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The assessment of IGF-1 concentrations is one of the parameters used for evaluating response to rhGH treatment. An increase in IGF-1 concentration positively correlates with growth improvement, whereas IGF-1 concentrations significantly above the reference range may increase the risk of possible side effects. The aim of this study was to evaluate the IGF-1 local reference ranges for the rhGH treatment centers concerned and to compare these values with the population reference ranges. A retrospective analysis was conducted on auxological data from 229 SGA patients who received rhGH treatment between 2016 and 2020 at six university clinical centers in Poland. The IGF-1 levels were assessed at baseline, after 12 and 24 months, and compared to the reference ranges provided by the local laboratory and to the population reference ranges. After 12 months, 56 patients (24%) presented IGF-1 values > 97th percentile for the local reference range, whereas only 8 (3.5%) did so using the population reference ranges; p < 0.001. After 24 months of treatment, the values were: 47 (33%) > 97th percentile by local vs. 6 (4.2%) by population standards; p < 0.001. Thirty-nine patients had rhGH dose reduced after 12 months, of whom twelve (25%) had IGF-1 > 97th percentile according to the local reference ranges and five (13%) > 97th percentile for the population. Our data suggest that different methods used to determine IGF-1 concentration and the different IGF-1 reference ranges result in a significant proportion of rhGH-treated children with elevated IGF-1 concentration and experiencing dose reductions, which may negatively affect growth rate. [ABSTRACT FROM AUTHOR]

The aim of this work is to experimentally determine and evaluate the value of the correction factor for ultrasonic flow meters in order to improve their accuracy. This article concerns flow velocity measurement with the use of an ultrasonic flow meter in the area of disturbed flow behind the distorting element. Clamp-on ultrasonic flow meters are popular among measurement technologies due to their high accuracy and easy, non-invasive installation, because the sensors are mounted directly on the outer surface of the pipe. In industrial applications, installation space is usually limited and, therefore, flow meters frequently have to be mounted directly behind flow disturbances. In such cases, it is necessary to determine the value of the correction factor. The disturbing element was a knife gate valve, a valve often used in flow installations. Water flow velocity tests were performed using an ultrasonic flow meter with clamp-on sensors on the pipeline. The research was performed in 2 series of measurements with different Reynolds numbers of 35,000 and 70,000, which correspond to a velocity of approximately 0.9 m/s and 1.8 m/s. The tests were carried out at different distances from the source of interference, within the range of 3–15 DN (pipe nominal diameter). The position of the sensors at successive measurement points on the circuit of the pipeline was changed by 30 degrees. Flow velocity measurements were carried out for two different levels of the valve's closure: 1/3 and 1/2 of the valve's height. For the collected velocity values at single measurement points, the values of the correction coefficient, K, were determined. The results of the tests and calculations prove that compensation error of measurement performed behind the disturbance without keeping the required straight sections of the pipeline is possible by using the factor K*. The analysis of the results made it possible to identify the optimal measuring point at a distance from the knife gate valve as being smaller than specified in the standards and recommendations. [ABSTRACT FROM AUTHOR]

Recovery of zinc and manganese from scrapped alkaline batteries were carried out in the following way: leaching in H2SO4 and selective precipitation of zinc and manganese by alkalization/neutralization. As a result of non-selective leaching, 95.6–99.7% Zn was leached and 83.7–99.3% Mn was leached. A critical technological parameter is the liquid/solid treatment (l/s) ratio, which should be at least 20 mL∙g−1. Selective leaching, which allows the leaching of zinc only, takes place with a leaching yield of 84.8–98.5% Zn, with minimal manganese co-leaching, 0.7–12.3%. The optimal H2SO4 concentration is 0.25 mol∙L−1. Precipitation of zinc and manganese from the solution after non-selective leaching, with the use of NaOH at pH = 13, and then with H2SO4 to pH = 9, turned out to be ineffective: the manganese concentrate contained 19.9 wt.% Zn and zinc concentrate, and 21.46 wt.% Mn. Better selectivity results were obtained if zinc was precipitated from the solution after selective leaching: at pH = 6.5, 90% of Zn precipitated, and only 2% manganese. Moreover, the obtained concentrate contained over 90% of ZnO. The precipitation of zinc with sodium phosphate and sodium carbonate is non-selective, despite its relatively high efficiency: up to 93.70% of Zn and 4.48–93.18% of Mn and up to 95.22% of Zn and 19.55–99.71% Mn, respectively for Na3PO4 and Na2CO3. Recovered zinc and manganese compounds could have commercial values with suitable refining processes. [ABSTRACT FROM AUTHOR]

