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Objectives Empirical determination of phenylalanine (Phe) tolerance in patients with phenylketonuria (PKU) relies on frequent assessment of blood Phe concentrations in relation to Phe intake from detailed meal records. This study aimed to determine Phe tolerance in twin pregnancies. Methods The reviewed cases included three women with PKU who each had a singleton and twin pregnancy (i.e., they were pregnant twice). All patients were under regular supervision to maintain Phe concentrations in a steady state and determine safe Phe intake. Restriction of Phe in the patient’s diet was determined depending on the amount of Phe intake, which allowed for stable blood Phe concentrations within the target range. Results In all three patients with PKU, the ratio of Phe tolerance during the course of the twin and singleton pregnancies was Conclusions Our study shows that Phe tolerance in a twin pregnancy is not greater than that in a singleton pregnancy.

Background: Hypospadias (HS) is one of the most common congenital malformations. Complications of corrective surgery in HS correlate with patients’ opinions on their voiding ability and sexual life as adults. Etiology of HS involves both genetic and environmental factors. GCH1, which belongs to recently identified urothelial genes influencing voiding behavior, encodes rate-limiting enzyme catalyzing the production of tetrahydrobiopterin (BH4). A requirement for BH4, a metabolite structurally related to folic acid and riboflavin, in embryonic development was reported. Objectives: The aim of the present study was to investigate the association of selected polymorphic variants of BH4 pathway genes with hypospadias. Methods: We performed an analysis of 6 SNPs of GCH1, PAH and AGMO-DGKB loci in a group of 166 boys with isolated hypospadias and a properly matched control group. Results: There was no evidence for either allelic or genotypic association with the risk of HS for the tested nucleotide variants (rs12425434, rs7485331, rs17128050, rs8004018, rs17128077, rs2191349). The lack of association with single SNPs was confirmed at the haplotype level. The exhaustive multifactor dimensionality reduction (MDR) analysis revealed no significant interactive effect of polymorphic variants of BH4 pathway genes on HS susceptibility. Conclusions: The presented results did not support an association between SNPs of GCH1 and PAH and the risk of HS.

Water is the basic component of the human body at all development stages. The water requirement per body weight is four times higher in infants compared to adults. The only source of water in the first months of life is human milk and/or formula. The main factors determining the choice of water for infants and children are: the total amount, type and content of dissolved minerals (mainly sodium, sulphates, nitrates and nitrites), concentration of minerals and good manufacturing practice as well as implemented and evaluated safety systems for food quality. In the case of infants and children younger than 3 years of age, spring water or low-mineralised natural water is recommended, while moderately mineralised water is allowed in children older than 1 year of age. Water cannot have any, even potential, negative effects on the child’s organism. The main health-related threat associated with water consumption (also water used for formula preparation) is microbiological, agricultural or industrial water contamination. This review presents the most important information about tap and bottled water used to feed infants and toddlers. Studies on well water have also been discussed, raising questions about the legitimacy and safety of its consumption by infants. The review presents a management scheme for water used for the preparation of infant formula as well as potential health-related risks of consuming overmineralised drinking water, water with chemical contamination or water distributed in plastic containers.

Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal recessive disease affecting metabolism. This diet-dependent condition is found in Poland in 1:8,000 live births. Its prevalence in the world (in screened populations) is estimated at 1:12,000, and every 55th individual is a carrier of the defective phenylalanine hydroxylase gene. Phenylketonuria involves the complete absence or partial activity deficit of the phenylalanine hydroxylase enzyme. The metabolic block results in the accumulation of excessive amounts of phenylalanine and its metabolites in body fluids, which leads to central nervous system injury. Adjusting nutrition to the metabolic efficiency of phenylketonuria patients determines proper psychomotor development. A low-phenylalanine diet is the referential treatment method of the classic form of phenylketonuria. Adult women with phenylketonuria in the preconception period and during pregnancy are a particular group of patients. They require a very restrictive low-phenylalanine diet as abnormal blood concentrations of phenylalanine lead to maternal phenylketonuria syndrome, i.e. foetal injury, in pregnant woman with phenylketonuria and poor metabolic control. It is therefore important that adult women with hyperphenylalaninaemia remain under close specialist care (doctors and dieticians), and that gynaecologists, obstetricians, neonatologists, paediatricians and primary care physicians are familiar with maternal phenylketonuria syndrome.

Autism spectrum disorders (ASD) are characterized by impairments in language and communication development, social behavior, and the occurrence of stereotypic patterns of behavior and interests. Despite substantial speculation about causes of ASD, its exact etiology remains unknown. Recent studies highlight a link between immune dysfunction and behavioral traits. Various immune anomalies, including humoral and cellular immunity along with abnormalities at the molecular level, have been reported. There is evidence of altered immune function both in cerebrospinal fluid and peripheral blood. Several studies hypothesize a role for neuroinflammation in ASD and are supported by brain tissue and cerebrospinal fluid analysis, as well as evidence of microglial activation. It has been shown that immune abnormalities occur in a substantial number of individuals with ASD. Identifying subgroups with immune system dysregulation and linking specific cellular immunophenotypes to different symptoms would be key to defining a group of patients with immune abnormalities as a major etiology underlying behavioral symptoms. These determinations would provide the opportunity to investigate causative treatments for a defined patient group that may specifically benefit from such an approach. This review summarizes recent insights into immune system dysfunction in individuals with ASD and discusses the potential implications for future therapies. Electronic supplementary material The online version of this article (10.1007/s12035-017-0822-x) contains supplementary material, which is available to authorized users.

