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Spinal muscular atrophy (SMA) is a rare disorder that affects about 1/7000-8000 people in Poland. The disease can be successfully treated with available targeted drugs such as nusinersen, onasemnogene abeparvovec and risdiplam that are available from public funds for every SMA patient. The newborn screening for SMA has been implemented in March 2022 and since then it was implemented in whole country as a part of National Newborn Screening Programme. Herein, we present our three-year experience with SMA as a routine part of NBS. Newborn screening for SMA as a genetic test is not obligatory and parents have to consent for molecular testing (opt-in). Standard dried blood spots are used for DNA extraction and a PCR-HRM based test (SALSA MC002 SMA Newborn Screen test, MRC-Holland) is used for screening. After the positive result of first-tier test, we perform follow-up testing with MLPA technique (P021 kit, MRC-Holland). During 3 years, over 750 000 newborns were screened and SMA has been confirmed in 101 children that were admitted to regional children neurological clinics. The results of the first-tier test and MLPA verification from blood spot were ready on the 8th day of life (mean: 8.5±3.7; 3 days since registration in the central database). On the day 14th (mean 14.7±5.0; 9 days since registration), the results of the verification test were available. About 70% of diagnosed patients were asymptomatic, others presented mild symptoms of the disease. Three children with 1 SMN2 copy presented with SMA0. The treatment was implemented as soon as possible if patients were carrying from 1 to 3 SMN2 copies (2, 27 and 39 children, respectively). On average, therapy was started at 22nd day of life. The newborn screening for SMA was successfully implemented in Poland and became a part of the routine screening. Our procedure allows for quick identification of SMA patients that would benefit from targeted therapies. Based on the population data, the prevalence of SMA can be estimated at ≈1/7500. [ABSTRACT FROM AUTHOR]

Background: Vitamin D insufficiency (VDI) may be a factor in the development of type 1 diabetes (T1D). The aim of this study is to investigate the presence and persistence of VDI in a large cohort of infants with increased risk of developing T1D, in light of the differences in local supplementation guidelines., Methods: In the POInT Study, a multicentre primary prevention study between February 2018 and March 2021 in Germany, Poland, Belgium, England and Sweden, including infants aged 4-7 months at high genetic risk of developing β-cell autoantibodies, vitamin D levels were analysed at each study visit from inclusion (4-7 months) until 3 years, with an interval of 2 months (first three visits) or 4-6 months (visits 4-8). The protocol actively promotes vitamin D sufficiency to optimise immune tolerance. VDI was defined as a concentration below 30 ng/mL and was treated according to local guidelines of participating centres. Recovery from VDI was defined as a concentration above or equal to 30 ng/mL on the subsequent visit after VDI., Results: 1050 infants were included, of which 5937 vitamin D levels were available for analyses. VDI was observed in 1464 (24.7%) visits and 507 (46.1%) of these were not resolved at the next visit. The risk of having VDI was independently associated with season (higher in winter), weight (higher with increased weight), age (higher with increased age) and country (higher in England). The risk of not recovering from VDI was independently associated with the season of the previously determined VDI, which was higher if VDI was identified in winter., Conclusions: VDI is frequent in infants with increased risk of developing T1D. Treatment guidelines for VDI do not seem effective. Increasing supplementation dosages in this patient population seems warranted, especially during winter, and increasing dosages more aggressively after VDI should be considered., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: To assess the recurrence and birth rates among patients with non-epithelial ovarian cancer., Methods: The study included 146 patients with germ cell (GCT, n = 84) and sex cord-stromal tumors (SCST, n = 62), who underwent fertility-sparing surgery. Adjuvant chemotherapy was administered to 86 (58.9%) patients. Most cases (133 out of 146) were staged FIGO I., Results: The 5- and 10-year disease-free survival rates were 91% and 83%, respectively. The recurrence risk was not associated with tumor histology, stage or age. Twenty-four months after the treatment, the rate of recurrence was higher than the rate of childbearing. The childbearing rates kept rising after the treatment and exceeded the rate of recurrence after 2 years. The cumulative incidence rates of birth 36, 60 and 120 months after treatment were 13.24%, 20.75%, and 42.37%, respectively. Chemotherapy was not related to childbearing. The patients' age was related to the chance of childbearing., Conclusions: The prognoses of GCT and SCST are similar. Close follow-ups along with contraception should be offered to women during the first two years after treatment due to the increased risk of recurrence. After this period, relapses are rare and women can safely become pregnant.

Introduction: Iodine is a pivotal component of thyroid hormones, and its deficiency leads to negative pregnancy outcomes. Therefore, during gestation, additional iodine supplementation is recommended., Objectives: By evaluating a group of women from western Poland, the study updated on iodine status during pregnancy and the effectiveness of iodine supplementation in relation to the maternal and neonatal thyroid function., Patients and Methods: A total of 91 women were recruited before the delivery between 2019 and 2021. During the medical interview, the patients declared their dietary supplements intake. Thyroid parameters (TSH, ft3, ft4, a-TPO, a-Tg, and TRAb) were measured in the serum of mothers and in the cord blood of newborns after birth. Urinary iodine concentration (UIC) and urine/creatinine (UIC/crea) ratio were assessed in single urine samples using a validated high-performance liquid chromatography with ultraviolet detection (HPLC-UV). Neonatal TSH screening from dried blood spot was analyzed., Results: Pregnant women showed a median (interquartile range) UIC of 106 (69-156) µg/liter and UIC/crea ratio of 104 (62-221) µg/g, whereas approximately 20% had UIC/crea below 50 µg/g, indicating iodine deficiency. The iodine supplementation ratio was 68%. No significant differences in UIC, UIC/crea and thyroid parameters were found between iodine supplemented and non-supplemented groups; however, the highest ioduria was detected when iodine was supplemented in addition to levothyroxine in comparison with both substances administered separately. Patients with UIC/crea within 150-249 µg/g demonstrated the lowest TSH and a-TPO levels. Screening TSH was above 5 mIU/liter in 6% of children., Conclusions: Despite the national salt iodization and the recommendation to supplement iodine during gestation, the status of the abovementioned microelement and real-life intake revealed the ineffectiveness of the current iodine-deficiency prophylaxis model in pregnancy., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Filipowicz, Szczepanek-Parulska, Mikulska-Sauermann, Karaźniewicz-Łada, Główka, Szymanowski, Ołtarzewski, Schomburg and Ruchała.)

The aim of the study was to assess the quantity and frequency of meat consumption, especially of red and processed meat, in Poland. The amount of meat consumed was assessed using data from household budget surveys undertaken in 2000, 2010, and 2020. The frequency of consumption was assessed using Food Propensity Questionnaire data from 1831 adults in 2019-2020. Poles consumed 1.35 kg of unprocessed red meat and 1.96 kg of total processed meat per person per month in 2020. The consumption of red meat was lower than in the two previous decades; the consumption of processed meat fluctuated. Pork was the most commonly consumed red meat: 40% of adults consumed pork 2-3 times a week. Beef and other unprocessed red meat were most often consumed less than once a month (29.1%). Processed meat was often consumed: 37.8% of adults ate cold cuts, and 34.9% ate sausages and bacon 2-3 times a week. The consumption of red and processed meat in Poland was high and frequent. In particular, the consumption of processed meat exceeded the recommendations and might increase the risk of chronic diseases. It is necessary to implement activities aimed at reducing the consumption of red and processed meat in Poland.

Uterine sarcomas occur very rarely in young women. Hysterectomy, which is a standard treatment, may not be acceptable for those patients, especially nulliparous women. Fertility-sparing management may be an alternative. The aim of the study was to assess fertility-sparing management in patients with uterine sarcoma. Eleven patients were eligible for the study. Histopathologic types of the tumor included: adenosarcoma (n = 3), low-grade endometrial stromal sarcoma ( n = 3), low-grade myofibroblastic sarcoma ( n = 1), leiomyosarcoma ( n = 1), leiomyosarcoma myxoides ( n = 1), rhabdomyosarcoma ( n = 1), high grade endometrial stromal sarcoma ( n = 1). The mean age of the patients at the time of diagnosis was 27.4 years (range: 17-35) and the average follow-up 61 months (range: 12-158). Six patients received adjuvant treatment: megestrol ( n = 5) and chemotherapy ( n = 1). Recurrence was diagnosed in five cases. Median time to recurrence was 35 months (range: 8-90). Three patients conceived spontaneously following treatment and gave at least one live birth. In total, five full-term pregnancies were recorded and five healthy children were born. Fertility-sparing management may be considered in some patients with uterine sarcoma; however, it may not be appropriate in high-grade endometrial stromal sarcoma. Patients with adenosarcoma may have a low chance of childbearing., Competing Interests: The authors declare no conflict of interest.

Objective: To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS)., Materials and Methods: All children presented in this paper were covered by CF NBS. The group of 1.869.246 newborns was screened in the Institute of Mother and Child in Warsaw within a period of 01.01.1999 - 31.05.2019. Screening protocols evolved over time from IRT/IRT to IRT/DNA/EGA., Results: The authors identified 11 patients with false-negative NBS, in whom CF was diagnosed based on clinical symptoms or the examination of siblings with positive CF NBS. In the study group, the diagnosis was made significantly later in comparison to positive CF NBS patients ranging from 2 months to 15 years of age. CF NBS strategy does not significantly affect the sensitivity of the screening., Conclusion: In the presence of clinical symptoms, additional diagnostics must be implemented, in spite of the negative screening results. At first, the sweat test should be conducted, followed by a DNA analysis of the most common mutations in the given population. The diagnostic process requires searching for CFTR mutations not typically associated with a high chloride concentration in sweat. Repetition of sweat chloride concentration enables the diagnosis in children whose initial chloride values in sweat are borderline, and no CF-causing mutations are detected. In strong clinical indications, the extension of DNA analysis (EGA) is recommended in order to identify rare CF variants. In children with meconium ileus, genetic analysis is mandatory., Competing Interests: Conflicts of interest The authors declare no conflicts of interest., (Copyright © 2021 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.)

