMV). Objectives To compare 2 treatment methods in neonates with cCMV - ganciclovir-based therapy (intravenous ganciclovir (GCV) or sequential GCV + valganciclovir (VGCV) therapy) with oral VGCV-based therapy - in Polish neonates. Material and methods A total of 98 symptomatic infants with cCMV (positive HCMV DNA in urine ≤21st day of life) hospitalized in the neonatal intensive care unit (NICU) between 2012 and 2017 were enrolled. Clinical characteristics, the viral load in blood and urine, hematological and biochemical tests, neuroimaging results, and the length of hospitalization were compared between the study groups at baseline and at the 2nd hospitalization. Results In 2012, GCV was used in 57% of the cases, sequential therapy in 33% and VGCV in 10%. In 2017, VGCV monotherapy was used in 83% of the infants treated. Valganciclovir treatment allowed the length of hospitalization to be shortened over 2.5 times during the six-year observation period. Infants treated intravenously had lower birth weights and head circumferences, and more frequently presented splenomegaly, petechiae, thrombocytopenia, and hepatitis. The baseline viral load in the blood and urine were similar in both groups, but at follow-up visits 4-6 weeks later, a viral load about 70 times lower was observed in the blood of the VGCV-based group (1029 viral copies/mL compared to 72,188 viral copies/mL in the GCV-based group; p = 0.04). The prevalence of neutropenia was similar in both groups at the follow-up visits. Conclusions Valganciclovir became the first line of antiviral therapy in cCMV in the study population. Compared to GCV-based therapy, VGCV monotherapy allowed shorter hospital stays and reduced the viral load in blood due to continuing treatment at home. Valganciclovir monotherapy did not provoke more side effects such as neutropenia. Intravenous GCV is still suitable for patients with severe disseminated disease, born prematurely, with low birth weights, or not tolerating enteral feeding. In those infants, the sequential therapy seems to be optimal.

Background There are limited data on factors that determine viral load (VL) in congenital cytomegalovirus (cCMV) infection. Single nucleotide polymorphisms (SNPs) might influence individual host response to infection. This study aimed to investigate the association between SNPs in genes encoding cytokines or cytokine receptors and VL in newborns with cCMV. Material and methods Eight polymorphisms (IL1B rs16944, IL12B rs3212227, IL28B rs12979860, CCL2 rs1024611, DC-SIGN rs735240, TLR2 rs5743708, TLR4 rs4986791 and TLR9 rs352140) were analyzed in study population of 233 newborns, including 92 cCMV-infected newborns (73 symptomatic and 19 asymptomatic) by TaqMan SNP Predesigned Genotyping Assays. The association analysis was performed using SNPStats software and STATISTICA10. Results The association between IL12B polymorphism and viruria was observed (p = 0.029). In multiple comparison tests, heterozygous T/G genotype of IL12B was associated with higher viruria than T/T genotype (p = 0.041) in cCMV-infected newborns. In allele analysis, T allele of IL12B was associated with higher viremia (p = 0.037) in symptomatic newborns. We observed higher VL in symptomatic newborns in comparison to asymptomatic (median viremia: 1.7 × 104 copies/mL vs. 2.0 × 103 copies/mL (p = 0.002), median viruria: 1.0 × 107 copies/mL versus 6.9 × 105 copies/mL (p = 0.001), respectively). Conclusions IL12B rs3212227 was associated with VL in cCMV. Symptomatic newborns had significantly higher viremia and viruria. The role of SNPs in pathogenesis of cCMV warrants further investigations.