The aim of this paper was to provide information on remarkable influence of scientists, who emigrated from the East Europe in to the USA, in the entire field of the Guthrie test invention. While working as graduate assistant at the University of Maine, Robert Guthrie trained in bacteriology with Dr. Stanislas F. Snieszko (1902–1984), “who turned out to be an influential person in his life” (as was stated in Guthrie's biography by JH Koch). Snieszko was born in Krzyz, Poland. He graduated in Jagiellonian University in Krakow. His imprint on fish microbiology was first established as a distinguished professor of bacteriology at Jagiellonian University, and later in the USA as a director of the National Fish Health Research Laboratory at Leetown. Snieszko was a pioneer and a leader in non-parasitological fish diseases and their prevention and control. He had become popular as an outstanding teacher (see well-known Snieszko's diagram of the epidemiological triad presented in 1974) as well as one of the most respected researchers in fishery. Using the same bacteria and technique applied in bacterial inhibition assays to screen for different antimetabolites in cancer patients, Guthrie and his lab technician, Ada Susi (1918–2002), who was born and educated in Estonia, developed a simple and cheap test for phenylalanine in whole blood dried on filter paper.

Introduction Water is an integral part of a healthy diet. Natural water in the most effective way quenches thirst and hydrates the body. Mineral water is recommended for infants while introducing solid food. Flavored water is very popular in Poland. Those beverages are based on mineral water with addition of sucrose or glucose-fructose syrup, flavor additives, preservatives and antioxidants. The aim of the study was to evaluate the consumption of flavored water by children hospitalized in Department of Pediatrics, Institute of Mother and Child in Warsaw. Materials and methods Detailed data on water consumption was collected from parents of 109 children aged from 6 months to 18 years. An original questionnaire was developed as a tool for survey research. It comprised questions on the frequency of water consumption (per day/week/month) as well as the selection of flavored waters. Results Flavored water was consumed by 43 (39.4%) children, out of whom more than half were aged between 4 and 18 years. Infants were less likely to receive flavored water (1 of 10). Among the most preferable flavors were: strawberry (37%), apple (18,6%) and lemon (16%). Conclusion A large percent of parents perceive flavored water as a healthy drink in their children's diets. There is a strong need for parental education about the potential adverse effects of those beverages on the child's health.

Regardless of diagnosis, chronic disease usually stigmatizes any patient. Social stigmatizing is one of the major risk factors for the quality of an individual's psychosocial functioning. Because of label of disease, patient is often ostracized. Social rejection equals a decline in mood and self-esteem. It also threatens emotional, social and intellectual growth of patients, particularly in developmental age. Limitation of peer contacts and lack of self-esteem may contribute to a loss of motivation. Such a condition often leads to discontinuation of medical recommendations. The stigma of the disease exerts a strong influence on the whole family system. Both patient's parents and siblings struggle with burden, whose negative consequences are reflected in family's and social's relationships as well as daily functioning. This paper discusses the definition, mechanism of the phenomenon, and consequences of social stigma, as well as presents literature review relating to stigmatization in the context of selected chronic diseases and family burden.

The aim of this paper was to provide information on the first observations of maternal phenylketonuria syndrome. 60 years ago, in 1957, CE Dent's and GA Jervis's discussion of a paper by Dr MD Armstrong “The relation of the biochemical abnormality to the development of the mental defect in phenylketonuria” was published. Moreover, scientific and clinical work, as well as impressive biography of Charles E. Dent, was reviewed. Dent was always looking for new techniques and new ideas to apply to inherited errors of metabolism. He was elected Fellow of the Royal Society in 1962. Role of communications during conferences and case reports may vary according to the clinical specialty. Undoubtedly, such reports will help communicate detailed aspects of a clinical observation in rare inborn errors of metabolism.

Introduction In Poland, outpatient care has not yet been tested with validated tools. Many care providers use author's questionnaires that, which do not have their psychometric properties evaluated, which may result in misinterpretation of the expectations of patients and their parents. The use of standardized research tools is a prerequisite for obtaining reliable test results. Objective The aim of the study was to adapt the German Kinder ZAP questionnaire to evaluate the satisfaction of the parent with pediatric outpatient care, both from the perspective of the patient and himself. Material and methods The Polish version of the Kinder ZAP questionnaire was developed in accordance with the standards of adaptation and tool validation. The psychometric properties of the tool were tested on a sample of 362 parents with developmental progeny. The collected data were analyzed by factorial method with varimax rotation and confirmatory analysis. The reliability of each test scale was determined by the Cronbach alpha coefficient. Results During the analysis, 8 factors were identified in two blocks: for parental assessment (5 factors) and child (3 factors). The internal structure of the created tool was a replica of the Kinder ZAP questionnaire, both in terms of the number and content of the questions assigned to each factor. The selected factors served as a basis for the construction of the target scales of the Polish adaptation of the tool. Each of the scales was characterized by high reliability (α = 0.82−0.97). Conclusion Providing high quality medical services requires direct reference to the practitioner (patients and their families) through reliable measurement of satisfaction with health care. The Polish version of the Kinder ZAP questionnaire can be used to measure the satisfaction of outpatient pediatric care both from the perspective of the parent and the child.

