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Background:The aim of the study was to compare the selected markers in children with and without partial clinical remission (CR) of newly diagnosed type 1 diabetes (T1D).Methods:The study group consisted of 186 patients (F/M; 87/99) at onset of T1D and 24 months of follow-up. Partial CR was defined as insulin requirement Results:Partial CR was observed in 115/186 (61.83%) of patients. At diagnosis body mass index standard deviation (BMI SDS) was higher among remitters than in non-remitters (p=0.0051) and remitters were younger (p=0.0029). In the follow-up a higher triglyceride concentration in non-remitters compared to remitters (p=0.0455) and a lower high density lipoprotein (HDL) cholesterol level (p=0.0119) were noticed.Conclusions:Younger age and higher BMI at diagnosis of T1D can predispose to partial CR in children. In patients with CR of T1D after 2 years of follow-up a lipid profile improvement is observed.

Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of β cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life.Zespół Wolframa jest to rzadka, uwarunkowana genetycznie choroba neurodegeneracyjna, charakteryzująca się współwystępowaniem cukrzycy insulinozależnej spowodowanej nieautoimmunologicznym zanikiem komórek β oraz zanikiem nerwu wzrokowego, znana również jako DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, deafness). U pacjentów z cukrzycą insulinozależną postępuje zanik nerwu wzrokowego w pierwszej dekadzie życia, moczówka prosta i głuchota sensoryczna w drugiej dekadzie, zaburzenia neurologiczne i w układzie moczowym w trzeciej dekadzie. Pacjenci z zespołem Wolframa zwykle umierają z powodu niewydolności oddechowej w przebiegu zaniku pnia mózgu w trzeciej lub na początku czwartej dekady życia. Autorzy przedstawiają przypadek dwóch sióstr z rozpoznanym zespołem Wolframa, u których występuje cukrzyca insulinozależna, zanik nerwu wzrokowego i zaburzenia urologiczne. Wczesne postawienie diagnozy i odpowiednia suplementacja hormonów może poprawić jakość życia tych pacjentów.

Background:Monogenic diabetes is a rare disease caused by single gene mutations. Maturity onset diabetes of the young (MODY) is one of the major forms of monogenic diabetes recognised in the paediatric population. To date, 13 genes have been related to MODY development. The aim of the study was to analyse the sequence of the BCL2-associated agonist of cell death (Methods:A group of 122 diabetic patients were recruited from the “Polish Registry for Paediatric and Adolescent Diabetes – nationwide genetic screening for monogenic diabetes” project. The molecular testing was performed by Sanger sequencing.Results:A total of 10 sequence variants of theConclusions:Among the analysed patients suspected of MODY, one possible pathogenic variant was identified in one patient; however, further confirmation is required for a certain identification.

Modified nanosilica-filled polypropylene composites were manufactured by in situ reactive processing. The key issue lies that amine functional groups of silica nanoparticles reacted with glycidyl methacrylate grafted ethylene/n-octene copolymer (EOC-g-GMA) in order to improve nanofiller dispersion and increase compatibility between silica and PP matrix. Taking the advantages of rubber-type grafted polymer (ethylene/n-octene copolymer) and reactive compatibilization with NH2-SiO2, a synergetic toughening effect was observed for the PP composites. Just very low concentrations of silica nanoparticles (2 wt %) and EOC-g-GMA (4 or 6 wt %) were sufficient to increase significantly notched impact strength and elongation at break of PP. On the contrary, tensile strength of the composites is slightly decreased. Improved dispersion of silica and increased compatibility between silica and PP matrix were observed in the presence of EOC-g-GMA. The crystalline features of PP have not been influenced greatly by addition of both modified silica and compatibilizer. However, the spherulite size of PP dramatically decreased in all composites. The thermal stability of the composites was significantly better compared to PP. Improved stiffness due to increased both storage and loss moduli indicating very good interfacial adhesion was observed.

It is hypothesized that CD4 + CD25 + FoxP3 + regulatory T cells (Tregs) can prevent destruction of pancreatic islets protecting from type 1 diabetes (DM1). Here we present results of one year follow-up of 12 DM1 children treated with autologous expanded ex vivo Tregs. Patients received either a single or double Tregs infusion up to the total dose of 30 × 10 6 /kg. No severe adverse effects were observed. The treatment did not impair post-immunization antibody responses. Tregs infusion was followed by increase in Tregs number in peripheral blood. Most of the patients responded to the therapy with increase in C-peptide levels (8/12 and 4/6 after the first and the second dose, respectively). Tregs administration resulted also in lower requirement for exogenous insulin (8/12 treated patients versus 2/10 untreated controls in remission) with two children completely insulin independent at one year. Repetitive administration of Tregs is safe and can prolong survival of β-cells in DM1 (registration: ISRCTN06128462).

PURPOSE Mutations in the glucokinase (GCK) gene are associated with altered blood glucose and lipid concentrations. Our aim was to assess the effects on HbA1c and serum lipid levels of single nucleotide polymorphisms (SNPs) in 2 genes encoding proteins that interact with glucokinase: glucose-6-phospatase catalytic subunit 2 (G6PC2) and glucokinase regulatory protein (GCKR). METHODS The study group included 129 children with GCK-MODY from the Polish Registry of Monogenic Diabetes and 395 with type 1 diabetes (T1DM), in whom we genotyped 2 SNPs in G6PC2 (rs560887) and GCKR (rs1260326). Lipid concentrations were assessed in fasting serum samples. RESULTS Total and HDL cholesterol concentrations were significantly lower in the GCK-MODY group than in patients with T1DM (167.5±32.5 mg/dl vs. 174.4±31.1 mg/dl, p=0.0435 and 48.42±14.3 mg/dl vs. 58.7±12.7 mg/dl, p

The aim of our study was to characterize the association of clinical and genetic risk factors such as: ACE genotype (rs17997552, rs1800764, rs4459609) and RGS2 (rs2746071) with the development of hypertension (HT) and non-dipping phenomenon in patients with type 1 diabetes mellitus (T1DM). A total of 238 adolescents and young adults with T1DM—103 females and 135 males, aged 8–30 years (mean 17.35 ± 5.2) with diabetes duration 1–26 years (mean 7.72 ± 6.2), with mean HbA1c (IFCC) 58 ± 15 mmol/mmol—were subjected to 24-h ambulatory blood pressure measurements (ABPM). The results of the ABPM were analyzed in association with the polymorphisms of ACE and RGS2 genes and clinical data of patients. HT was recognized in 65 (27 %) and non-dipping in 111 (46.63 %) patients. In the multivariate analysis of factors predisposing to HT, the variables that remained significant were the following: male sex (OR 1.62; 95 % CI 1.171–2.250), non-dipping (OR 1.40; 95 % CI 1.03–1.90) and total cholesterol level (OR 1.01; 95 % CI 1.005–1.021). The only factor influencing non-dipping was the duration of diabetes—OR 1.09 (95 % CI 1.04–1.14). The patients displaying non-dipping have a twice increased risk of development of HT (OR 2.17; 95 % CI 1.21–3.89). There was no association between disturbances of blood pressure (BP) and genotypes of ACE: rs17997552, rs1800764, rs4459609 and RGS2: rs2746071. Clinical rather than genetic risk factors seem to be connected with BP disturbances in young patients with T1DM. Although we have identified representative groups of HT versus non-HT and dipping versus non-dipping subjects, the effect of genetic predisposition to the development of higher BP is too weak to be statistically significant. Electronic supplementary material The online version of this article (doi:10.1007/s00592-014-0568-0) contains supplementary material, which is available to authorized users.