Short stature resulting from SGA is an obligatory indication for treatment with rhGH. The aim of the study was to assess the response to rhGH treatment in patients treated in the years 2016–2020 in six clinical centers in Poland. During the analysis, auxological data were collected, and anthropometrical parameters (Ht, SDS Ht, HV and ΔHV) were reassessed. Subgroups of patients with dysmorphic features (DYSM), fetal alcohol syndrome (FAS) and Silver-Russel syndrome (SRS) were selected. The study group consisted of 235 children (137 boys). The medium initial age was 9.08 years, and 190 patients were in the prepubertal stage. The poor response to treatment was defined as ΔHt SDS < 0.3 and/or ΔHV < 3 cm/year. Seventeen per cent of all patients after the first year and 44% after the second year met the ΔHt SDS < 0.3 criterion, and 56% during the first and 73% during the second year met the ΔHV < 3 cm/year criterion. Our data suggest that patients with SRS may show the best response to treatment, which was sustained throughout the follow-up period. The best response in all subgroups was observed during the first 12 months of therapy. Although the proportion of patients meeting the poor response criteria was high, only a few patients exceeded the 97th percentile for IGF-1 concentration during the first year of treatment. This might suggest that increasing the dose of rhGH in the second treatment year in order to sustain accelerated HV would be safe in these patients. [ABSTRACT FROM AUTHOR]

The paper presents an engine control algorithm, based on an artificial neural network (ANN), which ensures a quick and smooth inertia phase of an upshift in a dual-clutch transmission (DCT). The main emphasis is placed on 3D characteristics, which can be directly implemented in the ECU, to control the inertia phase, when the engine speed decreases to reach the target clutch speed. They are developed based on an ANN model which approximates data obtained during engine test bed measurements in dynamic states. Moreover, to provide an overall gear change algorithm, the dual-clutch assembly activation mechanism was also analysed. [Display omitted] • Inertia of the engine influences its performance in dynamic states significantly. • Dual clutch transmission control with the use of static characteristic is imprecise. • Neural network allows the engine dynamic model to be obtained. • Neural engine model allows 3D characteristics to be determined. • Developed 3D characteristics control throttle angle during upshifts. [ABSTRACT FROM AUTHOR]

The aetiology of inflammatory bowel diseases (IBD) seems to be strongly connected to changes in the enteral microbiome. The dysbiosis pattern seen in Crohn's disease (CD) differs among published studies depending on patients' age, disease phenotype and microbiome research methods. The aims was to investigate microbiome in treatment-naive paediatric patients to get an insight into its structure at the early stage of the disease in comparison to healthy. Stool samples were obtained from controls and newly diagnosed patients prior to any intervention. Microbiota was analysed by 16SrRNAnext-generation-sequencing (NGS). Differences in the within-sample phylotype richness and evenness (alpha diversity) were detected between controls and patients. Statistically significant dissimilarities between samples were present for all used metrics. We also found a significant increase in the abundance of OTUs of the Enterococcus genus and reduction in, among others, Bifidobacterium (B. adolescentis), Roseburia (R.faecis), Faecalibacterium (F. prausnitzii), Gemmiger (G. formicilis), Ruminococcus (R. bromii) and Veillonellaceae (Dialister). Moreover, differences in alpha and beta diversities in respect to calprotectin and PCDAI were observed: patients with calprotectin <100 µg/g and with PCDAI below 10 points vs those with calprotectin >100 µg/g and mild (10–27.7 points), moderate (27.5–40 points) or severe (>40 points) CD disease activity had higher richness and diversity of gut microbiota. The results of our study highlight reduced diversity and dysbiosis at the earliest stage of the disease. Microbial imbalance and low abundance of butyrate-producing bacteria, including Bifidobacterium adolescentis, may suggest benefits of microbial modification therapy. [ABSTRACT FROM AUTHOR]

Lymphocyte responses in the blood, peritoneal fluid and both mesenteric and hepatic lymph nodes of cDNA-FhPGK/pCMV vaccinated and/or Fasciola hepatica infected rats of both sexes were investigated to provide an insight into the immune responses that develop in different body compartments. The immune response that developed in cDNA-FhPGK/pCMV vaccinated females contributed to partial protection against F. hepatica infection (54% reduction in fluke recovery), while more liver flukes were found in the livers and bile ducts of cDNA-FhPGK/pCMV vaccinated male rats than in unvaccinated animals (increase of 13%). Rat sex not only affected the ultimate effectiveness of vaccination but also lymphocyte responses following vaccination and/or infection. Different CD4 + and CD8 + T cell profiles were noted in peritoneal fluid and lymph nodes, but not in blood, during acute and chronic fasciolosis. Moreover, independent lymphocyte responses developed in distinct body compartments. Immune responses of rats were polarized towards Th2/Treg with lymphocytes isolated from male rats showing higher IL-4 and IL-10 production than females. Lymphocyte proliferative capacities in response to mitogen (PHA) or vaccine antigen (FhPGK) were impaired in both sexes with a considerably higher reduction observed for males and restored lymphocyte proliferative capacities reported for females vaccinated with cDNA-FhPGK/pCMV during chronic fasciolosis. [ABSTRACT FROM AUTHOR]