Aim The aim of study was to analyze the assortment of bake-off bread in selected supermarkets and discount stores and preliminary assessment of safety of consuming bake-off products, especially in terms of pediatric. Material and methods The availability of bake-off bread in selected supermarkets and discount stores was assessed. Bread composition, food additives and mixes for bakery products were analyzed. Results A total of 277 bake-off products were analyzed. 84.8% of the assortment was produced by combined use of 29 food additives. The most commonly food additives were pH control agents (60.4%) and emulsifiers (19.5%). Starch, gluten, sugar, glucose, rapeseed oil and mixes for bakery applying were also reported. Conclusions Widespread use of food additives in bake-off technology can be the reason of food hypersensitivity in children with allergic diseases. Consumer education about reading the labels of food products and appropriateness of bread consumption produced without food additives is advisable.

This review gives some insight into the descriptions of phenylketonuria in fiction literature ( e.g. T. Storm's The rider on the white horse , P.S. Buck's The good earth ) and biographies ( e.g. P.S. Buck's The child who never grew , C.J. Stevens's The miracle of Bryan Pearce ). The Storm's novel was published in German in the year 1888, in which I.A. Folling, the discoverer of phenylketonuria, was born. Sources for the inspiration of the author of “The rider on the white horse” are discussed. The study of patients’ descriptions in great works of fiction can stimulate medical professionals to recognize the psychological and sociological complexity and diversity of human life and the power and implications of what they do. It was suggested that the use of selected novels in medical education can provide an enriching humanistic balance which is often lacking in a strict textbook approach.

Vitamin B 12 deficiency is rare in the paediatric population. The most common cause is a diet low in animal products. Particularly at risk are infants exclusively breast-fed by mothers with hypovitaminosis B 12 . Much rarer causes include disorders of cobalamin absorption, transport or metabolism. There are mainly haematological, neurological and gastrointestinal symptoms. Diagnostic tests should include complete blood count with differential, including the MCV and RDW, the concentration of ferritin, folic acid and cobalamin in the serum and plasma homocysteine, and methylmalonic acid excretion in urine. We present the case of 10-month-old girl breast fed, admitted to the Paediatric Department due to inhibition of weight gain and developmental delay. Among the first symptoms of vitamin B 12 deficiency, which occurred in the child 6 months of age, was refusal to solid food. Increased MCV and RDW with normal haemoglobin values were observed in blood counts performed in 7 months of age. During hospitalization we noticed significantly elevated plasma homocysteine levels and a very large excretion of methylmalonic acid in the urine, which quickly normalized after the start of treatment with cyanocobalamin. At the beginning of therapy the benign myoclonic jerks occurred, which resolved spontaneously after a few days. Regression of neurological symptoms was not fully satisfactory. Lack of acceptance of foods other than breast milk can be one of the first signs of vitamin B 12 deficiency in infants and contribute to the severity of the deficit.

Phenylketonuria is one of the best-known examples of inherited metabolic diseases. It is widely considered as a triumph of western medicine. Untreated phenylketonuria manifests as mental retardation, epilepsy, light complexion, eczema, and a „mousy” odour. This review gives some insight into history of the use of the disease's name, which was probably coined by the biochemist J.H. Quastel and focuses on the contributions of the first medical investigators in the area of abnormal phenylalanine metabolism – I.A. Folling, L.S. Penrose as well as G.A. Jervis. The story of the first family with children diagnosed to have phenylketonuria is presented.

Background Health professionals are frequently asked to advise on aspects of food choosing. The differential effects of various dairy products on human health might be caused by the presence of milk fat globule membranes (MFGM). Milk cream is the richest source of MFGM with relatively intact structure. The system of food provision has a major impact on what people choose to eat. Objective The aim was to investigate the availability of plant oil-based milk cream substitutes (OCS) across a wide range of stores. Methods The availability of OCS and milk cream, with or without thickeners, was surveyed at 11 different chain stores across four store categories (hypermarkets, supermarkets, budget markets, and corner shops). Data were collected in Warsaw in November 2015. Content information for each type of product was collected from labels in store. To ensure consistency, the same researcher collected all data, which meant that any bias from subjective assessment was constant. Results Milk cream with thickeners and also milk cream without thickeners were available in all the shops. Five of the 11 (45%) surveyed stores supplied OCS. OCS were more likely to be available in the largest stores. The number of OCS types per shop was from 0 to 3. The highest availability of OCS in shop was 1 in 7 (14%) cream products. The recorded retail prices in this study indicated a large variance for OCS marketed as premium oil and milk mixes and products mimicking “creme fraiche” (with 12% or 18% palm oil). Conclusions There is high availability of OCS in the investigated stores. Mapping of food available could be useful in providing baseline nutritional information for consumers.