Worldwide neonatal screening for congenital hypothyroidism (CH) is a gold standard of active surveillance in newborns. Prompt diagnosis, subsequent timely treatment implementation, and proper dosage of levothyroxine (L-T4) are crucial for normal growth and development, especially of the central nervous system. However, overtreatment may have a potential negative impact on further neurodevelopment. We retrospectively analysed data of 99 newborns with CH diagnosis, referred to the Endocrinology Outpatient Clinic of the Institute of Mother and Child in Warsaw, Poland from the CH screening program from 2017 to 2021. We evaluated the diagnostic process and treatment up to the age of 3 years. We compared groups of children from the first and the second screening groups (FSG, SSG) in the neonatal screening with an evaluation of ultrasound examination (thyroid dysgenesis vs. gland in situ , GIS). The overtreatment and undertreatment risks were assessed and an analysis of the new TSH thresholds was performed. Treatment was implemented at a median of 9 days of life (3 - 27); 8 days (3 - 17) in FSG and 19 (6 - 27) in SSG. The dose of L-T4 differed between FSG and SSG at all three analysed time points (start of the therapy, 12 months, and 3 years) with significantly higher doses in FSG. The same was observed for the patients with thyroid dysgenesis vs. GIS. Screening TSH level was ≥ 28mIU/l in 91.7% of patients with thyroid dysgenesis in comparison to 74.0% of patients with GIS (p= 0.038). The optimally treated group (fT4 in the upper half of the reference range, according to the guidelines) was up to 58.0% of the children during the follow-up. The risk for overtreatment was present in 1/5 of the study group after 12 months and 1/4 after 3 years of L-T4 therapy. Analysis of new TSH thresholds showed an increased prevalence of mild hypothyroidism, GIS, and either euthyroid state or overtreatment while treating with lower L-T4 doses in comparison to the rest of the cohort. The study confirmed the general efficacy of the CH diagnostic pathway and the timely implemented L-T4 therapy. The suspected overtreatment after the first 12 months of L-T4 therapy requires consideration of the earlier diagnosis re-evaluation., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Lipska, Lecka-Ambroziak, Witkowski, Szamotulska, Mierzejewska and Ołtarzewski.)

Biotinidase deficiency (BD) is a rare autosomal recessive metabolic disease. Previously the disease was identified only by clinical signs and symptoms, and since recently, it has been included in newborn screening programs (NBS) worldwide, though not commonly. In Europe, BD prevalence varies highly among different countries, e.g., from 1:7 116 in Turkey to 1:75 842 in Switzerland. This paper aimed to present the molecular spectrum of BD (profound and partial forms) in Polish patients diagnosed within the national NBS of 1,071,463 newborns. The initial suspicion of BD was based on an abnormal biotinidase activity result determined in a dry blood spot (DBS) by colorimetric and by fluorimetric methods while biochemical verification was determined by serum biotinidase activity (as quantitative analysis). The final diagnosis of BD was established by serum enzyme activity and the BTD gene direct sequencing. The obtained results allowed for the estimation of disease prevalence (1:66,966 births, while 1:178,577 for profound and 1:107,146 for partial forms), and gave novel data on the molecular etiology of BD.

Objective: The main goal of fertility-sparing treatment is pregnancy followed by live birth (i.e., successful pregnancy). The principal objective of our study was to evaluate the successful pregnancy rate in patients with borderline ovarian tumors (BOTs) after conservative treatment. The second goal was to evaluate the safety of the conservative approach., Study Design: 110 patients with BOT were retrospectively evaluated. All patients underwent surgical treatment, sparing the uterus and part of at least one ovary., Results: The median age was 28 years (range 17-40 years). Serous and mucinous tumors were found in 63 (57%) and 34 (31%) women, respectively. FIGO stage I, II, and III was diagnosed in 101 (91.8%), 3 (2.7%), and 6 (5.5%) patients, respectively. The 3- and 5-year progression-free survival was 82.5% and 78.2%, respectively. Recurrent disease was treated conservatively in 14 women, whereas 3 patients underwent radical surgery. Fifty-six (50.9%) patients got pregnant and had at least one live birth. A total of 83 children were born. A significant difference in the successful pregnancy rate was found in patients diagnosed ≤ 35 years vs. > 35 years old (55.6% vs. 9.1%, respectively; p = 0.003). Surgical approach (laparoscopy vs. laparotomy) did not influence the chance of childbirth. Pre-term delivery constituted 6.25% of all births., Conclusions: Fertility-sparing surgery should be proposed to young women wishing to preserve fertility. The rate of spontaneous pregnancy is approximately 50%.The risk of relapse is significant but always of borderline histology and may be successfully treated by the second surgery., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Detailed characteristics of the weight status of the population is necessary for the effective prevention of health disorders, e.g., through personalized nutrition education. This study aimed to characterize weight status and identify sociodemographic factors associated with overweight/obesity in a representative sample of adult inhabitants of Poland. This cross-sectional study was carried out from July 2019 to February 2020 on a representative nationwide sample of individuals aged 18+ in Poland. The study consisted of two parts: questionnaire survey and anthropometric measurements. The body mass index was calculated. Data on 1831 adults (50.3% females; mean age 51.7 ± 19.9 years) were included in this analysis. The prevalence of overweight was 42.2% (52.4% among males and 32.0% among females). Of the 1831 participants, 16.4% were obese (16.5% of males and 16.2% of females). Out of 11 factors analyzed in this study, only 5 were significantly associated with overweight/obesity. Males, older participants, occupationally active individuals, those living in rural areas and individuals with at least one chronic disease had greater odds of overweight/obesity. This study demonstrated a high prevalence of overweight and obesity among adults in Poland. This is the most up-to-date representative study on nutritional status carried out before the COVID-19 pandemic.

Background: The elderly are at greater risk of underweight and the associated risk of protein and energy malnutrition. On the other hand, the lower energy requirement with an often too high intake from the diet leads to the development of overweight and obesity., Objective: The aim of the study was to assess the prevalence of underweight, overweight and obesity, including abdominal obesity in Polish elderly., Material and Methods: The study included 300 men and 304 women aged 65 and over from all over the country. The nutritional status was assessed on the basis of anthropometric measurements: body height and weight as well as waist and hip circumferences. Based on BMI (Body Mass Index), the prevalence of underweight (<20.0), overweight (25.0-29.9) and obesity (≥30.0) was assessed. WHR (Waist-to-Hip Ratio) was used to assess abdominal obesity (≥1.0 in men and ≥0.85 in women). Waist circumference was also analysed with regard to increased risk of metabolic complications (≥94 cm in men and ≥80 cm in women)., Results: Underweight was found in 1.3% of men and 4.3% of women. 55.3% of men and 40.1% of women were overweight, 20.3% and 21.7% were obese, respectively. In the case of people with excess body weight, abdominal obesity was observed in 50% of men and 70.1% of women. Waist circumference indicating an increased risk of metabolic complications was found in 44.1% of men and 67.5% of women., Conclusions: The prevalence of overweight and obesity in Polish elderly was high, especially in men. Overweight and obese people often had abdominal obesity. This type of obesity was more common in women. Elderly people, especially women, often have an increased risk of metabolic complications due to high fat accumulation in the abdomen. It was even found in elderly who were not overweight nor obese. Some elderly, mostly women, were underweight which increased the risk of protein and energy malnutrition., Competing Interests: The authors declare no conflict of interest., (© Copyright by the National Institute of Public Health NIH - National Research Institute.)

Glutathione plays a key role in maintaining a physiological balance between prooxidants and antioxidants in the human body. Therefore, we examined the influence of maternal smoking as a source of oxidative stress measured by total oxidant capacity (TOC) on reduced glutathione (GSH), oxidized glutathione (GSSG), glutathione peroxidase (GPx-3), and reductase (GR) amount in maternal and umbilical cord blood in 110 (45 smoking and 65 non-smoking) mother-newborn pairs. Concentrations of glutathione status markers and TOC were evaluated by competitive inhibition enzyme immunoassay technique. Plasma TOC levels were significantly higher and the GSH/GSSG ratio, which is considered an index of the cell's redox status, were significantly lower in smoking women and their offspring than in non-smoking pairs. Decreased GR levels were found in smoking mothers and their newborns compared with similar non-smoking groups. Although plasma GPx-3 concentrations were similar in both maternal groups, in the cord blood of newborns exposed to tobacco smoke in utero they were reduced compared with the levels observed in children of tobacco abstinent mothers. Oxidative stress generated by tobacco smoke impairs glutathione homeostasis in both the mother and the newborn. The severity of oxidative processes in the mother co-existing with the reduced potential of antioxidant systems may have a negative effect on the oxidative-antioxidant balance in the newborn.

Introduction: In recent years, there has been a great interest in food supplements. However the use of food supplements can be associated with the risk of excessive intake of vitamins or minerals which may have adverse health effects. Objective: Assessment of food supplement consumption in the adult population in Poland. Materials and Methods: The study was conducted on 1,831 adults (913 men, 918 women) from which 178 (59 men, 119 women) food supplement users were selected. The consumption of food supplements were assessed by the 24-h recall repeated two times and the food propensity questionnaire (FPQ). Results: 10% of the subjects consumed food supplements during the 12 months prior to the study (6% of men, 13% of women) and among users 68% (79% of men and 88% of women) in the day before the survey. Most respondents (44%) used vitamin supplements during the year. More men than women (27 vs. 11%, p = 0.0059) used mineral supplements while more women than men used vitamin and mineral supplements (31 vs. 8%, p = 0.0008). The most frequently supplemented vitamins were: B 6 (58%), C (53%), and D (47%) and minerals were: magnesium (43%), zinc (34%), and iron (29%). More women than men supplemented vitamin B6 (71 vs. 40%, p = 0.0012), vitamin D (54 vs. 36%, p = 0.0061) and magnesium (49 vs. 34%, p = 0.0075). Intake of riboflavin, pantothenic acid and manganese were higher in the group of men (respectively: 3.3 mg ± 6.0 vs. 1.4 mg ± 0.3, p = 0.0329; 9.4 mg ± 5.6 vs. 6.1 mg ± 2.0, p = 0.0357; 2.2 mg ± 0.9 vs. 1.3 mg ± 0.6, p = 0.0080) but intake of vitamin D was higher in the group of women (15.7 μg ± 20.4 vs. 33.1 μg ± 26.4, p = 0.0085). In many cases, the intake of vitamins and minerals from food supplements covered the Dietary Reference Values for these nutrients in 100%. In some persons the intake of biotin, vitamin B 12 , C, B 6 , riboflavin, niacin was higher than the reference values several dozen times. The intake of vitamins and minerals exceed UL in a few cases relating to vitamin B 6 and magnesium. Conclusions: A minority of adults in Poland used food supplements. However, those products were a significant source of vitamins and minerals. Intake of vitamins and minerals from food supplements should be monitored., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Stoś, Woźniak, Rychlik, Ziółkowska, Głowala and Ołtarzewski.)