Bone mineralization can be influenced by genetic factors, hormonal status, nutrition, physical activity and body composition. The association of higher calcium (Ca) intake or Ca supplementation with better bone mineral density (BMD) remains controversial. Furthermore, it has been speculated that maintaining long-term adequate Ca intake rather than having a brief supplementation period is more effective. The aim of the study was to prospectively analyse the influence of adequate Ca intake on BMD at 7 years of age in European children.Data from the Childhood Obesity Project were analysed in a prospective longitudinal cohort trial. Dietary intake was recorded using 3-day food records at 4, 5 and 6 years of age. The probability of adequate intake (PA) of Ca was calculated following the American Institute of Medicine guidelines for individual assessments, with FAO, WHO and United Nations University joint expert consultation dietary recommendations. Children were categorised as having high Ca PA (PA95%) or not (PA95%). At 7 years, whole body (WB) and lumbar spine (LS) BMD were measured in the Spanish subsample by dual-energy x-ray absorptiometry. Internal BMD z-scores were calculated; BMD below -1 z-score were considered to indicate osteopenia, and BMD z-scores below -2, "low bone mineral density for age".BMD was measured in 179 children. Ca intake at 6 years was positively correlated with LS BMD at 7 years (R = 0.205, p = 0.030). A Ca increase of 100 mg/day explained 19.4% (p = 0.011) of the LS BMD z-score variation, modifying it by 0.089 (0.021, 0.157) units. Children with Ca PA95% at 5 and 6 or from 4 to 6 years of age showed higher BMD z-scores at the LS and WB levels than children with Ca PA95% (p 0.001 and p 0.05 for LS and WB BMD, respectively). Ca PA95% maintained over 2 years explained 26.3% of the LS BMD z-score variation (p 0.001), increasing it by 0.669 (0.202, 1.137). PA95% maintained over 3 years explained 24.9% of the LS BMD z-score variation, increasing it by 0.773 (0.282, 1.264). The effects of Ca adequacy on WB BMD were similar. Children with PA95% over 2 years had an Odds ratio of 13.84 and 12 for osteopenia at the LS and WB levels, respectively (p = 0.001).Long periods of adequate Ca intake in childhood increase BMD and reduce osteopenia risk. The Childhood Obesity Project clinical trial (CHOP) was registered at clinicaltrials.gov as NCT00338689.

Summary Background In European countries, suboptimal intake has been reported for several micronutrients (as calcium, iron, zinc, vitamin B12, D and folate) in both adulthood and childhood. No studies to date have prospectively compiled nutrient intake from healthy children in different European countries using the same methodology. Aim To describe the adequacy of micronutrient intake during the first eight years of life in children from 5 European countries. Methods Prospective observational trial analyzing data from the EU Childhood Obesity Project. Infants were enrolled within the first two months of life and were followed regularly to age 8 years. Dietary intake was collected periodically with 3-day food records. Nutrient intake adequacy was estimated for calcium, phosphorus, iron, zinc, magnesium, iodine, folate and vitamins B12, A and D, following the American Institute of Medicine (IOM) guidelines at group (prevalence of adequacy >80%) and individual (high probability of adequate intake >80% of the children) level; the assessment was based on the Estimated Average Requirements of nutrients of the FAO, WHO and United Nations University (FAO/WHO/UNU) or the IOM if FAO/WHO/UNU data were not available. Results Intake data were available for a decreasing number of children, from 904 at 3 months to 396 at 8 years. Iron, iodine, folate and vitamin D were inadequately consumed when assessing adequacy at group level; at individual-level less than 80% of the children showed high probability of adequate intake for iron, iodine, folate and zinc at all ages, and calcium from 12 months onwards. Conclusions Accurate dietary intake and adequacy assessment methodology in this prospective cohort of European children found iron, calcium, vitamin D, folate, iodine and zinc to be inadequately consumed in childhood, as described previously by epidemiologic studies. Further studies are needed to elucidate health consequences of these deficiencies. CHOP trial was registered at clinicaltrials.gov as NCT00338689 .

Vitamin K deficiency bleeding (VKDB) is a rare and potentially life-threatening disorder. Infants suffering from cholestasis constitute a risk group of vitamin K deficiency due to intestinal malabsorption defects. The paper presents a case of late-onset VKDB as a result of biliary atresia in an infant.