The project “Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study” is a case-control study in a group of unrelated subjects with non-syndromic cleft lip with or without cleft palate (NSCL/P) and healthy individuals with no family history of clefting or other congenital disorders. The overall goal of this grant proposal is to identify novel genetic factors, which can play a significant role in the pathogenesis of orofacial clefts in the Polish population. To accomplish the proposed aim, a two stage genome-wide association study will be performed. In the first stage, Illumina's HumanOmni Express BeadChips arrays will be used to genotype over 700,000 polymorphisms in NSCL/P patients and controls. In the second stage, SNPs showing the most compelling association with the risk of orofacial clefts will be tested in an independent sample set using standard genotyping methods. This research project is expected to be completed in July 2015.

Non-celiac gluten sensitivity (NCGS) is a newly recognised clinical entity by academic medical professionals, but it is better to consider it an old diagnosis recently rediscovered. The overall prevalence of NCGS in the general population is currently unknown largely because patients often self-diagnose and place themselves on the celiac-type gluten-free diet (GFD) without medical supervision. NCGS is an umbrella term and may incorporate different subgroups of patients. Now there is no specific biomarker that can be used to identify the entity. NCGS diagnosis can be reached only by excluding celiac disease and wheat allergy. Symptoms must disappear with the withdrawal of gluten and reappear quickly when gluten is reintroduced. NCGS existence has been recently supported by two expert meetings, however mechanisms by which gluten triggers symptoms, mimicking irritable bowel syndrome and skin rashes, numbness,”foggy mind”, disturbed sleep patterns, have yet to be identified. Knowledge about NCGS natural history and outcome is still lacking. NCNG is the entity awaiting better diagnostics criteria, however a dietary approach for the management of patients with gastrointestinal symptoms and lack of well being no longer seems elusive. There is a growing segment of the population that seeks out gluten-free products because of a wider notion that gluten-free constitutes a healthier option. Major area of concern that must be addressed by medical professionals is the high cost of GFD.

Introduction Consumption of gluten proteins leads to an enteropathy characterised by lymphocytic infiltration of mucous membrane, crypts hypertrophy, and atrophy of villi. Enteropathy leads to disturbances in the immune system as well as secondary deficiency of vitamin E. Aim Analysis of the concentration of vitamin E in erythrocytes of patients with celiac disease. Material and methods Three experimental groups were distinguished among 77 patients with histologically confirmed celiac disease (mean age: 17 years): those who strictly respected gluten-free diet (group I, n = 48), patients breaking dietary recommendations (group II, n = 22), and those with newly diagnosed disease (group III, n = 7). Additionally, a control group consisting of healthy individuals with negative serological markers of celiac disease was formed (group IV, n = 20). Vitamin E concentration was determined by high performance liquid chromatography with ultraviolet detector. Results Significantly lower average concentration of vitamin E was demonstrated in erythrocytes in all examined groups of patients with celiac disease compared to the control group. Among the patients with celiac disease, the highest average concentration of vitamin E in erythrocytes was observed in the group who respected the gluten-free diet, a little lower in patients who violated dietary recommendations, and lowest among patients with newly diagnosed disease. These relationships, however, were not statistically significant. Conclusions Patients with celiac disease are at risk of vitamin E deficiency irrespective of their diet. Vitamin supplementation should be considered in their case, especially immediately after diagnosis of the disease and in case of breaking a gluten-free diet regime.

Coconut palm probably derives from Polynesia or Asia. The variety of coconut products in Poland includes fruit of the coconut, desiccated coconut, oil, water, milk, sugar and coconut flour. Over the years, coconut products are becoming more and more popular. Their import and consumption in Poland are increasing. Coconut products have also many health benefits. They have anti-inflammatory, antitumor and hepatoprotective properties. The aim of this paper is to review the literature on changes in the market of vegetable fats in Poland in recent years and the variety and health properties of various coconut products.

Over recent decades, the modern lifestyle dynamic has led to an increased reliance on commercially marketed vegetable foods. Till date in Poland, insufficient attention has been paid to the composition of “ready-to-eat” horse radish products. The aim of this work was to analyse declared content of horseradish products. Methods 25 brands of grated horseradish in a glass jar were identified in retail outlets in Warsaw in December 2014. The content declared by the manufacturers on the product labels were analysed. Investigations were focused on authentic grated root content and identification of additives. Results The mean horseradish root content was 56.7 ± 7.4% (44–70%). One brand was made from a local cultivar of the Bieszczady Mountains. In 22 (88%) brands sodium sulphite was an antimicrobial preservative and a bleaching agent. One brand contained titanium dioxide. Conclusion Commercial grated horseradish products were diluted with significant amount of water and E410, E412, E415, E1422, as well as other starch fillers.

Autism is a pervasive developmental disorder, the incidence of which has significantly increased in recent years. Children with autism have impairments in social skills, communication, and imagination. The health state of the mother seems to be particularly important, especially metabolic disorders during and before pregnancy. One of the important factors, that may affect the risk of autism in children, is maternal overweight/obesity during pregnancy. Obesity which is linked to bad eating habits alters homeostasis resulting in oxidative stress, inflammations and hormonal disturbances. All of these factors may predispose to abnormalities of fetal growth and result in the occurrence of neurodevelopmental disorders such as autism. The aim of this paper is to review the literature on the relationship between maternal obesity during pregnancy and risk of autism in children.