Estimated monogenic diabetes (MD) prevalence increases as screening programs proceeds.To estimate prevalence of MD among Polish children.Patients and their family members suspected of suffering from MD (defined as causative mutation in one of the Maturity Onset Diabetes of the Young or permanent neonatal diabetes mellitus genes) were recruited between January 2005 and December 2015.Nationwide prevalence was estimated based on data from 6 administrative provinces (out of 16 in Poland) with high referral rates of patients (10 per 100 000 children).During the analysis, probands from 322 of 788 screened families tested positive yielding a total of 409 children and 299 family members with MD. An average of 70 probands/year were referred. Screening success rate reached 40% over the study period. We estimated the prevalence of MD in 2015 to 7.52/100 000 children (1 in 13 000). The most frequent MODY in this group was GCK- MODY (6.88/100 000). The prevalence estimates increased nearly 2-fold since our report in 2011 (4.4/100 000). However, the figure reached a plateau because of screening saturation in 2014 what was also proven by lowering of the median age of diagnosis lowered in time (R = -0.73, P = .0172) along with shortening of the delay between clinical and genetic diagnosis (R = -0.65, P = .0417).The screening for childhood MD in Poland reached a plateau phase after 10 years showing a stable prevalence estimate. The true frequency of MD in the overall population may be higher given later onset of reportedly more frequent types of MD than GCK -MODY.

Objective Bilirubin is a potent antioxidant, and serum total bilirubin (STB) concentrations correlate negatively with cardiovascular risk. In adult diabetic patients and in healthy adults, a negative correlation between STB and glycated hemoglobin (HbA1c) has been reported. We investigated whether there is such an association in children and adolescents with type 1 diabetes mellitus. Methods The study group included 224 patients with type 1 diabetes duration of more than 12 months. Patients with suspected or confirmed hemolytic anemia or liver dysfunction were excluded. Results A statistically significant negative correlation was found between STB and HbA1c (R = −0.15; p = 0.024), which retained its significance in multivariate analysis (β = −0.18, p = 0.005). Patients' age and daily insulin dose were positively correlated with HbA1c levels, whereas other variables included in the multivariate analysis [sex, diabetes duration, insulin regimen, C-peptide, hemoglobin, mean corpuscular hemoglobin concentration (MCHC), alanine transaminase (ALT), and aspartate transaminase (AST)] did not correlate with HbA1c. The mean HbA1c level in patients with STB >1.2 mg/dL (>21 µmol/L; the threshold for clinical diagnosis of Gilbert's syndrome) was lower than in patients with STB ≤1.2 mg/dL (≤21 µmol/L), and the mean difference was 0.63% (6.9 mmol/mol; 95% CI: 0.11–1.16%). Conclusions These results show that in young patients with type 1 diabetes, STB concentration is an independent factor inversely associated with HbA1c level. Further studies should investigate the background and long-term effects of this association.

Familial hypercholesterolemia (FH) is a genetic disease that causes accelerated atherosclerosis and a high risk of occurrence of cardiovascular events. Atherosclerosis in the course of FH develops insidiously and reaches an advanced stage before the onset of clinical symptoms. Homozygous form of FH occurs in the Caucasian population with a frequency of one per million, while the heterozygous form of FH in European countries applies on average in 1 person per 500. FH diagnosis is an indication to take the whole family under medical care, education, and to introduce dietary and pharmacological treatment. The aim of treatment in children with FH is to achieve more than 50% reduction in LDL level or to achieve LDL-cholesterol concentrations below 130 mg/dl and below 100 mg/dl in diabetic children. The effectiveness of low fat diet in the treatment of FH is limited. The medicaments of first choice in the treatment of FH are statins. After initiation of therapy in children, cholesterol levels and the side effects of therapy and its impact on children's development, nutritional status, degree of sexual maturity should be routinely evaluated. Familial hypercholesterolemia is a relatively common metabolic disorder, but still quite rarely recognized and not properly treated. Early diagnosis and appropriate treatment of FH in children and adolescents can significantly reduce the risk of cardiovascular disease and sudden death in adults. The purpose of these recommendations is to describe the current epidemiological situation in Poland, to establish the guidelines for identifying FH in children and adolescents and to enable the introduction of effective treatment. This document is a supplement to the position of Lipid Expert Forum on FH in adults.

1Katedra i Klinika Pediatrii, Diabetologii i Endokrynologii, Gdanski Uniwersytet Medyczny, Gdansk 2Klinika Pediatrii, Endokrynologii, Diabetologii, Chorob Metabolicznych i Kardiologii Wieku Rozwojowego, Pomorski Uniwersytet Medyczny, Szczecin 3Klinika Pediatrii, Endokrynologii i Diabetologii Dzieciecej, Śląski Uniwersytet Medyczny, Katowice 4Klinika Patologii Noworodka, Instytut Pediatrii, Centrum Zdrowia Dziecka, Warszawa 5Instytut Żywności i Żywienia, Warszawa 6I Katedra i Klinika Kardiologii, Warszawski Uniwersytet Medyczny, Warszawa 7Wydzial Medyczny, Uniwersytet Rzeszowski, Rzeszow 8Klinika Pediatrii, Hematologii, Onkologii i Diabetologii, Łodzki Uniwersytet Medyczny, Łodź 9I Katedra i Klinika Kardiologii, Gdanski Uniwersytet Medyczny, Gdansk 10Katedra i Klinika Transplantacji Szpiku, Onkologii i Hematologii Dzieciecej, Wroclawski Uniwersytet Medyczny, Wroclaw 11Klinika Gastroenterologii, Hepatologii i Żywienia Dzieci, Centrum Zdrowia Dziecka, Warszawa 12Zaklad Genetyki, Instytut Psychiatrii i Neurologii, Warszawa 13Zaklad Prewencji i Dydaktyki, Katedra Nadciśnienia Tetniczego i Diabetologii, Gdanski Uniwersytet Medyczny, Gdansk 14Katedra i Zaklad Biologii i Genetyki, Gdanski Uniwersytet Medyczny, Gdansk 15Katedra Nefrologii i Nadciśnienia Tetniczego, Łodzki Uniwersytet Medyczny, Łodź