The relationship between the gut and skeleton is increasingly recognized as a component of the regulation of carbohydrate metabolism. The aim of our study was to assess the relationship between bone mineral density (BMD), incretin hormones glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1), intestinotrophic peptide glucagon-like peptide-2 (GLP-2) and osteocalcin isoforms in patients with long-term type 1 diabetes (T1D) when compared to healthy controls. Eighty two patients with long term T1D, treated in the Department of Metabolic Diseases and 53 healthy controls were recruited to the study. Long term disease duration was defined as lasting for more than 10 years. The control group was selected among age- and sex-matched healthy people. Fasting blood samples were collected to measure levels of incretin hormones (GLP-1, GLP-2, GIP), two forms of osteocalcin (uncarboxylated (ucOC), and carboxylated (cOC)), and additional biochemical parameters associated with glucose and bone metabolism (HbA1c, calcium, phosphorus, 25(OH)D3, PTH). Patients with T1D had higher BMI than in controls (p = 0.02). There was no difference in BMD at the lumbar spine and the femoral neck between patients with long-term T1D and healthy ones. Z -score values in both groups were within normal ranges. The level of GIP was significantly higher in T1D patients (p = 0.0002) in comparison to the healthy ones. The levels of GLP-1 and GLP-2 did not differ between T1D patients and controls. In the T1D group, strong, positive associations were found between serum levels of GLP-1 and cOC (r = 0.546, p < 0.001) and between GLP-1 and total OC (r = 0.51, p < 0.001), also after adjusting for BMI (p < 0.001 and p < 0.001, respectively). Significant positive associations were also found between serum levels of GLP-2 and cOC (r = 0.27, p = 0.013) and between GLP-2 and total OC (r = 0.25, p = 0.018), also in a multivariate regression (p = 0.009, p = 0,175, respectively). Moreover, in T1D patients, GLP-1 correlated positively with the femoral neck BMD (g/cm2) (r = 0.265, p = 0.016) and this association was statistically significant after adjusting for BMI (p = 0.011). These correlations were not present in the control group. The only significant correlation observed in the control group was between OC and BMD of the neck (p = 0.049 for neck BMD g/cm2, and p = 0.041 for neck Z -score). Our data suggests an effect of gut hormones on bone in long-term T1D, which could be associated with OC activity, however we did not find a direct connection with glucose metabolism. GLP-1 could have a possible, protective role on bone mineral density in patients with T1D. The data from our study suggests that gut hormones could be considered as a new link in the skeleton - pancreatic endocrine loop in patients with T1D. • Patients with long-term diabetes mellitus type 1 (T1D) have a significantly higher level of glucose-dependent insulinotropic polypeptide (GIP) in comparison to healthy ones. • There is a strong association between the gut hormones glucagon-like peptide-1 (GLP-1) and glucagon-like peptide-2 (GLP-2) and cOC in T1D. • An effect of gut hormones on bone in T1D could be associated with OC activity. • In patients with long-term T1D GLP-1 levels correlated positively with femoral neck BMD independently from their body mass index. • GLP-1 could have a possible, protective role on bone mineral density in patients with long-term T1D. • Intestinal hormones could be considered as a new link in the skeleton - pancreatic endocrine loop in long-term T1D. [ABSTRACT FROM AUTHOR]

DNA vaccination in large animals has often been associated with poor immunogenicity, consequently several approaches have been evaluated to enhance its efficacy. Here, we tested a cDNA encoding a phosphoglycerate kinase from Fasciola hepatica (cDNA-FhPGK/pCMV) as a vaccine against ovine fasciolosis and investigated whether a DNA prime/protein boost regime or CTLA-4 (cytotoxic lymphocyte antigen 4) mediated targeting improved DNA vaccine efficacy. No statistically significant differences in the cellular responses were seen in either vaccine trial when compared with the respective control groups. However, specific antibody responses were considerably enhanced in DNA primed/protein boosted sheep, but not among CTLA-4 targeted cDNA-FhPGK/pCMV vaccinated animals. Nevertheless, increased titers of specific IgG1 did not contribute to protection against infection, with no differences in liver fluke recoveries reported. If DNA vaccines against fasciolosis in target species are to reach the market one day, more research in this area is needed. [ABSTRACT FROM AUTHOR]

Background: There is an increased risk for childhood type 1 diabetes (T1D) when T1D and type 2 diabetes (T2D) are reported in relatives., Objectives: Our objective was to evaluate current family risk factors for T1D development before implementing a national screening program for T1D., Material and Methods: A population of 879 Caucasian children and adolescents with T1D and 286 healthy controls were enrolled in the study. All participants completed the same questionnaire, which collected information about family history of diabetes over 3 generations. In statistical analyses, frequency tables and χ2 tests evaluated possible multicollinearity among risk factors that were significantly associated with the outcomes., Results: Family history of diabetes was more frequent in controls (n = 75, 26.2%) than in patients with T1D (n = 146, 16.6%, odds ratio (OR) = 1.785, 95% confidence interval (95% CI): 1.299-2.452, degrees of freedom (df) = 12.976, p = 0.004), especially with a family history of T2D (n = 62, 21.7% compared to n = 79, 9.0%, respectively, OR = 2.803, 95% CI: 1.948-4.034, df = 32.669, p < 0.001). Also, there was a tendency for the nuclear family of T1D patients to be more frequently affected by T1D (n = 74, 8.4%) than the controls (n = 15, 5.2%, OR = 1.605, 95% CI: 0.937-2.751, df = 3.081, p = 0.079). The risk of T1D was associated with the closest family members being affected and accelerated over generations. Indeed, it was highest in siblings, especially brothers (OR = 12.985, 95% CI: 0.782-215.743, Fisher's test: p < 0.001). A positive family history of T2D burden among second-degree relatives was 2.728 times more frequent in the control group than in the T1D group (OR = 2.728; 95% Cl: 1.880-3.962, p < 0.001). Furthermore, a positive family history of T1D among first-degree relatives was less frequent in the controls than in the T1D group (OR = 0.124; 95% Cl: 0.030-0.516, p = 0.004)., Conclusions: A family history of T1D, but not T2D, is a significant risk factor for T1D development. Indeed, the priority in screening for T1D should be given to first-degree relatives of T1D patients, starting from siblings.