Myokines are cytokines secreted by muscle and exert autocrine, paracrine, or endocrine effects. Myokines mediate communication between muscle and other organs, including adipose tissue. The aim of the study was to assess serum myokines and their relationships with adipokines and anthropometric and nutritional parameters in children following vegetarian and omnivorous diets. One hundred and five prepubertal children were examined. Among them there were 55 children on a vegetarian diet and 50 children on an omnivorous diet. Concentrations of myokines (myostatin, irisin) and adipokines (leptin, adiponectin, omentin, visfatin) in serum were determined by enzyme-linked immunosorbent assay (ELISA). We observed comparable median values of serum myokines and adipokines (except of leptin concentration) in both of the studied groups of children. We also found several correlations between myokine and adipokine levels and certain nutritional parameters. Serum myostatin was positively correlated with omentin levels in vegetarians and omnivores ( p = 0.002). Serum irisin was positively associated with omentin ( p = 0.045) levels in omnivores and inversely with visfatin concentration ( p = 0.037) in vegetarians. Myostatin concentration was negatively correlated with the percentage of energy from protein ( p = 0.014), calcium ( p = 0.046), and vitamin A ( p = 0.028) intakes in vegetarians and with dietary vitamin C ( p = 0.041) and vitamin E ( p = 0.021) intakes in omnivores. In multivariate regression analyses, positive correlations of serum myostatin with omentin levels were revealed in both study groups (β = 0.437, p < 0.001 for vegetarians; and β = 0.359, p = 0.001 for omnivores). Consuming a lacto-ovo-vegetarian diet did not influence serum levels of myokines (myostatin, irisin) and adipokines such as adiponectin, visfatin, and omentin in prepubertal children. However, leptin levels were significantly lower in vegetarians compared with omnivores. The observed significant positive correlations between myostatin and omentin concentrations might suggest tissue cross-talk between skeletal muscle and fat tissue. Further studies, carried out in a larger group of children following different dietary patterns, could be important to fully understand the relations between muscle, adipose tissues, and nutrition.

Background: About 7 million people in Poland receive pensions. The amount of benefits paid to pensioners is reflected in the income at their households and expenses, including food expenses., Objective: The aim of the study was to evaluate the dietary patterns of Polish seniors in the retirees` households on the basis of an analysis of food consumption and energy and nutrient intake., Material and Method: Food consumption evaluation was based on household budget survey conducted by Statistics Poland in 2019 throughout the whole country. Energy and nutrient intake were calculated using the conversion factors., Results: The consumption of unprocessed red meat in retirees' households was 1.83 kg/person/month, meat products - 2.90 kg and kitchen salt - 0.24 kg. 6.52 kg of vegetables and 5.99 kg of fruit were consumed per person per month. The mean energy intake in members of these households was 2387 kcal/day. The proportion of energy from fat was high - 36.6%. 14.2% of energy was derived from protein and 49.6% from digestible carbohydrates. The share of animal fat (55.0 g) was higher than vegetable fat (43.7 g). It was associated with a high percentage of energy from saturated fatty acids - 13.4%. The content of polyunsaturated fatty acids was less than half of the saturated fatty acids. Calcium and vitamin D intake was low (658 mg and 3.8 μg respectively)., Conclusions: Red meat, processed meat and salt consumption by seniors was too high in relation to the nutritional recommendations. Vegetables and fruit were consumed in amounts that are recommended. Seniors diet was improperly balanced, e.g. due to the high percentage of energy from fat, including saturated fatty acids. However, the intake of polyunsaturated fatty acids was low. Calcium and vitamin D intake was lower than Reference Intakes., Competing Interests: The authors declare no conflict of interest, (© Copyright by the National Institute of Public Health NIH - National Research Institute.)

In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency diseases (PID), mainly severe combined immunodeficiency (SCID), was initiated. SCID, but also some other severe PID, is a group of disorders characterized by the absence of T and/or B and NK cells. Affected infants are susceptible to life-threatening infections, but early detection gives a chance for effective treatment. The prevalence of SCID in the Polish and German populations is unknown but can be comparable to other countries (1:50,000-100,000). SCID NBS tests are based on real-time polymerase chain reaction (qPCR) and the measurement of a number of T cell receptor excision circles (TREC), kappa-deleting recombination excision circles (KREC), and beta-actin (ACTB) as a quality marker of DNA. This method can also be effective in NBS for other severe PID with T- and/or B-cell lymphopenia, including combined immunodeficiency (CID) or agammaglobulinemia. During the 14 months of collaboration, 44,287 newborns were screened according to the ImmunoIVD protocol. Within 65 positive samples, seven were classified to immediate recall and 58 requested a second sample. Examination of the 58 second samples resulted in recalling one newborn. Confirmatory tests included immunophenotyping of lymphocyte subsets with extension to TCR repertoire, lymphoproliferation tests, radiosensitivity tests, maternal engraftment assays, and molecular tests. Final diagnosis included: one case of T-B low NK+ SCID, one case of atypical T low B low NK+ CID, one case of autosomal recessive agammaglobulinemia, and one case of Nijmegen breakage syndrome. Among four other positive results, three infants presented with T- and/or B-cell lymphopenia due to either the mother's immunosuppression, prematurity, or unknown reasons, which resolved or almost normalized in the first months of life. One newborn was classified as truly false positive. The overall positive predictive value (PPV) for the diagnosis of severe PID was 50.0%. This is the first population screening study that allowed identification of newborns with T and/or B immunodeficiency in Central and Eastern Europe., (Copyright © 2020 Giżewska, Durda, Winter, Ostrowska, Ołtarzewski, Klein, Blankenstein, Romanowska, Krzywińska-Zdeb, Patalan, Bartkowiak, Szczerba, Seiberling, Birkenfeld, Nauck, von Bernuth, Meisel, Bernatowska, Walczak and Pac.)

Introduction: More than 2000 mutations have been identified since the discovery of the CFTR gene in 1989. However, only 346 mutations have been classified as cystic fibrosis (CF)-causing mutations. Due to the increasing number of mutations and poor correlation between the genotype and phenotype, there is an urgent need to determine the mutations that are pathogenic, nonpathogenic, or lead to variable symptoms., Aim: The aim of the study was to present the clinical characteristics of Polish patients with rare and novel CFTR mutations, with an attempt to determine the pathogenicity status of those variants., Materials and Methods: The group included 13 patients born between September 2006 and May 2019, who underwent CF newborn screening and in whom two CFTR mutations, including at least one rare or a novel mutation, were identified., Results: We identified 13 patients with mutations in both alleles of the CFTR gene, one of which was at least rare in Polish population (R289NfsX17, I618RfsX2, T682KfsX40, S1347PfsX13, W356X, E33X, dup.16,17A) or was a mutation of unknown clinical consequences (H199R, L468P, A1217E, Q359R, T1036I, W1282R). None of them were described in the CFTR2 database. In all examined patients, sweat tests were elevated. The diagnosed patients presented with a wide spectrum of clinical symptoms. Broad clinical characteristics and test results are presented., Conclusion: Pathogenic mutations are H199R, L468P, A1217E, Q359R, T1036I, W1282R, R289NfsX17, I618RfsX2, T682KfsX40, S1347PfsX13, W356X, E33X, dup.16,17A. Every patient with a mutation of unknown clinical consequences in one CFTR allele requires attentive follow-up., (© 2020 Wiley Periodicals LLC.)

The aim of the study was to determine the relationships between maternal smoking, total adiponectin, high molecular weight adiponectin (HMW adiponectin), selected somatomedins, and the birth weight of newborns. A total of 78 women with a healthy, singleton pregnancy, 41 active smokers and 37 non-smokers, and their offspring were studied. Total and HMW adiponectin, insulin-like growth factor I (IGF-I), and insulin-like growth factor binding protein-1 (IGFBP-1) and 2 (IGFBP-2) were determined in maternal and cord blood by enzyme-link immunosorbent assay. Serum levels of total and HMW adiponectin were lower in smokers compared to the tobacco abstinent in both the mothers ( p = 0.013; p = 0.006) and the infants ( p = 0.001; p = 0.047). In smoking women and their children, serum concentrations of IGF-I were significantly lower (p = 0.014; p = 0.042), IGFBP-1 significantly higher ( p = 0.009; p = 0.039), and IGFBP-2 did not differ from that observed in the non-smoking group. In multivariate analysis performed on the whole group of mothers, the highest impact of serum cotinine and IGFBP-2 levels were indicated for adiponectin and cotinine and the number of cigarettes/day for HMW adiponectin concentration. In correlation analysis estimated separately for smokers and non-smokers, neonatal birth weight was positively associated with total and HMW adiponectin concentrations in umbilical cord blood. Birth weight was also inversely associated with IGFBP-1 and positively correlated with IGF-I levels in maternal serum as well as in cord blood (r = -0.317, p = 0.005; r = -0.294, p = 0.004; r = 0.245, p = 0.031; r = 0.271, p = 0.009, respectively). The present study showed the levels of total and HMW adiponectin in umbilical cord blood may have a significant effect on fetal development. Both IGF-I and IGFBP-1 concentrations also play an essential role in fetal growth, which is an important predictor of birth weight. Cigarette smoking during pregnancy negatively affected adiponectin and the insulin growth factor profile in the serum of women and the cord blood and may be the reason for the lower birth weight of the smokers newborns compared with the nonsmokers offspring.

