The Limitations of Cytomegalovirus DNA Detection in Cerebrospinal Fluid of Newborn Infants With Congenital CMV Infection: A Tertiary Care Neonatal Center Experience.

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.

Assessment of continuous pain in newborns admitted to NICUs in 18 European countries.

AIM: Continuous pain occurs routinely, even after invasive procedures, or inflammation and surgery, but clinical practices associated with assessments of continuous pain remain unknown. METHODS: A prospective cohort study in 243 neonatal intensive care units (NICUs) from 18 European countries recorded the frequency of pain assessments, use of mechanical ventilation, sedation, analgesia or neuromuscular blockade for each neonate for up to 28 days after NICU admission. RESULTS: Only 2113 of 6648 (31.8%) of neonates received assessments of continuous pain, occurring variably among tracheal ventilation (TrV, 46.0%), noninvasive ventilation (NiV, 35.0%) and no ventilation (NoV, 20.1%) groups (p < 0.001). Daily assessments for continuous pain occurred in only 10.4% of all neonates (TrV: 14.0%, NiV: 10.7%, NoV: 7.6%; p < 0.001). More frequent assessments of continuous pain occurred in NICUs with pain guidelines, nursing champions and surgical admissions (all p < 0.01), and for newborns <32 weeks gestational age, those requiring ventilation, or opioids, sedatives-hypnotics, general anaesthetics (O-SH-GA) (all p < 0.001), or surgery (p = 0.028). Use of O-SH-GA drugs increased the odds for pain assessment in the TrV (OR:1.60, p < 0.001) and NiV groups (OR:1.40, p < 0.001). CONCLUSION: Assessments of continuous pain occurred in less than one-third of NICU admissions and daily in only 10% of neonates. NICU clinical practices should consider including routine assessments of continuous pain in newborns.

Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.

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.

Practical guidelines for the supplementation of vitamin D and the treatment of deficits in Central Europe - recommended vitamin D intakes in the general population and groups at risk of vitamin D deficiency.

INTRODUCTION: Adequate Vitamin D intake and its concentration in serum are important for bone health and calcium-phosphate metabolism as well as for optimal function of many organs and tissues. Documented trends in lifestyle, nutritional habits and physical activity appear to be associated with moderate or severe Vitamin D deficits resulting in health problems. Most epidemiological studies suggest that Vitamin D deficiency is prevalent among Central European populations. Concern about this problem led to the organising of a conference focused on overcoming Vitamin D deficiency. METHODS: After reviewing the epidemiological evidence and relevant literature, a Polish multidisciplinary group formulated theses on recommendations for Vitamin D screening and supplementation in the general population. These theses were subsequently sent to Scientific Committee members of the 'Vitamin D - minimum, maximum, optimum' conference for evaluation based on a ten-point scale.With 550 international attendees, the meeting 'Vitamin D - minimum, maximum, optimum' was held on October 19-20, 2012 in Warsaw(Poland). Most recent scientific evidence of both skeletal and non-skeletal effects of Vitamin D as well as the results of panellists' voting were reviewed and discussed during eight plenary sessions and two workshops. RESULTS: Based on many polemical discussions, including post-conference networking, the key opinion leaders established ranges of serum 25-hydroxyVitamin D concentration indicating Vitamin D deficiency [< 20 ng/mL (< 50 nmol/L)], suboptimal status [20-30 ng/mL(50-75 nmol/L)], and target concentration for optimal Vitamin D effects [30-50 ng/mL (75-125 nmol/L)]. General practical guidelines regarding supplementation and updated recommendations for prophylactic Vitamin D intakes in Central European neonates, infants, children and adolescents as well as in adults (including recommendations for pregnant and breastfeeding women and the elderly) were developed. CONCLUSIONS: Improving the Vitamin D status of children, adolescents, adults and the elderly must be included in the priorities of physicians,healthcare professionals and healthcare regulating bodies. The present paper offers elaborated consensus on supplementation guidance and population strategies for Vitamin D in Central Europe.

Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.

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.

Complications of umbilical vein catherisation. Case Report.

BACKGROUND: Umbilical vein catheterization is a relatively easy procedure performed routinely on the neonate intensive care units. It provides a fast central vein access, but some complications have been described in the literature. CASE REPORTS: We presented a case report of a premature infant (34 hbd) with extravasation of the parenteral nutrition and drugs to the liver after umbilical vein catheterization. Fever and increasing biochemical markers of infection were observed. USG revealed a heterogenic, well-limited space of 4 cm in diameter, located in the right lobe of the liver. CT excluded liver abscess. Considering neoplastic process or incorrect location of the catheter of the central vein, we performed liver biopsy. RESULTS: Cytological and biochemical analysis of the aspirated fluid revealed extravasation of parenteral nutrition to the liver. Our case confirms the necessity of controlling a proper location of the central catheter right after its insertion and during hospitalization.