Introduction: The aim of the study is to analyze patients who do not respond adequately to human recombinant growth hormone (rhGH) treatment., Material and Methods: Four boys were analyzed: three patients diagnosed with SNP at the ages of 1) 8 years and 2 months, 2) 13 years and 2 months, 3) 16 years and 6 months, and patient 4) at the age of 6 years and 11 months - born small for gestational age (SGA). They underwent rhGH treatment., Results: The expected growth improvement was not observed in all boys. Patient 1 was diagnosed with aortic coarctation, and after each attempt to increase the rhGH dose, nocturnal vomiting occurred - epilepsy was diagnosed. Patient 2 had severe foot pain. Patient 3 had delayed puberty - hypogonadotropic hypogonadism was diagnosed. Patient 4 had dysmorphic features. Genetic tests revealed the following: 1) mixed gonadal dysgenesis - modifying treatment; 2) Fabry disease - enzyme treatment and rhGH improved growth; 3) Kallmann syndrome - discontinuing rhGH for testosterone supplementation; 4) KBG syndrome., Conclusions: 1. The presence of dysmorphic features and symptoms atypical for growth hormone deficiencies could warrant genetic diagnostics before initiating treatment. 2. Lack of significant improvement in growth is an indication for reevaluation of patients who have not completed growth. 3. Genetic studies in this patient group often elucidate the causes of slow growth rate. 4. The case authors have developed a proposal for a multicentre program aimed at establishing indications for genetic diagnosis in children diagnosed with SNP and SGA treated with rhGH.

Caring for patients with Crohn's disease (CD) is a serious challenge in modern medicine. The increasing incidence of CD among adolescents and the severe course of the disease create the need for new methods of diagnosis and therapy. Endogenous opioids are a group of low molecular weight chemical compounds with analgesic and anti-inflammatory properties. Endorphins, enkephalins, and dynorphins may have potentially beneficial effects on the course of CD. Previous research data on this topic are inconsistent. Some authors have reported an increase in the concentration of leukocytes during the course of inflammatory bowel disease (IBD) while others have described a downward trend, explained by DPP-IV enzyme activity. Even fewer data are available on plasma endo-opioid level. There is also a lack of comprehensive studies that have assessed the endo-opioid system in patients with IBD. Therefore, the objective of this study was to measure the serum concentrations of human β-endorphin, human proenkephalin (A), and human big dynorphin in CD patients in the acute phase of the disease, during hospital treatment, and in the remission state. All determinations were performed using ELISA kits. The results of our study showed that the concentrations of all the tested endo-opioids, especially β-endorphin and proenkephalin (A), were reduced in adolescents with CD compared to those in the healthy control group, during the acute phase of the disease, and in the remission state. Modulation of the endogenous opioid system and the use of selective nonnarcotic agonists of opioid receptors seems to be promising goals in the future treatment of CD.

Acute lymphoblastic leukemia (ALL) is the most common type of leukemia in children, comprising 75-85% of cases. Aggressive treatment of leukemias includes chemotherapy and antibiotics that often disrupt the host microbiota. Additionally, the gut microbiota may play a role in the development and progression of acute leukemia. Prebiotics, probiotics, and postbiotics are considered beneficial to health. The role of prebiotics in the treatment and development of leukemia is not well understood, but inulin can be potentially used in the treatment of leukemia. Some probiotic bacteria such as Lactobacillus shows anticancer activity in in vitro studies. Additionally, Bifidobacterium spp., as a consequence of the inhibition of growth factor signaling and mitochondrial-mediated apoptosis, decrease the proliferation of cancer cells. Many bacterial metabolites have promising anticancer potential. The available research results are promising. However, more research is needed in humans, especially in the child population, to fully understand the relationship between the gut microbiota and acute leukemia.

Introduction: Type 1 diabetes mellitus (T1DM) is one of the most common chronic diseases in childhood. Because acute glycaemic com-plications account for most concerns in the management of T1DM in children, special attention during the challenging time of the global COVID-19 pandemic is required to prevent deteriorations resulting in acute hospitalization., Aim of the Study: is to assess how the COVID-19 pandemic influenced the incidence and causes of acute hospitalizations and emergency room visits in adolescents with established type 1 diabetes mellitus, and to characterize the admitted population., Material and Methods: The study was conducted as a retrospective evaluation of acute hospitalizations of 39 T1DM patients between 15 and 17 years of age in the period 2018-2021., Results: No difference was noted in the incidence of acute hospitalizations and DKA or the biochemical parameters of adolescents with T1DM between the pre-COVID (23 patients in 2018-2019) and COVID period (16 patients in 2020-2021). It is, howev-er, worth underlying that 6/11 (55%) patients hospitalised in 2021 experienced diabetes deterioration as a result of emo-tional distress - a phenomenon that was not present in the pre-COVID era. After excluding of the hospitalizations due to psy-chosocial causes, a significant decrease in the number of acute hospitalizations in the COVID period was observed., Conclusions: We suppose that increased parental supervision during the pandemic might have prevented some of the episodes of severe disease decompensation, but this was masked by the sharp increase in hospitalizations due to emotional distress. Our data confirmed that psycho-emotional status is an important factor in the treatment of T1DM.