Congenital cytomegalovirus (cCMV) infection is the most common intrauterine infection. A non-specific immune response is the first line of host defense mechanism against human cytomegalovirus (HCMV). There is limited data on associations between Single Nucleotide Polymorphisms (SNPs) in genes involving innate immunity and the risk and clinical manifestation of cCMV infection. The aim of the study was to investigate association between selected SNPs in genes encoding cytokines and cytokine receptors, and predisposition to cCMV infection including symptomatic course of disease and symptoms. A panel of eight SNPs: IL1B rs16944, IL12B rs3212227, IL28B rs12979860, CCL2 rs1024611, DC-SIGN rs735240, TLR2 rs5743708, TLR4 rs4986791, TLR9 rs352140 was analyzed in 233 infants (92 cCMV-infected and 141 healthy controls). Associations between genotyped SNPs and predisposition to cCMV infection and symptoms were analyzed. The association analysis was performed using SNPStats software. No statistically significant association was found between any genotyped SNPs and predisposition to cCMV infection and symptomatic course of disease. In relation to particular symptoms, polymorphism of IL12B rs3212227 was linked to decreased risk of prematurity (OR = 0.37;95%CI,0.14-0.98;p = 0.025), while polymorphism of IL1B rs16944 was linked to reduced risk of splenomegaly (OR = 0.36;95%CI,0.14-0.98; p = 0.034) in infants with cCMV infection. An increased risk of thrombocytopenia was associated with IL28B rs12979860 polymorphism (OR = 2.55;95%CI,1.03-6.32;p = 0.042), while hepatitis was associated with SNP of TLR4rs4986791 (OR = 7.80;95%CI,1.49-40,81; p = 0.024). This is the first study to demonstrate four new associations between SNPs in selected genes (IL1B, IL12B, IL28B, TLR4) and particular symptoms in cCMV disease. Further studies on the role of SNPs in the pathogenesis of cCMV infection and incorporation of selected SNPs in the clinical practice might be considered in the future.

Beckwith-Wiedemann syndrome is an overgrowth syndrome complicated both phenotypically and genetically. The aim of the study is to present a few cases of newborn babies with B-W syndrome in order to let especially neonatologists and pediatricians follow the diagnostic process. It may make it easier for them to suggest the diagnosis of this syndrome. According to an increased risk for embryonal tumor development, the prophylaxis needs to be taken as well. Children with B-W syndrome need a multi-specialty care.

Trichothiodystrophy (TTD) is a group of predominantly autosomal recessive disorders characterized by sulfur-deficient brittle hair. Clinical features of TTD consist of variable neuroectodermal symptoms including ichthyosis, nail abnormalities, mental retardation, short stature, decreased fertility and proneness to infections. Approximately half of the reported patients with TTD have clinical and cellular photosensitivity associated with mutations in three subunits (ERCC3, ERCC2, GTF2H5) of the basal transcription factor TFHII, which is involved in transcription and nucleotide excision repair. We report on a case of a male neonate with a novel GTF2H5 gene mutation, detected by whole exome sequencing. The GTF2H5 gene's role is to provide stability to the entire TFHII complex. The reported patient was born at 33 weeks' gestation from a pregnancy complicated by intrauterine growth restriction and premature rupture of membranes. His main clinical problems included severe congenital ichthyosis and proneness to infections with episodes of multiorgan failure. The infant's history displays the most severe clinical manifestations among patients with GTF2H5 gene mutations that have so far been reported.

Familial hypercholesterolemia (FH) is a genetic disease that causes accelerated atherosclerosis and a high risk of occurrence of cardiovascular events. Atherosclerosis in the course of FH develops insidiously and reaches an advanced stage before the onset of clinical symptoms. Homozygous form of FH occurs in the Caucasian population with a frequency of one per million, while the heterozygous form of FH in European countries applies on average in 1 person per 500. FH diagnosis is an indication to take the whole family under medical care, education, and to introduce dietary and pharmacological treatment. The aim of treatment in children with FH is to achieve more than 50% reduction in LDL level or to achieve LDL-cholesterol concentrations below 130 mg/dl and below 100 mg/dl in diabetic children. The effectiveness of low fat diet in the treatment of FH is limited. The medicaments of first choice in the treatment of FH are statins. After initiation of therapy in children, cholesterol levels and the side effects of therapy and its impact on children's development, nutritional status, degree of sexual maturity should be routinely evaluated. Familial hypercholesterolemia is a relatively common metabolic disorder, but still quite rarely recognized and not properly treated. Early diagnosis and appropriate treatment of FH in children and adolescents can significantly reduce the risk of cardiovascular disease and sudden death in adults. The purpose of these recommendations is to describe the current epidemiological situation in Poland, to establish the guidelines for identifying FH in children and adolescents and to enable the introduction of effective treatment. This document is a supplement to the position of Lipid Expert Forum on FH in adults.