The red cell distribution width (RDW) is a measure of the variation in the size of erythrocytes. It is widely used to differentiate types of anaemia. Moreover, the association of RDW with inflammatory biomarkers has been demonstrated. Recently, RDW has been proven to be a strong predictor of cardiovascular disease. Further, a strong correlation between RDW and the severity of liver cirrhosis has been shown, and also, there are observations showing the importance of RDW in pulmonary and renal diseases, diabetes, inflammatory bowel disease and coeliac disease. However, most of the previous studies were conducted on adults but this fact may be instrumental in motivating similar studies to be conducted on children in the future.

This paper discusses the issues related to the hen's egg. It describes the process of laying eggs and bio-physicochemical changes which occur over time. The study cites data on production and consumption of eggs in Poland and discusses the principles of classification of eggs intended for retail trade. The study contains an analysis of the composition of eggs as well as the impact of diet and bird species on the content of the individual components. It presents Polish recommendations for introducing eggs into a child's diet and the benefits that this involves. The paper brings closer diverse opinions of many scientific societies on the impact of egg consumption on cardiovascular diseases. It describes the problem of eggs as frequent allergen and the risks associated with the use of vaccines produced on the basis of egg white.

The concept of paleolithic diet is based on an assumption that modern human is not evolutionarily adapted to contemporary nutrition, which may result in high frequency of diseases considered as civilization-related such as ischemic heart disease, arterial hypertension, obesity, diabetes, cancer and other. In the article, reconstruction of the diet is presented and it is compared to modern nutrition guidelines. In addition, the most common objections against the paleodiet are quoted. The subject of the paleodiet remains an open research concept whose development can influence nutrition recommendations.

Phenylketonuria (PKU) is an autosomal recessive metabolic disease caused by an error of phenylalanine metabolism. Delayed treatment or treatment performed unsystematically might lead to neurological disorders and progressive intellectual disability. In the Prader-Willi syndrome (PWS) clinical manifestations change with age. Feeding difficulties resulting from the poor suck and hypotonia are typical in the neonatal period and early infancy. As patients grow their activities increase, muscle tone improves, the extreme hyperphagia appears – the main cause of obesity. Mental development of patients is usually mildly retarded. We report the case of a patient affected by two genetic diseases: PKU and PWS. Variety of clinical symptoms and abnormal results of laboratory analyses make the correct diagnosis difficult. Elevated phenylalanine level in screening newborn test, disorders of muscle tone, poor suck, and low urine biopterin concentration did not allow to clearly rule out the hyperphenylalaninemia caused by a tetrahydrobiopterin deficiency (BH4). Data from obstetric anamnesis and the early postnatal clinical findings suggested the PWS. Hyperphagia and the increased risk of carbohydrates tolerance disorders in patients with PWS make it very difficult to balance properly the low-phenylanine diet necessary in PKU treatment. The patient presented by us needs well-coordinated multidisciplinary medical care which aims to provide proper physical development and to support the boy's mental potential as well as appropriate functioning in the society.

Introduction Numerous investigations have demonstrated that the fatty acids composition of egg yolk is readily modified by dietary fat. Eggs are the most excellent vehicles to incorporate several health-promoting componenets, like docosahexaenoic acid (DHA), in it. In Poland, processing industries have been successfully manufacturing and marketing jarred baby foods. Aim We aimed to survey manufacturer claims concerning added eggs yolk in jarred infant foods supplied to the Polish market. Methods In August 2013, a total of 194 jarred so-called dinners in seven markets located in Warsaw were analyzed. Only three types of ready-to-eat jars contained yolk. The reduction of DHA intake may be due to increased intake of DHA-poor foods. Conclusion Better information on nutritional value of yolk and counselling of parents is desirable.

The CDH1 gene plays an important role during carcinogenesis and craniofacial morphogenesis. Germline mutations in this gene have been described in families presenting syndromic diffuse gastric cancer and orofacial clefts. The aim of this study was to evaluate the association between nucleotide variants of CDH1 and the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P). Six single nucleotide polymorphisms (SNPs) of the CDH1 gene (rs16260, rs9929218, rs7186053, rs4783573, rs16958383, and rs1801552) were genotyped using the TaqMan SNP genotyping assays in 250 patients with NSCL/P and 540 controls from the Polish population. Comparison between patient and control groups showed that the CDH1 rs1801552 variant, under the assumption of recessive model, was associated with a two-fold decrease in the risk of NSCL/P (ORTT vs CT + CC = 0.481, 95 % CI 0.281–0.824, p = 0.007). This association remained statistically significant even after the multiple testing correction. No significant associations with NSCL/P risk were found for the other five tested SNPs. We found a strong association between the cancer predisposing gene CDH1 and the risk of NSCL/P in the Polish population. This result, together with previous observations of co-occurrence of orofacial clefts and a variety of cancer types, suggests the need for replication studies testing rs1801552 in NSCL/P cohorts with a known cancer history.

Galactosemia, rare inherited metabolic disease, causes 1–3% of all cases of congenital cataract. Lens opacity occurs even in 68% of patients with classic galactosemia and in almost all galactokinase deficiencies. Decreased enzymatic activity results in overproduction and accumulation of galactitol in eye lens, which leads to lens opacity due to osmotic swelling of lens cells. Such dysfunction of galactose metabolic pathway enzymes can also lead to presenile cataract formation. Early diagnosis and dietary intervention, in most cases, lead to regression or delay of cataract formation. Unfortunately, surgical treatment is needed in some patients, especially those with insufficient dietary compliance.