Objective: Oncologic treatment can affect the adrenal glands, which in stressful situations may lead to life threatening adrenal crisis. The aim of the study was to assess adrenal function in pediatric acute lymphoblastic leukemia (ALL) survivors and to identify the best markers for this assessment., Methods: Forty-three ALL survivors, mean age 8.5±3.6 years and 45 age and sex-matched healthy controls were recruited to the study. ALL patients were assessed once within five years following oncological treatment completion. Fasting blood samples were collected from all participants to measure: fasting blood glucose (FBG); cortisol; aldosterone; plasma renin activity (PRA); dehydroepiandrostendione-sulfate (DHEA-S); and adrenocorticotropic hormone (ACTH). Moreover, diurnal profile of cortisol levels and 24-hour urinary free cortisol (UFC) were assessed. ALL survivors underwent a test with 1 ug of synthetic ACTH., Results: The study revealed lower level of PRA (1.94±0.98 ng/mL/h vs 3.61±4.85 ng/mL/h, p=0.029) and higher FBG (4.6±0.38 mmol/L vs 4.41±0.39 mmol/L, p=0.018) in the ALL group compared to controls. UFC correlated with evening cortisol (p=0.015, r=0.26), midnight cortisol (p=0.002, r=0.33), and DHEA-S (p=0.004, r=0.32). UFC also correlated with systolic and diastolic blood pressure (p=0.033, r=0.23 and p=0.005, r=0.31, respectively). The ACTH test confirmed impaired adrenal function in 4/43 ALL survivors (9%). Two of the patients who needed permanent hydrocortisone replacement had low UFC, midnight cortisol and DHEA-S levels., Conclusion: These results highlight the importance of reviewing adrenal gland functionality after chemo/radiotherapy in ALL survivors. DHEA-S proved to be a good marker to assess the adrenal glands after oncological therapy. Post-treatment disturbances of the adrenal axis could be associated with metabolic complications.

The magnetic properties of lead selenide (PbSe) and indium-doped lead telluride (PbTe:In) composites have been studied by using the electron paramagnetic resonance (EPR) technique. The samples were obtained by using the pulsed laser deposition method (PLD). Temperature dependences of the EPR spectra were obtained. The analysis of the temperature dependencies of the integral intensity of the EPR spectra was performed using the Curie-Weiss law. In these materials, the paramagnetic centers of Pb 1+ and Pb 3+ ions were identified. The results are discussed.

Iron deficiency anemia (IDA) is very common and affects approximately 1/3 of the world's human population. There are strong research data that some probiotics, such as Lactobacillus acidophilus and Bifidobacterium longum improve iron absorption and influence the course of anemia. Furthermore, prebiotics, including galactooligosaccharides (GOS) and fructooligosaccharides (FOS), increase iron bioavailability and decrease its destructive effect on the intestinal microbiota. In addition, multiple postbiotics, which are probiotic metabolites, including vitamins, short-chain fatty acids (SCFA), and tryptophan, are involved in the regulation of intestinal absorption and may influence iron status in humans. This review presents the actual data from research studies on the influence of probiotics, prebiotics, and postbiotics on the prevention and therapy of IDA and the latest findings regarding their mechanisms of action. A comparison of the latest research data and theories regarding the role of pre-, post-, and probiotics and the mechanism of their action in anemias is also presented and discussed.

Introduction: Some storage diseases, caused by a deficiency of a specific enzyme, which results in the systemic accumulation of non-metabolized substances, can be treated with enzyme replacement therapy (ERT), which can protect many organs, including the endocrine system., Aim: The aim of the study was to assess the function and morphology of the thyroid gland in children with storage diseases treated with ERT, and to review the literature., Material and Methods: Eight patients were included in the study: 3 with Fabry disease (age: 17; 9.9; 10 years), 3 with Hunter's disease (12.3; 4.1; 9,3), and 2 with Pompe disease (6.8; 9,5). Thyroid function and morphology were assessed in each patient during ERT, and 4 of them were reassessed 27 months later., Results: One patient with Fabry disease had been treated for hypothyroidism due to autoimmune thyroiditis diagnosed before the study. The remaining patients had normal thyroid tests and negative anti-thyroid antibodies at first and second evaluation; however, in all reassessed patients a decrease in TSH value was noted. Among the remaining patients with Fabry disease, one had normal and a second had heterogeneous echogenicity of the thyroid during first assessment. In the second patient, normalisation of echogenicity was observed at reassessment. Both patients with Pompe disease assessed once had slightly heterogeneous thyroid echogenicity. In 3 patients with Hunter's disease in the first ultrasound examination, no abnormalities were found. In re-evaluation, 2 of them showed heterogeneous thyroid echogenicity., Conclusions: We conclude that patients with storage diseases should undergo assessment of thyroid function and morphology before and during ERT.