Objectives The aim of this study is to examine the impact of a mother's depressive symptoms on the risk of hospital admission of her child due to severe hypoglycemia or diabetic ketoacidosis. Materials and methods One hundred sixty-six mothers of children with type 1 diabetes (T1DM) were evaluated using the Hamilton Depression Rating Scale (HDRS). All of the children were studied prospectively for acute diabetic complications. The optimal thresholds of HDRS mother's scores for prediction of the risk of child hospitalization were identified using the Receiver Operating Characteristic curve analysis. The time to hospital admissions were compared using the log-rank test for univariate and Cox's proportional hazard models for multivariate analysis of risk factors for hospitalization. Results At study entry age, diabetes duration and glycated hemoglobin (HbA1c) of the children equaled 13.5 ± 2.6 years, 4.1 ± 1.9 years and 7.8 ± 1.7%, respectively. Throughout the observation period 56 patients required at least one hospitalization due to acute complications. Median time of observation and time to the hospital admission were 46.3 [interquartile range (IQR) 32.2–57.7] and 13.2 (IQR 6.6–20.0) months, respectively. The best cutoff value of maternal depression in HDRS predictive for the risk of child hospitalization was above 12 points. The hazard ratio for hospitalization offered by the cutoff score for mother's depressive symptoms above threshold was 2.73 (95% confidence interval: 1.39–5.36). Conclusion Children with T1DM whose mothers show high level of depressive symptoms are at an elevated risk for hospitalization due to acute diabetic complication.

Objective: To investigate if L-thyroxine (T4) treatment may influence the clinical course of autoimmune thyroiditis (AIT) or prevent progression to subclinical or overt hypothyroidism in euthyroid nongoitrous pediatric patients with type 1 diabetes mellitus (T1DM) and AIT. Methods: The study was performed in four Polish pediatric diabetes centers. Of 330 children with T1DM and AIT followed between 2008 and 2012, 101 received L-T4 and 160 underwent clinical observation for 24 months. Thyroid stimulating hormone (TSH), free T4 (fT4), anti thyroid peroxidase antibody (anti-TPO), anti thyroglobulin antibody (anti-TG), glycosylated hemoglobin (HbA1c) levels, and lipid profile were assessed in all patients. Ultrasonographic evaluation was also performed in all children at each examination. Results: Patients treated with thyroid hormones had higher TSH levels (3.99; interquantile 3.5 to 4.52 vs. 2.09 mIU/L; interquantile 1.55 to 3.06; p

Summary: The effect of silica containing immobilized nanosilver (SiO2 − Ag) on the structure, mechanical and bactericidal properties of wood-filled high density polyethylene composites compounded in a co-rotating twin-screw extruder and then injection molded was investigated. Maleated high density polyethylene (MHDPE) was used to improve mechanical properties, while spherical nanosilica containing immobilized nanosilver modified bactericidal properties of wood-filled HDPE composites. It was found that the addition of silica in the presence of MHDPE improves adhesion between HDPE and wood fiber. DMTA measurements confirmed these observations, showing toughening effect in the presence of SiO2 − Ag and MHDPE. The gradual enhancement in tensile and flexural strength, elongation and Charpy impact of the wood-filled HDPE composites containing MHDPE and SiO2 − Ag was observed. Nanosilica practically did not affect tensile and flexural moduli of the wood-filled HDPE composites, pointing to a toughing effect. Wood-filled HDPE composites modified with nanosilica containing immobilized nanosilver were found to be active against Escherichia coli, Staphylococcus aureus and Salmonella typhimurium whereas unmodified (without SiO2 − Ag) did not show this efficacy. Thus wood-filled HDPE composites containing SiO2 − Ag are effective bactericidal materials.

The aim: of the study was to investigate clinical and genetic determinants of arterial stiffness in children and adolescents with type 1 diabetes mellitus. Material and Methods: 122 patients (mean age: 16.0±2.35 years), with an average diabetes duration of 5.0 years and without evidence of arterial hypertension were recruited. Ambulatory arterial stiffness index (AASI) was assessed with 24-h automatic blood pressure monitoring. Body weight, height, HbA1c and plasma lipids were measured. Angiotensin I converting enzyme (ACE) gene insertion (I)/deletion (D) polymorphism was analysed. Results: Mean AASI equalled 0.22±0.20 and showed significant, positive correlation with age and BMI-SDS. No association was found between AASI and gender, diabetes duration, daily insulin dose, HbA 1c and blood lipids concentration. AASI was higher in non-dippers compared to dippers (0.26±0.18 vs. 0.19±0.18, respectively; p=0.04). In a multivariate model AASI was significantly associated with II homozygosity of ACE gene (p=0.007). Conclusions: In type 1 diabetic children and adolescents AASI is correlated with age and BMI-SDS. Non-dipping status and I-allele were associated with higher arterial stiffness.

Low-density polyethylene/spherical silica (LDPE/SGS) nanocomposites, containing 1, 2, and 6 wt % neat and modified (having amine functional groups) silica nanoparticles, were prepared by melt mixing using a twin-screw corotating extruder. To improve the dispersion degree of the nanoparticles, glicydyl methacrylate grafted ethylene/n-octene copolymer (EOR-g-GMA) containing 0.6 wt % GMA was used as a compatibilizer. It was observed that mechanical properties such as tensile strength, Young's modulus, and impact strength increase and are mainly affected by the loading and size of silica nanoparticles as well as by the EOR-g-GMA. The addition of modified silica and EOR-g-GMA resulted in a further enhancement of mechanical properties due to the improved interfacial adhesion. Storage and loss modulus values of prepared nanocomposites measured by dynamic-mechanical thermal analysis were sensitive to the microstructure of the nanocomposites. Higher storage and loss modulus are evidence that the nanocomposites became stiffer. By adding the modified silica and EOR-g-GMA further increase in storage and loss modulus were observed due to the better dispersion of silica nanoparticles and increased compatibility between silica and the LDPE matrix. Both permitted a much more efficient transfer of stress from the polymer matrix to the silica nanoparticles. The improved barrier properties of all nanocomposites can also be mentioned as a positive effect. © 2012 Wiley Periodicals, Inc. J Appl Polym Sci, 2012

Summary — Polyamide nanocomposites with different octakis(dimethylsiloxy, 3-glycidoxypropyl)octasilsesquioxanes (POSS) contents (0.5, 2, 4 wt. %) were obtained during melt blending. SEM results showed that POSS are uniformly dispersed in polyamide 6 matrix (Fig. 1). FT-IR and DSC analysis indicated that the addition of POSS promotes modifications of the polyamide crystal structure, which consist of the progressive development of crystals and significant increase in the glass transition temperature, crystallization temperature and the crystallization rate of the polyamide 6 (Figs. 2 and 3, Tab. 1). Tensile tests, performed on dried samples, revealed that strength and elongation at break were appreciably modified by the presence of POSS (Fig. 4, Tab. 2). Compared with the neat polyamide 6, the impact strength of PA 6/POSS composites is enhanced (Tab. 2). Dynamic mechanical thermal analysis (DMTA) demonstrated that both the storage modulus (G’) and relaxation temperatures (T, T and T), especially glass transition temperature (T )o f the PA6/POSS composites significantly increased (Fig. 5, Tab. 3).

