Goltz-Gorlin syndrome known as Focal Dermal Hypoplasia (FDH) is a rare and highly variable disorder affecting many body parts of meso-ectodermal origin. Mutations in X-linked POR CN gene have been identified in almost all patients with a classical Goltz-Gorlin phenotype. Major manifestations include atrophic orhypoplastic linear skin lesions with fat herniation, papillomas around orifices, microphthalmia and ocularcoloboma, hypodontia, hearing loss, and extremely variable limb malformations. Moreover, other malformations may be found such as underdeveloped mammae, urinary tract defects, facial cleft, cleft lipand palate, caudal tails and anal malpositioning. Insingle cases other congenital defects are included inphenotype of GGS such as: midline abdominal walldefects, sternum defects, anterior diaphragmatic defects, pericardial defects, and congenital heart defects. Intellectual functioning is usually normal ormildly delayed. We report molecularly confirmed Goltz-Gorlin syndrome in three cases. One patient presented with the pentalogy of Cantrell (absent lower sternum; anteriordiaphragmatic hernia; ectopia cordis; omphalocele), what can confirm that the pentalogy of Cantrell can be caused in some patients by a POR CN mutation.

Medulloblastoma is the most common malignant paediatric brain tumour. Although prognosis has improvedover many years, a significant proportion of patients is presently incurable. In the era of genomic profiling, risk stratification disappointingly remains so far clinical and histopathological in this disease and requires further improvement. Recently, the integrated use of technologies for whole genome analysis at the DNA and the gene expression levels confirmed unambiguously the existence of subtypes of tumours with up-regulated WNT or SonicHedgehog (SHH) signalling path ways and also from twoto four other transcriptional groups depending on the sample size and the number of genes used in investigation. Patients from the WNT group have a favourable outcome for the disease and this finding has immediate therapeutic consequences. By contrast, patients witha particularly poor prognosis were identified within the non-WNT/SHH groups. Moreover, for patients from SHH group treatment with Smoothened inhibitors that target the SHH signalling pathway is currently underconsideration. Since the biological heterogeneity of the disease is clearly of clinical relevance, specific sub-types of medulloblastma should be identifiedand further tested in the large cohort of uniformly treated patients. This will improve risk stratification and identify molecular targets for novel drugs.

In this review carbapenemases, enzymes from the extended-spectrum β-lactamase group were described. Carbapenemases-producing bacteria are responsible for serious infections difficult for treatmentand connected with high mortality. They are identified in Gram-negative nonfermenting rods such as Pseudomonas aeruginosa and in the rods of Enterobacteriacea family as Klebsiella pneumoniae. At the beginning carbapenemases were identified as chromosomal enzymes responsible for intrinsic resistanceto β-lactams. After that the genes responsible for synthesis of carbapenemases were found on plasmids which can spread from strain to strain and from species to species. The majority of carbapenemase-producing rods is simultaneously resistant to β-lactams, aminoglycosides and fluorochinolons, because genes responsible for resistance to these antibiotics may belocated on the same plasmid. The greatest threat in the 21st century comes from Gram-negative rods of Enterobacteriaceae family producing carbapenemases KPC, VIM-1 and NDM-1. The only therapeutic options for treatment of infections caused by multiresistant rods of Enterobacteriaceae producing carbapenemases remain colistin and tigecycline.

MLPA (Multiplex Ligation-dependent Probe Amplification) is one of the molecular biology methods constituting a peculiar combination of ligation reactionand multiplex PCR. It enables a relative quantitative assessment of the respective specific DNA sequences by hybridization of genomic DNA (test DNA) with amixture of probes. Low cost, short analysis time, low hardware requirements and the ability to test many different sequences in one reaction made MLPA has become the method having a great diagnostic potential and a broad application. It allows to the pre- and postnatal identification of microdeletions and microduplications both chromosomal regions and genes responsible for syndromes of these aberrations or monogenic diseases or cancer. In this review, the protocol of MLPA method and its use in cytogenetic practice were discussed.