Introduction: Oncological therapy can temporarily or permanently disrupt adrenal gland function. The aim of our study was to assess the function of adrenal glands in cancer survivors and to find the best diagnostic tools for it., Material and Methods: Sixty patients aged 1.2-14.9 years (mean 8.3 ±3.5) with diagnosed malignancies and 45 healthy children as controls were recruited to the study. Patients were assessed 0-8 years (mean 2.4 ±2.0 years) after the oncological therapy. In all patients fasting blood samples were collected to measure: glucose, sodium, potassium, cortisol, aldosterone, plasma renin activity (PRA), dehydroepiandrostenedione-sulphate (DHEA-S), adrenocorticotropic hormone (ACTH) and antibodies against the adrenal cortex (AAA). Moreover, 24-hour urinary free cortisol (UFC) was assessed. Test with synthetic ACTH was carried out with 250 µg in neuroblastoma and nephroblastoma patients and with 1 µg in other oncological patients., Results: The levels of morning cortisol and sodium were significantly lower and blood glucose were higher in cancer survivors than in controls (p = 0.006, p = 0.043, p = 0.008). Basal laboratory tests confirmed adrenal insufficiency (AI) in 1 patient with neuroblastoma. Low-dose ACTH revealed AI in 3 patients with acute lymphoblastic leukemia. In the study group, UFC correlated with evening and midnight cortisol (p = 0.001, p = 0.006). In the control group UFC correlated with DHEA-S (r = 0.623, p = 0.0001). None of assessed parameters correlated with the time since the completion of oncological therapy., Conclusions: The study confirmed possibility of developing asymptomatic AI in cancer survivors even several years after therapy. Instead of morning cortisol, classical diagnostic low-dose ACTH test seems to be an optimal tool for adrenal function's assessment.

Introduction: Autoimmune disorders, IgA deficiency, and allergies seem to be common among individuals with 18q deletion syndrome [OMIM 601808]. We aimed to determine the prevalence, mechanism, and genetic background of autoimmunity, immune deficiency, and allergy in a cohort of patients with 18q deletions., Material and Methods: Medical registries and social media were used to recruit the patients. Microarray oligonucleotide comparative genomic hybridization (aCGH) (Agilent, Santa Clara, CA, USA) was performed in all patients to identify size and location of chromosome 18 deletion. Clinical evaluation and medical record collection were performed in each of the study participants. The history of autoimmune disorders, severe and/or recurrent infections, and symptoms of allergy were noted. Total immunoglobulin IgG, IgA, IgM, IgE, and IgG 1-4 serum levels were measured using nephelometry and ELISA methods. Lymphocyte T subset phenotyping was performed in 24 subjects from 18q del cohort. To predict the most promising candidate genes, we used the ENDEAVOUR-a free web resource for gene prioritization., Results: 18q deletion was confirmed by means of array CGH analysis in 27 individuals, 15 (55.6%) females and 12 males, referred to the project by specialists in medical genetics, diabetology, or pediatric endocrinology between May 2015 and December 2019. The mean age at examination was 11.8 years (min-max: 4.0-33.5). Autoimmune disorders were present in 14/27 (51.8%) of the cohort. In eight of patients, symptoms of immune deficiency coexisted with autoimmunity. Allergy was reported in nine of 27 (33.4%) patients. Over 89% of patients presented with at list one type of immunoglobulin (IgA, IgM, IgG, IgE, and IgG 1-4 ) deficiency and eight of 25 (32%) had abnormalities in at least two major immunoglobulin (IgG, IgA, IgM) measurements (CVID-like phenotype). Patients with 18q del exhibited a significantly decreased CD4, Treg FOXP3+, TregFOXP3+Helios+, and TemCD4 cell numbers in comparison with the control groups of 24 T1DM patients and 28 healthy controls., Conclusions: Patients with 18q deletions frequently suffer from autoimmune disorders, recurrent infections, and allergy due to immune dysregulation presenting with variable antibody deficiencies and T-regulatory cell deficiency (CD4+CD25+CD127lowFOXP3+). The spectrum of speculations regarding which gene might be responsible for such phenotype ranges from single gene haploinsufficiency to deletion of a cluster of immunogenes located distally to 18q21., 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 Hogendorf, Zieliński, Constantinou, Śmigiel, Wierzba, Wyka, Wędrychowicz, Jakubiuk-Tomaszuk, Budzynska, Piotrowicz, Lipska-Ziętkiewicz, Kaczorowska, Cieślikowska, Kutkowska-Kaźmierczak, Fijak-Moskal, Kugaudo, Kosińska-Urbańska, Szadkowska, Borowiec, Niedźwiecki, Trzonkowski and Młynarski.)