Summary Introduction Confirmation of monogenic diabetes caused by glucokinase mutations (GCK-MODY) allows pharmacogenetic intervention in the form of insulin discontinuation. This is especially important among paediatric and young adult populations where GCK-MODY is most prevalent. Methods The study evaluated the utility of lipid parameters in screening for patients with GCK-MODY. Eighty-nine children with type 1 diabetes and 68 with GCK-MODY were screened for triglyceride (TG), total and HDL cholesterol levels. Standardization against a control group of 171 healthy children was applied to eliminate the effect of development. Clinical applicability and cut-off value were evaluated in all available patients with GCK-MODY (n = 148), hepatocyte nuclear factor 1-alpha-MODY (HNF1A MODY) (n = 37) or type 1 diabetes (n = 221). Results Lower lipid parameter values were observed in GCK-MODY than in patients with type 1 diabetes. Standard deviation scores were −0·22 ± 2·24 vs 1·31 ± 2·17 for HDL cholesterol (P

Mianowska B, Szadkowska A, Pietrzak I, Zmyslowska A, Wegner O, Tomczonek J, Bodalski J, Mlynarski W. Immunogenicity of different brands of human insulin and rapid-acting insulin analogs in insulin-naive children with type 1 diabetes. Aims: To determine (i) whether insulin preparations produced by three companies induce the same immune responses in insulin-naive children with type 1 diabetes (T1DM); (ii) if switching from human insulin to rapid-acting insulin analogs influences this immune response; and (iii) if different insulin brands produce different clinical results during the first 2 yr after T1DM diagnosis. Methods: Insulin antibodies (IA) were measured for 140 patients aged 1.4–17.6 yr. Regular human insulin, neutral protamine Hagedorn (NPH) human insulin, and rapid-acting insulin analogs (lispro or aspart) taken by the patients were produced by one of three companies: Bioton, Poland (A), Eli Lilly, USA (B) and NovoNordisk, Denmark (C). Results: Positive IA levels were found in 112 patients (80.0%) at baseline and in 137 (97.9%) at 6 and at 24 months after T1DM diagnosis. There was no difference in IA levels among patients taking insulin preparations produced by different companies at 6 months (mean ± SD, A 27.8 ± 15.7%; B 25.3 ± 15.4%; C 24.5 ± 14.2; p = 0.54) or at 24 months (A 25.6 ± 17.8%; B29.6 ± 17.0%; C 26.2 ± 17.0%; p = 0.52); HbA1c and daily insulin dose did not differ significantly either. After 24 months, IA levels were similar for those who had used human insulin (mean ± SD, 25.7 ± 17.2%) and for those that had added rapid-acting analogs (28.1 ± 17.3%, p = 0.41). Conclusions: Three brands of insulin preparations did not differ with respect to immunogenicity. Rapid-acting analogs did not increase IA levels in patients previously treated with human insulin only. Patients using insulin preparations of different brands did not differ with respect to daily insulin dose or HbA1c.

Introduction: Wolfram syndrome (WFS) is the most frequent syndromic form of monogenic diabetes coexisting with optic atrophy and many other disorders. The aim of this study was to estimate the prevalence of Wolfram syndrome among children with diabetes in Poland. Material and methods: These calculations were performed among Polish diabetic children, aged 0–18 years, from three administrative regions between January 2005 and December 2011. Epidemiological data was obtained by matching the results from the EURO-WABBPoland Project and the PolPeDiab Registry. Results: Throughout the study period, we confirmed genetic diagnosis of Wolfram syndrome in 13 patients from Poland. Three patients originated from the studied regions with complete epidemiological data on paediatric diabetes. The total number of patients with diagnosed diabetes in the study equalled 2,568 cases. The prevalence of Wolfram syndrome among Polish children with diabetes is 0.12% (95% Confidence Interval 0.04–0.34%). Conclusions: We estimate that Wolfram syndrome is 26 to 35 times less frequent than monogenic diabetes (MODY and neonatal diabetes) in the Polish paediatric population. (Endokrynol Pol 2014; 65 (4): 295–297)

Aims/hypothesis We evaluated seasonal HbA1c changes in children with type 1 diabetes and its relation with measures of weather conditions. Methods HbA1c changes over more than 3 years were evaluated in type 1 diabetic patients who were younger than 18 years and had diabetes duration of more than 12 months, and correlated with measures of weather conditions (ambient temperature, hours of sunshine and solar irradiance). After comparison of autocorrelation patterns, patterns of metabolic control and meteorological data were evaluated using Spearman rank correlation. Results A total of 3,935 HbA1c measurements in 589 school (≥7 years) and 88 preschool (

The effects of reactive modifiers with anhydride or oxazoline functional groups on the morphology and the mechanical properties of polyolefins waste based blends prepared by melt blending have been studied. The materials were first subjected to morphological analyses by scanning electron microscopy (SEM). The modifiers act as compatibilizers in the structurally heterogeneous blends. Tensile tests showed that the blends had significantly improved elongation and impact strength over their unmodified analogues. Improvements in tensile and impact properties depend on the blend composition and the modifier used.