Eating disorders are serious threat to children and adolescents living in western countries. Parental influence as well as sociocultural standards, shapes specific attitudes towards selection, preparing and consuming food among juveniles. Orthorexia is a form of eating disorder, which is based on concentration over quality of consumed food. The paper provides symptomatology of orthorerxia along with various risk factors that may cause children and adolescents to develop disturbed eating behaviours.

Background Lack of knowledge about the symptoms and diagnosis of celiac disease can lead to a significant delay in diagnosis. Awareness of the disease and of its common occurrence translates into increased probability of putting forward the initial diagnosis and further diagnostics. Aim The aim of this study was to investigate frequency and choice of scientific journals with articles in Polish about celiac disease and their comparison with literature on Crohn's disease for the last 20 years. Materials and methods We used an iteractive search process to identify all articles on database Polish Medical Bibliography (1979–2013) made available by Warsaw's Central Medical Library in June 2013. Articles published in the years 1990–2012, written in Polish and indexed under key words “celiac disease” and “Crohn's disease” have been searched. Distribution of articles in journals and among the authors has been analysed. Results 462 publications were qualified to analyses with the keyword “celiac disease” and 510 with the keyword “Crohn's disease”. In years 1992–1996 articles with the keyword “celiac disease” 3-times outnumbered the works on Crohn's disease. In the first decade of the twenty-first century, a significant growth in number of scientific articles about Crohn's disease was observed. In years 2007–2011, literature on celiac disease measured by the number of publications was nearly half smaller). Ten journals with the highest number of articles with the keyword “celiac disease” posted nearly 62% of all publications related to celiac disease. Similar index for Crohn's disease was 60%. Three journals with the largest number of articles about celiac disease are notable for their pediatric focuses. The top-10 prolific authors have contributed to the creation of 55.4% of all publications on celiac disease and 34.5% of the articles about Crohn's disease were co-created by the 10 most prolific authors. Conclusions In the recent 10 years the number of Polish-language publications on celiac disease is invariably small. To sensibilize Polish medical professionalists to celiac disease probably may help: (1) greater influx of articles to Polish language journals, (2) selection of journals focusing not only on pediatrics and gastroenterology.

The black chokeberry, Aronia melanocarpa (Family Rosaceae), is native to North America and was introduced into Europe in the XIX century. Aronia melanocarpa contain particularly high amounts of procyanidins, anthocyanins, and phenolic acids. These antioxidants reduce the oxidative damage of human cells that can lead to cancer, heart disease, diabetes, hypertension, hypercholesterolemia. The black chokeberry may be used in the treatment and prevention of numerous civilization diseases.

Feeding disorders are common pediatric problems with diverse etiology. They are associated with organic diseases, especially digestive, circulatory and neurological conditions. Psychological factors may also play an important role. We present a case of infant admitted to hospital because of feeding disturbances and poor weight gain. Based on differential diagnostics we excluded organic causes of feeding disturbances in the presented case. Clinical observations and further events let us diagnose an incorrect mother–child relationship as possible reason of feeding disorder in our patient.

The results of 17 clinical trials on application L. plantarum 299v are presented in this review. According to them, it seems that usage of this strain is safe and could bring beneficial effects in treating patients with functional gastrointestinal disorders, infectious diarrhoea, recurrent C. difficile infection, acute pancreatitis, after liver transplantation and hospitalised in intensive care units. However, particular directions to usage of L. plantarum 299v in medical practice, especially in paediatrics, needs some further investigations performed on larger group of patients, also in developmental age.

Lesch-Nyhan syndrome is a rare inborn error of metabolism with very poor prognosis. Patients vary in many ways but all seem to have impairments to some degree in uric acid metabolism, motor development, and behavior. A careful evaluation is essential toward making the appropriate diagnosis. A case of infant with motor delay, spasticity, dystonia, and crystalluria is reported. Treatment based on allopurinal (12 mg/kg of body weight/24 h) reduced serum hyperuricemia to values

Introduction: Supermarkets together with their wide range of products are considered to be the major arenas of free choice of products. Marketing research has suggested that in-store environmental stimuli may induce substantial demand. A substantial body of research has determined that juice consumption is a risk factor of obesity among youth. Recently, research on dietary pattern increasingly focuses on the food environment. Unfortunately, there is a little data on exactly what infant food supermarkets stock. The greater share of the product on the shelf, the higher possibility to be chosen. Methods: In June 2012 we evaluated infant food aged 5–12 months in 6 supermarkets located in Warsaw. The methodology was based on tracking the information that consumer see when visiting a shop. We focused on four broad categories: porridges, dinner and dessert jars, fruit-based beverages, and infant tea. We analyzed the manufacturer and its offer of infant food, as well as length of shelves occupied by the broad categories of food. Results: The average length of shelves with fruit-based beverages and infant tea consisted 22% and 7% of total shelves length (porridges + jars + fruit-based beverages + tea), respectively. In 2 of 6 markets the length of shelves with juice and fruit drinks was higher than with porridges. The greatest offer of infant tea consisted of 29 types from 5 suppliers. Conclusions: This exploratory research allowed us to conclude that the space allocated to juice and fruit drinks is clearly larger than that recommended in dietary. In-store marketing cannot be ignored as having the critical influence on consumer behavior. From an academic point of view, there is a need for a continuous and careful study of relationship between infant food in-store marketing and nutritional guidelines.