Background: Phenylketonuria (PKU) is a metabolic disease. It is manifested by a complete or partial inability to convert phenylalanine (Phe) to tyrosine and leads to increased concentrations of Phe in the blood and in other tissues, including the brain, causing irreversible neurological damage if left untreated. Low-phenylalanine diet is a key component of classical PKU therapy., Objectives: The objective of this study was to assess the effectiveness of classical phenylketonuria therapy and compliance with doctors' recommendations in the first 5 years of life., Material and Methods: Data was collected from all diagnosed and treated patients (n = 57) born 1999-2010. Phenylalanine blood levels, the number of visits to a specialist outpatients' center, the number of blood tests, as well as socioeconomic status (SES) and parents' education level have been analyzed, and potential relationships have been assessed., Results: In the 1st year of life patients visited their doctors (odds ratio (OR) = 6.8267; 95% confidence interval (95% CI) = 2.827-16.5163; p < 0.0001) and had their blood collected (OR = 2.7875; 95% CI = 1.0467-7.4234; p < 0.0402) significantly more frequently than in the 2nd year. This tendency persisted into subsequent years. Similarly, in infancy they had statistically significantly lower odds of exceeding more than 40% of their Phe levels over therapeutic range than 1 year later (OR = 3.6078; 95% CI = 1.4859-8.7599; p < 0.0046). No PKU child had more than 70% of Phe levels over the therapeutic range in the 1st year of life, whereas 4 years later there were 18 such children. Phe levels were correlated with the number of visits to a specialist (ρ = 0.39) and the number of Phe blood tests with index of dietary control (ρ = -0.33). The effectiveness of therapy and compliance with the doctor's recommendations seem to depend neither on the level of education of the patient's parents nor on their SES., Conclusions: Therapy effectiveness and patients' compliance in PKU is very good in infancy. However, both deteriorate in subsequent years. Moreover, they do not seem to depend on the family background.

Diseases related to DNA polymerase gamma dysfunction comprise of heterogeneous clinical presentations with variable severity and age of onset. Molecular screening for the common POLG variants: p.Ala467Thr, p.Trp748Ser, p.Gly848Ser, and p.Tre251Ile has been conducted in a large population cohort (n = 3123) and in a clinically heterogeneous group of 1289 patients. Recessive pathogenic variants, including six novel ones were revealed in 22/26 patients. Infantile Alpers-Huttenlocher syndrome and adulthood ataxia spectrum were the most common found in our group. Distinct molecular profile identified in the Polish patients with significant predominance of p.Trp748Ser variant (50% of mutant alleles) reflected strikingly low population frequency of the three remaining variants and slightly higher p.Trp748Ser allele frequency in the general Polish population as compared to the non-Finish European population., (Copyright © 2018 Elsevier B.V. and Mitochondria Research Society. All rights reserved.)

The aim of this study was to assess the influence of active tobacco smoke exposure in utero on the concentration of hepcidin and selected iron markers in umbilical cord blood and to evaluate the relationships between these parameters. Newborns of smoking mothers had significantly lower concentrations of serum hepcidin ( p < 0.001), iron, and ferritin ( p = 0.043; p = 0.042, respectively), but higher levels of erythropoietin (EPO, p < 0.001) and soluble transferrin receptor (sTfR, p = 0.011) compared with newborns of non-smoking women. Negative correlations between cotinine and the number of cigarettes smoked per day with hepcidin serum level (r = -0.33, p = 0.033, r = -0.32, p = 0.041, respectively) and EPO (r = 0.47, p = 0.002; r = 0.46, p = 0.003, respectively) were found. Univariate analysis defined for the whole group of children revealed significant associations between the concentration of hepcidin and other iron status parameters. In the models estimated separately for smokers and non-smokers, we found relations between the level of hepcidin and erythropoietin (B = -0.23, p = 0.004; B = -0.46, p = 0.01, respectively). In the multivariate regression model, a negative association between hepcidin and EPO concentrations in the whole group of newborns (β = -0.53; p = 0.001) and in the group of smokers (β = -0.57; p = 0.011) was confirmed. The present study shows significant relations between smoking during pregnancy and hepcidin levels in children born at term. Decreased cord serum concentrations of hepcidin associated with high erythropoietin levels suggest induced fetal erythropoiesis, probably due to the hypoxic effects imposed by maternal smoking.

The urea cycle disorder carbamoyl phosphate synthetase I deficiency is an important differential diagnosis in the encephalopathic neonate. This intoxication type inborn error of metabolism often leads to neonatal death or severe and irreversible damage of the central nervous system, even despite appropriate treatment. Timely diagnosis is crucial, but can be difficult on routine metabolite level. Here, we report ten neonates from eight families (finally) diagnosed with CPS1 deficiency at three tertiary metabolic centres. In seven of them the laboratory findings were dominated by significantly elevated urinary 3-methylglutaconic acid levels which complicated the diagnostic process. Our findings are both important for the differential diagnosis of patients with urea cycle disorders and also broaden the differential diagnosis of hyperammonemia associated with 3-methylglutaconic aciduria, which was earlier only reported in TMEM70 and SERAC1 defect., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Obesity in children causes metabolic and structural changes in blood vessels which lead to the development of cardiovascular diseases and type 2 diabetes., Aim: The aim of the study was to assess the risk factors for atherosclerosis in obese children studied in the One-Day Hospitalization Department of the Institute of Mother and Child., Material and Methods: The study included 75 children aged 6-12 years (36 boys, 39 girls) with aBMI>97th percentile. The control group consisted of 36 children aged 5-10 years (18 boys, 18 girls) with a BMI of 75-90. Analysis was conducted of family history regarding obesity, CVD, dyslipidemia. The children's examination consisted of: BMI, waist circumference, cholesterol, LDL, HDL, triglycerides, and insulin. Both groups had their IMT (left and right) examined with ultrasound., Results: In the study group 82.6% of the obese children had a positive family history of obesity and 72% of CVD and dyslipidemia. Regarding the children from the control group, 34.2% had a family history of obesity and 36.8 of CVD and dyslipidemia. The mean waist circumference in the obese children was 72.7 cm, while in the control group it was 59.9 (<0.001). The mean levels of lipids were higher in obese children (<0.001). The insulin level was almost twice as high as in the control group (±8.47 SD; <0.003). The mean IMT in obese patients was 0.36 mm; ±0.059 SD (right side) and 0.37 mm; ±0.033 SD (left side), while in the control group it was 0.32 mm; ±0.087 SD (right side) and 0.32 mm, ±0.082 SD (left side). The differences between the two groups were statistically significant. A positive correlation between waist circumference and insulin level was found (<0.003)., Conclusions: Obesity and dyslipidemia are more common among children with familial obesity and CVD. Dyslipidemia is statistically more widespread among obese children. IMT is significantly higher in obese children compared with the control group, suggesting that changes in the structure of carotid atherosclerosis may occur in obese children in early childhood. This can be diagnosed using the noninvasive IMT method measured with ultrasound. Children with obesity, especially visceral, have higher levels of insulin, which may contribute to insulin resistance. Parents lack sufficient knowledge about the effects of childhood obesity and its effects on atherosclerosis and cardiovascular diseases., Results: In the study group 82.6% of the obese children had a positive family history of obesity and 72% of CVD and dyslipidemia. Regarding the children from the control group, 34.2% had a family history of obesity and 36.8 of CVD and dyslipidemia. The mean waist circumference in the obese children was 72.7 cm, while in the control group it was 59.9 (<0.001). The mean levels of lipids were higher in obese children (<0.003)., Conclusions: Obesity and dyslipidemia are more common among children with familial obesity and CVD. Dyslipidemia is statistically more widespread among obese children. IMT is significantly higher in obese children compared with the control group, suggesting that changes in the structure of carotid atherosclerosis may occur in obese children in early childhood. This can be diagnosed using the noninvasive IMT method measured with ultrasound. Children with obesity, especially visceral, have higher levels of insulin, which may contribute to insulin resistance. Parents lack sufficient knowledge about the effects of childhood obesity and its effects on atherosclerosis and cardiovascular diseases.

To estimate the effect of tobacco smoking on iron homeostasis and the possible association between hepcidin and the neonatal birth weight and length, concentrations of serum hepcidin and selected iron markers were measured in 81 healthy pregnant women (41 smokers and 40 nonsmokers). The smoking mothers had significantly lower concentrations of serum hepcidin (p < 0.001), iron (p < 0.001), and hemoglobin (p < 0.05), but higher erythropoietin (p < 0.05) levels compared with non-smoking pregnant women. Logistic regression analysis showed the highest negative impact of the number of cigarettes smoked per day (β = -0.46; p < 0.01) and positive impact of ferritin level (β = 0.47; p < 0.001) on serum hepcidin concentration. The birth weight and the body length of smoking mothers' infants were significantly lower than in tobacco abstinent group (p < 0.001). In multiple regression analysis, birth body weight (β = 0.56; p < 0.001) and length (β = 0.50; p < 0.001) were significantly related to maternal hepcidin values. Tobacco smoking affected hepcidin level in serum of pregnant women in a dose-dependent manner. Low concentrations of iron and hemoglobin in maternal serum coexisting with high level of erythropoietin suggest that smoking could lead to subclinical iron deficiency and chronic hypoxia not only in mothers but also in fetus. Low serum hepcidin concentration in smoking pregnant women might be associated with lower fetal birth weight and length.