Since insulin resistance is genetically determined and observed in type 1 diabetes, the study was designed to elucidate an involvement of Ala 12 Pro PPARg2 gene polymorphism in residual C-peptide secretion and BMI variation in children with type 1 diabetes.In 103 patients with type 1 diabetes genetic analysis of PPARg2 polymorphism, C-peptide measurements and evaluation of BMI and clinical parameters were performed. Control group consisted of 109 healthy subjects.In diabetic patients, only three individuals exhibited Ala 12 Ala genotype (2.9%) and 29 patients were heterozygous Ala 12 Pro (28.2%). Interestingly, Ala12+ variants were associated with higher C-peptide levels in 6 th , 12 th and 24 th months after the onset than Pro 12 Pro genotype (0.39±0.24 pmol/mL vs. 0.22±0.14 pmol/mL, P=0.007 and 0.19±0.09 vs. 0.11±0.07, P=0.01 and 0.13±0.09 vs. 0.07±0.05, P=0.021, respectively). Similarly, C-peptide was also significantly increased in patients with history of type 2 diabetes in the first-degree relatives. The observation was even more evident when Ala12+ variants were taken together with family history of type 2 diabetes. Besides, in 24 th and 36 th months after the onset, Ala12+ variants revealed to be associated with higher BMI normalized by age and sex as compared to Pro 12 Pro (0.557±0.84 vs. -0.119±0.73, P=0.001 and 0.589±0.919 vs. 0.066±0.630, P=0.016, respectively).Thus, it is likely that PPARg2 gene polymorphism and/or the genetically determined insulin resistance may be associated with residual C-peptide secretion and involve excessive BMI in type 1 diabetes.Wprowadzenie i cel pracy. Z uwagi na występowanie w cukrzycy typu 1 (T1D) zjawiska insulinooporności oraz możliwość jej genetycznego uwarunkowania celem pracy była ocena wpływu polimorfizmu Ala 12 Pro genu PPARg2 na resztkową insulinosekrecję mierzoną stężeniem peptydu C oraz zmiany wartości indeks BMI u dzieci z cukrzycą typu 1. Materiał i metody. W grupie 103 pacjentów z T1D została przeprowadzona analiza genetyczna polimorfizmu genu PPARg2, pomiary stężenia peptydu C oraz ocena indeksu BMI i parametrów klinicznych. Grupa kontrolna obejmowała 109 zdrowe osoby. Wyniki. U pacjentów z T1D jedynie 3 dzieci posiadało genotyp Ala 12 Ala (2.9%), podczas gdy 29 pacjentów było heterozygotami Ala 12 Pro (28.2%). Interesujące, że warianty Ala12+ były związane z wyższym stężeniem peptydu C w 6, 12 oraz 24 miesiącu trwania choroby w porównaniu z genotypem Pro 12 Pro (0.39±0.24 pmol/mL vs. 0.22±0.14 pmol/mL, P=0.007 i 0.19±0.09 vs. 0.11±0.07, P=0.01 oraz 0.13±0.09 vs. 0.07±0.05, P=0.021, odpowiednio). Podobnie stężenie peptydu C było istotnie wyższe u pacjentów z dodatnim wywiadem w kierunku cukrzycy typu 2 u krewnych pierwszego stopnia. Obserwacja ta była jeszcze bardziej wyraźna, gdy warianty Ala12 + były oceniane łącznie z rodzinnym wywiadem cukrzycy typu 2. Ponadto pacjenci, u których stwierdzono warianty Ala12+ charakteryzowali się w 24 i 36 miesiącu trwania cukrzycy wyższym indeksem BMI znormalizowanym pod względem płci i wieku w porównaniu do nosicieli Pro 12 Pro (0.557±0.84 vs. -0.119±0.73, P=0.001 i 0.589±0.919 vs. 0.066±0.630, P=0.016, odpowiednio). Wnioski. Wydaje się prawdopodobne, że polimorfizm genu PPARg2 i/lub genetycznie uwarunkowana insulinooporność mogą być związane z resztkową insulinosekrecją oraz wzrostem BMI w cukrzycy typu 1 u dzieci.

Type 1 diabetes is a chronic disease associated with the risk of acute and chronic complications. The patients with type 1 diabetes require constant monitoring in a diabetes outpatient clinic, regardless of their age, and the cessation of diabetes care may result in deterioration of metabolic control and earlier development of chronic complications. When the children grow up and reach 18 years of age, they must transfer from the custody of the pediatric outpatient clinic to the care of adult diabetes center. This is a very important time in the life of a young patient. When the transition is well planned, it can help young adults to live with diabetes independently. The paper presents the differences between pediatric and adult diabetes care and factors influencing diabetes control during transition process. In the article we discuss programs implemented in other countries to help young people with diabetes during transition process. Moreover the paper also demonstrates the recommendations of some scientific societies for the optimal organization of the transition to prevent a deterioration of metabolic control of diabetes.DMT1- type 1 diabetes mellitus, HbA1c - glycosylated hemoglobin, PTD - Polish Diabetes Association, ADA - America Diabetes Association, SEARCH - SEARCH for Diabetes in Youth study, NICE - National Institute for Excellence.Cukrzyca typu 1 jest chorobą przewlekłą, związaną z ryzykiem wystąpienia ostrych i przewlekłych powikłań. Pacjenci wymagają zatem stałej kontroli w poradni specjalistycznej niezależnie od swojego wieku, a zaprzestanie opieki diabetologicznej skutkuje pogorszeniem wyrównania metabolicznego cukrzycy i wcześniejszym rozwojem jej przewlekłych powikłań. Kiedy dziecko dorasta i osiąga 18 rok życia, musi przejść spod opieki poradni pediatrycznej pod opiekę poradni internistycznej. Jest to bardzo ważny moment w życiu młodego pacjenta. Jeśli proces przejścia zostanie dobrze zaplanowany, może pomóc młodym dorosłym w samodzielnym życiu z cukrzycą. W pracy przedstawiono różnice między opieką pediatryczną i internistyczną oraz czynniki wpływające na wyrównanie cukrzycy w okresie zmiany poradni. Ponadto opisano wdrażane w innych krajach programy ułatwiające młodym osobom z cukrzycą proces transmisji. Zaprezentowano również zalecenia różnych towarzystw naukowych dotyczące przygotowania i organizacji procesu przejścia, aby mógł on przebiegać w sposób optymalny i nie wiązał się z pogorszeniem kontroli metabolicznej cukrzycy.Skróty: DMT1 – cukrzyca typu 1, HbA1c – hemoglobina glikowana, PTD – Polskie Towarzystwo Diabetologiczne, ADA – Amerykańskie Towarzystwo Diabetologiczne, SEARCH – SEARCH for Diabetes in Youth study, NICE – National Institute for Excellence.