1Katedra i Klinika Pediatrii, Diabetologii i Endokrynologii, Gdanski Uniwersytet Medyczny, Gdansk 2Klinika Pediatrii, Endokrynologii, Diabetologii, Chorob Metabolicznych i Kardiologii Wieku Rozwojowego, Pomorski Uniwersytet Medyczny, Szczecin 3Klinika Pediatrii, Endokrynologii i Diabetologii Dzieciecej, Śląski Uniwersytet Medyczny, Katowice 4Klinika Patologii Noworodka, Instytut Pediatrii, Centrum Zdrowia Dziecka, Warszawa 5Instytut Żywności i Żywienia, Warszawa 6I Katedra i Klinika Kardiologii, Warszawski Uniwersytet Medyczny, Warszawa 7Wydzial Medyczny, Uniwersytet Rzeszowski, Rzeszow 8Klinika Pediatrii, Hematologii, Onkologii i Diabetologii, Łodzki Uniwersytet Medyczny, Łodź 9I Katedra i Klinika Kardiologii, Gdanski Uniwersytet Medyczny, Gdansk 10Katedra i Klinika Transplantacji Szpiku, Onkologii i Hematologii Dzieciecej, Wroclawski Uniwersytet Medyczny, Wroclaw 11Klinika Gastroenterologii, Hepatologii i Żywienia Dzieci, Centrum Zdrowia Dziecka, Warszawa 12Zaklad Genetyki, Instytut Psychiatrii i Neurologii, Warszawa 13Zaklad Prewencji i Dydaktyki, Katedra Nadciśnienia Tetniczego i Diabetologii, Gdanski Uniwersytet Medyczny, Gdansk 14Katedra i Zaklad Biologii i Genetyki, Gdanski Uniwersytet Medyczny, Gdansk 15Katedra Nefrologii i Nadciśnienia Tetniczego, Łodzki Uniwersytet Medyczny, Łodź

Tetraploidy is a condition in which there are four complete sets of chromosomes in a single cell. In humans, this would be 92 pairs of chromosomes per cell. A great majority of pregnancies with a tetraploid fetus end in miscarriage, or if the pregnancy goes to full term, the infant dies shortly after birth. Longer surveillance is rarely described. The only method for confirming tetraploidy is karyotyping, in many cases using classical G-banding methods. In this paper we would like to present another living individual with tetraploidy and to revise the syndrome in the light of its diagnostics in the era of molecular karyotyping, with array Comparative Genomic Hybridization (aCGH, arrayCGH).

Recent updates of the European, American and Polish nutritional recommendations require updates of the nutritional norm for children. We present the Polish Expert Group statement (2012) on the intake of selected nutrients (proteins, lipids, carbohydrates, vitamin D and E) essential for nutrition in children aged 1–3 years. For this purpose the Expert Group reviewed available scientific data consisting of the recent guidelines, nutritional norms and recommendations, systematic reviews and expert opinions as well as original publications, in relation to the specific requirements for the Polish population.

Summary Background: Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, characterized by punctate or dot-like calcium deposits in cartilage observed on neonatal radiograms. A number of inborn metabolic diseases are associated with CDP, including peroxisomal and cholesterol biosynthesis dysfunction and other inborn errors of metabolism such as: mucolipidosis type II, mucopolysacharidosis type III, GM1 gangliosidosis. CDP is also related to disruption of vitamin K-dependent metabolism, causing secondary effects on the embryo, as well as fetal alcohol syndrome (FAS), chromosomal abnormalities that include trisomies 18 and 21, Turner syndrome. Case Report: This article presents clinical data and diagnostic imaging findings of two newborn babies with chondrodysplasia punctata. Children presented with skeletal and cartilage anomalies, dysmorphic facial feature, muscles tone abnormalities, skin changes and breathing difficulties. One of the patients demonstrated critical stenosis of spinal canal with anterior subluxation of C1 vertebra relative to C2. The aim of this article is to present cases and briefly describe current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases coexisting with CDP. Conclusions: Radiological diagnostic imaging allows for visualization of punctate focal mineralization in bone epiphyses during neonatal age and infancy. Determining the etiology of chondrodysplasia punctata requires performing various basic as well as additional examinations, including genetic studies.