Proper treatment of congenital hypothyroidism warrants normal intellectual and physical development. This paper introduces the principles of treatment of congenital hypothyroidism, the recommended levothyroxine dosage, and the aims of therapy with its justification. The principles of treatment, specialist care of the patient, and methods used to evaluate therapeutic effects are described. Based on these data, recommendations concerning treatment and its monitoring in patients with congenital hypothyroidism are formulated. The paper also highlights the importance of educating the patients and/or their caretakers as one of the basic components of an effective therapy. The interpretation of screening tests in preterm neonates is provided as well. In the current screening program in preterm children TSH was determined between days three and five of life and then after three weeks. During this time TSH values are frequently low because of the immaturity of the hypothalamic-pituitary axis. Due to the increased risk of primary and secondary hypothyroidism in preterm and low birth weight babies the determination of TSH and fT4 between days three and five of life is recommended, irrespective of the screening test. (Endokrynol Pol 2016; 67 (5): 536-547).

Introduction: Pregnant women require about 250 μg of iodine daily. Hypothyroid women treated with L-thyroxine do not utilise iodine, and metabolism of L-thyroxine tablets is an additional source of iodine for their foetuses. The aim of the study was to evaluate the influence of iodine supplementation in hypothyroid pregnant women treated with L-thyroxine on neonate TSH concentration and maternal thyroid parameters., Material and Methods: Ninety-two pregnant women with primary hypothyroidism on adequate thyroid hormone replacement were voluntarily divided into two groups: "thyroxine" (n = 38) treated with L-thyroxine only, and "thyroxine + iodine" (n = 54) treated additionally with 150 μg/day of iodine since 10th gestational week. Primary outcomes were the maternal thyroid function tests (TSH, fT4, fT3) and neonatal TSH concentrations at the 3-4th day of life. Urinary iodine concentration was measured at first and third trimester to compare iodine status in both groups., Results: Iodine supplementation significantly increased median urinary ioduria in the third trimester (from 95.15 μg/L to 151.50 μg/L), but did not prevent the decrease of maternal fT4 and fT3 concentrations in the second and third trimester. Median neonate TSH concentration in both groups was within normal range, but was 33% higher in the "thyroxine + iodine" than in the "thyroxine" group (1.91 mU/L vs. 1.34 mU/L). Moreover, 8.77% of newborns in the "thyroxine + iodine" group had TSH &gt; 5 mIU/L., Conclusions: We did not find evidence for a positive influence of iodine supplementation on thyroid function of either hypothyroid pregnant women sufficiently treated with L-thyroxine or their neonates. (Endokrynol Pol 2016; 67 (4): 367-374).

Unlabelled: One of the important factors affecting bone health is body weight. Underweight children are predisposed to disturbances in bone metabolism, which may result in osteopenia and osteoporosis in later life., Aim: The aim of the study was to assess the relationship between adipokines, bone metabolism, and anthropometric parameters in underweight prepubertal children., Materials and Methods: The study included 60 children aged 5-10 years. Among them, there were: 30 underweight children (BMI z-score ≤-1) and 30 normal-weight children (BMI z-score <-1 + 1 >). Body composition (fat mass, lean body mass, bone mass) and bone mineral density examination were performed by densitometry. Serum concentrations of bone metabolism markers and adipokines were determined by immunoenzymatic methods., Results: In underweight children we observed significantly lower fat mass (p<0.0001), lean mass (p<0.001), bone mineral content (p<0.01) and bone mineral density both the total body (p<0.01) as well as lumbar spine L2-L4 (p<0.05) compared with normal-weight children. In the group of underweight children, serum concentration of bone resorption marker (CTX) was significantly higher than in normal-weight children (2.006±0.649 vs. 1.624±0.492 ng/ml, p<0.05), with no differences in the concentrations of osteocalcin and sclerostin between studied groups. The ratio of adipokines (leptin/adiponectin) was approximately 2-fold lower in underweight than in normal-weight subjects. In underweight children we observed positive correlations between concentrations of sclerostin and bone turnover markers (OC, CTX) and between adiponectin and CTX. However, there was no correlation between fat mass and leptin concentration in this group of children., Conclusions: Low body weight in prepubertal period is related with an alteration in the adipokines profile and bone metabolism markers, resulting in a decrease in bone mineral density., (© 2015 MEDPRESS.)

Unlabelled: Early diagnosis of cystic fibrosis (CF) made by the introduction of CF NBS (Cystic Fibrosis Newborn Screening) provides the opportunity to undertake preventive measures and provide treatment before the development of irreversible changes in the respiratory tract and other complications. CF NBS was conducted as a pilot programme in four Polish districts in the period 1999-2003. In 2006 CF NBS started again and was gradually extended across the country. The aim of this study was to show the evolution of the Polish CF NBS strategies and assess the diagnostic consequences of this programme., Material and Methods: The study involved children diagnosed and treated only in the IMiD Centre. The strategy in Polish CF NBS was modified over time. Firstly, the model IRT/IRT and IRT/IRT/DNA with one mutation was implemented, which was followed by IRT/DNA with a gradually expanding number of CFTR mutations (tab. I). Newborns with positive results of CF NBS were called to the CF IMiD Centre, and sweat tests were performed. The children diagnosed and children with mutations in both alleles of the CFTR gene even if at least one of them had undefined pathogenicity) were taken under IMiD Centre care. Sensitivity, specificity and positive predictive values during subsequent stages of CF NBS were calculated (tab. III)., Results: During the 1999-2003 pilot study 444 063 newborns underwent CF NBS and in 74 cases CF was diagnosed. 582 693 newborns were screened from September 2006 to December 2011 in four regions and 100 children were diagnosed with CF. The frequencies of CF in the Polish population in both screening periods were 1:5767 and 1:5712 respectively. Firstly, the IRT/IRT model was implemented, but the number of newborns called to the CF Centre was high - the PPV was 7.6%. In the next step CF NBS DNA analysis was used. Here sensitivity and specificity were high - nearly 100%. In the following years the number of mutations detected was expanded (including 16 most common ones in the Polish population). Due to the panel changes, the number of calls declined and the PPV (predictive positive value) improved (to 26.1%) after the application of expanded genetic analysis. Expanding the panel of mutations resulted in an increased number of carriers and observational subjects., Conclusions: IRT/DNA strategy with expanded DNA analysis provides the opportunity for earlier CF diagnosis even in children with normal sweat test values. However, this model caused frequent carrier detection and inconclusive diagnosis in comparison to IRT/IRT or IRT/IRT/DNA with a limited number of mutations. Further research and changes in Polish CF NBS are needed to increase the PPV, while preserving high sensitivity and specificity..

Anemia during pregnancy is a risk factor of disturbance in pre- and postnatal child's development. Hepcidin plays the key role in iron metabolism, as protein participating in the regulation of intestinal absorption of this element and its release from macrophages, and transport across the placenta. Maternal smoking during pregnancy can result in disturbances of iron homeostasis leading to a subclinical deficiency. The depletion of maternal iron can cause fetal hypoxia condition and decreased expression of hepcidin. The aim of the study was to evaluate the effect of smoking on the levels of hepcidin and erythropoietin (as an indicator of hypoxia) and their relationships in umbilical cord blood. The research material was the umbilical cord blood of 50 newborns born in the Department of Obstetrics and Gynecology (Institute of Mother and Child in Warsaw) in the years 2013-2014. Based on an interview and determination of cotinine in the blood of mothers, newborns were divided into following groups: children of smoking mothers (n=20) and children of tobacco abstinent mothers (n=30). Hepcidin and erythropoietin concentrations were determined by enzyme immunoassay using commercial kits (DRG, Germany). It has been shown that hepcidin concentrations were significantly lower in children of smoking mothers than in the group of tobacco abstinent (37.5 ng/mL vs 45.1 ng/mL, p<0.001). However, the level of erythropoietin was higher in children of smoking mothers than in children of non-smoking women (p<0.001). A negative correlation between the levels of hepcidin and erythropoietin (r = -0.41, p<0.05) and number of smoked cigarettes (r = -0.43, p<0.05) was observed. These results indicate that smoking during pregnancy significantly affects hepcidin levels in children born at term. Decrease of hepcidin concentration coexisting with high level of erythropoletin in umbilical cord blood in children of smoking pregnant women may be the cause of subclinical deficiency of iron in the newborn.

Introduction: To evaluate the usefulness of measuring maternal anti-TSH receptor antibodies (TRAbs) and foetal ultrasound (US) monitoring in cases of current or past maternal hyperthyroidism., Material and Methods: 77 pregnant women suffering from hyperthyroidism or with a history of Graves' hyperthyroidism were observed prospectively. Maternal serum TSH, fT4, fT3, TRAbs, and foetal US were performed at baseline and repeated every 2-4 weeks when needed. Neonatal thyroid status was assessed based on serum TSH, fT4 and fT3 obtained in the first days of life., Results: 35 women were diagnosed with gestational hyperthyroidism and 42 with Graves' disease; among them 26 had current and 16 past hyperthyroidism. Foetal and neonatal thyroid dysfunction occurred only in cases of maternal Graves' disease: nine (21%) and three (7%), respectively. Active maternal Graves' hyperthyroidism and TRAbs elevated at least five times above the upper normal limit predisposed to foetal hyperthyroidism. Maternal anti-thyroid drug therapy (ATD) and low TRAbs and fT4 were the risk factors of foetal hypothyroidism. Abnormal foetal thyroid sonogram was the only sign of foetal thyroid dysfunction. Four patients (9.5%) had high TRAbs in the 3rd trimester (10.8-29.9 IU/mL), but neither foetal nor neonatal thyroid dysfunctions were noted., Conclusions: In the cases of maternal Graves' disease, foetal thyroid dysfunction occurs more often than commonly assumed. Foetal thyroid US is a valuable tool in early diagnosis and monitoring of the foetal thyroid status in pregnancy complicated by maternal Graves' disease. The evaluation of biological activity of maternal TRAbs may be helpful in prenatal diagnosis in some cases.