In the recent years there has been a significant increase in the incidence of the type 1 diabetes mellitus. Therefore, numerous studies are underway to evaluate the possible factors underlying this trend. Some studies suggest that better sanitary conditions and lack of contact with microorganisms might be important, thus increasing the risk of disease in firstborns. Moreover, siblings could play an important role in the transmission of pathogens, which, by stimulating the immune system, may prevent the development of atopic and autoimmune diseases including such as type 1 diabetes. Current data, however, are still inconclusive.The aim of the study was to evaluate the effect of having siblings on the incidence of type 1 diabetes among children and adults.A group of 469 patients with type 1 diabetes was selected. The study population was composed of 245 adults and 224 youth patients. Information from Outpatient Diabetologic Departments database was gathered. Data such as age at the diagnosis of diabetes, sex of siblings, number and birth order were analyzed.In the studied population, 4.5% were only children, and 30.3% patients came from large families. In the group of type 1 diabetic patients 39.7% were firstborns and this proportion was comparable to the group of healthy subject. The highest proportion of firstborns was noted in the group that was diagnosed after 18 years of age (45,1%) compared to the group that was diagnosed between 10 and 14 (29,1%) (p0.05). Type 1 diabetic patients that were not firstborns much more often had older siblings of the opposite sex than the same sex.he firstborns in the population of type 1 diabetes from the Łódz region did not outnumber the healthy subjects. Significantly higher proportion of firstborns in the group that was diagnosed after 18 years of age compared to the group that was diagnosed between 10 an 14 years was noted.Wprowadzenie. W ostatnich latach nastąpił znaczny wzrost zachorowalności na cukrzycę typu 1. W związku z tym trwają liczne badania oceniające prawdopodobne przyczyny tego trendu. Niektóre z nich sugerują, że lepsze warunki higieniczne i brak kontaktu z mikroorganizmami mogą mieć znaczenie w tym zakresie, zwiększając ryzyko zachorowania u osób pierworodnych. Ponadto rodzeństwo może odgrywać istotną rolę w przekazywaniu patogenów, które poprzez stymulację układu immunologicznego mogą zapobiegać rozwojowi chorób atopowych i autoimmunologicznych, w tym takich jak np. cukrzyca typu 1. Cel pracy. Celem pracy była ocena wpływu posiadania rodzeństwa na zachorowalność na cukrzycę typu 1 wśród dzieci i dorosłych. Materiał i metody. Do badania włączono grupę 469 pacjentów z DM1, w tym 245 dorosłych oraz 224 dzieci. Dane zgromadzono na podstawie informacji zawartych w bazach danych Poradni Diabetologicznych. Analizie poddano wiek zachorowania na cukrzycę, płeć posiadanego rodzeństwa, liczbę oraz kolejność urodzenia. Wyniki. W analizowanej populacji 4,5% stanowili jedynacy, a 30,3% pacjentów pochodziło z rodzin wielodzietnych. W ocenianej grupie chorych na cukrzycę osoby pierworodne stanowiły 39,7% i odsetek ten był porównywalny do grupy osób zdrowych. Największy odsetek osób pierworodnych znalazł się w grupie pacjentów, którzy zachorowali w wieku powyżej 18 roku życia (45,1%), najmniejszy zaś w grupie pomiędzy 10 a 14 rokiem życia (29,1%) (p0.05). Chorzy na cukrzycę typu 1 niebędący osobami pierworodnymi częściej posiadali starsze rodzeństwo o płci odmiennej. Wnioski. W grupie osób chorujących na cukrzycę typu 1 z obszaru województwa łódzkiego nie zaobserwowano przewagi liczebnej osób pierworodnych w porównaniu do grupy osób zdrowych. Zanotowano istotnie wyższy odsetek osób pierworodnych w grupie, która zachorowała po 18 roku życia w porównaniu do grupy, która zachorowała pomiędzy 10 a 14 rokiem życia.

We investigated whether in young children with inadequately controlled type 1 diabetes and technical problems with continuous subcutaneous infusion of insulin at 100 units/mL the switch to insulin diluted to 10 units/mL (U10) can limit technical problems and improve glycemic control.Diluted U10 insulin was started in three children 3.8, 3.2, and 1.3 years old with a hemoglobin A1c (HbA1c) level (mean±SD) of 8.1±0.17% (65±1.7 mmol/mol) and insulin dose of 8.80±2.93 units/day. Patients were evaluated with continuous glucose monitoring (iPro™2; Medtronic Minimed, Northridge, CA) and a quality of life questionnaire (PedsQL™; www.pedsql.org/ ) and surveyed for pump-related problems at baseline and after 3 and 9 months of U10 insulin therapy.Continuous glucose monitoring records showed that glycemic variability assessed by SD and M100 decreased significantly (P=0.0085 and P=0.0482, respectively). HbA1c levels dropped to 7.3±1.00% (56±11.0 mmol/mol) after 3 months and to 6.7±0.55% (50±6.1 mmol/mol) after 9 months (P=0.12). Technical difficulties were minimized.These results suggest that the use of U10 insulin decreases glycemic variability and improves hampered pump therapy in young children with inadequately controlled type 1 diabetes.

Much evidence has shown that pregnancies in women with preexisting diabetes are affected by an increased risk of maternal and fetal adverse outcomes, probably linked to poor glycemic control. Despite great progress in medical care, the rate of stillbirths remains much higher in diabetes patients than in the general population. Recent technological advances in the field of glucose monitoring and noninvasive fetal heart rate monitoring made it possible to observe the fetal-maternal dependencies in a continuous manner.Fourteen type 1 diabetes patients were involved into the study and fitted with a blinded continuous glucose monitoring (CGM) recorder. Fetal electrocardiogram data were recorded using the Monica AN24™ device (Monica Healthcare Ltd., Nottingham, United Kingdom), the recordings of which were matched with CGM data. Statistical analysis was performed using a generalized mixed-effect logistic regression to account for individual factors.The mean number of paired data points per patient was 254±106, representing an observation period of 21.2±8.8 h. Mean glycemia equaled 5.64±0.68 mmol/L, and mean fetal heart rate was 135±6 beats/min. Higher glycemia correlated with fetal heart rate (R=0.32; P0.0001) and was associated with higher odds of the fetus developing small accelerations (odds ratio=1.05; 95% confidence interval, 1.00-1.10; P=0.04).Elevated maternal glycemia of mothers with diabetes is associated with accelerations of fetal heart rate.

Background Platelet hyperreactivity is a factor which contributes towards increased risk of cardiovascular events in adults with type 2 diabetes (T2DM). However, little is known about platelets’ disturbances among children with type 1 diabetes (T1DM). The aim of the study was to investigate whether platelets’ morphology or function are altered in children with type 1 diabetes, potentially predisposing them to cardiovascular events in the future. Methods The study group consisted of 389 children with T1DM during the 2008–2010 period. Patients with acute diabetes complications and ongoing infections were excluded from the study. An equinumerous (N = 389), age and sex-matched control group was assembled from children undergoing routine, minor surgical procedures in the same hospital. Platelet: count (PLT), mean volume (MPV), distribution width (PDW) and platelet large cell ratio (P-LCR) as well as HbA1c levels were measured. For statistical analysis we used Chi-square tests, the student’s t-test, one-way analysis of variance (ANOVA), the Pearson’s correlation coefficient and linear regression models in order to adjust for covariates. Results MPV, PDW and P-LCR were significantly higher among children with diabetes in comparison with the control group (MPV 10.47+/−0.85 fL vs 10.23+/−0.94 fL, p = 0.0007; PDW 12.09+/−1.80% vs 11.66+/−1.90%, p = 0.0032; P-LCR 28.21+/−6.15% vs 26.29+/−6.38%, p

[b]Introduction and objective[/b]. The aim of the study was to evaluate the influence of age and gender on the prevalence of overweight and obesity, body composition and fatty tissue distribution in young adults with type 1 diabetes. [b]Material and methods[/b]. 197 patients with type 1 diabetes aged 20–40 years participated in the study. The control group consisted of 138 healthy adults. Body weight, height, waist and hip circumferences were measured. Analysis of body mass composition was performed using the bioimpedance. Study groups were stratified into cohorts aged