OBJECTIVE: To evaluate dental arch relationship in preschoolers with unilateral cleft lip and palate after early alveolar bone grafting (ABG). MATERIALS AND METHODS: Three raters blindly assessed the dental arch relationship with the GOSLON Yardstick (using a 5-point scale, from 1--very good to 5--very poor outcome) in Early-grafted group (27 boys and 15 girls; mean age = 5.2 years, SD 0.5) and Non-grafted group (17 boys and 12 girls; mean age = 5.8 years, SD 0.8). The groups differed regarding the age when ABG was performed: between 2 and 4 years (mean = 2.4, SD 0.6) in the Early-grafted group and after 9 years in the Non-grafted group. The strength of agreement of rating was evaluated with kappa statistics. RESULTS: The intra- and inter-rater agreement was high (kappa > 0.800). The mean GOSLON score in the Early-grafted group was 2.72 and in the Non-grafted group -2.64. The distribution of the GOSLON grades in the Early-grafted group was: 54.8% had a score 1 or 2, 23.8%--3, and 21.4%--4 or 5; in the Non-grafted group, 38.0% subjects scored 1 or 2, 41.4%--3, and 20.6%--4 or 5 (p = 0.023). CONCLUSIONS: Early alveolar bone grafting carried out between the ages of 2 and 4 years was not found to negatively affect dental arch relationship by the age of 5 years. However, it is possible that such a negative effect could be found if a longer observation period (e.g. at age 10 years or age 15 years) was allowed.

Orofacial clefts are thought to be determined by the interplay of genetic and environmental factors. Experiments on animals demonstrated that vitamin B12 supplemented diets antagonize selected teratogens during palatogenesis. Increased propionylcarnitine in neonates is regarded as a marker of maternal vitamin B12 deficiency. The retrospective study was undertaken to determine whether increased propionylcarnitine in newborns is associated with orofacial clefts. Fifty-two newborns with isolated cleft lip with or without cleft palate (CLP) and 107 control newborns without congenital anomalies were investigated. Whole blood propionylcarnitine concentrations were measured using tandem mass spectrometry. The mean concentrations of propionylcarnitine in newborns with clefts and controls were 2.82 ± 1.06 µmol L−1 and 2.68 ± 0.94 µmol L−1, respectively. T-test for equality of means did not confirm any significant differences between both groups (P = 0.381). Deficiency of vitamin B12 with metabolic disturbances seems not to be a risk factor for CLP in the investigated group of patients.

Non-syndromic cleft lip with or without cleft palate (CL/P) has severe long-lasting adverse effects on both physical and psychological development. Although recent years have brought significant improvement in clinical treatment, our understanding of the etiology of this congenital anomaly is lagging. Many genes, genetic pathways, harmful exposures, as well as nutrient deficiencies have been implicated in abnormal palatogenesis. Extrapolating data regarding risk factors for CL/P from different populations is not always straightforward. This review gives an overview of knowledge about both environmental and genetic risk factors in the etiology of CL/P in the Polish population, which was originally presented in research papers by the author and collaborating investigators. The findings suggest a possible association between maternal consumption of α-tocopherol, retinol, zinc, citrulline, and dietary compounds contributing to methyl-group homeostasis and CL/P risk. Polymorphisms in BHMT1 and BHMT2 were significantly associated with decreased CL/P risk in the Polish population. Other interesting findings include associations of CL/P risk with polymorphisms in MTR, PCYT1A, ASS1, SLC 25A13, GSTM1, GSTT1, SUMO1 genes, and 8q24.21 loci. Reviewed research papers indicate interesting pathways and new candidate genes for further investigation, and partly confirm earlier findings according risk factors for orofacial clefts.

Streszczenie Wstep Metabolity talidomidu, np. pochodne kwasu glutarowego, dzialają teratogennie. Zwiekszone wytwarzanie kwasu glutarowego skutkuje wzrostem stezenia glutarylkarnityny (C5DC). W badaniu przesiewowym noworodkow w kierunku kwasicy glutarowej są wykorzystywane oznaczenia C5DC. Cel Celem pracy byla analiza stezenia C5DC u dzieci z rozszczepami twarzoczaszki. Metody Retrospektywnie analizowano wyniki oznaczen C5DC w badaniach przesiewowych noworodkow metodą tandemowej spektrometrii mas (MS/MS). Grupe badaną stanowilo 51 pacjentow z izolowanym rozszczepem wargi polączonym lub nie z rozszczepem podniebienia. Do grupy kontrolnej zakwalifikowano 107 zdrowych dzieci bez wad wrodzonych. W analizie statystycznej wykorzystano testy sumy rang Wilcoxona i χ 2 . Wyniki Stezenia glutarylkarnityny (mediana; IQR) byly istotnie statystycznie wieksze u noworodkow z rozszczepem twarzoczaszki w porownaniu z noworodkami bez wad wrodzonych; 0,062 (0,044–0,083) μ mol/l vs 0,045 (0,034–0,067) μ mol/l, p=0,001. U dzieci z wadą nie stwierdzono wystepowania stezenia C5DC mniejszego od 5 centyla w grupie kontrolnej. Wniosek Uzyskane wyniki sugerują zaleznośc pomiedzy homeostazą kwasu glutarowego a palatogenezą.