The indictions for blood transfusion in prematurely born and neonates should be considered as a distinctentity from those of adults. Neonates and prematurely born infants are particularly vulnerable and these have been concerns over infective risk or disadvantage outcomes to this group. Many aspects of hematopoiesis are either incompletely developed in preterm infantsor still functioning to serve the fetus. This delayed development and/or slow adaptation to extrauterine lifediminis hes the capacity of the neonate to produce red blood cells, platelets and neurophils. The serious medical and/or surgical problems of preterm birth can befur ther complicated by phlebotomy blood losses, bleeding,hemolysis and consumptive coagulopathy. Somepreterm infants and neonates are given numerous red cell concentrates early in life owing to several interacting factors what causes question about the appropriate use of blood components. Although there are many pediatric guidelines on the use of blood, there is a lack of evidence underlying these. The paper presents recommendations for use of blood components for preterminfants and neonates.

Vitamins are the chemical compounds that play therole of biocatalysts in the human body. They are necessary in majority of processes and they are crucial inerythropoies is as well. Vitamins cannot be synthesized in sufficient quantities by an organism and must be supplied with the diet. So one of the most important consequence of diet deficiencies may be anemia, called deficiency anemia. We present vitamins which are the most important for proper erythrocytes production. We describe their role in the body, especially their place in the erythropoiesis. We focus on the clinical consequences and prevention of deficits.

Sodium is the major ion that maintains normal extracellular fluid volume. The renin-angiotensin-aldosterone system, volume and pressure receptors, antidiuretic hormone regulate sodium body content. Sodium determines the body fluids osmolality, the rise in osmolality in the extracellular fluid causes a shift of water from the intracellular to the extracellular (down the concentration gradient). In children, the most common cause of sodium imbalance are dehydration and overhydration. A comprehensive assessment of hydration statein patients is a priority in sodium imbalance that determines the therapeutic procedure. Both hyponatremia and hypernatremia can be life-threatening conditions which require immediate medical intervention. This article describes the causes, clinical manifestations and therapeutic management in sodium imbalance in children.

The increasing number of cases of atopic dermatitis has been observed in recent years. Commonly the first symptoms appear in infancy. Usually these symptoms are recognized as food allergy, even though only 30–50% of well-documented research studies prove to be true food allergy. Such diagnosis often leads to unnecessary use of restricted elimination diets. Meanwhile too little attention is paid to the proper skin careand reduction of exposure to indoor allergens. Very often the use of emollients is treated as a cosmetic procedure, not therapeutic. Both parents and physicians show symptoms of so-called „steroid phobia”, which to some extent can be understood while these drugs still remain the first line treatment of AD. The article highlights the need for parental education, preferably in the Schools of Atopy.

The Polish Childhood Immunization Schedule contains the mandatory vaccines, funded by Ministry of Healthand recommended vaccines bought by parents. The increasing number of vaccines given concomitantly in children below two years of age has been associated with pain and discomfort. A survey performed among parents, physicians and nurses indicated that administering three or more injections during one visit, among children below two years of age was difficult to accept. A survey showed also that many parents couldn’t afford the combined vaccine because of its high price.

Nutritional programming is the concept indicating that environmental and nutritional factors at criticalor sensitive periods of development in early life, can program and modify metabolism and give rise to long termdetrimental effects in adulthood. The implication of nutrient imbalance, environmental factors and modification of gene expression associated with suboptimal intrauterine condition with impaired fetal growth, hasan enormous potential for future health outcomes leading to the development of cardio-metabolic diseases. Intrauterine programming can occur at any level within the affected physiological system and may involve structural and functional changes. Although the original field of nutritional programming focused mainly on metabolic syndrome and cardiovascular disease, the influence of unbalanced nutrition on many different diseases should be studied. Recently infancy was indicated as a critical period fornutritional programming. Maternal feeding seems to protect against obesity in later life. In a randomized trial high protein intake in infancy was associated with nutritional programming of later overweight risk.

Since 2007, the main objective of the Pediatric Experts Group on Immunization Programme was to include pneumococcal vaccination in the routine vaccination schedule in children under 2 years of age. Vaccination schedule of the Ministry of Health do not include universal pneumococcal vaccination this year. However the National Immunization Programme for 2012 include pneumococcal vaccination programme for the larger risk groups, targeting groups of children with higher epidemiological risk (Table 1)1. Regulation of the Ministry of Health of 18 August 2011on compulsory immunizations, on the basis of Article Paragraph 17. 10 of the Act of 5 December 2008 on preventing and fighting infections and infectious diseases in humans (Journal of Laws No. 234) not only extends the mandatory vaccinations against pneumococcus inrisk groups, but also introduces other changes and shows new regulations.