Wolfram syndrome (WFS), caused by recessive mutations in WFS1 , is characterized by neurodegeneration due to apoptosis provoked by increased endothelial reticulum stress (1). Currently, it is incurable and leads to a premature death at an average age of 35 years (2). Despite initial success with spectroscopy-based studies (3), there is a lack of repeatable and robust markers for monitoring the clinical course of WFS. The aim of our study was to evaluate retinal parameters, measured with optical coherence tomography, as biomarkers of WFS progression. The Ethics Committee of the Medical University of Lodz approved the project (RNN/140/13/KE). Optical coherence tomography was performed after mydriasis using the Topcon 3D OCT-2000 system. Average retinal thickness and central thickness were measured using three-dimensional disc and macula scans covering a retinal area of 6 × 6 mm. The study was performed between August 2013 and April 2014. Two cohorts were enrolled: a pediatric/adolescent group and an adult one. The first consisted of patients with genetically confirmed WFS (median age 17.25 [interquartile range …

Despite the progress in diagnosis and treatment of type 1 diabetes, diabetic ketoacidosis (DKA) is still a serious clinical problem. The aim of the study was too describe the epidemiology and clinical characteristic of DKA in children and adolescents with type 1 diabetes.Medical records of 650 patients with type 1 diabetes who were under care of the Outpatient Clinic for Diabetic Children of the Medical University of Lodz from 1st January 2007 till 31 December 2009 were analysed.101 cases of DKA were reported; the incidence of DKA was 5.2/100 patients /year. Episodes of DKA occurred in 89 patients (39 girls and 50 boys). In 82 patients 1 episode of DKA was recorded, in 3 patients - 2 episodes, in 3 patients - 3 episodes and in 1 patient - 4 episodes. 58.4% (59/101) of DKA episodes occurred in patients with newly diagnosed diabetes (mean age: 8.04-4.78 years) and 41.6% (42/101) - in children with established type 1 diabetes (mean age: 13.3-3.37). DKA was diagnosed in 26,1% of children with new onset of the disease. The most frequent causes of DKA in patients with established type 1 diabetes were noncompliance (22/42) and acute infectious diseases (12/42). Severe DKA was diagnosed in 19/101 episodes, moderate - in 36/101 and mild - in 46/101. No lethal complication of DKA was recorded. The following complications of DKA were observed: dyselectrolitemia (68/101), acute pancreatitis (5/101), gastrorrhagia (1/101), insulin oedema (1/101). Mean duration of hospitalization was 12.03-5.58 days.Newly diagnosed type 1 diabetes is the main cause of DKA in children and adolescents.In established type 1 diabetes the most frequent cause of DKA is poor quality of self-management. Dyselectrolitemia is the most frequent complication of DKA in children. Acute pancreatitis should be considered in a young patient with DKA.

The immunologic reaction of pancreatic islets destruction leads to the occurrence of type 1 diabetes mellitus (T1D). The autoreactive lymphocytes play the pivotal role in this process although mechanisms regulating the lymphocyte migration and infiltration of Langerhans islets have not been fully understood yet. The in vitro studies showed natural killer (NK) cells potency to initiate pancreatic islets cell lyses. Many authors postulate that NK cells may be involved in this reaction.The aim of the study was to evaluate the effect of IL-2, IL-12 and IL-15 stimulation on peripheral blood NK cells in children suffering from type 1 diabetes mellitus in comparison to healthy controls.Fifteen children with type 1 diabetes and 10 healthy adults were examined. NK cells were isolated by the magnetic cell separation system (MACS). For activation, NK cells were cultured with IL-2, IL-12 and IL-15 for 24 hours. The production of IFN-γ and IL-10 by NK cells was measured using commercial ELISA kits. FACS analysis of cell surface antigens--CD16, CD56, NKG2D and CD137 was performed using LSR II flow cytometer.In children with T1D the IFN-γ median concentration in supernatant obtained from NK cells culture was 16.831 ng/ml (inter quartile range 5.566-25.509) and did not statistically differ from median IFN-γ concentration in the control group--14.810 ng/ml (7.022-18.785), p = 0.76. In contrast, the IL-10 median concentration was statistically higher in T1D patients 7.87 pg/ml (1.32-11.37) than in healthy participants--1.41 pg/ml (1.05-4.81), p = 0.01. The median (inter-quartile range) percentage of NK NKG2D(+) was found in 0.42% (0.28-0.76) cells of TID patients versus 0.72% (0.53-1.08) in the controls (p = 0.05). There was no difference between -T1D group and the control group in regard to NK cells expressing CD137 - 6.58% (3.38-12.4) versus 6.85% (2.94-10.8); p = 0.8.The observed activity of NK cells after in vitro stimulation by IL2, IL-12 and IL15 in children suffering from type 1 diabetes mellitus indicates the tendency for supporting the inhibition of autoimmunological reaction by increased IL10 synthesis and increased number of NK cells with surface NKG2D receptors.

Bolus calculator feature (BC) is one of the most important options of modern insulin pumps. It enables both periprandial as well as correction insulin dosing. BC function leads to improvement of patient’s metabolic control. It makes the treatment safer andlimits the number of hypoglycemic episodes. In presented article we propose preliminary setting of BC in the Accu-Chek Combo system. It is obvious that those setting should be always verified according to a clinical situation.

AIM To evaluate gastric myoelectrical activity with respect to duration and metabolic control of type 1 diabetes mellitus (T1DM). METHODS 172 children and adolescents with T1DM (mean 14.4+/-3.7 y), divided into subgroups depending on diabetes duration ( 5 y), and 35 healthy controls (mean 13.93+/-3.59 y) were examined. All subjects underwent electrogastrography (EGG) performed after overnight fasting. In subjects with T1DM, haemoglobin A1c (HbA1c) and blood glucose levels during EGG records were measured. RESULTS 15.69% of T1DM patients and 91.42% of the controls fulfilled normal EGG criteria (p < 0.001). T1DM subjects had a lower percentage of fasting normogastria (34.56+/-27.35% vs 69.84+/-18.16%, p = 0.0001) and higher bradygastria (51.97+/-30.24% vs 19.11+/-15.01%, p = 0.0001) compared to controls. In diabetic patients, an increase in postprandial normogastria (60.37+/-23.96% vs 76.68+/-12.38, p < 0.05) and a decrease in bradygastria percentage (25.67+/-21.01% vs 9.58+/-7.13%, p < 0.05) was observed. In children with disease < 5 y, diabetes duration correlated with power ratio (r = - 0.27, p = 0.01), postprandial normogastria (r = - 0.24, p = 0.03) and tachygastria (r = 0.25, p = 0.02). Weak correlations between EGG parameters and glucose (preprandial dominant frequency r = - 0.19, p < 0.05; postprandial normogastria r = 0.23, p < 0.01) and HbA1c levels (preprandial bradygastria r = 0.19, postprandial dominant power r = 0.23; p < 0.05) were observed. CONCLUSION Gastric myoelectrical rhythm derangement is present in a large proportion of young diabetic patients. Bradygastria is the most prominent EGG abnormality. Weak correlation was found between EGG parameters and diabetes metabolic control.