We examined the effect of tobacco smoking on the concentrations of leptin, soluble leptin receptor (sOB-R), total adiponectin, and free leptin index (FLI) in the serum of maternal-cord pairs. We also investigated the correlations between these biochemical parameters and newborn birth weight and length. The study included eighty-five healthy pregnant women, who were divided into smoking and tobacco- abstinent groups according to serum cotinine concentrations. We found that maternal and fetal leptin, sOB-R concentrations, and free leptin index were similar in smoking and tobacco abstinent groups. We observed significant negative relationship between the reported number of cigarettes smoked daily during pregnancy and cord blood leptin (r=-0.37; p<0.05). In the group of smoking women, total serum adiponectin concentrations were significantly lower than in the tobacco abstinent group in mothers as well as in cord blood (p<0.05). A significant negative association between the number of cigarettes smoked per day and total adiponectin concentration in maternal as well as newborn serum was observed (r=-0.38; p<0.05). Umbilical serum leptin, sOB-R, and FLI levels were significantly lower and adiponectin higher compared with maternal concentrations at birth (p<0.05). Mean birth weight and body length of the smoking mothers' infants were significantly lower (p<0.001; p=0.015, respectively) compared with the abstinent group, and negatively correlated with the daily number of cigarettes consumed (birth weight r=-0.39; p<0.05; birth length r=-0.37; p<0.05). Cord blood values of leptin, FLI and adiponectin were significantly correlated with newborn birth weight. We also observed a positive relationship between cord blood adiponectin levels and the birth body length in the two studied groups (r=0.49; p<0.002). Tobacco smoking during pregnancy decreases maternal and fetal serum adiponectin levels but does not have a significant effect on blood leptin concentrations. The direct association between the cord blood values of these adipokines and birth weight and length suggest that rather fetal (not maternal) adiponectin and leptin concentrations may be involved in fetal development during pregnancy.

Unlabelled: Iodine deficiency and thyroid gland disorders are especially harmful for pregnant women and normal fetal development. After initiation in 1997 of obligatory iodine prophylaxis, Poland has been found since 2003 a country with sufficient delivery of this microelement. However, in the population of pregnant women, slight deficiency of this element still exists. Insufficient iodine supply results in abnormalities of thyroid hormones'biosynthesis. Simultaneously, adaptive changes, occurring in pregnancy, make the proper interpretation of hormone's assays difficult. Lack of normative data for the thyroid hormones concentration in the each pregnancy trimester for Polish population cause additional difficulties in the interpretation of these results. The aim of the study was prospective observation of iodine intake and thyroid function in healthy pregnant women supplemented with 150 pg of iodine daily, Materials and Methods: 62 healthy pregnant women living in Warsaw in the early weeks of pregnancy, confirmed by ultrasonographic examination, were included to this study. Pregnancies were singleton resulting in birth of healthy neonates. Urinary iodine concentrations (UIC), serum TSH, fT4, fT3, antyTPO, thyroid volume and morphology by the ultrasonography examination were assessed in consecutive trimesters of pregnancy. TSH level was measured in the each newborn., Results: Low urinary iodine concentrations (UIC)-median 96 microg/l was found at the beginning of pregnancy Only in 14% of pregnant women UIC exceeded 150 microg/l. In spite of intended supplementation of at least 150 microg of extra iodine per day, medians of UIC in the next trimesters were 122 microg/l and 129 microg/l, respectively. TSH levels kept reference values for the 1st trimester of pregnancy in 86% of participants and in the next trimesters in 85% and 95%, respectively. Levels of fT4 were within reference range for the women in the 1st trimester. In 2nd trimester 12% and in 3rd trimester 33% of pregnant women had fT4 level below the reference value. Concentrations of fT3 were within reference values during whole pregnancy. Median thyroid volume was respectively 11.12 ml; 13.0 ml and 15.75 ml (range: 6.8-26.8 ml) in subsequent trimesters.Median neonatal' TSH level on the 3rd day of life, as a screening of thyroid insufficiency, was 1.34 mlU/l (range: 0.01-6.6 mlU/l) and in 4.41 % of newborns TSH concentrations were higher than 5 mlU/I., Conclusion: Despite the sufficient supply of iodine in the whole population, iodine consumption among the pregnant women is still not satisfactory. The increase of TSH values above the upper reference level for pregnant women in 15% of patients may be related to iodine deficiency. It is important to educate pregnancy planning women about this problem. Our observations confirm the importance of the recommendations that during the pregnancy every woman should receive supplementation of iodine at the minimal amount of 150 microg daily.

Newborn screening for cystic fibrosis (NBS CF) in Poland was started in September 2006. Summary from 4 years' experience is presented in this study. The immunoreactive trypsin/DNA sequencing strategy was implemented. The group of 1,212,487 newborns were screened for cystic fibrosis during the programme. We identified a total of 221 CF cases during this period, including, 4 CF cases were reported to be omitted by NBS CF. Disease incidence in Poland based on the programme results was estimated as 1/4394 and carrier frequency as 1/33. The frequency of the F508del was similar (62%) to population data previously reported. This strategy allowed us to identify 29 affected infants with rare genotypes. The frequency of some mutations (eg, 2184insA, K710X) was assessed in Poland for the first time. Thus, sequencing assay seems to be accurate method for screening programme using blood spots in the Polish population.

The objective of this study was to evaluate the effect of cigarette smoking on concentration of selected angiogenic factors (vascular endothelial growth factor VEGF, placenta growth factor PIGF) and somatomedin C (insulin-like growth factor-I) in blood of mothers and umbilical cord blood. The correlations between studied biochemical parameters and markers of estimated intensity of cigarette smoking as well as birth weight were also determined. Fifty healthy pregnant women were divided into two groups: smoking and tobacco abstinent group according to serum cotinine concentration. The current smokers were defined as those who had smoked 5 cigarettes per day for 2 years before conception and continued smoking during pregnancy. In the group of smoking mothers the mean serum concentration of cotinine was 91.6 microg/L and correlated positively with number of cigarettes daily consumed (r = 0.58, p < 0.01) as well as with time of smoking before conception (r = 0.40, p < 0.05). The mean serum concentration of PIGF in III trimester of pregnancy was significantly higher in the group of smokers than in non-smoking ones (p < 0.0001) and correlated with serum cotinine concentration (r = 0.41, p < 0.05) and number of cigarettes daily consumed (r = 0.58, p < 0.01). The concentration of serum VEGF was similar in both studied group. The mean serum level of IGF-I was significantly lower in group of smokers than in non-smokers in the I and III trimester of gestation (p < 0.01). Also in umbilical cord blood of smoking newborn the concentration of IGF-I was lower by 20% than in nonsmoking group (p < 0.05). We observed negative correlation between number of cigarettes daily consumed and serum level of IGF-I in blood of mothers as well as in blood of their children (I trimester: r = -0.43, p < 0.05; III trimester: r = -0.70, p < 0.001; umbilical cord blood: r = -0.45, p < 0.05). In both studied groups there were a positive correlation between birth weight and concentrations of IGF-I in blood of mothers and umbilical cord blood (group of smokers: mothers r = 0.43, p < 0.05, cord blood r = 0.50, p < 0.01; group of tobacco abstinent: mothers r = 0.51, p < 0.01, cord blood r = 0.41, p < 0.05). The birth weight of the smoking mothers' infants was lower by about 400 g (p < 0.01) and their birth body length by 1.5 cm (p < 0.05) and negatively correlated with number of cigarettes smoked per day (r = -0.55; p < 0.005). Our results indicate, that tobacco smoking during pregnancy increased serum PIGF levels in the final stages of gestation and has no effect on the concentration of VEGF, which may lead to an increase of trophoblast proliferation and uteroplacental dysfunction. Lower than in tobacco abstinent levels of IGF-I in serum of smoking mothers and in umbilical cord blood and their close relationship with birth weight, may suggests a direct effect of this factor on birth anthropometric parameters.

Introduction: Of interest is if factors like maternal diet can influence the risk of hypospadias-affected pregnancy. Increased propionylcarnitine (C3) is regarded as a biomarker of vitamin B12 deficiency. The retrospective study was undertaken to determine whether increased propionylcarnitine and low methionine in newborns are associated with hypospadias., Material and Methods: 41 newborns with hypospadias and 90 control newborns without congenital anomalies were investigated. Whole blood propionylcarnitine and methionine concentrations were measured using tandem mass spectrometry., Results: The mean concentration of propionylcarnitine was higher in newborns with hypospadias compared with newborns without congenital anomalies (p = 0.026). The mean methionine level in cases was insignificantly lower than in controls., Conclusion: There appears to be an association between decreased vitamin B12, as indexed by an increase of propionylcarnitine, and hypospadias in the investigated group of patients.

Aim: The aim of this study was to assess bone formation and resorption processes and bone metabolism regulators, such as osteoprotegerin and fetuin-A in children with cystic fibrosis., Material and Methods: We examined 45 children with cystic fibrosis aged 5-13 years treated at the Institute of Mother and Child in Warsaw. The control group consisted of 35 healthy children in the same synage range without any diseases which may influence bone metabolism. We determined serum calcium and phosphate levels by colorimetric methods, vitamin D3 by the chemiluminiscence method and bone metabolism markers (osteocalcin, 5b isoenzyme of tartrate-resistant acid phosphatase, osteoprotegerin, fetuin-A) by immunoenzymatic methods., Results: Mean serum concentrations of calcium and phosphate in the studied children were within the reference ranges. However, the level of 25-hydroxyvitamin D3 was significantly lower in patients with cystic fibrosis compared to the controls (19.3±7.6 vs 25.2±8.9 ng/ml, p<0.01). In cystic fibrosis children we observed a statistically significant lower concentration of osteocalcin (81.9±28.9 vs 97.9±28.6 ng/ ml, p<0.01) and similar activity of 5b isoenzyme of tartrate-resistant acid phosphatase (12.5±2.9 vs 13.4±3.5 U/L) as compared to healthy peers. Mean serum concentration of osteoprotegerin in patients with CF was significantly lower than in the control children (4.1±0.98 vs 4.59±0.86 pmol/l, p<0.05). Serum concentration of fetuin-A was comparable in both groups of children., Conclusions: In children with cystic fibrosis changes in the profile of bone metabolism markers were observed. Even patients with CF who are clinically stable and supplemented with vitamins are at risk of osteopenia and osteoporosis in their later life. Therefore, they should be under a comprehensive medical and nutritional care in order to achieve their optimal peak bone mass.