Barth syndrome (BTHS) is an X-linked mitochondrial defect characterised by dilated cardiomyopathy, neutropaenia and 3-methylglutaconic aciduria (3-MGCA). We report on two affected brothers with c.646G > A (p.G216R) TAZ gene mutations. The pathogenicity of the mutation, as indicated by the structure-based functional analyses, was further confirmed by abnormal monolysocardiolipin/cardiolipin ratio in dry blood spots of the patients as well as the occurrence of this mutation in another reported BTHS proband. In both brothers, 2D-echocardiography revealed some features of left ventricular noncompaction (LVNC) despite marked differences in the course of the disease; the eldest child presented with isolated cardiomyopathy from late infancy, whereas the youngest showed severe lactic acidosis without 3-MGCA during the neonatal period. An examination of the patients’ fibroblast cultures revealed that extremely low mitochondrial membrane potentials (mtΔΨ about 50 % of the control value) dominated other unspecific mitochondrial changes detected (respiratory chain dysfunction, abnormal ROS production and depressed antioxidant defense). 1) Our studies confirm generalised mitochondrial dysfunction in the skeletal muscle and the fibroblasts of BTHS patients, especially a severe impairment in the mtΔΨ and the inhibition of complex V activity. It can be hypothesised that impaired mtΔΨ and mitochondrial ATP synthase activity may contribute to episodes of cardiac arrhythmia that occurred unexpectedly in BTHS patients. 2) Severe lactic acidosis without 3-methylglutaconic aciduria in male neonates as well as an asymptomatic mild left ventricular noncompaction may characterise the ranges of natural history of Barth syndrome. Electronic supplementary material The online version of this article (doi:10.1007/s10545-013-9584-4) contains supplementary material, which is available to authorised users.

Cytomegalovirus (CMV) infections are common and their incidence increases with age. In immunocompetent people they are usually asymptomatic or manifest as a mild, self-limiting mononucleosis syndrome. CMV infection in patients with immune deficiency as well as congenital infections may cause a considerable problem. A group of experts designated by the Polish Society of Epidemiology and Infectious Diseases has prepared recommendations on the diagnosis and treatment of CMV infections, with particular emphasis on the management of patients with immunodeficiencies and congenital infections.

Recent updates of the European, American and Polish nutritional recommendations require updates of the nutritional norm for children. We present the Polish Expert Group statement (2012) on the intake of selected nutrients (proteins, lipids, carbohydrates, vitamin D and E) essential for nutrition in children aged 1–3 years. For this purpose the Expert Group reviewed available scientific data consisting of the recent guidelines, nutritional norms and recommendations, systematic reviews and expert opinions as well as original publications, in relation to the specific requirements for the Polish population.

Streszczenie Stosowanie antybiotykow związane jest z mozliwością wystąpienia biegunki. Jej przebieg moze byc rozny: od najcześciej wystepującej, lagodnej i samoograniczającej sie biegunki, poprzez zapalenie jelit i/lub okreznicy, do najciezszej postaci, jaką jest rzekomobloniaste zapalenie jelita grubego. Biegunka związana z antybiotykoterapią najcześciej wystepuje po amoksycylinie, amoksycylinie z kwasem klawulanowym oraz cefuroksymie. W leczeniu biegunki związanej z antybiotykoterapią zasadniczym elementem jest odstawienie antybiotyku, a w przypadku rzekomobloniastego zapalenia jelit zastosowanie metronidazolu lub wankomycyny. W profilaktyce biegunki związanej z antybiotykoterapią zastosowanie mogą miec probiotyki o udokumentowanym dzialaniu.

Background Metabolic bone disease of prematurity still occurs in preterm infants, although a significant improvement in neonatal care has been observed in recent decades. Dual-energy X-ray absorptiometry (DXA) is the precise technique for assessing bone mineral content (BMC) in preterm infants, but is not widely available. Aim To investigate the clinical and biochemical parameters, including bone metabolism markers as potential predictors of BMC, in preterm infants up to 3 months corrected age (CA). Materials and methods Ca-P homeostasis, iPTH, 25-hydroxyvitamin D, osteocalcin, N-terminal propeptide, cross-linked C-telopeptide and amino-terminal pro C-type natriuretic peptide and the DXA scans were prospectively performed in 184 preterm infants (≤ 34 weeks' gestation) between term age and 3 mo CA. Lower bone mass was defined as BMC below or equal to respective median value for the whole study group, rounded to the nearest whole number. Results The appropriate quality DXA scans were available for 160 infants (87%) examined at term and for 130 (71%) tested at 3 mo CA. Higher iPTH level was the only independent predictor of lower BMC at term, whereas lower BMC at 3 mo CA was associated both with lower urinary phosphate excretion and higher serum osteocalcin level. ROC analysis showed that iPTH >43.6 pg/mL provided 40% sensitivity and 88% specificity in identification of preterm infants with lower BMC at term. In turn, urinary phosphate excretion (TRP>97% or UP/Cr ≤0.74 mg/mg) and serum osteocalcin >172 ng/mL provided 40% sensitivity and 93% specificity in identification of infants with decreased BMC at 3 mo CA. Conclusion Serum iPTH might to be a simple predictor of reduced BMC in preterm infants at term age, but urinary phosphate excretion and serum osteocalcin might predict reduced BMC at 3 mo CA. These results represent a promising diagnostic tool based on simple, widely available biochemical measurements for bone mass assessment in preterm infants.