Introduction: The aim of our study was to assess antimicrobial peptides in children with Crohn's disease (CD)., Methods: Plasma elafin, cathelicidin, and α- and β-defensins were assessed in 35 children with CD using immunoassays. Phenotype and location of CD were assessed based on the results of endoscopic and radiological studies., Results: We found increased elafin, cathelicidin, and α-defensins in children with inflammatory phenotype as compared to stricturing and penetrating phenotypes of CD. Additionally, we found increased elafin and cathelicidin in colonic location and α-defensins in ileal CD locations., Conclusions: Assessing antimicrobial peptides may be helpful in estimating of phenotype and location of CD lesions., Competing Interests: The authors declare no conflict of interest., (Copyright: © 2021 Termedia & Banach.)

Introduction: The aim of our study was to analyze the incidence and the clinical characteristic of celiac disease (CD) in pediatric population with type 1 diabetes mellitus (T1DM)., Material and Methods: The data of 880 patients with T1DM, 429 girls, mean age 12.14 ±4.0 years was retrospectively retrieved from medical records. Patients with T1DM and CD were selected and a detailed analysis of CD prevalence and its clinical characteristic at the time of CD diagnosis was performed. The data were compared with the previous data from our center published a decade ago., Results: CD was suspected in 85/880 patients (9.65%) on the base of results of serological tests, but finally CD was diagnosed in 73/880 patients with T1DM (8.3%), in 53/429 girls (12.3%) and in 20/451 boys (4.4%). Most patients (71%) had CD diagnosed after T1DM onset. The majority of CD patients (72%) was asymptomatic. The CD diagnosis was not associated with inappropriate metabolic control of diabetes. The onset age of diabetes in children with CD was significantly lower than in those without CD (5.8 ±3.6 years vs. 7.56 ±4.0 years, p = 0.04). The prevalence of CD is significantly higher than a decade ago in our center (8.3% vs. 5.7%, p = 0.001)., Conclusions: In light of increasing prevalence of mainly asymptomatic CD in patients with T1DM, CD screening is necessary. However positive serological tests, which are currently used in screening, and are the first step of diagnostics, in some patients allow only to suspect the CD and further diagnostic steps should be performed.

Background and Study Aims: The aim of the study was to assess the usefulness of serum concentrations of YKL-40/ CHI3L1 (a 40-kilodalton glycoprotein also referred to as chitinase 3 like- 1 - CHI3L1) and PIIINP (N-terminal propeptide of type III procollagen), markers of fibrosis, in the monitoring of inflammatory processes and fibrosis in children with inflammatory bowel disease (IBD)., Patients and Methods: In 60 patients (41 with Crohn's disease (CD), 19 with ulcerative colitis (UC)) concentrations of investigated parameters were measured at baseline (day 0), after 3 and after 6-8 weeks of pharmacological treatment., Results: PIIINP concentrations were significantly higher in CD patients compared to UC (baseline results: median concentrations 1013.73 vs 78.30 ng/mL; P = 0.06 for the Kruskall-Wallis test; results at 6-8 weeks: 1076.48 vs 53.10 ng/mL, P = 0.01). Fibrosis was clearly present in patients with CD and its severity increased (reflected by both YKL-40/ CHI3L1 and PIIINP concentrations) in 6-8 weeks of follow up, regardless of the treatment used during that time. In patients with UC the levels of YKL-40/CHI3L1 and PIIINP were lower at baseline and further decreased after 6-8 weeks (median concentrations were respectively: 39.5 ng/mL vs 24.7 ng/mL and 78.3 ng/mL vs 53.1 ng/mL)., Conclusion: Fibrosis was more severe in CD than in UC patients. The marker that more accurately reflected these differences was PIIINP.

Among long-term survivors after hematopoietic stem cell transplantation (HSCT) late endocrine complications are observed in 20-50%. Very often these complications influence significantly the patient´s life and have to be treated till the end of life. Their proper prevention and monitoring are extremely important in patients who underwent HSCT during childhood. Since the 90s of the last millennium/century, thyroid dysfunction, disorders of somatic and sexual development, and disturbances of fertility have been presented in several publications. In the paper, less known endocrine complications after HSCT published in the last years are discussed. Disorders of carbohydrate metabolism, post-transplant diabetes and insulin resistance are presented. Moreover, dyslipidemia, hypertension, and post-transplant bone metabolic disease are demonstrated/shown. The paper describes the etiopathogenesis, methods of prevention as well as treatment and the results of the treatment of these endocrine complications after HSCT. Moreover, actual recommendations for screening and prevention of endocrine complications in long-term HCT survivors are presented.

Since the 1980s, hematopoietic stem cell transplantation (HSCT) has been performed for malignant and non-malignant disorders leading to increasing numbers of long-term survivors. Some of them develop long-term posttransplantation complications, among them endocrine complications that arise many years after HSCT and demand to be treated till the end of patients´ life. In the paper "classical", observed several years after HSCT had been used as a treatment procedure, endocrine complications are discussed and the review of literature regarding this problem is presented. Thyroid dysfunction, disorders of somatic and sexual development are presented in details. Gonad dysfunction with the problem of fertility disturbances is reported. The paper presents the etiopathogenesis, methods of prevention, as well as treatment and the results of the treatment of these endocrine complications after HSCT. Moreover actual recommendations for screening and prevention of endocrine complications in long-term HCT survivors are presented.