Lipomas of the central nervous system in the newborns - a report of eight cases.

BACKGROUND: Central nervous system lipomas are rare tumours. In most of the cases they are located in corpus callosum of the brain. The ultrasonographic image of lipomas tends to be quite characteristic. Final diagnosis is however done on a basis of brain resonance. The purpose of this work is to present proceeding in case of central nervous system lipomas with particular attention to diagnostic imaging. This work is based on own research. CASE REPORT: There are eight patients with central nervous system lipomas described in this work. The ultrasonographic imaging performed upon patients' birth revealed features of agenesis of corpus callosum with presence of hyperechoic structure in the area of median line within corpus callosum. This image correlated with Nuclear Magnetic Resonance examination results. Our research confirms that patients with central nervous system lipomas represent rare diagnostic and therapeutic cases. Due to characteristic results of ultrasonographic imaging of the brain, recognition of agenesis of corpus callosum would not cause difficulties. However the presence of hyperechoic structure without vascular flow which may suggest lipomas of corpus callosum would require final verification of the diagnosis and wider assessment of brain with NMR examination. We did not recognize any relation between corpus callosum pathology and neuroinfection of cytomegalovirus etiology. In all of the eight research cases there were malformations diagnostics conducted. There were genetic irregularities in case of two of the neonates only. Until today, all of the patients remain under neurological care. Their psychomotor development is regularly controlled. CONCLUSIONS: Taking into consideration that numerous malformations occur altogether with brain lipomas, it is recommended to conduct appropriate diagnostics, to inform parents on an essence of diagnosis and on necessity of observing child's psychomotor development. Obviously, it is crucial to secure a patient with paediatric and neurological care.

Congenital intramedullary spinal cord tumours: a report of two cases.

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.

[Prophylaxis of vitamin D deficiency--Polish recommendation 2009]. / Stanowisko Zespolu Ekspertów. Polskie zalecenia dotyczace profilaktyki niedoborów witaminy D - 2009.

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.

Antenatal diagnosis of the congenital craniopharyngioma.

BACKGROUND: Craniopharyngioma is a rare fetal and neonatal tumor. CASE REPORT: We report a case of a congenital craniopharyngioma diagnosed by prenatal magnetic resonance. This diagnosis was confirmed by postnatal MR imaging, neurosurgical treatment and histopathological examination. CONCLUSIONS: Outcome of neonatal craniopharyngioma is very poor, even if radical surgery is performed. The main problems are pituitary insufficiency, diabetes insipidus, and visual disturbance.

MRI findings in the young infant with brainstem disconnection and extracerebral features. Report of one case and review of the literature.

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.

[Aims and methodology of the Polish National programme for Standardisation of Clinical Practices in Neonatology and Paediatric Intensive Care. Edition 2007/2008]. / Cele i metodologia Ogólnopolskiego Programu Definiujacego i Standaryzujacego Praktyki Kliniczne w Neonatologii oraz Intensywnej Terapii Dzieciecej z uwzglednieniem dzieci urodzonych z mala i bardzo mala masa urodzeniowa ciala. Edycja 2007/2008.

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.

[The results of treatment of retinopathy of prematurity by laser photocoagulation]. / Efekty leczenia retinopatii wczesniaków za pomoca laserowej fotokoagulacji.

PURPOSE: The subject of paper was to assess: 1. The child's age, when the threshold retinopathy is diagnosed. 2. To estimate the correlation between gestational, corrected and chronological age of the child at the time of the ophthalmologic surgery. 3. To estimate the effect of the treatment on the ROP's regress and to find the risk factors of the progress of retinopathy despite of the treatment. MATERIAL AND METHODS: We studied 103 children treated because of the retinopathy of prematurity. The mean chronological age at the time of the surgery was 74,8 day +/- 18,3 and corrected age was 37,7 Hbd +/- 3,2. To assess the risk factors of the progress of the ROP despite the treatment we formed the group I- 57 children with the retinopathy's regress after the surgery and group II- 23 children with unfavorable outcome of the disease (i. e. partial or complete retinal detachment at least unilaterally). RESULTS: Fetal age correlated with corrected age at the time of the surgery (r=0,57, p<0,0001) and there was a negative correlation between gestational and chronological age at the time of the surgery (r = -0,23, p=0,02). Statistical significance was achieved by the stage of ROP before the surgery and the effects of the treatment (chi2=43,8, p<0,0001). CONCLUSIONS: The risk of the threshold retinopathy before 36 week of corrected age increases with decreased gestational age. There is positive correlation between corrected age and gestational age. The laser photocoagulation performed in appropriate time stops progression of ROP. The photocoagulation of the retinopathy is a very important risk factor of the severe vision impairment when it is made too late (more than 3rd stage of ROP). The progress of ROP despite of laser therapy is more likely in the most premature babies with small weight gain.