Czlonkowie grupy roboczej:dr n. med. Piotr Albrechtprof. dr hab. Ewa Bernatowskaprof. dr hab. Anna Dobrzanskadr n. med. Pawel Grzesiowskiprof. dr hab. Waleria Hryniewiczdr n. med. Ryszard Koniordr n. med. Marian Patrzalekprof. dr hab. Andrzej Radzikowskidr n. med. Leszek Szenbornprof. dr hab. Jacek Wysocki

Background: High prevalence of vitamin D deficiency in pregnancy is recorded. Aim: To establish determinants of postpartum 25-hydroxyvitamin D (25(OH)D) levels on mothers and offspring. Methods: 25(OH)D level was measured in cord blood and maternal blood collected ≤3 weeks postpartum. Maternal socioeconomic status, vitamin D intake, sun exposure during pregnancy and maternal and neonatal fat mass (FM; dual X-ray absorptiometry) were assessed within 3 weeks postpartum. Results: A total of 174 mother-offspring pairs were enrolled. Maternal 25(OH)D 0.05). Multiple regression analysis revealed the delivery season, prenatal vitamin D intake ≥800 IU/day and duration of supplementation to be the determinants of maternal 25(OH)D level (R2 = 0.26, p < 0.001). Maternal 25(OH)D level, season of birth and duration of maternal supplementation explained 83% of the variance in cord blood 25(OH)D level (R2 = 0.83, p < 0.001). Conclusions: The key determinants of higher maternal vitamin D status were the summer-autumn season of delivery and prenatal use of ≥800 IU/day of vitamin D. The cord blood 25(OH)D level was mainly determined by maternal 25(OH)D level and season of birth.

Familial hypercholesterolemia (FH) affects on average 1 in 500 individuals in European countries, and it is estimated that FH in Poland may affect more than 80,000 people. However, in Poland, only about 20% of the population is estimated to have been diagnosed with FH, of which only a small number receive adequate treatment. FH results in more rapid development of atherosclerosis and is associated with a high risk of cardiovascular events. Atherosclerosis develops beginning in childhood in patients with FH and reaches advanced stages before clinical manifestations develop. Inadequate diagnostics and treatment of FH in Polish children suggests a need for raising the level of awareness and understanding of the condition in both society and among health professionals. These recommendations present the current epidemiological status, guidelines for diagnosing FH in Polish children and adolescents, and effective treatment options.

Updating of the nutritional guidelines for the Polish population requires updates of the nutritional norms for children. We present the Polish Expert Group statement (2012) on intake of selected nutrients (protein, lipids, carbohydrates, vitamin D and E) essential in nutrition of children aged 1-3 years. For this purpose the Expert Group reviewed available scientific data: the recent guidelines, nutritional norms and recommendations, systematic reviews and expert opinions as well as original publications, in relation to the specific requirements of the Polish population.

