Mitochondrial disorders (MD) are a group of genetic defects characterized by heterogeneous molecular background, broad spectrum of symptoms and low detection rate.The aim of this work was to study how selective screening for inborn error of metabolism by urine organic acidGC–MS analysis may help to determine the probability of MD. We retrospectively evaluated OA metabolites from patients divided into two groups:
1. in 143 cases of molecularly confirmed MD (the mitochondrialgroup);
2. in 444 samples from selective screening, whereincreased excretion of lactic acid was detected (thescreening group). In the mitochondrial group OA profile was normal in 24% of the patients. In the other 76% profile was complex, with the presence of 2-ketoglutaric acid and other Krebs cycle’s metabolites (35,5%), fatty acid oxidation (27,3%), liver dysfunction (10,0%), intestinal motility (9,0%). The presence of specific metabolites (i.a. methyl glutaconic acid and ethylmalonic acid) enabled to identify related gene mutations in 10 patients. Of the screening group, 21% of patients were assessed as having high probability of MD and it should be an indication for muscle biopsy and/or DNA analysis. Atleast 29 newborn infants of the screening group died ,including 22 for which cause of death is unknown and no specimens was left for further investigation.
Conclusions:
1. Abnormalities of the urinary organic acid profileare not specific for MD, but can help to qualify patients who suffer from disease of unclear etiologyfor mitochondrial diagnosis.
2. In cases of abnormalities of the urinary organicacid profile, the authors recommend to collect DNA specimens and to get permission for analysis of pathogenic mutations, especially when it concerns newborn infants with uncertain prognosis. One can run a DNA test on either blood collected in EDTAtube, or on biopsy/autopsy tissue specimen.

Nutrition in infancy is important factor influencing later adequate development and heath. There are lots of inadequate practices in infant’s feeding in relation to guidelines on infant feeding in Poland.

Objectives.
The aim of the study was nutritional and dietary habits assessment among healthy infants in Poland.

Material and methods.
A total of 317 infants (158 at6 months of age and 159 at 12 months of age) werestudied. Study participants were randomly selected from whole area of Poland. Questionnaires and 24-hours food records were used to collect data on infant’sfeeding practices.

Results.
Number of meals per day was too high (mean 8times/day), complementary feeding was introduced too late, some infants were fed with food inadequate forthem and vitamin D supplementation was inadequate regarding Polish guidelines.

Conclusion.
There is urgent need for developing better education system for parents and more attention of pediatricians and health care providers to promotedietary guidelines for infants in Poland.

Introduction.
Folic acid plays a significant role in prevention of children’s congenital anomalies. The properfolate in take substantially reduces the incidence ofneural tube defects.

Objectives.
Knowledge assessment of women after childbirth concerning folic acid supplementation necessity during periconceptional age and in the pregnancy.

Material and methods.
The study of 330 women, among which questionnaire survey were conducted about necessity of folic acid supplementation during periconceptional age and pregnancy.

Results.
Out of 330 surveyed women, 60% of them had known about positive folic acid influence on fetal development. However, only 35,5% of them took folic acid of childbearing age. Women under 25 years old significantly less often took folic acid before pregnancy. The most common information sources of folate were physicians, media, friends and school.

Conclusions.
Although the folic acid supplementation is highly recommended by the public campaigns its administration by pregnant women is still insufficient. This is the reason why there should be a special health supporting program introduced to promote the folic acid supplementation in future mothers’ diet.

Objectives.
Perinatal asphyxia still remains a risk factor affecting neonatal morbidity and mortality and is associated with the appearance of neurological complications. The aim of this study was the estimationof cardiac troponin I (cTnI) evaluation in asphyxiatedneonates, its correlation with the degree and possible complications of asphyxia (intraventricular haemorrhage-IVH, death). We tried to establish a reference range for cTnI in healthy newborns.

Materials and methods.
120 neonates enrolled into the study: 60 infants with perinatal asphyxia were enrolled in the study group (asphyxiated group), 60 healthy newborns were included in the control group.

Results.
Neonates with perinatal asphyxia had significantly higher serum cTnI concentrations according to the control group (p < 0.001). Newborns with low Apgar score in the 5th min had significantly higher cTnI concentrations compared to those who had low Apgar score in the 1st min but normal (> 7) in the 5th(p < 0.05). We showed the positive correlation of cTnI concentration with the degree of IVH and the risk of death in the asphyxiated group. The range of cTnI in healthy newborns reaches from 0.00 ng/ml to 0.39ng/ml and correlates with the mode of delivery and gestational age but does not depend on birth weight and gender.

Conclusions.
In healthy newborns cTnI concentrations are higher than in the population of healthy adults. In neonates with perinatal asphyxia cTnI concentrations are significantly higher than in the group of healthy infants. cTnI may be a useful diagnostic tool in the newborns with perinatal asphyxia.