Streszczenie W pracy przedstawiono historie obecności bananow w diecie ludzi oraz wyniki najnowszych badan dotyczących stosowania diety bananowej w leczeniu biegunki i niedozywienia. Bogate piśmiennictwo sugeruje takze znaczenie bananow w zapobieganiu nowotworom, chorobom ukladu krązenia oraz hipokalimii.

Achieving a successful and well-functioning reconstruction of craniofacial deformities still remains a challenge. As for now, autologous bone grafting remains the gold standard for alveolar cleft reconstruction. However, its aesthetic and functional results often remain unsatisfactory, which carries a long-term psychosocial and medical sequelae. Therefore, searching for novel therapeutic approaches is strongly indicated. With the recent advances in stem cell research, cell-based tissue engineering strategies move from the bench to the patients' bedside. Successful stem cell engineering employs a carefully selected stem cell source, a biodegradable scaffold with osteoconductive and osteoinductive properties, as well as an addition of growth factors or cytokines to enhance osteogenesis. This review highlights recent advances in mesenchymal stem cell tissue engineering, discusses animal models and case reports of stem cell enhanced bone regeneration, as well as ongoing clinical trials.

INTRODUCTION: Hypospadias has a complex etiology with both genetic and environmental factors contributing to the condition. Urogenital abnormalities including hypospadias, are found in 22% of cases with Ellis van Creveld syndrome (EvC). Mutations in the EVC gene can cause major and minor anomalies, which form phenotypes that partially overlap with those present in EvC. The aim of this study was to evaluate the association between nucleotide variants of the EVC gene and the risk of hypospadias. MATERIAL AND METHODS: Four single nucleotide polymorphisms (SNPs) of the EVC gene (rs3774856, rs2302075, rs1383180, rs7680768) were taken under investigation in 96 patients with isolated hypospadias and 284 matched controls. Genotyping of all polymorphisms was carried out by PCR and followed by appropriate restriction enzyme digestion (PCR-RFLP). RESULTS: Individuals homozygous for the SNP rs2302075 (p.Thr449Lys) showed an elevated risk for hypospadias. Haplotypes containing the rs2302075 variant also revealed modest associations with hypospadias, which did not survive multiple testing corrections. None of the other tested EVC polymorphisms displayed significant association with the risk of hypospadias, either in dominant or recessive inheritance models. CONCLUSIONS: The results of this study suggest that polymorphic variants of the EVC gene do not substantially contribute to the risk of hypospadias based on our study population. However, further studies should help to clarify the relationship between polymorphisms of EVC and hypospadias.

Do niedawna metabolizm nie-bialkowego aminokwasu cytruliny nie cieszyl sie zainteresowaniem badaczy. Synteza cytruliny de novo ma miejsce w enterocytach, a jej stezenia są uwazane za marker prawidlowej czynności jelita cienkiego. Stezenie cytruliny w pelnej krwi u nowo diagnozowanych chorych na celiakie jest male. U osob genetycznie usposobionych do rozwoju celiakii gliadyna moze uszkadzac plodową i matczyną cześc lozyska. Male stezenia cytruliny we krwi po urodzeniu moglyby odzwierciedlac niekorzystne dzialanie gliadyny rowniez na jelito cienkie. Retrospektywna analiza wykazala prawidlowe stezenia cytruliny w przesiewowym badaniu noworodkow u dwojga dzieci ze zdiagnozowaną celiakią oraz u potomstwa kobiety z zaniedbaną celiakią. Przedstawione przypadki kliniczne nie sugerują, ze oznaczenia stezenia cytruliny w pelnej krwi z badania przesiewowego noworodkow mają wartośc prognostyczną w ocenie ryzyka rozwoju celiakii.

Cystynuria jest chorobą metaboliczną, w ktorej zaburzony jest nerkowy i jelitowy transport aminokwasow dwuzasadowych. Z powodu malej rozpuszczalności cystyny w moczu latwo tworzą sie zlogi z tego aminokwasu. Procesowi krystalizacji moze zapobiegac odpowiednie nawodnienie oraz modyfikacja diety chorego. W ostatnich latach w terapii kamicy cystynowej stosuje sie kaptopryl. Lek ten m.in. wykazuje aktywnośc przeciwutleniającą. Celem pracy bylo zbadanie calkowitej aktywności przeciwutleniającej osocza (TAS) u chorych na cystynurie. Material i metody Badaniem objeto 11 chorych z nawracającą kamicą cystynową. Grupa kontrolna liczyla 18 zdrowych dzieci. Pomiary TAS w osoczu wykonano metodą kolorymetryczną. Wyniki U chorych średni poziom TAS byl istotnie statystycznie mniejszy (1,21 ± 0,06 mmol/l) niz w grupie kontrolnej (1,29 ± 0,06 mmol/l, p Wniosek Zaburzenia rownowagi antyoksydacyjnej mogą byc powiązane z klinicznym obrazem cystynurii.