Wstep: Wyniki badan z ostatnich lat dokumentują wiele korzyści wynikających z dzialania witaminy D na organizm czlowieka na wszystkichetapach jego zycia. Wiekszośc badan epidemiologicznych sugeruje, ze niedobor witaminy D jest powszechny wśrod mieszkancow EuropyŚrodkowej. Naturalną konsekwencją tej sytuacji jest koniecznośc ciąglego uświadamiania spoleczenstwu oraz środowisku medycznemu,jaką role odgrywa witamina D w rozwoju i funkcjonowaniu organizmu ludzkiego. Metody: Na podstawie przeglądu danych literaturowych Polski Zespol Wielodyscyplinarny opracowal tezy dotyczące zasad suplementacjiwitaminą D, ktore przeslano do czlonkow Komitetu Naukowego konferencji „Witamina D — minimum, maksimum, optimum”,19–20 Październik, 2012, Warszawa. W trakcie powyzszej konferencji z udzialem 550 delegatow oraz Ekspertow roznych dziedzin medycynyomowiono i przedyskutowano propozycje wytycznych suplementacji witaminą D populacji Europy Środkowej. Wyniki: W efekcie przeprowadzonych dyskusji Zespol Ekspertow opracowal wytyczne suplementacji witaminą D dla wszystkich grupwiekowych populacji Europy Środkowej. Określono rowniez kryteria diagnostyczne charakteryzujące stan zaopatrzenia organizmu w witamine D: deficyt witaminy D ustalono jako stezenie 25(OH)D < 20 ng/mL (< 50 nmol/L)], suboptymalne zaopatrzenie jako stezenie25(OH)D wynoszące 20–30 ng/mL (50–75 nmol/L), a stezenie 30–50 ng/mL (75–125 nmol/L) uznano za docelowe dla zapewnienia efektuplejotropowego witaminy D. Wnioski: Poprawa obecnego stanu zaopatrzenia witaminy D w grupach dzieci, mlodziezy, osob aktywnych zawodowo i seniorowpowinna zostac wlączona do priorytetow polityki zdrowotnej spoleczenstw Europy Środkowej.

We present two different cases of congenital intramedullary tumours, one of a patient in whom treatment was started without pathological confirmation of a malignant tumour and the other of a primitive neuroectodermal tumour. Magnetic resonance imaging is the most useful tool in the diagnosis of malignant intramedullary tumours and differentiation from other types of spinal cord lesions.

25-Hydroxyvitamin D (25OHD) may influence bone turnover. We compared the dynamics of bone markers in 30 infants on vitamin D supplementation (≅550 IU/day) with different degrees of hypovitaminosis D (25OHD11 ng/ml - deficiency vs. ≥ 1120 ng/ml - insufficiency). Baseline and follow-up (after 10 weeks), 25OHD, 1,25-dihydroxyvitamin D (1,25(OH)(2)D), alkaline phosphatase (ALP), PTH, osteocalcin (OC), N-terminal propeptide of type I procollagen (PINP), C-terminal telopeptide of type I collagen (CTX), and amino-terminal propeptide of C-type natriuretic peptide (NT-proCNP) were measured. None of the newborns had craniotabes, hypocalcemia or hyperparathyroidism. The median (Q1;Q3) 25OHD increased from a baseline of 8.45 (7;11.9) ng/ml to 54.6 (34.7;67.3) ng/ml (p0.001). The baseline 25OHD negatively correlated with total increment of 25OHD (r=-0.54; p=0.002). There were changes in ALP (241 vs. 331 IU; p0.001), 1,25(OH)(2)D (48 vs. 95.5 pg/ml, p0.001), OC (88.8 vs. 159.1 ng/ml, p0.001), PINP (3886 vs. 2409 ng/ml; p0.001), CTX (1.6 vs. 1.1 ng/ml; p0.001), and NT-proCNP (75.1 vs. 35.1 pmol/l; p0.001). Vitamin D deficient infants at baseline, compared to the insufficient group, revealed significantly higher percentage changes for 25OHD (745% vs. 167%, p0.0001), OC (113% vs. 40%, p0.05) and 1,25(OH)(2)D (95% vs. 58%, p0.05).Vitamin D supplements had little to no impact on markers of bone turnover in term infants in the first few months of life, with the exception of osteocalcin. Ten weeks of cholecalciferol supplementation at a dose of 550 IU/day led to a marked increase of 25OHD concentration. The magnitude of 25OHD increment was inversely related to vitamin D status at baseline. Irrespective of the severity of vitamin D deficiency, a secondary hyperparathyroidism with elevated iPTH, ALP, phosphaturia or hypophosphatemia was not observed in the studied neonates.

Adequate vitamin D intake and its status are important not only for bone health and Ca-P metabolism, but for optimal function of many organs and tissues throughout the body. Due to documented changes in dietary habits and physical activity level, both observed in growing children and adults, the prevalence of vitamin D insufficiency is continuously increasing. Basing on current literature review and opinions of National Consultants and experts in the field, polish recommendations for prophylactic vitamin D supplementation in infants, toddlers, children and adolescents as well as in adults, including pregnant and lactating women have been established.