The electrochemical behaviour of mixtures of phenazine (P) with iodine (I2) in the solid state was investigated. Three types of electrochemical experiments were conducted: (i) EMF measurements of the Ag/AgI/I2:P system for various I2 : P ratios, (ii) cyclic voltammetric (CV) experiments and (iii) potentiometric measurements of the open cell potentials after different cathodic charges were injected into the I2 : P pellets. In the first case, a detailed analysis of the observed electromotive force was presented. The Gibbs free energy of the I2 : P complex determined was in good agreement with earlier results. In the second case, the CV curves corresponding to the electrode processes of phenazine mixed with graphite in the solid state indicate that the mass and charge transfer, which occur in the pellets, are faster than expected. The potentiometric experiments confirm this conclusion. Additional experiments, conducted with pellets of different thickness, indicate that although, in comparison with an equilibrated pellet, the concentration profiles are modified in small layers (diffusion layers) neighbouring the electrodes, the electrode reaction probably occurs in the whole pellet. A tentative mechanism of these processes is discussed. Copyright © 2003 John Wiley & Sons, Ltd.

One of the consequences of excessive weight gain during insulin therapy in type 1 diabetes mellitus (T1DM) is an increased predisposition to cardiovascular diseases (CVD). Not only clinical but also genetic factors may play a role in the pathogenesis of this phenomenon. The aim of this study was to evaluate the prevalence of cardiovascular disease risk factors as well as the fat mass and obesity associated (FTO) gene rs9939609 variant in a large group of children with T1DM of the same ethnic-Polish origin. A total of 1237 children with T1DM and 1015 controls were recruited.The proportions of patients with obesity, hypertension, and abnormal LDL-cholesterol levels among children with T1DM were significantly higher than those in the non-diabetic. There was a higher rate of overweight, central obesity, and abnormal LDL-cholesterol levels among girls in comparison to that in boys in the group of children with diabetes. Children with inadequate metabolic control were characterized by the presence of more CVD risk factors. Similar differences were observed in children treated with the use of pens versus those using insulin pumps. The FTO gene single nucleotide polymorphism (SNP) correlated with body mass index (BMI) in both control and diabetic children, but the effect was lesser in diabetics. In a regression model the current BMI-SDS value in diabetics was significantly affected by the baseline BMI, disease duration, metabolic control, and subject's sex, but not the FTO genotype.Clinical rather than genetic factors have a greater impact on the development of overweight and obesity in insulin-treated children

Wolfram syndrome (WFS) is the most frequent syndromic form of monogenic diabetes coexisting with optic atrophy and many other disorders. The aim of this study was to estimate the prevalence of Wolfram syndrome among children with diabetes in Poland.These calculations were performed among Polish diabetic children, aged 0-18 years, from three administrative regions between January 2005 and December 2011. Epidemiological data was obtained by matching the results from the EURO-WABBPoland Project and the PolPeDiab Registry.Throughout the study period, we confirmed genetic diagnosis of Wolfram syndrome in 13 patients from Poland. Three patients originated from the studied regions with complete epidemiological data on paediatric diabetes. The total number of patients with diagnosed diabetes in the study equalled 2,568 cases. The prevalence of Wolfram syndrome among Polish children with diabetes is 0.12% (95% Confidence Interval 0.04-0.34%).We estimate that Wolfram syndrome is: 26 to 35 times less frequent than monogenic diabetes (MODY and neonatal diabetes) in the Polish paediatric population.

A girl with 18q deletion syndrome was diagnosed with autoimmune diabetes mellitus and Hashimoto's thyroiditis at the age of 3 yr. In addition, the girl suffered from recurrent infections due to immunoglobulin A and IgG4 deficiency. She was also found to have CD3+CD4+FoxP3+, CD3+CD4+FoxP3+CD25+, and CD3+CD4+CD25+CD127 regulatory T cells deficiency. The exceptional coincidence of the two autoimmune disorders occurring at an early age, and associated with immune deficiency, implies that genes located on deleted 19.4 Mbp region at 18q21.32-q23 (chr18:58,660,699-78,012,870) might play a role in the pathogenesis of autoimmunity leading to β cell destruction and diabetes.

AIM To investigate whether autoimmune thyroiditis (AIT) in children with type 1 diabetes mellitus (DM1) has any influence on glycemic control, lipid profile or thyroid volume. METHODS A total of 330 patients with DM1 and AIT (DM1+AIT group) were compared with 309 children with DM1 without AIT (control group). Patients were treated in four Polish academic pediatric diabetes centers from 2008 to 2012: Warsaw, Lodz, Katowice and Gdansk. All patients underwent measurements of thyroid-stimulating hormone (TSH), free thyroxine, anti-thyroid peroxidase (anti-TPO) antibody, anti-thyroglobulin (anti-TG) antibody and HbA1c levels, and thyroid ultrasound examination. RESULTS Among AIT+DM1 patients, 62% (n=205) were female, whereas in the control group 60.8% (n=188) were male (p

The objective was to compare the impact of clinical and genetic factors on body mass index (BMI) in children with type 1 diabetes (T1DM) without severe obesity. A total of 1,119 children with T1DM (aged 4–18 years) were qualified to take part in the study. All children were genotyped for variants ofFTO,MC4R,INSIG2,FASN,NPC1,PTER,SIRT1,MAF,IRT1, andCD36.Results.Variants ofFTOshowed significant association with BMI-SDS in the T1DM group. The main factors influencing BMI-SDS in children with T1DM included female gender (P=0.0003), poor metabolic control (P=0.0001), and carriage of the A allele of theFTOrs9939609 gene (P=0.02).Conclusion.Our research indicates, when assessing, the risk of overweight and obesity carriage of the A allele in the rs9939609 site of theFTOgene adds to that of female gender and poor metabolic control. This trial is registered with ClinicalTrials.gov (NCT01279161).

Familial hypercholesterolemia (FH) affects on average 1 in 500 individuals in European countries, and it is estimated that FH in Poland may affect more than 80,000 people. However, in Poland, only about 20% of the population is estimated to have been diagnosed with FH, of which only a small number receive adequate treatment. FH results in more rapid development of atherosclerosis and is associated with a high risk of cardiovascular events. Atherosclerosis develops beginning in childhood in patients with FH and reaches advanced stages before clinical manifestations develop. Inadequate diagnostics and treatment of FH in Polish children suggests a need for raising the level of awareness and understanding of the condition in both society and among health professionals. These recommendations present the current epidemiological status, guidelines for diagnosing FH in Polish children and adolescents, and effective treatment options.