Time from delivery to discharge child from neonatal unit should be limited to the required minimum. The following criteria are used when it comes to safe discharging of healthy term neonates, such as stable or increasing weight gain, low risk of hiperbilirubinemia, a precise feeding plan and two successful breast feeds. In Poland healthy term neonates are usually discharged at 3 days of age, after having received their vaccinations (HepB and BCG), and having had a hearing test preformed followed by a metabolic screen (hypothyroidism, cystisfibrosis, phenyloketonuria). The discharge plan should consider nursing tips for cord care, guidelines for vitamin D3 and vitamin K administration for breastfeding fants and other supplements recommended by the polish neonatal and paediatric committees. Discharging a preterm neonate is always a difficult and complex decision. It is safe to discharge an infant with proper weight gain, and low risk of ALTE (apparent lifethreatening episode) or requiring repeated hospital admissions. It is well known, that this group of infants are at risk of neurodevelopment problems, and they require systematic out patient care. The following criteria should be used for discharging preterm neonates; temperature stability, no apnea’s for at least 7 days with no caffeine in take and good weight gain.

Milroy disease is a hereditary disorder of lymphatic system characterized by congenital lower limb lymphedema. Symptoms of disruption of lymphatic flow are present at birth, sometimes they can be detected inprenatal testing. On rare occasions they develop later inlife. Milroy disease is diagnosed based on clinical findings, familial history and molecular testing. This paper presents a case of familial lower limb lympedema with special reference to neonatal period. Based on latest publications it describes molecular background of the disease, its clinical picture and differential diagnosis. Because of underlying genetic condition of the diseasethis paper describes availability of genetic counseling, diagnostic possibilities and publications about genetherapy.

Early diagnosis and effective treatment of neonatalseps is is one of the focal points of neonatology. The authors will present the procedural aspects based on the review of the literature on the subject of different methods of sepsis diagnosis. The resulting procedure (see: Part II. p. 504) has been implemented in 3rd level perinatal care unit as a standard for early onset sepsis recognition.

This report is a proposition of a guide and algorithm for the screening and subsequent management of neonatalhy poglycemia.

Candida species are normal commensal flora after the neonatal period and rarely cause serious consequences for the immunocompetent hosts. Immaturity of host defenses and colonization with Candida before establishment of normal intestinal flora can contribute to the pathogenicity of Candida for a neonate. Fungal infections for the well term infants are generally limited to mucocutaneous disease involving Candida albicans. Invasive candidiasis – fungemia and disseminated candidiasisis a frequent infection for infants with very low birth weight (VLBW). It is an increasing problem in neonatal intensive care units worldwide and is frequent cause of morbidity, mortality and prolongation of hospital stay. Early recognition and treatment of invasive fungal infection is very important, especially for infants with VLBW.

The article presents the current state of knowledge about HBV, HCV and HIV in pregnant women in terms of risk to the fetus /newborn. Particular attention was paid to methods of interrupting vertical transmission of infection during delivery and postnatal period. It also discusses the risks associated with breast feeding bywomen carriers of HBV, HCV and HIV.

Pancreatic exocrine insufficiency is a consequence of diseases leading to a loss of pancreatic parenchyma, obstruction of the pancreatic duct, decreased pancreatic stimulation, or inactivation of pancreatic enzymes. Therapy for pancreatic exocrine insufficiency is based on the oral administration of pancreatic enzymes.

In the article, factors affecting colonization of the gastrointestinal tract in infants are discussed. The way of labor, environment, feeding, antibiotics and medicines, as well as probiotics and prebiotics are pointed as the most important ones. Correct proceeding of this processis essential for the proper acting of the human body. The factors that may delay the colonization or disturb the balance of intestinal microorganisms may lead to the dominance of those species, which originally cause the disturbances or as a result of enzymatic activity are involved in production of toxic or carcinogenic compounds, which may lead to incubation of many diseases.

In the paper current recommendations on vaccination against pertussis have been described. The universal infant pertussis immunization program has markedly reduced number of cases in infants and young children. Pertussis is not anymore a disease of young children, but in many countries an increase in morbidity is seen among youth and adults. Susceptibility to pertussis inolder population poses a transmission risk to vulnerablenon-immune infants. New vaccines against pertussis designed for youth and adults may lead to decrease in pertussis morbidity among these groups of age and may lead to anin creased herd immunity.

Influenza infection leads to illnesses, multiorgan complications and death in various age groups all over the world. Regardless of health outcome, the financial impactof influenza infection is considerable. The highest incidence occurs in children, but severe illnesses and death occur mainly in high risk groups, regardless of age, as well as in persons aged over 65 and in children under 2. There is a great deal of scientific evidence confirming that the cheapest and most effective way to prevent influenza illnesses and multiorgan complications is vaccination every epidemic season. For over 10years new generation anti-influenza drugs called neuraminidase inhibitors have existed. In addition, many methods of rapid diagnosis are available to confirm the presence of influenza infection. Neuraminidase inhibitorsare very helpful in treating patients who have not been vaccinated, as well as in preventing the disease.

Authors present chosen works presented during 24th International Congress of the Transplantation Society, Berlin, July 2012.