In this paper we outline the aims and methods of the Polish National Programme for Standardisation of Clinical Practice in Neonatology and Paediatric Intensive Care, with special reference to infants with low and extremely low birth weight. The aim of this Programme is to adjust the diagnostic and therapeutic procedures to the latest guide lines and recommendations. The first stage consisted of a national level survey in order to identify the diversity of procedures implemented in Medical University Clinical Departments, Neonatology Units and Paediatric Intensive Care Units. The survey also served to confront the legitimacy of the used procedures with the current clinical knowledge and research. It is planned to repeat the survey 24 months after the implementation of the latest recommendations with the aim to assess the impact of the Programme on clinical practice. Partial stages of the Programme were started since 2006. The survey is coordinated by an independent statistics unit. The recommendations are developed on published standards.

Proposition of recommendations for prevention of osteopenia in premature infants is presented in this article. In parenteral nutrition in premature infants calcium and phosphorus should be supplemented early in a dose of 80-100 mg/kg/24 h (2-2.5 mmol/kg/24 h) and 43-63 mg/kg/24 h (1.4-2 mmol/kg/24 h) respectively. In enteral nutrition calcium and phosphorus should be supplemented in a dose 90-150 mg/kg/24 h (2.25-3.7 mmol/kg/24 h), and: 45-80 mg/kg/24 h (1.5-2.6 mmol/kg) respectively. Breast milk fortifier is recommended up to the corrected age of 40 Hbd and in case of growth retarded infants - up to 52 Hbd. Vitamin D should be supplemented in a dose of 400-800 IU, particularly in breast fed infants. Vitamin content in formula or fortifier must be taken into account. Active metabolites of vitamin D are not recommended. Physical activities, together with appropriate mineral, protein and energy intake may decrease the risk of osteopenia. Laboratory assessment of calcium and phosphorus homeostasis is recommended every 2 weeks, from 6(th) week of life.

The Paediatric Expert Group on the Immunization Programme was established in January 2007. It is an independent advisory body to the Minister of Health. The Expert Group consists of paediatricians from various sub-specialities. Most of them are members of the Polish Society of Vaccinology (Table I). The Group started their activities informally in 2005. The first project concerned changes in immunization against tuberculosis and prophylaxis of measles, mumps and rubella. The project was fully implemented in 2006. The changes initiated three years ago, gradually implemented in the Immunization Programme are a result of wide cooperation with the Ministry of Health, Department of Health Policy Chief Sanitory Inspector, as well as the Institute of Tuberculosis and Pulmonary Diseases. The aim of the Paediatric Expert Group on the Immunization Programme is to present a unified policy in matters related to vaccination, leading to rapid changes in the prophylaxis of infective diseases which are still a threat to the life and health of children.

We present the young infant with the extremely rare brain abnormality–brainstem disconnection. Additionally, several extracerebral abnormalities were diagnosed: bilateral anotia, micrognatia, hypertelorism, scoliosis, ribs and vertebral anomalies. MR brain examination precisely demonstrated absence of the pons, with disruption between midbrain and hypoplastic medulla oblongata. The thin strands connecting the medulla with the midbrain and medulla with both cerebellar hemispheres were revealed. The large hamartoma of the tuber cinereum was found. In this study we review case reports published previously.

Some 30 years ago, Gunter Dorner proposed that exposure to hormones, metabolites and neurotransmitters during limited, sensitive periods of early development exert programming effects on disease risk in human adults. Early programming of long term health has since received broad scientific support and attention. For example, evidence increases for programming effects of infant feeding choices on later obesity risk. Meta-analyses of observational studies indicate that breast feeding reduces the odds ratio for obesity at school age by about 20%, relative to formula feeding, even after adjustment for biological and sociodemographic confounding variables. We hypothesized that breast feeding protects against later obesity by reducing the likelihood of high weight gain in infancy, and that this protection is caused at least partly by the lower protein supply with breast milk relative to standard infant formulae (the "Early Protein Hypothesis"). These hypotheses are tested in the European Childhood Obesity Project, a randomized double blind intervention trial in more than 1,000 infants in five European countries (Belgium, Germany, Italy, Poland, Spain). Formula fed infants were randomized to receive during the first year of life infant formulae and follow-on-formulae with higher or lower protein contents. Follow-up at 2 years of age shows that lower protein supply with formula normalizes early growth relative to a breast fed reference group and to the WHO growth reference. These results demonstrate that modification of infant feeding practice has an important potential for long-term health promotion and should prompt a review of the recommendations and policies for infant formula composition.