Unlabelled: THE AIM of our study was to investigate associations between serum adipocytokines status and anthropometric parameters as well as total energy and macronutrient intake in vegetarian, normal-weight omnivorous and obese omnivorous children., Material and Methods: We examined 90 healthy prepubertal children aged 4-10 years who had been referred to the Department of Nutrition at the Institute of Mother and Child in Warsaw for dietary consultation. Patients with endocrine disorders or genetic syndromes, as well as those who were taking medications that could affect growth, pubertal development or nutritional status were excluded. Children were divided into groups: vegetarians (n=30), normal-weight omnivores (n=30) and obese omnivores (n=30). Anthropometric measurement (weight, height) was performed in all children and body mass index (BMI) was calculated. A whole body dual-energy X-ray absorptiometry (DXA) scan was performed to determine fat mass, the percentage of body fat and lean body mass using a Lunar Prodigy (GE, USA). Dietary constituents were assessed by questionnaire (nutrient intake from a 3-day period: 2 weekdays and 1 weekend day) and calculated using the nutritional computer program Dietetyk2®. Serum total cholesterol, high-density and low-density lipoproteins, and triglycerides concentrations were assessed by standard enzymatic methods. Serum levels of leptin, soluble leptin receptor and adiponectin were determined by immunoenzymatic assays., Results: There were no significant differences in body weight, height, BMI and lean mass values between vegetarians and normal-weight children on traditional mixed diet. Children on vegetarian diet had lower fat mass (p<0.05) and fat mass/lean mass ratio (p<0.05) than normal-weight omnivores. However, omnivorous children with simple obesity had significantly higher body weight, height, BMI, fat and lean mass in comparison to vegetarian as well to normal-weight omnivorous children. The fat mass/lean mass ratio in obese children was about 2.5-fold higher than in normal-weight subjects on traditional diet. Total energy and percentage of energy from macronutrients in diets of all children were within the recommended daily intake. Children on vegetarian diet was related with lower fat and higher carbohydrates intake in comparison to their omnivorous peers. Vegetarian children had significantly lower mean total cholesterol (151.5±18.0 mg/dL), low-density lipoprotein (81.0±13.6 mg/dL) and triglycerides (61.6±20.5 mg/dL) than omnivores, especially the obese ones (165.0±22.3 mg/dL, 94.7±19.2 mg/dL, 82.4±32.3 mg/dL, respectively). These differences were statistically significant (p<0.05). Serum concentration of leptin was significantly lower in vegetarian children (3.0±2.1 ng/ml) compared with omnivores (6.8±3.4 ng/ml in normal weight versus 37.8±12.7 ng/ml in obese) (p<0.0001). However, serum soluble leptin receptor as well as adiponectin were at higher levels in vegetarians than in omnivores (p<0.001 and p<0.05, respectively). We observed that serum leptin levels positively and soluble leptin receptor negatively correlated with body mass index and fat mass in prepubertal children. Moreover, leptin levels negatively correlated with its soluble receptor and with adiponectin., Conclusions: In children different kinds of diet might modify not only body mass and lipid profile but also serum concentration of adipocytokines. Determination of leptin and its soluble receptor, as well as adiponectin levels may be clinically useful in the medical and nutritional care of obese as well as vegetarian prepubertal children.

Unlabelled: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a fatty acid oxidation disorder with especially high mortality and uncertain long-term outcome. The aim of the study was to analyze the influence of diagnostic approach on survival in 59 affected children. Referral to a metabolic center was replaced over time by urine/blood testing in centralized metabolic laboratory (selective screening) and by pilot tandem mass spectrometry newborn screening (NBS). Molecular analysis revealed the prevalent mutation in the HADHA gene in all 58 examined cases. Twenty patients died. The number of detections and number of deaths were respectively 9 and 4 (44%) in the patients recognized by differential diagnosis, 28 and 9 (32%) - by selective screening, and 11 and 1 (9%) - by NBS. In 80% of cases the death occurred before or within 3 weeks from the identification. Urgent and active metabolic service remarkably influenced the surviving. The current age of 39 survivors is 0.5 to 23 yrs (mean 7.2 yrs). The disease frequency estimated on the patients number was 1: 115 450, whereas in the pilot NBS - 1: 109 750 (658 492 neonates tested). Interestingly, the phenylalanine level in asymptomatic neonates frequently exceeded the cut-off values., Conclusions: 1) Urgent metabolic intervention decreases mortality of LCHAD-deficient patients, but the prognosis is still uncertain. 2) Emergent metabolic reporting and service are crucial also for the survival of neonates detected by NBS. 3) The nationwide selective screening appeared efficient in LCHADD detection in the country. 4) Transient mild hyperphenylalaninaemia may occur in LCHAD-deficient newborns.

Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is associated with c.1528G>C substitution in the HADHA gene, since most patients have the prevalent mutation on at least one allele. As it is known that the disease is relatively frequent in Europe, especially around the Baltic Sea, and that the majority of Polish LCHADD patients originate from the coastal Pomeranian province, partly inhabited by an ancient ethnic group, the Kashubians, we aimed to determine the carrier frequency of the prevalent HADHA mutation in various districts of Poland with special focus on the Kashubian district. A total of 6,854 neonatal dried blood samples from the entire country, including 2,976 Pomeranian neonates of Kashubian origin, were c.1528G>C genotyped. Fifty-nine heterozygous carriers for the prevalent c.1528G>C substitution (41 Pomeranian children) were detected in the studied group. Our data reveal a geographically skewed distribution of the c.1528C allele in the Polish population; in the northern Pomeranian province the carrier frequency is 1:73, which is the highest frequency ever reported, whereas in the remaining regions it is 1:217. Hence, the incidence of LCHADD in Poland is predicted to be 1:118,336 versus 1:16,900 in the Pomeranian district. Despite the relative rarity of the disease, screening for LCHADD in neonates born in the northern part of Poland, especially those of Kashubian origin, is justified. Our data allow us to suggest a probable Kashubian origin of the prevalent c.1528G>C mutation.

Introduction: Until 1997, Poland was one of the European countries suffering from mild/moderate iodine deficiency. In 1997, a national iodine prophylaxis programme was implemented based on mandatory iodisation of household salt with 30 ± 10 mg KI/kg salt, obligatory iodisation of neonatal formula with 10 μg KI/100 mL and voluntary supplementation of pregnant and breast-feeding women with additional 100-150 μg of iodine. Our aim in this study was to evaluate the iodine status of pregnant women ten years after iodine prophylaxis was introduced., Material and Methods: A cross-sectional study was undertaken in 100 healthy pregnant women between the fifth and the 38th week of gestation with normal thyroid function, singleton pregnancy, normal course of gestation, without drugs known to influence thyroid function except iodine. Serum TSH, fT(4), fT(3), thyroglobulin (TG), anti-peroxidase antibodies (TPO-Ab), anti-thyroglobulin antibodies (TGAb) and urinary iodine concentration (UIC) were determined. Thyroid volume and structure were evaluated by ultrasonography., Results: Fifty nine per cent of studied pregnant women had a diet rich with iodine carriers and 35% obtained iodine supplements. Twenty eight per cent appeared to have a goitre: 11 diffuse and 17 a nodular one, median goitre volume was 18.7 mL (range 6.8-29.0 mL). Median UIC was 112.6 μg/L (range 36.3-290.3 μg/L), only 28% of women had UIC ≥ 150 μg/L. Median UIC was significantly higher in the group receiving iodine supplements than in the group without iodine supplements: 146.9 μg/L v. 97.3 μg/L respectively, p 〈 0.001. Serum TSH, fT(3) and fT(3)/fT(4) molar ratio increased significantly during pregnancy while fT(4) declined. Median serum TG was normal: 18.3 ng/mL (range 0.4-300.0 ng/mL) and did not differ between trimesters. Neonatal TSH performed on the third day of life as a neonatal screening test for hypothyroidism was normal in each case: median value was 1.49 mIU/L (range 0.01-7.2 mIU/L). Less than 3% (2 out of 68) of results were 〉 5 mIU/L., Conclusion: Iodine supplements with 150 μg of iodine should be prescribed for each healthy pregnant woman according to the assumptions of Polish iodine prophylaxis programme to obtain adequate iodine supply. (Pol J Endocrinol 2010; 61 (6): 646-651).

Introduction: Early childhood obesity may play an important role in development of the metabolic syndrome characterized by abnormalities in several major cardiovascular risk factors. Only a few studies demonstrate that weight reduction leads to an improvement of the atherogenic risk-factor profile in prepubertal children., Aim: The aim of this study was to assess the concentration of C-peptide and selected parameters of lipid profile in prepubertal obese children before and after weight reduction therapy., Material and Methods: Changes in nutrition, anthropometric and biochemical parameters including C-peptide concentration and lipid profile were determined in 52 obese children (z-score BMI > or =2SD) aged 4-10 years, before and after a 3-months lifestyle intervention programme. This programme consisted of dietary (1200-1400 kcal/day) and physical activity modifications and behaviour therapy, including individual psychological care of the child and its family. The reference group consisted of 30 healthy normal-weight children. Total cholesterol, LDL and HDL-cholesterol and triglicerydes levels were measured by routine enzymatic methods. Concentration of C-peptide was determined using the immunoenzymatic kit., Results: All obese children were divided into two groups: A and B. In group A with decreased BMI by 10% (25.4 +/- 3.1 vs. 22.8 +/- 2.9 kg/mi; p < 0.01) after the 3-months therapy we found also decreased concentrations of triglicerydes and C-peptide by about 20% (77.9 +/- 28.5 vs. 60.7 +/- 17.5 mg/dl; p < 0.02) and 35% (2.96 +/- 1.52 vs. 1.94 +/- 1.40 ng/ml; p < 0.05) respectively. In group B, without changes in the BMI during therapy, no significant differences in these biochemical parameters were observed. Moreover, higher level of total cholesterol and LDL-cholesterol by 10% (p < 0.05) observed in this group may be related to dietary cholesterol, which was similar both at baseline and 3 months later., Conclusion: We suggest that weight-reduction programme is necessary in prepubertal obese children with abnormal lipid profile as a prevention of metabolic syndrome in later life. Our findings support the beneficial effects of weight reduction programme if it is accepted by obese children and their parents. Additionally, we suggest, that C-peptide may be useful in monitoring of this therapy. Further studies with longer term intervention are needed to confirm the value of this biochemical marker in the management of prepubertal obese children.