Survivors of pediatric hematopoietic stem cell transplantation (HSCT) are known to be at risk of developing endocrine abnormalities, but occurrence of diabetes mellitus (DM) is a relatively recent observation. We present a 17.5-year-old girl with DM after high-dose radio- and chemotherapy followed by allogeneic HSCT for the treatment of acute lymphoblastic leukemia, diagnosed when she was 10 years old. In the posttransplantation period, multiple acute and chronic complications occurred. Among them, we observed graft versus host disease requiring corticosteroid therapy, pancreatitis and some endocrine complications like primary hypothyroidism, growth hormone deficiency and hypergonadotropic hypogonadism. DM with some components of metabolic syndrome-like insulin resistance, high arterial blood pressure and dyslipidemia developed during the first year after HSCT. Five years later, a trend towards increased requirement of insulin with deterioration in metabolic control of DM was observed, despite a normal level of C-peptide and negative diabetes autoantibodies. After the addition of metformin to continuous subcutaneous insulin infusion in the therapy of DM, an improvement in metabolic control was observed. Due to the possible mechanism of insulin resistance which is associated with impaired insulin receptors after HSCT procedure, metformin with insulin appears to be effective in the treatment of this type of diabetes., (Copyright © 2013 S. Karger AG, Basel.)

Introduction: Xenin is a newly discovered peptide in humans. The concentration of xenin in human plasma increases after meals and therefore this peptide is considered as a marker of satiety. The mechanism of xenin action in humans has not been thoroughly examined. MEDLINE database contains only few reports about the role of xenin in adults and none of them were performed in children., Aim of the Study: The aim of the study was to evaluate the concentration of xenin in children with energy balance disorders., Material and Methods: Plasma xenin concentration was measured in children with inflammatory bowel syndrome (IBD) (n=53; age 14±3 years) before, during and after treatment, obese children (n=26; age 14±2.8 years) during the OGGT test and in healthy children (n=10; age 15.7±2.2 years). Xenin was determined in the plasma using the radioimmunological method., Results: The mean plasma xenin concentration in the healthy children was 371±36 pg/ml. In the children with an acute phase of IBD the mean concentration of xenin was 367±96 pg/ml and an increase during the treatment to the mean value 399±55 pg/ml was noted. The highest mean value of xenin concentration (412±55 pg/ml) was found during early remission. In obese children, the mean concentration of xenin (198±69 pg/ml) was significantly lower as compared to children with IBD and to control (p<0.001 in both cases). The glucose load did not have any effect on xenin concentration in obese children., Conclusions: Xenin takes part in the regulation of energy balance in children.

Introduction: Craniopharyngioma can cause neurological, ophthalmological and endocrine signs and symptoms., Aim of the Study: Retrospective analysis of symptoms accompanying diagnosis of craniopharyngioma in children., Material and Methods: 10 children and adolescents, 3.75-14.08 years old, median 8.96, treated in our centre in the years 1992-2010, with diagnosis of craniopharyngioma, were included into the study. In the analysis clinical symptoms at the moment of diagnosis, before surgery treatment were taken into consideration. Data from medical histories, physical examination, auxological data, biochemical and hormonal parameters were analyzed., Results: Among 10 patients, 9 had headaches, 4 had experienced vomiting, 2 had symptoms of cranial hypertension, 6 had vision disorders, 8 had endocrine disorders. A decrease of growth rate was observed in 5 children (among 7 with previous anthropometric data), diabetes insipidus in 2, gain of body weight and delayed puberty in 1, and secondary hypothyroidism in 1 patient. Endocrine disorders appeared on average 13 months before diagnosis of craniopharyngioma. Among them the earliest was the decrease of growth rate - on average 23 months before the diagnosis, and the latest diabetes insipidus - 2 months before it. The most frequent symptom - headaches appeared 2 months before the diagnosis., Conclusions: 1. Endocrine symptoms are early symptoms of craniopharyngioma, which usually appear before neurological, and ophthalmological disorders. 2. Craniopharyngioma may be a cause of growth disorders in children and adolescents, therefore a detailed analysis of height data on growth charts in pediatric patients is very important for the diagnosis.

Chronic granulomatous disease (CGD) is phagocytic cell metabolic disorder resulting in recurrent infections and granuloma formation. This paper reports the favourable outcome of allogeneic transplantation in six high-risk CGD patients. The following donors were used: HLA-matched, related (two) and unrelated (three), and HLA-mismatched, unrelated (one). One patient was transplanted twice using the same sibling donor because of graft rejection at 6 months after reduced-intensity conditioning transplant (fludarabine and melphalan). Myeloablative conditioning regimen consisted of busulphan and cyclophosphamide. Stem cell source was unmanipulated bone marrow containing: 5.2 (2.6-6.5) × 10(8) nucleated cells, 3.8 (2.0-8.0) × 10(6) CD34+ cells and 45 (27-64) × 10(6) CD3+ cells per kilogramme. Graft-versus-host disease prophylaxis consisted of cyclosporine A and, for unrelated donors, short course of methotrexate and anti-T-lymphocyte globulin. Mean neutrophile and platelet engraftments were observed at day 22 (20-23) and day 20 (16-29), respectively. Pre-existing infections and inflammatory granulomas resolved. With the follow-up of 4-35 months (mean, 20 months), all patients are alive and well with full donor chimerism and normalized superoxide production.