Infants with positive CF newborn screening (NBS) results are called to a CF Centre for verification. Those, in whom the sweat test is elevated, undergo further medical procedures. The aim of our study was to evaluate the applicability of Nanoduct - a new system measuring sweat conductivity and giving immediate results in a CF NBS protocol. Measurements with Nanoduct were compared with the classic pilocarpine method. During 3 years 487 infants from CF NBS had both sweat tests performed on the same day, at the same CF centre. CF infants had a mean conductivity of 99.8 ± 1 8.8 mmol/L and a mean chloride concentration of 74.0 ± 18.4 mmol/L. Non-CF infants values were 29.8 ± 7.7 mmol/L and 19.2 ± 6.6 mmol/L respectively. A good correlation between both tests was found (95% confidence level (CI); r=0.87). The optimal cut off, based on follow up experience of screened children, for conductivity tests was 50 mmol/L and for chloride concentration was 34 mmol/L (no lost CF, 11 false positive) with 100% sensitivity and 97.5 % specificity. In conclusion Nanoduct is a very useful and reliable tool in CF NBS protocol, allowing more time efficient organization of the diagnostic and training procedures. Simultaneous bilateral sweat testing with two different methods (concentration and conductivity) provides an extra quality control system.

Unlabelled: The vegetarian diet may play a preventive role in the development of chronic diseases such as coronary heart and cardiovascular disease. However increase of homocysteine (Hcy) concentration in peoples avoiding animal products may contribute to an increased atherosclerotic risk in these subjects. Recent evidence has suggested that role of hyperhomocysteinemia in atherogenesis is associated with process of autooxidation, which can promote the production of hydroxyl radicals, resulting in oxidative modification of low density lipoprotein and endothelium injury. The oxidant-antioxidant imbalance depends not only on the amount of enhanced free oxygen species but also insufficiency of antioxidant defence system. Total antioxidant status (TAS) expresses capacity for scavenging of free radicals minimizes oxidative damage. The aim of this study was to asses concentrations of homocysteine and total antioxidant status in serum of children on vegetarian and omnivorous diet. We also studied levels of vitamin A (retinol) and vitamin E (alpha-tocopherol) particular components of TAS., Material and Methods: The study included 35 children, aged 5-16 who had been referred to Institute of Mother and Child for dietary consultation. From those, 17 were lacto-ovo-vegetarians and 18 omnivores. Dietary constituents were analyzed using the nutritional programme Dietetyk2 and completed with supplementation data. Concentration of homocysteine was estimated in serum with fluorescence polarization immunoassay and TAS by colorimetric method. Levels of vitamin A and E were determined using high-pressure liquid chromatography (HPLC)., Results: The mean concentration of homocysteine was similar in both studied groups (vegetarians: 6.13 +/- 1.01 micromol/l vs. omnivores: 5.45 +/- 0.98 micromol/l). In vegetarian children serum level of TAS was significantly lower (1.21 +/- 0.06 mmol/I) as compared to those in non-vegetarian ones (1.30 +/- 0.05 mmol/l, p < 0.0001), but remained within the physiological range (1.16-1.40 mmol/l). The mean concentrations of vitamins A and E in serum of vegetarians were lower than observed in omnivores group, but only in case of alpha-tocopherol the difference was statistically significant (vegetarians: 15.58 +/- 4.12 vs. omnivores: 18.41 +/- 3.10; p < 0.05)., Conclusion: In studied group of children on lacto-ovo-vegetarian diet, serum concentrations of homocysteine are normal and daily food intake of antioxidants and their level in blood are sufficient for preserving adequate total antioxidant status.

The objective of our study was to determine acrylamide content in the Polish foods and to assess the average dietary acrylamide exposure of the Polish population. We analysed the acrylamide content in Polish food using GCQ-MS/MS method. The daily dietary acrylamide exposure was computed using a probabilistic approach for the total Polish population (1-96 years) and for the following age groups: 1-6, 7-18 and 19-96, using Monte Carlo simulation technique. To assess the Polish population exposure to acrylamide present in food, food consumption data was taken from the 'Household Food Consumption and Anthropometric Survey in Poland'. The mean content of acrylamide in tested 225 samples of foodstuffs taken randomly all over Poland, ranged widely from 11 to 3647 microg/kg of product. For the total Polish population (1-96 years) the estimated acrylamide mean exposure is 0.43 microg/kg of body weight per day. The main sources of dietary acrylamide in Polish population were as follow: bread--supplied 45% of total dietary acrylamide intake, French fries and potato crisps--23%, roasted coffee--19%., (Copyright (c) 2010 Elsevier Ltd. All rights reserved.)

Objective: To evaluate physical growth, development and nutritional status in adults with previously undiagnosed/ untreated phenylketonuria (PKU)., Methods: Four hundred adults (201 females and 199 males) with severe intellectual disability who were born prior to compulsory neonatal screening (before 1976) and who resided in social welfare homes in southeastern Poland were screened for PKU. The screening was performed by blood test using a tandem mass spectrometry method (MS/MS) and was confirmed by analysis of organic acids in urine. Eleven were identified as previously undiagnosed and/or untreated PKU cases. They underwent an assessment of their somatic development/status., Results: Among the 11 PKU patients (4 females and 7 males) the following characteristics were observed: poor physical growth after somatic development (n = 8, 2 females aged 23 and 56 years and 6 males aged 28-59 years); decreased head circumference - microcephaly (n = 5, 1 female aged 56 years and 4 males aged 28-59 years); poor body height (n = 2, 1 female aged 23 years and 1 male aged 59 years); poor thoracic circumference (n = 9, 3 females aged 23-56 years and 6 males aged 28-59 years). Overall, body weight imbalance was noted in 9 (81.8%) patients and irregularity of body proportions in 6 (54.5%) patients., Conclusion: Our data showedthe importance of nutritional surveillance and impact of metabolic imbalance on physical growth and body stature in untreated PKU patients. We therefore recommend an adequate and individually planned introduction of dietary intervention among that group of patients in order to ameliorate its nutritional status, general fitness and health., (Copyright 2009 S. Karger AG, Basel.)

It is commonly known, that tobacco smoking during pregnancy has negative influence on child birth mass. Also in polish population neonates of smoking mothers are frequently born with lower body mass and are smaller. Purpose of this study was to estimate the percentage of women smoking during pregnancy and its relation to body mass of newborns. Research was made on the basis of standardized survey questionnaire done in the group of 20320 mothers. Women were divided into non-smoking and smoking before conception and during pregnancy. Questions concerned also intensity of smoking and body mass of a child. Among of participants 41.5% were in smokers group with tendency to decrease in the course of pregnancy. However even in 3-rd trimester percentage of smoking mothers was high. Body mass of newborns of smokers was lower than in group of abstinent and was related to intensity of smoking. In the light of these results some more intensive prophylactic and education actions are needed.

Introduction: Children's simple obesity and its adverse health effects need efficient dietary treatment and physical activity recommendations. Anthropometric parameters may not identify all positive changes associated with lifestyle modifications., Aim: The aim of this study was to investigate if leptin and soluble leptin receptor concentration can be clinically useful markers for the monitoring of therapy efficacy in prepubertal obese children., Material and Methods: Changes in clinical, anthropometric and metabolic parameters including leptin and soluble leptin receptor in 26 patients aged 4-10 years, before and after a 3-months lifestyle intervention programme, were determined. This programme consisted of dietary and physical activity modifications and behaviour therapy, including individual psychological care of the child and its family. The recommended daily intake from a low-energy diet was 1200-1400 kcal/day. The reference group consisted of 30 healthy normal-weight children. Concentration of serum leptin and soluble leptin receptor were measured by ELISA kits., Results: After a 3-months therapy in the obese children we observed decreased leptin concentration by about 50% (p<0.001) and increased leptin receptor concentration by about 20% (p<0.05), in comparison to the baseline. Significant negative correlation was obtained between both markers before (r= -0.506, p<0.001) and after therapy (r= -0.572, p<0.001). In children with lifestyle intervention programme lower body mass index, by about 10% (p<0.05) was found., Conclusions: The presented results suggest that leptin, as well as soluble leptin receptor, may identify positive changes in metabolism associated with weight reduction. Further studies with longer term therapy of the study group are continued, in order to confirm the value of these biochemical markers in the management of prepubertal obese children.

The aim of the study was to determine the level of functional independence in adult patients with previously undiagnosed or untreated phenylketonuria (PKU). The study was conducted among 400 intellectually impaired adult residents of Social Welfare Homes in South-Eastern Poland born prior to the introduction of neonatal PKU screening programs. PKU was screened by filter paper test using tandem mass spectrometry methods, and confirmed by gas chromatography-mass spectrometric analysis of PKU organic acids in urine. Degree of functional independence included the assessment of activities of daily living (Barthel Index) and measures of balance and gait (Tinetti scale). Eleven individuals with previously untreated PKU were identified whereby eight presented with moderate disability and three with mild disability. Six had a high risk of falls and five had a moderate risk of falls. This study indicates that there is considerable number of undiagnosed PKU patients within the Polish population who require assessment and management in order to reduce the impact of the neurological and neuropsychiatric problems associated with the condition. Appropriate therapy for those with undiagnosed PKU should, in particular, address the risk of falls.